Chr |
Loc |
Genotype |
Gene |
Ref |
Alt |
Type |
Class |
Protein |
RS |
Phenotype |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
1 |
881627 |
1 |
NOC2L |
G |
A |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon16:c.C1843T:p.L615L |
|
1 |
887801 |
2 |
NOC2L |
A |
G |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon10:c.T1182C:p.T394T |
|
1 |
888639 |
2 |
NOC2L |
T |
C |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon9:c.A918G:p.E306E |
|
1 |
888659 |
2 |
NOC2L |
T |
C |
exonic |
nonsynonymous SNV |
NOC2L:NM_015658:exon9:c.A898G:p.I300V |
RS3748597 |
Microalbuminuria:Gene expression of
KLHL17 [transcript NM_198317, probe A_32_P359110] in liver:Gene expression of
NOC2L [transcript NM_015658, probe A_23_P138058] in liver |
|
1 |
897325 |
2 |
KLHL17 |
G |
C |
exonic |
synonymous SNV |
KLHL17:NM_198317:exon4:c.G609C:p.A203A |
|
1 |
935222 |
2 |
HES4 |
C |
A |
exonic |
nonsynonymous SNV |
HES4:NM_001142467:exon1:c.G132T:p.R44S |
|
1 |
949654 |
2 |
ISG15 |
A |
G |
exonic |
synonymous SNV |
ISG15:NM_005101:exon2:c.A294G:p.V98V |
|
1 |
981931 |
2 |
AGRN |
A |
G |
exonic |
synonymous SNV |
AGRN:NM_198576:exon18:c.A3066G:p.S1022S |
|
1 |
982994 |
2 |
AGRN |
T |
C |
exonic |
synonymous SNV |
AGRN:NM_198576:exon21:c.T3558C:p.F1186F |
|
1 |
984302 |
2 |
AGRN |
T |
C |
exonic |
synonymous SNV |
AGRN:NM_198576:exon24:c.T4161C:p.T1387T |
|
1 |
989207 |
1 |
AGRN |
G |
C |
exonic |
nonsynonymous SNV |
AGRN:NM_198576:exon34:c.G5726C:p.S1909T |
|
1 |
990280 |
2 |
AGRN |
C |
T |
exonic |
synonymous SNV |
AGRN:NM_198576:exon36:c.C6057T:p.D2019D |
|
1 |
1158631 |
2 |
SDF4 |
A |
G |
exonic |
synonymous SNV |
SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D |
RS6603781 |
Simpson-Angus Scale:Serum
creatinine:Urinary albumin-to-creatinine ratio:PROP taste detection threshold |
|
1 |
1222267 |
2 |
SCNN1D |
G |
C |
exonic |
nonsynonymous SNV |
SCNN1D:NM_001130413:exon8:c.G1031C:p.R344P |
|
1 |
1254841 |
2 |
INTS11 |
C |
G |
exonic |
synonymous SNV |
INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G |
RS10907179 |
Comorbid depressive syndrome and
alcohol dependence |
|
1 |
1262966 |
2 |
CPTP |
C |
T |
exonic |
synonymous SNV |
CPTP:NM_001029885:exon3:c.C468T:p.R156R |
|
1 |
1269554 |
2 |
TAS1R3 |
T |
C |
exonic |
nonsynonymous SNV |
TAS1R3:NM_152228:exon6:c.T2269C:p.C757R |
|
1 |
1284367 |
1 |
DVL1 |
G |
A |
exonic |
nonsynonymous SNV |
DVL1:NM_001330311:exon1:c.C79T:p.R27C,DVL1:NM_004421:exon1:c.C79T:p.R27C |
|
1 |
1361633 |
2 |
TMEM88B |
G |
A |
exonic |
synonymous SNV |
TMEM88B:NM_001146685:exon1:c.G126A:p.S42S |
|
1 |
1361641 |
2 |
TMEM88B |
C |
T |
exonic |
nonsynonymous SNV |
TMEM88B:NM_001146685:exon1:c.C134T:p.P45L |
|
1 |
1374834 |
2 |
VWA1 |
A |
G |
exonic |
synonymous SNV |
VWA1:NM_022834:exon3:c.A1005G:p.P335P |
|
1 |
1403869 |
1 |
ATAD3C |
G |
A |
exonic |
nonsynonymous SNV |
ATAD3C:NM_001039211:exon12:c.G1195A:p.G399R |
|
1 |
1403873 |
1 |
ATAD3C |
A |
G |
exonic |
nonsynonymous SNV |
ATAD3C:NM_001039211:exon12:c.A1199G:p.E400G |
|
1 |
1421531 |
1 |
ATAD3B |
C |
A |
exonic |
synonymous SNV |
ATAD3B:NM_001317238:exon8:c.C867A:p.T289T,ATAD3B:NM_031921:exon10:c.C1005A:p.T335T |
RS819976 |
Total cholesterol:LDL
cholesterol:Transmission distortion |
|
1 |
1425700 |
1 |
ATAD3B |
T |
C |
exonic |
synonymous SNV |
ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I |
RS819980 |
Irritible bowel syndrome:LDL
cholesterol:Autism:Serum concentration of 3-methyl-2-oxobutyrate:PROP taste
detection threshold:Advanced age-related macular degeneration (geographic
atrophy) |
|
1 |
1431165 |
1 |
ATAD3B |
C |
T |
exonic |
nonsynonymous SNV |
ATAD3B:NM_001317238:exon14:c.C1777T:p.P593S,ATAD3B:NM_031921:exon16:c.C1915T:p.P639S |
|
1 |
1452592 |
2 |
ATAD3A |
T |
C |
exonic |
nonsynonymous SNV |
ATAD3A:NM_018188:exon3:c.T328C:p.W110R |
|
1 |
1452615 |
2 |
ATAD3A |
C |
T |
exonic |
synonymous SNV |
ATAD3A:NM_018188:exon3:c.C351T:p.A117A |
|
1 |
1479333 |
2 |
SSU72 |
A |
G |
exonic |
synonymous SNV |
SSU72:NM_014188:exon4:c.T399C:p.P133P |
RS7533 |
Differential splicing of SSU72
[probeset 2391652] in lymphoblastoid cell lines:Years of
education:Adiponectin levels |
|
1 |
1647814 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11A:NM_001313896:exon5:c.A429G:p.E143E,CDK11A:NM_001313982:exon5:c.A429G:p.E143E,CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_001291345:exon6:c.A429G:p.E143E,CDK11B:NM_001787:exon6:c.A459G:p.E153E,CDK11B:NM_033486:exon6:c.A459G:p.E153E,CDK11B:NM_033489:exon7:c.A357G:p.E119E |
RS72901775 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1647871 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11A:NM_001313896:exon5:c.A372G:p.R124R,CDK11A:NM_001313982:exon5:c.A372G:p.R124R,CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_001291345:exon6:c.A372G:p.R124R,CDK11B:NM_001787:exon6:c.A402G:p.R134R,CDK11B:NM_033486:exon6:c.A402G:p.R134R,CDK11B:NM_033489:exon7:c.A300G:p.R100R |
RS72909014 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650807 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11B:NM_001291345:exon4:c.A315G:p.R105R,CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R |
RS1137005 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650832 |
1 |
CDK11A;CDK11B |
A |
G |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon4:c.T290C:p.V97A,CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A |
RS72909030 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650845 |
1 |
CDK11A;CDK11B |
G |
A |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon4:c.C277T:p.R93W,CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11B:NM_001787:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033489:exon5:c.C175T:p.R59W |
RS1059831 |
Gene expression of MIB2 [transcript
NM_080875, probe A_24_P259328] in liver |
|
1 |
1653046 |
1 |
CDK11A;CDK11B |
T |
A |
exonic |
synonymous SNV |
CDK11B:NM_001291345:exon3:c.A216T:p.S72S,CDK11A:NM_001313896:exon3:c.A216T:p.S72S,CDK11A:NM_001313982:exon3:c.A216T:p.S72S,CDK11B:NM_001787:exon3:c.A216T:p.S72S,CDK11A:NM_024011:exon3:c.A216T:p.S72S,CDK11B:NM_033486:exon3:c.A216T:p.S72S,CDK11A:NM_033529:exon3:c.A216T:p.S72S,CDK11B:NM_033489:exon4:c.A114T:p.S38S |
|
1 |
1653093 |
1 |
CDK11A;CDK11B |
A |
G |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon3:c.T169C:p.C57R,CDK11A:NM_001313896:exon3:c.T169C:p.C57R,CDK11A:NM_001313982:exon3:c.T169C:p.C57R,CDK11B:NM_001787:exon3:c.T169C:p.C57R,CDK11A:NM_024011:exon3:c.T169C:p.C57R,CDK11B:NM_033486:exon3:c.T169C:p.C57R,CDK11A:NM_033529:exon3:c.T169C:p.C57R,CDK11B:NM_033489:exon4:c.T67C:p.C23R |
|
1 |
1684472 |
2 |
NADK |
C |
T |
exonic |
synonymous SNV |
NADK:NM_001198995:exon10:c.G1116A:p.P372P,NADK:NM_001198993:exon12:c.G1212A:p.P404P,NADK:NM_023018:exon12:c.G1212A:p.P404P,NADK:NM_001198994:exon14:c.G1647A:p.P549P |
|
1 |
1849529 |
2 |
TMEM52 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM52:NM_178545:exon5:c.T422C:p.M141T |
|
1 |
2126139 |
2 |
FAAP20 |
C |
G |
exonic |
nonsynonymous SNV |
FAAP20:NM_001256945:exon1:c.G50C:p.R17P,FAAP20:NM_001256946:exon1:c.G50C:p.R17P,FAAP20:NM_001256947:exon1:c.G50C:p.R17P,FAAP20:NM_001282673:exon1:c.G50C:p.R17P,FAAP20:NM_182533:exon1:c.G50C:p.R17P |
|
1 |
2340200 |
1 |
PEX10 |
T |
C |
exonic |
synonymous SNV |
PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T |
|
1 |
2430617 |
1 |
PLCH2 |
C |
T |
exonic |
synonymous SNV |
PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I |
RS2296442 |
HDL cholesterol:LDL
cholesterol:Fasting insulin:Gene expression of MMEL1 in peripheral blood
monocytes:Body mass index (BMI):Serum concentration of arginine:Mitral
annular calcium |
|
1 |
2441358 |
1 |
PANK4 |
T |
C |
exonic |
nonsynonymous SNV |
PANK4:NM_018216:exon18:c.A2075G:p.Q692R |
RS2494620 |
Triglycerides:Gene expression of
PLCH2 (ENSG00000149527) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of PLCH2 (ENSG00000149527) in dendritic
cells:Years of education |
|
1 |
2444414 |
1 |
PANK4 |
G |
A |
exonic |
nonsynonymous SNV |
PANK4:NM_018216:exon13:c.C1664T:p.A555V |
RS7535528 |
Spine bone mineral density
(BMD):Fasting insulin:HOMA-IR:HOMA-B:Serum creatinine:Body mass index
(BMI):Gene expression of PLCH2 in blood:Gene expression of TNFRSF14 in
blood:Gene expression of C1orf93 in blood:Gene expression of PANK4
(ENSG00000157881) in dendritic cells treated with Mycobacterium
tuberculosis:Birth weight |
|
1 |
2452569 |
2 |
PANK4 |
T |
C |
exonic |
synonymous SNV |
PANK4:NM_018216:exon3:c.A417G:p.K139K |
RS2985862 |
HDL cholesterol:LDL
cholesterol:Gene expression of PANK4 [probe 218771_at] in prefrontal
cortex:Gene expression of MMEL1 in peripheral blood monocytes:Body mass index
(BMI):Serum ratio of (1-oleoylglycerol
(1-monoolein))/(1-palmitoleoylglycerophosphocholine*):Transmission
distortion:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
1 |
2488153 |
1 |
TNFRSF14 |
A |
G |
exonic |
nonsynonymous SNV |
TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R |
|
1 |
2856155 |
2 |
|
1 |
3389727 |
1 |
ARHGEF16 |
C |
T |
exonic |
nonsynonymous SNV |
ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y |
RS2185639 |
Triglycerides:HDL
cholesterol:Parkinson's disease |
|
1 |
3394456 |
2 |
ARHGEF16 |
T |
C |
exonic |
synonymous SNV |
ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S |
|
1 |
3395039 |
1 |
ARHGEF16 |
G |
A |
exonic |
synonymous SNV |
ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V |
RS10797395 |
HDL
cholesterol:Triglycerides:Parkinson's disease |
|
1 |
3548136 |
2 |
WRAP73 |
T |
C |
exonic |
synonymous SNV |
WRAP73:NM_017818:exon11:c.A1134G:p.A378A |
RS2760321 |
Serum ratio of
(1-stearoylglycerophosphocholine)/(2-tetradecenoyl carnitine) |
|
1 |
3745924 |
2 |
CEP104 |
G |
A |
exonic |
nonsynonymous SNV |
CEP104:NM_014704:exon15:c.C2057T:p.A686V |
RS2275831 |
Differential exon level expression
of CCDC27 [probe 2317487] in brain cortex:Gene expression of TSPYL2 in
peripheral blood monocytes:Partial epilepsy:Primary rhegmatogenous retinal
detachment |
|
1 |
3807593 |
2 |
C1orf174 |
G |
C |
exonic |
nonsynonymous SNV |
C1orf174:NM_207356:exon3:c.C158G:p.T53R |
RS4274008 |
Birth weight |
|
1 |
5937168 |
2 |
NPHP4 |
G |
A |
exonic |
synonymous SNV |
NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R |
RS3747992 |
Triglycerides:Chronic kidney disease |
|
1 |
6614391 |
2 |
NOL9 |
A |
C |
exonic |
nonsynonymous SNV |
NOL9:NM_024654:exon1:c.T172G:p.S58A |
|
1 |
6614415 |
2 |
NOL9 |
A |
G |
exonic |
nonsynonymous SNV |
NOL9:NM_024654:exon1:c.T148C:p.W50R |
|
1 |
6614535 |
2 |
NOL9 |
G |
A |
exonic |
nonsynonymous SNV |
NOL9:NM_024654:exon1:c.C28T:p.R10W |
RS4908923 |
Fasting insulin:HOMA-IR:HOMA-B:LDL
cholesterol:Total cholesterol change with statins:LDL cholesterol change with
statins:Total cholesterol:LDL cholesterol:Total cholesterol:Infant head
circumference |
|
1 |
6635231 |
2 |
TAS1R1 |
A |
G |
exonic |
nonsynonymous SNV |
TAS1R1:NM_138697:exon3:c.A1039G:p.K347E |
|
1 |
6659505 |
1 |
KLHL21 |
G |
A |
exonic |
synonymous SNV |
KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S |
RS2232460 |
PROP taste detection threshold |
|
1 |
6693097 |
1 |
THAP3 |
A |
G |
exonic |
nonsynonymous SNV |
THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R |
RS3174820 |
Total cholesterol:Systolic blood
pressure (SBP):Obesity with early age of onset (age >2):Aortic valve
calcium:Mitral annular calcium |
|
1 |
6704635 |
2 |
DNAJC11 |
A |
G |
exonic |
synonymous SNV |
DNAJC11:NM_018198:exon10:c.T1080C:p.G360G |
RS200458 |
Triglycerides:Cystatin C in
serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar
disorder:Hypertension (early onset hypertension):Adiponectin levels |
|
1 |
6705874 |
1 |
DNAJC11 |
G |
C |
exonic |
nonsynonymous SNV |
DNAJC11:NM_018198:exon8:c.C869G:p.T290S |
RS200454 |
Barnes Akathisia Rating Scale:Years
of education |
|
1 |
8075620 |
1 |
ERRFI1 |
T |
C |
exonic |
synonymous SNV |
ERRFI1:NM_018948:exon2:c.A60G:p.L20L |
|
1 |
8418644 |
2 |
RERE |
C |
A |
exonic |
synonymous SNV |
RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R |
|
1 |
8418650 |
2 |
RERE |
T |
C |
exonic |
synonymous SNV |
RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R |
|
1 |
8421203 |
2 |
RERE |
T |
C |
exonic |
synonymous SNV |
RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P |
RS13596 |
Gene expression of SLC45A1
(ENSG00000162426) in dendritic cells treated with Mycobacterium tuberculosis |
|
1 |
8425900 |
1 |
RERE |
T |
C |
exonic |
synonymous SNV |
RERE:NM_001042681:exon13:c.A1419G:p.T473T,RERE:NM_012102:exon14:c.A1419G:p.T473T |
RS3753275 |
Total cholesterol:LDL
cholesterol:Triglycerides change with statins:LDL cholesterol:Years of
education:College completion |
|
1 |
9323910 |
1 |
H6PD |
G |
A |
exonic |
nonsynonymous SNV |
H6PD:NM_001282587:exon5:c.G1391A:p.R464Q,H6PD:NM_004285:exon5:c.G1358A:p.R453Q |
RS6688832 |
Stabilized warfarin dose:Irritible
bowel syndrome:LDL cholesterol:Premature ovarian failure:Fasting blood
glucose:Height:Gene expression of H6PD in blood:Hypertension (early onset
hypertension) |
|
1 |
9324571 |
1 |
H6PD |
T |
C |
exonic |
synonymous SNV |
H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y |
RS9434742 |
PROP taste detection threshold |
|
1 |
9324670 |
1 |
H6PD |
A |
G |
exonic |
synonymous SNV |
H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S |
|
1 |
9642424 |
1 |
SLC25A33 |
G |
C |
exonic |
synonymous SNV |
SLC25A33:NM_032315:exon7:c.G831C:p.L277L |
|
1 |
9670834 |
2 |
TMEM201 |
C |
T |
exonic |
nonsynonymous SNV |
TMEM201:NM_001130924:exon9:c.C1736T:p.P579L |
RS4926472 |
LDL cholesterol:HDL cholesterol
change with statins |
|
1 |
9784423 |
1 |
PIK3CD |
C |
T |
exonic |
synonymous SNV |
PIK3CD:NM_001350235:exon21:c.C2721T:p.Y907Y,PIK3CD:NM_001350234:exon22:c.C2805T:p.Y935Y,PIK3CD:NM_005026:exon22:c.C2808T:p.Y936Y |
RS11121484 |
Rheumatoid arthritis |
|
1 |
10511544 |
2 |
CENPS-CORT;CORT |
C |
T |
exonic |
synonymous SNV |
CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A |
RS628462 |
Gene expression of KIF1B in
blood:Gene expression of APITD1 (ENSG00000175279) in dendritic cells |
|
1 |
10511589 |
2 |
CENPS-CORT;CORT |
T |
C |
exonic |
synonymous SNV |
CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S |
RS666103 |
2 hour glucose:Urinary
albumin-to-creatinine ratio:Birth weight |
|
1 |
10689924 |
1 |
PEX14 |
C |
T |
exonic |
synonymous SNV |
PEX14:NM_004565:exon9:c.C1014T:p.D338D |
|
1 |
10689942 |
1 |
PEX14 |
G |
T |
exonic |
synonymous SNV |
PEX14:NM_004565:exon9:c.G1032T:p.G344G |
|
1 |
11073982 |
1 |
TARDBP |
T |
C |
exonic |
synonymous SNV |
TARDBP:NM_007375:exon2:c.T198C:p.A66A |
|
1 |
11087524 |
1 |
MASP2 |
G |
A |
exonic |
synonymous SNV |
MASP2:NM_006610:exon11:c.C1479T:p.S493S |
RS1782455 |
Serum
creatinine:Height:Microalbuminuria:Obesity with early age of onset (age
>2) |
|
1 |
11119899 |
2 |
SRM |
T |
C |
exonic |
synonymous SNV |
SRM:NM_003132:exon1:c.A102G:p.S34S |
|
1 |
11181327 |
2 |
MTOR |
C |
T |
exonic |
synonymous SNV |
MTOR:NM_004958:exon49:c.G6909A:p.L2303L |
RS11121691 |
Differential splicing of FRAP1
[probeset 2396584] in lymphoblastoid cell lines:2 hour glucose:Total
cholesterol:Height:Body mass index (BMI):Microalbuminuria:Urinary
albumin-to-creatinine ratio:Parkinson's disease:Diabetic retinopathy in Type
2 diabetes mellitus:Obesity with early age of onset (age >2):Birth weight |
|
1 |
11184593 |
1 |
MTOR |
A |
G |
exonic |
synonymous SNV |
MTOR:NM_004958:exon47:c.T6624C:p.L2208L |
|
1 |
11190646 |
2 |
MTOR |
G |
A |
exonic |
synonymous SNV |
MTOR:NM_004958:exon39:c.C5553T:p.S1851S |
RS2275527 |
Differential splicing of FRAP1
[probeset 2396584] in lymphoblastoid cell lines:Total cholesterol:Height:Body
mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine
ratio:Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age
of onset (age >2):Parkinson's disease:Birth weight |
|
1 |
11718859 |
1 |
FBXO44 |
C |
T |
exonic |
nonsynonymous SNV |
FBXO44:NM_183412:exon4:c.C430T:p.R144C,FBXO44:NM_183413:exon4:c.C430T:p.R144C,FBXO44:NM_001304790:exon5:c.C430T:p.R144C,FBXO44:NM_001330355:exon5:c.C526T:p.R176C |
|
1 |
11728894 |
1 |
FBXO6 |
G |
A |
exonic |
nonsynonymous SNV |
FBXO6:NM_018438:exon2:c.G179A:p.R60Q |
|
1 |
11849447 |
2 |
C1orf167 |
A |
G |
exonic |
nonsynonymous SNV |
C1orf167:NM_001010881:exon21:c.A4294G:p.R1432G |
|
1 |
11854457 |
2 |
MTHFR |
G |
A |
exonic |
synonymous SNV |
MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F |
RS4846051 |
Cystatin C in serum:Serum creatinine |
|
1 |
11856378 |
1 |
MTHFR |
G |
A |
exonic |
nonsynonymous SNV |
MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V |
RS386545618 |
Hip geometry, shaft section
modulus, gender differentiated in males:HDL cholesterol:Circulating Folate
concentration (ng/mL):Circulating Homocysteine concentration (?mol/L):Total
plasma homocysteine:Plasma homocysteine:Major depressive disorder (broad definition):Major
depressive disorder (narrow definition):Recurrent early onset major
depressive disorder (broad definition):Recurrent early onset major depressive
disorder (narrow definition):Homocysteine levels:Serum creatinine:HDL
cholesterol:Neuroblastoma (brain cancer):N-terminal signal peptide of
pro-B-type natriuretic peptide blood level:Microalbuminuria:IgA
nephropathy:Gene expression of NPPA in blood:Gene expression of CLCN6 in
blood:Gene expression of MTHFR///AL953897.6 in blood:Gene expression of MFN2
in blood:Gene expression of PLOD1 in blood:Diastolic blood pressure
(DBP):Schizophrenia:PROP taste detection threshold:Parkinson's
disease:Hypertension (early onset hypertension):Congenital heart
malformations:Gene expression of MTHFR (probeID ILMN_1734830) in cerebellum
in Alzheimer's disease cases:Homocysteine:Breast cancer |
|
1 |
11983206 |
1 |
KIAA2013 |
A |
G |
exonic |
synonymous SNV |
KIAA2013:NM_138346:exon2:c.T1374C:p.F458F |
|
1 |
12009955 |
1 |
PLOD1 |
C |
T |
exonic |
synonymous SNV |
PLOD1:NM_000302:exon3:c.C294T:p.F98F,PLOD1:NM_001316320:exon4:c.C435T:p.F145F |
RS7529452 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
12024235 |
1 |
PLOD1 |
C |
T |
exonic |
synonymous SNV |
PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N |
RS1130529 |
Cystatin C in serum:Aortic valve
calcium |
|
1 |
12082334 |
1 |
MIIP |
A |
T |
exonic |
nonsynonymous SNV |
MIIP:NM_021933:exon3:c.A297T:p.K99N |
|
1 |
12082926 |
2 |
MIIP |
A |
G |
exonic |
nonsynonymous SNV |
MIIP:NM_021933:exon4:c.A499G:p.K167E |
RS2295283 |
Differential exon level expression
of MFN2 [probe 2320645] in peripheral blood mononuclear cells:Simpson-Angus
Scale:Gene expression of PLOD1 in peripheral blood monocytes:Gene expression
of MFN2 in peripheral blood monocytes:Gene expression of MIIP [transcript
NM_021933, probe A_23_P114649] in liver:Gene expression of MFN2 in blood:Gene
expression of PLOD1 in blood:Serum ratio of
(1-eicosatrienoylglycerophosphocholine*)/(arabinose):Serum ratio of (laurate
(12:0))/(xanthine):Gene expression of MFN2 [probeset 216205_s_at] in
sputum:Gene expression of MFN2 [probeset 201155_s_at] in sputum:Bipolar
disorder:Migraine |
|
1 |
12401868 |
2 |
VPS13D |
A |
C |
exonic |
synonymous SNV |
VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P |
RS28551666 |
Serum ratio of
(1-methylurate)/(HWESASXX*):Diabetic retinopathy in Type 2 diabetes mellitus |
|
1 |
12638964 |
1 |
DHRS3 |
T |
C |
exonic |
synonymous SNV |
DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P |
RS2275875 |
Differential exon level expression
of DHRS3 [probe 2397040] in brain cortex:Serum ratio of
(threitol)/(trigonelline (N'-methylnicotinate)):Serum concentration of
serotonin (5HT) |
|
1 |
14105298 |
1 |
PRDM2 |
G |
A |
exonic |
synonymous SNV |
PRDM2:NM_001007257:exon3:c.G405A:p.E135E,PRDM2:NM_012231:exon8:c.G1008A:p.E336E,PRDM2:NM_015866:exon8:c.G1008A:p.E336E |
RS1203678 |
Triglycerides:HDL
cholesterol:Fasting blood glucose:LDL cholesterol change with statins:HDL
cholesterol:Serum ratio of (caproate (6:0))/(dihomo-linolenate (20:3n3 or
n6)) |
|
1 |
14143003 |
2 |
PRDM2 |
A |
G |
exonic |
nonsynonymous SNV |
PRDM2:NM_001135610:exon7:c.A593G:p.Q198R |
RS1046331 |
Triglycerides:HDL
cholesterol:Triglycerides:Birth weight |
|
1 |
15386706 |
1 |
KAZN |
G |
C |
exonic |
nonsynonymous SNV |
KAZN:NM_001017999:exon6:c.G673C:p.V225L,KAZN:NM_001018000:exon6:c.G937C:p.V313L,KAZN:NM_001018001:exon6:c.G673C:p.V225L,KAZN:NM_015209:exon6:c.G955C:p.V319L,KAZN:NM_201628:exon6:c.G955C:p.V319L |
|
1 |
15541607 |
1 |
TMEM51 |
T |
C |
exonic |
synonymous SNV |
TMEM51:NM_001136217:exon2:c.T24C:p.N8N,TMEM51:NM_018022:exon2:c.T24C:p.N8N,TMEM51:NM_001136216:exon3:c.T24C:p.N8N,TMEM51:NM_001136218:exon3:c.T24C:p.N8N,TMEM51:NM_001319665:exon3:c.T24C:p.N8N |
RS3820065 |
HDL cholesterol:Total cholesterol |
|
1 |
15832543 |
2 |
CASP9 |
T |
C |
exonic |
nonsynonymous SNV |
CASP9:NM_001229:exon5:c.A662G:p.Q221R,CASP9:NM_032996:exon5:c.A413G:p.Q138R |
RS1052576 |
Gene expression of AGMAT [probe
222930_s_at] in lymphoblastoid cell lines:Gene expression of probe
221648_s_at in lymphoblastoid cell lines:Gene expression of DDI2 [probe
224449_at] in lymphoblastoid cell lines:Serum creatinine:Waist hip
ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of
CASP9 in normal prepouch ileum |
|
1 |
15844615 |
2 |
CASP9 |
A |
G |
exonic |
synonymous SNV |
CASP9:NM_001229:exon2:c.T408C:p.F136F,CASP9:NM_001278054:exon2:c.T408C:p.F136F,CASP9:NM_032996:exon2:c.T159C:p.F53F |
RS1132312 |
Serum creatinine:Waist hip
ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of
CASP9 in normal prepouch ileum |
|
1 |
15850603 |
1 |
CASP9 |
G |
A |
exonic |
synonymous SNV |
CASP9:NM_001229:exon1:c.C93T:p.S31S,CASP9:NM_001278054:exon1:c.C93T:p.S31S |
RS4645983 |
Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Chronic kidney disease:Serum creatinine:Methylation levels at
chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Frontal
cortex:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe
cg17385448] in Cerebellum:Methylation levels at chr1:15784239-15784289 [hg18
coord, probe cg17385448] in Caudal pons:Methylation levels at
chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal
cortex:Methylation levels at chr1:15783576-15783626 [hg18 coord, probe
cg11706911] in Cerebellum:Systolic blood pressure (SBP) |
|
1 |
15850613 |
2 |
CASP9 |
G |
A |
exonic |
nonsynonymous SNV |
CASP9:NM_001229:exon1:c.C83T:p.A28V,CASP9:NM_001278054:exon1:c.C83T:p.A28V |
RS1052571 |
Gene expression of AGMAT [probe
222930_s_at] in lymphoblastoid cell lines:Gene expression of DDI2 [probe
224449_at] in lymphoblastoid cell lines:Gene expression of probe 221648_s_at
in lymphoblastoid cell lines:Gene expression of DDI2 in lymphoblastoid cell
lines:Gene expression of AGMAT in lymphoblastoid cell lines:Fasting blood
glucose:Serum creatinine:Gene expression of CASP9 in blood:Gene expression of
PLEKHM2 in blood:Serum ratio of (1,3,7-trimethylurate)/(docosahexaenoate
(DHA; 22:6n3)):Gene expression of CASP9 [probeset 203984_s_at] in sputum:Gene
expression of CASP9 [probeset 210775_x_at] in sputum:Comorbid depressive
syndrome and alcohol dependence:Gene expression of CASP9 in normal prepouch
ileum:Tetrology of fallot |
|
1 |
15904318 |
1 |
AGMAT |
C |
T |
exonic |
synonymous SNV |
AGMAT:NM_024758:exon5:c.G762A:p.S254S |
|
1 |
15905501 |
1 |
AGMAT |
G |
A |
exonic |
synonymous SNV |
AGMAT:NM_024758:exon4:c.C573T:p.T191T |
|
1 |
15909744 |
1 |
AGMAT |
C |
T |
exonic |
nonsynonymous SNV |
AGMAT:NM_024758:exon2:c.G419A:p.R140Q |
RS11580170 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:Gene expression of CASP9 in blood
cells in Celiac disease:Serum creatinine:Methylation levels at
chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Caudal
pons:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe
cg17385448] in Frontal cortex:Methylation levels at chr1:15784239-15784289
[hg18 coord, probe cg17385448] in Cerebellum:Methylation levels at
chr1:15783576-15783626 [hg18 coord, probe cg11706911] in Cerebellum:Methylation
levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal
cortex:Gene expression of DDI2 in blood:Gene expression of SLC25A34 in
blood:Gene expression of PLEKHM2 in blood:Gene expression of [probe 5870605
centered at chr1:15867806] in blood:Gene expression of CASP9 in
blood:Adiponectin levels:Refractive error:Parkinson's disease:Tetrology of
fallot |
|
1 |
15909850 |
2 |
AGMAT |
C |
G |
exonic |
nonsynonymous SNV |
AGMAT:NM_024758:exon2:c.G313C:p.G105R |
RS6429757 |
Serum creatinine:Adiponectin
levels:Transmission distortion |
|
1 |
15911349 |
1 |
AGMAT |
G |
A |
exonic |
synonymous SNV |
AGMAT:NM_024758:exon1:c.C114T:p.D38D |
|
1 |
15986547 |
1 |
RSC1A1 |
T |
C |
exonic |
nonsynonymous SNV |
RSC1A1:NM_006511:exon1:c.T184C:p.F62L |
RS3766163 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:Gene expression of CASP9 in blood
cells in Celiac disease:Chronic kidney disease:Serum creatinine:Methylation
levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal
cortex:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe
cg17385448] in Cerebellum:Methylation levels at chr1:15784239-15784289 [hg18
coord, probe cg17385448] in Caudal pons:Methylation levels at
chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Frontal
cortex:Methylation levels at chr1:15783576-15783626 [hg18 coord, probe
cg11706911] in Cerebellum:Waist hip ratio:Late onset Alzheimer's disease:Gene
expression of DDI2 in blood:Gene expression of [probe 5870605 centered at
chr1:15867806] in blood:Gene expression of CASP9 in blood:Gene expression of
SLC25A34 in blood:Gene expression of RSC1A1 in blood:Gene expression of
PLEKHM2 in blood:Refractive error:Tetrology of fallot |
|
1 |
16057046 |
1 |
PLEKHM2 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHM2:NM_015164:exon15:c.G2228A:p.R743H |
|
1 |
16096934 |
2 |
FBLIM1 |
C |
T |
exonic |
nonsynonymous SNV |
FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F |
RS10927851 |
LDL cholesterol |
|
1 |
16451767 |
1 |
EPHA2 |
G |
A |
exonic |
synonymous SNV |
EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I |
RS3754334 |
Triglycerides:Total
cholesterol:Triglycerides:Waist hip ratio:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Adiponectin levels:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
1 |
16464673 |
1 |
EPHA2 |
G |
A |
exonic |
synonymous SNV |
EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P |
RS2230597 |
Triglycerides:Advanced age-related
macular degeneration:Infant head circumference:Adiponectin levels |
|
1 |
16577794 |
1 |
FBXO42 |
C |
T |
exonic |
nonsynonymous SNV |
FBXO42:NM_018994:exon10:c.G1525A:p.A509T |
|
1 |
16577908 |
1 |
FBXO42 |
G |
C |
exonic |
nonsynonymous SNV |
FBXO42:NM_018994:exon10:c.C1411G:p.P471A |
RS12069239 |
Gene expression of ARHGEF19 in
CHB-JPT lymphoblastoid cell lines:Differential splicing of FBXO42 [probeset
2398103] in lymphoblastoid cell lines:HDL cholesterol:Serum creatinine:Total
cholesterol:Body mass index (BMI):Infant head circumference:Birth weight |
|
1 |
16641899 |
1 |
FBXO42 |
C |
T |
exonic |
synonymous SNV |
FBXO42:NM_018994:exon2:c.G15A:p.S5S |
|
1 |
16736272 |
1 |
SPATA21 |
G |
A |
exonic |
synonymous SNV |
SPATA21:NM_198546:exon6:c.C411T:p.S137S |
|
1 |
16890441 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16890484 |
1 |
NBPF1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16890598 |
1 |
NBPF1 |
T |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
16890606 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16890644 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16891333 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16902823 |
1 |
NBPF1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16907328 |
1 |
NBPF1 |
G |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16918502 |
1 |
NBPF1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
17084968 |
1 |
MST1L |
G |
C |
exonic |
nonsynonymous SNV |
MST1L:NM_001271733:exon11:c.C1507G:p.R503G |
|
1 |
17085412 |
2 |
MST1L |
C |
T |
exonic |
nonsynonymous SNV |
MST1L:NM_001271733:exon10:c.G1279A:p.A427T |
|
1 |
17085427 |
2 |
MST1L |
T |
C |
exonic |
nonsynonymous SNV |
MST1L:NM_001271733:exon10:c.A1264G:p.I422V |
|
1 |
17085795 |
2 |
MST1L |
G |
T |
exonic |
synonymous SNV |
MST1L:NM_001271733:exon8:c.C1026A:p.I342I |
|
1 |
17087299 |
2 |
MST1L |
T |
C |
exonic |
synonymous SNV |
MST1L:NM_001271733:exon3:c.A285G:p.S95S |
|
1 |
17087305 |
2 |
MST1L |
G |
C |
exonic |
synonymous SNV |
MST1L:NM_001271733:exon3:c.C279G:p.P93P |
|
1 |
17265511 |
1 |
CROCC |
C |
T |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1482T:p.S494S |
|
1 |
17265532 |
1 |
CROCC |
C |
G |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1503G:p.P501P |
|
1 |
17275337 |
2 |
CROCC |
C |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon19:c.C2752T:p.R918W |
|
1 |
17277573 |
1 |
CROCC |
C |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon20:c.C2962T:p.R988W |
|
1 |
17295679 |
2 |
CROCC |
T |
C |
exonic |
synonymous SNV |
CROCC:NM_014675:exon32:c.T5145C:p.A1715A |
|
1 |
17312743 |
2 |
ATP13A2 |
C |
T |
exonic |
nonsynonymous SNV |
ATP13A2:NM_001141974:exon27:c.G3214A:p.A1072T |
|
1 |
17313343 |
2 |
ATP13A2 |
G |
A |
exonic |
synonymous SNV |
ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A |
|
1 |
17313654 |
2 |
ATP13A2 |
C |
T |
exonic |
synonymous SNV |
ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_022089:exon26:c.G2970A:p.V990V |
|
1 |
17314942 |
2 |
ATP13A2 |
G |
A |
exonic |
synonymous SNV |
ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_022089:exon24:c.C2637T:p.G879G |
|
1 |
17319011 |
2 |
ATP13A2 |
G |
A |
exonic |
synonymous SNV |
ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P |
|
1 |
17380497 |
2 |
SDHB |
G |
T |
exonic |
synonymous SNV |
SDHB:NM_003000:exon1:c.C18A:p.A6A |
|
1 |
17991052 |
2 |
ARHGEF10L |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R |
|
1 |
18023365 |
2 |
ARHGEF10L |
C |
T |
exonic |
synonymous SNV |
ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N |
RS2270978 |
Triglycerides change with statins |
|
1 |
18023509 |
2 |
ARHGEF10L |
T |
C |
exonic |
synonymous SNV |
ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D |
RS2270977 |
Triglycerides change with statins |
|
1 |
18023690 |
2 |
ARHGEF10L |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V |
RS2270976 |
Triglycerides change with statins |
|
1 |
19201956 |
2 |
ALDH4A1 |
A |
G |
exonic |
synonymous SNV |
ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D |
RS2230708 |
Birth weight |
|
1 |
19202896 |
2 |
ALDH4A1 |
G |
A |
exonic |
synonymous SNV |
ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A |
|
1 |
19202917 |
2 |
ALDH4A1 |
T |
C |
exonic |
synonymous SNV |
ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S |
|
1 |
19202926 |
2 |
ALDH4A1 |
T |
C |
exonic |
synonymous SNV |
ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A |
|
1 |
19203961 |
1 |
ALDH4A1 |
C |
T |
exonic |
synonymous SNV |
ALDH4A1:NM_001161504:exon10:c.G906A:p.P302P,ALDH4A1:NM_001319218:exon10:c.G1086A:p.P362P,ALDH4A1:NM_003748:exon10:c.G1086A:p.P362P,ALDH4A1:NM_170726:exon10:c.G1086A:p.P362P |
|
1 |
19203997 |
2 |
ALDH4A1 |
C |
G |
exonic |
synonymous SNV |
ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A |
|
1 |
19411129 |
2 |
UBR4 |
A |
G |
exonic |
synonymous SNV |
UBR4:NM_020765:exon102:c.T14877C:p.H4959H |
RS1043905 |
Body mass index (BMI) |
|
1 |
19413261 |
2 |
UBR4 |
T |
A |
exonic |
nonsynonymous SNV |
UBR4:NM_020765:exon100:c.A14599T:p.M4867L |
RS12584 |
Body mass index (BMI) |
|
1 |
19415304 |
2 |
UBR4 |
C |
T |
exonic |
synonymous SNV |
UBR4:NM_020765:exon98:c.G14379A:p.K4793K |
RS1043899 |
Serum ratio of
(1-stearoylglycerophosphocholine)/(dodecanedioate) |
|
1 |
19433449 |
2 |
UBR4 |
A |
G |
exonic |
synonymous SNV |
UBR4:NM_020765:exon82:c.T12117C:p.V4039V |
RS6426677 |
Body mass index (BMI) |
|
1 |
19447843 |
2 |
UBR4 |
C |
G |
exonic |
synonymous SNV |
UBR4:NM_020765:exon68:c.G9981C:p.L3327L |
RS1044010 |
Body mass index (BMI) |
|
1 |
19652063 |
1 |
PQLC2 |
G |
A |
exonic |
synonymous SNV |
PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_001287531:exon4:c.G36A:p.T12T,PQLC2:NM_017765:exon5:c.G369A:p.T123T |
|
1 |
20020993 |
2 |
TMCO4 |
A |
G |
exonic |
synonymous SNV |
TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R |
|
1 |
20020994 |
2 |
TMCO4 |
C |
T |
exonic |
nonsynonymous SNV |
TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H |
RS4515815 |
Aortic valve calcium |
|
1 |
20982631 |
2 |
DDOST |
G |
A |
exonic |
synonymous SNV |
DDOST:NM_005216:exon3:c.C366T:p.G122G |
RS4704 |
Chronic kidney disease:PROP taste
detection threshold:Birth weight:Obesity with early age of onset (age
>2):Gene expression of CDA (probeID ILMN_1714592) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of CDA (probeID
ILMN_1714592) in temporal cortex in Alzheimer's disease cases and
controls:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
1 |
20987873 |
2 |
DDOST |
G |
C |
exonic |
nonsynonymous SNV |
DDOST:NM_005216:exon1:c.C22G:p.R8G |
|
1 |
21050958 |
2 |
SH2D5 |
C |
T |
exonic |
synonymous SNV |
SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q |
RS592060 |
Total cholesterol change with
statins:Methylation levels at chr1:20916568-20916618 [hg18 coord, probe
cg15613048] in Temporal cortex:Methylation levels at chr1:20916568-20916618
[hg18 coord, probe cg15613048] in Caudal pons:Methylation levels at chr1:20916568-20916618
[hg18 coord, probe cg15613048] in Frontal cortex:Mitral annular
calcium:Advanced age-related macular degeneration:Gene expression of KIF17
(ENSG00000117245) in dendritic cells |
|
1 |
21167404 |
2 |
EIF4G3 |
A |
G |
exonic |
synonymous SNV |
EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L |
RS7553394 |
PROP taste detection threshold |
|
1 |
21806667 |
2 |
NBPF3 |
C |
G |
exonic |
nonsynonymous SNV |
NBPF3:NM_001256417:exon10:c.C1122G:p.D374E,NBPF3:NM_001256416:exon11:c.C1296G:p.D432E,NBPF3:NM_032264:exon11:c.C1332G:p.D444E,NBPF3:NM_001330381:exon15:c.C1164G:p.D388E |
|
1 |
21808159 |
2 |
NBPF3 |
G |
A |
exonic |
synonymous SNV |
NBPF3:NM_001256417:exon12:c.G1293A:p.S431S,NBPF3:NM_001256416:exon13:c.G1467A:p.S489S,NBPF3:NM_032264:exon13:c.G1503A:p.S501S,NBPF3:NM_001330381:exon17:c.G1335A:p.S445S |
|
1 |
21808207 |
2 |
NBPF3 |
A |
C |
exonic |
synonymous SNV |
NBPF3:NM_001256417:exon12:c.A1341C:p.G447G,NBPF3:NM_001256416:exon13:c.A1515C:p.G505G,NBPF3:NM_032264:exon13:c.A1551C:p.G517G,NBPF3:NM_001330381:exon17:c.A1383C:p.G461G |
|
1 |
21808223 |
2 |
NBPF3 |
T |
C |
exonic |
synonymous SNV |
NBPF3:NM_001256417:exon12:c.T1357C:p.L453L,NBPF3:NM_001256416:exon13:c.T1531C:p.L511L,NBPF3:NM_032264:exon13:c.T1567C:p.L523L,NBPF3:NM_001330381:exon17:c.T1399C:p.L467L |
|
1 |
21809750 |
2 |
NBPF3 |
T |
C |
exonic |
synonymous SNV |
NBPF3:NM_001256417:exon14:c.T1563C:p.Y521Y,NBPF3:NM_001256416:exon15:c.T1737C:p.Y579Y,NBPF3:NM_032264:exon15:c.T1773C:p.Y591Y,NBPF3:NM_001330381:exon19:c.T1605C:p.Y535Y |
|
1 |
21809876 |
1 |
NBPF3 |
C |
G |
exonic |
nonsynonymous SNV |
NBPF3:NM_001256417:exon14:c.C1689G:p.H563Q,NBPF3:NM_001256416:exon15:c.C1863G:p.H621Q,NBPF3:NM_032264:exon15:c.C1899G:p.H633Q,NBPF3:NM_001330381:exon19:c.C1731G:p.H577Q |
|
1 |
21943820 |
1 |
RAP1GAP |
G |
A |
exonic |
synonymous SNV |
RAP1GAP:NM_001145658:exon7:c.C462T:p.Y154Y,RAP1GAP:NM_002885:exon7:c.C270T:p.Y90Y,RAP1GAP:NM_001145657:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001330383:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001350524:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350525:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350527:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350528:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350526:exon10:c.C270T:p.Y90Y |
RS2275360 |
HDL cholesterol change with
statins:Triglycerides change with statins:Serum ratio of
(cholate)/(tetradecanedioate):Bipolar disorder:Refractive error |
|
1 |
22109370 |
1 |
USP48 |
G |
A |
exonic |
synonymous SNV |
USP48:NM_001032730:exon1:c.C81T:p.H27H,USP48:NM_001330394:exon1:c.C81T:p.H27H,USP48:NM_001350164:exon1:c.C81T:p.H27H,USP48:NM_001350166:exon1:c.C81T:p.H27H,USP48:NM_001350167:exon1:c.C81T:p.H27H,USP48:NM_001350168:exon1:c.C81T:p.H27H,USP48:NM_032236:exon1:c.C81T:p.H27H |
RS10917042 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Birth weight:Prostate cancer:Transmission distortion |
|
1 |
22149935 |
2 |
HSPG2 |
T |
C |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S |
RS897467 |
Obesity with early age of onset (age
>2):Acute lung injury following major trauma |
|
1 |
22154845 |
1 |
HSPG2 |
A |
G |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon89:c.T12315C:p.D4105D,HSPG2:NM_005529:exon89:c.T12312C:p.D4104D |
RS2228347 |
Birth weight:Infant head
circumference |
|
1 |
22157545 |
1 |
HSPG2 |
G |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon85:c.C11604T:p.Y3868Y,HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y |
|
1 |
22160043 |
1 |
HSPG2 |
C |
T |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon79:c.G10898A:p.R3633Q,HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q |
RS2229493 |
HDL cholesterol:Years of education |
|
1 |
22163390 |
1 |
HSPG2 |
G |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon75:c.C10263T:p.H3421H,HSPG2:NM_005529:exon75:c.C10260T:p.H3420H |
|
1 |
22168801 |
1 |
HSPG2 |
T |
C |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon68:c.A8986G:p.S2996G,HSPG2:NM_005529:exon68:c.A8983G:p.S2995G |
|
1 |
22174518 |
1 |
HSPG2 |
G |
T |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon60:c.C7809A:p.V2603V,HSPG2:NM_005529:exon60:c.C7806A:p.V2602V |
RS12737091 |
HDL cholesterol:Waist hip
ratio:Aortic root diameter:Birth weight |
|
1 |
22179244 |
1 |
HSPG2 |
C |
T |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon52:c.G6676A:p.G2226S,HSPG2:NM_005529:exon52:c.G6673A:p.G2225S |
|
1 |
22180723 |
1 |
HSPG2 |
C |
T |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon50:c.G6405A:p.V2135V,HSPG2:NM_005529:exon50:c.G6402A:p.V2134V |
|
1 |
22181895 |
1 |
HSPG2 |
C |
T |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon47:c.G5902A:p.V1968I,HSPG2:NM_005529:exon47:c.G5899A:p.V1967I |
|
1 |
22191454 |
1 |
HSPG2 |
G |
A |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V |
RS897471 |
Triglycerides:Microalbuminuria:Infant
head circumference:Gene expression of HSPG2 (ENSG00000142798) in dendritic
cells treated with Mycobacterium tuberculosis |
|
1 |
22206649 |
2 |
HSPG2 |
T |
C |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S |
RS989994 |
Cystatin C in serum |
|
1 |
22206942 |
2 |
HSPG2 |
G |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A |
|
1 |
22207235 |
2 |
HSPG2 |
T |
C |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V |
|
1 |
22214127 |
1 |
HSPG2 |
A |
G |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L |
|
1 |
22216574 |
1 |
HSPG2 |
C |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon6:c.G474T:p.G158G,HSPG2:NM_005529:exon6:c.G474T:p.G158G |
RS2254358 |
Triglycerides change with
statins:Cystatin C in serum:Height:Bipolar disorder |
|
1 |
22216604 |
1 |
HSPG2 |
C |
G |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L |
RS2254357 |
Cystatin C in serum |
|
1 |
22835677 |
1 |
ZBTB40 |
A |
G |
exonic |
nonsynonymous SNV |
ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C |
RS209729 |
Schizophrenia:Simpson-Angus
Scale:Gene expression of [probe 1850386 centered at chr1:22884236] in
blood:Gene expression of ZBTB40 in blood:Refractive error:Obesity with early
age of onset (age >2) |
|
1 |
22846709 |
2 |
ZBTB40 |
G |
A |
exonic |
nonsynonymous SNV |
ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M |
|
1 |
23419283 |
1 |
LUZP1 |
G |
A |
exonic |
nonsynonymous SNV |
LUZP1:NM_001142546:exon3:c.C1472T:p.T491I,LUZP1:NM_033631:exon4:c.C1472T:p.T491I |
|
1 |
23419374 |
1 |
LUZP1 |
G |
T |
exonic |
nonsynonymous SNV |
LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K |
RS3765407 |
Gene expression of LUZP1 [probe
221831_at] in lymphoblastoid cell lines:Triglycerides:Body mass index (BMI) |
|
1 |
23419383 |
1 |
LUZP1 |
C |
T |
exonic |
nonsynonymous SNV |
LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S |
RS477830 |
Triglycerides:Tardive dyskinesia |
|
1 |
23419855 |
1 |
LUZP1 |
T |
C |
exonic |
synonymous SNV |
LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T |
RS1983965 |
Gene expression of LUZP1 [probe
221831_at] in lymphoblastoid cell lines:Triglycerides:Body mass index (BMI) |
|
1 |
23688933 |
2 |
ZNF436 |
A |
G |
exonic |
synonymous SNV |
ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N |
RS2849028 |
Serum creatinine:Chronic kidney
disease:HDL cholesterol:Height:Waist hip ratio:Aortic valve calcium:Gene
expression of TCEA3 (probeID ILMN_1726928) in cerebellum in Alzheimer's
disease cases and controls:Parkinson's disease:Gene expression of TCEA3 (probeID
ILMN_1726928) in temporal cortex in Alzheimer's disease cases and controls |
|
1 |
23847464 |
2 |
E2F2 |
C |
A |
exonic |
nonsynonymous SNV |
E2F2:NM_004091:exon4:c.G678T:p.Q226H |
RS2075995 |
Chronic kidney disease:Asthma:Serum
concentration of isoleucine |
|
1 |
23885498 |
2 |
ID3 |
T |
C |
exonic |
nonsynonymous SNV |
ID3:NM_002167:exon2:c.A313G:p.T105A |
RS11574 |
Height:Body mass index (BMI):Gene
expression of ASAP3 (ENSG00000088280) in dendritic cells treated with
Mycobacterium tuberculosis:Aortic valve calcium:Gene expression change of
ASAP3 (ENSG00000088280) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
1 |
24134721 |
1 |
HMGCL |
T |
C |
exonic |
synonymous SNV |
HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L |
RS719400 |
Total cholesterol:Serum
creatinine:Salmonella-induced pyroptosis |
|
1 |
24194748 |
1 |
FUCA1 |
G |
C |
exonic |
nonsynonymous SNV |
FUCA1:NM_000147:exon1:c.C29G:p.P10R |
RS2070956 |
Gene expression change of FUCA1
(ENSG00000179163) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of FUCA1 (ENSG00000179163) in dendritic cells
treated with Mycobacterium tuberculosis |
|
1 |
24194773 |
1 |
FUCA1 |
G |
A |
exonic |
nonsynonymous SNV |
FUCA1:NM_000147:exon1:c.C4T:p.R2W |
|
1 |
24406535 |
1 |
MYOM3 |
G |
A |
exonic |
nonsynonymous SNV |
MYOM3:NM_152372:exon20:c.C2557T:p.P853S |
|
1 |
24416059 |
2 |
MYOM3 |
T |
C |
exonic |
nonsynonymous SNV |
MYOM3:NM_152372:exon14:c.A1583G:p.D528G |
|
1 |
24448084 |
1 |
IL22RA1 |
G |
A |
exonic |
synonymous SNV |
IL22RA1:NM_021258:exon7:c.C936T:p.P312P |
|
1 |
24460797 |
2 |
IL22RA1 |
T |
G |
exonic |
synonymous SNV |
IL22RA1:NM_021258:exon4:c.A435C:p.P145P |
|
1 |
24859617 |
2 |
RCAN3 |
G |
A |
exonic |
synonymous SNV |
RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P |
|
1 |
24859665 |
2 |
RCAN3 |
G |
A |
exonic |
synonymous SNV |
RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P |
|
1 |
24861704 |
2 |
RCAN3 |
G |
A |
exonic |
nonsynonymous SNV |
RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q |
RS196432 |
Celiac disease:Partial
epilepsy:Gene expression of GRHL3 [transcript NM_021180, probe A_23_P52067]
in liver:Gene expression of RCAN3 [transcript NM_013441, probe A_23_P391275]
in liver |
|
1 |
24981439 |
1 |
SRRM1 |
A |
G |
exonic |
synonymous SNV |
SRRM1:NM_001303448:exon9:c.A1134G:p.T378T,SRRM1:NM_001303449:exon9:c.A1017G:p.T339T,SRRM1:NM_005839:exon9:c.A1134G:p.T378T |
|
1 |
25890189 |
1 |
LDLRAP1 |
A |
G |
exonic |
synonymous SNV |
LDLRAP1:NM_015627:exon7:c.A654G:p.T218T |
RS28969504 |
Nonsyndromic striae distensae
(stretch marks) |
|
1 |
26131654 |
2 |
SELENON |
G |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
26138262 |
2 |
SELENON |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
26140573 |
2 |
SELENON |
C |
A |
exonic |
unknown |
UNKNOWN |
RS2294228 |
Advanced age-related macular
degeneration (geographic atrophy):Gene expression change of SEPN1
(ENSG00000162430) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
1 |
26496651 |
1 |
ZNF593 |
T |
C |
exonic |
synonymous SNV |
ZNF593:NM_015871:exon1:c.T177C:p.G59G |
RS7087 |
Height:Waist hip ratio:Infant head
circumference |
|
1 |
26582091 |
1 |
CEP85 |
G |
A |
exonic |
nonsynonymous SNV |
CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N |
RS3795686 |
Hip bone mineral density (BMD):LDL
cholesterol change with statins:Rheumatoid arthritis:Gene expression of
ZNF683 in blood:Gene expression of UBXN11 in blood:Gene expression of ZNF593
in blood:Gene expression of CNKSR1///CATSPER4 in blood:Gene expression of
AIM1L in blood:Comorbid depressive syndrome and alcohol dependence:Gene
expression of GRRP1 (probeID ILMN_2116299) in temporal cortex in Alzheimer's
disease cases and controls:Endometriosis:Gene expression change of CCDC21
(ENSG00000130695) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of GRRP1 (probeID ILMN_2116299) in cerebellum in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Breast cancer |
|
1 |
26609259 |
1 |
UBXN11 |
C |
T |
exonic |
synonymous SNV |
UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T |
RS7522905 |
Gene expression of CD52 [probe
204661_at] in lymphoblastoid cell lines:Triglycerides:Methylation levels at
chr1:26478506-26478556 [hg18 coord, probe cg01414934] in
Cerebellum:Triglycerides:Height:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
1 |
26610891 |
1 |
UBXN11 |
A |
C |
exonic |
nonsynonymous SNV |
UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R |
RS4332350 |
Cystatin C in serum:Diabetic
retinopathy in Type 2 diabetes mellitus:Birth weight |
|
1 |
27210721 |
2 |
GPN2 |
T |
C |
exonic |
nonsynonymous SNV |
GPN2:NM_018066:exon4:c.A790G:p.R264G |
RS3170660 |
HDL cholesterol:Triglycerides:LDL
cholesterol |
|
1 |
27278521 |
1 |
KDF1 |
G |
A |
exonic |
synonymous SNV |
KDF1:NM_152365:exon2:c.C351T:p.D117D |
RS3010110 |
Serum creatinine:Gene expression of
GPATC3 [probe ILMN_8756] in osteoblasts with treatment interaction:Gene
expression of ZDHHC18 [probe ILMN_25231] in untreated osteoblasts:Gene
expression of ARID1A in blood:Gene expression of ZDHHC18 in blood:Paternal transmission
distortion:Transmission distortion:Adiponectin levels |
|
1 |
27278553 |
1 |
KDF1 |
G |
A |
exonic |
nonsynonymous SNV |
KDF1:NM_152365:exon2:c.C319T:p.R107W |
RS3010109 |
Gene expression change of GPN2
(ENSG00000142751) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of GPN2 (ENSG00000142751) in dendritic cells
treated with Mycobacterium tuberculosis |
|
1 |
27320356 |
2 |
TRNP1 |
T |
C |
exonic |
nonsynonymous SNV |
TRNP1:NM_001013642:exon1:c.T79C:p.W27R |
|
1 |
27427041 |
1 |
SLC9A1 |
T |
C |
exonic |
synonymous SNV |
SLC9A1:NM_003047:exon12:c.A2205G:p.E735E |
RS4418629 |
LDL cholesterol:HDL cholesterol:LDL
cholesterol change with statins:Advanced age-related macular
degeneration:Adiponectin levels |
|
1 |
27679797 |
1 |
SYTL1 |
A |
G |
exonic |
nonsynonymous SNV |
SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R |
RS3813795 |
Eye color:Rheumatoid arthritis:LDL
cholesterol:Premature ovarian failure:Barnes Akathisia Rating Scale:Gene
expression of MAP3K6 in liver:Gene expression of SYTL1 in blood:Gene
expression of MAP3K6 in blood:Birth weight:Pulmonary arterial hypertension (PAH):Adiponectin
levels |
|
1 |
27680292 |
1 |
SYTL1 |
A |
G |
exonic |
synonymous SNV |
SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E |
RS8533 |
Total cholesterol:Adiponectin levels |
|
1 |
27875824 |
2 |
AHDC1 |
C |
T |
exonic |
nonsynonymous SNV |
AHDC1:NM_001029882:exon6:c.G2803A:p.A935T |
RS4908364 |
Cystatin C in serum |
|
1 |
27876482 |
2 |
AHDC1 |
C |
A |
exonic |
synonymous SNV |
AHDC1:NM_001029882:exon6:c.G2145T:p.P715P |
RS2076457 |
Triglycerides:Premature ovarian
failure:Waist hip ratio:PROP taste detection threshold |
|
1 |
28800380 |
1 |
PHACTR4 |
C |
A |
exonic |
nonsynonymous SNV |
PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I,PHACTR4:NM_001350158:exon8:c.C1162A:p.L388I,PHACTR4:NM_001350160:exon8:c.C1138A:p.L380I,PHACTR4:NM_001350161:exon8:c.C1090A:p.L364I,PHACTR4:NM_001350159:exon9:c.C1162A:p.L388I |
RS61785974 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
28861636 |
1 |
RCC1 |
G |
A |
exonic |
synonymous SNV |
RCC1:NM_001269:exon5:c.G516A:p.V172V,RCC1:NM_001048194:exon6:c.G609A:p.V203V,RCC1:NM_001048195:exon6:c.G567A:p.V189V,RCC1:NM_001048199:exon7:c.G516A:p.V172V |
RS2066726 |
Gene expression of PHACTR4 in
Cerebellum:Gene expression of ATPIF1 in Caudal pons:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular degeneration
(geographic atrophy):Years of education |
|
1 |
28891260 |
1 |
TRNAU1AP |
T |
C |
exonic |
synonymous SNV |
TRNAU1AP:NM_017846:exon5:c.T324C:p.D108D |
|
1 |
29475341 |
2 |
SRSF4 |
C |
T |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.G1066A:p.G356S |
RS2230678 |
Stabilized warfarin dose:Premature
ovarian failure:2 hour glucose:Total cholesterol:Autism with verbal
ability:Autism:HDL cholesterol:Infant head circumference:Transmission
distortion:Mitral annular calcium |
|
1 |
29475394 |
2 |
SRSF4 |
C |
G |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.G1013C:p.G338A |
RS2230677 |
Total cholesterol:Autism with
verbal ability:Autism:HDL cholesterol:Infant head circumference:Mitral
annular calcium |
|
1 |
29475648 |
2 |
SRSF4 |
T |
G |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.A759C:p.E253D |
RS2230679 |
Autism |
|
1 |
29529699 |
2 |
MECR |
T |
C |
exonic |
synonymous SNV |
MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A |
RS1062924 |
Triglycerides change with
statins:Total cholesterol:HDL cholesterol:Mitral annular calcium:Infant head
circumference |
|
1 |
29542637 |
2 |
MECR |
A |
G |
exonic |
nonsynonymous SNV |
MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L |
RS1128400 |
Premature ovarian
failure:Triglycerides change with statins:Triglycerides change with
statins:Total cholesterol:Autism:HDL cholesterol:Gene expression of SFRS4 in
blood:Transmission distortion:Mitral annular calcium:Maternal transmission
distortion:Paternal transmission distortion:Infant head circumference |
|
1 |
30872602 |
2 |
|
1 |
31426815 |
2 |
PUM1 |
A |
G |
exonic |
synonymous SNV |
PUM1:NM_001020658:exon15:c.T2337C:p.N779N,PUM1:NM_014676:exon15:c.T2337C:p.N779N |
RS2275741 |
LDL cholesterol:Adiponectin levels |
|
1 |
31898234 |
2 |
SERINC2 |
T |
C |
exonic |
synonymous SNV |
SERINC2:NM_001199037:exon4:c.T462C:p.I154I,SERINC2:NM_018565:exon4:c.T462C:p.I154I,SERINC2:NM_178865:exon4:c.T450C:p.I150I,SERINC2:NM_001199038:exon5:c.T477C:p.I159I,SERINC2:NM_001199039:exon5:c.T285C:p.I95I |
RS4949402 |
Alcohol dependence:Alcohol
dependence:Comorbid depressive syndrome and alcohol dependence:PROP taste
detection threshold:Alcohol dependence:Refractive error |
|
1 |
31898639 |
1 |
SERINC2 |
C |
T |
exonic |
synonymous SNV |
SERINC2:NM_001199037:exon5:c.C501T:p.G167G,SERINC2:NM_018565:exon5:c.C501T:p.G167G,SERINC2:NM_178865:exon5:c.C489T:p.G163G,SERINC2:NM_001199038:exon6:c.C516T:p.G172G,SERINC2:NM_001199039:exon6:c.C324T:p.G108G |
|
1 |
31898687 |
1 |
SERINC2 |
C |
T |
exonic |
synonymous SNV |
SERINC2:NM_001199037:exon5:c.C549T:p.I183I,SERINC2:NM_018565:exon5:c.C549T:p.I183I,SERINC2:NM_178865:exon5:c.C537T:p.I179I,SERINC2:NM_001199038:exon6:c.C564T:p.I188I,SERINC2:NM_001199039:exon6:c.C372T:p.I124I |
|
1 |
31905924 |
1 |
SERINC2 |
G |
A |
exonic |
nonsynonymous SNV |
SERINC2:NM_001199037:exon9:c.G1136A:p.R379Q,SERINC2:NM_018565:exon9:c.G1136A:p.R379Q,SERINC2:NM_178865:exon9:c.G1124A:p.R375Q,SERINC2:NM_001199038:exon10:c.G1151A:p.R384Q,SERINC2:NM_001199039:exon10:c.G959A:p.R320Q |
|
1 |
32096265 |
1 |
PEF1 |
A |
G |
exonic |
synonymous SNV |
PEF1:NM_012392:exon5:c.T804C:p.I268I |
|
1 |
32669918 |
1 |
CCDC28B |
G |
A |
exonic |
nonsynonymous SNV |
CCDC28B:NM_001301011:exon4:c.G463A:p.G155R,CCDC28B:NM_024296:exon4:c.G463A:p.G155R |
|
1 |
33133968 |
2 |
RBBP4 |
T |
C |
exonic |
synonymous SNV |
RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V |
|
1 |
33235651 |
2 |
KIAA1522 |
A |
G |
exonic |
nonsynonymous SNV |
KIAA1522:NM_001198972:exon6:c.A694G:p.M232V,KIAA1522:NM_020888:exon6:c.A871G:p.M291V |
RS12730560 |
Fasting insulin:Gene expression of
S100PBP in blood:Serum ratio of (2-tetradecenoyl
carnitine)/(gamma-tocopherol):PROP taste detection threshold:Bipolar
disorder:Infant head circumference |
|
1 |
33236360 |
1 |
KIAA1522 |
G |
A |
exonic |
nonsynonymous SNV |
KIAA1522:NM_001198972:exon6:c.G1403A:p.R468H,KIAA1522:NM_020888:exon6:c.G1580A:p.R527H |
|
1 |
33245802 |
2 |
YARS |
C |
G |
exonic |
synonymous SNV |
YARS:NM_003680:exon11:c.G1218C:p.L406L |
RS699005 |
HOMA-B:Fasting insulin:Infant head
circumference |
|
1 |
33402515 |
2 |
RNF19B |
C |
T |
exonic |
synonymous SNV |
RNF19B:NM_001300826:exon9:c.G2088A:p.S696S,RNF19B:NM_153341:exon9:c.G2091A:p.S697S |
|
1 |
33402542 |
2 |
RNF19B |
G |
C |
exonic |
synonymous SNV |
RNF19B:NM_001300826:exon9:c.C2061G:p.P687P,RNF19B:NM_153341:exon9:c.C2064G:p.P688P |
|
1 |
35864490 |
1 |
ZMYM4 |
T |
C |
exonic |
synonymous SNV |
ZMYM4:NM_001350140:exon20:c.T2307C:p.D769D,ZMYM4:NM_005095:exon22:c.T3279C:p.D1093D,ZMYM4:NM_001350138:exon23:c.T3183C:p.D1061D,ZMYM4:NM_001350139:exon23:c.T2307C:p.D769D |
|
1 |
36359669 |
1 |
AGO1 |
A |
G |
exonic |
synonymous SNV |
AGO1:NM_001317123:exon6:c.A456G:p.P152P,AGO1:NM_012199:exon6:c.A681G:p.P227P |
RS2296470 |
Comorbid depressive syndrome and
alcohol dependence |
|
1 |
36553673 |
2 |
TEKT2 |
A |
G |
exonic |
synonymous SNV |
TEKT2:NM_014466:exon10:c.A1179G:p.T393T |
RS399393 |
HOMA-B:Fasting insulin:HOMA-IR:LDL
cholesterol:Waist hip ratio |
|
1 |
36557619 |
1 |
ADPRHL2 |
G |
A |
exonic |
nonsynonymous SNV |
ADPRHL2:NM_017825:exon4:c.G625A:p.E209K |
RS2236387 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Comorbid depressive syndrome and alcohol
dependence |
|
1 |
36638206 |
1 |
MAP7D1 |
G |
A |
exonic |
nonsynonymous SNV |
MAP7D1:NM_001286365:exon4:c.G602A:p.R201Q,MAP7D1:NM_001286366:exon4:c.G602A:p.R201Q,MAP7D1:NM_018067:exon4:c.G602A:p.R201Q |
|
1 |
36642420 |
2 |
MAP7D1 |
T |
C |
exonic |
synonymous SNV |
MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S |
|
1 |
36752433 |
2 |
THRAP3 |
C |
T |
exonic |
nonsynonymous SNV |
THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V |
RS6425977 |
Spine bone mineral density
(BMD):HDL cholesterol change with statins:Waist hip ratio:Gene expression of
MAP7D1 in blood:Serum concentration of creatine:Diabetic retinopathy in Type
2 diabetes mellitus |
|
1 |
38148765 |
1 |
C1orf109 |
A |
G |
exonic |
nonsynonymous SNV |
C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H |
RS684260 |
Neuroticism:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration:Birth weight |
|
1 |
38449910 |
1 |
SF3A3 |
T |
C |
exonic |
synonymous SNV |
SF3A3:NM_001320830:exon4:c.A240G:p.E80E,SF3A3:NM_006802:exon6:c.A399G:p.E133E |
|
1 |
38485007 |
1 |
UTP11 |
C |
T |
exonic |
synonymous SNV |
UTP11:NM_016037:exon6:c.C519T:p.T173T |
|
1 |
39466726 |
1 |
AKIRIN1 |
T |
C |
exonic |
synonymous SNV |
AKIRIN1:NM_024595:exon3:c.T444C:p.Y148Y |
|
1 |
40349131 |
1 |
TRIT1 |
G |
A |
exonic |
synonymous SNV |
TRIT1:NM_001312691:exon1:c.C33T:p.P11P,TRIT1:NM_001312692:exon1:c.C33T:p.P11P,TRIT1:NM_017646:exon1:c.C33T:p.P11P |
|
1 |
40533266 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G |
|
1 |
40533287 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G |
|
1 |
40533326 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D |
|
1 |
40533347 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A |
|
1 |
40705726 |
1 |
RLF |
A |
T |
exonic |
nonsynonymous SNV |
RLF:NM_012421:exon8:c.A5352T:p.E1784D |
RS10889205 |
Gene expression of CAP1 [probe
213798_s_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Serum
creatinine:Triglycerides |
|
1 |
40737589 |
1 |
ZMPSTE24 |
T |
C |
exonic |
synonymous SNV |
ZMPSTE24:NM_005857:exon6:c.T651C:p.D217D |
RS2076697 |
Rheumatoid arthritis:Longstanding
arthritis:Gene expression of ZMPSTE24 in blood:Tetrology of fallot |
|
1 |
40766943 |
1 |
COL9A2 |
G |
T |
exonic |
nonsynonymous SNV |
COL9A2:NM_001852:exon32:c.C1981A:p.P661T |
|
1 |
40881041 |
2 |
SMAP2 |
C |
G |
exonic |
synonymous SNV |
SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S |
RS209606 |
Infant head circumference:Advanced
age-related macular degeneration:Personality disorders (PD) - Cluster C |
|
1 |
41204569 |
2 |
NFYC |
C |
T |
exonic |
synonymous SNV |
NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S |
RS1057925 |
HOMA-IR:Gene expression of NFYC in
normal prepouch ileum |
|
1 |
41327705 |
1 |
CITED4 |
A |
T |
exonic |
nonsynonymous SNV |
CITED4:NM_133467:exon1:c.T95A:p.L32Q |
|
1 |
42693597 |
1 |
FOXJ3 |
A |
G |
exonic |
nonsynonymous SNV |
FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A |
RS343376 |
Differential exon level expression
of FOXJ3 [probe 2408886] in brain cortex:Differential exon level expression
of FOXJ3 [probe 2408880] in brain cortex:Differential exon level expression
of FOXJ3 [probe 2408896] in brain cortex:Differential exon level expression
of GUCA2B [probe 2332488] in brain cortex:2 hour glucose:Chronic kidney
disease:Lp-PLA2 mass:Height:Waist hip ratio:Neuroblastoma (brain
cancer):Adiponectin levels:Obsessive-compulsive disorder (OCD) |
|
1 |
43201534 |
1 |
CLDN19 |
G |
A |
exonic |
nonsynonymous SNV |
CLDN19:NM_001185117:exon3:c.C556T:p.R186C |
|
1 |
43212431 |
2 |
P3H1 |
A |
G |
exonic |
synonymous SNV |
P3H1:NM_022356:exon15:c.T2148C:p.G716G |
|
1 |
43212680 |
1 |
P3H1 |
G |
A |
exonic |
nonsynonymous SNV |
P3H1:NM_001243246:exon14:c.C2318T:p.T773I |
|
1 |
43408966 |
1 |
SLC2A1 |
G |
A |
exonic |
synonymous SNV |
SLC2A1:NM_006516:exon2:c.C45T:p.A15A |
RS1385129 |
2 hour glucose:Fasting blood
glucose:Rheumatoid arthritis:Acute lung injury following major trauma |
|
1 |
44071221 |
1 |
PTPRF |
G |
A |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V |
RS631248 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Gene expression of CCDC24 in peripheral blood
monocytes |
|
1 |
44083507 |
1 |
PTPRF |
T |
C |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G |
RS641365 |
Irritible bowel
syndrome:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Lp-PLA2
activity:Gene expression of CCDC24 in peripheral blood monocytes:Gene
expression of GPR146 in peripheral blood monocytes:Serum ratio of
(lathosterol)/(scyllo-inositol):Diastolic blood pressure (DBP):Years of
education |
|
1 |
44083519 |
1 |
PTPRF |
G |
A |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R |
|
1 |
44084739 |
1 |
PTPRF |
C |
T |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R |
|
1 |
44086831 |
1 |
PTPRF |
C |
T |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y |
|
1 |
44137257 |
1 |
KDM4A |
C |
A |
exonic |
nonsynonymous SNV |
KDM4A:NM_014663:exon11:c.C1445A:p.A482E |
RS586339 |
Simpson-Angus Scale:Fasting blood
glucose:Years of education:Refractive error |
|
1 |
44415415 |
1 |
IPO13 |
C |
T |
exonic |
synonymous SNV |
IPO13:NM_014652:exon2:c.C411T:p.D137D |
|
1 |
44415424 |
1 |
IPO13 |
A |
G |
exonic |
synonymous SNV |
IPO13:NM_014652:exon2:c.A420G:p.P140P |
|
1 |
44440769 |
1 |
ATP6V0B |
G |
C |
exonic |
synonymous SNV |
ATP6V0B:NM_001294333:exon1:c.G57C:p.A19A,ATP6V0B:NM_004047:exon1:c.G57C:p.A19A |
|
1 |
44447413 |
1 |
B4GALT2 |
G |
C |
exonic |
nonsynonymous SNV |
B4GALT2:NM_001005417:exon3:c.G366C:p.Q122H,B4GALT2:NM_003780:exon3:c.G366C:p.Q122H,B4GALT2:NM_030587:exon3:c.G453C:p.Q151H |
RS1859728 |
HDL cholesterol |
|
1 |
44451234 |
1 |
B4GALT2 |
C |
T |
exonic |
synonymous SNV |
B4GALT2:NM_001005417:exon6:c.C909T:p.I303I,B4GALT2:NM_003780:exon6:c.C909T:p.I303I,B4GALT2:NM_030587:exon6:c.C996T:p.I332I |
|
1 |
44461822 |
1 |
CCDC24 |
C |
T |
exonic |
nonsynonymous SNV |
CCDC24:NM_001349129:exon7:c.C512T:p.A171V,CCDC24:NM_001349128:exon8:c.C950T:p.A317V,CCDC24:NM_001349127:exon9:c.C910T:p.P304S,CCDC24:NM_152499:exon9:c.C914T:p.A305V |
|
1 |
45218895 |
1 |
KIF2C |
A |
T |
exonic |
synonymous SNV |
KIF2C:NM_001297656:exon5:c.A369T:p.R123R,KIF2C:NM_001297657:exon5:c.A192T:p.R64R,KIF2C:NM_006845:exon6:c.A531T:p.R177R |
RS3795713 |
Cystatin C in serum:Gene expression
of UROD in peripheral blood monocytes:Serum ratio of
(phenylacetate)/(theobromine):Transmission distortion |
|
1 |
45224998 |
1 |
KIF2C |
A |
C |
exonic |
nonsynonymous SNV |
KIF2C:NM_001297655:exon13:c.A1222C:p.I408L,KIF2C:NM_001297656:exon13:c.A1183C:p.I395L,KIF2C:NM_001297657:exon13:c.A1006C:p.I336L,KIF2C:NM_006845:exon14:c.A1345C:p.I449L |
RS4342887 |
Gene expression of NCRNA00082 in
blood:Gene expression of RNU5D-1 in normal prepouch ileum |
|
1 |
45226084 |
1 |
KIF2C |
G |
A |
exonic |
synonymous SNV |
KIF2C:NM_001297655:exon14:c.G1377A:p.A459A,KIF2C:NM_001297656:exon14:c.G1338A:p.A446A,KIF2C:NM_001297657:exon14:c.G1161A:p.A387A,KIF2C:NM_006845:exon15:c.G1500A:p.A500A |
RS1140279 |
Gene expression of RNU5D-1 in
normal prepouch ileum:Gene expression of KIF2C (ENSG00000142945) in dendritic
cells treated with Mycobacterium tuberculosis |
|
1 |
45270024 |
1 |
PLK3 |
G |
C |
exonic |
synonymous SNV |
PLK3:NM_004073:exon12:c.G1356C:p.P452P |
RS11211036 |
Carboplatin IC50 in B
lymphoblastoid cell lines:Gene expression of PLK3 (ENSG00000173846) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression
change of KIF2C (ENSG00000142945) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
1 |
45444038 |
2 |
EIF2B3 |
G |
A |
exonic |
synonymous SNV |
EIF2B3:NM_001166588:exon3:c.C243T:p.D81D,EIF2B3:NM_001261418:exon3:c.C243T:p.D81D,EIF2B3:NM_020365:exon3:c.C243T:p.D81D |
RS11556200 |
Fasting blood glucose:Triglycerides
change with statins:HDL cholesterol change with statins:Gene expression of
UROD in peripheral blood monocytes:Gene expression of PTHLH in peripheral
blood monocytes:Height:Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(glycerol):Infant
head circumference |
|
1 |
45469176 |
1 |
HECTD3 |
A |
T |
exonic |
synonymous SNV |
HECTD3:NM_024602:exon21:c.T2574A:p.P858P |
|
1 |
45476663 |
2 |
HECTD3 |
G |
A |
exonic |
synonymous SNV |
HECTD3:NM_024602:exon1:c.C267T:p.L89L |
|
1 |
45800156 |
1 |
MUTYH |
C |
T |
exonic |
nonsynonymous SNV |
MUTYH:NM_001048171:exon2:c.G64A:p.V22M,MUTYH:NM_001048172:exon2:c.G22A:p.V8M,MUTYH:NM_001048173:exon2:c.G22A:p.V8M,MUTYH:NM_001048174:exon2:c.G22A:p.V8M,MUTYH:NM_001128425:exon2:c.G64A:p.V22M,MUTYH:NM_001293190:exon2:c.G64A:p.V22M,MUTYH:NM_001293191:exon2:c.G22A:p.V8M,MUTYH:NM_012222:exon2:c.G64A:p.V22M,MUTYH:NM_001293195:exon3:c.G22A:p.V8M |
RS3219484 |
Celiac disease:Serum
creatinine:Gene expression of UROD in peripheral blood monocytes:LDL
cholesterol:Gene expression of TOE1///TESK2 in blood:Serum ratio of
(phenylacetylglutamine)/(riboflavin (Vitamin B2)):Serum concentration of
erythrose |
|
1 |
45806768 |
1 |
TOE1 |
T |
G |
exonic |
nonsynonymous SNV |
TOE1:NM_025077:exon2:c.T76G:p.S26A |
|
1 |
45810865 |
1 |
TESK2 |
G |
A |
exonic |
nonsynonymous SNV |
TESK2:NM_001320800:exon10:c.C1114T:p.R372C,TESK2:NM_007170:exon11:c.C1363T:p.R455C |
|
1 |
45973928 |
1 |
MMACHC |
G |
A |
exonic |
synonymous SNV |
MMACHC:NM_001330540:exon3:c.G150A:p.V50V,MMACHC:NM_015506:exon3:c.G321A:p.V107V |
RS2275276 |
Gene expression of Hs.396207 in
CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1560263_at in
lymphoblastoid cell lines:Gene expression of MUTYH [probe 207727_s_at] in
lymphoblastoid cell lines:Fasting blood glucose:HDL cholesterol:Gene expression
of UROD [probe 208971_at] in prefrontal cortex:Lp-PLA2 mass:Gene expression
of MUTYH in peripheral blood monocytes:Gene expression of NASP in peripheral
blood monocytes:Gene expression of UROD in peripheral blood monocytes:Gene
expression of TESK2 in peripheral blood monocytes:Gene expression of MRPS22
in peripheral blood monocytes:Autism:Autism without verbal
ability:Height:Serum concentration of heme*:Gene expression of MMACHC
(probeID ILMN_1803005) in cerebellum in Alzheimer's disease cases and controls:Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of MMACHC (probeID
ILMN_1803005) in temporal cortex in Alzheimer's disease cases and controls |
|
1 |
46073489 |
1 |
NASP |
G |
A |
exonic |
synonymous SNV |
NASP:NM_001195193:exon4:c.G714A:p.P238P,NASP:NM_002482:exon6:c.G906A:p.P302P |
RS2230657 |
Gene expression of AKR1A1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:Cystatin C in
serum:HDL cholesterol:Height:Body mass index (BMI) |
|
1 |
46078854 |
2 |
NASP |
A |
G |
exonic |
synonymous SNV |
NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S |
RS2230658 |
Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.390503 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-IR:Fasting blood
glucose:Fasting insulin:Cystatin C in serum:Serum
creatinine:Autism:Height:Body mass index (BMI):Gene expression of IPP
(probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Allele-specific Expression Patterns in human glioblastoma
cell line U87MG:Aortic valve calcium:Gene expression of IPP (probeID
ILMN_1789106) in cerebellum in Alzheimer's disease cases and controls |
|
1 |
46078884 |
2 |
NASP |
C |
T |
exonic |
synonymous SNV |
NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T |
RS2230659 |
Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of IPP [probe
1554740_a_at] in lymphoblastoid cell lines:Gene expression of probe
1560263_at in lymphoblastoid cell lines:Gene expression of IPP in
lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell
lines:HOMA-IR:Fasting blood glucose:Fasting insulin:Cystatin C in serum:Serum
creatinine:Height:Body mass index (BMI):Aortic valve calcium:Gene expression
of IPP (probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of IPP (probeID ILMN_1789106) in cerebellum in
Alzheimer's disease cases and controls:Years of education |
|
1 |
46476587 |
1 |
MAST2 |
T |
G |
exonic |
nonsynonymous SNV |
MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E |
RS11211247 |
HOMA-B:Gene expression of NASP in
peripheral blood monocytes:HDL cholesterol:Waist hip ratio:Serum
concentration of acetylphosphate:Birth weight:Transmission
distortion:Paternal transmission distortion:Advanced age-related macular
degeneration |
|
1 |
46493460 |
1 |
MAST2 |
T |
G |
exonic |
nonsynonymous SNV |
MAST2:NM_001319245:exon17:c.T1977G:p.I659M,MAST2:NM_001324321:exon17:c.T1515G:p.I505M,MAST2:NM_015112:exon17:c.T1977G:p.I659M,MAST2:NM_001324320:exon18:c.T1998G:p.I666M |
RS1707336 |
Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LOC126661 [probe
1559003_a_at] in lymphoblastoid cell lines:Gene expression of probe
1560263_at in lymphoblastoid cell lines:Gene expression of IPP [probe 219843_at]
in lymphoblastoid cell lines:Rheumatoid arthritis:Longstanding
arthritis:Fasting blood glucose:Cystatin C in serum:Autism:HDL
cholesterol:Height:Body mass index (BMI):Hypertension (early onset
hypertension):Transmission distortion:Birth weight:Infant head circumference |
|
1 |
46496709 |
2 |
MAST2 |
A |
G |
exonic |
synonymous SNV |
MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S |
RS925524 |
Gene expression of Hs.396207 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at
in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Cystatin C in
serum:Rheumatoid arthritis:Height:Body mass index (BMI):Lung function, forced
expiratory volume in 1 second (FEV1) percent predicted (in asthmatic
participants):Years of education |
|
1 |
46498375 |
2 |
MAST2 |
A |
G |
exonic |
synonymous SNV |
MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V |
RS1622208 |
Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at
in lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell
lines:Gene expression of IPP in lymphoblastoid cell lines:Hip bone mineral
density (BMD):Rheumatoid arthritis:Longstanding arthritis:Arthritis including
non-Rheumatoid:HOMA-IR:Fasting insulin:Fasting blood glucose:Cystatin C in
serum:Rheumatoid arthritis:Height:Body mass index (BMI):Comorbid depressive
syndrome and alcohol dependence:Hypertension (early onset hypertension):Years
of education:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Obesity with early age of onset (age >2) |
|
1 |
46500613 |
1 |
MAST2 |
T |
C |
exonic |
synonymous SNV |
MAST2:NM_001319245:exon29:c.T4269C:p.T1423T,MAST2:NM_001324321:exon29:c.T3810C:p.T1270T,MAST2:NM_015112:exon29:c.T4272C:p.T1424T,MAST2:NM_001324320:exon30:c.T4293C:p.T1431T |
|
1 |
46501359 |
1 |
MAST2 |
A |
G |
exonic |
nonsynonymous SNV |
MAST2:NM_001319245:exon29:c.A5015G:p.K1672R,MAST2:NM_001324321:exon29:c.A4556G:p.K1519R,MAST2:NM_015112:exon29:c.A5018G:p.K1673R,MAST2:NM_001324320:exon30:c.A5039G:p.K1680R |
|
1 |
46655158 |
2 |
POMGNT1 |
T |
C |
exonic |
nonsynonymous SNV |
POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V |
|
1 |
46660295 |
1 |
POMGNT1 |
T |
C |
exonic |
synonymous SNV |
POMGNT1:NM_001290129:exon7:c.A615G:p.K205K,POMGNT1:NM_001290130:exon7:c.A252G:p.K84K,POMGNT1:NM_001243766:exon8:c.A681G:p.K227K,POMGNT1:NM_017739:exon8:c.A681G:p.K227K |
RS2292487 |
Gene expression of FAAH in
blood:Gene expression of NSUN4 in blood:Gene expression of C1orf190 [probeset
235214_at] in sputum:Obesity with early age of onset (age >2):Decrease in
FEV1/FVC ratio (in asthmatic participants):Maternal transmission distortion |
|
1 |
46810530 |
1 |
NSUN4 |
A |
G |
exonic |
nonsynonymous SNV |
NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A |
RS3737744 |
Gene expression of NSUN4 [probe
226351_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Total
cholesterol change with statins:Lp-PLA2 activity:Gene expression of NSUN4 in
blood:Gene expression of NSUN4 [probeset 230023_at] in sputum:PROP taste detection
threshold:Gene expression of NSUN4 in normal prepouch ileum:Transmission
distortion:Maternal transmission distortion:Aortic valve calcium |
|
1 |
46870761 |
1 |
FAAH |
C |
A |
exonic |
nonsynonymous SNV |
FAAH:NM_001441:exon3:c.C385A:p.P129T |
RS324420 |
Stabilized warfarin dose:Barnes
Akathisia Rating Scale:Neuroblastoma (brain cancer):Late onset Alzheimer's
disease:Gene expression of MOBKL2C in blood:Gene expression of FAAH in
blood:Gene expression of MKNK1 in blood:Gene expression of NSUN4 in blood:Serum
ratio of (allantoin)/(fructose):Comorbid depressive syndrome and alcohol
dependence:Years of education:Tetrology of fallot |
|
1 |
46871986 |
2 |
FAAH |
T |
C |
exonic |
synonymous SNV |
FAAH:NM_001441:exon7:c.T897C:p.C299C |
RS324419 |
LDL cholesterol:Premature ovarian
failure:Cystatin C in serum:Gene expression of NSUN4 in blood:Serum ratio of
(cholesterol)/(cysteine-glutathione disulfide) |
|
1 |
47078637 |
2 |
MOB3C |
T |
C |
exonic |
synonymous SNV |
MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A |
|
1 |
47133811 |
2 |
ATPAF1 |
T |
C |
exonic |
nonsynonymous SNV |
ATPAF1:NM_001042546:exon1:c.A253G:p.S85G,ATPAF1:NM_022745:exon1:c.A253G:p.S85G |
|
1 |
47717189 |
1 |
STIL |
A |
G |
exonic |
synonymous SNV |
STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P,STIL:NM_001282936:exon18:c.T3483C:p.P1161P,STIL:NM_001282937:exon18:c.T3432C:p.P1144P,STIL:NM_001282938:exon19:c.T3345C:p.P1115P,STIL:NM_001282939:exon19:c.T3291C:p.P1097P |
RS2758735 |
Rheumatoid arthritis:Height |
|
1 |
47799639 |
1 |
CMPK1 |
G |
C |
exonic |
nonsynonymous SNV |
CMPK1:NM_001136140:exon1:c.G22C:p.G8R,CMPK1:NM_016308:exon1:c.G22C:p.G8R |
|
1 |
48697733 |
2 |
SLC5A9 |
T |
G |
exonic |
nonsynonymous SNV |
SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M |
|
1 |
48697751 |
1 |
SLC5A9 |
C |
T |
exonic |
synonymous SNV |
SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S |
|
1 |
48847497 |
2 |
|
1 |
51873951 |
1 |
EPS15 |
G |
A |
exonic |
synonymous SNV |
EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y |
RS1065754 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Gene expression of EPS15 in blood |
|
1 |
52264064 |
1 |
NRDC |
A |
G |
exonic |
synonymous SNV |
NRDC:NM_001101662:exon22:c.T2461C:p.L821L,NRDC:NM_001242361:exon24:c.T2269C:p.L757L,NRDC:NM_002525:exon24:c.T2665C:p.L889L |
RS1770791 |
LDL cholesterol:Simpson-Angus
Scale:Abnormal Involuntary Movement Scale:Gene expression of CC2D1B in
peripheral blood monocytes:Autism:Gene expression of NRD1 [transcript
NM_001101662, probe A_23_P23006] in liver:Alcohol dependence:Gene expression
of NRD1 in blood:Serum ratio of (3-methoxytyrosine)/(bilirubin (Z,Z)):Serum
ratio of (1-palmitoylglycerophosphocholine)/(3-methoxytyrosine):Comorbid
depressive syndrome and alcohol dependence:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG:Hypertension (early onset
hypertension) |
|
1 |
52266242 |
1 |
NRDC |
G |
A |
exonic |
synonymous SNV |
NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P |
RS8375 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Birth weight:Years of
education:Parkinson's disease |
|
1 |
52290984 |
1 |
NRDC |
T |
G |
exonic |
synonymous SNV |
NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G |
RS11205896 |
HDL cholesterol change with
statins:Nicotine dependence (smoking), cigarettes per day:Waist hip
ratio:Parkinson's disease:Birth weight |
|
1 |
52991638 |
1 |
ZCCHC11 |
C |
T |
exonic |
synonymous SNV |
ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P |
|
1 |
53072454 |
2 |
GPX7 |
T |
C |
exonic |
synonymous SNV |
GPX7:NM_015696:exon2:c.T237C:p.F79F |
|
1 |
53250650 |
2 |
ZYG11B |
G |
A |
exonic |
synonymous SNV |
ZYG11B:NM_024646:exon5:c.G1194A:p.G398G |
|
1 |
53563589 |
2 |
|
1 |
53676448 |
2 |
CPT2 |
G |
A |
exonic |
nonsynonymous SNV |
CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I |
RS1799821 |
Hip bone mineral density (BMD):Gene
expression of C1orf123 [probe 2413153] in peripheral blood mononuclear
cells:Total cholesterol:Gene expression of CPT2 in peripheral blood
monocytes:HDL cholesterol:Waist hip ratio:Gene expression of CPT2///C1orf123
in blood:Serum ratio of (bradykinin, des-arg(9))/(gamma-tocopherol):Bipolar
disorder:Sporadic Creutzfeldt-Jakob disease:Years of education |
|
1 |
53716416 |
2 |
LRP8 |
G |
A |
exonic |
synonymous SNV |
LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D |
RS3737983 |
Hip bone mineral density (BMD):Gene
expression of C1orf123 [probe 2413153] in peripheral blood mononuclear
cells:Serum creatinine:Asthma:Waist hip ratio:Gene expression of C1orf123
[probe ILMN_28661] in osteoblasts treated with PGE2:Gene expression of CPT2///C1orf123
in blood:Serum ratio of (bradykinin, des-arg(9))/(taurocholate):Gene
expression of C1ORF123 in liver:Years of education |
|
1 |
54359922 |
1 |
DIO1 |
C |
T |
exonic |
synonymous SNV |
DIO1:NM_001039715:exon1:c.C39T:p.L13L,DIO1:NM_001324316:exon1:c.C39T:p.L13L |
|
1 |
54432019 |
1 |
LRRC42 |
G |
A |
exonic |
synonymous SNV |
LRRC42:NM_052940:exon7:c.G978A:p.E326E,LRRC42:NM_001256409:exon8:c.G978A:p.E326E |
RS2294514 |
Total cholesterol:Triglycerides
change with statins:Gene expression of C1orf41 [probe 215691_x_at] in
prefrontal cortex:Rheumatoid arthritis:Waist hip ratio:Serum ratio of
(arabinose)/(glutaroyl carnitine):Maternal transmission distortion |
|
1 |
55072915 |
1 |
ACOT11 |
G |
A |
exonic |
synonymous SNV |
ACOT11:NM_015547:exon14:c.G1479A:p.S493S,ACOT11:NM_147161:exon14:c.G1479A:p.S493S |
|
1 |
55075122 |
1 |
FAM151A |
C |
G |
exonic |
nonsynonymous SNV |
FAM151A:NM_176782:exon8:c.G1577C:p.G526A |
RS11206394 |
Total cholesterol:Systolic blood
pressure (SBP):Infant head circumference |
|
1 |
55075341 |
1 |
FAM151A |
G |
A |
exonic |
nonsynonymous SNV |
FAM151A:NM_176782:exon8:c.C1358T:p.S453L |
|
1 |
55182300 |
2 |
TTC4 |
T |
A |
exonic |
nonsynonymous SNV |
TTC4:NM_001291333:exon2:c.T139A:p.S47T,TTC4:NM_004623:exon2:c.T139A:p.S47T |
RS1147990 |
Waist hip ratio:Gene expression of
PARS2 (ENSG00000162396) in dendritic cells |
|
1 |
55319902 |
1 |
DHCR24 |
A |
G |
exonic |
synonymous SNV |
DHCR24:NM_014762:exon7:c.T1026C:p.I342I |
RS718265 |
Gene expression of SUV420H2 in
peripheral blood monocytes:Serum ratio of (laurylcarnitine)/(phenyllactate
(PLA)):Transmission distortion |
|
1 |
55523033 |
2 |
PCSK9 |
A |
G |
exonic |
synonymous SNV |
PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q |
|
1 |
55524197 |
2 |
PCSK9 |
A |
G |
exonic |
synonymous SNV |
PCSK9:NM_174936:exon9:c.A1380G:p.V460V |
RS540796 |
LDL cholesterol:Total cholesterol
change with statins:Total cholesterol:LDL cholesterol:College completion |
|
1 |
55524237 |
2 |
PCSK9 |
G |
A |
exonic |
nonsynonymous SNV |
PCSK9:NM_174936:exon9:c.G1420A:p.V474I |
RS562556 |
HDL cholesterol:Total cholesterol
change with statins:Total cholesterol:LDL cholesterol:College completion:LDL
cholesterol |
|
1 |
55529187 |
2 |
PCSK9 |
G |
A |
exonic |
nonsynonymous SNV |
PCSK9:NM_174936:exon12:c.G2009A:p.G670E |
RS505151 |
LDL cholesterol:LDL cholesterol
change with statins:2 hour glucose:Total cholesterol:LDL cholesterol:Total
cholesterol:Serum ratio of
(gamma-glutamylisoleucine*)/(paraxanthine):Comorbid depressive syndrome and
alcohol dependence:LDL cholesterol:LDL cholesterol:LDL cholesterol:Total
cholesterol |
|
1 |
55638075 |
2 |
USP24 |
G |
A |
exonic |
nonsynonymous SNV |
USP24:NM_015306:exon4:c.C677T:p.T226I |
RS1165222 |
Schizophrenia:Differential exon
level expression of USP24 [probe 2413969] in peripheral blood mononuclear
cells:Differential exon level expression of USP24 [probe 2413969] in brain
cortex:Abnormal Involuntary Movement Scale:Total cholesterol change with statins:Total
cholesterol:LDL cholesterol:Primary rhegmatogenous retinal detachment |
|
1 |
57340727 |
1 |
C8A |
C |
A |
exonic |
nonsynonymous SNV |
C8A:NM_000562:exon3:c.C277A:p.Q93K |
RS652785 |
Hip bone mineral density (BMD):LDL
cholesterol:HDL cholesterol change with statins:Hypertension (early onset
hypertension) |
|
1 |
57422484 |
2 |
C8B |
C |
T |
exonic |
nonsynonymous SNV |
C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R |
RS1013579 |
Abnormal Involuntary Movement
Scale:LDL cholesterol:Total cholesterol:Asthma |
|
1 |
59148118 |
1 |
MYSM1 |
A |
T |
exonic |
nonsynonymous SNV |
MYSM1:NM_001085487:exon8:c.T598A:p.C200S |
RS17118103 |
Height |
|
1 |
60019853 |
1 |
FGGY |
C |
T |
exonic |
nonsynonymous SNV |
FGGY:NM_001244714:exon6:c.C593T:p.T198M,FGGY:NM_001350795:exon6:c.C593T:p.T198M,FGGY:NM_001350796:exon7:c.C521T:p.T174M,FGGY:NM_001350797:exon7:c.C455T:p.T152M,FGGY:NM_001350798:exon7:c.C521T:p.T174M,FGGY:NM_001350799:exon7:c.C521T:p.T174M,FGGY:NM_001113411:exon8:c.C857T:p.T286M,FGGY:NM_001350790:exon8:c.C857T:p.T286M,FGGY:NM_001350791:exon8:c.C857T:p.T286M,FGGY:NM_001350794:exon8:c.C857T:p.T286M,FGGY:NM_018291:exon8:c.C857T:p.T286M,FGGY:NM_001350792:exon10:c.C689T:p.T230M,FGGY:NM_001350793:exon10:c.C689T:p.T230M |
|
1 |
62232031 |
2 |
PATJ |
C |
T |
exonic |
synonymous SNV |
PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I |
|
1 |
62330080 |
2 |
PATJ |
T |
G |
exonic |
nonsynonymous SNV |
PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M |
|
1 |
62516683 |
1 |
PATJ |
G |
C |
exonic |
nonsynonymous SNV |
PATJ:NM_001350145:exon31:c.G4078C:p.V1360L,PATJ:NM_176877:exon31:c.G4078C:p.V1360L |
RS2498982 |
Triglycerides:Tardive
dyskinesia:LDL cholesterol change with statins:Total cholesterol change with
statins:Triglycerides:Total cholesterol:LDL cholesterol:Cervical
cancer:Transmission distortion:Paclitaxel-induced cytotoxicity in
lymphoblastoid cell lines:Refractive error |
|
1 |
62579823 |
1 |
PATJ |
G |
A |
exonic |
synonymous SNV |
PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E |
RS1475563 |
Eye color:Triglycerides:Serum
creatinine:LDL cholesterol:Body mass index (BMI) |
|
1 |
62960101 |
1 |
DOCK7 |
A |
G |
exonic |
synonymous SNV |
DOCK7:NM_001272000:exon39:c.T4942C:p.L1648L,DOCK7:NM_001272001:exon39:c.T4942C:p.L1648L,DOCK7:NM_033407:exon39:c.T4969C:p.L1657L,DOCK7:NM_001271999:exon40:c.T5035C:p.L1679L,DOCK7:NM_001330614:exon40:c.T5035C:p.L1679L |
RS10889335 |
LDL cholesterol:Triglycerides:Total
cholesterol:Cystatin C in serum:Serum creatinine:HDL
cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:LDL
cholesterol:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Serum Val/Serum-TG:Serum M-VLDL-FC:Serum FAw67:Serum MobCH:Serum
MobCH3:Serum M-VLDL-C:Advanced age-related macular degeneration:Serum
Gp/Serum-TG:Serum XS-VLDL-TG:Serum VLDL-TG-eFR:Serum MobCH2:Serum Serum-TG |
|
1 |
63999826 |
1 |
EFCAB7 |
C |
T |
exonic |
nonsynonymous SNV |
EFCAB7:NM_032437:exon6:c.C743T:p.T248I |
RS6693255 |
Longstanding arthritis:Gene
expression of ITGB3BP in blood:Gene expression of PGM1 in blood:Variant
Creutzfeldt-Jakob disease |
|
1 |
64021096 |
1 |
EFCAB7 |
G |
A |
exonic |
nonsynonymous SNV |
EFCAB7:NM_032437:exon9:c.G1124A:p.R375K |
RS2273367 |
HDL cholesterol:Rheumatoid
arthritis:Gene expression of PGM1 in blood:Gene expression of ITGB3BP in
blood:Variant Creutzfeldt-Jakob disease |
|
1 |
64114301 |
1 |
PGM1 |
T |
C |
exonic |
nonsynonymous SNV |
PGM1:NM_001172818:exon8:c.T1312C:p.Y438H,PGM1:NM_001172819:exon8:c.T667C:p.Y223H,PGM1:NM_002633:exon8:c.T1258C:p.Y420H |
RS11208257 |
Hip bone mineral density
(BMD):Rheumatoid arthritis:HOMA-B:HDL cholesterol:Gene expression of [probe
290678 centered at chr1:63929404] in blood:Gene expression of PGM1 in blood |
|
1 |
65311262 |
1 |
JAK1 |
G |
A |
exonic |
synonymous SNV |
JAK1:NM_001321852:exon15:c.C2049T:p.S683S,JAK1:NM_001321856:exon15:c.C2049T:p.S683S,JAK1:NM_001321857:exon15:c.C2046T:p.S682S,JAK1:NM_002227:exon15:c.C2049T:p.S683S,JAK1:NM_001320923:exon16:c.C2049T:p.S683S,JAK1:NM_001321854:exon16:c.C2049T:p.S683S,JAK1:NM_001321855:exon16:c.C2049T:p.S683S,JAK1:NM_001321853:exon17:c.C2049T:p.S683S |
RS2230587 |
LDL cholesterol:Childhood acute
lymphoblastic leukemia:Cystatin C in serum:Lp-PLA2 activity:Urinary
albumin-to-creatinine ratio:Microalbuminuria |
|
1 |
65614154 |
2 |
AK4 |
T |
A |
exonic |
nonsynonymous SNV |
AK4:NM_013410:exon1:c.T64A:p.C22S,AK4:NM_001005353:exon2:c.T64A:p.C22S,AK4:NM_203464:exon2:c.T64A:p.C22S |
|
1 |
65690461 |
1 |
AK4 |
G |
A |
exonic |
synonymous SNV |
AK4:NM_001330616:exon4:c.G309A:p.P103P,AK4:NM_013410:exon4:c.G465A:p.P155P,AK4:NM_001005353:exon5:c.G465A:p.P155P,AK4:NM_203464:exon5:c.G465A:p.P155P |
|
1 |
67390468 |
2 |
WDR78 |
C |
G |
exonic |
nonsynonymous SNV |
WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A |
RS1886686 |
Cystatin C in
serum:Height:Microalbuminuria:College completion:Obesity with early age of
onset (age >2):Birth weight |
|
1 |
70820008 |
1 |
ANKRD13C |
C |
T |
exonic |
synonymous SNV |
ANKRD13C:NM_030816:exon1:c.G84A:p.E28E |
|
1 |
74670172 |
2 |
FPGT |
A |
G |
exonic |
synonymous SNV |
FPGT:NM_003838:exon4:c.A480G:p.K160K |
RS12046751 |
Gene expression of MGC22773 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TNNI3K [probe
2342220] in peripheral blood mononuclear cells:LDL cholesterol change with
statins:Partial epilepsy:Gene expression of FPGT [probe ILMN_16365] in osteoblasts
treated with dexamethasone:Gene expression of FPGT [probe ILMN_16365] in
osteoblasts treated with PGE2:Serum ratio of
(gamma-glutamylmethionine*)/(valerate):Bipolar disorder:Gene expression of
FPGT (probeID ILMN_1727878) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of FPGT (probeID ILMN_1727878) in temporal cortex in
Alzheimer's disease cases and controls:Years of education:Gene expression of
TNNI3K in normal prepouch ileum:Tetrology of fallot:Gene expression of LRRIQ3
in normal prepouch ileum |
|
1 |
75172001 |
1 |
CRYZ |
T |
A |
exonic |
synonymous SNV |
CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G |
RS7527057 |
HDL cholesterol change with
statins:Diabetic retinopathy in Type 2 diabetes mellitus:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Aortic valve
calcium:Gene expression of CRYZ (probeID ILMN_1672389) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of CRYZ (probeID
ILMN_1672389) in cerebellum in Alzheimer's disease cases and controls |
|
1 |
75190452 |
1 |
CRYZ |
C |
T |
exonic |
synonymous SNV |
CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G |
RS1051122 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
76257892 |
2 |
RABGGTB |
A |
T |
exonic |
synonymous SNV |
RABGGTB:NM_004582:exon7:c.A606T:p.A202A |
|
1 |
78098003 |
1 |
ZZZ3 |
A |
T |
exonic |
nonsynonymous SNV |
ZZZ3:NM_015534:exon5:c.T1037A:p.M346K |
|
1 |
82421596 |
2 |
ADGRL2 |
C |
T |
exonic |
synonymous SNV |
ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P |
|
1 |
84944989 |
2 |
RPF1 |
A |
G |
exonic |
nonsynonymous SNV |
RPF1:NM_025065:exon1:c.A25G:p.S9G |
RS2292191 |
Simpson-Angus Scale:Gene expression
of SPATA1 in normal prepouch ileum |
|
1 |
85113203 |
2 |
SSX2IP |
T |
C |
exonic |
synonymous SNV |
SSX2IP:NM_001166294:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166295:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166293:exon14:c.A1758G:p.A586A,SSX2IP:NM_001166417:exon15:c.A1758G:p.A586A,SSX2IP:NM_014021:exon15:c.A1758G:p.A586A |
RS2994949 |
Barnes Akathisia Rating
Scale:Fasting blood glucose:Serum creatinine:Rheumatoid arthritis:Bipolar
disorder in alcoholics:Serum ratio of
(2-linoleoylglycerophosphoethanolamine*)/(gamma-glutamylisoleucine*):Parkinson's
disease |
|
1 |
85113229 |
1 |
SSX2IP |
A |
G |
exonic |
nonsynonymous SNV |
SSX2IP:NM_001166294:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166295:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166293:exon14:c.T1732C:p.C578R,SSX2IP:NM_001166417:exon15:c.T1732C:p.C578R,SSX2IP:NM_014021:exon15:c.T1732C:p.C578R |
RS1057746 |
HDL cholesterol:LDL
cholesterol:Barnes Akathisia Rating Scale:Triglycerides:HDL cholesterol:Serum
ratio of (arabinose)/(tetradecanedioate):Years of education:College
completion |
|
1 |
85624549 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon7:c.G3469A:p.V1157I |
|
1 |
85648620 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon3:c.G1705A:p.V569I |
|
1 |
85733374 |
1 |
BCL10 |
C |
T |
exonic |
nonsynonymous SNV |
BCL10:NM_001320715:exon3:c.G605A:p.G202E,BCL10:NM_003921:exon3:c.G638A:p.G213E |
RS3768235 |
Chronic kidney disease |
|
1 |
89322982 |
2 |
GTF2B |
G |
A |
exonic |
synonymous SNV |
GTF2B:NM_001514:exon6:c.C724T:p.L242L |
|
1 |
89426902 |
2 |
KYAT3 |
G |
A |
exonic |
synonymous SNV |
KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S |
RS3738055 |
Gene expression of CCBL2 [probe
209472_at] in lymphoblastoid cell lines:Gene expression of KAT3 [probe
ILMN_1120] in osteoblasts:Lung function, ratio of forced expiratory volume in
1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Cystatin
C in serum:Rheumatoid arthritis:Gene expression of KAT3 in Temporal
cortex:Gene expression of KAT3 in Cerebellum:Gene expression of KAT3 in
Frontal cortex:Gene expression of KAT3 in Caudal pons:Height:Serum ratio of
(1-oleoylglycerol (1-monoolein))/(1,7-dimethylurate):Diastolic blood pressure
(DBP):Salmonella-induced pyroptosis:Gene expression of CCBL2
(ENSG00000137944) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of CCBL2 (probeID ILMN_1778371) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of CCBL2 in
normal prepouch ileum:Advanced age-related macular degeneration:Gene
expression of CCBL2 (probeID ILMN_1778371) in cerebellum in Alzheimer's
disease cases and controls |
|
1 |
90048248 |
1 |
LRRC8B |
C |
T |
exonic |
synonymous SNV |
LRRC8B:NM_015350:exon5:c.C39T:p.A13A,LRRC8B:NM_001134476:exon7:c.C39T:p.A13A |
RS12130207 |
HDL cholesterol:LDL
cholesterol:Serum ratio of (deoxycholate)/(taurodeoxycholate):Prostate
cancer:Adiponectin levels |
|
1 |
90486412 |
2 |
ZNF326 |
T |
G |
exonic |
synonymous SNV |
ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V |
RS2816881 |
HDL cholesterol |
|
1 |
90493026 |
2 |
ZNF326 |
G |
A |
exonic |
synonymous SNV |
ZNF326:NM_181781:exon10:c.G897A:p.E299E,ZNF326:NM_001320185:exon12:c.G1248A:p.E416E,ZNF326:NM_182976:exon12:c.G1515A:p.E505E |
RS10922744 |
HDL cholesterol |
|
1 |
91405699 |
1 |
ZNF644 |
G |
A |
exonic |
synonymous SNV |
ZNF644:NM_201269:exon3:c.C1212T:p.T404T |
|
1 |
92174260 |
2 |
TGFBR3 |
A |
G |
exonic |
synonymous SNV |
TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T |
RS284878 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:Birth weight:Advanced
age-related macular degeneration (geographic atrophy) |
|
1 |
92177938 |
1 |
TGFBR3 |
A |
G |
exonic |
synonymous SNV |
TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F |
RS1805113 |
LDL cholesterol:Barnes Akathisia
Rating Scale:Abnormal Involuntary Movement Scale:Partial
epilepsy:Triglycerides:Neuroblastoma (brain cancer):Gene expression of TGFBR3
in blood:Serum ratio of (gamma-glutamylglutamate)/(mannose):Parkinson's
disease |
|
1 |
92185657 |
1 |
TGFBR3 |
C |
T |
exonic |
synonymous SNV |
TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P |
|
1 |
92647532 |
2 |
KIAA1107 |
C |
A |
exonic |
nonsynonymous SNV |
KIAA1107:NM_015237:exon6:c.C2753A:p.T918N |
|
1 |
92946479 |
2 |
GFI1 |
G |
A |
exonic |
synonymous SNV |
GFI1:NM_001127215:exon4:c.C465T:p.C155C,GFI1:NM_001127216:exon4:c.C465T:p.C155C,GFI1:NM_005263:exon4:c.C465T:p.C155C |
|
1 |
92979354 |
2 |
EVI5 |
A |
G |
exonic |
synonymous SNV |
EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G |
RS6603979 |
Total cholesterol:LDL
cholesterol:Total cholesterol:LDL cholesterol:Height:Multiple sclerosis
severity scale (median):Multiple sclerosis severity scale
(continuous):Multiple sclerosis severity scale (extreme) |
|
1 |
93089823 |
2 |
EVI5 |
T |
C |
exonic |
synonymous SNV |
EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q |
RS7514716 |
Triglycerides change with
statins:Total cholesterol:LDL cholesterol:Height:Systolic blood pressure
(SBP):Years of education |
|
1 |
93580581 |
2 |
MTF2 |
G |
C |
exonic |
nonsynonymous SNV |
MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S |
|
1 |
93620393 |
1 |
TMED5 |
G |
A |
exonic |
nonsynonymous SNV |
TMED5:NM_016040:exon4:c.C524T:p.T175I |
RS1060622 |
Gene expression of probe
1558237_x_at in lymphoblastoid cell lines:Gene expression of LOC100131564
[probe 227074_at] in lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:Schizophrenia:Rheumatoid arthritis:Premature ovarian failure:HDL
cholesterol:Rheumatoid arthritis:Methylation levels at chr1:93583364-93583414
[hg18 coord, probe cg02421543] in Temporal cortex:LDL cholesterol:HDL
cholesterol:Total cholesterol:Asthma:Waist hip ratio:Gene expression of DR1
in blood:Gene expression of TMED5 in blood:Serum ratio of
(deoxycholate)/(ursodeoxycholate):Diastolic blood pressure (DBP):Type 2
diabetes:Years of education |
|
1 |
93672723 |
1 |
CCDC18 |
A |
C |
exonic |
nonsynonymous SNV |
CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T |
RS2815413 |
HDL cholesterol:Tardive
dyskinesia:HDL cholesterol change with statins:Triglycerides change with
statins:HDL cholesterol:LDL cholesterol:Gene expression of TMED5
(ENSG00000117500) in dendritic cells:Advanced age-related macular
degeneration (geographic atrophy):Obesity with early age of onset (age >2) |
|
1 |
94341267 |
2 |
DNTTIP2 |
A |
G |
exonic |
synonymous SNV |
DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F |
|
1 |
94342564 |
1 |
DNTTIP2 |
C |
A |
exonic |
nonsynonymous SNV |
DNTTIP2:NM_014597:exon2:c.G927T:p.E309D |
RS3747965 |
Allergic rhinitis:Atopy:Serum ratio
of (1-palmitoylglycerophosphoinositol*)/(guanosine):Adiponectin levels:Years
of education |
|
1 |
94343023 |
1 |
DNTTIP2 |
A |
G |
exonic |
synonymous SNV |
DNTTIP2:NM_014597:exon2:c.T468C:p.P156P |
RS2391322 |
Serum ratio of
(1-methylurate)/(DSGEGDFXAEGGGVR*):Birth weight |
|
1 |
94343233 |
2 |
DNTTIP2 |
T |
C |
exonic |
synonymous SNV |
DNTTIP2:NM_014597:exon2:c.A258G:p.E86E |
RS3789457 |
Salmonella-induced pyroptosis |
|
1 |
94639447 |
2 |
ARHGAP29 |
C |
T |
exonic |
nonsynonymous SNV |
ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D |
|
1 |
95001600 |
2 |
F3 |
A |
C |
exonic |
synonymous SNV |
F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P |
|
1 |
95330372 |
1 |
SLC44A3 |
G |
A |
exonic |
nonsynonymous SNV |
SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I |
RS859098 |
LDL cholesterol:HDL
cholesterol:Schizophrenia:Premature ovarian failure:Gene expression of
SLC44A3 in Cerebellum:Height:Microalbuminuria:Serum ratio of
(biliverdin)/(HWESASXX*):Taste change in healthy volunteers in response to
topiramate treatment (Normal taste):Gene expression of SLC44A3 (probeID
ILMN_1658498) in cerebellum in Alzheimer's disease cases:Gene expression of
SLC44A3 (probeID ILMN_1658498) in cerebellum in Progressive Supranuclear
Palsy cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum
in non-Alzheimer's disease samples:Gene expression of SLC44A3 (probeID
ILMN_1658498) in cerebellum in Alzheimer's disease cases and controls |
|
1 |
95709821 |
2 |
RWDD3 |
T |
C |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A |
|
1 |
95709939 |
2 |
RWDD3 |
T |
G |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K |
RS2296308 |
Rheumatoid arthritis:Gene
expression of TTC25 in peripheral blood monocytes:Partial
epilepsy:Neuroblastoma (brain cancer):Serum ratio of
(ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Hypertension (early onset
hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid |
|
1 |
98348885 |
2 |
DPYD |
G |
A |
exonic |
nonsynonymous SNV |
DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C |
RS1801265 |
Irritible bowel syndrome:Breast
cancer:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine
ratio:Comorbid depressive syndrome and alcohol dependence:Sporadic
Creutzfeldt-Jakob disease:College completion:Amyotrophic lateral sclerosis
(ALS) age of onset:Years of education:Birth weight |
|
1 |
99127392 |
2 |
SNX7 |
T |
C |
exonic |
synonymous SNV |
SNX7:NM_015976:exon1:c.T105C:p.S35S,SNX7:NM_152238:exon1:c.T105C:p.S35S |
|
1 |
99164434 |
1 |
SNX7 |
G |
A |
exonic |
synonymous SNV |
SNX7:NM_152238:exon5:c.G846A:p.E282E,SNX7:NM_015976:exon6:c.G1011A:p.E337E |
RS6577322 |
Rheumatoid
arthritis:HOMA-IR:Childhood acute lymphoblastic leukemia:Gene expression of
ABLIM3 in peripheral blood monocytes:Adiponectin levels:Birth weight |
|
1 |
99225627 |
1 |
SNX7 |
G |
A |
exonic |
synonymous SNV |
SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E |
|
1 |
100203693 |
1 |
FRRS1 |
G |
A |
exonic |
synonymous SNV |
FRRS1:NM_001013660:exon7:c.C708T:p.S236S |
RS7514021 |
Asthma:Gene expression of FRRS1 in
normal prepouch ileum:Years of education:College completion |
|
1 |
100336361 |
1 |
AGL |
C |
T |
exonic |
synonymous SNV |
AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L |
RS2230306 |
LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
1 |
100575933 |
2 |
SASS6 |
G |
A |
exonic |
nonsynonymous SNV |
SASS6:NM_001304829:exon7:c.C275T:p.A92V,SASS6:NM_194292:exon8:c.C776T:p.A259V |
RS13375867 |
Fasting blood glucose:Urinary
albumin-to-creatinine ratio:Serum concentration of phenylacetylglutamine:Gene
expression of HIAT1 in normal prepouch ileum:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
1 |
100672060 |
2 |
DBT |
T |
C |
exonic |
nonsynonymous SNV |
DBT:NM_001918:exon9:c.A1150G:p.S384G |
RS12021720 |
Arthritis including
non-Rheumatoid:High-grade glioma:Partial epilepsy:Total
cholesterol:Glioma:Serum ratio of (4-acetamidobutanoate)/(glycerate) |
|
1 |
104068839 |
1 |
RNPC3 |
C |
A |
exonic |
stopgain |
RNPC3:NM_017619:exon1:c.C147A:p.Y49X |
|
1 |
109338861 |
2 |
STXBP3 |
G |
C |
exonic |
synonymous SNV |
STXBP3:NM_007269:exon14:c.G1116C:p.L372L |
|
1 |
109486196 |
1 |
CLCC1 |
A |
G |
exonic |
synonymous SNV |
CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T |
RS338466 |
Longstanding arthritis:Premature
ovarian failure:Gene expression of GPSM2 in CD4+ lymphocytes:Urinary
albumin-to-creatinine ratio:Gene expression of KIAA1324 in blood:Bipolar
disorder:Major depressive disorder:Amyotrophic lateral sclerosis
(ALS):Maternal transmission distortion:Paclitaxel-induced cytotoxicity in
lymphoblastoid cell lines:Major depressive disorder and bipolar disorder
combined analysis:Transmission distortion:Gene expression of AKNAD1
(ENSG00000162641) in dendritic cells treated with Mycobacterium
tuberculosis:Paternal transmission distortion |
|
1 |
109794252 |
2 |
CELSR2 |
T |
C |
exonic |
synonymous SNV |
CELSR2:NM_001408:exon1:c.T1551C:p.S517S |
RS454107 |
LDL cholesterol:LDL
cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Coronary artery disease (CAD) |
|
1 |
109816176 |
2 |
CELSR2 |
A |
C |
exonic |
synonymous SNV |
CELSR2:NM_001408:exon33:c.A8628C:p.G2876G |
|
1 |
109838918 |
2 |
MYBPHL |
C |
T |
exonic |
nonsynonymous SNV |
MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N |
RS629001 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:LDL cholesterol:Lp-PLA2 activity:HDL
cholesterol:Triglycerides:LDL cholesterol:Total
cholesterol:Height:Parkinson's disease:LDL cholesterol:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration:Total cholesterol:Coronary artery disease (CAD) |
|
1 |
109839433 |
2 |
MYBPHL |
A |
G |
exonic |
synonymous SNV |
MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T |
|
1 |
109897103 |
1 |
SORT1 |
A |
G |
exonic |
synonymous SNV |
SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F |
RS11142 |
LDL cholesterol:HOMA-B:Cystatin C
in serum:Serum creatinine:Chronic kidney disease:Methylation levels at
chr1:109742583-109742633 [hg18 coord, probe cg02175308] in Cerebellum:Total
cholesterol:LDL cholesterol:Coronary artery disease (CAD):College completion |
|
1 |
110201699 |
2 |
GSTM4 |
T |
C |
exonic |
synonymous SNV |
GSTM4:NM_000850:exon7:c.T534C:p.F178F,GSTM4:NM_147148:exon7:c.T534C:p.F178F |
RS506008 |
Triglycerides:LDL cholesterol:Total
cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Mitral annular calcium |
|
1 |
110279701 |
1 |
GSTM3 |
C |
T |
exonic |
nonsynonymous SNV |
GSTM3:NM_000849:exon9:c.G670A:p.V224I |
RS7483 |
Irritible bowel syndrome:Gene
expression of GSTM3 in blood cells in Celiac disease:Differential exon level
expression of GSTM3 [probe 2427214] in brain cortex:Differential exon level
expression of GSTM5 [probe 2351027] in brain cortex:Differential exon level
expression of GSTM5 [probe 2351017] in brain cortex:Differential exon level
expression of GSTM5 [probe 2351025] in brain cortex:Differential exon level
expression of GSTM5 [probe 2351018] in brain cortex:Gene expression of GSTM5
[probe 2351004] in brain cortex:Differential exon level expression of GSTM5
[probe 2351023] in brain cortex:HDL cholesterol change with
statins:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe
cg04987894] in Frontal cortex:Methylation levels at chr1:110056089-110056139
[hg18 coord, probe cg04987894] in Temporal cortex:Methylation levels at
chr1:110056089-110056139 [hg18 coord, probe cg04987894] in Caudal
pons:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe
cg04987894] in Cerebellum:Gene expression of GSTM5 in Temporal cortex:LDL
cholesterol:Gene expression of GSTM3 in CD4+ lymphocytes:Gene expression of
AC000032.7///GSTM2 in blood:Gene expression of GSTM3 in blood:Gene expression
of GSTM1///AC000032.7///GSTM2 in blood:Serum ratio of (10-nonadecenoate
(19:1n9))/(5-dodecenoate (12:1n7)):Sporadic Creutzfeldt-Jakob disease:Gene
expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Alzheimer's
disease cases:Gene expression of GSTM5 (probeID ILMN_1750790) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of GSTM5
(probeID ILMN_1750790) in cerebellum in non-Alzheimer's disease samples:Gene
expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of GSTM5 (probeID ILMN_1750790) in
cerebellum in Alzheimer's disease cases:Gene expression of GSTM3 in normal
prepouch ileum:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of GSTM5 (probeID
ILMN_1750790) in temporal cortex in Progressive Supranuclear Palsy cases |
|
1 |
110295772 |
2 |
EPS8L3 |
T |
C |
exonic |
synonymous SNV |
EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S |
RS1887547 |
Gene expression of GSTM3 [probe
202554_s_at] in lymphoblastoid cell lines:Gene expression of GSTM5 [probe
GI_23065562] in prefrontal cortex:Gene expression of GSTM5 [probe
205752_s_at] in prefrontal cortex:Methylation levels at
chr1:110084696-110084746 [hg18 coord, probe cg25027501] in Temporal
cortex:Gene expression of GSTM3 in Cerebellum:Gene expression of GSTM4 in
peripheral blood monocytes:Gene expression of GSTM3 in peripheral blood
monocytes:LDL cholesterol:Total cholesterol:PROP taste detection threshold:Gene
expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of GSTM3 (probeID ILMN_1736184) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of GSTM3
in normal prepouch ileum:Gene expression change of GSTM1 (ENSG00000134184) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GSTM3 (probeID ILMN_1736184) in
temporal cortex in Alzheimer's disease cases and controls |
|
1 |
110299691 |
1 |
EPS8L3 |
G |
A |
exonic |
nonsynonymous SNV |
EPS8L3:NM_001319952:exon11:c.C967T:p.P323S,EPS8L3:NM_024526:exon12:c.C1066T:p.P356S,EPS8L3:NM_133181:exon12:c.C1066T:p.P356S,EPS8L3:NM_139053:exon12:c.C1069T:p.P357S |
RS11102001 |
Barnes Akathisia Rating
Scale:Fasting blood glucose:LDL cholesterol:Total cholesterol:Gene expression
of GSTM3 in blood:Gene expression of GSTM3 in normal prepouch
ileum:Salmonella-induced pyroptosis |
|
1 |
110882444 |
2 |
RBM15 |
A |
G |
exonic |
synonymous SNV |
RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E |
|
1 |
110883569 |
1 |
RBM15 |
A |
T |
exonic |
synonymous SNV |
RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P |
RS3738752 |
HOMA-B:Diabetic retinopathy in Type
2 diabetes mellitus |
|
1 |
111998734 |
1 |
ATP5F1 |
A |
G |
exonic |
nonsynonymous SNV |
ATP5F1:NM_001688:exon4:c.A250G:p.I84V |
|
1 |
112269872 |
2 |
FAM212B |
G |
A |
exonic |
synonymous SNV |
FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F |
|
1 |
112298829 |
1 |
DDX20 |
T |
C |
exonic |
synonymous SNV |
DDX20:NM_007204:exon1:c.T283C:p.L95L |
|
1 |
112308953 |
1 |
DDX20 |
T |
C |
exonic |
nonsynonymous SNV |
DDX20:NM_007204:exon11:c.T1907C:p.I636T |
RS197412 |
Cystatin C in serum:Lp-PLA2
mass:Lp-PLA2 activity:Height:College completion:Years of education:Obesity
with early age of onset (age >2) |
|
1 |
112308972 |
1 |
DDX20 |
G |
A |
exonic |
synonymous SNV |
DDX20:NM_007204:exon11:c.G1926A:p.V642V |
RS197413 |
Cystatin C in serum:Height:College
completion:Years of education:Obesity with early age of onset (age >2) |
|
1 |
113197203 |
1 |
CAPZA1 |
A |
G |
exonic |
synonymous SNV |
CAPZA1:NM_006135:exon5:c.A336G:p.E112E |
|
1 |
113456546 |
2 |
SLC16A1 |
A |
T |
exonic |
nonsynonymous SNV |
SLC16A1:NM_001166496:exon5:c.T1470A:p.D490E,SLC16A1:NM_003051:exon5:c.T1470A:p.D490E |
RS1049434 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol change with statins:Serum ratio of
(allantoin)/(hexadecanedioate):Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Coronary artery disease (CAD):Refractive error |
|
1 |
114442837 |
1 |
AP4B1 |
T |
C |
exonic |
nonsynonymous SNV |
AP4B1:NM_001308312:exon2:c.A299G:p.H100R,AP4B1:NM_001253852:exon5:c.A803G:p.H268R,AP4B1:NM_001253853:exon6:c.A506G:p.H169R,AP4B1:NM_006594:exon6:c.A803G:p.H268R |
|
1 |
114443899 |
1 |
AP4B1 |
G |
A |
exonic |
synonymous SNV |
AP4B1:NM_001253852:exon4:c.C576T:p.G192G,AP4B1:NM_001253853:exon5:c.C279T:p.G93G,AP4B1:NM_006594:exon5:c.C576T:p.G192G |
RS17464525 |
Gene expression of DCLRE1B in
CHB-JPT lymphoblastoid cell lines:Amyotrophic lateral sclerosis (ALS):Serum
creatinine:Gene expression of DCLRE1B in CD4+
lymphocytes:Microalbuminuria:Gene expression of HIPK1///DCLRE1B in blood:Gene
expression of HIPK1///AP4B1 in blood:Gene expression of AP4B1
(ENSG00000134262) in dendritic cells treated with Mycobacterium
tuberculosis:Salmonella-induced pyroptosis:Gene expression of DCLRE1B
(probeID ILMN_1655382) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of AP4B1 (ENSG00000134262) in dendritic cells:Gene
expression of DCLRE1B (probeID ILMN_1655382) in cerebellum in Alzheimer's
disease cases and controls |
|
1 |
114449662 |
1 |
DCLRE1B |
T |
C |
exonic |
synonymous SNV |
DCLRE1B:NM_022836:exon2:c.T234C:p.H78H |
RS3761936 |
Rheumatoid arthritis:Total
cholesterol change with statins:Triglycerides change with statins:LDL
cholesterol change with statins:Rheumatoid arthritis:Adiponectin levels:Gene
expression of DCLRE1B in normal prepouch ileum |
|
1 |
114505000 |
1 |
HIPK1 |
G |
A |
exonic |
synonymous SNV |
HIPK1:NM_181358:exon7:c.G861A:p.P287P,HIPK1:NM_198269:exon8:c.G921A:p.P307P,HIPK1:NM_152696:exon9:c.G2043A:p.P681P,HIPK1:NM_198268:exon9:c.G2043A:p.P681P |
RS17852555 |
PROP taste detection threshold |
|
1 |
114515717 |
1 |
HIPK1 |
G |
A |
exonic |
synonymous SNV |
HIPK1:NM_181358:exon14:c.G2034A:p.A678A,HIPK1:NM_198269:exon15:c.G2094A:p.A698A,HIPK1:NM_198268:exon16:c.G3216A:p.A1072A |
RS2358996 |
Serum creatinine:Total
cholesterol:LDL cholesterol:Gene expression of DCLRE1B (probeID ILMN_1655382)
in temporal cortex in Alzheimer's disease cases and controls:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Gene expression of
DCLRE1B (probeID ILMN_1655382) in cerebellum in Alzheimer's disease cases and
controls:Diabetic retinopathy in Type 2 diabetes mellitus:Years of education |
|
1 |
114948281 |
1 |
TRIM33 |
A |
G |
exonic |
nonsynonymous SNV |
TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T |
RS6537825 |
Barnes Akathisia Rating
Scale:Height:Waist hip ratio:Years of education |
|
1 |
115256529 |
1 |
NRAS |
T |
A |
exonic |
nonsynonymous SNV |
NRAS:NM_002524:exon3:c.A182T:p.Q61L |
|
1 |
116206423 |
1 |
VANGL1 |
G |
A |
exonic |
nonsynonymous SNV |
VANGL1:NM_001172411:exon4:c.G340A:p.A114T,VANGL1:NM_001172412:exon4:c.G346A:p.A116T,VANGL1:NM_138959:exon4:c.G346A:p.A116T |
RS4839469 |
Abnormal Involuntary Movement
Scale:Serum ratio of (3-indoxyl sulfate)/(trigonelline
(N'-methylnicotinate)):Serum concentration of 2-hydroxybutyrate
(AHB):Resistance to kuru in aged women despite likely exposure:Infant head
circumference:Salmonella-induced pyroptosis:Maternal transmission
distortion:Gene expression of VANGL1 in normal prepouch ileum:Amyotrophic
lateral sclerosis (ALS) age of onset:Transmission distortion |
|
1 |
117617705 |
1 |
TTF2 |
A |
G |
exonic |
nonsynonymous SNV |
TTF2:NM_003594:exon5:c.A499G:p.K167E |
RS998532 |
Alzheimer's disease:Gene expression
of IGSF2 in peripheral blood monocytes:Late onset Alzheimer's disease:Gene
expression of [probe 1710678 centered at chr1:117640004] in blood:Type 2
diabetes:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Hypertension (early onset hypertension):Mitral annular calcium:Years of
education |
|
1 |
117618067 |
1 |
TTF2 |
C |
T |
exonic |
synonymous SNV |
TTF2:NM_003594:exon5:c.C861T:p.N287N |
|
1 |
118587003 |
2 |
|
1 |
120285546 |
1 |
PHGDH |
G |
A |
exonic |
synonymous SNV |
PHGDH:NM_006623:exon11:c.G1326A:p.T442T |
RS543703 |
PC ae C30:1 / lysoPC a C26:1:PC ae
C30:1:Height:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG |
|
1 |
130415818 |
2 |
|
1 |
144618144 |
2 |
NBPF8;NBPF9 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
144881461 |
2 |
PDE4DIP |
A |
C |
exonic |
synonymous SNV |
PDE4DIP:NM_001350520:exon21:c.T4224G:p.A1408A,PDE4DIP:NM_001198834:exon25:c.T3735G:p.A1245A,PDE4DIP:NM_014644:exon25:c.T3735G:p.A1245A,PDE4DIP:NM_001198832:exon28:c.T3603G:p.A1201A,PDE4DIP:NM_001350521:exon28:c.T4146G:p.A1382A,PDE4DIP:NM_001350522:exon28:c.T3933G:p.A1311A,PDE4DIP:NM_001350523:exon28:c.T3603G:p.A1201A |
|
1 |
144912153 |
1 |
PDE4DIP |
A |
G |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R |
RS1628172 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
145103928 |
2 |
SEC22B |
G |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
145103947 |
2 |
SEC22B |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
145109549 |
2 |
SEC22B |
G |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
145109583 |
2 |
SEC22B |
C |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
145112414 |
2 |
SEC22B |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
145112428 |
2 |
SEC22B |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
145112485 |
2 |
SEC22B |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
145115810 |
2 |
SEC22B |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
146672906 |
2 |
FMO5 |
C |
T |
exonic |
synonymous SNV |
FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P |
RS894469 |
Differential exon level expression
of CHD1L [probe 2356761] in peripheral blood mononuclear cells:Alzheimer's
disease:Total cholesterol change with statins:Triglycerides:Height:Bipolar
disorder:Hypertension (early onset hypertension) |
|
1 |
146714392 |
1 |
CHD1L |
G |
T |
exonic |
synonymous SNV |
CHD1L:NM_001256338:exon1:c.G39T:p.A13A,CHD1L:NM_001348454:exon1:c.G39T:p.A13A,CHD1L:NM_004284:exon1:c.G39T:p.A13A |
|
1 |
146714427 |
1 |
CHD1L |
G |
C |
exonic |
nonsynonymous SNV |
CHD1L:NM_001256338:exon1:c.G74C:p.R25P,CHD1L:NM_001348454:exon1:c.G74C:p.R25P,CHD1L:NM_004284:exon1:c.G74C:p.R25P |
|
1 |
146751782 |
2 |
CHD1L |
A |
C |
exonic |
synonymous SNV |
CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I |
RS7547279 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
1 |
146759320 |
1 |
CHD1L |
C |
G |
exonic |
nonsynonymous SNV |
CHD1L:NM_001256338:exon13:c.C1616G:p.S539C,CHD1L:NM_001256337:exon14:c.C1385G:p.S462C,CHD1L:NM_001348454:exon14:c.C1772G:p.S591C,CHD1L:NM_001348456:exon14:c.C1385G:p.S462C,CHD1L:NM_001348463:exon15:c.C1385G:p.S462C,CHD1L:NM_001348466:exon15:c.C1385G:p.S462C,CHD1L:NM_001348459:exon17:c.C1385G:p.S462C,CHD1L:NM_001348461:exon17:c.C1385G:p.S462C,CHD1L:NM_001348464:exon17:c.C1385G:p.S462C,CHD1L:NM_001256336:exon18:c.C1928G:p.S643C,CHD1L:NM_001348453:exon18:c.C1889G:p.S630C,CHD1L:NM_001348455:exon18:c.C1739G:p.S580C,CHD1L:NM_001348457:exon18:c.C1385G:p.S462C,CHD1L:NM_001348458:exon18:c.C1385G:p.S462C,CHD1L:NM_001348460:exon18:c.C1385G:p.S462C,CHD1L:NM_001348465:exon18:c.C1385G:p.S462C,CHD1L:NM_001348452:exon19:c.C2012G:p.S671C,CHD1L:NM_001348462:exon19:c.C1385G:p.S462C,CHD1L:NM_004284:exon19:c.C2228G:p.S743C,CHD1L:NM_024568:exon19:c.C1889G:p.S630C,CHD1L:NM_001348451:exon20:c.C2012G:p.S671C |
RS2275249 |
HDL cholesterol:Total
cholesterol:Gene expression of SRI in peripheral blood monocytes:Height:Serum
ratio of (gamma-glutamylglutamate)/(malate) |
|
1 |
146767149 |
2 |
CHD1L |
G |
T |
exonic |
nonsynonymous SNV |
CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S |
RS4950394 |
Height:Advanced age-related macular
degeneration (geographic atrophy) |
|
1 |
147091972 |
1 |
BCL9 |
C |
T |
exonic |
nonsynonymous SNV |
BCL9:NM_004326:exon8:c.C2011T:p.P671S |
RS3820129 |
Gene expression of ACP6 [probe
218795_at] in lymphoblastoid cell lines:Gene expression of ACP6 in brain
cortex:Eye color:Gene expression of ACP6 in Caudal pons:Gene expression of
FGF23 in peripheral blood monocytes:Gene expression of ACP6 in CD4+ lymphocytes:Gene
expression of ACP6 in blood:Serum concentration of hexanoylcarnitine:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection
threshold:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Gene
expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ACP6 in normal prepouch
ileum:Salmonella-induced pyroptosis:Infant head circumference:Gene expression
of ACP6 (probeID ILMN_2234343) in cerebellum in Alzheimer's disease cases and
controls |
|
1 |
147119273 |
1 |
ACP6 |
G |
A |
exonic |
synonymous SNV |
ACP6:NM_016361:exon10:c.C1239T:p.H413H |
RS1344 |
Gene expression of ACP6 [probe
218795_at] in lymphoblastoid cell lines:Gene expression of probe 242270_at in
lymphoblastoid cell lines:Gene expression of ACP6 in brain cortex:Gene
expression of ACP6 in liver:Eye color:Gene expression of ACP6 in blood cells
in Celiac disease:Biploar disorder (bipolar schizoaffective disorder):Gene
expression of ACP6 [probe ILMN_24835] in osteoblasts:Gene expression of ACP6
in Caudal pons:Gene expression of ACP6 in peripheral blood monocytes:Gene
expression of ACP6 in CD4+ lymphocytes:Height:Waist hip ratio:Gene expression
of ACP6 [probe ILMN_24835] in untreated osteoblasts:Gene expression of ACP6
[probe ILMN_24835] in osteoblasts treated with PGE2:Gene expression of ACP6
[probe ILMN_24835] in osteoblasts treated with BMP2:Gene expression of ACP6
[probe ILMN_24835] in osteoblasts treated with dexamethasone:Gene expression
of ACP6 in blood:Gene expression of ACP6 (probeID ILMN_2234343) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of ACP6 in
normal prepouch ileum:Gene expression of ACP6 (probeID ILMN_2234343) in
cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium |
|
1 |
147121977 |
2 |
ACP6 |
C |
T |
exonic |
nonsynonymous SNV |
ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M |
RS6593795 |
Salmonella-induced pyroptosis |
|
1 |
147124310 |
2 |
ACP6 |
T |
G |
exonic |
synonymous SNV |
ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R |
RS2153463 |
Gene expression of probe 242270_at
in lymphoblastoid cell lines:Gene expression of ACP6 [probe 218795_at] in
lymphoblastoid cell lines:Gene expression of ACP6 in Caudal pons:Gene
expression of ACP6 in Temporal cortex:Gene expression of ACP6 in liver:Gene
expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ACP6 (probeID ILMN_2234343) in
cerebellum in Alzheimer's disease cases and controls:Infant head
circumference:Gene expression of ACP6 in normal prepouch
ileum:Salmonella-induced pyroptosis:Aortic valve calcium |
|
1 |
149290801 |
2 |
FAM231D;LOC100996741;LOC388692 |
C |
G |
exonic |
nonsynonymous SNV |
LOC388692:NM_001013644:exon1:c.C273G:p.D91E,FAM231D:NM_001348147:exon1:c.C273G:p.D91E,LOC100996741:NM_001348152:exon1:c.C273G:p.D91E |
|
1 |
150526044 |
1 |
ADAMTSL4 |
G |
C |
exonic |
nonsynonymous SNV |
ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P |
|
1 |
150531008 |
2 |
ADAMTSL4 |
T |
C |
exonic |
synonymous SNV |
ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N |
RS10888382 |
HDL cholesterol:Total
cholesterol:Serum creatinine:Chronic kidney disease:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Aortic valve calcium:Obesity with early
age of onset (age >2) |
|
1 |
150531050 |
2 |
ADAMTSL4 |
G |
A |
exonic |
synonymous SNV |
ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P |
|
1 |
150727539 |
1 |
CTSS |
G |
A |
exonic |
nonsynonymous SNV |
CTSS:NM_004079:exon4:c.C337T:p.R113W |
RS2230061 |
Serum creatinine:Neuroblastoma
(brain cancer):Gene expression of ARNT in liver:Gene expression of HORMAD1
(ENSG00000143452) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of CTSS in normal prepouch ileum:Transmission
distortion:Gene expression of HORMAD1 in normal prepouch ileum:Maternal
transmission distortion |
|
1 |
150771703 |
2 |
CTSK |
T |
C |
exonic |
synonymous SNV |
CTSK:NM_000396:exon7:c.A831G:p.A277A |
RS10788796 |
Triglycerides:Parkinson's disease |
|
1 |
150808889 |
1 |
ARNT |
C |
G |
exonic |
synonymous SNV |
ARNT:NM_001197325:exon6:c.G522C:p.V174V,ARNT:NM_178427:exon6:c.G522C:p.V174V,ARNT:NM_001286036:exon7:c.G567C:p.V189V,ARNT:NM_001350225:exon7:c.G564C:p.V188V,ARNT:NM_001350226:exon7:c.G561C:p.V187V,ARNT:NM_001668:exon7:c.G567C:p.V189V,ARNT:NM_001286035:exon8:c.G540C:p.V180V,ARNT:NM_001350224:exon8:c.G540C:p.V180V |
RS2228099 |
Gene expression of CTSS in
CEU-CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Serum
creatinine:Body mass index (BMI):Gene expression of HORMAD1 in normal
prepouch ileum:Obesity with early age of onset (age >2) |
|
1 |
150970577 |
2 |
MINDY1 |
G |
T |
exonic |
nonsynonymous SNV |
MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K |
RS2925741 |
Cystatin C in serum |
|
1 |
150975108 |
2 |
MINDY1 |
T |
C |
exonic |
nonsynonymous SNV |
MINDY1:NM_001163258:exon3:c.A130G:p.K44E |
|
1 |
150999737 |
1 |
PRUNE1 |
A |
G |
exonic |
synonymous SNV |
PRUNE1:NM_001303243:exon4:c.A105G:p.K35K,PRUNE1:NM_001303229:exon5:c.A162G:p.K54K,PRUNE1:NM_001303242:exon6:c.A708G:p.K236K,PRUNE1:NM_021222:exon6:c.A708G:p.K236K |
RS11204762 |
2 hour glucose:Serum concentration
of hippurate:Birth weight:Gene expression of LASS2 (ENSG00000143418) in
dendritic cells |
|
1 |
151006539 |
1 |
PRUNE1 |
C |
A |
exonic |
synonymous SNV |
PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G |
RS3738476 |
HDL cholesterol:Autism with low
IQ:Height:Waist hip ratio:Years of education:College completion |
|
1 |
151239051 |
1 |
PSMD4 |
T |
C |
exonic |
synonymous SNV |
PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S |
RS7489 |
Rheumatoid arthritis:Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of ZNF687
(ENSG00000143373) in dendritic cells |
|
1 |
151288172 |
2 |
PI4KB |
G |
A |
exonic |
synonymous SNV |
PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D,PI4KB:NM_001330721:exon4:c.C786T:p.D262D |
RS1056847 |
Irritible bowel
syndrome:Height:Mitral annular calcium:Diabetic retinopathy in Type 2
diabetes mellitus |
|
1 |
151288391 |
2 |
PI4KB |
A |
G |
exonic |
synonymous SNV |
PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D |
|
1 |
151372091 |
1 |
PSMB4 |
G |
A |
exonic |
nonsynonymous SNV |
PSMB4:NM_002796:exon1:c.G28A:p.G10R |
|
1 |
151372138 |
1 |
PSMB4 |
G |
A |
exonic |
synonymous SNV |
PSMB4:NM_002796:exon1:c.G75A:p.P25P |
RS7172 |
Biploar disorder (bipolar
schizoaffective disorder):Total cholesterol:LDL cholesterol:Triglycerides
change with statins:Myocardial infarction (MI):Serum ratio of
(phenylacetate)/(pyroglutamylglycine):Bipolar disorder:Transmission
distortion |
|
1 |
151377407 |
1 |
POGZ |
A |
C |
exonic |
synonymous SNV |
POGZ:NM_145796:exon17:c.T3819G:p.T1273T,POGZ:NM_207171:exon17:c.T3945G:p.T1315T,POGZ:NM_001194938:exon18:c.T3918G:p.T1306T,POGZ:NM_001194937:exon19:c.T4077G:p.T1359T,POGZ:NM_015100:exon19:c.T4104G:p.T1368T |
RS1571294 |
Cystatin C in serum |
|
1 |
151740666 |
2 |
OAZ3 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
151867560 |
2 |
THEM4 |
G |
A |
exonic |
synonymous SNV |
THEM4:NM_053055:exon2:c.C210T:p.D70D |
|
1 |
151881885 |
2 |
THEM4 |
A |
C |
exonic |
nonsynonymous SNV |
THEM4:NM_053055:exon1:c.T50G:p.L17R |
|
1 |
153598904 |
1 |
S100A13 |
G |
C |
exonic |
synonymous SNV |
S100A13:NM_001024211:exon2:c.C45G:p.T15T,S100A13:NM_001024212:exon2:c.C45G:p.T15T,S100A13:NM_001024213:exon2:c.C45G:p.T15T,S100A13:NM_005979:exon3:c.C45G:p.T15T,S100A13:NM_001024210:exon4:c.C45G:p.T15T |
|
1 |
153909069 |
1 |
DENND4B |
G |
C |
exonic |
synonymous SNV |
DENND4B:NM_014856:exon16:c.C2388G:p.A796A |
|
1 |
153941514 |
1 |
CREB3L4 |
C |
T |
exonic |
nonsynonymous SNV |
CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S |
RS11264743 |
Triglycerides:Fasting blood
glucose:Triglycerides:HDL cholesterol:Neuroblastoma (brain cancer):Urinary
albumin-to-creatinine ratio:Gene expression of CRTC2 [transcript NM_181715,
probe A_23_P12178] in liver:Gene expression of CRTC2///SLC39A1 in blood:Gene
expression of NUP210L in blood:Gene expression of TPM3 in blood:Gene
expression of GATAD2B in blood:Serum concentration of urate:College
completion:Hypertension (early onset hypertension):Amyotrophic lateral
sclerosis (ALS):Primary rhegmatogenous retinal detachment:Years of
education:Gene expression of SLC39A1 (probe ID ILMN_2116714) in whole blood
in amyotrophic lateral sclerosis cases and controls |
|
1 |
154317153 |
1 |
ATP8B2 |
C |
T |
exonic |
synonymous SNV |
ATP8B2:NM_020452:exon21:c.C2277T:p.S759S |
RS1194587 |
2 hour glucose:Urinary
albumin-to-creatinine ratio |
|
1 |
154561925 |
1 |
ADAR |
C |
T |
exonic |
synonymous SNV |
ADAR:NM_001025107:exon9:c.G1797A:p.V599V,ADAR:NM_001111:exon9:c.G2682A:p.V894V,ADAR:NM_001193495:exon9:c.G1797A:p.V599V,ADAR:NM_015840:exon9:c.G2604A:p.V868V,ADAR:NM_015841:exon9:c.G2547A:p.V849V |
RS1127309 |
Triglycerides:Gene expression of
ADAR in normal prepouch ileum |
|
1 |
154573967 |
1 |
ADAR |
T |
C |
exonic |
nonsynonymous SNV |
ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R |
RS2229857 |
Differential exon level expression
of ADAR [probe 2436757] in brain cortex:Response to interferon beta therapy
in multiple sclerosis patients:Response to interferon beta therapy in
multiple sclerosis (responders vs nonresponders):Gene expression of ADAR in
blood:Serum ratio of (inositol 1-phosphate (I1P))/(pantothenate):Serum ratio
of (biliverdin)/(mannitol):Years of education:Gene expression of ADAR in
normal prepouch ileum |
|
1 |
154574820 |
2 |
ADAR |
T |
C |
exonic |
nonsynonymous SNV |
ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G |
|
1 |
154575040 |
2 |
ADAR |
C |
T |
exonic |
synonymous SNV |
ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R |
|
1 |
154918890 |
1 |
PBXIP1 |
G |
A |
exonic |
synonymous SNV |
PBXIP1:NM_001317735:exon7:c.C795T:p.S265S,PBXIP1:NM_001317734:exon9:c.C1173T:p.S391S,PBXIP1:NM_020524:exon10:c.C1260T:p.S420S |
|
1 |
154919080 |
1 |
PBXIP1 |
C |
T |
exonic |
nonsynonymous SNV |
PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D |
RS2061690 |
Serum creatinine:Body mass index
(BMI):Gene expression of DPM3 in liver:Gene expression of PBXIP1 [probeset
207838_x_at] in sputum |
|
1 |
154987526 |
2 |
ZBTB7B |
C |
T |
exonic |
synonymous SNV |
ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I |
RS11264295 |
Methylation levels at
chr1:153273828-153273878 [hg18 coord, probe cg21596858] in Temporal
cortex:Comorbid depressive syndrome and alcohol dependence |
|
1 |
154988957 |
2 |
ZBTB7B |
A |
G |
exonic |
synonymous SNV |
ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P |
|
1 |
155026942 |
2 |
ADAM15 |
A |
C |
exonic |
nonsynonymous SNV |
ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T |
RS6427128 |
Irritible bowel syndrome:Arthritis
including non-Rheumatoid:Schizophrenia:Differential exon level expression of
ADAM15 [probe 2360588] in peripheral blood mononuclear cells:Differential
exon level expression of ADAM15 [probe 2360588] in brain cortex:Alzheimer's
disease:Serum creatinine:Triglycerides:HDL cholesterol:Gene expression of
ADAM15 in blood:Serum ratio of
(gamma-glutamylmethionine*)/(succinylcarnitine):Comorbid depressive syndrome
and alcohol dependence:Gene expression of CKS1B (ENSG00000173207) in
dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related
macular degeneration:Gene expression change of PBXIP1 (ENSG00000163346) in
dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of
fallot:Gene expression of PBXIP1 (ENSG00000163346) in dendritic cells:Gene
expression of EFNA1 (ENSG00000169242) in dendritic cells treated with
Mycobacterium tuberculosis:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
1 |
155294274 |
2 |
RUSC1 |
A |
G |
exonic |
synonymous SNV |
RUSC1:NM_001105205:exon1:c.A66G:p.L22L |
|
1 |
155408635 |
2 |
ASH1L |
T |
C |
exonic |
nonsynonymous SNV |
ASH1L:NM_018489:exon5:c.A5311G:p.T1771A |
|
1 |
155880573 |
2 |
RIT1 |
C |
G |
exonic |
nonsynonymous SNV |
RIT1:NM_001256821:exon2:c.G31C:p.E11Q |
RS493446 |
LDL cholesterol change with
statins:Total cholesterol change with statins:LDL cholesterol:Advanced
age-related macular degeneration:Birth weight |
|
1 |
155912486 |
2 |
RXFP4 |
T |
C |
exonic |
nonsynonymous SNV |
RXFP4:NM_181885:exon1:c.T986C:p.L329S |
RS2152051 |
Abnormal Involuntary Movement Scale |
|
1 |
156011444 |
2 |
UBQLN4 |
T |
C |
exonic |
nonsynonymous SNV |
UBQLN4:NM_001304342:exon10:c.A1425G:p.I475M,UBQLN4:NM_020131:exon10:c.A1485G:p.I495M |
RS2297792 |
Gene expression of RIT1 [probe
239843_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential
exon level expression of UBQLN4 [probe 2437900] in brain cortex:Differential
exon level expression of UBQLN4 [probe 2437900] in peripheral blood mononuclear
cells:Gene expression of UBQLN4 [probe 2437893] in brain cortex:Total
cholesterol change with statins:Body mass index (BMI):Age at death with kuru
exposure:Advanced age-related macular degeneration:Gene expression of UBQLN4
(ENSG00000160803) in dendritic cells:Birth weight |
|
1 |
156107534 |
1 |
LMNA |
C |
T |
exonic |
synonymous SNV |
LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H |
RS4641 |
LDL cholesterol:Total
cholesterol:Gene expression of PMF1 (ENSG00000160783) in dendritic cells
treated with Mycobacterium tuberculosis |
|
1 |
156263940 |
1 |
GLMP |
T |
C |
exonic |
nonsynonymous SNV |
GLMP:NM_001256605:exon3:c.A409G:p.I137V,GLMP:NM_001256604:exon4:c.A667G:p.I223V,GLMP:NM_001256608:exon4:c.A667G:p.I223V,GLMP:NM_001256609:exon4:c.A424G:p.I142V,GLMP:NM_144580:exon4:c.A667G:p.I223V |
RS10908495 |
Gene expression of NP_653181.1 in
blood cells in Celiac disease:Gene expression of C1orf85 [probe 2438093] in
peripheral blood mononuclear cells:HOMA-IR:Fasting insulin:Cystatin C in
serum:Gene expression of C1orf85 in CD4+ lymphocytes:Gene expression of CCT3
in blood:Gene expression of PMF1///PAQR6 in blood:Gene expression of
C1orf85///TMEM79 in blood:Gene expression of SEMA4A in blood:Gene expression
of SMG5 in blood |
|
1 |
156264000 |
1 |
GLMP |
G |
A |
exonic |
nonsynonymous SNV |
GLMP:NM_001256605:exon3:c.C349T:p.P117S,GLMP:NM_001256604:exon4:c.C607T:p.P203S,GLMP:NM_001256608:exon4:c.C607T:p.P203S,GLMP:NM_001256609:exon4:c.C364T:p.P122S,GLMP:NM_144580:exon4:c.C607T:p.P203S |
RS10908496 |
Gene expression of NP_653181.1 in
blood cells in Celiac disease:Gene expression of C1orf85 [probe 2438093] in
peripheral blood mononuclear cells:HOMA-IR:Fasting insulin:Cystatin C in
serum:Gene expression of C1orf85 in CD4+ lymphocytes:Gene expression of CCT3
in blood:Gene expression of C1orf85///TMEM79 in blood:Gene expression of
PMF1///PAQR6 in blood:Gene expression of SEMA4A in blood:Gene expression of
SMG5 in blood |
|
1 |
156351699 |
1 |
RHBG |
G |
A |
exonic |
nonsynonymous SNV |
RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R |
RS3748569 |
Fasting blood glucose:Triglycerides
change with statins:Allergic rhinitis:Atopy:Gene expression of
C1orf85///TMEM79 in blood:Gene expression of PMF1///PAQR6 in blood:Serum
ratio of (hexanoylcarnitine)/(succinylcarnitine):Years of education |
|
1 |
156446903 |
1 |
MEF2D |
T |
C |
exonic |
synonymous SNV |
MEF2D:NM_001271629:exon7:c.A756G:p.P252P,MEF2D:NM_005920:exon7:c.A756G:p.P252P |
RS2274317 |
HOMA-B:Fasting
insulin:Triglycerides change with statins:Height:Body mass index
(BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Advanced age-related macular
degeneration |
|
1 |
156499969 |
2 |
IQGAP3 |
T |
C |
exonic |
synonymous SNV |
IQGAP3:NM_178229:exon34:c.A4332G:p.L1444L |
|
1 |
156526444 |
2 |
IQGAP3 |
T |
C |
exonic |
nonsynonymous SNV |
IQGAP3:NM_178229:exon12:c.A1171G:p.R391G |
|
1 |
156532977 |
2 |
IQGAP3 |
T |
C |
exonic |
synonymous SNV |
IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q |
|
1 |
156536221 |
2 |
IQGAP3 |
G |
C |
exonic |
synonymous SNV |
IQGAP3:NM_178229:exon3:c.C243G:p.P81P |
|
1 |
156536251 |
2 |
IQGAP3 |
T |
C |
exonic |
synonymous SNV |
IQGAP3:NM_178229:exon3:c.A213G:p.L71L |
|
1 |
156556321 |
2 |
TTC24 |
G |
A |
exonic |
synonymous SNV |
TTC24:NM_001105669:exon10:c.G1728A:p.S576S |
RS10796961 |
Serum creatinine:LDL
cholesterol:Monocyte count:Gene expression of GPATCH4 (probeID ILMN_2383305)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of GPATCH4 (probeID ILMN_2383305) in cerebellum in Alzheimer's disease cases
and controls |
|
1 |
156561651 |
2 |
NAXE |
G |
C |
exonic |
nonsynonymous SNV |
NAXE:NM_144772:exon1:c.G55C:p.V19L |
|
1 |
156563726 |
2 |
NAXE |
A |
C |
exonic |
synonymous SNV |
NAXE:NM_144772:exon6:c.A717C:p.I239I |
|
1 |
156563813 |
2 |
NAXE |
G |
A |
exonic |
synonymous SNV |
NAXE:NM_144772:exon6:c.G804A:p.E268E |
RS6668178 |
Serum creatinine:Gene expression of
APOA1BP in peripheral blood monocytes:Body mass index (BMI):Gene expression
of APOA1BP in normal prepouch ileum:Gene expression of GPATCH4 (probeID
ILMN_2383305) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of GPATCH4 (probeID ILMN_2383305) in cerebellum in Alzheimer's
disease cases and controls |
|
1 |
156563852 |
2 |
NAXE |
C |
T |
exonic |
synonymous SNV |
NAXE:NM_144772:exon6:c.C843T:p.T281T |
|
1 |
156705593 |
2 |
RRNAD1 |
G |
C |
exonic |
nonsynonymous SNV |
RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L |
|
1 |
156713512 |
2 |
HDGF |
C |
T |
exonic |
synonymous SNV |
HDGF:NM_001126050:exon5:c.G696A:p.E232E,HDGF:NM_001126051:exon5:c.G627A:p.E209E,HDGF:NM_001319186:exon5:c.G717A:p.E239E,HDGF:NM_001319187:exon5:c.G552A:p.E184E,HDGF:NM_004494:exon5:c.G648A:p.E216E,HDGF:NM_001319188:exon6:c.G552A:p.E184E |
|
1 |
156737969 |
1 |
PRCC |
C |
T |
exonic |
nonsynonymous SNV |
PRCC:NM_005973:exon1:c.C406T:p.P136S |
RS11264542 |
Waist hip ratio:Gene expression of
ISG20L2 in blood:Gene expression of MRPL24 in blood:Gene expression of
C1orf66 in blood:Serum concentration of eicosapentaenoate (EPA; 20:5n3):Years
of education |
|
1 |
156907081 |
2 |
ARHGEF11 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF11:NM_014784:exon38:c.A4280G:p.H1427R,ARHGEF11:NM_198236:exon39:c.A4400G:p.H1467R |
RS945508 |
Differential exon level expression
of ARHGEF11 [probe 2438661] in brain cortex:Methylation levels at
chr1:155283095-155283145 [hg18 coord, probe cg14265075] in Caudal
pons:Methylation levels at chr1:155283095-155283145 [hg18 coord, probe
cg14265075] in Frontal cortex:Height:Tetrology of fallot:Salmonella-induced
pyroptosis |
|
1 |
156907115 |
2 |
ARHGEF11 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF11:NM_014784:exon38:c.A4246G:p.S1416G,ARHGEF11:NM_198236:exon39:c.A4366G:p.S1456G |
|
1 |
160303416 |
2 |
COPA |
G |
A |
exonic |
synonymous SNV |
COPA:NM_001098398:exon5:c.C363T:p.N121N,COPA:NM_004371:exon5:c.C363T:p.N121N |
RS1802778 |
LDL cholesterol change with
statins:Height:Neuroblastoma (brain cancer):Gene expression of PEX19 in
blood:Gene expression of COPA in blood:Gene expression of NCSTN in blood:Gene
expression of PEA15///WDR42A in blood:Systolic blood pressure (SBP):Gene expression
of NCSTN [probeset 208759_at] in sputum:Gene expression of COPA [probeset
208684_at] in sputum:Variant Creutzfeldt-Jakob disease |
|
1 |
160318835 |
1 |
NCSTN |
G |
A |
exonic |
synonymous SNV |
NCSTN:NM_001290186:exon3:c.G237A:p.E79E,NCSTN:NM_001349729:exon3:c.G237A:p.E79E,NCSTN:NM_015331:exon3:c.G237A:p.E79E,NCSTN:NM_001290184:exon4:c.G177A:p.E59E |
|
1 |
161168004 |
2 |
ADAMTS4 |
C |
T |
exonic |
synonymous SNV |
ADAMTS4:NM_001320336:exon1:c.G414A:p.S138S,ADAMTS4:NM_005099:exon1:c.G414A:p.S138S |
|
1 |
161721707 |
1 |
DUSP12 |
C |
T |
exonic |
synonymous SNV |
DUSP12:NM_007240:exon3:c.C510T:p.Y170Y |
RS1063178 |
Triglycerides change with
statins:Total cholesterol:Neuroblastoma (brain cancer):Hypertension (early
onset hypertension) |
|
1 |
161751741 |
1 |
ATF6 |
A |
G |
exonic |
nonsynonymous SNV |
ATF6:NM_007348:exon3:c.A199G:p.M67V |
RS1058405 |
Gene expression change of FCRLA
(ENSG00000132185) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
1 |
161928327 |
2 |
ATF6 |
A |
G |
exonic |
synonymous SNV |
ATF6:NM_007348:exon16:c.A1896G:p.S632S |
RS9482 |
Gene expression of ATF6 [probe
217550_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):HDL
cholesterol:Total cholesterol:Neuroblastoma (brain cancer):Gene expression of
ATF6 in blood:Comorbid depressive syndrome and alcohol dependence |
|
1 |
165652273 |
2 |
ALDH9A1 |
A |
G |
exonic |
synonymous SNV |
ALDH9A1:NM_000696:exon3:c.T402C:p.I134I |
RS1143659 |
HOMA-B:Lp-PLA2 mass:Lp-PLA2
activity:Serum ratio of (4-hydroxyphenylacetate)/(inosine) |
|
1 |
167906239 |
2 |
DCAF6 |
A |
C |
exonic |
synonymous SNV |
DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_001349773:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R |
|
1 |
168013850 |
1 |
DCAF6 |
T |
C |
exonic |
nonsynonymous SNV |
DCAF6:NM_001349780:exon12:c.T1199C:p.V400A,DCAF6:NM_001017977:exon13:c.T1640C:p.V547A,DCAF6:NM_001349777:exon13:c.T1259C:p.V420A,DCAF6:NM_001349778:exon13:c.T1199C:p.V400A,DCAF6:NM_001349779:exon13:c.T1199C:p.V400A,DCAF6:NM_001198957:exon14:c.T1778C:p.V593A,DCAF6:NM_001349774:exon14:c.T1259C:p.V420A,DCAF6:NM_001349775:exon14:c.T1259C:p.V420A,DCAF6:NM_001349776:exon14:c.T1259C:p.V420A,DCAF6:NM_018442:exon14:c.T1700C:p.V567A,DCAF6:NM_001198956:exon15:c.T1871C:p.V624A,DCAF6:NM_001349773:exon15:c.T1871C:p.V624A |
RS11558511 |
Rheumatoid arthritis:Gene
expression of POU2AF1 in peripheral blood monocytes:Gene expression of LYZL1
in peripheral blood monocytes:College completion:Advanced age-related macular
degeneration (geographic atrophy) |
|
1 |
168014204 |
1 |
DCAF6 |
T |
A |
exonic |
nonsynonymous SNV |
DCAF6:NM_001349780:exon13:c.T1325A:p.L442H,DCAF6:NM_001017977:exon14:c.T1766A:p.L589H,DCAF6:NM_001349777:exon14:c.T1385A:p.L462H,DCAF6:NM_001349778:exon14:c.T1325A:p.L442H,DCAF6:NM_001349779:exon14:c.T1325A:p.L442H,DCAF6:NM_001198957:exon15:c.T1904A:p.L635H,DCAF6:NM_001349774:exon15:c.T1385A:p.L462H,DCAF6:NM_001349775:exon15:c.T1385A:p.L462H,DCAF6:NM_001349776:exon15:c.T1385A:p.L462H,DCAF6:NM_018442:exon15:c.T1826A:p.L609H,DCAF6:NM_001198956:exon16:c.T1997A:p.L666H,DCAF6:NM_001349773:exon16:c.T1997A:p.L666H |
|
1 |
169498975 |
1 |
F5 |
T |
C |
exonic |
nonsynonymous SNV |
F5:NM_000130:exon16:c.A5290G:p.M1764V |
RS6030 |
Total cholesterol:Waist hip
ratio:Gene expression of F5 in blood:Age at death with kuru exposure:Uric
acid in plasma:Gene expression of SLC19A2 in normal prepouch ileum |
|
1 |
169510233 |
1 |
F5 |
G |
A |
exonic |
synonymous SNV |
F5:NM_000130:exon13:c.C4095T:p.T1365T |
|
1 |
169511555 |
1 |
F5 |
T |
C |
exonic |
nonsynonymous SNV |
F5:NM_000130:exon13:c.A2773G:p.K925E |
RS6032 |
Waist hip ratio:Systolic blood
pressure (SBP) |
|
1 |
169511734 |
1 |
F5 |
T |
C |
exonic |
nonsynonymous SNV |
F5:NM_000130:exon13:c.A2594G:p.H865R |
RS4525 |
Gene expression of BLZF1 in blood
cells in Celiac disease:Schizophrenia:Venous thromboembolism (VTE):Waist hip
ratio:Gene expression of F5 in blood:Age at death with kuru exposure:Uric
acid in plasma |
|
1 |
169511755 |
1 |
F5 |
T |
C |
exonic |
nonsynonymous SNV |
F5:NM_000130:exon13:c.A2573G:p.K858R |
RS4524 |
Gene expression of BLZF1 in blood
cells in Celiac disease:Schizophrenia:Venous thromboembolism (VTE):Waist hip
ratio:Gene expression of F5 in blood:Serum ratio of
(biliverdin)/(taurodeoxycholate):Age at death with kuru exposure:Uric acid in
plasma |
|
1 |
169512027 |
1 |
F5 |
T |
C |
exonic |
synonymous SNV |
F5:NM_000130:exon13:c.A2301G:p.S767S |
|
1 |
169512093 |
1 |
F5 |
A |
G |
exonic |
synonymous SNV |
F5:NM_000130:exon13:c.T2235C:p.N745N |
|
1 |
169512120 |
1 |
F5 |
G |
A |
exonic |
synonymous SNV |
F5:NM_000130:exon13:c.C2208T:p.I736I |
|
1 |
169519049 |
2 |
F5 |
T |
C |
exonic |
nonsynonymous SNV |
F5:NM_000130:exon10:c.A1601G:p.Q534R |
RS6025 |
Barnes Akathisia Rating
Scale:Plasma fibrin D-dimer levels:Venous thrombosis:Venous
thromboembolism:Activated protein C resistance:Venous thrombosis |
|
1 |
169529826 |
1 |
F5 |
C |
A |
exonic |
synonymous SNV |
F5:NM_000130:exon4:c.G552T:p.S184S |
RS6022 |
HOMA-IR:Fasting blood
glucose:Fasting insulin:Serum ratio of
(1-linoleoylglycerophosphoethanolamine*)/(hypoxanthine) |
|
1 |
169529973 |
1 |
F5 |
C |
T |
exonic |
synonymous SNV |
F5:NM_000130:exon4:c.G405A:p.A135A |
RS6029 |
Irritible bowel
syndrome:HOMA-IR:Fasting blood glucose:Fasting insulin |
|
1 |
169823660 |
1 |
SCYL3 |
C |
T |
exonic |
synonymous SNV |
SCYL3:NM_020423:exon12:c.G1758A:p.V586V,SCYL3:NM_181093:exon13:c.G1920A:p.V640V |
RS1062976 |
Differential exon level expression
of C1orf112 [probe 2366603] in brain cortex:Sporadic amyotrophic lateral
sclerosis (ALS) survival:Abnormal Involuntary Movement Scale:Gene expression
of SELL in peripheral blood monocytes:Autism:Gene expression of SELL in
blood:Serum ratio of (10-heptadecenoate (17:1n7))/(oleate (18:1n9)):Years of
education:Tetrology of fallot:Transmission distortion:Paternal transmission
distortion |
|
1 |
169823718 |
1 |
SCYL3 |
T |
C |
exonic |
nonsynonymous SNV |
SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R |
RS4656197 |
Triglycerides:Differential exon
level expression of C1orf112 [probe 2366603] in peripheral blood mononuclear
cells:Differential exon level expression of C1orf112 [probe 2366603] in brain
cortex:Alzheimer's disease:HOMA-B:HOMA-IR:Gene expression of SELL in
blood:Serum ratio of (androsterone sulfate)/(N2,N2-dimethylguanosine):Years
of education:Tetrology of fallot:Transmission distortion |
|
1 |
170501385 |
2 |
GORAB |
A |
C |
exonic |
synonymous SNV |
GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G |
|
1 |
170521376 |
1 |
GORAB |
G |
A |
exonic |
nonsynonymous SNV |
GORAB:NM_152281:exon5:c.G958A:p.E320K,GORAB:NM_001320252:exon7:c.G418A:p.E140K |
RS913257 |
Simpson-Angus Scale:Alzheimer's
disease:Serum ratio of (glycocholate)/(theophylline) |
|
1 |
171509327 |
1 |
PRRC2C |
G |
A |
exonic |
nonsynonymous SNV |
PRRC2C:NM_015172:exon16:c.G2716A:p.A906T |
RS760644 |
Simpson-Angus Scale |
|
1 |
171511039 |
1 |
PRRC2C |
C |
G |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S |
RS1687064 |
Triglycerides:Biploar disorder
(bipolar schizoaffective disorder):Triglycerides change with statins:Serum
creatinine:Body mass index (BMI) |
|
1 |
171514731 |
1 |
PRRC2C |
C |
G |
exonic |
nonsynonymous SNV |
PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C |
RS235468 |
Triglycerides change with
statins:Serum creatinine:Body mass index (BMI) |
|
1 |
171526570 |
1 |
PRRC2C |
G |
A |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P |
RS1687057 |
Simpson-Angus Scale:Triglycerides
change with statins:Serum creatinine:Body mass index (BMI):College
completion:Years of education |
|
1 |
171526910 |
1 |
PRRC2C |
G |
A |
exonic |
nonsynonymous SNV |
PRRC2C:NM_015172:exon19:c.G5653A:p.A1885T |
RS12025905 |
Rheumatoid arthritis:Methylation
levels at chr22:40286807-40286857 [hg18 coord, probe cg18174542] in Caudal
pons:Methylation levels at chr10:71562721-71562771 [hg18 coord, probe
cg26699283] in Caudal pons:Methylation levels at chr1:41022649-41022699 [hg18
coord, probe cg00630164] in Caudal pons:Asthma:Gene expression of KIAA0859 in
blood:Gene expression of [probe 2100722 centered at chr1:169939898] in
blood:Gene expression of BAT2D1 (ENSG00000117523) in dendritic cells treated
with Mycobacterium tuberculosis:Parkinson's disease |
|
1 |
171556165 |
1 |
PRRC2C |
G |
C |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S |
RS235501 |
Simpson-Angus Scale:Triglycerides
change with statins:Serum creatinine:Body mass index (BMI):College
completion:Years of education |
|
1 |
171751236 |
1 |
METTL13 |
T |
C |
exonic |
synonymous SNV |
METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H |
RS2294720 |
Recurrent early onset major
depressive disorder:Recurrent early onset major depressive disorder
(males):Urinary albumin-to-creatinine ratio:Microalbuminuria:Parkinson's
disease |
|
1 |
171753039 |
1 |
METTL13 |
A |
G |
exonic |
nonsynonymous SNV |
METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V |
RS2232816 |
Schizophrenia:Waist hip ratio:Gene
expression of KIAA0859 in blood:Serum ratio of (caproate
(6:0))/(glycerol):Bipolar disorder:Refractive error:Parkinson's disease |
|
1 |
171755170 |
1 |
METTL13 |
G |
A |
exonic |
synonymous SNV |
METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S |
RS2232818 |
Waist hip ratio:Bipolar
disorder:Parkinson's disease:Refractive error |
|
1 |
172410967 |
1 |
PIGC |
G |
A |
exonic |
nonsynonymous SNV |
PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S |
RS1063412 |
Biploar disorder (bipolar
schizoaffective disorder):Major depressive disorder:Methylation levels at
chr1:170680185-170680235 [hg18 coord, probe cg08587864] in
Cerebellum:Triglycerides:Asthma:Height:Urinary albumin-to-creatinine
ratio:Soluble CD14:Adiponectin levels:Diabetic retinopathy in Type 2 diabetes
mellitus:Years of education:Tetrology of fallot |
|
1 |
172411496 |
2 |
PIGC |
A |
G |
exonic |
synonymous SNV |
PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G |
RS2230471 |
Height:Waist hip ratio:Bipolar
disorder:Aortic valve calcium |
|
1 |
173878832 |
1 |
SERPINC1 |
T |
C |
exonic |
synonymous SNV |
SERPINC1:NM_000488:exon5:c.A1011G:p.Q337Q |
RS5878 |
2 hour insulin:Bipolar disorder,
combined control dataset:Gene expression of dJ383J4.3 in CEU-CHB-JPT-YRI
lymphoblastoid cell lines:Lp-PLA2 mass:Methylation levels at
chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Temporal
cortex:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe
cg14047008] in Caudal pons:Methylation levels at chr1:172153634-172153684
[hg18 coord, probe cg14047008] in Cerebellum:Gene expression of LAG3 in
peripheral blood monocytes:Gene expression of SPRR2F in peripheral blood
monocytes:Serum ratio of (1-methylxanthine)/(1,7-dimethylurate):Bipolar
disorder:Infant head circumference |
|
1 |
173878862 |
1 |
SERPINC1 |
T |
C |
exonic |
synonymous SNV |
SERPINC1:NM_000488:exon5:c.A981G:p.V327V |
RS5877 |
Methylation levels at
chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Temporal
cortex:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe
cg14047008] in Cerebellum:Methylation levels at chr1:172153634-172153684
[hg18 coord, probe cg14047008] in Caudal pons |
|
1 |
177929987 |
1 |
SEC16B |
T |
C |
exonic |
nonsynonymous SNV |
SEC16B:NM_033127:exon7:c.A875G:p.H292R |
RS12040910 |
HDL cholesterol change with statins |
|
1 |
179051300 |
2 |
TOR3A |
T |
C |
exonic |
nonsynonymous SNV |
TOR3A:NM_022371:exon1:c.T37C:p.F13L |
RS2296377 |
Total cholesterol change with
statins |
|
1 |
179084080 |
2 |
ABL2 |
T |
G |
exonic |
synonymous SNV |
ABL2:NM_001136001:exon8:c.A1431C:p.L477L,ABL2:NM_001168236:exon8:c.A1431C:p.L477L,ABL2:NM_001168238:exon8:c.A1431C:p.L477L,ABL2:NM_001168239:exon8:c.A1386C:p.L462L,ABL2:NM_001136000:exon9:c.A1449C:p.L483L,ABL2:NM_001168237:exon9:c.A1494C:p.L498L,ABL2:NM_005158:exon9:c.A1449C:p.L483L,ABL2:NM_007314:exon9:c.A1494C:p.L498L |
RS2274230 |
Total cholesterol:LDL
cholesterol:Total cholesterol:Microalbuminuria:Serum concentration of
gamma-glutamylphenylalanine:Maternal transmission
distortion:Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines |
|
1 |
179887125 |
2 |
TOR1AIP1 |
G |
A |
exonic |
synonymous SNV |
TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A |
RS627897 |
Triglycerides:Differential exon
level expression of TOR1AIP2 [probe 2446230] in brain cortex:Differential
exon level expression of TOR1AIP1 [probe 2369827] in brain cortex:Gene
expression of TMSL8 in peripheral blood monocytes:Height:Serum ratio of (dodecanedioate)/(indolepropionate) |
|
1 |
180124288 |
1 |
QSOX1 |
G |
C |
exonic |
synonymous SNV |
QSOX1:NM_001004128:exon1:c.G246C:p.A82A,QSOX1:NM_002826:exon1:c.G246C:p.A82A |
|
1 |
180145088 |
2 |
QSOX1 |
A |
G |
exonic |
synonymous SNV |
QSOX1:NM_001004128:exon4:c.A435G:p.T145T,QSOX1:NM_002826:exon4:c.A435G:p.T145T |
RS2298206 |
Comorbid depressive syndrome and
alcohol dependence |
|
1 |
180953853 |
1 |
STX6 |
A |
G |
exonic |
synonymous SNV |
STX6:NM_001286210:exon5:c.T348C:p.N116N,STX6:NM_005819:exon7:c.T651C:p.N217N |
RS3747957 |
HDL cholesterol:Rheumatoid
arthritis:Years of education |
|
1 |
181058272 |
1 |
IER5 |
G |
T |
exonic |
synonymous SNV |
IER5:NM_016545:exon1:c.G234T:p.G78G |
|
1 |
182850727 |
2 |
DHX9 |
T |
C |
exonic |
synonymous SNV |
DHX9:NM_001357:exon24:c.T2859C:p.T953T |
|
1 |
183072590 |
1 |
LAMC1 |
T |
C |
exonic |
synonymous SNV |
LAMC1:NM_002293:exon2:c.T546C:p.C182C |
RS2296288 |
Total cholesterol:HDL
cholesterol:LDL cholesterol:Height:Body mass index
(BMI):Microalbuminuria:Premature ovarian failure:Colorectal tumors |
|
1 |
183085755 |
1 |
LAMC1 |
A |
G |
exonic |
nonsynonymous SNV |
LAMC1:NM_002293:exon7:c.A1372G:p.I458V |
RS20563 |
Gene expression of LAMC1 [probe
2371065] in peripheral blood mononuclear cells:Childhood acute lymphoblastic
leukemia:Lp-PLA2 mass:Gene expression of LAMC1 in peripheral blood
monocytes:Microalbuminuria:Serum concentration of mannitol:Serum ratio of
(1,3,7-trimethylurate)/(DSGEGDFXAEGGGVR*):Sporadic Creutzfeldt-Jakob
disease:Colorectal tumors |
|
1 |
183086757 |
1 |
LAMC1 |
A |
C |
exonic |
synonymous SNV |
LAMC1:NM_002293:exon10:c.A1776C:p.A592A |
RS2296292 |
Total cholesterol:HDL
cholesterol:Height:Body mass index (BMI):Microalbuminuria:Premature ovarian
failure:Colorectal tumors |
|
1 |
183093875 |
1 |
LAMC1 |
T |
C |
exonic |
synonymous SNV |
LAMC1:NM_002293:exon14:c.T2511C:p.N837N |
|
1 |
183094547 |
1 |
LAMC1 |
T |
C |
exonic |
nonsynonymous SNV |
LAMC1:NM_002293:exon15:c.T2663C:p.L888P |
RS20558 |
Lp-PLA2 mass:Colorectal
tumors:Premature ovarian failure |
|
1 |
183105534 |
1 |
LAMC1 |
T |
C |
exonic |
synonymous SNV |
LAMC1:NM_002293:exon25:c.T4128C:p.R1376R |
RS20560 |
Comorbid depressive syndrome and
alcohol dependence:Premature ovarian failure |
|
1 |
183486859 |
2 |
SMG7 |
G |
A |
exonic |
synonymous SNV |
SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L |
RS789169 |
Waist hip ratio |
|
1 |
184020945 |
1 |
TSEN15 |
G |
A |
exonic |
nonsynonymous SNV |
TSEN15:NM_001127394:exon1:c.G56A:p.G19D,TSEN15:NM_001300764:exon1:c.G56A:p.G19D,TSEN15:NM_001300766:exon1:c.G56A:p.G19D,TSEN15:NM_052965:exon1:c.G56A:p.G19D |
RS2274432 |
Height:Height:LDL
cholesterol:Premature ovarian failure:Height:Height:Height:Height
(adults):HDL cholesterol:Height:Waist hip ratio:C1orf19 gene expression in
omental adipose tissue:Gene expression of TSEN15 in blood:Gene expression of
GLT25D2 in blood:Myopia |
|
1 |
184023529 |
1 |
TSEN15 |
A |
C |
exonic |
nonsynonymous SNV |
TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_001300764:exon2:c.A177C:p.Q59H,TSEN15:NM_001300766:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H |
RS1046934 |
Height:Gene expression of C1orf19
in liver:LDL cholesterol:Premature ovarian failure:HDL
cholesterol:Height:Gene expression:Waist hip ratio:Gene expression of GLT25D2
in blood:Gene expression of TSEN15 in blood:Serum ratio of
(lathosterol)/(scyllo-inositol):Height:Height:Height:Myopia |
|
1 |
185062259 |
1 |
RNF2 |
C |
G |
exonic |
nonsynonymous SNV |
RNF2:NM_007212:exon4:c.C315G:p.N105K |
|
1 |
185062301 |
1 |
RNF2 |
G |
A |
exonic |
synonymous SNV |
RNF2:NM_007212:exon4:c.G357A:p.E119E |
|
1 |
185062330 |
1 |
RNF2 |
C |
T |
exonic |
nonsynonymous SNV |
RNF2:NM_007212:exon4:c.C386T:p.A129V |
|
1 |
185062339 |
1 |
RNF2 |
A |
G |
exonic |
nonsynonymous SNV |
RNF2:NM_007212:exon4:c.A395G:p.N132S |
|
1 |
185062379 |
1 |
RNF2 |
G |
A |
exonic |
synonymous SNV |
RNF2:NM_007212:exon4:c.G435A:p.E145E |
|
1 |
186301436 |
1 |
TPR |
C |
T |
exonic |
nonsynonymous SNV |
TPR:NM_003292:exon38:c.G5495A:p.R1832H |
|
1 |
197070697 |
1 |
ASPM |
T |
C |
exonic |
nonsynonymous SNV |
ASPM:NM_018136:exon18:c.A7684G:p.S2562G |
|
1 |
197070707 |
1 |
ASPM |
G |
A |
exonic |
synonymous SNV |
ASPM:NM_018136:exon18:c.C7674T:p.I2558I |
|
1 |
197070901 |
1 |
ASPM |
A |
G |
exonic |
nonsynonymous SNV |
ASPM:NM_018136:exon18:c.T7480C:p.Y2494H |
|
1 |
197704841 |
2 |
DENND1B |
A |
G |
exonic |
synonymous SNV |
DENND1B:NM_001195216:exon3:c.T168C:p.P56P |
|
1 |
197704846 |
2 |
DENND1B |
A |
G |
exonic |
nonsynonymous SNV |
DENND1B:NM_001195216:exon3:c.T163C:p.F55L |
|
1 |
197874949 |
1 |
C1orf53 |
T |
C |
exonic |
synonymous SNV |
C1orf53:NM_001024594:exon2:c.T288C:p.D96D |
RS2270763 |
Tardive dyskinesia:Triglycerides
change with statins:Serum ratio of
(gamma-glutamylisoleucine*)/(glutamate):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy) |
|
1 |
200522566 |
2 |
KIF14 |
G |
C |
exonic |
nonsynonymous SNV |
KIF14:NM_001305792:exon28:c.C3424G:p.P1142A,KIF14:NM_014875:exon30:c.C4897G:p.P1633A |
RS12120084 |
2 hour glucose:HDL cholesterol:Serum
creatinine:LDL cholesterol:Height |
|
1 |
200558363 |
2 |
KIF14 |
T |
C |
exonic |
synonymous SNV |
KIF14:NM_001305792:exon16:c.A1623G:p.E541E,KIF14:NM_014875:exon18:c.A3096G:p.E1032E |
RS6665951 |
Type 2 diabetes:HDL
cholesterol:Serum creatinine:HDL cholesterol:Body mass index (BMI):Serum
ratio of (adenosine)/(bradykinin, des-arg(9)):Aortic valve calcium |
|
1 |
200618238 |
2 |
DDX59 |
T |
C |
exonic |
synonymous SNV |
DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S |
RS6665604 |
Arthritis including
non-Rheumatoid:Cystatin C in serum:Serum concentration of lathosterol |
|
1 |
200867492 |
1 |
C1orf106 |
C |
G |
exonic |
synonymous SNV |
C1orf106:NM_018265:exon2:c.C261G:p.P87P |
|
1 |
200880978 |
1 |
C1orf106 |
C |
T |
exonic |
nonsynonymous SNV |
C1orf106:NM_001142569:exon9:c.C1357T:p.R453C,C1orf106:NM_018265:exon9:c.C1654T:p.R552C |
|
1 |
200881172 |
1 |
C1orf106 |
C |
A |
exonic |
synonymous SNV |
C1orf106:NM_001142569:exon9:c.C1551A:p.R517R,C1orf106:NM_018265:exon9:c.C1848A:p.R616R |
|
1 |
201112981 |
2 |
TMEM9 |
A |
G |
exonic |
synonymous SNV |
TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y |
RS8158 |
HOMA-IR:Lp-PLA2 mass:Gene
expression of TMEM9 in peripheral blood monocytes:Triglycerides:Serum ratio
of (dehydroisoandrosterone sulfate (DHEA-S))/(riboflavin (Vitamin
B2)):Bipolar disorder:Aortic valve calcium |
|
1 |
201355522 |
1 |
LAD1 |
T |
C |
exonic |
nonsynonymous SNV |
LAD1:NM_005558:exon3:c.A967G:p.K323E |
RS4128458 |
Fasting blood glucose |
|
1 |
201355943 |
1 |
LAD1 |
C |
T |
exonic |
synonymous SNV |
LAD1:NM_005558:exon3:c.G546A:p.K182K |
RS2799677 |
Fasting blood glucose:hsa-miR-10a
miRNA expression in lymphoblastoid cell lines :hsa-miR-363 miRNA expression
in lymphoblastoid cell lines |
|
1 |
201934578 |
1 |
TIMM17A |
G |
A |
exonic |
nonsynonymous SNV |
TIMM17A:NM_006335:exon5:c.G337A:p.V113I |
RS4648 |
Total cholesterol:LDL
cholesterol:Microalbuminuria |
|
1 |
201969082 |
1 |
RNPEP |
G |
A |
exonic |
synonymous SNV |
RNPEP:NM_001319183:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319184:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319182:exon6:c.G750A:p.Q250Q,RNPEP:NM_020216:exon6:c.G1143A:p.Q381Q |
RS1130790 |
Radiation response to therapy
(radiation AUC):Gene expression of RNPEP in normal prepouch ileum:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
1 |
201970562 |
2 |
RNPEP |
T |
C |
exonic |
synonymous SNV |
RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V |
|
1 |
201981218 |
1 |
ELF3 |
C |
G |
exonic |
synonymous SNV |
ELF3:NM_001114309:exon3:c.C297G:p.G99G,ELF3:NM_004433:exon3:c.C297G:p.G99G |
|
1 |
201981862 |
1 |
ELF3 |
T |
C |
exonic |
synonymous SNV |
ELF3:NM_001114309:exon5:c.T573C:p.P191P,ELF3:NM_004433:exon5:c.T573C:p.P191P |
RS2819362 |
HOMA-B:Total cholesterol:Mitral
annular calcium:Gene expression of RNPEP in normal prepouch ileum |
|
1 |
202304868 |
1 |
UBE2T |
T |
C |
exonic |
synonymous SNV |
UBE2T:NM_014176:exon2:c.A15G:p.S5S |
RS14451 |
Triglycerides:Rheumatoid
arthritis:Body mass index (BMI):Serum concentration of taurochenodeoxycholate |
|
1 |
202698963 |
1 |
KDM5B |
A |
G |
exonic |
nonsynonymous SNV |
KDM5B:NM_001347591:exon25:c.T4234C:p.Y1412H,KDM5B:NM_006618:exon26:c.T4369C:p.Y1457H,KDM5B:NM_001314042:exon27:c.T4477C:p.Y1493H |
|
1 |
202705455 |
2 |
KDM5B |
G |
C |
exonic |
synonymous SNV |
KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P |
RS1141109 |
Fasting blood glucose:Total
cholesterol change with statins:Triglycerides change with statins:Serum ratio
of
(1-heptadecanoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Transmission
distortion:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight |
|
1 |
202715284 |
2 |
KDM5B |
G |
A |
exonic |
synonymous SNV |
KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y |
RS1141108 |
Fasting blood glucose:Total
cholesterol change with statins:Triglycerides change with statins:LDL
cholesterol change with statins:Birth weight:Diabetic retinopathy in Type 2
diabetes mellitus |
|
1 |
202718202 |
2 |
KDM5B |
G |
A |
exonic |
synonymous SNV |
KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H |
RS1892164 |
Fasting blood glucose:Triglycerides
change with statins:Total cholesterol change with statins |
|
1 |
202733238 |
2 |
KDM5B |
C |
T |
exonic |
synonymous SNV |
KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T |
RS3196669 |
Schizophrenia:Premature ovarian
failure:Fasting blood glucose:Total cholesterol change with
statins:Triglycerides change with statins:LDL cholesterol change with
statins:Pulse pressure:Gene expression of CYB5R1 in blood:Serum ratio of
(cysteine-glutathione disulfide)/(stearoylcarnitine):Birth weight:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
1 |
203667409 |
2 |
ATP2B4 |
T |
C |
exonic |
synonymous SNV |
ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L |
RS2228445 |
Triglycerides:Mean corpuscular
hemoglobin concentration (MCHC) |
|
1 |
203766827 |
1 |
ZBED6 |
T |
C |
exonic |
synonymous SNV |
ZBED6:NM_001174108:exon1:c.T177C:p.P59P |
RS872032 |
Total cholesterol change with
statins:Rheumatoid arthritis:LDL cholesterol:Height:Variant Creutzfeldt-Jakob
disease |
|
1 |
203818973 |
1 |
ZC3H11A |
C |
A |
exonic |
synonymous SNV |
ZC3H11A:NM_001350264:exon15:c.C1758A:p.A586A,ZC3H11A:NM_001350263:exon16:c.C1758A:p.A586A,ZC3H11A:NM_001350265:exon16:c.C1758A:p.A586A,ZC3H11A:NM_001319238:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001319239:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350261:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350262:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350266:exon17:c.C1758A:p.A586A,ZC3H11A:NM_014827:exon17:c.C1758A:p.A586A |
|
1 |
203821314 |
1 |
ZC3H11A |
G |
A |
exonic |
synonymous SNV |
ZC3H11A:NM_001350264:exon18:c.G2220A:p.P740P,ZC3H11A:NM_001350263:exon19:c.G2220A:p.P740P,ZC3H11A:NM_001350265:exon19:c.G2214A:p.P738P,ZC3H11A:NM_001319238:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001319239:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350261:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350262:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350266:exon20:c.G2214A:p.P738P,ZC3H11A:NM_014827:exon20:c.G2220A:p.P740P |
|
1 |
204159787 |
2 |
KISS1 |
G |
C |
exonic |
nonsynonymous SNV |
KISS1:NM_002256:exon3:c.C242G:p.P81R |
|
1 |
204198209 |
2 |
PLEKHA6 |
A |
G |
exonic |
synonymous SNV |
PLEKHA6:NM_014935:exon19:c.T2607C:p.H869H |
RS3795571 |
LDL cholesterol:Age at menarche |
|
1 |
204199614 |
2 |
PLEKHA6 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHA6:NM_014935:exon18:c.G2510A:p.R837K |
RS10900562 |
Simpson-Angus Scale:LDL
cholesterol:Total cholesterol |
|
1 |
204237416 |
2 |
PLEKHA6 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHA6:NM_014935:exon4:c.G127A:p.V43I |
RS10900571 |
Barnes Akathisia Rating
Scale:Bipolar disorder |
|
1 |
204379617 |
2 |
PPP1R15B |
T |
C |
exonic |
nonsynonymous SNV |
PPP1R15B:NM_032833:exon1:c.A923G:p.N308S |
RS3014626 |
Barnes Akathisia Rating Scale |
|
1 |
205053219 |
2 |
TMEM81 |
C |
T |
exonic |
nonsynonymous SNV |
TMEM81:NM_203376:exon1:c.G230A:p.R77Q |
RS4951168 |
Gene expression of RIPK5 in
peripheral blood monocytes:Waist hip ratio:Serum ratio of (trigonelline
(N'-methylnicotinate))/(ursodeoxycholate) |
|
1 |
205130413 |
2 |
DSTYK |
A |
G |
exonic |
nonsynonymous SNV |
DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R |
RS3851294 |
Waist hip ratio:Serum ratio of
(gamma-glutamylthreonine*)/(trans-4-hydroxyproline) |
|
1 |
205589574 |
1 |
ELK4 |
C |
T |
exonic |
synonymous SNV |
ELK4:NM_001973:exon3:c.G600A:p.P200P,ELK4:NM_021795:exon3:c.G600A:p.P200P |
|
1 |
206516261 |
1 |
SRGAP2 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
206566195 |
1 |
SRGAP2 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
206634429 |
1 |
SRGAP2 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
206647742 |
2 |
IKBKE |
A |
G |
exonic |
synonymous SNV |
IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q |
|
1 |
206647787 |
2 |
IKBKE |
T |
C |
exonic |
synonymous SNV |
IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I |
RS1539243 |
Arthritis including
non-Rheumatoid:Gene expression of IKBKE in peripheral blood
monocytes:Autism:Body mass index (BMI):Gene expression of IKBKE///C1orf147 in
blood:Gene expression of [probe 3130152 centered at chr1:204744311] in
blood:Serum concentration of pantothenate:Coronary artery disease (CAD) |
|
1 |
206905043 |
1 |
MAPKAPK2 |
C |
T |
exonic |
synonymous SNV |
MAPKAPK2:NM_004759:exon8:c.C951T:p.T317T,MAPKAPK2:NM_032960:exon8:c.C951T:p.T317T |
RS4073250 |
HOMA-IR:Asthma:PROP taste detection
threshold:Resistance to kuru in aged women despite likely exposure |
|
1 |
207297680 |
2 |
C4BPA |
T |
C |
exonic |
synonymous SNV |
C4BPA:NM_000715:exon6:c.T675C:p.G225G |
RS1126618 |
Gene expression of [probe 2340220
centered at chr1:205600102] in blood:Endometriosis |
|
1 |
207304900 |
1 |
C4BPA |
T |
C |
exonic |
nonsynonymous SNV |
C4BPA:NM_000715:exon8:c.T899C:p.I300T |
RS4844573 |
Neuroticism:Rheumatoid
arthritis:Tardive dyskinesia:Gene expression of CD55 in peripheral blood
monocytes:Gene expression of [probe 2340220 centered at chr1:205600102] in
blood:Serum ratio of (arabinose)/(glutamate) |
|
1 |
207925595 |
1 |
CD46 |
C |
T |
exonic |
nonsynonymous SNV |
CD46:NM_002389:exon1:c.C38T:p.S13F,CD46:NM_153826:exon1:c.C38T:p.S13F,CD46:NM_172350:exon1:c.C38T:p.S13F,CD46:NM_172351:exon1:c.C38T:p.S13F,CD46:NM_172352:exon1:c.C38T:p.S13F,CD46:NM_172353:exon1:c.C38T:p.S13F,CD46:NM_172359:exon1:c.C38T:p.S13F,CD46:NM_172361:exon1:c.C38T:p.S13F |
|
1 |
207933047 |
1 |
CD46 |
C |
T |
exonic |
synonymous SNV |
CD46:NM_002389:exon4:c.C453T:p.S151S,CD46:NM_153826:exon4:c.C453T:p.S151S,CD46:NM_172350:exon4:c.C453T:p.S151S,CD46:NM_172351:exon4:c.C453T:p.S151S,CD46:NM_172352:exon4:c.C453T:p.S151S,CD46:NM_172353:exon4:c.C453T:p.S151S,CD46:NM_172359:exon4:c.C453T:p.S151S,CD46:NM_172361:exon4:c.C453T:p.S151S |
|
1 |
211836789 |
2 |
NEK2 |
T |
C |
exonic |
synonymous SNV |
NEK2:NM_002497:exon8:c.A1317G:p.R439R |
RS12031285 |
Urinary albumin-to-creatinine
ratio:Body mass index (BMI):Obesity (body mass index (BMI)):Parkinson's
disease |
|
1 |
211840498 |
1 |
NEK2 |
T |
C |
exonic |
nonsynonymous SNV |
NEK2:NM_001204182:exon7:c.A1061G:p.N354S,NEK2:NM_001204183:exon7:c.A1061G:p.N354S,NEK2:NM_002497:exon7:c.A1061G:p.N354S |
RS2230489 |
Urinary albumin-to-creatinine ratio |
|
1 |
211846876 |
2 |
NEK2 |
A |
G |
exonic |
synonymous SNV |
NEK2:NM_001204182:exon3:c.T504C:p.H168H,NEK2:NM_001204183:exon3:c.T504C:p.H168H,NEK2:NM_002497:exon3:c.T504C:p.H168H |
RS701929 |
Serum ratio of
(caffeine)/(gamma-glutamylglutamate):Refractive error |
|
1 |
211848807 |
1 |
NEK2 |
A |
C |
exonic |
synonymous SNV |
NEK2:NM_001204182:exon1:c.T15G:p.A5A,NEK2:NM_001204183:exon1:c.T15G:p.A5A,NEK2:NM_002497:exon1:c.T15G:p.A5A |
|
1 |
212273639 |
2 |
DTL |
C |
T |
exonic |
nonsynonymous SNV |
DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V |
RS3135474 |
Aortic valve calcium |
|
1 |
212560327 |
2 |
TMEM206 |
A |
G |
exonic |
synonymous SNV |
TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F |
|
1 |
212619339 |
1 |
NENF |
T |
C |
exonic |
synonymous SNV |
NENF:NM_013349:exon4:c.T510C:p.D170D |
RS4804 |
Gene expression of TMEM206 [probe
222752_s_at] in lymphoblastoid cell lines:HOMA-IR:Total cholesterol:Waist hip
ratio:Serum ratio of (gamma-tocopherol)/(pyridoxate):Comorbid depressive
syndrome and alcohol dependence:Gene expression of TMEM206 in normal prepouch
ileum:Alcohol dependence:Alcohol dependence symptom count |
|
1 |
213031948 |
1 |
FLVCR1 |
G |
C |
exonic |
nonsynonymous SNV |
FLVCR1:NM_014053:exon1:c.G154C:p.A52P |
RS11120047 |
HOMA-IR:Fasting insulin:LDL
cholesterol change with statins:HDL cholesterol |
|
1 |
213068595 |
1 |
FLVCR1 |
C |
T |
exonic |
nonsynonymous SNV |
FLVCR1:NM_014053:exon10:c.C1631T:p.T544M |
RS3207090 |
Gene expression of LQK1 [probe
235126_at] in lymphoblastoid cell lines:Eye color:Stabilized warfarin
dose:HDL cholesterol:Gene expression of FLVCR1 in peripheral blood
monocytes:Gene expression of NSL1 in peripheral blood monocytes:HDL
cholesterol:Gene expression of LOC149643 in CD4+ lymphocytes:Gene expression
of FLVCR1 in blood:Gene expression of ENST00000356684 in blood:Gene
expression of NSL1 in blood:Serum ratio of
(7-methylxanthine)/(gamma-tocopherol):Gene expression of LQK1 [probeset
235126_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of
NSL1 in normal prepouch ileum:Gene expression of FLVCR1-AS1 in normal
prepouch ileum |
|
1 |
214492286 |
2 |
SMYD2 |
G |
A |
exonic |
nonsynonymous SNV |
SMYD2:NM_020197:exon5:c.G494A:p.G165E |
RS1134647 |
Fasting blood glucose:Rheumatoid
arthritis:Waist hip ratio:Serum concentration of
1-eicosatrienoylglycerophosphocholine*:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
1 |
214813487 |
1 |
CENPF |
A |
G |
exonic |
synonymous SNV |
CENPF:NM_016343:exon12:c.A1806G:p.L602L |
RS2070066 |
Serum concentration of
glycerol:Refractive error |
|
1 |
214813941 |
1 |
CENPF |
C |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.C2260G:p.Q754E |
RS3795523 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214814125 |
1 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.G2444A:p.R815H |
RS3795522 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214814582 |
1 |
CENPF |
G |
A |
exonic |
synonymous SNV |
CENPF:NM_016343:exon12:c.G2901A:p.R967R |
RS3795520 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214814733 |
1 |
CENPF |
T |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.T3052G:p.Y1018D |
RS3795519 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214814778 |
1 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.G3097A:p.G1033R |
RS3795518 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214814995 |
1 |
CENPF |
C |
T |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.C3314T:p.T1105I |
RS12067133 |
HDL cholesterol change with
statins:Serum ratio of
(3-methoxytyrosine)/(7-alpha-hydroxy-3-oxo-4-cholestenoate (7-Hoca)):Sporadic
Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Aortic
valve calcium:Hypertension (early onset hypertension) |
|
1 |
214815916 |
1 |
CENPF |
T |
C |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.T4235C:p.L1412S |
RS3795517 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214816142 |
1 |
CENPF |
T |
G |
exonic |
synonymous SNV |
CENPF:NM_016343:exon12:c.T4461G:p.L1487L |
RS3795516 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214816297 |
1 |
CENPF |
A |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.A4616G:p.K1539R |
RS3795514 |
HDL cholesterol change with
statins:PROP taste detection threshold:Obesity with early age of onset (age
>2):Aortic valve calcium |
|
1 |
214818215 |
1 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.G5302A:p.D1768N |
|
1 |
214818223 |
1 |
CENPF |
T |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.T5310A:p.H1770Q |
RS3748693 |
HDL cholesterol change with
statins:Birth weight |
|
1 |
214818846 |
1 |
CENPF |
A |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.A5933G:p.D1978G |
RS3790646 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214818945 |
1 |
CENPF |
A |
C |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.A6032C:p.E2011A |
RS3790647 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214819587 |
1 |
CENPF |
A |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.A6674G:p.Q2225R |
RS12058704 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214819980 |
1 |
CENPF |
C |
T |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.C7067T:p.A2356V |
RS3748696 |
HDL cholesterol change with
statins:Total cholesterol:Aortic valve calcium |
|
1 |
214820299 |
1 |
CENPF |
A |
G |
exonic |
synonymous SNV |
CENPF:NM_016343:exon13:c.A7386G:p.E2462E |
RS3748698 |
Amyotrophic lateral sclerosis
(ALS):HDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob
disease:Aortic valve calcium:Obesity with early age of onset (age
>2):Hypertension (early onset hypertension) |
|
1 |
214820494 |
1 |
CENPF |
G |
A |
exonic |
synonymous SNV |
CENPF:NM_016343:exon13:c.G7581A:p.L2527L |
RS3790648 |
HDL cholesterol change with
statins:Serum concentration of glycerol:Aortic valve calcium |
|
1 |
214820524 |
1 |
CENPF |
T |
C |
exonic |
synonymous SNV |
CENPF:NM_016343:exon13:c.T7611C:p.L2537L |
RS3790649 |
HDL cholesterol change with
statins:Aortic valve calcium |
|
1 |
214826196 |
2 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon16:c.G8186A:p.R2729Q |
RS335524 |
Stabilized warfarin
dose:Longstanding arthritis:Height:Adiponectin levels:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight |
|
1 |
214830617 |
2 |
CENPF |
A |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon18:c.A8827G:p.R2943G |
RS438034 |
Neuroblastoma (brain
cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy
(progression free survival):Serum ratio of (3-phenylpropionate
(hydrocinnamate))/(androsterone sulfate):Topiramate plasma level change in
healthy volunteers in response to topiramate treatment:Multiple myeloma:Birth
weight:Adiponectin levels |
|
1 |
214837110 |
2 |
CENPF |
C |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon20:c.C9318G:p.N3106K |
RS7289 |
Lp-PLA2 mass:Birth
weight:Adiponectin levels |
|
1 |
215793834 |
2 |
KCTD3 |
G |
A |
exonic |
synonymous SNV |
KCTD3:NM_001319294:exon18:c.G2316A:p.A772A,KCTD3:NM_001319295:exon18:c.G2010A:p.A670A,KCTD3:NM_016121:exon18:c.G2322A:p.A774A |
RS14137 |
Serum creatinine:Years of
education:College completion |
|
1 |
219383905 |
2 |
LYPLAL1 |
A |
G |
exonic |
nonsynonymous SNV |
LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M |
|
1 |
220197625 |
2 |
EPRS |
G |
T |
exonic |
nonsynonymous SNV |
EPRS:NM_004446:exon8:c.C924A:p.D308E |
RS2230301 |
Stabilized warfarin
dose:Triglycerides:Differential exon level expression of EPRS [probe 2456787]
in peripheral blood mononuclear cells:Differential exon level expression of
EPRS [probe 2456787] in brain cortex:Aortic valve calcium:Amyotrophic lateral
sclerosis (ALS) age of onset:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy) |
|
1 |
220970028 |
2 |
1-Mar |
A |
G |
exonic |
nonsynonymous SNV |
MARC1:NM_022746:exon3:c.A493G:p.T165A |
RS2642438 |
Rheumatoid arthritis:HDL
cholesterol:LDL cholesterol:Serum creatinine:Triglycerides:HDL
cholesterol:Total cholesterol:LDL cholesterol:Plasma docosapentaenoic acid
levels |
|
1 |
222802006 |
2 |
MIA3 |
A |
G |
exonic |
nonsynonymous SNV |
MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E |
|
1 |
222802376 |
1 |
MIA3 |
A |
G |
exonic |
nonsynonymous SNV |
MIA3:NM_001324062:exon4:c.A1814G:p.K605R,MIA3:NM_001324063:exon4:c.A1814G:p.K605R,MIA3:NM_198551:exon4:c.A1814G:p.K605R,MIA3:NM_001324064:exon5:c.A1322G:p.K441R |
|
1 |
222802803 |
1 |
MIA3 |
T |
G |
exonic |
synonymous SNV |
MIA3:NM_001324062:exon4:c.T2241G:p.P747P,MIA3:NM_001324063:exon4:c.T2241G:p.P747P,MIA3:NM_198551:exon4:c.T2241G:p.P747P,MIA3:NM_001324064:exon5:c.T1749G:p.P583P |
|
1 |
222802926 |
2 |
MIA3 |
C |
T |
exonic |
synonymous SNV |
MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S |
|
1 |
222803204 |
1 |
MIA3 |
A |
G |
exonic |
nonsynonymous SNV |
MIA3:NM_001324062:exon4:c.A2642G:p.E881G,MIA3:NM_001324063:exon4:c.A2642G:p.E881G,MIA3:NM_198551:exon4:c.A2642G:p.E881G,MIA3:NM_001324064:exon5:c.A2150G:p.E717G |
|
1 |
222833601 |
2 |
MIA3 |
T |
C |
exonic |
synonymous SNV |
MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P |
|
1 |
223900408 |
2 |
CAPN2 |
C |
G |
exonic |
nonsynonymous SNV |
CAPN2:NM_001748:exon1:c.C66G:p.D22E |
|
1 |
223934720 |
2 |
CAPN2 |
G |
A |
exonic |
synonymous SNV |
CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A |
|
1 |
224495852 |
2 |
NVL |
C |
T |
exonic |
synonymous SNV |
NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R |
RS7534447 |
HDL cholesterol |
|
1 |
225607144 |
2 |
LBR |
C |
T |
exonic |
nonsynonymous SNV |
LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N |
RS2230419 |
Rheumatoid arthritis |
|
1 |
225609884 |
2 |
LBR |
A |
G |
exonic |
synonymous SNV |
LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P |
RS1056608 |
Serum creatinine:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
1 |
225611661 |
1 |
LBR |
C |
T |
exonic |
synonymous SNV |
LBR:NM_002296:exon2:c.G117A:p.V39V,LBR:NM_194442:exon2:c.G117A:p.V39V |
RS1056607 |
Triglycerides:LDL cholesterol
change with statins:Serum ratio of (1-stearoylglycerol
(1-monostearin))/(isoleucine) |
|
1 |
226109284 |
1 |
PYCR2 |
G |
A |
exonic |
synonymous SNV |
PYCR2:NM_001271681:exon4:c.C379T:p.L127L,PYCR2:NM_013328:exon5:c.C601T:p.L201L |
|
1 |
226555302 |
1 |
PARP1 |
A |
G |
exonic |
nonsynonymous SNV |
PARP1:NM_001618:exon17:c.T2285C:p.V762A |
RS1136410 |
Hypertension, combined control
dataset, gender differentiated:Eye color:LDL cholesterol:Chronic kidney
disease:Gene expression of TNFRSF10D in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Waist hip ratio:Neuroblastoma (brain
cancer):Gene expression of PARP1 in blood:Serum ratio of
(arabinose)/(aspartylphenylalanine):Age at death with kuru exposure:Infant
head circumference:Refractive error:Salmonella-induced pyroptosis:Coronary
artery disease (CAD) |
|
1 |
226570840 |
1 |
PARP1 |
T |
C |
exonic |
synonymous SNV |
PARP1:NM_001618:exon8:c.A1056G:p.K352K |
RS1805415 |
LDL cholesterol:Chronic kidney
disease:LDL cholesterol:Total cholesterol:Waist hip ratio:Refractive
error:Infant head circumference |
|
1 |
226573364 |
2 |
PARP1 |
A |
G |
exonic |
synonymous SNV |
PARP1:NM_001618:exon7:c.T852C:p.A284A |
RS1805414 |
Chronic kidney disease:Refractive
error:Salmonella-induced pyroptosis |
|
1 |
226589958 |
1 |
PARP1 |
G |
A |
exonic |
synonymous SNV |
PARP1:NM_001618:exon2:c.C243T:p.D81D |
RS1805404 |
Gene expression of TNFRSF10D in
peripheral blood monocytes:Refractive error:Salmonella-induced pyroptosis |
|
1 |
227149203 |
1 |
COQ8A |
G |
A |
exonic |
synonymous SNV |
COQ8A:NM_020247:exon2:c.G117A:p.A39A |
RS11549708 |
Comorbid depressive syndrome and
alcohol dependence |
|
1 |
227172290 |
2 |
COQ8A |
C |
T |
exonic |
synonymous SNV |
COQ8A:NM_020247:exon12:c.C1440T:p.F480F |
RS12593 |
Suicide attempts in major
depressive disorder:Suicide attempts in mood disorder patients:Serum ratio of
(ascorbate (Vitamin C))/(stachydrine):Gene expression of CABC1 (probeID
ILMN_1731064) in whole blood |
|
1 |
227174210 |
2 |
COQ8A |
T |
C |
exonic |
synonymous SNV |
COQ8A:NM_020247:exon15:c.T1716C:p.S572S |
RS3738725 |
Gene expression of CABC1 in blood
cells in Celiac disease:Differential exon level expression of CABC1 [probe
2383420] in peripheral blood mononuclear cells:Premature ovarian failure:Gene
expression of PSEN2///AL391628.18 in blood:Gene expression of CABC1 in
blood:Serum concentration of phenol sulfate:Gene expression of CABC1
[probeset 218168_s_at] in sputum:Comorbid depressive syndrome and alcohol
dependence:Age at death with kuru exposure:Gene expression of CABC1 (probeID
ILMN_1731064) in whole blood |
|
1 |
227182033 |
2 |
CDC42BPA |
G |
A |
exonic |
nonsynonymous SNV |
CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V |
RS2802269 |
Triglycerides:Adiponectin levels |
|
1 |
227182575 |
2 |
CDC42BPA |
A |
G |
exonic |
synonymous SNV |
CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S |
RS1045247 |
Schizophrenia:LDL cholesterol
change with statins:Microalbuminuria:Late onset Alzheimer's disease:Gene
expression of CABC1 in blood:Serum ratio of (bilirubin (E,Z or
Z,E)*)/(taurodeoxycholate):Sporadic Creutzfeldt-Jakob disease |
|
1 |
227216662 |
2 |
CDC42BPA |
T |
C |
exonic |
synonymous SNV |
CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K |
RS1929861 |
Microalbuminuria:Gene expression of
CABC1 in blood:Variant Creutzfeldt-Jakob disease:Infant head circumference |
|
1 |
227920103 |
2 |
JMJD4 |
G |
A |
exonic |
nonsynonymous SNV |
JMJD4:NM_001161465:exon6:c.C1334T:p.A445V,JMJD4:NM_023007:exon6:c.C1382T:p.A461V |
|
1 |
227922918 |
2 |
JMJD4 |
A |
C |
exonic |
nonsynonymous SNV |
JMJD4:NM_001161465:exon1:c.T195G:p.D65E,JMJD4:NM_023007:exon1:c.T195G:p.D65E |
RS2295994 |
Height:Waist hip ratio:Refractive
error |
|
1 |
227935444 |
2 |
SNAP47 |
A |
G |
exonic |
nonsynonymous SNV |
SNAP47:NM_001323930:exon2:c.A7G:p.R3G,SNAP47:NM_001323934:exon2:c.A7G:p.R3G,SNAP47:NM_001323935:exon2:c.A142G:p.R48G,SNAP47:NM_053052:exon2:c.A142G:p.R48G,SNAP47:NM_001323931:exon3:c.A7G:p.R3G,SNAP47:NM_001323932:exon3:c.A7G:p.R3G,SNAP47:NM_001323933:exon4:c.A7G:p.R3G |
RS2236359 |
Stabilized warfarin dose:Lp-PLA2
activity:Gene expression of JMJD4 in CD4+ lymphocytes:Height:Waist hip
ratio:Gene expression of SNAP47 [transcript NM_053052, probe A_23_P393607] in
liver:Gene expression of C1orf142///JMJD4 in blood:Transmission distortion:Hypothyroidism:Refractive
error:Paternal transmission distortion |
|
1 |
228353651 |
2 |
IBA57 |
G |
C |
exonic |
nonsynonymous SNV |
IBA57:NM_001010867:exon1:c.G134C:p.G45A |
|
1 |
229461024 |
1 |
CCSAP |
C |
T |
exonic |
synonymous SNV |
CCSAP:NM_145257:exon4:c.G771A:p.P257P |
RS2282083 |
Triglycerides change with
statins:Diastolic blood pressure (DBP):Aortic valve calcium |
|
1 |
229622162 |
2 |
NUP133 |
A |
G |
exonic |
synonymous SNV |
NUP133:NM_018230:exon11:c.T1456C:p.L486L |
|
1 |
229623338 |
2 |
NUP133 |
T |
C |
exonic |
nonsynonymous SNV |
NUP133:NM_018230:exon10:c.A1217G:p.Q406R |
RS1065674 |
Spine bone mineral density
(BMD):Panic disorder:Total cholesterol:LDL cholesterol:Lp-PLA2
activity:Triglycerides:Serum concentration of saccharin:Salmonella-induced
pyroptosis |
|
1 |
229631734 |
2 |
NUP133 |
T |
C |
exonic |
nonsynonymous SNV |
NUP133:NM_018230:exon7:c.A880G:p.I294V |
RS11805194 |
Spine bone mineral density
(BMD):Total cholesterol:LDL cholesterol:Serum creatinine:Lp-PLA2
activity:Salmonella-induced pyroptosis |
|
1 |
229635521 |
2 |
NUP133 |
A |
G |
exonic |
synonymous SNV |
NUP133:NM_018230:exon5:c.T558C:p.Y186Y |
RS10916495 |
Total cholesterol:LDL
cholesterol:Serum creatinine:Salmonella-induced pyroptosis |
|
1 |
229683264 |
2 |
ABCB10 |
G |
A |
exonic |
synonymous SNV |
ABCB10:NM_012089:exon3:c.C903T:p.S301S |
RS3738187 |
LDL cholesterol:Serum
creatinine:Cystatin C in serum:Age at death with kuru exposure |
|
1 |
229730452 |
2 |
TAF5L |
G |
A |
exonic |
synonymous SNV |
TAF5L:NM_014409:exon5:c.C1362T:p.S454S |
RS2295625 |
Stabilized warfarin
dose:Longstanding arthritis:Arthritis including non-Rheumatoid:Total
cholesterol change with statins:Neuroblastoma (brain cancer):Gene expression
of KIAA0133 [probe ILMN_5835] in osteoblasts treated with BMP2:Gene
expression of KIAA0133 [probe ILMN_5835] in osteoblasts treated with bmp:Gene
expression of [probe Human_RefSeq-8_v2-6270750 centered at chr1:227801787] in
blood:Gene expression of KIAA0133 in blood:Serum concentration of
1-stearoylglycerol (1-monostearin):Variant Creutzfeldt-Jakob disease:Sporadic
Creutzfeldt-Jakob disease |
|
1 |
229737995 |
1 |
TAF5L |
G |
A |
exonic |
nonsynonymous SNV |
TAF5L:NM_001025247:exon4:c.C919T:p.H307Y,TAF5L:NM_014409:exon4:c.C919T:p.H307Y |
|
1 |
229738170 |
2 |
TAF5L |
T |
G |
exonic |
synonymous SNV |
TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R |
RS3753886 |
Neuroticism:Lp-PLA2
activity:Salmonella-induced pyroptosis:Acute lung injury following major
trauma |
|
1 |
229738236 |
2 |
TAF5L |
G |
A |
exonic |
synonymous SNV |
TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P |
RS4925500 |
Serum ratio of
(1-heptadecanoylglycerophosphocholine)/(allantoin) |
|
1 |
229772693 |
2 |
URB2 |
T |
G |
exonic |
nonsynonymous SNV |
URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G |
RS3811473 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of TAF5L in blood cells in Celiac
disease:Gene expression of KIAA0133 in blood:Gene expression of [probe
Human_RefSeq-8_v2-6270750 centered at chr1:227801787] in blood:Serum concentration
of 1-stearoylglycerol (1-monostearin):Sporadic Creutzfeldt-Jakob
disease:Salmonella-induced pyroptosis:Acute lung injury following major
trauma |
|
1 |
229790048 |
2 |
URB2 |
A |
G |
exonic |
synonymous SNV |
URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R |
RS7521953 |
Total cholesterol:Lp-PLA2
activity:Serum concentration of scyllo-inositol:Acute lung injury following
major trauma:Salmonella-induced pyroptosis |
|
1 |
230829139 |
1 |
COG2 |
A |
G |
exonic |
synonymous SNV |
COG2:NM_001145036:exon18:c.A2214G:p.X738X,COG2:NM_007357:exon18:c.A2217G:p.X739X |
RS1051038 |
2 hour glucose:Lp-PLA2
activity:Gene expression of NUDT15 in peripheral blood monocytes:Gene
expression of COG2 in normal prepouch ileum |
|
1 |
230841687 |
2 |
AGT |
T |
C |
exonic |
synonymous SNV |
AGT:NM_000029:exon3:c.A1116G:p.L372L |
|
1 |
230845794 |
2 |
AGT |
A |
G |
exonic |
nonsynonymous SNV |
AGT:NM_000029:exon2:c.T803C:p.M268T |
RS699 |
Partial
epilepsy:Asthma:Hypertension:Gene expression of COG2 in normal prepouch
ileum:Hypertriglyceridemia:Gene expression of AGT (probeID ILMN_1813530) in
cerebellum in Alzheimer's disease cases:Gene expression of AGT (probeID
ILMN_1813530) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of AGT (probeID ILMN_1813530) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of AGT (probeID ILMN_1813530) in
cerebellum in non-Alzheimer's disease samples:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
1 |
231114465 |
2 |
TTC13 |
C |
G |
exonic |
nonsynonymous SNV |
TTC13:NM_001122835:exon1:c.G112C:p.G38R,TTC13:NM_024525:exon1:c.G112C:p.G38R |
|
1 |
231401902 |
2 |
GNPAT |
G |
A |
exonic |
synonymous SNV |
GNPAT:NM_001316350:exon6:c.G732A:p.E244E,GNPAT:NM_014236:exon7:c.G915A:p.E305E |
RS574553 |
LDL cholesterol change with
statins:Serum creatinine |
|
1 |
231408091 |
1 |
GNPAT |
A |
G |
exonic |
nonsynonymous SNV |
GNPAT:NM_001316350:exon10:c.A1373G:p.D458G,GNPAT:NM_014236:exon11:c.A1556G:p.D519G |
RS11558492 |
Schizophrenia:Differential exon
level expression of GNPAT [probe 2385228] in peripheral blood mononuclear
cells:Asthma:Serum ratio of (3-phenylpropionate
(hydrocinnamate))/(biliverdin):Systolic blood pressure (SBP):Sporadic
Creutzfeldt-Jakob disease:Age at death with kuru exposure:Gene expression of
EXOC8 (ENSG00000116903) in dendritic cells treated with Mycobacterium
tuberculosis |
|
1 |
231488524 |
1 |
SPRTN |
C |
T |
exonic |
nonsynonymous SNV |
SPRTN:NM_032018:exon5:c.C887T:p.P296L |
RS2437150 |
LDL cholesterol:Schizophrenia:Gene
expression of C1orf124 in CD4+ lymphocytes:Gene expression of C1orf124 [probe
ILMN_14527] in osteoblasts treated with PGE2:Gene expression of C1orf124
[probe ILMN_14527] in untreated osteoblasts:Rheumatoid arthritis:Gene
expression of C1orf124 [transcript NM_001010984, probe 1070592] in liver:Gene
expression of C1orf124 in blood:Gene expression of [probe 4010270 centered at
chr1:229729708] in blood:Hypertension (early onset hypertension):Normoxic and
mild-hypoxic adaptation in populations residing at low and moderate altitudes |
|
1 |
231830295 |
2 |
DISC1 |
G |
A |
exonic |
nonsynonymous SNV |
DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q |
RS3738401 |
Schizophrenia:Tardive
dyskinesia:Gene expression of DISC1 in blood |
|
1 |
234509259 |
2 |
COA6 |
G |
C |
exonic |
nonsynonymous SNV |
COA6:NM_001206641:exon1:c.G47C:p.S16T |
RS10910420 |
LDL cholesterol:Triglycerides
change with statins:Total cholesterol:LDL cholesterol:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP) |
|
1 |
234546245 |
2 |
TARBP1 |
C |
T |
exonic |
synonymous SNV |
TARBP1:NM_005646:exon23:c.G3738A:p.T1246T |
RS1141264 |
LDL cholesterol:LDL
cholesterol:Body mass index (BMI):Gene expression of C1orf31 [transcript
NM_001012985, probe A_23_P63459] in liver:Gene expression of C1orf31
[probeset 225638_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Mitral
annular calcium:Parkinson's disease |
|
1 |
234582651 |
1 |
TARBP1 |
T |
C |
exonic |
nonsynonymous SNV |
TARBP1:NM_005646:exon12:c.A2032G:p.S678G |
RS4920246 |
College completion |
|
1 |
234744480 |
1 |
IRF2BP2 |
G |
A |
exonic |
nonsynonymous SNV |
IRF2BP2:NM_001077397:exon1:c.C761T:p.A254V,IRF2BP2:NM_182972:exon1:c.C761T:p.A254V |
|
1 |
236141174 |
2 |
NID1 |
T |
C |
exonic |
nonsynonymous SNV |
NID1:NM_002508:exon20:c.A3737G:p.Q1246R |
RS3213190 |
Waist hip ratio:Serum ratio of
(butyrylcarnitine)/(gamma-glutamyltyrosine):Age at death with kuru
exposure:Transmission distortion:Paternal transmission distortion |
|
1 |
236144951 |
2 |
NID1 |
A |
G |
exonic |
synonymous SNV |
NID1:NM_002508:exon16:c.T3187C:p.L1063L |
RS3738525 |
Triglycerides:Waist hip ratio:Serum
ratio of (creatinine)/(tyrosine):Diastolic blood pressure (DBP):Age at death
with kuru exposure |
|
1 |
236208773 |
1 |
NID1 |
C |
T |
exonic |
nonsynonymous SNV |
NID1:NM_002508:exon3:c.G736A:p.V246I |
RS10733133 |
Triglycerides:HDL
cholesterol:Lp-PLA2 mass:Body mass index (BMI):Refractive error:Advanced
age-related macular degeneration (geographic atrophy) |
|
1 |
236700823 |
1 |
LGALS8 |
T |
C |
exonic |
synonymous SNV |
LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P |
RS1041934 |
Gene expression of HEATR1 in
lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with
statins:PROP taste detection threshold:Gene expression of LGALS8 in normal
prepouch ileum:Years of education:Salmonella-induced pyroptosis:College
completion |
|
1 |
236700857 |
1 |
LGALS8 |
C |
T |
exonic |
nonsynonymous SNV |
LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C |
RS1041935 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change
with statins:PROP taste detection threshold:Years of education:College
completion |
|
1 |
236702209 |
1 |
LGALS8 |
C |
T |
exonic |
synonymous SNV |
LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S |
|
1 |
236702210 |
2 |
LGALS8 |
A |
G |
exonic |
nonsynonymous SNV |
LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V |
|
1 |
236702374 |
1 |
LGALS8 |
G |
A |
exonic |
synonymous SNV |
LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L |
RS2472126 |
Triglycerides:HDL cholesterol
change with statins:Serum creatinine:Chronic kidney disease:PROP taste
detection threshold:Salmonella-induced pyroptosis:Years of education:College
completion:Gene expression of LGALS8 in normal prepouch ileum |
|
1 |
236716959 |
1 |
HEATR1 |
C |
T |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon43:c.G6159A:p.S2053S |
RS2275685 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection
threshold:Gene expression of LGALS8 in normal prepouch ileum:Salmonella-induced
pyroptosis:College completion |
|
1 |
236717926 |
1 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon42:c.A6050G:p.E2017G |
RS2275687 |
Triglycerides:HDL cholesterol
change with statins:PROP taste detection threshold:College
completion:Salmonella-induced pyroptosis:Years of education:Gene expression
of LGALS8 in normal prepouch ileum |
|
1 |
236718620 |
1 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon41:c.A5899G:p.N1967D |
RS1126627 |
LDL cholesterol:Serum
creatinine:Chronic kidney disease:Serum ratio of
(gamma-glutamylthreonine*)/(octadecanedioate):PROP taste detection
threshold:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of LGALS8 in normal
prepouch ileum:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum
in Progressive Supranuclear Palsy cases:Salmonella-induced pyroptosis:Gene
expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in Alzheimer's
disease cases:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum
in Alzheimer's disease cases:Gene expression of HEATR1 (probeID ILMN_1787762)
in cerebellum in non-Alzheimer's disease samples:Gene expression of HEATR1
(probeID ILMN_1787762) in temporal cortex in Alzheimer's disease cases and
controls |
|
1 |
236719135 |
2 |
HEATR1 |
T |
C |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon39:c.A5619G:p.E1873E |
|
1 |
236719193 |
1 |
HEATR1 |
A |
G |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon39:c.T5561C:p.V1854A |
RS1885533 |
Triglycerides:HDL cholesterol
change with statins:PROP taste detection threshold:College completion:Years
of education |
|
1 |
236721610 |
2 |
HEATR1 |
G |
A |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon36:c.C5131T:p.L1711L |
RS2275688 |
Triglycerides:HDL cholesterol
change with statins:College completion:Years of education:Salmonella-induced
pyroptosis |
|
1 |
236721660 |
2 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon36:c.A5081G:p.N1694S |
RS2275689 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:HDL cholesterol change with
statins:Total cholesterol:Asthma:Transmission distortion:Salmonella-induced
pyroptosis:College completion:Years of education |
|
1 |
236721731 |
2 |
HEATR1 |
T |
C |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon36:c.A5010G:p.A1670A |
|
1 |
236723108 |
1 |
HEATR1 |
C |
T |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon34:c.G4676A:p.S1559N |
RS6661946 |
HDL cholesterol:LDL
cholesterol:Nicotine dependence (smoking):Tardive dyskinesia:Abnormal
Involuntary Movement Scale:HOMA-B:Fasting blood glucose:Recurrent early onset
major depressive disorder:Recurrent early onset major depressive disorder
(females):Gene expression of LGALS8 in peripheral blood monocytes:Serum ratio
of
(1-heptadecanoylglycerophosphocholine)/(2-oleoylglycerophosphocholine*):Systolic
blood pressure (SBP):Gene expression of LGALS8 in normal prepouch
ileum:Transmission distortion:Birth weight |
|
1 |
236746443 |
1 |
HEATR1 |
C |
T |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon18:c.G2295A:p.V765V |
RS2794768 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection
threshold:Years of education:Salmonella-induced pyroptosis:College completion |
|
1 |
236749649 |
1 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon15:c.A1819G:p.M607V |
RS2794763 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with
statins:Gene expression of LGALS8 in blood:Serum ratio of
(3-carboxy-4-methyl-5-propyl-2-furanpropanoate (CMPF))/(arabinose):Years of
education |
|
1 |
236755837 |
1 |
HEATR1 |
C |
T |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon10:c.G1290A:p.R430R |
RS2564739 |
LDL cholesterol:HDL cholesterol
change with statins:PROP taste detection threshold:College completion:Years
of education |
|
1 |
236758887 |
1 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon8:c.A1043G:p.H348R |
RS2794751 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change
with statins:Asthma:PROP taste detection threshold:College
completion:Transmission distortion:Salmonella-induced pyroptosis:Years of
education:Paternal transmission distortion |
|
1 |
236767330 |
1 |
HEATR1 |
A |
G |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon2:c.T66C:p.S22S |
RS10802551 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol
change with statins:HDL cholesterol:Total cholesterol:Years of
education:College completion:Obesity with early age of onset (age >2) |
|
1 |
237058743 |
1 |
MTR |
G |
A |
exonic |
nonsynonymous SNV |
MTR:NM_001291939:exon30:c.G3338A:p.R1113H,MTR:NM_001291940:exon30:c.G2270A:p.R757H,MTR:NM_000254:exon31:c.G3491A:p.R1164H |
|
1 |
242042301 |
2 |
EXO1 |
G |
A |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_001319224:exon12:c.G1762A:p.E588K,EXO1:NM_130398:exon13:c.G1765A:p.E589K |
RS1047840 |
Schizophrenia:Lp-PLA2 mass:Partial
epilepsy:HDL cholesterol:Microalbuminuria:Late onset Alzheimer's
disease:Serum concentration of caffeine |
|
1 |
242042454 |
1 |
EXO1 |
C |
G |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon11:c.C1918G:p.P640A,EXO1:NM_006027:exon11:c.C1918G:p.P640A,EXO1:NM_001319224:exon12:c.C1915G:p.P639A,EXO1:NM_130398:exon13:c.C1918G:p.P640A |
|
1 |
242045275 |
2 |
EXO1 |
C |
T |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C |
|
1 |
246021941 |
1 |
SMYD3 |
T |
C |
exonic |
synonymous SNV |
SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A |
RS2362587 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:HDL
cholesterol:Triglycerides:Microalbuminuria:Advanced age-related macular
degeneration (geographic atrophy) |
|
1 |
246670481 |
2 |
SMYD3 |
C |
G |
exonic |
nonsynonymous SNV |
SMYD3:NM_001167740:exon1:c.G39C:p.K13N |
RS7520453 |
HDL cholesterol:Suicide attempts in
bipolar disorder (substance abuse/dependence):PROP taste detection
threshold:Adiponectin levels |
|
1 |
246714587 |
2 |
TFB2M |
G |
A |
exonic |
synonymous SNV |
TFB2M:NM_022366:exon5:c.C723T:p.P241P |
|
1 |
246720798 |
2 |
TFB2M |
G |
A |
exonic |
synonymous SNV |
TFB2M:NM_022366:exon3:c.C441T:p.I147I |
|
1 |
246755124 |
2 |
CNST |
T |
C |
exonic |
nonsynonymous SNV |
CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S |
RS6702823 |
Stabilized warfarin dose:2 hour
glucose:Rheumatoid arthritis:Serum ratio of
(2-stearoylglycerophosphocholine*)/(alpha-ketoglutarate):Maternal
transmission distortion:Parkinson's disease:Coronary artery disease
(CAD):Tetrology of fallot |
|
1 |
249142169 |
1 |
ZNF672 |
C |
T |
exonic |
synonymous SNV |
ZNF672:NM_024836:exon4:c.C696T:p.C232C |
|
1 |
249150116 |
1 |
ZNF692 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF692:NM_001193328:exon6:c.C554G:p.P185R,ZNF692:NM_001136036:exon7:c.C704G:p.P235R,ZNF692:NM_001350072:exon7:c.C686G:p.P229R,ZNF692:NM_001350073:exon7:c.C77G:p.P26R,ZNF692:NM_017865:exon7:c.C689G:p.P230R |
RS13313088 |
HDL cholesterol:LDL
cholesterol:Advanced age-related macular degeneration |
|
2 |
45895 |
2 |
FAM110C |
A |
G |
exonic |
nonsynonymous SNV |
FAM110C:NM_001077710:exon1:c.T491C:p.I164T |
|
2 |
3483181 |
1 |
TRAPPC12 |
C |
T |
exonic |
synonymous SNV |
TRAPPC12:NM_001321102:exon12:c.C2157T:p.V719V,TRAPPC12:NM_016030:exon12:c.C2157T:p.V719V |
|
2 |
3483205 |
2 |
TRAPPC12 |
C |
T |
exonic |
synonymous SNV |
TRAPPC12:NM_001321102:exon12:c.C2181T:p.F727F,TRAPPC12:NM_016030:exon12:c.C2181T:p.F727F |
RS6767 |
Eye color:Schizophrenia:Total
cholesterol change with statins:Pulse rate:Waist hip ratio:Gene expression of
TTC15 in blood:Gene expression of ADI1 in blood:Serum ratio of
(4-acetamidobutanoate)/(ursodeoxycholate):Gene expression of TTC15 (probeID
ILMN_1693317) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TTC15 (probeID ILMN_1693317) in temporal cortex in Alzheimer's
disease cases and controls |
|
2 |
3504687 |
1 |
ADI1 |
A |
G |
exonic |
synonymous SNV |
ADI1:NM_001306077:exon3:c.T300C:p.D100D,ADI1:NM_018269:exon3:c.T318C:p.D106D |
RS9950 |
Gene expression of SIPL in CHB-JPT
lymphoblastoid cell lines:Total cholesterol change with statins:Gene
expression of ADI1 (ENSG00000182551) in dendritic cells:Gene expression of
ADI1 (ENSG00000182551) in dendritic cells treated with Mycobacterium tuberculosis |
|
2 |
3597974 |
2 |
RNASEH1 |
T |
C |
exonic |
synonymous SNV |
RNASEH1:NM_001286834:exon4:c.A420G:p.P140P,RNASEH1:NM_001286837:exon4:c.A147G:p.P49P,RNASEH1:NM_002936:exon4:c.A498G:p.P166P |
RS10186193 |
Fasting blood glucose:Gene
expression of COLEC11 (probeID ILMN_1735192) in temporal cortex in
Alzheimer's disease cases and controls:Salmonella-induced pyroptosis:Gene
expression of COLEC11 (probeID ILMN_1735192) in cerebellum in Alzheimer's
disease cases and controls |
|
2 |
7137067 |
2 |
RNF144A |
A |
G |
exonic |
nonsynonymous SNV |
RNF144A:NM_001349181:exon3:c.A10G:p.T4A,RNF144A:NM_001349182:exon3:c.A10G:p.T4A,RNF144A:NM_001349183:exon3:c.A10G:p.T4A,RNF144A:NM_001349184:exon3:c.A10G:p.T4A,RNF144A:NM_001349185:exon3:c.A10G:p.T4A,RNF144A:NM_014746:exon3:c.A10G:p.T4A |
RS364891 |
Differential exon level expression
of RNF144A [probe 2468399] in peripheral blood mononuclear cells:Abnormal
Involuntary Movement Scale:Neuroblastoma (brain cancer):Gene expression of
[probe 20433 centered at chr2:7115837] in blood:Bipolar disorder:Gene expression
of RNF144A in normal prepouch ileum:Mitral annular calcium:Prostate cancer |
|
2 |
7154632 |
2 |
RNF144A |
T |
C |
exonic |
synonymous SNV |
RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T |
|
2 |
7164578 |
1 |
RNF144A |
A |
G |
exonic |
synonymous SNV |
RNF144A:NM_001349186:exon6:c.A339G:p.E113E,RNF144A:NM_001349181:exon7:c.A588G:p.E196E,RNF144A:NM_001349182:exon7:c.A588G:p.E196E,RNF144A:NM_001349183:exon7:c.A588G:p.E196E,RNF144A:NM_001349184:exon7:c.A588G:p.E196E,RNF144A:NM_001349185:exon7:c.A588G:p.E196E,RNF144A:NM_014746:exon7:c.A588G:p.E196E |
RS376219 |
HDL cholesterol:Triglycerides:Mitral
annular calcium:Birth weight |
|
2 |
9634856 |
1 |
ADAM17 |
A |
G |
exonic |
synonymous SNV |
ADAM17:NM_003183:exon15:c.T1824C:p.S608S |
RS1048610 |
Triglycerides:Triglycerides:Height:Gene
expression of IAH1 in normal prepouch ileum:College completion |
|
2 |
10045014 |
2 |
TAF1B |
C |
T |
exonic |
synonymous SNV |
TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y |
RS400917 |
Refractive error |
|
2 |
10045024 |
2 |
TAF1B |
G |
A |
exonic |
nonsynonymous SNV |
TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I |
|
2 |
10050947 |
1 |
TAF1B |
T |
C |
exonic |
synonymous SNV |
TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A |
RS1054561 |
HDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of TAF1B in
normal prepouch ileum |
|
2 |
10059770 |
1 |
TAF1B |
G |
T |
exonic |
nonsynonymous SNV |
TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D |
RS1820965 |
Differential exon level expression
of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Differential
exon level expression of TAF1B [probe 2469139] in brain cortex:Total
cholesterol change with statins:Gene expression of KLF11 in blood:Gene expression
of TAF1B in blood:Age at death with kuru exposure:Hypertension (early onset
hypertension):Adiponectin levels:Gene expression of TAF1B in normal prepouch
ileum:Birth weight:Allele-specific Expression Patterns in human glioblastoma
cell line U87MG |
|
2 |
10126330 |
1 |
GRHL1 |
G |
A |
exonic |
nonsynonymous SNV |
GRHL1:NM_198182:exon9:c.G1189A:p.V397I |
RS2303920 |
Arthritis including
non-Rheumatoid:Serum creatinine:Neuroblastoma (brain cancer):Diastolic blood
pressure (DBP):Bipolar disorder:Birth weight:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
2 |
10188649 |
1 |
KLF11 |
A |
T |
exonic |
synonymous SNV |
KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V |
|
2 |
10262920 |
1 |
RRM2 |
T |
G |
exonic |
nonsynonymous SNV |
RRM2:NM_001165931:exon1:c.T175G:p.S59A |
RS1130609 |
LDL cholesterol change with
statins:Total cholesterol change with statins:LDL cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Gene expression of C2orf48 in
normal prepouch ileum |
|
2 |
10712278 |
1 |
NOL10 |
C |
T |
exonic |
synonymous SNV |
NOL10:NM_001261392:exon20:c.G1908A:p.L636L,NOL10:NM_001261394:exon20:c.G1836A:p.L612L,NOL10:NM_024894:exon21:c.G1986A:p.L662L |
RS3732114 |
Triglycerides:Differential exon
level expression of NOL10 [probe 2540222] in peripheral blood mononuclear
cells:Differential exon level expression of NOL10 [probe 2540222] in brain
cortex:Gene expression of HPCAL1 in blood:Bipolar disorder |
|
2 |
10930903 |
2 |
PDIA6 |
T |
C |
exonic |
nonsynonymous SNV |
PDIA6:NM_005742:exon7:c.A641G:p.K214R,PDIA6:NM_001282705:exon8:c.A785G:p.K262R,PDIA6:NM_001282706:exon8:c.A656G:p.K219R,PDIA6:NM_001282707:exon8:c.A632G:p.K211R,PDIA6:NM_001282704:exon9:c.A797G:p.K266R |
RS4807 |
Rheumatoid arthritis:Body mass
index (BMI):Gene expression of PDIA6 in blood:Serum ratio of (bilirubin
(E,E)*)/(biliverdin) |
|
2 |
10933249 |
2 |
PDIA6 |
C |
T |
exonic |
synonymous SNV |
PDIA6:NM_005742:exon5:c.G426A:p.R142R,PDIA6:NM_001282705:exon6:c.G570A:p.R190R,PDIA6:NM_001282706:exon6:c.G441A:p.R147R,PDIA6:NM_001282707:exon6:c.G417A:p.R139R,PDIA6:NM_001282704:exon7:c.G582A:p.R194R |
RS4799 |
Differential splicing of PDIA6
[probeset 2540337] in lymphoblastoid cell lines:Bipolar disorder:Severe
diabetic retinopathy:Schizophrenia:Gene expression of PDIA6 in blood:Serum
ratio of (biliverdin)/(oleoylcarnitine):Variant Creutzfeldt-Jakob disease:Parkinson's
disease |
|
2 |
10942687 |
2 |
PDIA6 |
C |
T |
exonic |
synonymous SNV |
PDIA6:NM_005742:exon2:c.G99A:p.S33S,PDIA6:NM_001282705:exon3:c.G243A:p.S81S,PDIA6:NM_001282706:exon3:c.G114A:p.S38S,PDIA6:NM_001282707:exon3:c.G90A:p.S30S,PDIA6:NM_001282704:exon4:c.G255A:p.S85S |
RS4758 |
Differential splicing of PDIA6
[probeset 2540337] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Total
cholesterol |
|
2 |
11587794 |
1 |
E2F6 |
G |
A |
exonic |
nonsynonymous SNV |
E2F6:NM_001278278:exon5:c.C533T:p.T178I,E2F6:NM_198256:exon6:c.C758T:p.T253I,E2F6:NM_212540:exon6:c.C302T:p.T101I,E2F6:NM_001278275:exon7:c.C662T:p.T221I,E2F6:NM_001278276:exon7:c.C533T:p.T178I,E2F6:NM_001278277:exon8:c.C533T:p.T178I |
|
2 |
11702661 |
1 |
GREB1 |
A |
C |
exonic |
nonsynonymous SNV |
GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T |
RS10929757 |
Gene expression of GREB1 [probe
2469825] in brain cortex:Differential exon level expression of GREB1 [probe
2469866] in brain cortex:Premature ovarian failure:Abnormal Involuntary
Movement Scale:Total cholesterol:Serum creatinine:HDL cholesterol:Variant Creutzfeldt-Jakob
disease:Primary rhegmatogenous retinal detachment |
|
2 |
11738091 |
2 |
GREB1 |
T |
C |
exonic |
synonymous SNV |
GREB1:NM_014668:exon14:c.T2139C:p.H713H |
|
2 |
11752635 |
2 |
GREB1 |
T |
C |
exonic |
synonymous SNV |
GREB1:NM_014668:exon19:c.T3021C:p.I1007I |
|
2 |
15601441 |
1 |
NBAS |
C |
T |
exonic |
synonymous SNV |
NBAS:NM_015909:exon21:c.G2223A:p.L741L |
RS7590340 |
Neuroticism:Differential splicing
of NAG [probeset 2541373] in lymphoblastoid cell lines:Serum ratio of
(3-methylxanthine)/(mannitol):College completion:Transmission
distortion:Years of education:Parkinson's disease |
|
2 |
15607842 |
1 |
NBAS |
T |
C |
exonic |
nonsynonymous SNV |
NBAS:NM_015909:exon18:c.A1964G:p.K655R |
RS4668909 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:Differential exon level
expression of NAG [probe 2541373] in brain cortex:Premature ovarian
failure:Waist hip ratio:College completion:Years of education:Parkinson's
disease:Tetrology of fallot |
|
2 |
15614404 |
1 |
NBAS |
T |
C |
exonic |
synonymous SNV |
NBAS:NM_015909:exon15:c.A1386G:p.R462R |
RS13014906 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:College
completion:Parkinson's disease:Years of education |
|
2 |
15615910 |
1 |
NBAS |
A |
G |
exonic |
synonymous SNV |
NBAS:NM_015909:exon14:c.T1242C:p.S414S |
RS1990754 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:College completion:Years of
education:Parkinson's disease |
|
2 |
15735648 |
1 |
DDX1 |
T |
C |
exonic |
synonymous SNV |
DDX1:NM_004939:exon3:c.T103C:p.L35L |
RS2302929 |
Triglycerides change with
statins:Serum creatinine:Triglycerides |
|
2 |
15747393 |
2 |
DDX1 |
C |
T |
exonic |
synonymous SNV |
DDX1:NM_004939:exon13:c.C912T:p.N304N |
RS10929378 |
Serum creatinine:College completion |
|
2 |
17884495 |
1 |
SMC6 |
C |
T |
exonic |
nonsynonymous SNV |
SMC6:NM_024624:exon18:c.G2071A:p.A691T,SMC6:NM_001142286:exon19:c.G2071A:p.A691T |
RS1065381 |
Primary rhegmatogenous retinal
detachment:Maternal transmission distortion |
|
2 |
18736613 |
1 |
NT5C1B-RDH14;RDH14 |
A |
G |
exonic |
synonymous SNV |
RDH14:NM_020905:exon2:c.T855C:p.T285T,NT5C1B-RDH14:NM_001199103:exon9:c.T1797C:p.T599T |
|
2 |
20131079 |
1 |
WDR35 |
T |
C |
exonic |
nonsynonymous SNV |
WDR35:NM_020779:exon24:c.A2915G:p.E972G,WDR35:NM_001006657:exon25:c.A2948G:p.E983G |
RS1191778 |
Gene expression of TTC32 in
blood:Serum ratio of (4-vinylphenol sulfate)/(lathosterol):Gene expression of
WDR35 (ENSG00000118965) in dendritic cells treated with Mycobacterium
tuberculosis |
|
2 |
20205680 |
1 |
MATN3 |
C |
T |
exonic |
synonymous SNV |
MATN3:NM_002381:exon2:c.G615A:p.E205E |
|
2 |
20205848 |
1 |
MATN3 |
G |
A |
exonic |
synonymous SNV |
MATN3:NM_002381:exon2:c.C447T:p.A149A |
|
2 |
20403794 |
2 |
SDC1 |
A |
T |
exonic |
nonsynonymous SNV |
SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q |
|
2 |
20403949 |
2 |
SDC1 |
C |
T |
exonic |
synonymous SNV |
SDC1:NM_002997:exon3:c.G252A:p.E84E,SDC1:NM_001006946:exon4:c.G252A:p.E84E |
|
2 |
20823724 |
2 |
HS1BP3 |
T |
C |
exonic |
synonymous SNV |
HS1BP3:NM_022460:exon6:c.A852G:p.P284P |
|
2 |
20824559 |
2 |
HS1BP3 |
C |
T |
exonic |
synonymous SNV |
HS1BP3:NM_022460:exon5:c.G717A:p.E239E |
RS2305457 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:Triglycerides:Bipolar disorder |
|
2 |
20838318 |
2 |
HS1BP3 |
G |
A |
exonic |
synonymous SNV |
HS1BP3:NM_022460:exon4:c.C501T:p.F167F |
RS3796064 |
HDL cholesterol:Serum concentration
of thymol sulfate |
|
2 |
20870579 |
2 |
GDF7 |
G |
A |
exonic |
synonymous SNV |
GDF7:NM_182828:exon2:c.G747A:p.R249R |
|
2 |
21224925 |
1 |
APOB |
C |
T |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon29:c.G13369A:p.D4457N |
|
2 |
21225281 |
2 |
APOB |
C |
T |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon29:c.G13013A:p.S4338N |
RS1042034 |
HDL cholesterol:Triglycerides:LDL
cholesterol:Total cholesterol:HDL cholesterol:Serum creatinine:Chronic kidney
disease:Lp-PLA2 activity:Lp-PLA2 mass:Total cholesterol:LDL cholesterol:HDL
cholesterol:Triglycerides:Body mass index (BMI):Urinary albumin-to-creatinine
ratio:Comorbid depressive syndrome and alcohol dependence:Serum
Val/Serum-TG:Serum XS-VLDL-L:Serum Ile/Serum-TG:Serum ApoB/ApoA1:Total
cholesterol:Serum M-VLDL-C:LDL cholesterol:Serum M-VLDL-CE:Serum
IDL-C-eFR:Serum M-HDL-C/M-HDL-PL:Serum XS-VLDL-P:Serum S-VLDL-C:Serum
S-VLDL-L:Serum XS-VLDL-PL:Serum S-VLDL-FC:Triglycerides (males):Serum
S-VLDL-PL:Triglycerides (females):Triglycerides:VLDL cholesterol particle
diameter:Serum S-VLDL-TG:Acute lung injury following major trauma:Serum
XS-VLDL-TG:Serum Gp/Serum-TG:HDL cholesterol:Triglycerides (ln):Serum
S-VLDL-P:Serum Leu/Serum-TG:Serum Serum-TG/Glc:Triglycerides:Serum IDL-TG |
|
2 |
21232195 |
2 |
APOB |
G |
A |
exonic |
synonymous SNV |
APOB:NM_000384:exon26:c.C7545T:p.T2515T |
RS693 |
LDL
cholesterol:Triglycerides:Total cholesterol:APOB (apolipoprotein B):LDL
cholesterol:LDL cholesterol:LDL cholesterol in serum:HDL cholesterol:LDL
cholesterol:Triglycerides:LDL cholesterol (mmol/l):Triglycerides, mmol/l:HDL
cholesterol:Triglycerides:Total cholesterol:LDL cholesterol:Alpha-tocopherol
plasma levels:APOB (apolipoprotein B):LDL cholesterol:APOB (apolipoprotein
B):LDL cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol change
with statins:HDL cholesterol:Serum creatinine:Lp-PLA2 activity:LDL
cholesterol:HDL cholesterol:LDL cholesterol:Total
cholesterol:Triglycerides:Total cholesterol:LDL cholesterol:LDL
cholesterol:Ferritin:Triglycerides:Coronary artery disease (CAD):LDL
cholesterol:Serum IDL-L:Serum XS-VLDL-L:Serum IDL-C:Adiponectin levels:Serum
IDL-P:LDL cholesterol:LDL cholesterol response after 40mg daily simvastatin
treatment:Serum XS-VLDL-P:Serum XS-VLDL-PL:Serum L-LDL-P:Total
cholesterol:Serum L-LDL-PL:Total cholesterol:Serum IDL-FC:Serum
IDL-PL:Triglycerides:Serum IDL-TG |
|
2 |
21232803 |
2 |
APOB |
T |
C |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon26:c.A6937G:p.I2313V |
|
2 |
21232804 |
2 |
APOB |
G |
A |
exonic |
synonymous SNV |
APOB:NM_000384:exon26:c.C6936T:p.D2312D |
RS1041968 |
APOB (apolipoprotein B):LDL
cholesterol:APOB (apolipoprotein B):Serum L-LDL-P:Serum XS-VLDL-P:Serum
IDL-P:Serum IDL-PL:Serum XS-VLDL-PL:Serum IDL-FC:Total cholesterol:Serum
IDL-C:Serum IDL-TG:Serum L-LDL-PL:LDL cholesterol:Serum IDL-L:Serum XS-VLDL-L |
|
2 |
21235475 |
2 |
APOB |
T |
C |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon26:c.A4265G:p.Y1422C |
|
2 |
21263900 |
1 |
APOB |
G |
A |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon4:c.C293T:p.T98I |
RS1367117 |
Triglycerides:HDL cholesterol:LDL
cholesterol:APOB (apolipoprotein B):LDL cholesterol:LDL cholesterol
lipoprotein fraction concentration in fasting sample:LDL cholesterol
lipoprotein fraction concentration:Fasting blood glucose:LDL
cholesterol:Total cholesterol:Serum creatinine:HDL
cholesterol:Triglycerides:Coronary artery disease (CAD):Total cholesterol:LDL
cholesterol:LDL cholesterol:Triglycerides (ln):College completion:HDL
cholesterol:Total cholesterol:Years of education:LDL cholesterol:Coronary artery
disease (CAD) |
|
2 |
24108652 |
2 |
ATAD2B |
T |
C |
exonic |
nonsynonymous SNV |
ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R |
|
2 |
24300563 |
1 |
TP53I3 |
T |
C |
exonic |
nonsynonymous SNV |
TP53I3:NM_001206802:exon4:c.A688G:p.T230A |
|
2 |
24905927 |
2 |
NCOA1 |
G |
C |
exonic |
synonymous SNV |
NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T |
RS11125744 |
Cystatin C in
serum:Height:Parkinson's disease |
|
2 |
24974945 |
2 |
NCOA1 |
T |
G |
exonic |
synonymous SNV |
NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L |
RS11125763 |
Cystatin C in
serum:Triglycerides:Height:Body mass index (BMI):Mitral annular calcium |
|
2 |
25022598 |
1 |
CENPO |
A |
G |
exonic |
nonsynonymous SNV |
CENPO:NM_001199803:exon2:c.A83G:p.Q28R,CENPO:NM_001322101:exon3:c.A101G:p.Q34R,CENPO:NM_024322:exon3:c.A101G:p.Q34R |
RS1550116 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Triglycerides:Gene expression of ADCY3 [probe
2544484] in brain cortex:Serum creatinine:Gene expression of ADCY3 in
peripheral blood monocytes:HDL cholesterol:Height:Late onset Alzheimer's
disease:Comorbid depressive syndrome and alcohol dependence:Obesity with
early age of onset (age >2):Tetrology of fallot |
|
2 |
25965635 |
1 |
ASXL2 |
C |
T |
exonic |
nonsynonymous SNV |
ASXL2:NM_018263:exon12:c.G3571A:p.E1191K |
|
2 |
26203678 |
2 |
KIF3C |
T |
C |
exonic |
nonsynonymous SNV |
KIF3C:NM_002254:exon1:c.A1109G:p.Q370R |
|
2 |
26607992 |
2 |
SELENOI |
T |
C |
exonic |
unknown |
UNKNOWN |
RS934280 |
Triglycerides:Total cholesterol |
|
2 |
27303755 |
2 |
EMILIN1 |
A |
G |
exonic |
nonsynonymous SNV |
EMILIN1:NM_007046:exon3:c.A446G:p.Q149R |
|
2 |
27315252 |
1 |
KHK |
G |
A |
exonic |
nonsynonymous SNV |
KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I |
RS2304681 |
HDL cholesterol:Fasting blood
glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Gene expression of KHK in CD4+
lymphocytes:Gene expression of KHK///CGREF1 in blood:Gene expression of KHK
in blood:Bipolar disorder:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
2 |
27323385 |
1 |
CGREF1 |
C |
T |
exonic |
synonymous SNV |
CGREF1:NM_001301324:exon5:c.G312A:p.L104L |
RS1131375 |
Fasting blood glucose:HOMA-B:LDL
cholesterol:HDL cholesterol:Advanced age-related macular
degeneration:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
2 |
27424636 |
1 |
SLC5A6 |
G |
A |
exonic |
nonsynonymous SNV |
SLC5A6:NM_021095:exon14:c.C1442T:p.S481F |
RS1395 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Serum creatinine:Total
cholesterol:Triglycerides:Waist hip ratio:Atopy:Allergic rhinitis:Gene
expression of SLC5A6///C2orf28 in blood:Gene expression of C2orf28 in
blood:Gene expression of SLC5A6 in blood:Variant Creutzfeldt-Jakob
disease:Crohn's disease:Gene expression of SLC5A6 in normal prepouch
ileum:Serum urate:Gene expression of C2orf28 in normal prepouch ileum |
|
2 |
27428295 |
2 |
SLC5A6 |
A |
G |
exonic |
synonymous SNV |
SLC5A6:NM_021095:exon7:c.T657C:p.I219I |
|
2 |
27435250 |
2 |
ATRAID |
A |
G |
exonic |
nonsynonymous SNV |
ATRAID:NM_001170795:exon1:c.A14G:p.D5G,ATRAID:NM_080592:exon1:c.A179G:p.D60G |
|
2 |
27440785 |
2 |
CAD |
C |
T |
exonic |
synonymous SNV |
CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T |
|
2 |
27460968 |
1 |
CAD |
A |
G |
exonic |
synonymous SNV |
CAD:NM_001306079:exon29:c.A4584G:p.A1528A,CAD:NM_004341:exon30:c.A4773G:p.A1591A |
RS1141313 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Serum creatinine:Chronic kidney
disease:Autism:Total cholesterol:Triglycerides:Waist hip ratio |
|
2 |
27462076 |
1 |
CAD |
C |
T |
exonic |
synonymous SNV |
CAD:NM_001306079:exon31:c.C5040T:p.P1680P,CAD:NM_004341:exon32:c.C5229T:p.P1743P |
RS3739092 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Triglycerides:Waist hip ratio |
|
2 |
27550967 |
1 |
GTF3C2 |
A |
G |
exonic |
synonymous SNV |
GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P |
RS1049817 |
Triglycerides:Triglycerides:Fasting
blood glucose:LDL cholesterol change with statins:Total cholesterol change
with statins:Total cholesterol:Triglycerides change with statins:Serum
creatinine:Triglycerides:Total cholesterol:Height:Serum urate:Waist hip ratio:Coronary
artery disease (CAD):Advanced age-related macular degeneration (geographic
atrophy):Gene expression of SLC5A6 in normal prepouch ileum:Adiponectin
levels:Triglycerides:Serum urate:Gene expression of NRBP1 in normal prepouch
ileum |
|
2 |
27851918 |
1 |
GPN1 |
G |
A |
exonic |
nonsynonymous SNV |
GPN1:NM_007266:exon1:c.G35A:p.R12K |
RS3749147 |
Triglycerides:2 hour
glucose:Fasting blood glucose:HOMA-IR:Total cholesterol:Total cholesterol
change with statins:Triglycerides change with statins:Cystatin C in
serum:Serum creatinine:Total cholesterol:Triglycerides:Plasma protein-C
levels:Waist hip ratio:Waist circumference and Triglycerides:Serum
urate:Serum VLDL-D:Serum M-VLDL-P:Serum VLDL-TG:Serum M-VLDL-TG:Serum
L-VLDL-L:Serum S-VLDL-TG:Serum L-VLDL-P:Serum M-VLDL-FC:Serum
M-VLDL-PL:Adiponectin levels:Serum L-VLDL-TG:Serum M-VLDL-L:Plasma palmitoleic
acid:Serum urate |
|
2 |
27887034 |
2 |
SLC4A1AP |
C |
A |
exonic |
nonsynonymous SNV |
SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T |
RS9678851 |
Total cholesterol:LDL
cholesterol:Triglycerides:Systolic blood pressure (SBP):Gene expression of
ZNF512 in normal prepouch ileum:Gene expression of SLC4A1AP (ENSG00000163798)
in dendritic cells treated with Mycobacterium tuberculosis |
|
2 |
29001691 |
1 |
PPP1CB |
A |
G |
exonic |
synonymous SNV |
PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q |
RS1128416 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of WDR43 (ENSG00000163811) in
dendritic cells treated with Mycobacterium tuberculosis:College
completion:Gene expression of PPP1CB (ENSG00000213639) in dendritic
cells:Years of education |
|
2 |
29092679 |
1 |
TRMT61B |
T |
C |
exonic |
synonymous SNV |
TRMT61B:NM_017910:exon1:c.A465G:p.E155E |
RS4233729 |
HDL cholesterol:Fasting
insulin:HOMA-IR:Fasting blood glucose:Triglycerides:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Years of
education:College completion |
|
2 |
29092850 |
1 |
TRMT61B |
G |
T |
exonic |
synonymous SNV |
TRMT61B:NM_017910:exon1:c.C294A:p.S98S |
RS4666122 |
Gene expression of probe 228222_at
in lymphoblastoid cell lines:HDL cholesterol:Fasting insulin:HOMA-IR:Fasting
blood glucose:Body mass index (BMI):Urinary albumin-to-creatinine
ratio:Microalbuminuria:College completion:Years of education:Gene expression
of TRMT61B in normal prepouch ileum |
|
2 |
29129418 |
1 |
WDR43 |
A |
G |
exonic |
synonymous SNV |
WDR43:NM_015131:exon3:c.A456G:p.E152E |
RS11688605 |
Fasting insulin:HOMA-IR:Cystatin C
in serum:Gene expression of PPP1CB in peripheral blood
monocytes:Triglycerides:Waist hip ratio:Body mass index (BMI):Years of
education:Gene expression change of FAM179A (ENSG00000189350) in dendritic
cells after treatment with Mycobacterium tuberculosis:College completion:Gene
expression of FAM179A (ENSG00000189350) in dendritic cells |
|
2 |
29135468 |
1 |
WDR43 |
C |
G |
exonic |
synonymous SNV |
WDR43:NM_015131:exon4:c.C498G:p.G166G |
RS6715296 |
Triglycerides change with
statins:Birth weight |
|
2 |
29169612 |
1 |
WDR43 |
T |
C |
exonic |
synonymous SNV |
WDR43:NM_015131:exon18:c.T2001C:p.D667D |
RS3087649 |
Triglycerides change with
statins:Gene expression of TRMT61B in normal prepouch ileum:Gene expression
of WDR43 in normal prepouch ileum:Birth weight |
|
2 |
30381505 |
2 |
YPEL5 |
T |
C |
exonic |
synonymous SNV |
YPEL5:NM_016061:exon3:c.T162C:p.S54S,YPEL5:NM_001127399:exon4:c.T162C:p.S54S,YPEL5:NM_001127400:exon4:c.T162C:p.S54S,YPEL5:NM_001127401:exon5:c.T162C:p.S54S |
RS1137288 |
LDL cholesterol:Comorbid depressive
syndrome and alcohol dependence:Taste change in healthy volunteers in
response to topiramate treatment (Normal taste):Tetrology of fallot |
|
2 |
32855615 |
2 |
TTC27 |
A |
G |
exonic |
synonymous SNV |
TTC27:NM_017735:exon2:c.A114G:p.L38L |
|
2 |
32983480 |
1 |
TTC27 |
G |
A |
exonic |
nonsynonymous SNV |
TTC27:NM_001193509:exon13:c.G1424A:p.R475H,TTC27:NM_017735:exon13:c.G1574A:p.R525H |
RS2273664 |
PROP taste detection threshold |
|
2 |
32983526 |
1 |
TTC27 |
C |
T |
exonic |
synonymous SNV |
TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N |
RS2273665 |
Nonsyndromic cleft lip with or
without cleft palate:Urinary albumin-to-creatinine ratio:PROP taste detection
threshold:Diabetic retinopathy in Type 2 diabetes mellitus:Aortic valve
calcium |
|
2 |
36704144 |
2 |
CRIM1 |
C |
T |
exonic |
synonymous SNV |
CRIM1:NM_016441:exon6:c.C1104T:p.T368T |
RS848547 |
Triglycerides change with statins |
|
2 |
36810586 |
1 |
FEZ2 |
T |
C |
exonic |
synonymous SNV |
FEZ2:NM_001042548:exon3:c.A402G:p.T134T,FEZ2:NM_005102:exon3:c.A402G:p.T134T |
RS14291 |
Gene expression of FEZ2 in
Cerebellum:LDL cholesterol:Height:Body mass index (BMI):Adiponectin levels |
|
2 |
36825137 |
2 |
FEZ2 |
G |
A |
exonic |
nonsynonymous SNV |
FEZ2:NM_001042548:exon1:c.C149T:p.P50L,FEZ2:NM_005102:exon1:c.C149T:p.P50L |
|
2 |
37306343 |
2 |
HEATR5B |
G |
A |
exonic |
synonymous SNV |
HEATR5B:NM_019024:exon3:c.C258T:p.F86F |
|
2 |
37456032 |
2 |
CEBPZ |
C |
T |
exonic |
nonsynonymous SNV |
CEBPZ:NM_005760:exon2:c.G304A:p.V102I |
RS2098386 |
Body mass index (BMI):Gene
expression of EIF2AK2///CEBPZ///AC007390.5 in blood:Systolic blood pressure
(SBP) |
|
2 |
37458668 |
1 |
CEBPZ |
G |
A |
exonic |
nonsynonymous SNV |
CEBPZ:NM_005760:exon1:c.C43T:p.P15S |
|
2 |
37506939 |
1 |
PRKD3 |
A |
G |
exonic |
synonymous SNV |
PRKD3:NM_005813:exon7:c.T1122C:p.D374D |
RS3770761 |
Comorbid depressive syndrome and
alcohol dependence:Acute lung injury following major trauma |
|
2 |
37518045 |
1 |
PRKD3 |
G |
C |
exonic |
synonymous SNV |
PRKD3:NM_005813:exon3:c.C525G:p.L175L |
RS10177176 |
Total cholesterol:Methylation
levels at chr2:37425956-37426006 [hg18 coord, probe cg16029957] in Temporal
cortex:Gene expression of CEBPZ (ENSG00000115816) in dendritic cells treated
with Mycobacterium tuberculosis |
|
2 |
38916970 |
2 |
GALM |
A |
T |
exonic |
nonsynonymous SNV |
GALM:NM_138801:exon4:c.A568T:p.N190Y |
RS6741892 |
Brain serotonin transporter (5-HTT)
levels (in insula):Brain serotonin transporter (5-HTT) levels (in
thalamus):Brain serotonin transporter (5-HTT) levels (in dorsal cingulate
cortex) |
|
2 |
39008949 |
2 |
GEMIN6 |
G |
A |
exonic |
nonsynonymous SNV |
GEMIN6:NM_024775:exon3:c.G419A:p.G140D |
RS1056104 |
Lp-PLA2 activity:Gene expression of
SOS1 in peripheral blood monocytes:Gene expression of CRHBP in peripheral
blood monocytes:Serum ratio of (3-carboxy-4-methyl-5-propyl-2-furanpropanoate
(CMPF))/(alpha-ketoglutarate):Nicotine dependence (smoking):Salmonella-induced
pyroptosis:Coronary artery disease (CAD) |
|
2 |
39025555 |
2 |
DHX57 |
G |
A |
exonic |
synonymous SNV |
DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C |
RS1530853 |
Rheumatoid arthritis:HDL
cholesterol:Differential exon level expression of GALM [probe 2477960] in
peripheral blood mononuclear cells:Gene expression of GALM in
blood:Parkinson's disease |
|
2 |
39050359 |
1 |
DHX57 |
G |
A |
exonic |
nonsynonymous SNV |
DHX57:NM_001329963:exon17:c.C2761T:p.R921W,DHX57:NM_198963:exon17:c.C3067T:p.R1023W |
|
2 |
39082344 |
2 |
DHX57 |
T |
C |
exonic |
nonsynonymous SNV |
DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S |
RS7598922 |
Rheumatoid arthritis:Arthritis
including non-Rheumatoid:Longstanding arthritis:Schizophrenia:Cystatin C in
serum:Gene expression of GALM in blood:Gene expression of GEMIN6 in
blood:Serum ratio of (myristate (14:0))/(palmitate (16:0)):Parkinson's
disease |
|
2 |
39250339 |
1 |
SOS1 |
C |
T |
exonic |
synonymous SNV |
SOS1:NM_005633:exon10:c.G1230A:p.Q410Q |
|
2 |
39485723 |
1 |
MAP4K3 |
G |
A |
exonic |
nonsynonymous SNV |
MAP4K3:NM_001270425:exon29:c.C2251T:p.P751S,MAP4K3:NM_003618:exon30:c.C2314T:p.P772S |
|
2 |
39583446 |
2 |
MAP4K3 |
A |
G |
exonic |
synonymous SNV |
MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I |
RS8545 |
Serum creatinine:Gene expression of
MORN2 in peripheral blood monocytes:Microalbuminuria:Serum concentration of
serotonin (5HT):Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Bipolar disorder:Salmonella-induced pyroptosis |
|
2 |
42275819 |
1 |
PKDCC |
T |
C |
exonic |
synonymous SNV |
PKDCC:NM_138370:exon1:c.T480C:p.G160G |
|
2 |
42510018 |
2 |
EML4 |
A |
G |
exonic |
nonsynonymous SNV |
EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E |
|
2 |
42515388 |
2 |
EML4 |
A |
G |
exonic |
nonsynonymous SNV |
EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V |
RS10202624 |
LDL
cholesterol:Triglycerides:Cystatin C in serum:Asthma:Waist hip ratio:Serum
ratio of (3-indoxyl sulfate)/(valerate):Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Aortic valve calcium |
|
2 |
42515437 |
1 |
EML4 |
A |
G |
exonic |
nonsynonymous SNV |
EML4:NM_001145076:exon10:c.A1019G:p.K340R,EML4:NM_019063:exon11:c.A1193G:p.K398R |
|
2 |
42990522 |
2 |
OXER1 |
C |
T |
exonic |
synonymous SNV |
OXER1:NM_148962:exon1:c.G798A:p.A266A |
RS12712859 |
LDL cholesterol:HDL cholesterol
change with statins:Total cholesterol:LDL cholesterol:College
completion:Adiponectin levels |
|
2 |
43015704 |
1 |
HAAO |
T |
A |
exonic |
nonsynonymous SNV |
HAAO:NM_012205:exon2:c.A124T:p.T42S |
RS3816182 |
Fasting blood
glucose:HOMA-B:Triglycerides:Gene expression change of OXER1
(ENSG00000162881) in dendritic cells after treatment with Mycobacterium
tuberculosis:College completion:Gene expression of OXER1 (ENSG00000162881) in
dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels |
|
2 |
43015719 |
1 |
HAAO |
T |
C |
exonic |
nonsynonymous SNV |
HAAO:NM_012205:exon2:c.A109G:p.I37V |
RS3816183 |
LDL cholesterol:Schizophrenia:Gene
expression of OXER1 [probe 2550325] in peripheral blood mononuclear
cells:Fasting blood glucose:HDL cholesterol change with statins:Lp-PLA2
activity:Methylation levels at chr2:42873623-42873673 [hg18 coord, probe
cg01561916] in Caudal pons:Methylation levels at chr2:42873623-42873673 [hg18
coord, probe cg01561916] in Cerebellum:Methylation levels at
chr2:42873068-42873118 [hg18 coord, probe cg20289949] in Caudal
pons:Triglycerides:Body mass index (BMI):Gene expression of HAAO [transcript
NM_012205, probe A_23_P28697] in liver:Gene expression of [probe 870528
centered at chr2:42876801] in blood:Bipolar disorder in alcoholics:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Maternal transmission
distortion:Gene expression of HAAO in normal prepouch ileum:Gene expression
of OXER1 in normal prepouch ileum |
|
2 |
43458176 |
1 |
THADA |
C |
T |
exonic |
nonsynonymous SNV |
THADA:NM_001083953:exon38:c.G5773A:p.E1925K,THADA:NM_001345923:exon38:c.G5770A:p.E1924K,THADA:NM_001345924:exon38:c.G5650A:p.E1884K,THADA:NM_022065:exon38:c.G5773A:p.E1925K,THADA:NM_001345925:exon39:c.G5773A:p.E1925K |
|
2 |
43625184 |
1 |
THADA |
T |
A |
exonic |
nonsynonymous SNV |
THADA:NM_001083953:exon29:c.A4153T:p.T1385S,THADA:NM_001345923:exon29:c.A4150T:p.T1384S,THADA:NM_001345924:exon29:c.A4030T:p.T1344S,THADA:NM_022065:exon29:c.A4153T:p.T1385S,THADA:NM_001345925:exon30:c.A4153T:p.T1385S |
|
2 |
44004010 |
1 |
DYNC2LI1 |
T |
C |
exonic |
nonsynonymous SNV |
DYNC2LI1:NM_001193464:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348912:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348913:exon2:c.T98C:p.F33S,DYNC2LI1:NM_015522:exon2:c.T98C:p.F33S,DYNC2LI1:NM_016008:exon2:c.T98C:p.F33S |
RS2288709 |
Prostate cancer
aggressiveness:Partial epilepsy:Total cholesterol:LDL cholesterol:Waist hip
ratio:Type 2 diabetes:College completion |
|
2 |
44028013 |
1 |
DYNC2LI1 |
A |
T |
exonic |
nonsynonymous SNV |
DYNC2LI1:NM_001193464:exon9:c.A691T:p.I231L,DYNC2LI1:NM_001348912:exon9:c.A688T:p.I230L,DYNC2LI1:NM_001348913:exon9:c.A691T:p.I231L,DYNC2LI1:NM_016008:exon9:c.A688T:p.I230L |
RS11556157 |
LDL cholesterol:Triglycerides:Total
cholesterol:LDL cholesterol:Waist hip ratio:College completion:Years of
education |
|
2 |
44040401 |
1 |
ABCG5 |
G |
C |
exonic |
nonsynonymous SNV |
ABCG5:NM_022436:exon13:c.C1810G:p.Q604E |
RS6720173 |
Gallstone disease:Abnormal
Involuntary Movement Scale:Total cholesterol:LDL cholesterol:College
completion |
|
2 |
44209477 |
2 |
LRPPRC |
C |
T |
exonic |
synonymous SNV |
LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q |
RS6741066 |
Gene expression of LRPPRC [probe
211971_s_at] in lymphoblastoid cell lines:Total cholesterol:LDL
cholesterol:Waist hip ratio:Diastolic blood pressure (DBP):Systolic blood
pressure (SBP) |
|
2 |
46607644 |
1 |
EPAS1 |
C |
T |
exonic |
synonymous SNV |
EPAS1:NM_001430:exon12:c.C1833T:p.A611A |
|
2 |
46607719 |
1 |
EPAS1 |
T |
C |
exonic |
synonymous SNV |
EPAS1:NM_001430:exon12:c.T1908C:p.N636N |
|
2 |
47177617 |
1 |
TTC7A |
C |
T |
exonic |
synonymous SNV |
TTC7A:NM_001288951:exon2:c.C300T:p.S100S,TTC7A:NM_020458:exon2:c.C300T:p.S100S,TTC7A:NM_001288953:exon3:c.C198T:p.S66S |
|
2 |
47601106 |
2 |
EPCAM |
T |
C |
exonic |
nonsynonymous SNV |
EPCAM:NM_002354:exon3:c.T344C:p.M115T |
RS1126497 |
Asthma:Gene expression of KCNK12 in
blood:Serum ratio of (cysteine-glutathione disulfide)/(pyridoxate):Infant
head circumference:Birth weight |
|
2 |
48010488 |
1 |
MSH6 |
G |
A |
exonic |
nonsynonymous SNV |
MSH6:NM_000179:exon1:c.G116A:p.G39E,MSH6:NM_001281492:exon1:c.G116A:p.G39E |
|
2 |
48023115 |
1 |
MSH6 |
T |
C |
exonic |
synonymous SNV |
MSH6:NM_000179:exon3:c.T540C:p.D180D |
RS1800935 |
Spine bone mineral density
(BMD):Schizophrenia:Gene expression of MSH6 in peripheral blood
monocytes:Serum ratio of (caprylate (8:0))/(pelargonate (9:0)):Comorbid
depressive syndrome and alcohol dependence:Late rectal bleeding following
radiation therapy for prostate cancer |
|
2 |
48025764 |
1 |
MSH6 |
C |
T |
exonic |
synonymous SNV |
MSH6:NM_001281492:exon2:c.C252T:p.Y84Y,MSH6:NM_000179:exon4:c.C642T:p.Y214Y |
RS1800937 |
Fasting blood glucose:LDL
cholesterol change with statins:Total cholesterol change with statins:Obesity
(body mass index (BMI)):Body mass index (BMI) |
|
2 |
48602252 |
1 |
FOXN2 |
C |
T |
exonic |
synonymous SNV |
FOXN2:NM_002158:exon7:c.C966T:p.S322S |
|
2 |
54035508 |
1 |
ERLEC1 |
G |
C |
exonic |
nonsynonymous SNV |
ERLEC1:NM_001127397:exon9:c.G952C:p.V318L,ERLEC1:NM_015701:exon9:c.G952C:p.V318L |
RS2287345 |
HDL cholesterol change with
statins:HDL cholesterol |
|
2 |
54127041 |
1 |
PSME4 |
C |
T |
exonic |
synonymous SNV |
PSME4:NM_014614:exon29:c.G3399A:p.Q1133Q |
RS805423 |
HDL cholesterol change with
statins:Triglycerides change with statins:HDL cholesterol:Obesity with early
age of onset (age >2) |
|
2 |
54844790 |
2 |
SPTBN1 |
C |
T |
exonic |
synonymous SNV |
SPTBN1:NM_178313:exon5:c.C573T:p.D191D,SPTBN1:NM_003128:exon6:c.C612T:p.D204D |
RS2229506 |
Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Body mass index (BMI):PROP taste detection
threshold |
|
2 |
55404794 |
2 |
CLHC1 |
G |
A |
exonic |
nonsynonymous SNV |
CLHC1:NM_001135598:exon10:c.C1142T:p.A381V,CLHC1:NM_152385:exon12:c.C1508T:p.A503V |
RS14026 |
Eye color:Stabilized warfarin
dose:Rheumatoid arthritis:Partial epilepsy:Autism without verbal
ability:Serum ratio of (homocitrulline)/(ornithine) |
|
2 |
55407754 |
2 |
CLHC1 |
C |
T |
exonic |
nonsynonymous SNV |
CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I |
RS6716066 |
Triglycerides:Diastolic blood
pressure (DBP) |
|
2 |
55470115 |
2 |
MTIF2 |
C |
T |
exonic |
nonsynonymous SNV |
MTIF2:NM_001321004:exon12:c.G1666A:p.V556I,MTIF2:NM_001321005:exon12:c.G937A:p.V313I,MTIF2:NM_001321001:exon13:c.G1666A:p.V556I,MTIF2:NM_001321002:exon13:c.G1666A:p.V556I,MTIF2:NM_002453:exon13:c.G1666A:p.V556I,MTIF2:NM_001005369:exon14:c.G1666A:p.V556I,MTIF2:NM_001321003:exon14:c.G1666A:p.V556I |
RS11357 |
Triglycerides:Total
cholesterol:Advanced age-related macular degeneration:Refractive
error:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
2 |
55476591 |
1 |
MTIF2 |
G |
A |
exonic |
synonymous SNV |
MTIF2:NM_001321004:exon8:c.C921T:p.Y307Y,MTIF2:NM_001321005:exon8:c.C192T:p.Y64Y,MTIF2:NM_001321001:exon9:c.C921T:p.Y307Y,MTIF2:NM_001321002:exon9:c.C921T:p.Y307Y,MTIF2:NM_002453:exon9:c.C921T:p.Y307Y,MTIF2:NM_001005369:exon10:c.C921T:p.Y307Y,MTIF2:NM_001321003:exon10:c.C921T:p.Y307Y |
RS2576709 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio |
|
2 |
55490819 |
2 |
MTIF2 |
G |
T |
exonic |
nonsynonymous SNV |
MTIF2:NM_001321004:exon3:c.C176A:p.T59N,MTIF2:NM_001321001:exon4:c.C176A:p.T59N,MTIF2:NM_001321002:exon4:c.C176A:p.T59N,MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N,MTIF2:NM_001321003:exon5:c.C176A:p.T59N |
RS1056445 |
Gene expression of C2orf63 [probe
228316_at] in lymphoblastoid cell lines:Psoriasis:Hip bone mineral density
(BMD):Differential exon level expression of C2orf63 [probe 2553701] in
peripheral blood mononuclear cells:Differential exon level expression of C2orf63
[probe 2553702] in peripheral blood mononuclear cells:Differential exon level
expression of C2orf63 [probe 2553703] in peripheral blood mononuclear
cells:Gene expression of C2orf63 [probe 2553682] in peripheral blood
mononuclear cells:Gene expression of C2orf63 in CD4+ lymphocytes:Gene
expression of MTIF2 [transcript NM_002453, probe A_23_P40072] in liver:Gene
expression of C2orf63 in blood:Serum ratio of (5-dodecenoate
(12:1n7))/(acetylcarnitine):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of C2orf63 in normal prepouch
ileum:Advanced age-related macular degeneration |
|
2 |
55771161 |
2 |
CFAP36 |
A |
G |
exonic |
nonsynonymous SNV |
CFAP36:NM_080667:exon8:c.A728G:p.D243G,CFAP36:NM_001282761:exon9:c.A803G:p.D268G |
RS1045910 |
HDL cholesterol change with
statins:HDL cholesterol change with statins:Total cholesterol:Triglycerides
change with statins:Height:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Adiponectin levels:Parkinson's disease |
|
2 |
55805440 |
2 |
PPP4R3B |
T |
C |
exonic |
nonsynonymous SNV |
PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V |
|
2 |
55883317 |
2 |
PNPT1 |
G |
T |
exonic |
synonymous SNV |
PNPT1:NM_033109:exon17:c.C1390A:p.R464R |
RS2627765 |
HDL cholesterol:Total
cholesterol:LDL cholesterol:Serum creatinine:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol
dependence |
|
2 |
55912120 |
2 |
PNPT1 |
T |
C |
exonic |
nonsynonymous SNV |
PNPT1:NM_033109:exon4:c.A361G:p.I121V |
RS782572 |
HDL cholesterol:HDL
cholesterol:Total cholesterol:LDL cholesterol:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP) |
|
2 |
58316814 |
1 |
VRK2 |
A |
G |
exonic |
nonsynonymous SNV |
VRK2:NM_001288839:exon6:c.A145G:p.I49V,VRK2:NM_001130480:exon7:c.A499G:p.I167V,VRK2:NM_001130481:exon7:c.A499G:p.I167V,VRK2:NM_001130482:exon7:c.A430G:p.I144V,VRK2:NM_001130483:exon7:c.A499G:p.I167V,VRK2:NM_006296:exon7:c.A499G:p.I167V,VRK2:NM_001288836:exon8:c.A145G:p.I49V,VRK2:NM_001288838:exon9:c.A499G:p.I167V,VRK2:NM_001288837:exon10:c.A499G:p.I167V |
RS1051061 |
Years of education |
|
2 |
58388696 |
1 |
FANCL |
A |
G |
exonic |
synonymous SNV |
FANCL:NM_001114636:exon12:c.T996C:p.S332S,FANCL:NM_018062:exon12:c.T981C:p.S327S |
RS848291 |
Irritible bowel syndrome:Bipolar
disorder:Major depressive disorder:Fasting blood glucose:HOMA-IR:Bipolar
disorder |
|
2 |
61304271 |
1 |
KIAA1841 |
A |
G |
exonic |
synonymous SNV |
KIAA1841:NM_001330432:exon5:c.A210G:p.K70K,KIAA1841:NM_001129993:exon6:c.A648G:p.K216K,KIAA1841:NM_001330433:exon6:c.A648G:p.K216K,KIAA1841:NM_001330434:exon6:c.A648G:p.K216K,KIAA1841:NM_001330435:exon6:c.A648G:p.K216K,KIAA1841:NM_001330436:exon6:c.A648G:p.K216K,KIAA1841:NM_032506:exon6:c.A648G:p.K216K |
RS1729659 |
Gene expression of LOC339804 in
CHB-JPT lymphoblastoid cell lines:Gene expression of LOC339803 [probe
227941_at] in lymphoblastoid cell lines:Schizophrenia:Total cholesterol:Gene
expression of AHSA2 in peripheral blood monocytes:Gene expression of AHSA2 in
blood |
|
2 |
61522123 |
2 |
USP34 |
T |
C |
exonic |
synonymous SNV |
USP34:NM_014709:exon32:c.A4422G:p.E1474E |
RS13014347 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Serum creatinine:HDL
cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
2 |
61575308 |
2 |
USP34 |
A |
G |
exonic |
nonsynonymous SNV |
USP34:NM_014709:exon15:c.T1982C:p.M661T |
RS6722430 |
HDL cholesterol:LDL
cholesterol:Comorbid depressive syndrome and alcohol dependence |
|
2 |
62066927 |
2 |
FAM161A |
A |
G |
exonic |
synonymous SNV |
FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C |
RS4672457 |
LDL cholesterol change with
statins:Height:Adiponectin levels |
|
2 |
64126623 |
1 |
VPS54 |
T |
A |
exonic |
synonymous SNV |
VPS54:NM_001005739:exon21:c.A2682T:p.P894P,VPS54:NM_016516:exon21:c.A2718T:p.P906P |
|
2 |
65245365 |
1 |
SLC1A4 |
G |
A |
exonic |
nonsynonymous SNV |
SLC1A4:NM_001193493:exon5:c.G301A:p.V101I,SLC1A4:NM_001348406:exon6:c.G535A:p.V179I,SLC1A4:NM_001348407:exon6:c.G535A:p.V179I,SLC1A4:NM_003038:exon6:c.G1195A:p.V399I |
RS759458 |
Eye color:Major depressive
disorder:HDL cholesterol:Triglycerides:Neuroblastoma (brain cancer):Bipolar
disorder in alcoholics:Serum ratio of (hydroquinone sulfate)/(p-cresol
sulfate):Serum concentration of 1-methylxanthine:Tetrology of fallot:College
completion |
|
2 |
65540905 |
1 |
SPRED2 |
C |
G |
exonic |
synonymous SNV |
SPRED2:NM_001128210:exon6:c.G978C:p.A326A,SPRED2:NM_181784:exon6:c.G987C:p.A329A |
RS8827 |
Rheumatoid arthritis |
|
2 |
67630980 |
2 |
ETAA1 |
G |
A |
exonic |
nonsynonymous SNV |
ETAA1:NM_019002:exon5:c.G1166A:p.S389N |
RS3770657 |
Hip bone mineral density
(BMD):Major depressive disorder:Total cholesterol:Serum ratio of (levulinate
(4-oxovalerate))/(tetradecanedioate):Serum ratio of (2-tetradecenoyl
carnitine)/(homocitrulline):Maternal transmission distortion:Transmission
distortion |
|
2 |
67632125 |
2 |
ETAA1 |
C |
T |
exonic |
nonsynonymous SNV |
ETAA1:NM_019002:exon5:c.C2311T:p.P771S |
RS3770655 |
Hip bone mineral density
(BMD):Simpson-Angus Scale:Total cholesterol:Serum ratio of (2-tetradecenoyl
carnitine)/(homocitrulline) |
|
2 |
68385097 |
2 |
PNO1 |
A |
G |
exonic |
nonsynonymous SNV |
PNO1:NM_001329916:exon1:c.A31G:p.R11G,PNO1:NM_001329917:exon1:c.A31G:p.R11G,PNO1:NM_020143:exon1:c.A31G:p.R11G |
RS2044693 |
Gene expression of probe 1565811_at
in lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Systolic blood pressure
(SBP) |
|
2 |
68415767 |
1 |
PPP3R1 |
G |
A |
exonic |
synonymous SNV |
PPP3R1:NM_000945:exon3:c.C99T:p.D33D |
RS687 |
HDL cholesterol:Total
cholesterol:LDL cholesterol:Height:Microalbuminuria:Comorbid depressive
syndrome and alcohol dependence:Aortic valve calcium:Birth weight:College
completion |
|
2 |
69659126 |
2 |
NFU1 |
A |
T |
exonic |
startloss |
NFU1:NM_001002755:exon2:c.T74A:p.M25K,NFU1:NM_015700:exon2:c.T2A:p.M1? |
RS4453725 |
Fasting blood glucose:Methylation
levels at chr2:69468399-69468449 [hg18 coord, probe cg25195673] in Temporal
cortex:Advanced age-related macular degeneration:Obesity with early age of
onset (age >2):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels |
|
2 |
69741854 |
2 |
AAK1 |
T |
G |
exonic |
nonsynonymous SNV |
AAK1:NM_014911:exon13:c.A1525C:p.K509Q |
|
2 |
70524577 |
2 |
FAM136A |
G |
A |
exonic |
synonymous SNV |
FAM136A:NM_001329752:exon3:c.C582T:p.N194N,FAM136A:NM_001329753:exon3:c.C516T:p.N172N,FAM136A:NM_001329755:exon3:c.C168T:p.N56N,FAM136A:NM_032822:exon3:c.C261T:p.N87N,FAM136A:NM_001329757:exon4:c.C168T:p.N56N,FAM136A:NM_001329758:exon4:c.C168T:p.N56N |
|
2 |
71360144 |
2 |
MPHOSPH10 |
A |
C |
exonic |
nonsynonymous SNV |
MPHOSPH10:NM_005791:exon2:c.A206C:p.E69A |
RS10199088 |
Rheumatoid arthritis:Gene
expression of NAGK in peripheral blood monocytes:Years of education:College
completion |
|
2 |
71360625 |
2 |
MPHOSPH10 |
G |
T |
exonic |
nonsynonymous SNV |
MPHOSPH10:NM_005791:exon2:c.G687T:p.E229D |
RS1813160 |
Differential exon level expression
of MPHOSPH10 [probe 2488086] in brain cortex:Premature ovarian
failure:Rheumatoid arthritis:HDL cholesterol:Gene expression of [probe
3450326 centered at chr2:71209246] in blood:Years of education:College
completion:Gene expression of MCEE (ENSG00000124370) in dendritic
cells:Primary rhegmatogenous retinal detachment:Gene expression of MPHOSPH10
(ENSG00000124383) in dendritic cells |
|
2 |
71365676 |
2 |
MPHOSPH10 |
G |
A |
exonic |
synonymous SNV |
MPHOSPH10:NM_005791:exon5:c.G1155A:p.Q385Q |
|
2 |
71654175 |
1 |
ZNF638 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF638:NM_001014972:exon24:c.G5176A:p.V1726M,ZNF638:NM_001252612:exon24:c.G5176A:p.V1726M,ZNF638:NM_001252613:exon24:c.G5176A:p.V1726M,ZNF638:NM_014497:exon24:c.G5176A:p.V1726M |
RS1804020 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (broad definition):2 hour
glucose:Fasting blood glucose:Total cholesterol:Height:Urinary
albumin-to-creatinine ratio:Bipolar disorder:College completion |
|
2 |
71654450 |
1 |
ZNF638 |
A |
G |
exonic |
synonymous SNV |
ZNF638:NM_001014972:exon24:c.A5451G:p.K1817K,ZNF638:NM_001252612:exon24:c.A5451G:p.K1817K,ZNF638:NM_001252613:exon24:c.A5451G:p.K1817K,ZNF638:NM_014497:exon24:c.A5451G:p.K1817K |
|
2 |
71658541 |
1 |
ZNF638 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF638:NM_001014972:exon26:c.C5735T:p.A1912V,ZNF638:NM_001252612:exon26:c.C5735T:p.A1912V,ZNF638:NM_001252613:exon26:c.C5735T:p.A1912V,ZNF638:NM_014497:exon26:c.C5735T:p.A1912V |
RS11542286 |
Sporadic Creutzfeldt-Jakob
disease:Resistance to kuru in aged women despite likely exposure:Hypertension
(early onset hypertension) |
|
2 |
73478461 |
1 |
CCT7 |
A |
T |
exonic |
synonymous SNV |
CCT7:NM_001009570:exon6:c.A699T:p.A233A,CCT7:NM_001166284:exon9:c.A1050T:p.A350A,CCT7:NM_006429:exon11:c.A1311T:p.A437A,CCT7:NM_001166285:exon12:c.A1179T:p.A393A |
RS7851 |
Infant head circumference |
|
2 |
73491514 |
1 |
FBXO41 |
C |
T |
exonic |
synonymous SNV |
FBXO41:NM_001080410:exon5:c.G1698A:p.T566T |
|
2 |
73679280 |
1 |
ALMS1 |
A |
G |
exonic |
nonsynonymous SNV |
ALMS1:NM_015120:exon8:c.A5623G:p.I1875V |
RS6546838 |
Rheumatoid arthritis:Fasting blood
glucose:Cystatin C in serum:Serum creatinine:Height:Waist hip
ratio:Microalbuminuria:Gene expression of ALMS1 in blood:Gene expression of
[probe 6560398 centered at chr2:73781171] in blood:Serum ratio of
(creatinine)/(N-acetylornithine):Diastolic blood pressure (DBP):N-ACu
concentration |
|
2 |
73828538 |
1 |
ALMS1 |
G |
A |
exonic |
nonsynonymous SNV |
ALMS1:NM_015120:exon19:c.G12086A:p.R4029K |
RS1052161 |
Irritible bowel syndrome:Gene
expression of TPRKB [probe ILMN_16838] in osteoblasts:Cystatin C in
serum:Serum creatinine:Lp-PLA2 mass:Gene expression of TPRKB in peripheral
blood monocytes:Gene expression of ALMS1 in peripheral blood
monocytes:Height:Gene expression of [probe 6560398 centered at chr2:73781171]
in blood:Gene expression of ALMS1 in blood:Serum ratio of
(myo-inositol)/(N-acetylornithine):Serum concentration of
N-acetylornithine:N-ACu concentration:Variant Creutzfeldt-Jakob
disease:Coronary artery disease (CAD) |
|
2 |
73829372 |
1 |
ALMS1 |
C |
T |
exonic |
synonymous SNV |
ALMS1:NM_015120:exon20:c.C12172T:p.L4058L |
RS1052162 |
Fasting blood glucose:Cystatin C in
serum:Serum creatinine:Gene expression of TPRKB in peripheral blood
monocytes:Gene expression of ALMS1 in peripheral blood monocytes:Height:Waist
hip ratio:Microalbuminuria:Carnitine:Hypoxanthine:Serum ratio of (myo-inositol)/(N-acetylornithine):Diastolic
blood pressure (DBP):N-ACu concentration:Salmonella-induced pyroptosis |
|
2 |
73868328 |
1 |
NAT8 |
A |
G |
exonic |
nonsynonymous SNV |
NAT8:NM_003960:exon2:c.T428C:p.F143S |
RS13538 |
Fasting blood glucose:Cystatin C
in serum:Serum creatinine:Serum cystatin c estimated glomerular filtration
rate (eGFR):Serum creatinine estimated glomerular filtration rate
(eGFR):Chronic kidney disease:Serum creatinine estimated glomerular
filtration rate (eGFR) (with hypertension):Serum creatinine estimated
glomerular filtration rate (eGFR) (no hypertension):Serum creatinine
estimated glomerular filtration rate (eGFR) (no diabetes):Waist hip
ratio:Microalbuminuria:Serum concentration of N-acetylornithine:N-ACu
concentration:Chronic kidney disease (severe):Serum creatinine estimated
glomerular filtration rate (eGFR):Gene expression of ALMS1 (probeID
ILMN_1709474) in cerebellum in Alzheimer's disease cases:Plasma beta-trace
protein levels:Serum creatinine estimated glomerular filtration rate (eGFR)
without hypertension:Serum creatinine estimated glomerular filtration rate
(eGFR) (males):Serum cystatin c estimated glomerular filtration rate
(eGFR):Serum creatinine estimated glomerular filtration rate (eGFR) age
<65:miR-933 miRNA expression in lymphoblastoid cell lines :Serum
creatinine estimated glomerular filtration rate (eGFR) with
hypertension:Serum creatinine estimated glomerular filtration rate (eGFR)
(females):Plasma Beta-2 microglobulin levels:Serum creatinine estimated
glomerular filtration rate (eGFR) without diabetes:Gene expression of ALMS1
(probeID ILMN_1709474) in cerebellum in Alzheimer's disease cases and
controls:Serum creatinine estimated glomerular filtration rate (eGFR) age >65 |
|
2 |
73957124 |
1 |
TPRKB |
A |
G |
exonic |
synonymous SNV |
TPRKB:NM_001330389:exon5:c.T474C:p.I158I,TPRKB:NM_001330391:exon5:c.T375C:p.I125I,TPRKB:NM_001330392:exon5:c.T375C:p.I125I,TPRKB:NM_016058:exon5:c.T474C:p.I158I,TPRKB:NM_001330386:exon6:c.T591C:p.I197I,TPRKB:NM_001330387:exon6:c.T591C:p.I197I,TPRKB:NM_001330388:exon6:c.T474C:p.I158I,TPRKB:NM_001330390:exon6:c.T420C:p.I140I |
RS7210 |
Gene expression of TPRKB [probe
ILMN_16838] in osteoblasts:Alzheimer's disease:Serum creatinine:Chronic
kidney disease:Cystatin C in serum:Serum concentration of
N-acetylornithine:N-ACu concentration:Variant Creutzfeldt-Jakob disease |
|
2 |
74007136 |
1 |
DUSP11 |
T |
C |
exonic |
nonsynonymous SNV |
DUSP11:NM_003584:exon1:c.A107G:p.D36G |
RS2272051 |
Gene expression of TPRKB [probe
ILMN_16838] in osteoblasts:Alzheimer's disease:Cystatin C in serum:Chronic
kidney disease:Serum creatinine:Gene expression of TPRKB [probe ILMN_16838]
in osteoblasts treated with PGE2:Serum dehydroepiandrosterone sulphate (DHEAS):Gene
expression of [probe 6560398 centered at chr2:73781171] in blood:Gene
expression of DGUOK in blood:Serum concentration of N-acetylornithine:N-ACu
concentration:Age at death with kuru exposure:Variant Creutzfeldt-Jakob
disease |
|
2 |
74154041 |
1 |
DGUOK |
G |
T |
exonic |
nonsynonymous SNV |
DGUOK:NM_001318859:exon1:c.G4T:p.A2S,DGUOK:NM_080916:exon1:c.G4T:p.A2S,DGUOK:NM_080918:exon1:c.G4T:p.A2S |
|
2 |
74720157 |
1 |
TTC31 |
C |
T |
exonic |
stopgain |
TTC31:NM_022492:exon13:c.C1372T:p.R458X |
|
2 |
74725144 |
2 |
LBX2 |
T |
C |
exonic |
synonymous SNV |
LBX2:NM_001009812:exon2:c.A495G:p.E165E,LBX2:NM_001282430:exon2:c.A507G:p.E169E |
RS6546908 |
Body mass index (BMI):Aortic valve
calcium |
|
2 |
75099477 |
2 |
HK2 |
A |
T |
exonic |
nonsynonymous SNV |
HK2:NM_000189:exon4:c.A426T:p.Q142H |
RS2229621 |
Parkinson's disease |
|
2 |
75101454 |
2 |
HK2 |
T |
C |
exonic |
synonymous SNV |
HK2:NM_000189:exon7:c.T753C:p.D251D |
RS2229622 |
Cystatin C in serum |
|
2 |
75113789 |
2 |
HK2 |
C |
G |
exonic |
synonymous SNV |
HK2:NM_000189:exon15:c.C2208G:p.P736P |
|
2 |
75115108 |
2 |
HK2 |
A |
G |
exonic |
synonymous SNV |
HK2:NM_000189:exon16:c.A2298G:p.L766L |
RS10194657 |
Comorbid depressive syndrome and
alcohol dependence |
|
2 |
75185856 |
2 |
POLE4 |
G |
T |
exonic |
nonsynonymous SNV |
POLE4:NM_019896:exon1:c.G50T:p.G17V |
|
2 |
75907351 |
1 |
GCFC2 |
T |
C |
exonic |
nonsynonymous SNV |
GCFC2:NM_001201334:exon12:c.A1273G:p.T425A,GCFC2:NM_003203:exon12:c.A1780G:p.T594A |
RS6722682 |
Hip bone mineral density
(BMD):Rheumatoid arthritis:Arthritis including non-Rheumatoid:Total
cholesterol change with statins |
|
2 |
75915035 |
1 |
GCFC2 |
C |
T |
exonic |
synonymous SNV |
GCFC2:NM_001201334:exon11:c.G1101A:p.V367V,GCFC2:NM_003203:exon11:c.G1608A:p.V536V |
RS1803196 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Height:Gene expression of MRPL19
in normal prepouch ileum:Infant head circumference |
|
2 |
75923413 |
1 |
GCFC2 |
T |
C |
exonic |
nonsynonymous SNV |
GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S |
RS7560262 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Chronic kidney disease:Late onset
Alzheimer's disease:Variant Creutzfeldt-Jakob disease:Gene expression of
MRPL19 in normal prepouch ileum:Infant head circumference |
|
2 |
75937801 |
1 |
GCFC2 |
C |
T |
exonic |
nonsynonymous SNV |
GCFC2:NM_001201335:exon1:c.G181A:p.V61I,GCFC2:NM_003203:exon1:c.G181A:p.V61I |
|
2 |
85553784 |
1 |
TGOLN2 |
C |
T |
exonic |
synonymous SNV |
TGOLN2:NM_001206841:exon2:c.G1071A:p.G357G,TGOLN2:NM_006464:exon2:c.G1071A:p.G357G,TGOLN2:NM_001206844:exon3:c.G897A:p.G299G |
RS1044973 |
Gene expression of TGOLN2 [probe
1554608_at] in lymphoblastoid cell lines:Gene expression of TGOLN2 [probe
212043_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:HDL cholesterol:Differential exon level expression of
[probeset 2491522] in peripheral blood mononuclear cells:Total cholesterol
change with statins:Rheumatoid arthritis:HDL cholesterol:Height:Serum
concentration of 1-linoleoylglycerophosphoethanolamine*:Gene expression of
TGOLN2 [probeset 1554608_at] in sputum:Gene expression of TGOLN2 [probeset
203834_s_at] in sputum:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension) |
|
2 |
85554080 |
1 |
TGOLN2 |
G |
A |
exonic |
nonsynonymous SNV |
TGOLN2:NM_001206841:exon2:c.C775T:p.R259W,TGOLN2:NM_006464:exon2:c.C775T:p.R259W |
RS4247303 |
Amyotrophic lateral sclerosis
(ALS):Gene expression of TGOLN2 [probe 212043_at] in lymphoblastoid cell
lines:Gene expression of TGOLN2 [probe 1554608_at] in lymphoblastoid cell
lines:Total cholesterol change with statins:Rheumatoid arthritis:HDL cholesterol:Height:Gene
expression of TGOLN2///RETSAT in blood:Gene expression of RETSAT in
blood:Gene expression of TGOLN2 [probeset 1554608_at] in sputum:Bipolar
disorder:Major depressive disorder and bipolar disorder combined
analysis:Gene expression of TCF7L1 (probeID ILMN_1733841) in cerebellum in
Alzheimer's disease cases and controls:Bipolar disorder |
|
2 |
85622059 |
2 |
CAPG |
T |
C |
exonic |
nonsynonymous SNV |
CAPG:NM_001320734:exon9:c.A911G:p.H304R,CAPG:NM_001256139:exon10:c.A1004G:p.H335R,CAPG:NM_001256140:exon10:c.A959G:p.H320R,CAPG:NM_001320732:exon10:c.A1004G:p.H335R,CAPG:NM_001320733:exon10:c.A1004G:p.H335R,CAPG:NM_001747:exon10:c.A1004G:p.H335R |
RS6886 |
Total cholesterol:LDL
cholesterol:Gene expression of CAPG in normal prepouch ileum:Adiponectin
levels |
|
2 |
85769711 |
1 |
MAT2A |
C |
G |
exonic |
synonymous SNV |
MAT2A:NM_005911:exon7:c.C792G:p.R264R |
RS1078004 |
Serum creatinine:Adiponectin
levels:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Refractive error |
|
2 |
85780131 |
1 |
GGCX |
G |
A |
exonic |
synonymous SNV |
GGCX:NM_001142269:exon8:c.C1047T:p.R349R,GGCX:NM_000821:exon9:c.C1218T:p.R406R |
RS2592551 |
Gene expression of hmm28069 in
CHB-JPT lymphoblastoid cell lines:Gene expression of VAMP8 [probe 202546_at]
in lymphoblastoid cell lines:Fasting blood glucose:Serum
creatinine:Adiponectin levels:Birth weight |
|
2 |
85780536 |
1 |
GGCX |
C |
T |
exonic |
nonsynonymous SNV |
GGCX:NM_001142269:exon7:c.G803A:p.R268Q,GGCX:NM_000821:exon8:c.G974A:p.R325Q |
RS699664 |
Gene expression of hmm28069 in
CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:Gene expression of
COL13A1 in peripheral blood monocytes:Total cholesterol:LDL
cholesterol:Adiponectin levels:Birth weight:Gene expression of GGCX
(ENSG00000115486) in dendritic cells |
|
2 |
85781318 |
2 |
GGCX |
T |
G |
exonic |
synonymous SNV |
GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G |
|
2 |
85806266 |
1 |
VAMP8 |
C |
T |
exonic |
synonymous SNV |
VAMP8:NM_003761:exon2:c.C138T:p.N46N |
RS3731828 |
Gene expression of hmm28069 in
CHB-JPT lymphoblastoid cell lines:Gene expression of VAMP8 [probe 202546_at]
in lymphoblastoid cell lines:Fasting blood glucose:Serum
creatinine:Autism:Gene expression of VAMP8 in blood:Gene expression of MAT2A
in blood:Gene expression of VAMP5 in blood:Gene expression of USP39 in
blood:Gene expression of DPEP3 in blood:Refractive error:Birth weight:Aortic
valve calcium:Adiponectin levels:Coronary artery disease (CAD) |
|
2 |
85808737 |
1 |
VAMP8 |
A |
G |
exonic |
synonymous SNV |
VAMP8:NM_003761:exon3:c.A201G:p.R67R |
RS1009 |
Serum creatinine:Height:Body mass
index (BMI):Bipolar disorder:Refractive error:Gene expression of VAMP5
(ENSG00000168899) in dendritic cells treated with Mycobacterium
tuberculosis:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels |
|
2 |
85818886 |
1 |
VAMP5 |
C |
T |
exonic |
synonymous SNV |
VAMP5:NM_006634:exon2:c.C42T:p.N14N |
RS14976 |
Gene expression of VAMP5 [probe
204929_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Arthritis
including non-Rheumatoid:Gene expression of VAMP5 in CD4+
lymphocytes:Height:Body mass index (BMI):Late onset Alzheimer's disease:Gene
expression of VAMP8 in blood:Gene expression of RNF181 in blood:Gene
expression of USP39 in blood:Gene expression of VAMP5 in blood:Serum ratio of
(2-linoleoylglycerophosphoethanolamine*)/(tetradecanedioate):Serum ratio of
(glycodeoxycholate)/(valerate):Obesity with early age of onset (age
>2):Gene expression of VAMP8 in normal prepouch ileum:Adiponectin levels |
|
2 |
85824039 |
1 |
RNF181 |
G |
A |
exonic |
synonymous SNV |
RNF181:NM_016494:exon3:c.G312A:p.L104L |
|
2 |
85826721 |
1 |
TMEM150A |
G |
A |
exonic |
synonymous SNV |
TMEM150A:NM_001031738:exon7:c.C501T:p.T167T |
RS11891495 |
HOMA-B:Height:Adiponectin levels |
|
2 |
86259443 |
1 |
POLR1A |
C |
T |
exonic |
synonymous SNV |
POLR1A:NM_015425:exon29:c.G4224A:p.G1408G |
|
2 |
86315741 |
2 |
POLR1A |
C |
T |
exonic |
synonymous SNV |
POLR1A:NM_015425:exon6:c.G678A:p.T226T |
RS2288120 |
Gene expression of POLR1A in
CHB-JPT lymphoblastoid cell lines:Rheumatoid arthritis:Waist hip ratio:Gene
expression of POLR1A in normal prepouch ileum |
|
2 |
86317037 |
2 |
POLR1A |
G |
C |
exonic |
nonsynonymous SNV |
POLR1A:NM_015425:exon4:c.C448G:p.P150A |
RS4832242 |
LDL cholesterol:Rheumatoid
arthritis:Waist hip ratio |
|
2 |
86371883 |
1 |
IMMT |
T |
C |
exonic |
synonymous SNV |
IMMT:NM_001100169:exon15:c.A1782G:p.A594A,IMMT:NM_001100170:exon15:c.A1752G:p.A584A,IMMT:NM_006839:exon15:c.A1785G:p.A595A |
RS8244 |
Gene expression of IMMT in CEU
lymphoblastoid cell lines:Gene expression of probe 239366_at in
lymphoblastoid cell lines:Gene expression of IMMT [probe 200955_at] in
lymphoblastoid cell lines:HDL cholesterol:HOMA-IR:Fasting insulin:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Advanced age-related macular degeneration (geographic
atrophy):Adiponectin levels:Advanced age-related macular degeneration |
|
2 |
86400824 |
1 |
IMMT |
G |
A |
exonic |
nonsynonymous SNV |
IMMT:NM_001100169:exon4:c.C370T:p.P124S,IMMT:NM_001100170:exon4:c.C370T:p.P124S,IMMT:NM_006839:exon4:c.C370T:p.P124S |
RS1050301 |
Schizophrenia:Obesity with early age
of onset (age >2) |
|
2 |
86683642 |
1 |
KDM3A |
A |
G |
exonic |
nonsynonymous SNV |
KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V |
RS2030259 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Neuroticism:Differential exon level expression
of JMJD1A [probe 2492088] in peripheral blood mononuclear cells:Differential
exon level expression of JMJD1A [probe 2492088] in brain cortex:Fasting blood
glucose:Height:Body mass index (BMI):Gene expression of VPS24 [probe
ILMN_15069] in osteoblasts treated with PGE2:Microalbuminuria:Serum ratio of
(hexanoylcarnitine)/(sebacate (decanedioate)):Serum concentration of
isobutyrylcarnitine:Epilepsy:PROP taste detection threshold:Bipolar disorder |
|
2 |
86691250 |
1 |
KDM3A |
G |
A |
exonic |
synonymous SNV |
KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A |
|
2 |
88424066 |
1 |
FABP1 |
T |
C |
exonic |
nonsynonymous SNV |
FABP1:NM_001443:exon3:c.A280G:p.T94A |
RS2241883 |
Gene expression of TIGD2 in
liver:Gene expression of FABP1 in liver:Gene expression of ARHGAP5 in
liver:Tardive dyskinesia:Triglycerides change with statins:Lp-PLA2
activity:Microalbuminuria:Gene expression of THNSL2 in blood:Serum ratio of
(2-linoleoylglycerophosphocholine*)/(inosine):Serum concentration of
3-methylhistidine:Systolic blood pressure (SBP):Variant Creutzfeldt-Jakob
disease:Parkinson's disease:Prostate cancer |
|
2 |
88425811 |
1 |
FABP1 |
C |
T |
exonic |
nonsynonymous SNV |
FABP1:NM_001443:exon2:c.G124A:p.V42M |
|
2 |
88874891 |
1 |
EIF2AK3 |
C |
A |
exonic |
nonsynonymous SNV |
EIF2AK3:NM_001313915:exon13:c.G1657T:p.A553S,EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S |
RS1805165 |
Height:PROP taste detection
threshold:Refractive error |
|
2 |
88895123 |
1 |
EIF2AK3 |
T |
C |
exonic |
nonsynonymous SNV |
EIF2AK3:NM_001313915:exon3:c.A44G:p.Q15R,EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R |
RS13045 |
Height:Gene expression of RPIA
[transcript NM_144563, probe A_23_P131646] in liver:Bipolar
disorder:Refractive error |
|
2 |
95847518 |
1 |
ZNF2 |
G |
A |
exonic |
synonymous SNV |
ZNF2:NM_001291604:exon3:c.G705A:p.E235E,ZNF2:NM_001017396:exon4:c.G819A:p.E273E,ZNF2:NM_001282398:exon4:c.G831A:p.E277E,ZNF2:NM_001291605:exon5:c.G984A:p.E328E,ZNF2:NM_021088:exon5:c.G945A:p.E315E |
|
2 |
96944553 |
1 |
SNRNP200 |
G |
A |
exonic |
synonymous SNV |
SNRNP200:NM_014014:exon37:c.C5317T:p.L1773L |
RS772175 |
Irritible bowel syndrome:Rheumatoid
arthritis:HDL cholesterol change with statins:Cystatin C in
serum:Neuroblastoma (brain cancer):Gene expression of ITPRIPL1 in blood:Gene
expression of AC092603.3 in blood:Serum ratio of
(glutamate)/(lathosterol):Diastolic blood pressure (DBP):Bipolar disorder |
|
2 |
96952833 |
1 |
SNRNP200 |
A |
G |
exonic |
synonymous SNV |
SNRNP200:NM_014014:exon27:c.T3550C:p.L1184L |
RS3171927 |
Gene expression of CIAO1 in
CEU-CHB-JPT lymphoblastoid cell lines:Partial epilepsy:Gene expression of
AC092603.3 in blood:Gene expression of WDR39 in blood:Gene expression of
CIAO1 [probeset 203536_s_at] in sputum:Comorbid depressive syndrome and
alcohol dependence:Gene expression of LOC652147 (ENSG00000144028) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
STARD7 (ENSG00000084090) in dendritic cells treated with Mycobacterium
tuberculosis:Birth weight |
|
2 |
96993757 |
1 |
ITPRIPL1 |
C |
T |
exonic |
nonsynonymous SNV |
ITPRIPL1:NM_178495:exon1:c.C1412T:p.T471M,ITPRIPL1:NM_001163523:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001163524:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001324490:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001008949:exon3:c.C1388T:p.T463M |
RS2279105 |
Gene expression of CIAO1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Schizophrenia:Alzheimer's
disease:Partial epilepsy:Gene expression of ARID5A in blood:Gene expression
of WDR39 in blood:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Birth weight |
|
2 |
96993884 |
1 |
ITPRIPL1 |
A |
G |
exonic |
synonymous SNV |
ITPRIPL1:NM_178495:exon1:c.A1539G:p.P513P,ITPRIPL1:NM_001163523:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001163524:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001324490:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001008949:exon3:c.A1515G:p.P505P |
RS1048675 |
Gene expression of CIAO1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Birth weight |
|
2 |
97020049 |
1 |
NCAPH |
T |
C |
exonic |
synonymous SNV |
NCAPH:NM_001281712:exon8:c.T723C:p.D241D,NCAPH:NM_001281710:exon9:c.T1098C:p.D366D,NCAPH:NM_001281711:exon9:c.T1059C:p.D353D,NCAPH:NM_015341:exon9:c.T1131C:p.D377D |
RS3731935 |
Hypertension:Gene expression of
CIAO1 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of WDR39 in
liver:Childhood acute lymphoblastic leukemia:Serum ratio of
(hippurate)/(tiglyl carnitine):Birth weight |
|
2 |
97030247 |
1 |
NCAPH |
T |
C |
exonic |
nonsynonymous SNV |
NCAPH:NM_001281712:exon12:c.T1208C:p.V403A,NCAPH:NM_001281710:exon13:c.T1583C:p.V528A,NCAPH:NM_001281711:exon13:c.T1544C:p.V515A,NCAPH:NM_015341:exon13:c.T1616C:p.V539A |
RS2305935 |
Gene expression of CIAO1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Schizophrenia:Alzheimer's
disease:Partial epilepsy:Gene expression of WDR39 in blood:Gene expression of
ARID5A in blood:Comorbid depressive syndrome and alcohol dependence:Birth
weight |
|
2 |
97166204 |
2 |
NEURL3 |
A |
G |
exonic |
synonymous SNV |
NEURL3:NM_001285485:exon2:c.T486C:p.Y162Y,NEURL3:NM_001285486:exon3:c.T12C:p.Y4Y |
|
2 |
98274527 |
2 |
ACTR1B |
G |
C |
exonic |
synonymous SNV |
ACTR1B:NM_005735:exon8:c.C804G:p.V268V |
RS1042705 |
Fasting blood glucose:Rheumatoid
arthritis:Gene expression of ACTR1B in peripheral blood monocytes:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Birth weight |
|
2 |
98277090 |
1 |
ACTR1B |
T |
C |
exonic |
nonsynonymous SNV |
ACTR1B:NM_005735:exon3:c.A133G:p.M45V |
|
2 |
98427633 |
1 |
TMEM131 |
C |
T |
exonic |
synonymous SNV |
TMEM131:NM_015348:exon18:c.G1926A:p.E642E |
|
2 |
99149946 |
1 |
INPP4A |
G |
A |
exonic |
synonymous SNV |
INPP4A:NM_001134224:exon5:c.G258A:p.T86T,INPP4A:NM_001134225:exon5:c.G258A:p.T86T,INPP4A:NM_001351424:exon5:c.G258A:p.T86T,INPP4A:NM_001351425:exon5:c.G258A:p.T86T,INPP4A:NM_001351426:exon5:c.G258A:p.T86T,INPP4A:NM_001351427:exon5:c.G258A:p.T86T,INPP4A:NM_001351428:exon5:c.G258A:p.T86T,INPP4A:NM_001351429:exon5:c.G258A:p.T86T,INPP4A:NM_001566:exon5:c.G258A:p.T86T,INPP4A:NM_004027:exon5:c.G258A:p.T86T |
RS2278211 |
Triglycerides:Bipolar
disorder:Obesity with early age of onset (age >2):Adiponectin levels |
|
2 |
99778735 |
1 |
LIPT1 |
A |
G |
exonic |
synonymous SNV |
LIPT1:NM_145199:exon2:c.A315G:p.T105T,LIPT1:NM_001204830:exon3:c.A315G:p.T105T,LIPT1:NM_015929:exon3:c.A315G:p.T105T,LIPT1:NM_145197:exon4:c.A315G:p.T105T,LIPT1:NM_145198:exon4:c.A315G:p.T105T |
RS3791211 |
Triglycerides change with
statins:Waist hip ratio:Parkinson's disease |
|
2 |
99778985 |
2 |
LIPT1 |
T |
C |
exonic |
synonymous SNV |
LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L |
RS2632277 |
Type 1 diabetes, gender
differentiated:Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid
cell lines:Gene expression of TSGA10 [probe 220623_s_at] in lymphoblastoid
cell lines:Childhood acute lymphoblastic leukemia:HDL cholesterol:Methylation
levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal
cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe
cg09298484] in Caudal pons:Methylation levels at chr2:99125838-99125888 [hg18
coord, probe cg09298484] in Temporal cortex:Gene expression of TSGA10 in
peripheral blood monocytes:Gene expression of MRPL30 in peripheral blood
monocytes:Gene expression of REV1 in peripheral blood monocytes:Gene
expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in
peripheral blood monocytes:Serum ratio of (linolenate [alpha or gamma;
(18:3n3 or 6)])/(riboflavin (Vitamin B2)):Gene expression of TSGA10 (probeID
ILMN_1674645) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID
ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Infant
head circumference:Gene expression of TSGA10 (probeID ILMN_1680430) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal
prepouch ileum |
|
2 |
99779131 |
1 |
LIPT1 |
T |
C |
exonic |
synonymous SNV |
LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A |
RS2516835 |
Gene expression of TSGA10 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 in
liver:Differential exon level expression of TSGA10 [probe 2566605] in
peripheral blood mononuclear cells:Gene expression of LIPT1 [probe 2495782]
in brain cortex:Differential exon level expression of TSGA10 [probe 2566619]
in peripheral blood mononuclear cells:Gene expression of TSGA10 [probe
2566586] in peripheral blood mononuclear cells:Differential exon level
expression of TSGA10 [probe 2566619] in brain cortex:Gene expression of LIPT1
[probe 2495782] in peripheral blood mononuclear cells:Differential exon level
expression of TSGA10 [probeset 2566605] in brain cortex:Gene expression of
TSGA10 in Lymphoblastoid cell lines:Gene expression of LIPT1 [probe
ILMN_1674645] in peripheral leukocytes:HDL cholesterol:Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal
cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe
cg09298484] in Temporal cortex:Methylation levels at chr2:99125838-99125888
[hg18 coord, probe cg09298484] in Caudal pons:Gene expression of TSGA10 in
CD4+ lymphocytes:Gene expression of C2orf15 in CD4+ lymphocytes:Gene
expression of MRPL30 [probe ILMN_22645] in untreated osteoblasts:Gene expression
of LIPT1 [probe ILMN_5728] in osteoblasts treated with PGE2:Gene expression
of LOC129531 [probe ILMN_27516] in osteoblasts treated with BMP2:Serum
concentration of histidine:Gene expression of TSGA10 (probeID ILMN_1680430)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID
ILMN_2343105) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID
ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of LIPT1 in normal prepouch ileum:Infant head circumference |
|
2 |
99992822 |
1 |
EIF5B |
A |
C |
exonic |
nonsynonymous SNV |
EIF5B:NM_015904:exon10:c.A1565C:p.K522T |
RS7558074 |
Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:PROP
taste detection threshold |
|
2 |
99995517 |
1 |
EIF5B |
C |
T |
exonic |
synonymous SNV |
EIF5B:NM_015904:exon11:c.C1878T:p.T626T |
RS11896520 |
LDL cholesterol:PROP taste
detection threshold:College completion:Gene expression of LYG1 in normal
prepouch ileum |
|
2 |
99995804 |
1 |
EIF5B |
T |
C |
exonic |
synonymous SNV |
EIF5B:NM_015904:exon12:c.T1974C:p.D658D |
RS1376443 |
Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons |
|
2 |
100019496 |
1 |
REV1 |
A |
G |
exonic |
synonymous SNV |
REV1:NM_001037872:exon20:c.T3237C:p.I1079I,REV1:NM_016316:exon20:c.T3240C:p.I1080I,REV1:NM_001321454:exon21:c.T3348C:p.I1116I,REV1:NM_001321455:exon21:c.T3027C:p.I1009I,REV1:NM_001321458:exon21:c.T1770C:p.I590I,REV1:NM_001321459:exon21:c.T1671C:p.I557I,REV1:NM_001321460:exon21:c.T1671C:p.I557I |
RS2305354 |
Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons |
|
2 |
100055506 |
1 |
REV1 |
A |
G |
exonic |
nonsynonymous SNV |
REV1:NM_001037872:exon6:c.T770C:p.F257S,REV1:NM_001321454:exon6:c.T770C:p.F257S,REV1:NM_016316:exon6:c.T770C:p.F257S,REV1:NM_001321455:exon7:c.T560C:p.F187S |
RS3087386 |
Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:LDL
cholesterol:Gene expression of REV1L [probe ILMN_139004] in osteoblasts
treated with PGE2:PROP taste detection threshold:Bipolar disorder:Major
depressive disorder and bipolar disorder combined analysis |
|
2 |
100058870 |
1 |
REV1 |
C |
T |
exonic |
nonsynonymous SNV |
REV1:NM_001037872:exon5:c.G412A:p.V138M,REV1:NM_001321454:exon5:c.G412A:p.V138M,REV1:NM_016316:exon5:c.G412A:p.V138M,REV1:NM_001321455:exon6:c.G202A:p.V68M |
RS3087403 |
LDL cholesterol:Schizophrenia:Gene
expression of REV1 in peripheral blood monocytes:Gene expression of TSGA10 in
peripheral blood monocytes:Gene expression of MITD1 in peripheral blood
monocytes:Gene expression of LIPT1 in peripheral blood monocytes:Gene
expression of LYG1 in peripheral blood monocytes:Waist hip ratio:Late onset
Alzheimer's disease:Gene expression of REV1///EIF5B in blood:Gene expression
of LYG1 in blood:PROP taste detection threshold:Gene expression of LYG1 in
normal prepouch ileum:College completion |
|
2 |
101010082 |
1 |
CHST10 |
G |
C |
exonic |
synonymous SNV |
CHST10:NM_004854:exon7:c.C696G:p.T232T |
RS3748930 |
Triglycerides change with
statins:Height:Urinary albumin-to-creatinine ratio:PROP taste detection
threshold:College completion |
|
2 |
101186088 |
1 |
PDCL3 |
C |
T |
exonic |
synonymous SNV |
PDCL3:NM_024065:exon4:c.C273T:p.F91F |
RS1052117 |
HDL cholesterol change with statins |
|
2 |
101591304 |
2 |
NPAS2 |
A |
G |
exonic |
nonsynonymous SNV |
NPAS2:NM_002518:exon13:c.A1180G:p.T394A |
RS2305160 |
Irritible bowel syndrome:Prostate
cancer |
|
2 |
101607291 |
1 |
NPAS2 |
G |
A |
exonic |
nonsynonymous SNV |
NPAS2:NM_002518:exon19:c.G2068A:p.A690T |
|
2 |
101609827 |
1 |
NPAS2 |
C |
T |
exonic |
synonymous SNV |
NPAS2:NM_002518:exon20:c.C2130T:p.T710T |
RS9223 |
LDL cholesterol:Total
cholesterol:College completion |
|
2 |
101624471 |
1 |
TBC1D8 |
T |
C |
exonic |
nonsynonymous SNV |
TBC1D8:NM_001102426:exon20:c.A3235G:p.R1079G,TBC1D8:NM_001330348:exon20:c.A3280G:p.R1094G |
RS746924 |
Schizophrenia:Serum ratio of
(hyodeoxycholate)/(pyroglutamylglycine):Adiponectin levels |
|
2 |
101638888 |
1 |
TBC1D8 |
A |
G |
exonic |
synonymous SNV |
TBC1D8:NM_001102426:exon16:c.T2571C:p.D857D,TBC1D8:NM_001330348:exon16:c.T2616C:p.D872D |
RS3739014 |
Schizophrenia:Serum ratio of
(hyodeoxycholate)/(pyroglutamylglycine):Adiponectin levels |
|
2 |
101644855 |
1 |
TBC1D8 |
G |
A |
exonic |
synonymous SNV |
TBC1D8:NM_001102426:exon13:c.C2217T:p.P739P,TBC1D8:NM_001330348:exon13:c.C2262T:p.P754P |
RS11683877 |
LDL cholesterol:Gene expression
change of RPL31 (ENSG00000071082) in dendritic cells after treatment with
Mycobacterium tuberculosis:College completion |
|
2 |
101656726 |
1 |
TBC1D8 |
T |
C |
exonic |
nonsynonymous SNV |
TBC1D8:NM_001102426:exon6:c.A949G:p.T317A,TBC1D8:NM_001330348:exon6:c.A994G:p.T332A |
RS2289953 |
Serum ratio of
(hyodeoxycholate)/(pyroglutamylglycine):Resistance to kuru in aged women
despite likely exposure:Adiponectin levels |
|
2 |
101666919 |
1 |
TBC1D8 |
A |
T |
exonic |
nonsynonymous SNV |
TBC1D8:NM_001102426:exon5:c.T771A:p.D257E,TBC1D8:NM_001330348:exon5:c.T816A:p.D272E |
|
2 |
101898412 |
1 |
RNF149 |
G |
C |
exonic |
nonsynonymous SNV |
RNF149:NM_173647:exon6:c.C1068G:p.D356E |
RS13151 |
Refractive error |
|
2 |
101925026 |
2 |
RNF149 |
T |
C |
exonic |
nonsynonymous SNV |
RNF149:NM_173647:exon1:c.A25G:p.S9G |
|
2 |
102472459 |
1 |
MAP4K4 |
A |
G |
exonic |
synonymous SNV |
MAP4K4:NM_001242559:exon13:c.A1254G:p.E418E,MAP4K4:NM_001242560:exon13:c.A1254G:p.E418E,MAP4K4:NM_004834:exon13:c.A1254G:p.E418E,MAP4K4:NM_145686:exon13:c.A1254G:p.E418E,MAP4K4:NM_145687:exon13:c.A1254G:p.E418E |
RS1139583 |
Serum creatinine:Cystatin C in
serum:Gene expression of IL1R2 in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:Refractive
error:Parkinson's disease |
|
2 |
102481428 |
1 |
MAP4K4 |
T |
A |
exonic |
nonsynonymous SNV |
MAP4K4:NM_004834:exon16:c.T1648A:p.S550T,MAP4K4:NM_001242559:exon17:c.T1903A:p.S635T,MAP4K4:NM_001242560:exon17:c.T1879A:p.S627T,MAP4K4:NM_145686:exon17:c.T1810A:p.S604T,MAP4K4:NM_145687:exon17:c.T1810A:p.S604T |
|
2 |
103334969 |
1 |
MFSD9 |
G |
A |
exonic |
synonymous SNV |
MFSD9:NM_001322080:exon6:c.C1152T:p.G384G,MFSD9:NM_001322081:exon6:c.C1152T:p.G384G,MFSD9:NM_032718:exon6:c.C1335T:p.G445G |
RS1052431 |
Schizophrenia:Premature ovarian
failure:Serum creatinine:Asthma:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Parkinson's disease:Gene expression of MFSD9 (ENSG00000135953) in
dendritic cells treated with Mycobacterium tuberculosis |
|
2 |
103431404 |
2 |
TMEM182 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM182:NM_001321346:exon4:c.T241C:p.W81R,TMEM182:NM_001321345:exon5:c.T379C:p.W127R,TMEM182:NM_144632:exon5:c.T667C:p.W223R,TMEM182:NM_001321344:exon6:c.T538C:p.W180R,TMEM182:NM_001321343:exon7:c.T538C:p.W180R |
RS887987 |
LDL cholesterol:Rheumatoid
arthritis:Comorbid depressive syndrome and alcohol dependence |
|
2 |
105885961 |
1 |
TGFBRAP1 |
T |
C |
exonic |
nonsynonymous SNV |
TGFBRAP1:NM_001142621:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_001328646:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_004257:exon11:c.A2174G:p.H725R |
RS2241797 |
Triglycerides:Fasting
insulin:HOMA-B:HOMA-IR:Partial epilepsy:Serum ratio of
(1-methylxanthine)/(gamma-tocopherol) |
|
2 |
109099572 |
2 |
GCC2 |
C |
G |
exonic |
nonsynonymous SNV |
GCC2:NM_181453:exon12:c.C3400G:p.Q1134E |
|
2 |
109106381 |
1 |
GCC2 |
A |
G |
exonic |
synonymous SNV |
GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q |
RS12104502 |
HDL cholesterol:Methylation levels
at chr2:108431746-108431796 [hg18 coord, probe cg12433691] in Temporal cortex |
|
2 |
109389463 |
2 |
RANBP2 |
G |
A |
exonic |
synonymous SNV |
RANBP2:NM_006267:exon23:c.G8253A:p.E2751E |
|
2 |
109429146 |
2 |
CCDC138 |
T |
A |
exonic |
synonymous SNV |
CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A |
|
2 |
110372192 |
2 |
SOWAHC |
A |
G |
exonic |
synonymous SNV |
SOWAHC:NM_023016:exon1:c.A126G:p.L42L |
|
2 |
111907691 |
2 |
BCL2L11 |
T |
C |
exonic |
synonymous SNV |
BCL2L11:NM_001204106:exon3:c.T195C:p.I65I,BCL2L11:NM_001204107:exon3:c.T195C:p.I65I,BCL2L11:NM_001204108:exon3:c.T465C:p.I155I,BCL2L11:NM_001204110:exon3:c.T195C:p.I65I,BCL2L11:NM_138621:exon3:c.T465C:p.I155I,BCL2L11:NM_138622:exon3:c.T465C:p.I155I,BCL2L11:NM_207003:exon3:c.T195C:p.I65I,BCL2L11:NM_006538:exon4:c.T285C:p.I95I,BCL2L11:NM_138623:exon4:c.T285C:p.I95I |
RS724710 |
Longstanding arthritis:Rheumatoid
arthritis:B-cell chronic lymphocytic leukemia:Premature ovarian failure:Serum
creatinine:Gene expression of BCL2L11 in peripheral blood
monocytes:Asthma:Serum ratio of
(2-linoleoylglycerophosphoethanolamine*)/(beta-hydroxyisovalerate):Diastolic
blood pressure (DBP):Primary sclerosing cholangitis:Maternal transmission
distortion |
|
2 |
112592265 |
1 |
ANAPC1 |
T |
C |
exonic |
nonsynonymous SNV |
ANAPC1:NM_022662:exon19:c.A2300G:p.H767R |
|
2 |
112751928 |
1 |
MERTK |
G |
A |
exonic |
nonsynonymous SNV |
MERTK:NM_006343:exon9:c.G1397A:p.R466K |
RS7604639 |
HOMA-B:Fasting
insulin:HOMA-IR:Rheumatoid arthritis:Partial epilepsy:Late onset Alzheimer's
disease:Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
2 |
113089267 |
2 |
ZC3H6 |
T |
C |
exonic |
synonymous SNV |
ZC3H6:NM_198581:exon12:c.T2772C:p.N924N |
RS7601200 |
Simpson-Angus Scale:Major
depressive disorder (broad definition):Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition)
(males):HOMA-B:Fasting insulin:Gene expression of IL27RA in peripheral blood
monocytes:Total cholesterol:Diabetic nephropathy in type 2 diabetes mellitus
- end stage renal disease:Serum ratio of
(biliverdin)/(glycochenodeoxycholate):Resistance to kuru in aged women
despite likely exposure:College completion:General white matter integrity factor:Years
of education:Tetrology of fallot:Birth weight |
|
2 |
113277949 |
1 |
TTL |
T |
C |
exonic |
synonymous SNV |
TTL:NM_153712:exon6:c.T966C:p.D322D |
|
2 |
113308516 |
1 |
POLR1B |
T |
A |
exonic |
synonymous SNV |
POLR1B:NM_001282776:exon2:c.T66A:p.T22T,POLR1B:NM_001137604:exon4:c.T531A:p.T177T,POLR1B:NM_001282774:exon5:c.T699A:p.T233T,POLR1B:NM_001282779:exon5:c.T282A:p.T94T,POLR1B:NM_019014:exon5:c.T699A:p.T233T,POLR1B:NM_001282772:exon6:c.T813A:p.T271T,POLR1B:NM_001282777:exon6:c.T282A:p.T94T |
RS2304555 |
Simpson-Angus Scale:2 hour
glucose:Chronic kidney disease:PROP taste detection threshold:Birth weight |
|
2 |
113309473 |
1 |
POLR1B |
C |
T |
exonic |
nonsynonymous SNV |
POLR1B:NM_001282776:exon3:c.C251T:p.S84L,POLR1B:NM_001137604:exon5:c.C716T:p.S239L,POLR1B:NM_001282774:exon6:c.C884T:p.S295L,POLR1B:NM_001282779:exon6:c.C467T:p.S156L,POLR1B:NM_019014:exon6:c.C884T:p.S295L,POLR1B:NM_001282772:exon7:c.C998T:p.S333L,POLR1B:NM_001282777:exon7:c.C467T:p.S156L |
RS1545133 |
Simpson-Angus Scale:Gene expression
of SMAD3 in peripheral blood monocytes:Gene expression of ZNF410 in
peripheral blood monocytes:Gene expression of ANGEL1 in peripheral blood
monocytes:Gene expression of VPS45 in peripheral blood monocytes:Gene expression
of POLR1B in normal prepouch ileum:Birth weight |
|
2 |
113404708 |
2 |
SLC20A1 |
G |
A |
exonic |
synonymous SNV |
SLC20A1:NM_005415:exon2:c.G303A:p.L101L |
RS4849091 |
Major depressive disorder (narrow
definition) (males):Total cholesterol change with statins:LDL
cholesterol:Rheumatoid arthritis |
|
2 |
113513825 |
2 |
CKAP2L |
T |
C |
exonic |
nonsynonymous SNV |
CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,CKAP2L:NM_152515:exon4:c.A1123G:p.I375V |
RS6731822 |
Total cholesterol:Diastolic blood
pressure (DBP) |
|
2 |
113890304 |
1 |
IL1RN |
T |
C |
exonic |
synonymous SNV |
IL1RN:NM_173842:exon4:c.T390C:p.S130S,IL1RN:NM_000577:exon5:c.T336C:p.S112S,IL1RN:NM_173841:exon6:c.T399C:p.S133S,IL1RN:NM_173843:exon6:c.T288C:p.S96S,IL1RN:NM_001318914:exon7:c.T288C:p.S96S |
RS315952 |
IL1B:Schizophrenia:Barnes Akathisia
Rating Scale:Total cholesterol:Partial epilepsy:Triglycerides:Asthma:Age at
death with kuru exposure:Amyotrophic lateral sclerosis (ALS):Birth
weight:Acute respiratory distress syndrome:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
2 |
118583100 |
1 |
DDX18 |
G |
A |
exonic |
synonymous SNV |
DDX18:NM_006773:exon10:c.G1446A:p.T482T |
RS1052639 |
Chronic kidney disease:Gene
expression of GPR146 in peripheral blood monocytes:HDL cholesterol:Total
cholesterol:LDL cholesterol:Serum ratio of
(1-methylxanthine)/(4-ethylphenylsulfate):Birth weight:College
completion:Years of education |
|
2 |
118583940 |
1 |
DDX18 |
C |
T |
exonic |
synonymous SNV |
DDX18:NM_006773:exon11:c.C1617T:p.R539R |
RS2303348 |
Total cholesterol change with
statins:HDL cholesterol:Years of education |
|
2 |
118603844 |
2 |
|
2 |
118771566 |
1 |
CCDC93 |
C |
A |
exonic |
synonymous SNV |
CCDC93:NM_019044:exon1:c.G6T:p.G2G |
|
2 |
120060082 |
2 |
C2orf76 |
T |
C |
exonic |
nonsynonymous SNV |
C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R |
RS1052500 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Microalbuminuria:Gene
expression of STEAP3 in blood:Hypertension (early onset hypertension):Birth
weight:Advanced age-related macular degeneration (geographic atrophy) |
|
2 |
120438515 |
1 |
TMEM177 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM177:NM_001105198:exon2:c.G86C:p.G29A,TMEM177:NM_001105199:exon2:c.G86C:p.G29A,TMEM177:NM_030577:exon2:c.G86C:p.G29A |
|
2 |
120438523 |
1 |
TMEM177 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V |
|
2 |
120438696 |
2 |
TMEM177 |
A |
G |
exonic |
synonymous SNV |
TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q |
|
2 |
120439230 |
1 |
TMEM177 |
C |
G |
exonic |
nonsynonymous SNV |
TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E |
RS1983406 |
2 hour glucose:Gene expression of
TMEM177 [transcript NM_030577, probe A_23_P5339] in liver:Comorbid depressive
syndrome and alcohol dependence:Type 2 diabetes |
|
2 |
120980428 |
2 |
TMEM185B |
G |
C |
exonic |
nonsynonymous SNV |
TMEM185B:NM_024121:exon1:c.C125G:p.A42G |
|
2 |
122106262 |
1 |
CLASP1 |
T |
G |
exonic |
synonymous SNV |
CLASP1:NM_001142274:exon36:c.A4038C:p.T1346T,CLASP1:NM_001207051:exon36:c.A4056C:p.T1352T,CLASP1:NM_001142273:exon37:c.A4062C:p.T1354T,CLASP1:NM_015282:exon37:c.A4239C:p.T1413T |
|
2 |
128180872 |
1 |
PROC |
G |
T |
exonic |
synonymous SNV |
PROC:NM_000312:exon6:c.G423T:p.S141S |
RS5936 |
Gene expression of probe
239302_s_at in lymphoblastoid cell lines:Total cholesterol:Years of
education:College completion:Parkinson's disease |
|
2 |
128459214 |
1 |
SFT2D3 |
C |
G |
exonic |
nonsynonymous SNV |
SFT2D3:NM_032740:exon1:c.C112G:p.R38G |
|
2 |
128522203 |
1 |
WDR33 |
A |
T |
exonic |
stopgain |
WDR33:NM_001006622:exon6:c.T825A:p.Y275X |
|
2 |
128707791 |
1 |
SAP130 |
C |
A |
exonic |
nonsynonymous SNV |
SAP130:NM_001330300:exon16:c.G2506T:p.A836S,SAP130:NM_001330303:exon16:c.G2509T:p.A837S,SAP130:NM_024545:exon16:c.G2587T:p.A863S,SAP130:NM_001145928:exon17:c.G2692T:p.A898S,SAP130:NM_001330299:exon17:c.G2611T:p.A871S,SAP130:NM_001330301:exon17:c.G2614T:p.A872S,SAP130:NM_001330302:exon17:c.G2611T:p.A871S |
|
2 |
128757995 |
1 |
SAP130 |
A |
C |
exonic |
synonymous SNV |
SAP130:NM_001145928:exon8:c.T981G:p.S327S,SAP130:NM_001330299:exon8:c.T900G:p.S300S,SAP130:NM_001330300:exon8:c.T903G:p.S301S,SAP130:NM_001330301:exon8:c.T903G:p.S301S,SAP130:NM_001330302:exon8:c.T903G:p.S301S,SAP130:NM_001330303:exon8:c.T903G:p.S301S,SAP130:NM_024545:exon8:c.T981G:p.S327S |
|
2 |
128870808 |
2 |
UGGT1 |
T |
C |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon6:c.T672C:p.N224N |
RS4662775 |
LDL cholesterol |
|
2 |
128878014 |
2 |
UGGT1 |
G |
A |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon9:c.G957A:p.K319K |
|
2 |
128934400 |
2 |
UGGT1 |
T |
C |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon32:c.T3552C:p.T1184T |
RS2290111 |
Chronic kidney disease:Height:Birth
weight |
|
2 |
128939799 |
1 |
UGGT1 |
C |
T |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon37:c.C4179T:p.D1393D |
RS17178720 |
Total cholesterol:LDL
cholesterol:Asthma:Waist hip ratio |
|
2 |
128939817 |
1 |
UGGT1 |
G |
A |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon37:c.G4197A:p.K1399K |
RS1699 |
Gene expression of UGCGL1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Height:Waist hip
ratio:Years of education:College completion |
|
2 |
129075961 |
2 |
HS6ST1 |
T |
C |
exonic |
synonymous SNV |
HS6ST1:NM_004807:exon1:c.A177G:p.T59T |
|
2 |
130925088 |
1 |
SMPD4 |
C |
T |
exonic |
synonymous SNV |
SMPD4:NM_001171083:exon7:c.G633A:p.T211T,SMPD4:NM_017751:exon9:c.G852A:p.T284T,SMPD4:NM_017951:exon9:c.G852A:p.T284T |
|
2 |
131100734 |
1 |
IMP4 |
G |
A |
exonic |
nonsynonymous SNV |
IMP4:NM_001320304:exon2:c.G79A:p.E27K,IMP4:NM_001320305:exon2:c.G79A:p.E27K,IMP4:NM_033416:exon2:c.G79A:p.E27K |
RS11542411 |
Eye color:Gene expression of CCDC115
in blood:Gene expression of IMP4 in blood |
|
2 |
135711516 |
1 |
CCNT2 |
C |
T |
exonic |
synonymous SNV |
CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D |
RS3814355 |
HOMA-IR:Fasting insulin:Serum
creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass
index (BMI):Systolic blood pressure (SBP):Advanced age-related macular
degeneration (geographic atrophy):Parkinson's disease:Gene expression of LCT
in normal prepouch ileum |
|
2 |
135893372 |
2 |
RAB3GAP1 |
A |
G |
exonic |
nonsynonymous SNV |
RAB3GAP1:NM_001172435:exon17:c.A1793G:p.N598S,RAB3GAP1:NM_012233:exon17:c.A1793G:p.N598S |
RS10445686 |
Irritible bowel syndrome:Arthritis
including non-Rheumatoid:Premature ovarian failure:Total cholesterol:LDL
cholesterol:Salmonella-induced pyroptosis:Obesity with early age of onset
(age >2):Gene expression of LCT in normal prepouch ileum |
|
2 |
135911422 |
2 |
RAB3GAP1 |
T |
C |
exonic |
synonymous SNV |
RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F |
RS17261772 |
LDL cholesterol:Fasting
insulin:Serum creatinine:Cystatin C in serum:HDL cholesterol:LDL
cholesterol:Total cholesterol:Height:Body mass index (BMI):Parkinson's
disease:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
2 |
136511817 |
1 |
UBXN4 |
A |
G |
exonic |
synonymous SNV |
UBXN4:NM_014607:exon4:c.A303G:p.E101E |
RS1050115 |
Cystatin C in serum:Gene expression
of SLC7A5 in peripheral blood monocytes:Gene expression of DARS in peripheral
blood monocytes:Gene expression of MCM6 in peripheral blood monocytes:HDL
cholesterol:Total cholesterol:LDL cholesterol:Late onset Alzheimer's
disease:Tetrology of fallot:Obesity with early age of onset (age
>2):Aortic valve calcium:Advanced age-related macular degeneration
(geographic atrophy) |
|
2 |
150432976 |
2 |
MMADHC |
C |
T |
exonic |
synonymous SNV |
MMADHC:NM_015702:exon5:c.G453A:p.Q151Q |
RS11545261 |
Adiponectin levels |
|
2 |
152311570 |
2 |
RIF1 |
G |
A |
exonic |
nonsynonymous SNV |
RIF1:NM_001177665:exon21:c.G2506A:p.G836S,RIF1:NM_001177663:exon22:c.G2506A:p.G836S,RIF1:NM_001177664:exon22:c.G2506A:p.G836S,RIF1:NM_018151:exon22:c.G2506A:p.G836S |
RS2444263 |
Crohn's disease, combined control
dataset, gender differentiated:Eye color:Arthritis including
non-Rheumatoid:Serum creatinine:Gene expression of TNFAIP6 in blood:Serum
ratio of (linoleate (18:2n6))/(oleate (18:1n9)):Serum ratio of
(10-heptadecenoate (17:1n7))/(margarate (17:0)):Gene expression of RIF1
[probeset 236620_at] in sputum:Parkinson's disease:Gene expression of RIF1 in
normal prepouch ileum |
|
2 |
152320118 |
2 |
RIF1 |
G |
A |
exonic |
nonsynonymous SNV |
RIF1:NM_001177665:exon29:c.G4084A:p.V1362M,RIF1:NM_001177663:exon30:c.G4084A:p.V1362M,RIF1:NM_001177664:exon30:c.G4084A:p.V1362M,RIF1:NM_018151:exon30:c.G4084A:p.V1362M |
RS2123465 |
Eye color:Arthritis including
non-Rheumatoid:Serum creatinine:Gene expression of TNFAIP6 in blood:Serum
ratio of (10-heptadecenoate (17:1n7))/(margarate (17:0)):Parkinson's
disease:Gene expression of RIF1 in normal prepouch ileum |
|
2 |
152322095 |
2 |
RIF1 |
A |
T |
exonic |
nonsynonymous SNV |
RIF1:NM_001177665:exon29:c.A6061T:p.N2021Y,RIF1:NM_001177663:exon30:c.A6061T:p.N2021Y,RIF1:NM_001177664:exon30:c.A6061T:p.N2021Y,RIF1:NM_018151:exon30:c.A6061T:p.N2021Y |
|
2 |
153041544 |
2 |
|
2 |
153042419 |
2 |
|
2 |
153405594 |
1 |
FMNL2 |
G |
A |
exonic |
synonymous SNV |
FMNL2:NM_052905:exon4:c.G342A:p.L114L |
RS1155779 |
Serum ratio of (p-cresol
sulfate)/(phenylacetate) |
|
2 |
158626980 |
2 |
ACVR1 |
C |
T |
exonic |
synonymous SNV |
ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E |
RS1146031 |
Polycystic ovary syndrome |
|
2 |
158636910 |
2 |
ACVR1 |
G |
A |
exonic |
synonymous SNV |
ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A |
|
2 |
159389762 |
1 |
PKP4 |
C |
T |
exonic |
synonymous SNV |
PKP4:NM_001005476:exon2:c.C66T:p.A22A,PKP4:NM_001304969:exon2:c.C66T:p.A22A,PKP4:NM_001304971:exon2:c.C66T:p.A22A,PKP4:NM_003628:exon2:c.C66T:p.A22A |
|
2 |
160019863 |
2 |
TANC1 |
A |
G |
exonic |
nonsynonymous SNV |
TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_001350064:exon8:c.A752G:p.N251S,TANC1:NM_033394:exon8:c.A752G:p.N251S,TANC1:NM_001350065:exon9:c.A752G:p.N251S |
|
2 |
160035207 |
2 |
TANC1 |
T |
C |
exonic |
synonymous SNV |
TANC1:NM_001350062:exon11:c.T1440C:p.N480N,TANC1:NM_001350063:exon12:c.T1674C:p.N558N,TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_001350064:exon14:c.T2022C:p.N674N,TANC1:NM_033394:exon14:c.T2043C:p.N681N,TANC1:NM_001350065:exon15:c.T2022C:p.N674N |
|
2 |
160086692 |
1 |
TANC1 |
A |
G |
exonic |
synonymous SNV |
TANC1:NM_001350062:exon24:c.A4152G:p.T1384T,TANC1:NM_001350063:exon25:c.A4386G:p.T1462T,TANC1:NM_001350064:exon27:c.A4734G:p.T1578T,TANC1:NM_033394:exon27:c.A4755G:p.T1585T,TANC1:NM_001350065:exon28:c.A4734G:p.T1578T |
RS3821296 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
2 |
160136337 |
2 |
WDSUB1 |
G |
A |
exonic |
nonsynonymous SNV |
WDSUB1:NM_001330279:exon2:c.C11T:p.P4L,WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_001307994:exon3:c.C518T:p.P173L,WDSUB1:NM_001330274:exon3:c.C518T:p.P173L,WDSUB1:NM_001330276:exon3:c.C518T:p.P173L,WDSUB1:NM_001330277:exon3:c.C257T:p.P86L,WDSUB1:NM_001330278:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L |
|
2 |
160182302 |
1 |
BAZ2B |
C |
T |
exonic |
nonsynonymous SNV |
BAZ2B:NM_001289975:exon34:c.G5963A:p.S1988N,BAZ2B:NM_001329857:exon35:c.G6014A:p.S2005N,BAZ2B:NM_001329858:exon35:c.G5996A:p.S1999N,BAZ2B:NM_013450:exon35:c.G6071A:p.S2024N |
RS415793 |
Premature ovarian failure:Sporadic
Creutzfeldt-Jakob disease |
|
2 |
160604812 |
1 |
7-Mar |
C |
T |
exonic |
synonymous SNV |
MARCH7:NM_001282806:exon4:c.C843T:p.P281P,MARCH7:NM_001282807:exon4:c.C897T:p.P299P,MARCH7:NM_022826:exon5:c.C1011T:p.P337P,MARCH7:NM_001282805:exon7:c.C1011T:p.P337P |
RS1427329 |
Abnormal Involuntary Movement
Scale:LDL cholesterol change with statins:Lp-PLA2 mass:Rheumatoid
arthritis:Methylation levels at chr2:160363232-160363282 [hg18 coord, probe
cg15352315] in Cerebellum:Gene expression of 40609 in peripheral blood
monocytes:Gene expression of WDSUB1 in peripheral blood monocytes:Gene
expression of BAZ2B in peripheral blood monocytes:Serum ratio of
(gamma-glutamylvaline)/(succinylcarnitine):PROP taste detection
threshold:Transmission distortion:Maternal transmission distortion |
|
2 |
160604936 |
1 |
7-Mar |
G |
A |
exonic |
nonsynonymous SNV |
MARCH7:NM_001282806:exon4:c.G967A:p.G323S,MARCH7:NM_001282807:exon4:c.G1021A:p.G341S,MARCH7:NM_022826:exon5:c.G1135A:p.G379S,MARCH7:NM_001282805:exon7:c.G1135A:p.G379S |
RS13024801 |
Cystatin C in serum:Serum
creatinine:Systolic blood pressure (SBP):Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
2 |
160605268 |
2 |
7-Mar |
T |
C |
exonic |
synonymous SNV |
MARCH7:NM_001282806:exon4:c.T1299C:p.P433P,MARCH7:NM_001282807:exon4:c.T1353C:p.P451P,MARCH7:NM_022826:exon5:c.T1467C:p.P489P,MARCH7:NM_001282805:exon7:c.T1467C:p.P489P |
RS1365803 |
Serum creatinine:Chronic kidney
disease:Autism:Height:Urinary albumin-to-creatinine
ratio:Microalbuminuria:College completion |
|
2 |
162929979 |
1 |
DPP4 |
A |
G |
exonic |
synonymous SNV |
DPP4:NM_001935:exon2:c.T24C:p.L8L |
|
2 |
165476253 |
1 |
GRB14 |
A |
T |
exonic |
nonsynonymous SNV |
GRB14:NM_004490:exon2:c.T268A:p.F90I |
|
2 |
166740469 |
1 |
TTC21B |
A |
G |
exonic |
synonymous SNV |
TTC21B:NM_024753:exon26:c.T3519C:p.T1173T |
|
2 |
166788336 |
2 |
TTC21B |
T |
C |
exonic |
nonsynonymous SNV |
TTC21B:NM_024753:exon8:c.A826G:p.T276A |
|
2 |
166797646 |
2 |
TTC21B |
C |
T |
exonic |
nonsynonymous SNV |
TTC21B:NM_024753:exon6:c.G601A:p.V201M |
RS1432273 |
Spine bone mineral density
(BMD):Total cholesterol:Chronic kidney disease:Partial epilepsy:Late onset
Alzheimer's disease:Serum ratio of
(1-arachidonoylglycerophosphocholine*)/(1-eicosatrienoylglycerophosphocholine*):Age
at death with kuru exposure |
|
2 |
170403030 |
2 |
FASTKD1 |
T |
C |
exonic |
nonsynonymous SNV |
FASTKD1:NM_001322048:exon7:c.A1330G:p.M444V,FASTKD1:NM_001322049:exon7:c.A1330G:p.M444V,FASTKD1:NM_001281476:exon8:c.A1399G:p.M467V,FASTKD1:NM_001322046:exon8:c.A1399G:p.M467V,FASTKD1:NM_024622:exon8:c.A1399G:p.M467V |
RS2253680 |
Celiac disease:Hip bone mineral
density (BMD):Gene expression of PHOSPHO2///KLHL23 in blood:Sporadic
Creutzfeldt-Jakob disease:Gene expression of PHOSPHO2 in liver:College
completion |
|
2 |
170411693 |
2 |
FASTKD1 |
T |
C |
exonic |
synonymous SNV |
FASTKD1:NM_001322048:exon6:c.A1086G:p.L362L,FASTKD1:NM_001322049:exon6:c.A1086G:p.L362L,FASTKD1:NM_001281476:exon7:c.A1155G:p.L385L,FASTKD1:NM_001322046:exon7:c.A1155G:p.L385L,FASTKD1:NM_024622:exon7:c.A1155G:p.L385L |
RS2683455 |
Years of education:College
completion |
|
2 |
170605981 |
2 |
KLHL23;PHOSPHO2-KLHL23 |
C |
T |
exonic |
synonymous SNV |
KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G |
|
2 |
171572940 |
1 |
SP5 |
G |
A |
exonic |
nonsynonymous SNV |
SP5:NM_001003845:exon2:c.G223A:p.A75T |
|
2 |
171627676 |
2 |
ERICH2 |
T |
G |
exonic |
nonsynonymous SNV |
ERICH2:NM_001290030:exon1:c.T485G:p.L162R,ERICH2:NM_001290031:exon1:c.T485G:p.L162R |
|
2 |
171822466 |
2 |
GORASP2 |
C |
T |
exonic |
synonymous SNV |
GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S |
RS4668356 |
Hip bone mineral density
(BMD):Paired associates learning total errors 8 patterns:HOMA-IR:Exceptional
Longevity:Body mass index (BMI):Serum ratio of (glycine)/(n-Butyl
Oleate):Tourette's syndrome:Primary rhegmatogenous retinal detachment |
|
2 |
172180771 |
2 |
METTL8 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
2 |
172725301 |
2 |
SLC25A12 |
A |
G |
exonic |
synonymous SNV |
SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y |
RS1878583 |
Xylose:trans-Aconitate:Serum ratio
of (arabinose)/(indolepropionate):Serum ratio of (1-stearoylglycerol
(1-monostearin))/(1,7-dimethylurate):Hypertension (early onset
hypertension):Transmission distortion:Maternal transmission
distortion:Obesity with early age of onset (age >2) |
|
2 |
174128513 |
1 |
MAP3K20 |
C |
T |
exonic |
nonsynonymous SNV |
MAP3K20:NM_016653:exon19:c.C1592T:p.S531L |
RS3769148 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Serum creatinine:Gene
expression of ZAK in blood:Serum ratio of
(3-methylhistidine)/(laurylcarnitine):Obesity with early age of onset (age
>2) |
|
2 |
174946760 |
1 |
OLA1 |
T |
C |
exonic |
nonsynonymous SNV |
OLA1:NM_001011708:exon7:c.A287G:p.Y96C,OLA1:NM_013341:exon8:c.A761G:p.Y254C |
|
2 |
175263063 |
2 |
SCRN3 |
G |
A |
exonic |
nonsynonymous SNV |
SCRN3:NM_024583:exon2:c.G52A:p.D18N |
RS10497410 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Fasting blood glucose:Comorbid
depressive syndrome and alcohol dependence:Advanced age-related macular
degeneration:Hypertension (early onset hypertension):Advanced age-related
macular degeneration (geographic atrophy):Years of education:College
completion:Infant head circumference:Adiponectin levels |
|
2 |
176866948 |
1 |
LNPK |
G |
A |
exonic |
nonsynonymous SNV |
LNPK:NM_001305008:exon1:c.C71T:p.A24V,LNPK:NM_001305010:exon1:c.C71T:p.A24V |
|
2 |
180047908 |
2 |
SESTD1 |
T |
C |
exonic |
synonymous SNV |
SESTD1:NM_178123:exon3:c.A63G:p.K21K |
RS6757681 |
Birth weight |
|
2 |
180810180 |
2 |
CWC22 |
C |
T |
exonic |
synonymous SNV |
CWC22:NM_020943:exon20:c.G2403A:p.A801A |
RS6433817 |
Birth weight |
|
2 |
180810264 |
2 |
CWC22 |
A |
T |
exonic |
nonsynonymous SNV |
CWC22:NM_020943:exon20:c.T2319A:p.S773R |
RS6433818 |
Birth weight:Infant head
circumference |
|
2 |
180835792 |
2 |
CWC22 |
T |
A |
exonic |
synonymous SNV |
CWC22:NM_020943:exon9:c.A816T:p.V272V |
RS3768837 |
Birth weight |
|
2 |
183584755 |
2 |
DNAJC10 |
G |
A |
exonic |
nonsynonymous SNV |
DNAJC10:NM_001271581:exon4:c.G226A:p.D76N,DNAJC10:NM_018981:exon4:c.G226A:p.D76N |
|
2 |
183593697 |
2 |
DNAJC10 |
C |
T |
exonic |
synonymous SNV |
DNAJC10:NM_001271581:exon7:c.C609T:p.S203S,DNAJC10:NM_018981:exon7:c.C609T:p.S203S |
RS288280 |
Differential exon level expression
of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma
(brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of
erythritol:Sporadic Creutzfeldt-Jakob disease |
|
2 |
183622547 |
2 |
DNAJC10 |
T |
G |
exonic |
nonsynonymous SNV |
DNAJC10:NM_001271581:exon18:c.T1800G:p.H600Q,DNAJC10:NM_018981:exon19:c.T1938G:p.H646Q |
RS288334 |
Differential exon level expression
of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma
(brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of
erythritol:Sporadic Creutzfeldt-Jakob disease |
|
2 |
183627504 |
2 |
DNAJC10 |
A |
G |
exonic |
synonymous SNV |
DNAJC10:NM_001271581:exon21:c.A2103G:p.K701K,DNAJC10:NM_018981:exon22:c.A2241G:p.K747K |
|
2 |
187371544 |
1 |
ZC3H15 |
A |
G |
exonic |
synonymous SNV |
ZC3H15:NM_018471:exon9:c.A1071G:p.T357T |
|
2 |
187532417 |
2 |
ITGAV |
G |
A |
exonic |
nonsynonymous SNV |
ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I |
|
2 |
188343497 |
1 |
TFPI |
T |
C |
exonic |
nonsynonymous SNV |
TFPI:NM_001032281:exon7:c.A662G:p.N221S,TFPI:NM_001318941:exon8:c.A662G:p.N221S |
RS7586970 |
Longstanding arthritis:Differential
exon level expression of CALCRL [probe 2591390] in brain cortex:Total
cholesterol:LDL cholesterol:Waist hip ratio:Coronary artery disease
(CAD):Gene expression of TFPI [transcript NM_006287, probe A_32_P100947] in
liver:Gene expression of TFPI (probeID ILMN_1701032) in temporal cortex in
Alzheimer's disease cases:Gene expression of TFPI (probeID ILMN_1701032) in
cerebellum in Alzheimer's disease cases:Gene expression of TFPI (probeID
ILMN_1701032) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TFPI (probeID ILMN_1701032) in cerebellum in
Alzheimer's disease cases and controls |
|
2 |
190323530 |
1 |
WDR75 |
A |
G |
exonic |
synonymous SNV |
WDR75:NM_032168:exon7:c.A621G:p.T207T,WDR75:NM_001303096:exon8:c.A429G:p.T143T |
RS1157910 |
Bipolar disorder:Infant head
circumference:Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus |
|
2 |
190430177 |
2 |
SLC40A1 |
A |
G |
exonic |
synonymous SNV |
SLC40A1:NM_014585:exon6:c.T663C:p.V221V |
RS2304704 |
Differential exon level expression
of SLC40A1 [probe 2591868] in brain cortex:Tardive dyskinesia:Serum
creatinine:Gene expression of SLC40A1 in blood:Aortic valve calcium:Advanced
age-related macular degeneration (geographic atrophy):Birth weight:Diabetic
retinopathy in Type 2 diabetes mellitus:Infant head circumference |
|
2 |
190531426 |
2 |
ASNSD1 |
G |
A |
exonic |
nonsynonymous SNV |
ASNSD1:NM_019048:exon4:c.G568A:p.G190R |
RS1437880 |
Salmonella-induced pyroptosis |
|
2 |
190617643 |
2 |
OSGEPL1 |
A |
G |
exonic |
synonymous SNV |
OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N |
|
2 |
190620216 |
1 |
OSGEPL1 |
C |
T |
exonic |
nonsynonymous SNV |
OSGEPL1:NM_022353:exon3:c.G292A:p.A98T |
|
2 |
191161622 |
2 |
HIBCH |
T |
C |
exonic |
nonsynonymous SNV |
HIBCH:NM_014362:exon3:c.A136G:p.T46A,HIBCH:NM_198047:exon3:c.A136G:p.T46A |
RS1058180 |
Gene expression of INPP1 [probe
202794_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Triglycerides:LDL cholesterol change with statins:Triglycerides:Gene
expression of HIBCH in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene
expression of MFSD6 in blood:Gene expression of HIBCH in blood:Gene
expression of INPP1 in blood:Serum concentration of 1-linoleoylglycerol
(1-monolinolein):Resistance to kuru in aged women despite likely
exposure:Gene expression of HIBCH in liver:Gene expression of INPP1 (probeID
ILMN_1667239) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of INPP1 (probeID ILMN_1667239) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of INPP1 (probeID ILMN_1667239) in
cerebellum in Alzheimer's disease cases:Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Gene expression of HIBCH in normal
prepouch ileum:Aortic valve calcium:Gene expression of INPP1 (probeID
ILMN_1667239) in cerebellum in non-Alzheimer's disease samples |
|
2 |
191231458 |
2 |
INPP1 |
G |
A |
exonic |
synonymous SNV |
INPP1:NM_002194:exon4:c.G303A:p.E101E,INPP1:NM_001128928:exon5:c.G303A:p.E101E |
RS11544940 |
Chronic kidney disease:Gene
expression of HIBCH in peripheral blood monocytes:Triglycerides:Serum ratio
of (3-methylxanthine)/(p-cresol sulfate) |
|
2 |
191235901 |
2 |
INPP1 |
A |
C |
exonic |
synonymous SNV |
INPP1:NM_002194:exon6:c.A973C:p.R325R,INPP1:NM_001128928:exon7:c.A973C:p.R325R |
RS1882891 |
Diastolic blood pressure (DBP):Birth
weight |
|
2 |
191301368 |
1 |
MFSD6 |
A |
G |
exonic |
nonsynonymous SNV |
MFSD6:NM_017694:exon3:c.A613G:p.R205G |
RS9646748 |
Gene expression of MFSD6 [probe
225325_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene
expression of FLJ20160 [probe ILMN_5981] in osteoblasts:Major depressive
disorder:Total cholesterol change with statins:Triglycerides change with
statins:Lp-PLA2 mass:Partial epilepsy:Total
cholesterol:Triglycerides:Neuroblastoma (brain cancer):Gene expression of
MFSD6 in blood:Serum ratio of
(aspartylphenylalanine)/(taurochenodeoxycholate):Systolic blood pressure
(SBP):Bipolar disorder:Salmonella-induced pyroptosis:Years of education:Birth
weight |
|
2 |
191379268 |
2 |
NEMP2 |
G |
A |
exonic |
synonymous SNV |
NEMP2:NM_001142645:exon7:c.C864T:p.A288A |
RS4586658 |
Triglycerides:PROP taste detection
threshold:Birth weight |
|
2 |
192160875 |
2 |
MYO1B |
C |
T |
exonic |
synonymous SNV |
MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y |
RS4853575 |
Gene expression of MYO1B [probe
212365_at] in lymphoblastoid cell lines:Gene expression of MYO1B [probe
212364_at] in lymphoblastoid cell lines:Cystatin C in serum:Chronic kidney
disease:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:LDL cholesterol:Serum
concentration of glucose:Serum ratio of (phenol
sulfate)/(pyroglutamylglycine):Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels |
|
2 |
192250726 |
1 |
MYO1B |
G |
A |
exonic |
synonymous SNV |
MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E |
RS13018796 |
Infant head circumference |
|
2 |
192279327 |
1 |
MYO1B |
T |
C |
exonic |
synonymous SNV |
MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L |
RS2271767 |
LDL cholesterol:Infant head
circumference |
|
2 |
192701393 |
1 |
CAVIN2 |
A |
G |
exonic |
synonymous SNV |
CAVIN2:NM_004657:exon2:c.T534C:p.G178G |
RS10167187 |
Rheumatoid arthritis:LDL
cholesterol:Comorbid depressive syndrome and alcohol dependence:Infant head
circumference |
|
2 |
197662526 |
1 |
GTF3C3 |
T |
C |
exonic |
nonsynonymous SNV |
GTF3C3:NM_001206774:exon2:c.A209G:p.N70S,GTF3C3:NM_012086:exon2:c.A209G:p.N70S |
RS11559078 |
Microalbuminuria:PROP taste
detection threshold:Gene expression of C2orf66 in normal prepouch ileum |
|
2 |
198257795 |
1 |
SF3B1 |
T |
C |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon24:c.A3657G:p.V1219V |
RS4685 |
Rheumatoid arthritis:Gene
expression of PLCL1 in peripheral blood monocytes:Gene expression of COL6A3
in peripheral blood monocytes:Triglycerides:Infant head circumference |
|
2 |
198265526 |
1 |
SF3B1 |
A |
G |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon18:c.T2631C:p.G877G |
RS788018 |
Irritible bowel syndrome:Rheumatoid
arthritis:Gene expression of SF3B1 in blood:Gene expression of HSPD1///HSPE1
in blood:Serum concentration of cysteine:Infant head circumference |
|
2 |
198283305 |
1 |
SF3B1 |
T |
C |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon5:c.A423G:p.K141K |
RS788023 |
Rheumatoid arthritis:Infant head
circumference |
|
2 |
198327314 |
1 |
COQ10B |
G |
A |
exonic |
synonymous SNV |
COQ10B:NM_001320818:exon2:c.G156A:p.K52K,COQ10B:NM_001320819:exon3:c.G222A:p.K74K,COQ10B:NM_001320820:exon3:c.G177A:p.K59K,COQ10B:NM_025147:exon3:c.G306A:p.K102K |
RS3754822 |
Hip bone mineral density (BMD):2
hour glucose:HOMA-IR:Fasting insulin:Body mass index (BMI):Serum ratio of
(asparagine)/(myo-inositol):Prostate cancer:Gene expression of MARS2 in
normal prepouch ileum:Maternal transmission distortion |
|
2 |
198362018 |
1 |
HSPD1 |
T |
C |
exonic |
synonymous SNV |
HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K |
RS8539 |
Irritible bowel syndrome:2 hour
glucose:Rheumatoid arthritis:Gene expression of PLCL1 in peripheral blood
monocytes:Triglycerides:Infant head circumference |
|
2 |
198363504 |
1 |
HSPD1 |
A |
G |
exonic |
synonymous SNV |
HSPD1:NM_002156:exon2:c.T69C:p.T23T,HSPD1:NM_199440:exon2:c.T69C:p.T23T |
|
2 |
200776353 |
1 |
C2orf69 |
T |
G |
exonic |
nonsynonymous SNV |
C2orf69:NM_153689:exon1:c.T192G:p.D64E |
|
2 |
200790216 |
1 |
C2orf69 |
C |
T |
exonic |
synonymous SNV |
C2orf69:NM_153689:exon2:c.C765T:p.D255D |
|
2 |
200813126 |
1 |
TYW5 |
T |
C |
exonic |
nonsynonymous SNV |
TYW5:NM_001039693:exon2:c.A148G:p.S50G |
RS10497844 |
Serum creatinine:Chronic kidney
disease:Gene expression of RAD50 in peripheral blood
monocytes:Triglycerides:Microalbuminuria:Serum ratio of (1-palmitoylglycerol
(1-monopalmitin))/(pantothenate):Mitral annular calcium:Parkinson's disease |
|
2 |
201354935 |
1 |
KCTD18 |
C |
G |
exonic |
nonsynonymous SNV |
KCTD18:NM_001321547:exon7:c.G1169C:p.C390S,KCTD18:NM_001321548:exon7:c.G542C:p.C181S,KCTD18:NM_001321550:exon7:c.G542C:p.C181S,KCTD18:NM_152387:exon7:c.G1169C:p.C390S |
|
2 |
201355106 |
1 |
KCTD18 |
G |
A |
exonic |
nonsynonymous SNV |
KCTD18:NM_001321547:exon7:c.C998T:p.A333V,KCTD18:NM_001321548:exon7:c.C371T:p.A124V,KCTD18:NM_001321550:exon7:c.C371T:p.A124V,KCTD18:NM_152387:exon7:c.C998T:p.A333V |
RS13018579 |
Serum ratio of (glycerol
2-phosphate)/(pyroglutamine*) |
|
2 |
201437334 |
2 |
SGO2 |
T |
C |
exonic |
synonymous SNV |
SGO2:NM_001160033:exon7:c.T2265C:p.P755P,SGO2:NM_001160046:exon7:c.T2265C:p.P755P,SGO2:NM_152524:exon7:c.T2265C:p.P755P |
|
2 |
202025621 |
2 |
CFLAR |
A |
G |
exonic |
synonymous SNV |
CFLAR:NM_001202515:exon5:c.A525G:p.P175P,CFLAR:NM_001202516:exon7:c.A1155G:p.P385P,CFLAR:NM_001202518:exon7:c.A972G:p.P324P,CFLAR:NM_001202517:exon8:c.A972G:p.P324P,CFLAR:NM_001202519:exon8:c.A972G:p.P324P,CFLAR:NM_001351593:exon8:c.A972G:p.P324P,CFLAR:NM_001127183:exon9:c.A1260G:p.P420P,CFLAR:NM_001308042:exon9:c.A1260G:p.P420P,CFLAR:NM_001351590:exon9:c.A1260G:p.P420P,CFLAR:NM_001351594:exon9:c.A972G:p.P324P,CFLAR:NM_003879:exon9:c.A1260G:p.P420P |
RS1594 |
Gene expression of Hs.516624 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CFLAR [probe
211317_s_at] in lymphoblastoid cell lines:Gene expression of CFLAR [probe
208485_x_at] in lymphoblastoid cell lines:Triglycerides change with statins:Gene
expression of PPIL3 in Temporal cortex:Triglycerides:Total cholesterol:Gene
expression change of CASP10 (ENSG00000003400) in dendritic cells after
treatment with Mycobacterium tuberculosis:Advanced age-related macular
degeneration:College completion:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Mitral annular calcium:Years of
education |
|
2 |
202050677 |
2 |
CASP10 |
A |
G |
exonic |
synonymous SNV |
CASP10:NM_001206524:exon2:c.A177G:p.S59S,CASP10:NM_001206542:exon2:c.A177G:p.S59S,CASP10:NM_001230:exon2:c.A177G:p.S59S,CASP10:NM_001306083:exon2:c.A177G:p.S59S,CASP10:NM_032974:exon2:c.A177G:p.S59S,CASP10:NM_032976:exon2:c.A177G:p.S59S,CASP10:NM_032977:exon2:c.A177G:p.S59S |
RS3900115 |
Major depressive disorder (broad
definition) (females):Major depressive disorder (broad
definition):Triglycerides change with statins:LDL
cholesterol:Triglycerides:College completion:Mitral annular calcium:Years of
education:Gene expression of CFLAR (ENSG00000003402) in dendritic cells
treated with Mycobacterium tuberculosis:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression change
of CFLAR (ENSG00000003402) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
2 |
202074098 |
1 |
CASP10 |
G |
A |
exonic |
nonsynonymous SNV |
CASP10:NM_001206524:exon7:c.G1027A:p.V343I,CASP10:NM_001206542:exon7:c.G1099A:p.V367I,CASP10:NM_001230:exon7:c.G1099A:p.V367I,CASP10:NM_032974:exon9:c.G1228A:p.V410I,CASP10:NM_032977:exon9:c.G1228A:p.V410I |
RS13010627 |
2 hour glucose:Fasting blood
glucose:Gene expression of PPIL3 in peripheral blood monocytes |
|
2 |
202082459 |
2 |
CASP10 |
T |
A |
exonic |
nonsynonymous SNV |
CASP10:NM_001206524:exon8:c.T1363A:p.L455I,CASP10:NM_001230:exon8:c.T1435A:p.L479I,CASP10:NM_032977:exon10:c.T1564A:p.L522I |
RS13006529 |
Triglycerides change with
statins:Triglycerides:Years of education:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Mitral annular calcium |
|
2 |
202122995 |
2 |
CASP8 |
A |
G |
exonic |
nonsynonymous SNV |
CASP8:NM_001080125:exon1:c.A41G:p.K14R |
RS3769823 |
LDL cholesterol:Triglycerides:Serum
creatinine:Triglycerides:Gene expression of ALS2CR2 in blood:Gene expression
of CFLAR in blood:Gene expression of CASP8 [probeset 1553306_at] in
sputum:Years of education:College completion:Mitral annular calcium:Post-traumatic
stress disorder (PTSD) |
|
2 |
202149589 |
2 |
CASP8 |
G |
C |
exonic |
nonsynonymous SNV |
CASP8:NM_033356:exon7:c.G808C:p.D270H,CASP8:NM_001080124:exon8:c.G808C:p.D270H,CASP8:NM_001080125:exon8:c.G1030C:p.D344H,CASP8:NM_001228:exon9:c.G904C:p.D302H,CASP8:NM_033355:exon9:c.G853C:p.D285H |
RS1045485 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:Breast cancer (Estrogen receptor negative
breast cancer):Obesity with early age of onset (age >2):Breast
cancer:College completion:Breast cancer (Estrogen receptor negative breast
cancer) |
|
2 |
202264156 |
1 |
TRAK2 |
C |
T |
exonic |
nonsynonymous SNV |
TRAK2:NM_015049:exon5:c.G424A:p.V142I |
RS13022344 |
Partial epilepsy:LDL
cholesterol:Total cholesterol:Gene expression of ALS2CR2 in blood:Cognitive
response to topiramate treatment as measured by the Controlled Oral Word
Association cognitive test:College completion |
|
2 |
202337730 |
1 |
STRADB |
A |
G |
exonic |
synonymous SNV |
STRADB:NM_001206864:exon5:c.A246G:p.T82T,STRADB:NM_018571:exon5:c.A246G:p.T82T |
RS1019299 |
LDL cholesterol:Total
cholesterol:Obesity with early age of onset (age >2):College completion |
|
2 |
202342402 |
1 |
STRADB |
G |
T |
exonic |
synonymous SNV |
STRADB:NM_001206864:exon8:c.G609T:p.L203L,STRADB:NM_018571:exon8:c.G609T:p.L203L |
|
2 |
202575821 |
2 |
ALS2 |
G |
A |
exonic |
synonymous SNV |
ALS2:NM_020919:exon26:c.C4015T:p.L1339L |
RS3219168 |
LDL cholesterol change with
statins:Obesity with early age of onset (age >2):Birth weight:Infant head
circumference |
|
2 |
202625615 |
2 |
ALS2 |
C |
T |
exonic |
nonsynonymous SNV |
ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M |
RS3219156 |
HDL cholesterol:Asthma:Serum
concentration of glycerol:Sporadic Creutzfeldt-Jakob disease:Birth weight |
|
2 |
207006676 |
1 |
NDUFS1 |
T |
C |
exonic |
synonymous SNV |
NDUFS1:NM_001199982:exon9:c.A918G:p.R306R,NDUFS1:NM_001199981:exon11:c.A1143G:p.R381R,NDUFS1:NM_001199983:exon11:c.A1080G:p.R360R,NDUFS1:NM_001199984:exon12:c.A1293G:p.R431R,NDUFS1:NM_005006:exon12:c.A1251G:p.R417R |
RS1801318 |
Amyotrophic lateral sclerosis (ALS)
age of onset:Amyotrophic lateral sclerosis (ALS):Gene expression of EEF1B2
(ENSG00000114942) in dendritic cells:Gene expression of INO80D
(ENSG00000114933) in dendritic cells:Refractive error |
|
2 |
207008763 |
1 |
NDUFS1 |
C |
A |
exonic |
synonymous SNV |
NDUFS1:NM_001199982:exon7:c.G633T:p.A211A,NDUFS1:NM_001199981:exon9:c.G858T:p.A286A,NDUFS1:NM_001199983:exon9:c.G795T:p.A265A,NDUFS1:NM_001199984:exon10:c.G1008T:p.A336A,NDUFS1:NM_005006:exon10:c.G966T:p.A322A |
RS1127566 |
Rheumatoid arthritis |
|
2 |
207631461 |
1 |
FASTKD2 |
G |
A |
exonic |
nonsynonymous SNV |
FASTKD2:NM_001136193:exon2:c.G44A:p.S15N,FASTKD2:NM_001136194:exon2:c.G44A:p.S15N,FASTKD2:NM_014929:exon2:c.G44A:p.S15N |
RS3762568 |
LDL cholesterol change with
statins:Cystatin C in serum |
|
2 |
208477852 |
2 |
METTL21A |
G |
A |
exonic |
nonsynonymous SNV |
METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_001330130:exon4:c.C575T:p.T192I,METTL21A:NM_001330134:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I,METTL21A:NM_001330137:exon5:c.C629T:p.T210I |
RS2551949 |
Gene expression of FAM119A [probe
235177_at] in lymphoblastoid cell lines:Gene expression of FAM119A [probe
235931_at] in lymphoblastoid cell lines:Major depressive disorder:Serum
creatinine:Rheumatoid arthritis:Gene expression of CREB1 in CD4+ lymphocytes:Gene
expression of CREB1 [probe ILMN_4653] in untreated osteoblasts:Gene
expression of FAM119A in liver:Serum ratio of
(hexadecanedioate)/(taurodeoxycholate):Serum concentration of
glycine:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene
expression of FAM119A [probeset 235931_at] in sputum:Gene expression of
FAM119A (probeID ILMN_2049364) in cerebellum in Alzheimer's disease
cases:Gene expression of CCNYL1 (ENSG00000163249) in dendritic cells:Gene
expression of FAM119A (probeID ILMN_2049364) in temporal cortex in
Alzheimer's disease cases:Gene expression of FAM119A (probeID ILMN_2049364)
in cerebellum in non-Alzheimer's disease samples:Gene expression of FAM119A
(probeID ILMN_2049364) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of FAM119A (probeID ILMN_2049364) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of CCNYL1
(ENSG00000163249) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of FAM119A (probeID
ILMN_2049364) in temporal cortex in Alzheimer's disease cases and controls |
|
2 |
208477956 |
2 |
METTL21A |
C |
T |
exonic |
synonymous SNV |
METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330130:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330134:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330137:exon5:c.G525A:p.Q175Q |
RS2709416 |
Rheumatoid arthritis:Serum ratio of
(hexadecanedioate)/(taurodeoxycholate):Fasting insulin:HOMA-IR |
|
2 |
208478055 |
1 |
METTL21A |
A |
G |
exonic |
synonymous SNV |
METTL21A:NM_001127395:exon4:c.T372C:p.T124T,METTL21A:NM_001330130:exon4:c.T372C:p.T124T,METTL21A:NM_001330134:exon4:c.T372C:p.T124T,METTL21A:NM_145280:exon4:c.T372C:p.T124T,METTL21A:NM_001330137:exon5:c.T426C:p.T142T |
RS17520056 |
Rheumatoid arthritis |
|
2 |
208633413 |
2 |
FZD5 |
T |
C |
exonic |
synonymous SNV |
FZD5:NM_003468:exon2:c.A51G:p.L17L |
|
2 |
209184999 |
2 |
PIKFYVE |
C |
T |
exonic |
synonymous SNV |
PIKFYVE:NM_015040:exon17:c.C2106T:p.P702P |
|
2 |
209190330 |
2 |
PIKFYVE |
T |
C |
exonic |
nonsynonymous SNV |
PIKFYVE:NM_015040:exon20:c.T2795C:p.L932S |
|
2 |
209190519 |
2 |
PIKFYVE |
A |
T |
exonic |
nonsynonymous SNV |
PIKFYVE:NM_015040:exon20:c.A2984T:p.Q995L |
|
2 |
209190528 |
2 |
PIKFYVE |
C |
G |
exonic |
nonsynonymous SNV |
PIKFYVE:NM_015040:exon20:c.C2993G:p.T998S |
|
2 |
209191082 |
2 |
PIKFYVE |
C |
A |
exonic |
nonsynonymous SNV |
PIKFYVE:NM_015040:exon20:c.C3547A:p.Q1183K |
|
2 |
209191099 |
2 |
PIKFYVE |
T |
C |
exonic |
synonymous SNV |
PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N |
|
2 |
209212707 |
2 |
PIKFYVE |
G |
A |
exonic |
synonymous SNV |
PIKFYVE:NM_015040:exon35:c.G5334A:p.T1778T |
RS2304545 |
Microalbuminuria:Salmonella-induced
pyroptosis |
|
2 |
211456637 |
1 |
CPS1 |
A |
G |
exonic |
nonsynonymous SNV |
CPS1:NM_001875:exon10:c.A1030G:p.T344A,CPS1:NM_001122633:exon11:c.A1048G:p.T350A |
RS1047883 |
HDL cholesterol:LDL cholesterol |
|
2 |
211456639 |
1 |
CPS1 |
C |
T |
exonic |
synonymous SNV |
CPS1:NM_001875:exon10:c.C1032T:p.T344T,CPS1:NM_001122633:exon11:c.C1050T:p.T350T |
RS2229589 |
HDL cholesterol |
|
2 |
214142447 |
1 |
LOC100130451 |
G |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.C429T:p.C143C |
|
2 |
215632255 |
2 |
BARD1 |
C |
T |
exonic |
nonsynonymous SNV |
BARD1:NM_001282543:exon5:c.G1462A:p.V488M,BARD1:NM_000465:exon6:c.G1519A:p.V507M |
RS2070094 |
High-risk
neuroblastoma:Microalbuminuria |
|
2 |
215632256 |
2 |
BARD1 |
A |
G |
exonic |
synonymous SNV |
BARD1:NM_001282543:exon5:c.T1461C:p.H487H,BARD1:NM_000465:exon6:c.T1518C:p.H506H |
RS2070093 |
Cystatin C in
serum:Microalbuminuria:Advanced age-related macular degeneration:Aortic valve
calcium:Advanced age-related macular degeneration (geographic atrophy) |
|
2 |
215645464 |
1 |
BARD1 |
C |
G |
exonic |
nonsynonymous SNV |
BARD1:NM_001282543:exon3:c.G1077C:p.R359S,BARD1:NM_000465:exon4:c.G1134C:p.R378S |
RS2229571 |
High-risk neuroblastoma:Serum
creatinine |
|
2 |
216190020 |
1 |
ATIC |
C |
G |
exonic |
nonsynonymous SNV |
ATIC:NM_004044:exon5:c.C347G:p.T116S |
RS2372536 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Triglycerides change with statins:LDL cholesterol |
|
2 |
216229692 |
1 |
FN1 |
A |
G |
exonic |
synonymous SNV |
FN1:NM_212474:exon42:c.T6258C:p.Y2086Y,FN1:NM_212476:exon42:c.T6618C:p.Y2206Y,FN1:NM_001306130:exon43:c.T6531C:p.Y2177Y,FN1:NM_001306131:exon43:c.T6525C:p.Y2175Y,FN1:NM_001306132:exon43:c.T6450C:p.Y2150Y,FN1:NM_002026:exon44:c.T6795C:p.Y2265Y,FN1:NM_212478:exon44:c.T6720C:p.Y2240Y,FN1:NM_212482:exon44:c.T7161C:p.Y2387Y,FN1:NM_001306129:exon45:c.T7068C:p.Y2356Y |
RS11651 |
Gene expression of ATIC in
peripheral blood monocytes:Urinary albumin-to-creatinine ratio |
|
2 |
216235089 |
2 |
FN1 |
C |
T |
exonic |
nonsynonymous SNV |
FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I |
|
2 |
216242917 |
1 |
FN1 |
T |
A |
exonic |
synonymous SNV |
FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G |
|
2 |
216249587 |
2 |
FN1 |
C |
T |
exonic |
synonymous SNV |
FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E |
RS13652 |
Hip bone mineral density
(BMD):HOMA-B:Microalbuminuria:Late onset Alzheimer's disease |
|
2 |
216269209 |
1 |
FN1 |
T |
G |
exonic |
synonymous SNV |
FN1:NM_001306129:exon20:c.A3156C:p.P1052P,FN1:NM_001306130:exon20:c.A3156C:p.P1052P,FN1:NM_001306131:exon20:c.A3156C:p.P1052P,FN1:NM_001306132:exon20:c.A3156C:p.P1052P,FN1:NM_002026:exon20:c.A3156C:p.P1052P,FN1:NM_212474:exon20:c.A3156C:p.P1052P,FN1:NM_212476:exon20:c.A3156C:p.P1052P,FN1:NM_212478:exon20:c.A3156C:p.P1052P,FN1:NM_212482:exon20:c.A3156C:p.P1052P |
RS1053238 |
Triglycerides change with
statins:LDL cholesterol:Total cholesterol |
|
2 |
216269254 |
1 |
FN1 |
T |
G |
exonic |
synonymous SNV |
FN1:NM_001306129:exon20:c.A3111C:p.G1037G,FN1:NM_001306130:exon20:c.A3111C:p.G1037G,FN1:NM_001306131:exon20:c.A3111C:p.G1037G,FN1:NM_001306132:exon20:c.A3111C:p.G1037G,FN1:NM_002026:exon20:c.A3111C:p.G1037G,FN1:NM_212474:exon20:c.A3111C:p.G1037G,FN1:NM_212476:exon20:c.A3111C:p.G1037G,FN1:NM_212478:exon20:c.A3111C:p.G1037G,FN1:NM_212482:exon20:c.A3111C:p.G1037G |
|
2 |
216300482 |
1 |
FN1 |
T |
A |
exonic |
nonsynonymous SNV |
FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L |
RS1250259 |
Triglycerides change with
statins:LDL cholesterol:Total cholesterol:Waist hip ratio:Nonsyndromic striae
distensae (stretch marks) |
|
2 |
217012901 |
1 |
XRCC5 |
A |
G |
exonic |
synonymous SNV |
XRCC5:NM_021141:exon14:c.A1572G:p.T524T |
RS207906 |
Gene expression of XRCC5 in
blood:Salmonella-induced pyroptosis:Gene expression change of PECR
(ENSG00000115425) in dendritic cells after treatment with Mycobacterium
tuberculosis:Infant head circumference:Gene expression of PECR
(ENSG00000115425) in dendritic cells treated with Mycobacterium
tuberculosis:Maternal transmission distortion |
|
2 |
217279768 |
1 |
SMARCAL1 |
G |
A |
exonic |
nonsynonymous SNV |
SMARCAL1:NM_001127207:exon3:c.G341A:p.R114H,SMARCAL1:NM_014140:exon3:c.G341A:p.R114H |
|
2 |
217285119 |
1 |
SMARCAL1 |
C |
T |
exonic |
synonymous SNV |
SMARCAL1:NM_001127207:exon5:c.C960T:p.A320A,SMARCAL1:NM_014140:exon5:c.C960T:p.A320A |
|
2 |
218674697 |
1 |
TNS1 |
C |
T |
exonic |
nonsynonymous SNV |
TNS1:NM_001308023:exon27:c.G4747A:p.V1583I,TNS1:NM_001308022:exon28:c.G4768A:p.V1590I,TNS1:NM_022648:exon30:c.G4810A:p.V1604I |
RS918949 |
Spine bone mineral density
(BMD):Tardive dyskinesia:HDL cholesterol:Body mass index (BMI):Gene
expression of TNS1 in blood:Systolic blood pressure (SBP):Coronary artery
disease (CAD):Lung function, forced expiratory volume in 1 second (FEV1)
percent predicted (in nonasthmatic participants) |
|
2 |
218683154 |
1 |
TNS1 |
A |
G |
exonic |
nonsynonymous SNV |
TNS1:NM_001308023:exon21:c.T3526C:p.W1176R,TNS1:NM_001308022:exon22:c.T3550C:p.W1184R,TNS1:NM_022648:exon24:c.T3589C:p.W1197R |
RS2571445 |
Spine bone mineral density
(BMD):Lung function, forced expiratory volume in 1 second (FEV1):Lung
function, forced vital capacity (FVC):Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Lung function, forced expiratory volume in 1 second (FEV1), in
ever smokers:Lung function, ratio of forced expiratory volume in 1 second
(FEV1) to forced vital capacity (FVC) (FEV1/FVC), in ever smokers:Lung
function, forced expiratory volume in 1 second (FEV1), in nonsmokers (never
smokers):HDL cholesterol:Body mass index (BMI):Gene expression of TNS1 in
blood:Serum ratio of (1,3,7-trimethylurate)/(glycocholate):Systolic blood
pressure (SBP):Lung function, forced expiratory volume in 1 second
(FEV1):Lung function, ratio of forced expiratory volume in 1 second (FEV1) to
forced vital capacity (FVC) (FEV1/FVC):Lung function, forced expiratory
volume in 1 second (FEV1) in ever smokers:Paternal transmission
distortion:Coronary artery disease (CAD):Hypertension (early onset
hypertension) |
|
2 |
218712306 |
1 |
TNS1 |
C |
T |
exonic |
synonymous SNV |
TNS1:NM_001308022:exon16:c.G2559A:p.A853A,TNS1:NM_001308023:exon16:c.G2559A:p.A853A,TNS1:NM_022648:exon17:c.G2559A:p.A853A |
|
2 |
218745685 |
2 |
TNS1 |
G |
A |
exonic |
synonymous SNV |
TNS1:NM_001308022:exon15:c.C990T:p.S330S,TNS1:NM_001308023:exon15:c.C990T:p.S330S,TNS1:NM_022648:exon16:c.C990T:p.S330S |
RS10199795 |
College completion |
|
2 |
219140288 |
1 |
TMBIM1 |
G |
C |
exonic |
synonymous SNV |
TMBIM1:NM_001321438:exon11:c.C513G:p.P171P,TMBIM1:NM_001321428:exon12:c.C846G:p.P282P,TMBIM1:NM_001321432:exon12:c.C846G:p.P282P,TMBIM1:NM_022152:exon12:c.C846G:p.P282P,TMBIM1:NM_001321427:exon13:c.C846G:p.P282P,TMBIM1:NM_001321429:exon13:c.C846G:p.P282P,TMBIM1:NM_001321430:exon13:c.C846G:p.P282P,TMBIM1:NM_001321433:exon13:c.C846G:p.P282P,TMBIM1:NM_001321435:exon13:c.C846G:p.P282P,TMBIM1:NM_001321436:exon13:c.C846G:p.P282P |
RS2292550 |
Fasting blood glucose:Rheumatoid
arthritis:Height:Birth weight:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Aortic valve calcium |
|
2 |
219144815 |
2 |
TMBIM1 |
T |
C |
exonic |
synonymous SNV |
TMBIM1:NM_001321428:exon3:c.A237G:p.A79A,TMBIM1:NM_001321432:exon3:c.A237G:p.A79A,TMBIM1:NM_022152:exon3:c.A237G:p.A79A,TMBIM1:NM_001321427:exon4:c.A237G:p.A79A,TMBIM1:NM_001321429:exon4:c.A237G:p.A79A,TMBIM1:NM_001321430:exon4:c.A237G:p.A79A,TMBIM1:NM_001321433:exon4:c.A237G:p.A79A,TMBIM1:NM_001321435:exon4:c.A237G:p.A79A,TMBIM1:NM_001321436:exon4:c.A237G:p.A79A |
|
2 |
219146803 |
1 |
TMBIM1 |
G |
A |
exonic |
nonsynonymous SNV |
TMBIM1:NM_001321428:exon2:c.C62T:p.P21L,TMBIM1:NM_001321432:exon2:c.C62T:p.P21L,TMBIM1:NM_022152:exon2:c.C62T:p.P21L,TMBIM1:NM_001321427:exon3:c.C62T:p.P21L,TMBIM1:NM_001321429:exon3:c.C62T:p.P21L,TMBIM1:NM_001321430:exon3:c.C62T:p.P21L,TMBIM1:NM_001321433:exon3:c.C62T:p.P21L,TMBIM1:NM_001321435:exon3:c.C62T:p.P21L,TMBIM1:NM_001321436:exon3:c.C62T:p.P21L |
|
2 |
219267781 |
1 |
CTDSP1 |
C |
T |
exonic |
synonymous SNV |
CTDSP1:NM_001206878:exon5:c.C399T:p.H133H,CTDSP1:NM_021198:exon5:c.C402T:p.H134H,CTDSP1:NM_182642:exon5:c.C399T:p.H133H |
RS2227255 |
Schizophrenia:Differential exon
level expression of CTDSP1 [probe 2527799] in brain cortex:Differential exon
level expression of CTDSP1 [probe 2527799] in peripheral blood mononuclear
cells:Abnormal Involuntary Movement Scale:Gene expression of SLC11A1 in CD4+
lymphocytes:Height:Body mass index (BMI):Gene expression of CTDSP1///hsa-mir
in blood:Gene expression of SLC11A1 in blood:Serum ratio of
(cysteine-glutathione disulfide)/(oleoylcarnitine):Gene expression of CTDSP1
(ENSG00000144579) in dendritic cells treated with Mycobacterium tuberculosis |
|
2 |
219292724 |
1 |
VIL1 |
C |
T |
exonic |
synonymous SNV |
VIL1:NM_007127:exon5:c.C384T:p.H128H |
|
2 |
219319657 |
2 |
USP37 |
A |
G |
exonic |
nonsynonymous SNV |
USP37:NM_020935:exon26:c.T2936C:p.L979S |
|
2 |
219508372 |
1 |
ZNF142 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF142:NM_001105537:exon8:c.T2867A:p.L956H |
RS3770213 |
Height:Suicide attempts in major
depressive disorder |
|
2 |
219509618 |
1 |
ZNF142 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF142:NM_001105537:exon8:c.G1621T:p.A541S |
RS2230115 |
Gene expression of RQCD1 [probe
213098_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe
213179_at] in lymphoblastoid cell lines:Total cholesterol:Triglycerides:LDL
cholesterol:Height:Adiponectin levels |
|
2 |
219562675 |
1 |
STK36 |
G |
A |
exonic |
nonsynonymous SNV |
STK36:NM_001243313:exon25:c.G2945A:p.G982D,STK36:NM_015690:exon25:c.G3008A:p.G1003D |
RS1863704 |
Gene expression of RQCD1 [probe
213098_at] in lymphoblastoid cell lines:Gene expression of CYP27A1 in blood
cells in Celiac disease:Premature ovarian failure:HOMA-B:Fasting
insulin:Triglycerides change with statins:Gene expression of FAM134A [probe
221983_at] in prefrontal cortex:Gene expression of SLC11A1 in peripheral
blood monocytes:Gene expression of STK36 in peripheral blood monocytes:Gene
expression of CYP27A1 in peripheral blood monocytes:Triglycerides:Height:Body
mass index (BMI):Suicide attempts in major depressive disorder:Gene
expression of CYP27A1 in blood:Gene expression of ZNF142 in blood:Gene
expression of TTLL4 in blood:Gene expression of RQCD1 in blood:Serum ratio of
(glutamate)/(N2,N2-dimethylguanosine):Tetrology of fallot:Gene expression of
SLC27A1 (probeID ILMN_1704985) in whole blood in amyotrophic lateral
sclerosis cases and controls:Amyotrophic lateral sclerosis (ALS):Amyotrophic
lateral sclerosis (ALS):Gene expression of CYP27A1 (probeID ILMN_1704985) in
whole blood |
|
2 |
219602499 |
1 |
TTLL4 |
G |
C |
exonic |
nonsynonymous SNV |
TTLL4:NM_014640:exon3:c.G100C:p.E34Q |
RS3731877 |
Gene expression of RQCD1 [probe
213179_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe
213098_at] in lymphoblastoid cell lines:HOMA-B:Triglycerides:Height:Body mass
index (BMI):Refractive error:Obesity with early age of onset (age >2):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
2 |
219602819 |
1 |
TTLL4 |
G |
A |
exonic |
synonymous SNV |
TTLL4:NM_014640:exon3:c.G420A:p.P140P |
RS3731876 |
Triglycerides:Height:Body mass
index (BMI):Gene expression of CYP27A1 (probeID ILMN_1704985) in whole
blood:Birth weight:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of TTLL4 in normal prepouch
ileum:Obesity with early age of onset (age >2) |
|
2 |
219610433 |
1 |
TTLL4 |
A |
G |
exonic |
synonymous SNV |
TTLL4:NM_014640:exon7:c.A1806G:p.E602E |
RS586194 |
Gene expression of RQCD1 [probe
213098_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe
213179_at] in lymphoblastoid cell lines:Triglycerides:Height:Body mass index
(BMI):Refractive error:Obesity with early age of onset (age >2):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Birth weight:Gene expression of CYP27A1 (probeID ILMN_1704985) in whole
blood:Gene expression of TTLL4 in normal prepouch ileum |
|
2 |
220037393 |
2 |
CNPPD1 |
A |
G |
exonic |
nonsynonymous SNV |
CNPPD1:NM_015680:exon8:c.T1148C:p.L383P,CNPPD1:NM_001321389:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321390:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321391:exon9:c.T1148C:p.L383P |
|
2 |
220037666 |
1 |
CNPPD1 |
A |
G |
exonic |
nonsynonymous SNV |
CNPPD1:NM_015680:exon8:c.T875C:p.L292P,CNPPD1:NM_001321389:exon9:c.T875C:p.L292P,CNPPD1:NM_001321390:exon9:c.T875C:p.L292P,CNPPD1:NM_001321391:exon9:c.T875C:p.L292P |
RS1127102 |
Gene expression of SLC23A3 in CD4+
lymphocytes:Hypertension (early onset hypertension) |
|
2 |
220037756 |
1 |
CNPPD1 |
A |
G |
exonic |
nonsynonymous SNV |
CNPPD1:NM_015680:exon8:c.T785C:p.I262T,CNPPD1:NM_001321389:exon9:c.T785C:p.I262T,CNPPD1:NM_001321390:exon9:c.T785C:p.I262T,CNPPD1:NM_001321391:exon9:c.T785C:p.I262T |
RS1043160 |
Longstanding arthritis:Gene
expression of SLC23A3 in CD4+ lymphocytes:Height:Gene expression of STK16
[transcript NM_001008910, probe A_23_P108514] in liver:Gene expression of
FAM134A in blood:Gene expression of SLC23A3///NHEJ1 in blood:Gene expression
of ANKZF1///GLB1L in blood:Gene expression of C2orf24 in blood:Hypertension
(early onset hypertension) |
|
2 |
220040330 |
1 |
CNPPD1 |
A |
G |
exonic |
synonymous SNV |
CNPPD1:NM_015680:exon3:c.T243C:p.Y81Y,CNPPD1:NM_001321389:exon4:c.T243C:p.Y81Y,CNPPD1:NM_001321390:exon4:c.T243C:p.Y81Y,CNPPD1:NM_001321391:exon4:c.T243C:p.Y81Y |
RS1127101 |
Hypertension, combined control
dataset:Simpson-Angus Scale:Major depressive disorder:Gene expression of
FAM134A in peripheral blood monocytes:Gene expression of GLB1L in peripheral
blood monocytes:Gene expression of SLC23A3 in peripheral blood monocytes:Height:Transmission
distortion:Maternal transmission distortion |
|
2 |
220045454 |
1 |
RETREG2 |
G |
A |
exonic |
synonymous SNV |
RETREG2:NM_024293:exon5:c.G618A:p.G206G |
RS2293072 |
Gene expression of FAM134A in
peripheral blood monocytes:Height:Eosinophil count:Serum ratio of (p-cresol
sulfate)/(sebacate (decanedioate)):Comorbid depressive syndrome and alcohol
dependence:PROP taste detection threshold:Refractive error:Salmonella-induced
pyroptosis |
|
2 |
220046975 |
1 |
RETREG2 |
C |
A |
exonic |
nonsynonymous SNV |
RETREG2:NM_001321110:exon8:c.C635A:p.P212Q,RETREG2:NM_001321109:exon9:c.C635A:p.P212Q,RETREG2:NM_024293:exon9:c.C1256A:p.P419Q |
RS3731900 |
Gene expression of SLC23A3 in blood
cells in Celiac disease:Total cholesterol change with statins:Gene expression
of SLC23A3 in CD4+ lymphocytes:Gene expression of FAM134A in blood:Gene
expression of SLC23A3///NHEJ1 in blood:Gene expression of ANKZF1///GLB1L in
blood:Gene expression of C2orf24 in blood:Serum ratio of
(1-oleoylglycerophosphoethanolamine)/(proline):Gene expression of SLC23A3
[probeset 230949_at] in sputum:Hypertension (early onset hypertension) |
|
2 |
220047173 |
1 |
RETREG2 |
A |
T |
exonic |
nonsynonymous SNV |
RETREG2:NM_001321109:exon9:c.A833T:p.E278V,RETREG2:NM_001321110:exon9:c.A728T:p.E243V,RETREG2:NM_024293:exon9:c.A1454T:p.E485V |
|
2 |
220083279 |
1 |
ABCB6 |
C |
T |
exonic |
synonymous SNV |
ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L |
RS1109866 |
HDL cholesterol:Cystatin C in
serum:Years of education:College completion |
|
2 |
220085845 |
2 |
ATG9A |
A |
G |
exonic |
synonymous SNV |
ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T |
RS2276633 |
Triglycerides:HDL
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
2 |
220087441 |
1 |
ATG9A |
T |
C |
exonic |
nonsynonymous SNV |
ATG9A:NM_024085:exon10:c.A1774G:p.S592G,ATG9A:NM_001077198:exon11:c.A1774G:p.S592G |
RS2276635 |
Total cholesterol:LDL
cholesterol:Years of education:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
2 |
220113242 |
2 |
STK16 |
T |
G |
exonic |
synonymous SNV |
STK16:NM_001330214:exon6:c.T783G:p.L261L,STK16:NM_001330215:exon6:c.T525G:p.L175L,STK16:NM_001008910:exon8:c.T879G:p.L293L,STK16:NM_001330213:exon8:c.T879G:p.L293L |
|
2 |
220369959 |
1 |
GMPPA |
A |
T |
exonic |
synonymous SNV |
GMPPA:NM_013335:exon8:c.A630T:p.S210S,GMPPA:NM_205847:exon8:c.A630T:p.S210S |
|
2 |
220404381 |
2 |
CHPF |
A |
G |
exonic |
synonymous SNV |
CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y |
|
2 |
220404648 |
1 |
CHPF |
C |
T |
exonic |
synonymous SNV |
CHPF:NM_001195731:exon4:c.G1299A:p.L433L,CHPF:NM_024536:exon4:c.G1785A:p.L595L |
RS1043833 |
Triglycerides:Total
cholesterol:Triglycerides:HDL cholesterol:Waist hip ratio:Gene expression of
TMEM198 in normal prepouch ileum:Gene expression of CHPF in normal prepouch
ileum |
|
2 |
220404726 |
1 |
CHPF |
G |
A |
exonic |
synonymous SNV |
CHPF:NM_001195731:exon4:c.C1221T:p.H407H,CHPF:NM_024536:exon4:c.C1707T:p.H569H |
|
2 |
220405230 |
1 |
CHPF |
G |
A |
exonic |
synonymous SNV |
CHPF:NM_001195731:exon4:c.C717T:p.H239H,CHPF:NM_024536:exon4:c.C1203T:p.H401H |
|
2 |
220405321 |
2 |
CHPF |
T |
C |
exonic |
nonsynonymous SNV |
CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R |
RS6436155 |
Cystatin C in serum |
|
2 |
220406722 |
2 |
CHPF |
T |
C |
exonic |
synonymous SNV |
CHPF:NM_001195731:exon2:c.A18G:p.L6L,CHPF:NM_024536:exon2:c.A504G:p.L168L |
|
2 |
220412256 |
2 |
TMEM198 |
T |
C |
exonic |
synonymous SNV |
TMEM198:NM_001005209:exon3:c.T195C:p.F65F,TMEM198:NM_001303098:exon4:c.T195C:p.F65F |
|
2 |
220412282 |
1 |
TMEM198 |
T |
G |
exonic |
nonsynonymous SNV |
TMEM198:NM_001005209:exon3:c.T221G:p.V74G,TMEM198:NM_001303098:exon4:c.T221G:p.V74G |
|
2 |
220414016 |
2 |
TMEM198 |
C |
T |
exonic |
synonymous SNV |
TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D |
|
2 |
220414019 |
1 |
TMEM198 |
T |
C |
exonic |
synonymous SNV |
TMEM198:NM_001005209:exon4:c.T888C:p.P296P,TMEM198:NM_001303098:exon5:c.T888C:p.P296P |
|
2 |
220420956 |
2 |
OBSL1 |
A |
G |
exonic |
synonymous SNV |
OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D |
|
2 |
220422774 |
1 |
OBSL1 |
A |
G |
exonic |
synonymous SNV |
OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P |
|
2 |
220430203 |
2 |
OBSL1 |
C |
T |
exonic |
nonsynonymous SNV |
OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K |
RS1039898 |
Total cholesterol:HDL
cholesterol:Height:Neuroblastoma (brain cancer):Serum concentration of
1-myristoylglycerophosphocholine |
|
2 |
220431631 |
1 |
OBSL1 |
G |
T |
exonic |
synonymous SNV |
OBSL1:NM_001173408:exon5:c.C2055A:p.A685A,OBSL1:NM_001173431:exon5:c.C2055A:p.A685A,OBSL1:NM_015311:exon5:c.C2055A:p.A685A |
|
2 |
220432014 |
1 |
OBSL1 |
G |
A |
exonic |
synonymous SNV |
OBSL1:NM_001173408:exon4:c.C1818T:p.F606F,OBSL1:NM_001173431:exon4:c.C1818T:p.F606F,OBSL1:NM_015311:exon4:c.C1818T:p.F606F |
|
2 |
220435034 |
2 |
OBSL1 |
A |
G |
exonic |
synonymous SNV |
OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L |
RS10180675 |
Total cholesterol |
|
2 |
220435375 |
1 |
OBSL1 |
G |
A |
exonic |
synonymous SNV |
OBSL1:NM_001173408:exon1:c.C580T:p.L194L,OBSL1:NM_001173431:exon1:c.C580T:p.L194L,OBSL1:NM_015311:exon1:c.C580T:p.L194L |
|
2 |
220473025 |
1 |
STK11IP |
G |
A |
exonic |
synonymous SNV |
STK11IP:NM_052902:exon14:c.G1476A:p.A492A |
|
2 |
220476443 |
2 |
STK11IP |
C |
T |
exonic |
nonsynonymous SNV |
STK11IP:NM_052902:exon18:c.C2222T:p.S741F |
RS627530 |
Triglycerides |
|
2 |
223436607 |
1 |
FARSB |
C |
T |
exonic |
nonsynonymous SNV |
FARSB:NM_005687:exon17:c.G1753A:p.V585I |
RS7185 |
Irritible bowel
syndrome:Alzheimer's disease:Eur students <30 Digit Symbol:Total
cholesterol:Autism:Asthma:Infant head circumference |
|
2 |
223795450 |
1 |
ACSL3 |
T |
C |
exonic |
nonsynonymous SNV |
ACSL3:NM_203372:exon13:c.T1652C:p.F551S,ACSL3:NM_004457:exon14:c.T1652C:p.F551S |
|
2 |
224856650 |
1 |
SERPINE2 |
G |
A |
exonic |
synonymous SNV |
SERPINE2:NM_001136528:exon4:c.C555T:p.N185N,SERPINE2:NM_001136530:exon4:c.C591T:p.N197N,SERPINE2:NM_006216:exon4:c.C555T:p.N185N |
RS6712954 |
Diabetic retinopathy in Type 2
diabetes mellitus |
|
2 |
227661043 |
1 |
IRS1 |
T |
C |
exonic |
synonymous SNV |
IRS1:NM_005544:exon1:c.A2412G:p.A804A |
RS1801123 |
Gene expression of IRS1 in
CEU-CHB-JPT lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Rheumatoid
arthritis:Height:Infant head circumference |
|
2 |
228398422 |
1 |
AGFG1 |
A |
G |
exonic |
synonymous SNV |
AGFG1:NM_001135189:exon6:c.A852G:p.A284A,AGFG1:NM_001135188:exon7:c.A972G:p.A324A,AGFG1:NM_004504:exon7:c.A972G:p.A324A,AGFG1:NM_001135187:exon8:c.A1044G:p.A348A |
|
2 |
228416712 |
1 |
AGFG1 |
A |
G |
exonic |
synonymous SNV |
AGFG1:NM_001135189:exon10:c.A1296G:p.T432T,AGFG1:NM_001135188:exon11:c.A1416G:p.T472T,AGFG1:NM_004504:exon11:c.A1416G:p.T472T,AGFG1:NM_001135187:exon12:c.A1488G:p.T496T |
RS13426457 |
2 hour glucose:HOMA-IR |
|
2 |
231902316 |
1 |
C2orf72 |
T |
C |
exonic |
synonymous SNV |
C2orf72:NM_001144994:exon1:c.T36C:p.L12L |
|
2 |
232087474 |
2 |
ARMC9 |
A |
G |
exonic |
nonsynonymous SNV |
ARMC9:NM_001291656:exon6:c.A538G:p.I180V,ARMC9:NM_025139:exon6:c.A538G:p.I180V |
|
2 |
232087475 |
2 |
ARMC9 |
T |
A |
exonic |
nonsynonymous SNV |
ARMC9:NM_001291656:exon6:c.T539A:p.I180K,ARMC9:NM_025139:exon6:c.T539A:p.I180K |
|
2 |
232099979 |
1 |
ARMC9 |
G |
A |
exonic |
nonsynonymous SNV |
ARMC9:NM_001291656:exon8:c.G665A:p.R222H,ARMC9:NM_025139:exon8:c.G665A:p.R222H |
|
2 |
232326417 |
1 |
NCL |
C |
T |
exonic |
synonymous SNV |
NCL:NM_005381:exon3:c.G447A:p.E149E |
RS1131171 |
Bipolar disorder:Arthritis
including non-Rheumatoid:Gene expression of C2orf52 [probe 2603531] in brain
cortex:Height:Waist hip ratio:Bipolar disorder:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference |
|
2 |
233413771 |
1 |
TIGD1 |
C |
T |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.G822A:p.A274A |
RS6752614 |
Myopia |
|
2 |
233414341 |
1 |
TIGD1 |
C |
T |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.G252A:p.K84K |
RS4973540 |
Myopia |
|
2 |
233684603 |
1 |
GIGYF2 |
A |
G |
exonic |
nonsynonymous SNV |
GIGYF2:NM_001103148:exon20:c.A2419G:p.R807G,GIGYF2:NM_001103146:exon21:c.A2437G:p.R813G,GIGYF2:NM_001103147:exon23:c.A2500G:p.R834G,GIGYF2:NM_015575:exon23:c.A2437G:p.R813G |
|
2 |
233708806 |
2 |
GIGYF2 |
A |
G |
exonic |
synonymous SNV |
GIGYF2:NM_001103148:exon23:c.A2922G:p.Q974Q,GIGYF2:NM_001103146:exon24:c.A2940G:p.Q980Q,GIGYF2:NM_001103147:exon26:c.A3003G:p.Q1001Q,GIGYF2:NM_015575:exon26:c.A2940G:p.Q980Q |
RS3816334 |
Methylation levels at
chr2:233443261-233443311 [hg18 coord, probe cg13047596] in Temporal
cortex:Methylation levels at chr2:233443261-233443311 [hg18 coord, probe
cg13047596] in Frontal cortex:Height:Comorbid depressive syndrome and alcohol
dependence:Gene expression of KCNJ13 in normal prepouch ileum |
|
2 |
233757679 |
1 |
NGEF |
G |
A |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A |
RS748002 |
Height:Urinary albumin-to-creatinine
ratio:Years of education |
|
2 |
233757697 |
2 |
NGEF |
A |
G |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I |
RS895432 |
Total cholesterol change with
statins:Lp-PLA2 activity:Serum ratio of (cysteine-glutathione
disulfide)/(lathosterol):Infant head circumference:Refractive error |
|
2 |
233785015 |
2 |
NGEF |
G |
A |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P |
RS778354 |
Tardive dyskinesia:Total
cholesterol change with statins:Serum ratio of (n-Butyl Oleate)/(sebacate
(decanedioate)):Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Mitral annular calcium:Prostate cancer:Refractive error |
|
2 |
233834975 |
2 |
NGEF |
A |
G |
exonic |
nonsynonymous SNV |
NGEF:NM_019850:exon3:c.T332C:p.M111T |
RS4973588 |
2 hour glucose:Triglycerides change
with statins:HDL cholesterol change with statins:Autism:Diastolic blood
pressure (DBP):Systolic blood pressure (SBP) |
|
2 |
234066969 |
1 |
INPP5D |
C |
G |
exonic |
unknown |
UNKNOWN |
|
2 |
234113057 |
1 |
INPP5D |
G |
A |
exonic |
unknown |
UNKNOWN |
RS7346 |
Diabetic retinopathy in Type 2
diabetes mellitus |
|
2 |
234113301 |
1 |
INPP5D |
C |
T |
exonic |
unknown |
UNKNOWN |
RS9247 |
Asthma:Hypertension (early onset
hypertension):Diabetic retinopathy in Type 2 diabetes mellitus |
|
2 |
234750542 |
1 |
HJURP |
G |
C |
exonic |
nonsynonymous SNV |
HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_001282962:exon6:c.C722G:p.S241C,HJURP:NM_018410:exon8:c.C884G:p.S295C |
RS3732215 |
LDL cholesterol change with
statins:Cystatin C in serum:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
2 |
234750831 |
1 |
HJURP |
T |
C |
exonic |
nonsynonymous SNV |
HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_001282962:exon6:c.A433G:p.R145G,HJURP:NM_018410:exon8:c.A595G:p.R199G |
RS3806589 |
Longstanding arthritis:HDL
cholesterol:Cystatin C in serum:Partial epilepsy:Variant Creutzfeldt-Jakob
disease:Salmonella-induced pyroptosis |
|
2 |
235950187 |
1 |
SH3BP4 |
T |
C |
exonic |
synonymous SNV |
SH3BP4:NM_014521:exon4:c.T774C:p.D258D |
RS1469375 |
Triglycerides:2 hour
glucose:Ulcerative colitis:Asthma:Serum concentration of inosine:Adiponectin
levels |
|
2 |
235951819 |
1 |
SH3BP4 |
A |
G |
exonic |
synonymous SNV |
SH3BP4:NM_014521:exon4:c.A2406G:p.L802L |
RS3795962 |
2 hour glucose:Adiponectin levels |
|
2 |
236957822 |
2 |
AGAP1 |
G |
A |
exonic |
nonsynonymous SNV |
AGAP1:NM_014914:exon15:c.G1852A:p.V618I,AGAP1:NM_001037131:exon16:c.G2011A:p.V671I |
RS2034648 |
Body mass index (BMI):Diastolic
blood pressure (DBP):Paternal transmission distortion:Transmission
distortion:Maternal transmission distortion:Hypertension (early onset
hypertension) |
|
2 |
238969711 |
1 |
SCLY |
G |
A |
exonic |
nonsynonymous SNV |
SCLY:NM_016510:exon1:c.G40A:p.A14T |
|
2 |
238990388 |
1 |
SCLY |
G |
A |
exonic |
nonsynonymous SNV |
SCLY:NM_016510:exon5:c.G547A:p.A183T |
RS3210400 |
Triglycerides:HDL cholesterol:Total
cholesterol:Serum creatinine:Gene expression of UBE2F in CD4+
lymphocytes:Gene expression of KLHL30 in blood:Gene expression of UBE2F in
blood:Gene expression of SCLY [probeset 219808_at] in sputum:Adiponectin
levels:Gene expression of ESPNL (probeID ILMN_2115862) in cerebellum in
Progressive Supranuclear Palsy cases:Years of education:Gene expression of
ESPNL (probeID ILMN_2115862) in cerebellum in Alzheimer's disease cases and
controls:Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score
change at 3 months):Gene expression of ESPNL (probeID ILMN_2115862) in
cerebellum in Alzheimer's disease cases:Gene expression of ESPNL (probeID
ILMN_2115862) in cerebellum in non-Alzheimer's disease samples |
|
2 |
241404317 |
2 |
GPC1 |
C |
T |
exonic |
synonymous SNV |
GPC1:NM_002081:exon6:c.C1059T:p.P353P |
|
2 |
241405528 |
2 |
GPC1 |
A |
G |
exonic |
nonsynonymous SNV |
GPC1:NM_002081:exon9:c.A1498G:p.S500G |
RS2228331 |
Total cholesterol:Serum
creatinine:Intracranial aneurysm (female) |
|
2 |
241463453 |
1 |
ANKMY1 |
C |
A |
exonic |
nonsynonymous SNV |
ANKMY1:NM_001282780:exon6:c.G991T:p.V331L,ANKMY1:NM_001308375:exon6:c.G1228T:p.V410L,ANKMY1:NM_017844:exon6:c.G991T:p.V331L,ANKMY1:NM_016552:exon7:c.G1414T:p.V472L,ANKMY1:NM_001282771:exon8:c.G1681T:p.V561L |
RS3821348 |
Gene expression of ANKMY1 in blood
cells in Celiac disease:Gene expression of ANKMY1 [probe 2606741] in
peripheral blood mononuclear cells:Gene expression of ANKMY1 [probe
ILMN_24429] in osteoblasts:Serum creatinine:Gene expression of ANKMY1 in CD4+
lymphocytes:Gene expression of ANKMY1 [probe ILMN_24429] in untreated
osteoblasts:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts
treated with PGE2:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts
treated with BMP2:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts
treated with dexamethasone:Gene expression of ANKMY1 in blood:Gene expression
of DUSP28 in blood:Serum concentration of fructose:Bipolar
disorder:Transmission distortion |
|
2 |
241537421 |
2 |
CAPN10 |
G |
A |
exonic |
synonymous SNV |
CAPN10:NM_023085:exon8:c.G1395A:p.A465A,CAPN10:NM_023083:exon10:c.G1860A:p.A620A |
RS3749166 |
Total cholesterol:Adiponectin levels |
|
2 |
241538074 |
2 |
CAPN10 |
A |
G |
exonic |
nonsynonymous SNV |
CAPN10:NM_023085:exon10:c.A1531G:p.I511V,CAPN10:NM_023083:exon12:c.A1996G:p.I666V |
RS2975766 |
Autism:Triglycerides |
|
2 |
241558397 |
1 |
GPR35 |
G |
A |
exonic |
nonsynonymous SNV |
GPR35:NM_001195381:exon5:c.G38A:p.R13H,GPR35:NM_001195382:exon5:c.G38A:p.R13H |
|
2 |
241570249 |
1 |
GPR35 |
A |
C |
exonic |
nonsynonymous SNV |
GPR35:NM_005301:exon2:c.A880C:p.S294R,GPR35:NM_001195381:exon6:c.A973C:p.S325R,GPR35:NM_001195382:exon6:c.A973C:p.S325R |
RS3749172 |
Aortic valve calcium |
|
2 |
241828034 |
2 |
C2orf54 |
A |
G |
exonic |
nonsynonymous SNV |
C2orf54:NM_001085437:exon4:c.T926C:p.L309P,C2orf54:NM_001282921:exon4:c.T479C:p.L160P,C2orf54:NM_024861:exon4:c.T422C:p.L141P |
|
2 |
242035544 |
1 |
MTERF4 |
G |
C |
exonic |
nonsynonymous SNV |
MTERF4:NM_001330179:exon3:c.C451G:p.L151V,MTERF4:NM_182501:exon4:c.C1015G:p.L339V |
RS2240539 |
Fasting blood glucose:HOMA-IR:HDL
cholesterol |
|
2 |
242039198 |
1 |
MTERF4 |
T |
C |
exonic |
nonsynonymous SNV |
MTERF4:NM_001330180:exon2:c.A133G:p.T45A,MTERF4:NM_182501:exon2:c.A133G:p.T45A |
RS3796093 |
Irritible bowel
syndrome:HOMA-IR:Fasting blood glucose:HDL cholesterol:Gene expression of
PASK in blood:Gene expression of MTERFD2 in normal prepouch ileum:Maternal
transmission distortion |
|
2 |
242063448 |
1 |
PASK |
G |
A |
exonic |
synonymous SNV |
PASK:NM_001252119:exon11:c.C2820T:p.A940A,PASK:NM_001252122:exon11:c.C2715T:p.A905A,PASK:NM_001252124:exon11:c.C2820T:p.A940A,PASK:NM_015148:exon11:c.C2820T:p.A940A,PASK:NM_001252120:exon12:c.C2820T:p.A940A |
|
2 |
242066314 |
1 |
PASK |
T |
C |
exonic |
synonymous SNV |
PASK:NM_001252119:exon10:c.A2016G:p.A672A,PASK:NM_001252122:exon10:c.A1911G:p.A637A,PASK:NM_001252124:exon10:c.A2016G:p.A672A,PASK:NM_015148:exon10:c.A2016G:p.A672A,PASK:NM_001252120:exon11:c.A2016G:p.A672A |
RS2240542 |
HOMA-B |
|
2 |
242072357 |
1 |
PASK |
G |
A |
exonic |
synonymous SNV |
PASK:NM_001252119:exon9:c.C1395T:p.T465T,PASK:NM_001252122:exon9:c.C1290T:p.T430T,PASK:NM_001252124:exon9:c.C1395T:p.T465T,PASK:NM_015148:exon9:c.C1395T:p.T465T,PASK:NM_001252120:exon10:c.C1395T:p.T465T |
|
2 |
242203916 |
2 |
HDLBP |
A |
C |
exonic |
nonsynonymous SNV |
HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A |
|
2 |
242572846 |
1 |
THAP4 |
A |
G |
exonic |
synonymous SNV |
THAP4:NM_015963:exon2:c.T726C:p.S242S |
|
2 |
242573211 |
1 |
THAP4 |
T |
C |
exonic |
nonsynonymous SNV |
THAP4:NM_015963:exon2:c.A361G:p.S121G |
|
2 |
242610773 |
1 |
ATG4B |
T |
A |
exonic |
nonsynonymous SNV |
ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q |
|
2 |
242618050 |
1 |
DTYMK |
A |
G |
exonic |
synonymous SNV |
DTYMK:NM_001320902:exon3:c.T216C:p.D72D,DTYMK:NM_001320904:exon4:c.T288C:p.D96D,DTYMK:NM_012145:exon4:c.T345C:p.D115D,DTYMK:NM_001320905:exon5:c.T462C:p.D154D |
|
2 |
242757820 |
1 |
NEU4 |
G |
A |
exonic |
nonsynonymous SNV |
NEU4:NM_001167599:exon4:c.G940A:p.G314R,NEU4:NM_001167600:exon4:c.G901A:p.G301R,NEU4:NM_001167601:exon4:c.G901A:p.G301R,NEU4:NM_080741:exon4:c.G937A:p.G313R,NEU4:NM_001167602:exon5:c.G901A:p.G301R |
|
3 |
3170792 |
1 |
TRNT1 |
C |
T |
exonic |
nonsynonymous SNV |
TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L |
RS334773 |
Salmonella-induced pyroptosis |
|
3 |
3189279 |
1 |
TRNT1 |
A |
G |
exonic |
synonymous SNV |
TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A |
RS1705805 |
Gene expression of TRNT1 in YRI
lymphoblastoid cell lines:HOMA-IR:Fasting insulin:HOMA-B:Body mass index
(BMI):Gene expression of CRBN in blood |
|
3 |
4403837 |
1 |
SUMF1 |
A |
G |
exonic |
synonymous SNV |
SUMF1:NM_001164674:exon8:c.T1041C:p.T347T,SUMF1:NM_001164675:exon8:c.T1056C:p.T352T,SUMF1:NM_182760:exon9:c.T1116C:p.T372T |
RS2633852 |
Gene expression of SUMF1 in
peripheral blood monocytes:Gene expression of SETMAR in peripheral blood
monocytes:Triglycerides:PROP taste detection threshold:Gene expression of
SUMF1 in normal prepouch ileum:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Transmission distortion |
|
3 |
4817057 |
2 |
ITPR1 |
T |
C |
exonic |
synonymous SNV |
ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N |
RS6442905 |
HDL cholesterol:HOMA-IR:Fasting
blood glucose |
|
3 |
5241309 |
2 |
EDEM1 |
C |
A |
exonic |
synonymous SNV |
EDEM1:NM_014674:exon3:c.C615A:p.A205A |
RS410509 |
LDL cholesterol:Intron expression |
|
3 |
9406836 |
2 |
THUMPD3 |
T |
C |
exonic |
synonymous SNV |
THUMPD3:NM_001114092:exon2:c.T84C:p.S28S,THUMPD3:NM_015453:exon2:c.T84C:p.S28S |
RS1054975 |
Triglycerides:Fasting blood
glucose:Gene expression of THUMPD3 in normal prepouch ileum:Advanced
age-related macular degeneration (geographic atrophy) |
|
3 |
9422210 |
2 |
THUMPD3 |
T |
C |
exonic |
synonymous SNV |
THUMPD3:NM_001114092:exon7:c.T1032C:p.C344C,THUMPD3:NM_015453:exon7:c.T1032C:p.C344C |
RS2596916 |
Microalbuminuria:Serum ratio of
(sebacate (decanedioate))/(taurolithocholate 3-sulfate) |
|
3 |
9425911 |
2 |
THUMPD3 |
G |
A |
exonic |
synonymous SNV |
THUMPD3:NM_001114092:exon9:c.G1251A:p.K417K,THUMPD3:NM_015453:exon9:c.G1251A:p.K417K |
RS1129170 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
3 |
9426330 |
1 |
THUMPD3 |
A |
G |
exonic |
synonymous SNV |
THUMPD3:NM_001114092:exon10:c.A1482G:p.E494E,THUMPD3:NM_015453:exon10:c.A1482G:p.E494E |
|
3 |
9870857 |
1 |
ARPC4-TTLL3;TTLL3 |
G |
A |
exonic |
synonymous SNV |
TTLL3:NM_001025930:exon10:c.G1761A:p.Q587Q,ARPC4-TTLL3:NM_001198793:exon11:c.G1515A:p.Q505Q |
|
3 |
9871030 |
1 |
ARPC4-TTLL3;TTLL3 |
T |
G |
exonic |
nonsynonymous SNV |
TTLL3:NM_001025930:exon10:c.T1934G:p.M645R,ARPC4-TTLL3:NM_001198793:exon11:c.T1688G:p.M563R |
|
3 |
9934605 |
1 |
JAGN1 |
T |
C |
exonic |
synonymous SNV |
JAGN1:NM_032492:exon2:c.T96C:p.T32T |
RS279553 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Total cholesterol:Triglycerides change
with statins:Chronic kidney disease:Cystatin C in serum:Gene expression of
IL17RC in peripheral blood monocytes:Gene expression of CRELD1 in peripheral
blood monocytes:Gene expression of PACAP in peripheral blood monocytes:HDL
cholesterol:Height:Gene expression of TTLL3 in blood:Gene expression of
CRELD1///PRRT3 in blood:Serum concentration of threitol:Emergence of suicidal
ideation during treatment with antidepressants:Emergence of suicidal ideation
during treatment with antidepressants
(broad definition - no increase in suicide ideation):Emergence of
suicidal ideation during treatment with antidepressants (narrow definition - emergence from
suicidal ideation absent at baseline):Age at death with kuru
exposure:Transmission distortion |
|
3 |
9944636 |
1 |
IL17RE |
C |
T |
exonic |
nonsynonymous SNV |
IL17RE:NM_001193380:exon1:c.C20T:p.A7V,IL17RE:NM_153480:exon1:c.C20T:p.A7V,IL17RE:NM_153483:exon2:c.C140T:p.A47V |
|
3 |
9952706 |
1 |
IL17RE |
A |
G |
exonic |
synonymous SNV |
IL17RE:NM_153481:exon7:c.A612G:p.T204T,IL17RE:NM_001193380:exon9:c.A960G:p.T320T,IL17RE:NM_153480:exon9:c.A960G:p.T320T,IL17RE:NM_153483:exon10:c.A1080G:p.T360T |
RS279572 |
Spine bone mineral density
(BMD):Total cholesterol:Rheumatoid arthritis:HDL cholesterol:Gene expression
of TTLL3 in blood:Gene expression of CRELD1///PRRT3 in blood:Serum ratio of
(2-hydroxystearate)/(3-methoxytyrosine):Birth weight |
|
3 |
9957455 |
1 |
IL17RE |
C |
T |
exonic |
synonymous SNV |
IL17RE:NM_153481:exon14:c.C1620T:p.L540L,IL17RE:NM_153480:exon16:c.C1968T:p.L656L,IL17RE:NM_153483:exon17:c.C2088T:p.L696L |
RS1056286 |
Gene expression of JAGN1
(ENSG00000171135) in dendritic cells |
|
3 |
9960070 |
1 |
IL17RC |
C |
T |
exonic |
nonsynonymous SNV |
IL17RC:NM_001203263:exon4:c.C332T:p.S111L,IL17RC:NM_001203264:exon4:c.C332T:p.S111L,IL17RC:NM_001203265:exon4:c.C332T:p.S111L,IL17RC:NM_032732:exon4:c.C332T:p.S111L,IL17RC:NM_153460:exon4:c.C332T:p.S111L,IL17RC:NM_153461:exon4:c.C545T:p.S182L |
RS708567 |
Total cholesterol:Rheumatoid
arthritis:HDL cholesterol:Height:Serum ratio of
(gamma-glutamylisoleucine*)/(p-cresol sulfate):Birth weight |
|
3 |
9970031 |
2 |
IL17RC |
A |
G |
exonic |
nonsynonymous SNV |
IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R |
|
3 |
9970158 |
1 |
IL17RC |
C |
T |
exonic |
synonymous SNV |
IL17RC:NM_001203265:exon10:c.C1002T:p.N334N,IL17RC:NM_032732:exon10:c.C1002T:p.N334N,IL17RC:NM_001203263:exon11:c.C1047T:p.N349N,IL17RC:NM_001203264:exon11:c.C1047T:p.N349N,IL17RC:NM_153460:exon11:c.C1047T:p.N349N,IL17RC:NM_153461:exon11:c.C1260T:p.N420N |
RS279548 |
Gene expression change of CIDEC
(ENSG00000187288) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
3 |
9975247 |
2 |
IL17RC |
C |
G |
exonic |
synonymous SNV |
IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G |
|
3 |
9976159 |
2 |
CRELD1 |
A |
G |
exonic |
nonsynonymous SNV |
CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V |
|
3 |
10967739 |
2 |
SLC6A11 |
T |
C |
exonic |
synonymous SNV |
SLC6A11:NM_014229:exon9:c.T1170C:p.P390P |
RS2272395 |
Total cholesterol:Rheumatoid
arthritis |
|
3 |
10976876 |
2 |
SLC6A11 |
A |
G |
exonic |
synonymous SNV |
SLC6A11:NM_014229:exon13:c.A1737G:p.T579T |
RS2245532 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Total cholesterol |
|
3 |
11400019 |
1 |
ATG7 |
T |
C |
exonic |
nonsynonymous SNV |
ATG7:NM_001144912:exon12:c.T1295C:p.V432A,ATG7:NM_001349236:exon12:c.T1295C:p.V432A,ATG7:NM_001349237:exon12:c.T1253C:p.V418A,ATG7:NM_001349238:exon12:c.T479C:p.V160A,ATG7:NM_001136031:exon13:c.T1412C:p.V471A,ATG7:NM_006395:exon13:c.T1412C:p.V471A,ATG7:NM_001349233:exon14:c.T1412C:p.V471A,ATG7:NM_001349234:exon14:c.T1412C:p.V471A,ATG7:NM_001349235:exon14:c.T1412C:p.V471A,ATG7:NM_001349232:exon15:c.T1412C:p.V471A |
|
3 |
11643465 |
2 |
VGLL4 |
T |
C |
exonic |
nonsynonymous SNV |
VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M,VGLL4:NM_001284390:exon4:c.A111G:p.I37M |
RS2276749 |
Height:Aortic valve calcium |
|
3 |
12962074 |
1 |
IQSEC1 |
G |
A |
exonic |
nonsynonymous SNV |
IQSEC1:NM_001134382:exon6:c.C1876T:p.P626S,IQSEC1:NM_001330619:exon6:c.C1552T:p.P518S,IQSEC1:NM_014869:exon6:c.C1918T:p.P640S |
|
3 |
13361287 |
1 |
NUP210 |
C |
T |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon37:c.G5359A:p.V1787M |
RS354478 |
Eye color:HDL
cholesterol:Microalbuminuria:Serum concentration of indoleacetate |
|
3 |
13361391 |
2 |
NUP210 |
A |
G |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon37:c.T5255C:p.L1752S |
RS354479 |
HDL cholesterol:Autism without
verbal ability:HDL cholesterol:Triglycerides:Systolic blood pressure
(SBP):Advanced age-related macular degeneration:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:College completion |
|
3 |
13364876 |
1 |
NUP210 |
G |
T |
exonic |
synonymous SNV |
NUP210:NM_024923:exon34:c.C4701A:p.T1567T |
RS514084 |
Differential splicing of NUP210
[probeset 2663554] in lymphoblastoid cell lines |
|
3 |
13367406 |
1 |
NUP210 |
C |
T |
exonic |
synonymous SNV |
NUP210:NM_024923:exon33:c.G4533A:p.S1511S |
RS665064 |
Differential splicing of NUP210
[probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:HOMA-IR:HDL cholesterol:Body mass index (BMI):Microalbuminuria |
|
3 |
13368892 |
1 |
NUP210 |
G |
A |
exonic |
synonymous SNV |
NUP210:NM_024923:exon32:c.C4332T:p.C1444C |
RS2271509 |
Differential splicing of NUP210
[probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:HDL
cholesterol:Body mass index (BMI):Microalbuminuria |
|
3 |
13379400 |
1 |
NUP210 |
C |
T |
exonic |
synonymous SNV |
NUP210:NM_024923:exon26:c.G3489A:p.E1163E |
RS3773302 |
Gene expression of NUP210
(ENSG00000132182) in dendritic cells |
|
3 |
13383540 |
1 |
NUP210 |
A |
G |
exonic |
synonymous SNV |
NUP210:NM_024923:exon22:c.T3048C:p.F1016F |
RS2271504 |
Differential splicing of NUP210
[probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria |
|
3 |
13395475 |
1 |
NUP210 |
G |
C |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon17:c.C2461G:p.P821A |
RS2280085 |
Adiponectin levels |
|
3 |
13395579 |
1 |
NUP210 |
C |
A |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon17:c.G2357T:p.R786L |
RS2280084 |
Eye color:LDL cholesterol:HDL
cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria:Serum
ratio of (5-oxoproline)/(stearoylcarnitine):Resistance to kuru in aged women
despite likely exposure:Schizophrenia |
|
3 |
13407556 |
1 |
NUP210 |
T |
C |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon14:c.A1822G:p.I608V |
RS3732671 |
Differential splicing of NUP210
[probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria |
|
3 |
13421150 |
1 |
NUP210 |
C |
T |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon7:c.G889A:p.A297T |
RS7628051 |
Eye color:Differential splicing of
NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:Body mass index (BMI):Microalbuminuria:Resistance to kuru in aged
women despite likely exposure |
|
3 |
14187449 |
1 |
XPC |
G |
T |
exonic |
nonsynonymous SNV |
XPC:NM_004628:exon16:c.C2815A:p.Q939K |
RS2228001 |
Stabilized warfarin dose:Serum
creatinine:Serum concentration of 1-palmitoylglycerophosphoethanolamine |
|
3 |
14197987 |
2 |
XPC |
A |
T |
exonic |
synonymous SNV |
XPC:NM_004628:exon10:c.T1881A:p.A627A |
|
3 |
14199887 |
1 |
XPC |
G |
A |
exonic |
nonsynonymous SNV |
XPC:NM_004628:exon9:c.C1496T:p.A499V |
RS2228000 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Rheumatoid arthritis:Microalbuminuria |
|
3 |
15737689 |
2 |
ANKRD28 |
G |
A |
exonic |
synonymous SNV |
ANKRD28:NM_001195099:exon13:c.C1059T:p.N353N,ANKRD28:NM_001349280:exon14:c.C1353T:p.N451N,ANKRD28:NM_001195098:exon15:c.C1059T:p.N353N,ANKRD28:NM_001349277:exon15:c.C1620T:p.N540N,ANKRD28:NM_001349278:exon15:c.C1611T:p.N537N,ANKRD28:NM_001349281:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349282:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349283:exon15:c.C1059T:p.N353N,ANKRD28:NM_015199:exon15:c.C1521T:p.N507N,ANKRD28:NM_001349279:exon16:c.C1512T:p.N504N |
|
3 |
15737698 |
2 |
ANKRD28 |
T |
C |
exonic |
synonymous SNV |
ANKRD28:NM_001195099:exon13:c.A1050G:p.Q350Q,ANKRD28:NM_001349280:exon14:c.A1344G:p.Q448Q,ANKRD28:NM_001195098:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_001349277:exon15:c.A1611G:p.Q537Q,ANKRD28:NM_001349278:exon15:c.A1602G:p.Q534Q,ANKRD28:NM_001349281:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349282:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349283:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_015199:exon15:c.A1512G:p.Q504Q,ANKRD28:NM_001349279:exon16:c.A1503G:p.Q501Q |
RS2470549 |
Gene expression of ANKRD28 [probe
229307_at] in lymphoblastoid cell lines:Fasting
insulin:HOMA-IR:HOMA-B:Cystatin C in serum:Gene expression of COLQ in
blood:Serum ratio of (dehydroisoandrosterone sulfate
(DHEA-S))/(epiandrosterone sulfate):Birth weight |
|
3 |
19992432 |
2 |
RAB5A |
G |
T |
exonic |
synonymous SNV |
RAB5A:NM_001292048:exon2:c.G42T:p.T14T,RAB5A:NM_004162:exon2:c.G42T:p.T14T |
|
3 |
25642676 |
1 |
TOP2B |
G |
T |
exonic |
synonymous SNV |
TOP2B:NM_001068:exon34:c.C4515A:p.A1505A,TOP2B:NM_001330700:exon34:c.C4530A:p.A1510A |
|
3 |
31789582 |
1 |
OSBPL10 |
T |
C |
exonic |
nonsynonymous SNV |
OSBPL10:NM_001174060:exon4:c.A568G:p.N190D,OSBPL10:NM_017784:exon5:c.A760G:p.N254D |
RS2290532 |
Fasting blood glucose:Late onset
Alzheimer's disease:Serum ratio of (1-palmitoylglycerol
(1-monopalmitin))/(taurodeoxycholate):Serum ratio of
(alpha-hydroxyisovalerate)/(cysteine-glutathione disulfide) |
|
3 |
32927509 |
2 |
TRIM71 |
G |
T |
exonic |
synonymous SNV |
TRIM71:NM_001039111:exon3:c.G1104T:p.T368T |
|
3 |
33055721 |
2 |
GLB1 |
A |
G |
exonic |
nonsynonymous SNV |
GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R |
|
3 |
33059981 |
1 |
GLB1 |
G |
A |
exonic |
nonsynonymous SNV |
GLB1:NM_001135602:exon10:c.C913T:p.L305F,GLB1:NM_000404:exon13:c.C1306T:p.L436F,GLB1:NM_001079811:exon13:c.C1216T:p.L406F,GLB1:NM_001317040:exon14:c.C1450T:p.L484F |
|
3 |
33138544 |
2 |
GLB1 |
A |
G |
exonic |
synonymous SNV |
GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L |
|
3 |
33138549 |
1 |
GLB1 |
G |
A |
exonic |
nonsynonymous SNV |
GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L,GLB1:NM_001317040:exon1:c.C29T:p.P10L |
RS7637099 |
Differential exon level expression
of CRTAP [probe 2616183] in peripheral blood mononuclear cells:Fasting blood
glucose:HDL cholesterol:LDL cholesterol change with statins:Methylation
levels at chr3:33114052-33114102 [hg18 coord, probe cg27034836] in Frontal
cortex:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or
6)])/(tetradecanedioate):Resistance to kuru in aged women despite likely
exposure:Gene expression of TMPPE in normal prepouch ileum |
|
3 |
33434831 |
2 |
UBP1 |
G |
A |
exonic |
synonymous SNV |
UBP1:NM_001128160:exon13:c.C1398T:p.T466T,UBP1:NM_014517:exon14:c.C1506T:p.T502T,UBP1:NM_001128161:exon15:c.C1506T:p.T502T |
RS2293250 |
Triglycerides:Triglycerides change
with statins:Serum creatinine:Parkinson's disease |
|
3 |
33458266 |
1 |
UBP1 |
T |
C |
exonic |
nonsynonymous SNV |
UBP1:NM_001128160:exon3:c.A326G:p.N109S,UBP1:NM_014517:exon3:c.A326G:p.N109S,UBP1:NM_001128161:exon4:c.A326G:p.N109S |
RS3736563 |
Longstanding arthritis:Differential
exon level expression of UBP1 [probe 2668396] in brain cortex:Lp-PLA2
mass:Neuroblastoma (brain cancer):Serum ratio of
(glycochenodeoxycholate)/(glycodeoxycholate):Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):PROP taste detection
threshold:Hypertension (early onset hypertension) |
|
3 |
38170810 |
1 |
ACAA1 |
C |
G |
exonic |
nonsynonymous SNV |
ACAA1:NM_001607:exon6:c.G516C:p.E172D |
RS156265 |
LDL cholesterol |
|
3 |
38401839 |
2 |
XYLB |
T |
C |
exonic |
synonymous SNV |
XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G |
|
3 |
39184959 |
2 |
CSRNP1 |
C |
T |
exonic |
nonsynonymous SNV |
CSRNP1:NM_001320559:exon5:c.G1417A:p.V473I,CSRNP1:NM_001320560:exon5:c.G1357A:p.V453I,CSRNP1:NM_033027:exon5:c.G1357A:p.V453I |
RS1274958 |
Gene expression of KIAA1449 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of WDR48 [probe
221735_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Gene expression of WDR48 in blood cells in Celiac disease:Gene
expression of WDR48 [probe ILMN_15679] in osteoblasts:Gene expression of
WDR48 in Cerebellum:Gene expression of WDR48 in Frontal cortex:Gene
expression of WDR48 in Temporal cortex:Gene expression of WDR48 in Caudal
pons:Gene expression of WDR48 in CD4+ lymphocytes:Asthma:Gene expression of
WDR48 [probe ILMN_15679] in osteoblasts treated with BMP2:Gene expression of
CX3CR1 in blood:Gene expression of WDR48///GORASP1 in blood:Gene expression
of WDR48 in liver:Gene expression of WDR48 (probeID ILMN_1762103) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of WDR48
(probeID ILMN_1762103) in cerebellum in non-Alzheimer's disease samples:Gene
expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in
cerebellum in Alzheimer's disease cases:Hypertension (early onset
hypertension):Gene expression of WDR48 (probeID ILMN_1762103) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of WDR48
(probeID ILMN_1762103) in temporal cortex in Alzheimer's disease
cases:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in
cerebellum in Progressive Supranuclear Palsy cases |
3 |
39185248 |
2 |
CSRNP1 |
A |
G |
exonic |
synonymous SNV |
CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S |
RS784519 |
Gene expression of WDR48 (probeID
ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's
disease cases and controls:Adiponectin levels:Gene expression of WDR48
(probeID ILMN_1762103) in whole blood |
|
3 |
42236415 |
2 |
TRAK1 |
A |
G |
exonic |
synonymous SNV |
TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_001349248:exon9:c.A873G:p.S291S,TRAK1:NM_001349249:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S,TRAK1:NM_001349245:exon10:c.A783G:p.S261S,TRAK1:NM_001349246:exon10:c.A1095G:p.S365S,TRAK1:NM_001349247:exon10:c.A1095G:p.S365S |
RS9851455 |
Serum creatinine |
|
3 |
42244083 |
1 |
TRAK1 |
C |
T |
exonic |
nonsynonymous SNV |
TRAK1:NM_001265609:exon12:c.C1361T:p.A454V,TRAK1:NM_001265610:exon12:c.C1361T:p.A454V,TRAK1:NM_001349248:exon12:c.C1361T:p.A454V,TRAK1:NM_001349249:exon12:c.C1361T:p.A454V,TRAK1:NM_014965:exon12:c.C1409T:p.A470V,TRAK1:NM_001042646:exon13:c.C1583T:p.A528V,TRAK1:NM_001265608:exon13:c.C1583T:p.A528V,TRAK1:NM_001349245:exon13:c.C1271T:p.A424V,TRAK1:NM_001349246:exon13:c.C1583T:p.A528V,TRAK1:NM_001349247:exon13:c.C1583T:p.A528V |
|
3 |
42251329 |
2 |
TRAK1 |
C |
T |
exonic |
synonymous SNV |
TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_001349248:exon13:c.C1593T:p.P531P,TRAK1:NM_001349249:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P,TRAK1:NM_001349245:exon14:c.C1503T:p.P501P,TRAK1:NM_001349246:exon14:c.C1815T:p.P605P,TRAK1:NM_001349247:exon14:c.C1815T:p.P605P |
RS2290133 |
Aortic valve calcium |
|
3 |
43345175 |
1 |
SNRK |
G |
A |
exonic |
synonymous SNV |
SNRK:NM_001100594:exon2:c.G480A:p.G160G,SNRK:NM_017719:exon3:c.G480A:p.G160G |
RS17406308 |
HDL cholesterol |
|
3 |
43602803 |
2 |
ANO10 |
C |
T |
exonic |
nonsynonymous SNV |
ANO10:NM_001204833:exon7:c.G1052A:p.R351Q,ANO10:NM_001204832:exon8:c.G1187A:p.R396Q,ANO10:NM_001204834:exon8:c.G815A:p.R272Q,ANO10:NM_001346466:exon8:c.G1187A:p.R396Q,ANO10:NM_001346469:exon8:c.G1187A:p.R396Q,ANO10:NM_001204831:exon9:c.G1385A:p.R462Q,ANO10:NM_001346463:exon9:c.G1385A:p.R462Q,ANO10:NM_001346464:exon9:c.G1385A:p.R462Q,ANO10:NM_001346465:exon9:c.G1385A:p.R462Q,ANO10:NM_001346467:exon9:c.G1385A:p.R462Q,ANO10:NM_001346468:exon9:c.G1385A:p.R462Q,ANO10:NM_018075:exon9:c.G1385A:p.R462Q |
RS3772165 |
HDL cholesterol:Serum
creatinine:Triglycerides:Parkinson's disease |
|
3 |
44611913 |
1 |
ZKSCAN7 |
A |
G |
exonic |
synonymous SNV |
ZKSCAN7:NM_001288592:exon5:c.A858G:p.K286K,ZKSCAN7:NM_001288590:exon6:c.A1311G:p.K437K,ZKSCAN7:NM_018651:exon6:c.A1311G:p.K437K |
|
3 |
44884647 |
2 |
KIF15 |
C |
A |
exonic |
nonsynonymous SNV |
KIF15:NM_020242:exon30:c.C3616A:p.L1206M |
RS3804583 |
Irritible bowel syndrome:Gene
expression of ZNF197 in peripheral blood monocytes:Gene expression of ZNF167
in peripheral blood monocytes:Gene expression of ZNF502 in peripheral blood
monocytes:Gene expression of TMEM42 in peripheral blood monocytes:Total
cholesterol:Late onset Alzheimer's disease:Gene expression of ZNF502 in
blood:Serum ratio of (acetylcarnitine)/(gamma-glutamylisoleucine*):Gene
expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in
normal prepouch ileum |
|
3 |
45052775 |
1 |
EXOSC7 |
G |
C |
exonic |
nonsynonymous SNV |
EXOSC7:NM_015004:exon8:c.G820C:p.V274L |
RS6794 |
Gene expression of KIAA0116 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL
cholesterol:Triglycerides:Handedness in individuals with dyslexia (PegQ
test):Alanine/N,N-dimethylglycine ratio |
|
3 |
45527218 |
2 |
LARS2 |
T |
C |
exonic |
synonymous SNV |
LARS2:NM_015340:exon11:c.T1053C:p.L351L |
RS7610357 |
Triglycerides |
|
3 |
45533224 |
2 |
LARS2 |
G |
A |
exonic |
synonymous SNV |
LARS2:NM_015340:exon13:c.G1455A:p.A485A |
RS2128361 |
Irritible bowel
syndrome:Transmission distortion:Maternal transmission distortion |
|
3 |
45559519 |
2 |
LARS2 |
T |
C |
exonic |
synonymous SNV |
LARS2:NM_015340:exon18:c.T2169C:p.A723A |
RS2170549 |
Adiponectin levels |
|
3 |
45565554 |
2 |
LARS2 |
A |
G |
exonic |
synonymous SNV |
LARS2:NM_015340:exon20:c.A2358G:p.V786V |
|
3 |
45637239 |
1 |
LIMD1 |
G |
T |
exonic |
nonsynonymous SNV |
LIMD1:NM_014240:exon1:c.G868T:p.V290F |
|
3 |
45637253 |
2 |
LIMD1 |
C |
T |
exonic |
synonymous SNV |
LIMD1:NM_014240:exon1:c.C882T:p.T294T |
|
3 |
45637439 |
2 |
LIMD1 |
T |
C |
exonic |
synonymous SNV |
LIMD1:NM_014240:exon1:c.T1068C:p.G356G |
RS267236 |
Total cholesterol:Serum
creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP) |
|
3 |
46009864 |
1 |
FYCO1 |
C |
G |
exonic |
nonsynonymous SNV |
FYCO1:NM_024513:exon8:c.G962C:p.G321A |
|
3 |
47018214 |
2 |
CCDC12 |
T |
C |
exonic |
synonymous SNV |
CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A |
|
3 |
47036756 |
1 |
NBEAL2 |
C |
G |
exonic |
nonsynonymous SNV |
NBEAL2:NM_015175:exon13:c.C1531G:p.R511G |
RS11720139 |
Gene expression of KLHL18 [probe
1557165_s_at] in lymphoblastoid cell lines:Total
cholesterol:Alanine/N,N-dimethylglycine ratio:Adiponectin levels |
|
3 |
47038054 |
1 |
NBEAL2 |
G |
A |
exonic |
synonymous SNV |
NBEAL2:NM_015175:exon16:c.G2445A:p.A815A |
|
3 |
47043238 |
1 |
NBEAL2 |
C |
T |
exonic |
synonymous SNV |
NBEAL2:NM_015175:exon30:c.C4704T:p.N1568N |
RS12489851 |
HDL cholesterol:Aortic valve calcium |
|
3 |
47043622 |
1 |
NBEAL2 |
G |
A |
exonic |
synonymous SNV |
NBEAL2:NM_015175:exon31:c.G4995A:p.V1665V |
RS2305635 |
Total cholesterol:HDL
cholesterol:Alanine/N,N-dimethylglycine ratio:Adiponectin levels |
|
3 |
47049345 |
1 |
NBEAL2 |
A |
G |
exonic |
nonsynonymous SNV |
NBEAL2:NM_015175:exon49:c.A7547G:p.Y2516C |
|
3 |
47162661 |
1 |
SETD2 |
A |
G |
exonic |
synonymous SNV |
SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N |
RS6767907 |
Gene expression of DHX30 in JPT
lymphoblastoid cell lines:Neuroticism:Total cholesterol:HDL
cholesterol:Alanine/N,N-dimethylglycine ratio:Serum ratio of
(1-methylurate)/(arabinose):Systolic blood pressure (SBP):Bipolar
disorder:Adiponectin levels |
|
3 |
47162886 |
1 |
SETD2 |
C |
T |
exonic |
nonsynonymous SNV |
SETD2:NM_001349370:exon2:c.G3108A:p.M1036I,SETD2:NM_014159:exon3:c.G3240A:p.M1080I |
|
3 |
47449058 |
2 |
PTPN23 |
T |
C |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T |
|
3 |
47452087 |
2 |
PTPN23 |
G |
A |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P |
|
3 |
47452118 |
1 |
PTPN23 |
G |
A |
exonic |
nonsynonymous SNV |
PTPN23:NM_001304482:exon19:c.G2452A:p.A818T,PTPN23:NM_015466:exon20:c.G2830A:p.A944T |
RS6780013 |
Gene expression of KLHL18 [probe
1557165_s_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Gene expression of KIF9 [transcript NM_182902, probe
A_24_P225878] in liver:Gene expression of PTPN23///SCAP in blood:Serum ratio
of (4-vinylphenol sulfate)/(cysteine-glutathione disulfide):Adiponectin
levels:Gene expression of PTPN23 (ENSG00000076201) in dendritic cells treated
with Mycobacterium tuberculosis |
|
3 |
47453417 |
1 |
PTPN23 |
C |
T |
exonic |
nonsynonymous SNV |
PTPN23:NM_001304482:exon20:c.C3655T:p.R1219C,PTPN23:NM_015466:exon21:c.C4033T:p.R1345C |
|
3 |
47462200 |
2 |
SCAP |
T |
C |
exonic |
synonymous SNV |
SCAP:NM_001320044:exon9:c.A642G:p.G214G,SCAP:NM_012235:exon12:c.A1407G:p.G469G |
|
3 |
48309812 |
1 |
ZNF589 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF589:NM_016089:exon4:c.G631A:p.G211R |
|
3 |
48456706 |
1 |
PLXNB1 |
G |
A |
exonic |
nonsynonymous SNV |
PLXNB1:NM_001130082:exon20:c.C3845T:p.T1282M,PLXNB1:NM_002673:exon20:c.C3845T:p.T1282M |
|
3 |
48461313 |
1 |
PLXNB1 |
C |
G |
exonic |
synonymous SNV |
PLXNB1:NM_001130082:exon11:c.G2382C:p.P794P,PLXNB1:NM_002673:exon11:c.G2382C:p.P794P |
RS2362450 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Serum
creatinine:Triglycerides:Waist hip ratio |
|
3 |
48474249 |
1 |
CCDC51 |
A |
G |
exonic |
synonymous SNV |
CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L |
RS2279077 |
HDL cholesterol:Fasting blood
glucose:LDL cholesterol change with statins:Total cholesterol change with
statins:Parkinson's disease:Gene expression of CCDC72 in normal prepouch
ileum |
|
3 |
48476431 |
2 |
CCDC51 |
C |
G |
exonic |
synonymous SNV |
CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L |
|
3 |
48625266 |
2 |
COL7A1 |
T |
C |
exonic |
synonymous SNV |
COL7A1:NM_000094:exon21:c.A2817G:p.P939P |
RS1264194 |
Total cholesterol:Waist hip
ratio:Aortic valve calcium:Years of education:Adiponectin levels |
|
3 |
48727112 |
2 |
IP6K2 |
G |
A |
exonic |
synonymous SNV |
IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y |
RS4858798 |
Gene expression of NCKIPSD in
liver:Irritible bowel syndrome:Tardive dyskinesia:Gene expression of NICN1 in
peripheral blood monocytes:Gene expression of QRICH1 in peripheral blood
monocytes:Gene expression of NCKIPSD in peripheral blood monocytes:Gene expression
of PH-4 in peripheral blood monocytes:Gene expression of SCML1 in peripheral
blood monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene
expression of INHBE in peripheral blood monocytes:Gene expression of AMT in
peripheral blood monocytes:Triglycerides:Waist hip ratio:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Paternal transmission distortion |
|
3 |
49050922 |
1 |
WDR6 |
A |
G |
exonic |
nonsynonymous SNV |
WDR6:NM_001320546:exon2:c.A1877G:p.N626S,WDR6:NM_001320547:exon2:c.A1802G:p.N601S,WDR6:NM_018031:exon2:c.A2045G:p.N682S |
|
3 |
49054692 |
2 |
DALRD3 |
T |
C |
exonic |
nonsynonymous SNV |
DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R |
RS3087866 |
Stabilized warfarin dose:Total
cholesterol:LDL cholesterol:Gene expression of NCKIPSD in peripheral blood
monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene
expression of QRICH1 in peripheral blood monocytes:Gene expression of NICN1
in peripheral blood monocytes:Gene expression of AMT in peripheral blood
monocytes:Gene expression of PH-4 in peripheral blood
monocytes:Triglycerides:Waist hip ratio:Gene expression of IMPDH2///QRICH1 in
blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in
blood:Serum ratio of (bradykinin, des-arg(9))/(cystine):PROP taste detection
threshold:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Paternal transmission distortion:Years of
education:Adiponectin levels |
|
3 |
49161660 |
1 |
LAMB2 |
T |
C |
exonic |
synonymous SNV |
LAMB2:NM_002292:exon23:c.A3387G:p.Q1129Q |
|
3 |
49162284 |
1 |
LAMB2 |
C |
T |
exonic |
nonsynonymous SNV |
LAMB2:NM_002292:exon21:c.G2959A:p.E987K |
|
3 |
49200627 |
2 |
CCDC71 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC71:NM_022903:exon2:c.T1015C:p.W339R |
RS4955418 |
Irritible bowel syndrome:Premature
ovarian failure:Chronic lymphocytic leukemia/small lymphocytic lymphoma:Waist
hip ratio:Gene expression of TCTA [probe ILMN_19788] in osteoblasts treated
with PGE2:Gene expression of C3orf60 in blood:Gene expression of C3orf62///USP4
in blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in
blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of CCDC36 in normal
prepouch ileum:Advanced age-related macular degeneration:Gene expression of
WDR6 in normal prepouch ileum:Birth weight:Transmission distortion |
|
3 |
49200692 |
2 |
CCDC71 |
T |
A |
exonic |
nonsynonymous SNV |
CCDC71:NM_022903:exon2:c.A950T:p.Q317L |
RS4955419 |
Waist hip ratio:Advanced
age-related macular degeneration:Birth weight:Advanced age-related macular
degeneration (geographic atrophy) |
|
3 |
49339833 |
1 |
USP4 |
T |
C |
exonic |
nonsynonymous SNV |
USP4:NM_199443:exon9:c.A1130G:p.N377S,USP4:NM_003363:exon10:c.A1271G:p.N424S |
|
3 |
49394834 |
1 |
GPX1 |
G |
A |
exonic |
nonsynonymous SNV |
GPX1:NM_001329455:exon2:c.C461T:p.P154L |
|
3 |
49455330 |
1 |
AMT |
C |
T |
exonic |
synonymous SNV |
AMT:NM_001164710:exon7:c.G822A:p.R274R,AMT:NM_001164711:exon7:c.G786A:p.R262R,AMT:NM_000481:exon8:c.G954A:p.R318R,AMT:NM_001164712:exon8:c.G954A:p.R318R |
RS11715915 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:PC aa C42:2:PC aa C40:2 /
Tyr-PTC:HOMA-IR:Fasting insulin:Fasting blood glucose:Total cholesterol:Serum
creatinine:Gene expression of APEH in peripheral blood monocytes:Gene
expression of CAMSAP1 in peripheral blood monocytes:Gene expression of USP4
in peripheral blood monocytes:Gene expression of ATRIP in peripheral blood
monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene
expression of GPX1 in peripheral blood monocytes:Gene expression of UBA7 in
peripheral blood monocytes:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):College completion:Coronary artery disease (CAD):Fasting
insulin:Years of education:Fasting blood glucose:2-hour glucose tolerance
test |
|
3 |
49459553 |
1 |
AMT |
A |
G |
exonic |
nonsynonymous SNV |
AMT:NM_000481:exon2:c.T242C:p.V81A,AMT:NM_001164710:exon2:c.T242C:p.V81A,AMT:NM_001164712:exon2:c.T242C:p.V81A |
|
3 |
49548008 |
2 |
DAG1 |
C |
G |
exonic |
nonsynonymous SNV |
DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W |
|
3 |
49570200 |
1 |
DAG1 |
C |
T |
exonic |
synonymous SNV |
DAG1:NM_001177639:exon3:c.C2256T:p.H752H,DAG1:NM_001177643:exon3:c.C2256T:p.H752H,DAG1:NM_001177644:exon3:c.C2256T:p.H752H,DAG1:NM_004393:exon3:c.C2256T:p.H752H,DAG1:NM_001177635:exon4:c.C2256T:p.H752H,DAG1:NM_001177637:exon4:c.C2256T:p.H752H,DAG1:NM_001177638:exon4:c.C2256T:p.H752H,DAG1:NM_001177640:exon4:c.C2256T:p.H752H,DAG1:NM_001177641:exon4:c.C2256T:p.H752H,DAG1:NM_001177642:exon4:c.C2256T:p.H752H,DAG1:NM_001177636:exon5:c.C2256T:p.H752H,DAG1:NM_001165928:exon6:c.C2256T:p.H752H,DAG1:NM_001177634:exon6:c.C2256T:p.H752H |
RS1801143 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:Biploar disorder (bipolar schizoaffective
disorder):HOMA-IR:Fasting blood glucose:Fasting insulin:Total cholesterol:LDL
cholesterol:Gene expression of GPX1 [probe 200736_s_at] in prefrontal
cortex:Serum creatinine:Gene expression of APEH in peripheral blood
monocytes:Gene expression of USP4 in peripheral blood monocytes:Gene
expression of GPX1 in peripheral blood monocytes:Gene expression of UBA7 in
peripheral blood monocytes:Gene expression of ATRIP in peripheral blood
monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene
expression of RBM6 in peripheral blood monocytes:Serum concentration of
inosine:Systolic blood pressure (SBP):Birth weight:Maternal transmission
distortion:College completion:Years of education |
|
3 |
49721532 |
1 |
MST1 |
G |
A |
exonic |
nonsynonymous SNV |
MST1:NM_020998:exon18:c.C2107T:p.R703C |
RS3197999 |
Eye color:Irritible bowel
syndrome:Crohn's disease:Differential exon level expression of APEH [probe
2622214] in peripheral blood mononuclear cells:Differential exon level
expression of APEH [probe 2622214] in brain cortex:Differential exon level
expression of BSN [probe 2622187] in brain cortex:Premature ovarian
failure:Irritable bowel disorder:Ulcerative colitis:Crohn's disease:Primary
sclerosing cholangitis (with inflammatory bowel disease):Primary sclerosing
cholangitis:HOMA-IR:Fasting blood glucose:Asthma:Ulcerative
colitis:Ulcerative colitis:Total cholesterol:Serum creatinine:Cardiac
neonatal lupus:Selective immunoglobulin A deficiency (IgAD):Crohn's
disease:Crohn's disease:Primary sclerosing cholangitis:Crohn's
disease:Ulcerative colitis:MST1 gene expression in subcutaneous adipose
tissue:Gene expression of C3orf54///UBA7 in blood:Gene expression of
MST1///APEH in blood:Gene expression of RNF123///AMIGO3///GMPPB in blood:Gene
expression of IGFBP7 in normal prepouch ileum:Gene expression of VPS37C in
normal prepouch ileum:Gene expression of RAD23A in normal prepouch ileum:Gene
expression of WDR12 in normal prepouch ileum:Gene expression of CTNND1 in
normal prepouch ileum:Gene expression of FBXO36 in normal prepouch ileum:Gene
expression of THG1L in normal prepouch ileum:Gene expression of CCDC27 in
normal prepouch ileum:Gene expression of UXS1 in normal prepouch ileum:Gene
expression of MEIS3 in normal prepouch ileum:Gene expression of NR2E3 in
normal prepouch ileum:Gene expression of DENND5A in normal prepouch
ileum:Gene expression of CAMK2A in normal prepouch ileum:Gene expression of
C21orf33 in normal prepouch ileum:Gene expression of DPH2 in normal prepouch
ileum:Gene expression of ACSBG2 in normal prepouch ileum:Gene expression of
THTPA in normal prepouch ileum:Gene expression of METTL13 in normal prepouch
ileum:Gene expression of C1orf109 in normal prepouch ileum:Gene expression of
UBE2Q2 in normal prepouch ileum:Gene expression of SERPINA6 in normal
prepouch ileum:Gene expression of DSG1 in normal prepouch ileum:Gene
expression of SSBP1 in normal prepouch ileum:Gene expression of PPM1F in
normal prepouch ileum:Gene expression of VWA1 in normal prepouch ileum:Gene
expression of OR7E14P in normal prepouch ileum:Gene expression of COMMD7 in
normal prepouch ileum:Gene expression of TAL2 in normal prepouch ileum:Gene
expression of PPARD in normal prepouch ileum:Gene expression of AFAP1L1 in
normal prepouch ileum:Gene expression of FAM75D5 in normal prepouch
ileum:Gene expression of MYOG in normal prepouch ileum:College
completion:Gene expression of LHB in normal prepouch ileum:Gene expression of
FOXQ1 in normal prepouch ileum:Gene expression of DMRT2 in normal prepouch
ileum:Gene expression of M6PR in normal prepouch ileum:Gene expression of
ARL6IP5 in normal prepouch ileum:Gene expression of IQUB in normal prepouch
ileum:Gene expression of C14orf21 in normal prepouch ileum:Gene expression of
SPATA21 in normal prepouch ileum:Gene expression of BCAP29 in normal prepouch
ileum:Gene expression of UBA2 in normal prepouch ileum:Gene expression of
SBSN in normal prepouch ileum:Gene expression of ANKRD30BL in normal prepouch
ileum:Gene expression of ZNF541 in normal prepouch ileum:Gene expression of
ZNF843 in normal prepouch ileum:Gene expression of C16orf88 in normal
prepouch ileum:Gene expression of CSRP1 in normal prepouch ileum:Gene
expression of KCNK12 in normal prepouch ileum:Gene expression of LRFN2 in
normal prepouch ileum:Gene expression of DOC2B in normal prepouch ileum:Gene
expression of RPL22 in normal prepouch ileum:Gene expression of MYH16 in
normal prepouch ileum:Gene expression of INTS10 in normal prepouch ileum:Gene
expression of C19orf26 in normal prepouch ileum:Gene expression of MGC16703
in normal prepouch ileum:Gene expression of ASB15 in normal prepouch
ileum:Gene expression of SPON2 in normal prepouch ileum:Gene expression of
IDH3B in normal prepouch ileum:Gene expression of SLC30A3 in normal prepouch
ileum:Gene expression of C1orf216 in normal prepouch ileum:Gene expression of
NOS1AP in normal prepouch ileum:Gene expression of MOV10L1 in normal prepouch
ileum:Gene expression of SLC38A4 in normal prepouch ileum:Gene expression of
KLF4 in normal prepouch ileum:Gene expression of MEOX1 in normal prepouch
ileum:Gene expression of FAM20C in normal prepouch ileum:Gene expression of
ATP6AP1L in normal prepouch ileum:Gene expression of CABP2 in normal prepouch
ileum:Gene expression of C9orf30 in normal prepouch ileum:Gene expression of
SHROOM1 in normal prepouch ileum:Gene expression of KIAA0319 in normal
prepouch ileum:Inflammatory bowel disease:Gene expression of FOLR2 in normal
prepouch ileum:Gene expression of ZNF646 in normal prepouch ileum:Gene
expression of CLEC1B in normal prepouch ileum:Gene expression of KIAA1524 in
normal prepouch ileum:Gene expression of KCNH1 in normal prepouch ileum:Gene
expression of KRT2 in normal prepouch ileum:Gene expression of OLFM1 in
normal prepouch ileum:Gene expression of CYP21A2 in normal prepouch
ileum:Gene expression of BPIL2 in normal prepouch ileum:Gene expression of
DCAF5 in normal prepouch ileum:Gene expression of WDR66 in normal prepouch
ileum:Gene expression of C8orf22 in normal prepouch ileum:Gene expression of
OR4D11 in normal prepouch ileum:Gene expression of C7orf34 in normal prepouch
ileum:Gene expression of FBXO5 in normal prepouch ileum:Gene expression of
FER1L6 in normal prepouch ileum:Gene expression of MYO7A in normal prepouch
ileum:Gene expression of SERPINB13 in normal prepouch ileum:Gene expression
of FSCN1 in normal prepouch ileum:Gene expression of OVGP1 in normal prepouch
ileum:Gene expression of PLEKHG4B in normal prepouch ileum:Gene expression of
PCP2 in normal prepouch ileum:Gene expression of RAB42 in normal prepouch
ileum:Gene expression of MRPS18B in normal prepouch ileum:Gene expression of
RPUSD4 in normal prepouch ileum:Gene expression of TFAM in normal prepouch
ileum:Gene expression of EID1 in normal prepouch ileum:Gene expression of
USP13 in normal prepouch ileum:Gene expression of ZNF200 in normal prepouch
ileum:Gene expression of SLCO5A1 in normal prepouch ileum:Gene expression of
DNAH10 in normal prepouch ileum:Gene expression of OR3A4 in normal prepouch
ileum:Gene expression of OR5AN1 in normal prepouch ileum:Gene expression of
CECR2 in normal prepouch ileum:Gene expression of DDIT4 in normal prepouch
ileum:Gene expression of STELLAR in normal prepouch ileum:Gene expression of
PPP1R15B in normal prepouch ileum:Gene expression of SMCR5 in normal prepouch
ileum:Gene expression of TMEM90A in normal prepouch ileum:Gene expression of
BZW2 in normal prepouch ileum:Gene expression of QPCT in normal prepouch
ileum:Gene expression of PRMT8 in normal prepouch ileum:Gene expression of
GABRA6 in normal prepouch ileum:Gene expression of ISM2 in normal prepouch
ileum:Gene expression of BRD1 in normal prepouch ileum:Gene expression of
RNF144B in normal prepouch ileum:Gene expression of CLRN2 in normal prepouch
ileum:Gene expression of HERC2 in normal prepouch ileum:Gene expression of
ADAMTSL3 in normal prepouch ileum:Gene expression of C10orf32 in normal
prepouch ileum:Gene expression of MIR205 in normal prepouch ileum:Gene
expression of ATG12 in normal prepouch ileum:Gene expression of MRPS35 in
normal prepouch ileum:Gene expression of ORC5 in normal prepouch ileum:Gene
expression of MAMDC4 in normal prepouch ileum:Gene expression of OR4H12P in
normal prepouch ileum:Gene expression of FAM78B in normal prepouch ileum:Gene
expression of RAD1 in normal prepouch ileum:Gene expression of LYZL4 in normal
prepouch ileum:Gene expression of BHMT in normal prepouch ileum:Gene
expression of CAMTA2 in normal prepouch ileum:Gene expression of C1QTNF8 in
normal prepouch ileum:Gene expression of SUMO2 in normal prepouch ileum:Gene
expression of KIAA1614 in normal prepouch ileum:Gene expression of KCNA10 in
normal prepouch ileum:Gene expression of CDKL3 in normal prepouch ileum:Gene
expression of C11orf30 in normal prepouch ileum:Gene expression of SLFNL1 in
normal prepouch ileum:Gene expression of OR10G7 in normal prepouch ileum:Gene
expression of SLC41A3 in normal prepouch ileum:Gene expression of PAPOLB in
normal prepouch ileum:Gene expression of VPS25 in normal prepouch ileum:Gene
expression of ACP1 in normal prepouch ileum:Gene expression of NCR2 in normal
prepouch ileum:Gene expression of IGFL2 in normal prepouch ileum:Gene
expression of C19orf42 in normal prepouch ileum:Gene expression of EPB42 in
normal prepouch ileum:Gene expression of SNORD49A in normal prepouch
ileum:Gene expression of DNASE2 in normal prepouch ileum:Gene expression of
DEFB123 in normal prepouch ileum:Gene expression of MND1 in normal prepouch
ileum:Gene expression of OR2Z1 in normal prepouch ileum:Gene expression of
SNORA70G in normal prepouch ileum:Gene expression of FXC1 in normal prepouch
ileum:Gene expression of MGLL in normal prepouch ileum:Gene expression of
VPS72 in normal prepouch ileum:Gene expression of FLJ32154 in normal prepouch
ileum:Gene expression of HMBS in normal prepouch ileum:Gene expression of
SF3B4 in normal prepouch ileum:Gene expression of C12orf69 in normal prepouch
ileum:Gene expression of GORASP1 in normal prepouch ileum:Primary sclerosing
cholangitis:Gene expression of MRPS21 in normal prepouch ileum:Gene
expression of CPA1 in normal prepouch ileum:Gene expression of DEFB124 in
normal prepouch ileum:Gene expression of GPR149 in normal prepouch ileum:Gene
expression of GUSB in normal prepouch ileum:Gene expression of C5orf44 in
normal prepouch ileum:Gene expression of KIAA1755 in normal prepouch ileum:Gene
expression of IMPA2 in normal prepouch ileum:Gene expression of TMEM208 in
normal prepouch ileum:Gene expression of ZNF582 in normal prepouch ileum:Gene
expression of COG1 in normal prepouch ileum:Gene expression of COMMD1 in
normal prepouch ileum:Gene expression of LIN9 in normal prepouch ileum:Gene
expression of PIP in normal prepouch ileum:Gene expression of RUNDC2A in
normal prepouch ileum:Gene expression of OR2Y1 in normal prepouch ileum:Gene
expression of OR52W1 in normal prepouch ileum:Gene expression of PRM3 in
normal prepouch ileum:Gene expression of C7orf45 in normal prepouch
ileum:Gene expression of SH2B2 in normal prepouch ileum:Gene expression of
FAM99A in normal prepouch ileum:Gene expression of ZBTB7B in normal prepouch
ileum:Gene expression of FSHR in normal prepouch ileum:Gene expression of
C1orf57 in normal prepouch ileum:Gene expression of COL23A1 in normal
prepouch ileum:Gene expression of RFPL2 in normal prepouch ileum:Gene
expression of SNORD50A in normal prepouch ileum:Gene expression of MKS1 in
normal prepouch ileum:Gene expression of MFSD6 in normal prepouch ileum:Gene
expression of TNFRSF17 in normal prepouch ileum:Gene expression of DNAJC8 in
normal prepouch ileum:Gene expression of MIR132 in normal prepouch ileum:Gene
expression of CELA1 in normal prepouch ileum:Gene expression of PAFAH1B1 in
normal prepouch ileum:Gene expression of LHFPL3 in normal prepouch ileum:Gene
expression of NMT1 in normal prepouch ileum:Gene expression of ULK2 in normal
prepouch ileum:Gene expression of CAMK1G in normal prepouch ileum:Gene
expression of TPRKB in normal prepouch ileum:Gene expression of MRPL44 in
normal prepouch ileum:Gene expression of FAM72D in normal prepouch ileum:Gene
expression of MIR487A in normal prepouch ileum:Gene expression of ZNHIT3 in
normal prepouch ileum:Gene expression of NETO2 in normal prepouch ileum:Gene
expression of CLCN6 in normal prepouch ileum:Gene expression of STRA6 in
normal prepouch ileum:Gene expression of ANKHD1-EIF4EBP3 in normal prepouch ileum:Gene
expression of HAP1 in normal prepouch ileum:Gene expression of ADAMTSL5 in
normal prepouch ileum:Gene expression of N4BP3 in normal prepouch ileum:Gene
expression of KRTAP5-6 in normal prepouch ileum:Gene expression of TNFRSF11A
in normal prepouch ileum:Gene expression of SLC17A3 in normal prepouch
ileum:Gene expression of IL1RN in normal prepouch ileum:Gene expression of
FLJ45079 in normal prepouch ileum:Gene expression of IFT122 in normal
prepouch ileum:Gene expression of CDSN in normal prepouch ileum:Gene
expression of TLR5 in normal prepouch ileum:Gene expression of LOC200261 in
normal prepouch ileum:Gene expression of GNRHR in normal prepouch
ileum:Salmonella-induced pyroptosis:Gene expression of FMO3 in normal
prepouch ileum:Gene expression of KRTAP5-2 in normal prepouch ileum:Gene
expression of OPALIN in normal prepouch ileum:Gene expression of TGM4 in
normal prepouch ileum:Gene expression of XIRP2 in normal prepouch ileum:Gene
expression of SKA2 in normal prepouch ileum:Gene expression of RGS20 in
normal prepouch ileum:Gene expression of KRT27 in normal prepouch ileum:Gene
expression of PAX2 in normal prepouch ileum:Gene expression of RAB38 in
normal prepouch ileum:Gene expression of C21orf57 in normal prepouch
ileum:Gene expression of GGNBP1 in normal prepouch ileum:Gene expression of
MCF2L in normal prepouch ileum:Gene expression of TWIST1 in normal prepouch
ileum:Gene expression of KRTAP1-3 in normal prepouch ileum:Gene expression of
LANCL2 in normal prepouch ileum:Gene expression of PDHB in normal prepouch
ileum:Gene expression of TCF25 in normal prepouch ileum:Gene expression of
SLC12A8 in normal prepouch ileum:Gene expression of WDR8 in normal prepouch
ileum:Gene expression of TRPM1 in normal prepouch ileum:Gene expression of
OVOL3 in normal prepouch ileum:Gene expression of LOC100130507 in normal
prepouch ileum:Gene expression of CTSH in normal prepouch ileum:Gene
expression of AFG3L1P in normal prepouch ileum:Gene expression of RBX1 in
normal prepouch ileum:Gene expression of KLK2 in normal prepouch ileum:Gene
expression of KCMF1 in normal prepouch ileum:Gene expression of TBC1D14 in
normal prepouch ileum:Gene expression of ZNF648 in normal prepouch ileum:Gene
expression of FIBCD1 in normal prepouch ileum:Gene expression of NUP43 in
normal prepouch ileum:Gene expression of KCNF1 in normal prepouch ileum:Gene
expression of KRBA2 in normal prepouch ileum:Gene expression of C22orf26 in
normal prepouch ileum:Gene expression of LUZP3P in normal prepouch ileum:Gene
expression of NR5A1 in normal prepouch ileum:Gene expression of OR14I1 in
normal prepouch ileum:Gene expression of ABCB5 in normal prepouch ileum:Gene
expression of ALS2CR4 in normal prepouch ileum:Gene expression of CGB7 in
normal prepouch ileum:Gene expression of GAS1 in normal prepouch ileum:Gene
expression of PIGL in normal prepouch ileum:Gene expression of C3orf34 in
normal prepouch ileum:Gene expression of RNASE8 in normal prepouch ileum:Gene
expression of MYCNOS in normal prepouch ileum:Gene expression of C9orf144B in
normal prepouch ileum:Gene expression of FMO2 in normal prepouch ileum:Gene
expression of TMCC2 in normal prepouch ileum:Years of education:Gene
expression of RPS23 in normal prepouch ileum:Gene expression of CDCA2 in
normal prepouch ileum:Gene expression of DDX56 in normal prepouch ileum:Gene
expression of OR52E5 in normal prepouch ileum:Gene expression of GLI3 in
normal prepouch ileum:Gene expression of RP1L1 in normal prepouch ileum:Gene
expression of BOK in normal prepouch ileum:Gene expression of DEFB126 in
normal prepouch ileum:Gene expression of GNAT1 in normal prepouch ileum:Gene
expression of PANK2 in normal prepouch ileum:Gene expression of LOC348926 in
normal prepouch ileum:Gene expression of MST1R in normal prepouch ileum:Gene
expression of KRTAP5-10 in normal prepouch ileum:Gene expression of ENOPH1 in
normal prepouch ileum:Gene expression of C12orf62 in normal prepouch
ileum:Gene expression of CCL24 in normal prepouch ileum:Gene expression of
MS4A4A in normal prepouch ileum:Gene expression of OR52M1 in normal prepouch
ileum:Gene expression of FLJ37543 in normal prepouch ileum:Gene expression of
ZFP91-CNTF in normal prepouch ileum:Gene expression of EIF2B1 in normal
prepouch ileum:Gene expression of RBBP6 in normal prepouch ileum:Gene
expression of PIRT in normal prepouch ileum:Gene expression of TULP1 in
normal prepouch ileum:Gene expression of RPS10P7 in normal prepouch
ileum:Gene expression of ASXL3 in normal prepouch ileum:Gene expression of
PPT1 in normal prepouch ileum:Gene expression of C11orf41 in normal prepouch
ileum:Gene expression of RANBP3L in normal prepouch ileum:Gene expression of
SNRNP40 in normal prepouch ileum:Gene expression of LSM6 in normal prepouch
ileum:Gene expression of MMP7 in normal prepouch ileum:Gene expression of
LOC440313 in normal prepouch ileum:Gene expression of TMPRSS5 in normal
prepouch ileum:Gene expression of ZBTB32 in normal prepouch ileum:Gene
expression of FOXL1 in normal prepouch ileum:Gene expression of RPL14 in
normal prepouch ileum:Gene expression of MIR211 in normal prepouch ileum:Gene
expression of THNSL2 in normal prepouch ileum:Gene expression of KRTAP5-5 in
normal prepouch ileum:Gene expression of HMHB1 in normal prepouch ileum:Gene
expression of EYA4 in normal prepouch ileum:Gene expression of FNTB in normal
prepouch ileum:Hypertension (early onset hypertension):Gene expression of
FTSJ2 in normal prepouch ileum:Gene expression of CA6 in normal prepouch
ileum:Gene expression of OR7E154P in normal prepouch ileum:Gene expression of
OR52B4 in normal prepouch ileum:Gene expression of ANKRD45 in normal prepouch
ileum:Gene expression of FAM179A in normal prepouch ileum:Gene expression of
GPR179 in normal prepouch ileum:Gene expression of ZNF697 in normal prepouch
ileum:Gene expression of NCRNA00288 in normal prepouch ileum:Gene expression
of TXNDC8 in normal prepouch ileum:Gene expression of GAR1 in normal prepouch
ileum:Gene expression of HAUS6 in normal prepouch ileum:Gene expression of
DCK in normal prepouch ileum:Gene expression of C10orf92 in normal prepouch
ileum:Gene expression of FAM92B in normal prepouch ileum:Gene expression of
LRRC27 in normal prepouch ileum:Gene expression of DLEU1 in normal prepouch
ileum:Gene expression of LCE3A in normal prepouch ileum:Gene expression of
SOD3 in normal prepouch ileum:Gene expression of PRAMEF2 in normal prepouch
ileum:Gene expression of PLTP in normal prepouch ileum:Gene expression of
BOD1 in normal prepouch ileum:Gene expression of SNUPN in normal prepouch
ileum:Gene expression of MIR425 in normal prepouch ileum:Gene expression of
KIAA0317 in normal prepouch ileum:Gene expression of C2orf73 in normal
prepouch ileum:Gene expression of C16orf63 in normal prepouch ileum:Gene
expression of C17orf51 in normal prepouch ileum:Gene expression of OR51D1 in
normal prepouch ileum:Gene expression of ARHGEF15 in normal prepouch
ileum:Gene expression of C1orf92 in normal prepouch ileum:Gene expression of
C18orf2 in normal prepouch ileum:Gene expression of GPN3 in normal prepouch
ileum:Gene expression of CTSS in normal prepouch ileum:Gene expression of
NSMCE2 in normal prepouch ileum:Gene expression of GBA2 in normal prepouch
ileum:Schizophrenia (in multiplex schizophrenia pedigrees):Gene expression of
PIP5K1C in normal prepouch ileum:Gene expression of LARGE in normal prepouch
ileum:Gene expression of KCNS1 in normal prepouch ileum:Gene expression of
ZNF492 in normal prepouch ileum:Gene expression of CAMKV in normal prepouch
ileum:Gene expression of PALMD in normal prepouch ileum:Gene expression of
CEP250 in normal prepouch ileum:Gene expression of C14orf149 in normal
prepouch ileum:Gene expression of ACTL7A in normal prepouch ileum:Gene
expression of CLEC16A in normal prepouch ileum:Gene expression of C8orf33 in
normal prepouch ileum:Gene expression of TAOK2 in normal prepouch ileum:Gene
expression of STAG3 in normal prepouch ileum:Gene expression of HMGB1 in
normal prepouch ileum:Gene expression of RNASEH2B in normal prepouch
ileum:Gene expression of ZNF542 in normal prepouch ileum:Gene expression of
LOC400499 in normal prepouch ileum:Gene expression of SLC6A15 in normal
prepouch ileum:Gene expression of NAA40 in normal prepouch ileum:Gene
expression of MYADML2 in normal prepouch ileum:Gene expression of FIGNL1 in
normal prepouch ileum:Gene expression of ZNF818P in normal prepouch
ileum:Gene expression of WDR5 in normal prepouch ileum:Gene expression of
ALOX12 in normal prepouch ileum:Gene expression of POC5 in normal prepouch
ileum:Gene expression of RGL4 in normal prepouch ileum:Gene expression of
ASAH1 in normal prepouch ileum:Gene expression of OR2T1 in normal prepouch
ileum:Gene expression of RPS28 in normal prepouch ileum:Gene expression of
MRPS28 in normal prepouch ileum:Gene expression of KRT32 in normal prepouch
ileum:Gene expression of MAD2L1 in normal prepouch ileum:Gene expression of
TXNDC15 in normal prepouch ileum:Gene expression of HSPB11 in normal prepouch
ileum:Gene expression of CHCHD5 in normal prepouch ileum:Gene expression of
KCNH4 in normal prepouch ileum:Gene expression of ZFP2 in normal prepouch
ileum:Gene expression of PRR25 in normal prepouch ileum:Gene expression of
ZNF304 in normal prepouch ileum:Gene expression of MREG in normal prepouch
ileum:Gene expression of HSPB9 in normal prepouch ileum:Gene expression of
MSX2P1 in normal prepouch ileum:Gene expression of FAM162B in normal prepouch
ileum:Gene expression of TMEM132A in normal prepouch ileum:Gene expression of
UBA7 in normal prepouch ileum:Gene expression of VPS13D in normal prepouch
ileum:Gene expression of TMEM151B in normal prepouch ileum:Gene expression of
C4orf27 in normal prepouch ileum:Gene expression of LOC388796 in normal
prepouch ileum:Gene expression of OR10H1 in normal prepouch ileum:Gene
expression of C8orf34 in normal prepouch ileum:Gene expression of AVEN in
normal prepouch ileum:Gene expression of TFB2M in normal prepouch ileum:Gene
expression of SOX14 in normal prepouch ileum:Gene expression of OLA1 in
normal prepouch ileum:Gene expression of GPCRLTM7 in normal prepouch ileum:Gene
expression of ZNF415 in normal prepouch ileum:Gene expression of DDX52 in
normal prepouch ileum:Gene expression of OMD in normal prepouch ileum:Gene
expression of KBTBD5 in normal prepouch ileum:Gene expression of MAGI2 in
normal prepouch ileum:Gene expression of PLK4 in normal prepouch ileum:Gene
expression of C7orf68 in normal prepouch ileum:Gene expression of TMEM163 in
normal prepouch ileum:Gene expression of ZNF827 in normal prepouch ileum:Gene
expression of FNDC7 in normal prepouch ileum:Gene expression of IER3IP1 in
normal prepouch ileum:Gene expression of SSPN in normal prepouch ileum:Gene
expression of DEFB136 in normal prepouch ileum:Gene expression of HSD17B3 in
normal prepouch ileum:Gene expression of WDR74 in normal prepouch ileum:Gene
expression of WNT6 in normal prepouch ileum:Gene expression of ZNF341 in
normal prepouch ileum:Gene expression of GTF3C6 in normal prepouch ileum:Gene
expression of C2orf78 in normal prepouch ileum:Gene expression of RSPH4A in
normal prepouch ileum:Gene expression of C20orf20 in normal prepouch
ileum:Gene expression of ACTR1A in normal prepouch ileum:Gene expression of
EDC4 in normal prepouch ileum:Gene expression of RBP3 in normal prepouch
ileum:Gene expression of KIAA0913 in normal prepouch ileum:Gene expression of
SNORD24 in normal prepouch ileum:Gene expression of SLC34A1 in normal
prepouch ileum:Gene expression of CHST4 in normal prepouch ileum:Gene
expression of HNRNPA3P1 in normal prepouch ileum:Gene expression of OR6F1 in
normal prepouch ileum:Gene expression of LCNL1 in normal prepouch ileum:Gene
expression of ULBP1 in normal prepouch ileum:Gene expression of OR6C68 in
normal prepouch ileum:Gene expression of PLCD4 in normal prepouch ileum:Gene
expression of FBP2 in normal prepouch ileum:Gene expression of TCTN3 in
normal prepouch ileum:Gene expression of INSM2 in normal prepouch ileum:Gene
expression of MXRA8 in normal prepouch ileum:Gene expression of C1orf111 in
normal prepouch ileum:Gene expression of MIR195 in normal prepouch ileum:Gene
expression of CC2D1B in normal prepouch ileum:Gene expression of FCN1 in
normal prepouch ileum:Gene expression of ZWILCH in normal prepouch ileum:Gene
expression of TP53TG3 in normal prepouch ileum:Gene expression of MYST1 in
normal prepouch ileum:Gene expression of KRTAP4-9 in normal prepouch
ileum:Gene expression of FLJ44790 in normal prepouch ileum:Gene expression of
NDC80 in normal prepouch ileum:Gene expression of ARFIP2 in normal prepouch
ileum:Gene expression of NRN1L in normal prepouch ileum:Gene expression of
FAT2 in normal prepouch ileum:Gene expression of LY6G6D in normal prepouch
ileum:Gene expression of SNORD114-6 in normal prepouch ileum |
|
3 |
49721798 |
1 |
MST1 |
C |
A |
exonic |
synonymous SNV |
MST1:NM_020998:exon17:c.G1965T:p.R655R |
RS13085791 |
Fasting blood glucose:HOMA-IR:Total
cholesterol:Serum creatinine:College completion:Years of education |
|
3 |
49723784 |
1 |
MST1 |
C |
A |
exonic |
synonymous SNV |
MST1:NM_020998:exon8:c.G978T:p.P326P |
|
3 |
49724808 |
2 |
MST1 |
T |
C |
exonic |
synonymous SNV |
MST1:NM_020998:exon4:c.A459G:p.P153P |
RS3020779 |
Total cholesterol:Chronic kidney
disease:Parkinson's disease:Adiponectin levels:Years of education:Advanced
age-related macular degeneration (geographic atrophy):Obesity with early age
of onset (age >2):Advanced age-related macular degeneration:College
completion |
|
3 |
49724837 |
1 |
MST1 |
G |
A |
exonic |
nonsynonymous SNV |
MST1:NM_020998:exon4:c.C430T:p.P144S |
|
3 |
49724906 |
1 |
MST1 |
C |
T |
exonic |
nonsynonymous SNV |
MST1:NM_020998:exon4:c.G361A:p.V121I |
|
3 |
49728620 |
1 |
RNF123 |
A |
G |
exonic |
nonsynonymous SNV |
RNF123:NM_022064:exon2:c.A22G:p.M8V |
|
3 |
49728642 |
1 |
RNF123 |
A |
G |
exonic |
nonsynonymous SNV |
RNF123:NM_022064:exon2:c.A44G:p.Y15C |
|
3 |
49728916 |
1 |
RNF123 |
A |
C |
exonic |
nonsynonymous SNV |
RNF123:NM_022064:exon3:c.A141C:p.E47D |
|
3 |
49760039 |
2 |
GMPPB |
T |
C |
exonic |
nonsynonymous SNV |
GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R |
|
3 |
50114515 |
2 |
RBM6 |
C |
T |
exonic |
synonymous SNV |
RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_001349194:exon18:c.C1779T:p.Y593Y,RBM6:NM_001349190:exon19:c.C1755T:p.Y585Y,RBM6:NM_001349191:exon20:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y,RBM6:NM_001349193:exon22:c.C1755T:p.Y585Y,RBM6:NM_001349192:exon23:c.C1755T:p.Y585Y |
RS7061 |
Gene expression of probe 228030_at
in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in
lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level
expression of RBM5 [probe 2622524] in brain cortex:Differential exon level
expression of RBM5 [probe 2622524] in peripheral blood mononuclear
cells:Premature ovarian failure:Biploar disorder (bipolar schizoaffective
disorder):Total cholesterol:Gene expression of RBM6 in peripheral blood
monocytes:Gene expression of HYAL3 in peripheral blood monocytes:HDL
cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RBM6
[probe ILMN_13075] in osteoblasts treated with PGE2:Gene expression of RBM6
in blood:Gene expression of IFRD2///HYAL3 in blood:Years of education:Hypertension
(early onset hypertension):Obesity with early age of onset (age
>2):Parkinson's disease:Transmission distortion:Paternal transmission
distortion:College completion |
|
3 |
50144951 |
2 |
RBM5 |
T |
C |
exonic |
synonymous SNV |
RBM5:NM_005778:exon12:c.T990C:p.A330A |
RS1061474 |
Gene expression of probe 228030_at
in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in
lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level
expression of RBM5 [probe 2622524] in brain cortex:Differential exon level
expression of RBM5 [probe 2622524] in peripheral blood mononuclear
cells:Premature ovarian failure:Total cholesterol:HDL cholesterol:Total
cholesterol:Body mass index (BMI):Gene expression of RBM6 in blood:Gene
expression of IFRD2///HYAL3 in blood:Parkinson's disease:Gene expression of
UBA7 in normal prepouch ileum:College completion:Years of education:Obesity
with early age of onset (age >2):Hypertension (early onset hypertension) |
|
3 |
50153356 |
2 |
RBM5 |
T |
C |
exonic |
synonymous SNV |
RBM5:NM_005778:exon22:c.T2037C:p.Y679Y |
RS1138536 |
Differential exon level expression
of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Differential
exon level expression of RBM5 [probe 2622524] in brain cortex:Gene expression
of HYAL3 in peripheral blood monocytes:Gene expression of RBM6 in peripheral
blood monocytes:Triglycerides:Birth weight:Hypertension (early onset
hypertension):Gene expression of UBA7 in normal prepouch ileum |
|
3 |
50197092 |
1 |
SEMA3F |
C |
T |
exonic |
synonymous SNV |
SEMA3F:NM_001318800:exon2:c.C37T:p.L13L,SEMA3F:NM_004186:exon2:c.C37T:p.L13L |
|
3 |
50197097 |
1 |
SEMA3F |
C |
T |
exonic |
synonymous SNV |
SEMA3F:NM_001318800:exon2:c.C42T:p.T14T,SEMA3F:NM_004186:exon2:c.C42T:p.T14T |
|
3 |
50222926 |
2 |
SEMA3F |
T |
A |
exonic |
nonsynonymous SNV |
SEMA3F:NM_001318798:exon13:c.T1210A:p.L404M,SEMA3F:NM_001318800:exon13:c.T1414A:p.L472M,SEMA3F:NM_004186:exon14:c.T1507A:p.L503M |
|
3 |
50311900 |
1 |
SEMA3B |
C |
T |
exonic |
nonsynonymous SNV |
SEMA3B:NM_001290062:exon5:c.C215T:p.T72I,SEMA3B:NM_001290063:exon5:c.C215T:p.T72I |
RS2071203 |
Gene expression of HEMK in YRI
lymphoblastoid cell lines:Salmonella-induced pyroptosis |
|
3 |
50326020 |
1 |
IFRD2 |
G |
A |
exonic |
synonymous SNV |
IFRD2:NM_006764:exon10:c.C1338T:p.H446H |
|
3 |
50327429 |
1 |
IFRD2 |
A |
G |
exonic |
synonymous SNV |
IFRD2:NM_006764:exon5:c.T669C:p.F223F |
|
3 |
50329826 |
2 |
IFRD2 |
A |
G |
exonic |
synonymous SNV |
IFRD2:NM_006764:exon1:c.T72C:p.R24R |
RS1076872 |
HDL cholesterol change with
statins:Serum creatinine:Total cholesterol:HDL cholesterol:Obesity with early
age of onset (age >2):College completion |
|
3 |
50334231 |
1 |
NAT6 |
T |
A |
exonic |
nonsynonymous SNV |
NAT6:NM_001200016:exon2:c.A664T:p.R222W,NAT6:NM_001200018:exon2:c.A664T:p.R222W,NAT6:NM_012191:exon2:c.A730T:p.R244W |
RS2269432 |
Gene expression of HEMK in YRI
lymphoblastoid cell lines |
|
3 |
50339622 |
1 |
HYAL1 |
C |
T |
exonic |
nonsynonymous SNV |
HYAL1:NM_033159:exon2:c.G766A:p.G256R,HYAL1:NM_153282:exon2:c.G766A:p.G256R,HYAL1:NM_153283:exon2:c.G220A:p.G74R,HYAL1:NM_153281:exon4:c.G766A:p.G256R |
|
3 |
50355730 |
1 |
HYAL2 |
T |
G |
exonic |
nonsynonymous SNV |
HYAL2:NM_003773:exon4:c.A1252C:p.I418L,HYAL2:NM_033158:exon5:c.A1252C:p.I418L |
RS35455589 |
Salmonella-induced pyroptosis |
|
3 |
50357869 |
1 |
HYAL2 |
A |
C |
exonic |
nonsynonymous SNV |
HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A |
RS709210 |
HDL cholesterol:HDL cholesterol
change with statins:Gene expression of HYAL3 in Frontal cortex:HDL
cholesterol:Total cholesterol:Gene expression of HYAL3 [transcript NM_003549,
probe A_23_P361405] in liver:Obesity with early age of onset (age >2):Gene
expression of HYAL3 (probeID ILMN_1667432) in cerebellum in Alzheimer's
disease cases and controls:College completion:Gene expression of HYAL3
(probeID ILMN_1667432) in temporal cortex in Alzheimer's disease cases and
controls |
|
3 |
50597092 |
2 |
C3orf18 |
G |
A |
exonic |
nonsynonymous SNV |
C3orf18:NM_001171740:exon5:c.C485T:p.A162V,C3orf18:NM_001171741:exon5:c.C485T:p.A162V,C3orf18:NM_001171743:exon5:c.C425T:p.A142V,C3orf18:NM_016210:exon6:c.C485T:p.A162V |
RS1034405 |
HIV-1 control (viral load at set
point):Height:Body mass index (BMI):College completion |
|
3 |
50609624 |
1 |
HEMK1 |
T |
G |
exonic |
synonymous SNV |
HEMK1:NM_001317851:exon4:c.T399G:p.P133P,HEMK1:NM_016173:exon4:c.T399G:p.P133P |
RS2232248 |
Gene expression of HEMK in YRI
lymphoblastoid cell lines:Alzheimer's disease:Premature ovarian failure:Gene
expression of MAPKAPK3 in peripheral blood monocytes:Gene expression of FZD10
in peripheral blood monocytes:Brain glutamate concentrations in multiple
sclerosis (high neurodegeneration group):Height:Body mass index (BMI):Gene
expression of MAPKAPK3 in blood:Serum ratio of (1-stearoylglycerol
(1-monostearin))/(7-methylguanine):Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration:College completion:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
3 |
51428887 |
1 |
RBM15B |
C |
G |
exonic |
synonymous SNV |
RBM15B:NM_013286:exon1:c.C57G:p.S19S |
|
3 |
51430657 |
1 |
RBM15B |
A |
C |
exonic |
synonymous SNV |
RBM15B:NM_013286:exon1:c.A1827C:p.S609S |
RS3804766 |
Schizophrenia:Schizophrenia:Alcohol
dependence:Diabetic retinopathy in Type 2 diabetes mellitus |
|
3 |
51737965 |
1 |
TEX264 |
G |
A |
exonic |
nonsynonymous SNV |
TEX264:NM_001243727:exon4:c.G653A:p.G218E,TEX264:NM_001243725:exon5:c.G875A:p.G292E,TEX264:NM_001243726:exon5:c.G875A:p.G292E,TEX264:NM_015926:exon5:c.G875A:p.G292E,TEX264:NM_001129884:exon6:c.G875A:p.G292E,TEX264:NM_001278195:exon6:c.G875A:p.G292E |
|
3 |
51978220 |
2 |
PARP3 |
A |
G |
exonic |
nonsynonymous SNV |
PARP3:NM_001003931:exon3:c.A320G:p.H107R,PARP3:NM_005485:exon3:c.A299G:p.H100R |
|
3 |
52005608 |
1 |
ABHD14B |
C |
T |
exonic |
nonsynonymous SNV |
ABHD14B:NM_001146314:exon2:c.G79A:p.G27S,ABHD14B:NM_032750:exon2:c.G79A:p.G27S |
|
3 |
52237970 |
1 |
ALAS1 |
C |
T |
exonic |
synonymous SNV |
ALAS1:NM_001304443:exon4:c.C519T:p.I173I,ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_000688:exon5:c.C519T:p.I173I,ALAS1:NM_001304444:exon5:c.C570T:p.I190I |
RS352168 |
Gene expression of FLJ12442 in CHB
lymphoblastoid cell lines:2 hour glucose:HDL cholesterol:Cystatin C in
serum:Height:Waist hip ratio:Bipolar disorder:Adiponectin levels |
|
3 |
52453893 |
2 |
PHF7 |
C |
T |
exonic |
synonymous SNV |
PHF7:NM_001278221:exon5:c.C231T:p.G77G,PHF7:NM_001321126:exon5:c.C231T:p.G77G,PHF7:NM_001321127:exon5:c.C231T:p.G77G,PHF7:NM_016483:exon5:c.C231T:p.G77G |
RS498778 |
Autism:HDL cholesterol:Waist hip
ratio:Adiponectin levels |
|
3 |
52492707 |
2 |
NISCH |
T |
C |
exonic |
synonymous SNV |
NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N |
RS1541495 |
Triglycerides:HDL cholesterol:Waist
hip ratio:Height (Pygmy height):Adiponectin levels |
|
3 |
52510592 |
2 |
NISCH |
G |
A |
exonic |
nonsynonymous SNV |
NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I |
RS9856575 |
Comorbid depressive syndrome and
alcohol dependence |
|
3 |
52523405 |
2 |
NISCH |
C |
T |
exonic |
nonsynonymous SNV |
NISCH:NM_007184:exon17:c.C3167T:p.A1056V |
RS887515 |
Triglycerides:LDL cholesterol:HDL
cholesterol change with statins:Triglycerides:HDL cholesterol:Waist hip
ratio:Diastolic blood pressure (DBP):Advanced age-related macular
degeneration (geographic atrophy):Anti-TNF treatment response in rheumatoid
arthritis (by DAS-28 score change at 3 months) |
|
3 |
52567617 |
1 |
NT5DC2 |
A |
G |
exonic |
nonsynonymous SNV |
NT5DC2:NM_001134231:exon1:c.T137C:p.V46A |
|
3 |
52610651 |
1 |
PBRM1 |
T |
A |
exonic |
synonymous SNV |
PBRM1:NM_001350075:exon23:c.A3597T:p.P1199P,PBRM1:NM_018313:exon23:c.A3522T:p.P1174P,PBRM1:NM_181042:exon24:c.A3597T:p.P1199P,PBRM1:NM_001350079:exon25:c.A3585T:p.P1195P,PBRM1:NM_001350074:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350076:exon26:c.A3702T:p.P1234P,PBRM1:NM_001350078:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350077:exon27:c.A3696T:p.P1232P |
RS17264436 |
Gene expression of ITIH4 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FLJ12442 in CHB-JPT
lymphoblastoid cell lines:Cystatin C in serum:Serum creatinine:LDL
cholesterol:Total cholesterol:Height:Waist hip ratio:Years of education:Birth
weight:Refractive error:Adiponectin levels:College completion |
|
3 |
52721305 |
1 |
GNL3 |
G |
A |
exonic |
nonsynonymous SNV |
GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q |
RS11177 |
Gene expression of ITIH4 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FLJ12442 in CHB-JPT
lymphoblastoid cell lines:Differential exon level expression of GNL3 [probe
2624077] in peripheral blood mononuclear cells:Differential exon level expression
of PBRM1 [probe 2676224] in brain cortex:Differential exon level expression
of NEK4 [probe 2676380] in brain cortex:Cystatin C in serum:Serum
creatinine:Lp-PLA2 mass:LDL cholesterol:Total cholesterol:Height:Waist hip
ratio:Gene expression of STAB1///NT5DC2 in blood:Gene expression of ITIH4 in
blood:Gene expression of GNL3 in blood:Gene expression of SPCS1 in
blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Bipolar
disorder:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in
Progressive Supranuclear Palsy cases:Major depressive disorder and bipolar
disorder combined analysis:College completion:Osteoarthritis
(females):Adiponectin levels:Gene expression of GNL3 (probeID ILMN_1790659)
in temporal cortex in Alzheimer's disease cases and
controls:Salmonella-induced pyroptosis:Gene expression of GNL3 (probeID
ILMN_1790659) in temporal cortex in Alzheimer's disease cases:Knee
osteoarthritis (females):Gene expression of GNL3 (probeID ILMN_1790659) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease
cases:Osteoarthritis:Major depressive disorder:Knee
osteoarthritis:Transmission distortion:Hip osteoarthritis (males):Gene
expression of SPCS1 in normal prepouch ileum:Osteoarthritis (males):Birth
weight:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in
non-Alzheimer's disease samples:Refractive error:Hip osteoarthritis:Gene
expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's
disease cases and controls:Years of education:Maternal transmission
distortion:Knee osteoarthritis (males):Hip osteoarthritis (females) |
|
3 |
52727257 |
1 |
GNL3 |
G |
A |
exonic |
nonsynonymous SNV |
GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_206826:exon11:c.G1063A:p.V355M |
RS2289247 |
Bipolar disorder, combined control
dataset:Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene
expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression
of Hs.132700 in CEU lymphoblastoid cell lines:Differential exon level
expression of PBRM1 [probe 2676224] in brain cortex:Differential exon level
expression of GNL3 [probe 2624077] in peripheral blood mononuclear cells:Gene
expression of AD-017 probe [GI_8923854-A] in brain cortex with no Alzheimer's
interaction:Bipolar disorder:Major depressive disorder:HDL cholesterol:Serum
creatinine:Cystatin C in serum:Gene expression of ITIH4 in peripheral blood
monocytes:Gene expression of GLYCTK in peripheral blood monocytes:Gene
expression of NT5DC2 in peripheral blood monocytes:LDL cholesterol:Total
cholesterol:Height:Waist hip ratio:Gene expression of SPCS1 in blood:Gene
expression of ITIH4 in blood:Gene expression of GNL3 in blood:Gene expression
of STAB1///NT5DC2 in blood:Serum concentration of DSGEGDFXAEGGGVR*:Bipolar disorder:Major
depressive disorder:Gene expression of GNL3 (probeID ILMN_1790659) in
temporal cortex in Alzheimer's disease cases:Gene expression of GNL3 (probeID
ILMN_1790659) in temporal cortex in Progressive Supranuclear Palsy
cases:Adiponectin levels:Gene expression of GNL3 (probeID ILMN_1790659) in
cerebellum in Alzheimer's disease cases:Gene expression of GNL3 (probeID
ILMN_1790659) in cerebellum in non-Alzheimer's disease samples:Birth
weight:Gene expression of SPCS1 in normal prepouch ileum:College
completion:Major depressive disorder and bipolar disorder combined
analysis:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of GNL3 (probeID
ILMN_1790659) in cerebellum in Progressive Supranuclear Palsy
cases:Transmission distortion:Maternal transmission distortion:Years of
education:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex
in Alzheimer's disease cases and controls:Refractive error:Paternal
transmission distortion:Bipolar disorder |
|
3 |
52740182 |
1 |
SPCS1 |
C |
G |
exonic |
nonsynonymous SNV |
SPCS1:NM_014041:exon1:c.C121G:p.P41A |
RS6617 |
Gene expression of FLJ12442 in
CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT
lymphoblastoid cell lines:HDL cholesterol:Cystatin C in serum:Serum
creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip
ratio:Adiponectin levels:College completion:Years of education:Gene
expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's
disease cases and controls:Birth weight:Gene expression of GNL3 (probeID
ILMN_1790659) in cerebellum in Alzheimer's disease cases and controls |
|
3 |
52800284 |
1 |
NEK4 |
T |
C |
exonic |
synonymous SNV |
NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_001348412:exon3:c.A468G:p.L156L,NEK4:NM_001348413:exon3:c.A468G:p.L156L,NEK4:NM_001348414:exon3:c.A222G:p.L74L,NEK4:NM_003157:exon3:c.A468G:p.L156L |
RS2230535 |
Gene expression of FLJ12442 in
CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT
lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Waist hip
ratio:Bipolar disorder:Major depressive disorder and bipolar disorder
combined analysis:Gene expression of SPCS1 in normal prepouch
ileum:Adiponectin levels:Bipolar disorder:Salmonella-induced pyroptosis:Major
depressive disorder |
|
3 |
52802402 |
1 |
NEK4 |
A |
C |
exonic |
synonymous SNV |
NEK4:NM_001348412:exon2:c.T312G:p.P104P,NEK4:NM_001348413:exon2:c.T312G:p.P104P,NEK4:NM_001348414:exon2:c.T66G:p.P22P,NEK4:NM_003157:exon2:c.T312G:p.P104P |
RS2230534 |
Gene expression of FLJ12442 in
CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT
lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Waist hip
ratio:Salmonella-induced pyroptosis:Major depressive disorder and bipolar
disorder combined analysis:Major depressive disorder:Bipolar disorder |
|
3 |
52833805 |
1 |
ITIH3 |
C |
A |
exonic |
nonsynonymous SNV |
ITIH3:NM_002217:exon9:c.C943A:p.Q315K |
RS3617 |
Gene expression of FLJ12442 in
CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT-YRI
lymphoblastoid cell lines:Gene expression of TMEM110 [probe 2676471] in
peripheral blood mononuclear cells:Fasting insulin:HDL cholesterol:Lp-PLA2
mass:Lp-PLA2 activity:Height:Waist hip ratio:Body mass index (BMI):Late onset
Alzheimer's disease:Gene expression of PBRM1 [transcript NM_018313, probe
A_23_P218863] in liver:Gene expression of SPCS1 in blood:Gene expression of
TMEM110 in blood:Serum concentration of DSGEGDFXAEGGGVR*:Bipolar
disorder:Waist hip ratio:Bipolar disorder:Major depressive disorder and
bipolar disorder combined analysis:Transmission distortion:Birth weight:Major
depressive disorder:Refractive error:Adiponectin levels:Maternal transmission
distortion:Years of education:Gene expression of SPCS1 in normal prepouch
ileum:Body mass index (BMI):Fasting insulin |
|
3 |
53125922 |
2 |
RFT1 |
T |
C |
exonic |
synonymous SNV |
RFT1:NM_052859:exon13:c.A1623G:p.T541T |
RS11242 |
Irritible bowel
syndrome:Neuroticism:LDL cholesterol:Triglycerides change with statins:Gene
expression of ITIH4 in peripheral blood monocytes:Gene expression of SFMBT1
in peripheral blood monocytes:HDL cholesterol:Height:Waist hip ratio:Serum
ratio of (arabinose)/(pantothenate):Adiponectin levels:Obesity with early age
of onset (age >2) |
|
3 |
53222761 |
2 |
PRKCD |
C |
T |
exonic |
synonymous SNV |
PRKCD:NM_212539:exon15:c.C1441T:p.L481L,PRKCD:NM_001316327:exon16:c.C1441T:p.L481L,PRKCD:NM_006254:exon16:c.C1441T:p.L481L |
RS2306574 |
Fasting
insulin:HOMA-IR:Triglycerides change with statins |
|
3 |
53223927 |
2 |
PRKCD |
C |
G |
exonic |
synonymous SNV |
PRKCD:NM_212539:exon17:c.C1782G:p.T594T,PRKCD:NM_001316327:exon18:c.C1782G:p.T594T,PRKCD:NM_006254:exon18:c.C1782G:p.T594T |
|
3 |
53224002 |
2 |
PRKCD |
T |
C |
exonic |
synonymous SNV |
PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_001316327:exon18:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P |
|
3 |
53321631 |
1 |
DCP1A |
A |
C |
exonic |
synonymous SNV |
DCP1A:NM_001290207:exon8:c.T1239G:p.V413V,DCP1A:NM_001290204:exon9:c.T1602G:p.V534V,DCP1A:NM_001290206:exon9:c.T1353G:p.V451V,DCP1A:NM_018403:exon10:c.T1716G:p.V572V,DCP1A:NM_001290205:exon11:c.T1500G:p.V500V |
RS9628 |
Eye color:Fasting insulin:Total
cholesterol:Gene expression of TKT in blood:Gene expression of PRKCD in
blood:Resistance to kuru in aged women despite likely exposure:Adiponectin
levels |
|
3 |
53857676 |
1 |
CHDH |
C |
T |
exonic |
synonymous SNV |
CHDH:NM_018397:exon3:c.G360A:p.L120L |
|
3 |
53857803 |
1 |
CHDH |
A |
C |
exonic |
nonsynonymous SNV |
CHDH:NM_018397:exon3:c.T233G:p.L78R |
|
3 |
53857917 |
1 |
CHDH |
T |
G |
exonic |
nonsynonymous SNV |
CHDH:NM_018397:exon3:c.A119C:p.E40A |
RS9001 |
Parkinson's disease |
|
3 |
53905308 |
1 |
ACTR8 |
T |
C |
exonic |
synonymous SNV |
ACTR8:NM_022899:exon11:c.A1518G:p.G506G |
RS1046677 |
Gene expression of probe 236242_at
in lymphoblastoid cell lines:2 hour glucose:Total cholesterol change with
statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene
expression of ACTR8 in normal prepouch ileum |
|
3 |
53906513 |
1 |
ACTR8 |
G |
A |
exonic |
synonymous SNV |
ACTR8:NM_022899:exon10:c.C1200T:p.I400I |
RS4687757 |
2 hour glucose:Total cholesterol
change with statins:Serum creatinine:Gene expression of IL17RB in
Cerebellum:Gene expression of ACTR8 in normal prepouch ileum |
|
3 |
53914093 |
1 |
ACTR8 |
G |
A |
exonic |
nonsynonymous SNV |
ACTR8:NM_022899:exon2:c.C167T:p.T56I |
RS3733082 |
Cystatin C in
serum:Salmonella-induced pyroptosis |
|
3 |
56597954 |
2 |
CCDC66 |
C |
T |
exonic |
synonymous SNV |
CCDC66:NM_001012506:exon4:c.C243T:p.T81T,CCDC66:NM_001141947:exon4:c.C345T:p.T115T |
RS6769055 |
Irritible bowel syndrome:Rheumatoid
arthritis:Height:Maternal transmission distortion |
|
3 |
56627048 |
2 |
CCDC66 |
A |
G |
exonic |
synonymous SNV |
CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q |
RS1388256 |
Height:Bipolar disorder:Refractive
error |
|
3 |
56627598 |
2 |
CCDC66 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R |
|
3 |
56667682 |
1 |
FAM208A |
G |
C |
exonic |
nonsynonymous SNV |
FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R |
RS9835332 |
HOMA-B:HDL
cholesterol:Triglycerides:Height:Gene expression:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Height:Height:Height:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in
non-Alzheimer's disease samples:Gene expression of C3orf63 (probeID
ILMN_1661409) in cerebellum in Alzheimer's disease cases and
controls:Height:Years of education:College completion |
|
3 |
56716922 |
1 |
FAM208A |
T |
G |
exonic |
nonsynonymous SNV |
FAM208A:NM_001112736:exon1:c.A113C:p.Q38P |
RS958755 |
Spine bone mineral density
(BMD):Alzheimer's disease:HDL cholesterol:Triglycerides:Height:Gene
expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with
BMP2:Urinary albumin-to-creatinine ratio:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Height:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion:Years of education |
|
3 |
56763316 |
1 |
ARHGEF3 |
G |
A |
exonic |
synonymous SNV |
ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H |
|
3 |
56763328 |
1 |
ARHGEF3 |
T |
C |
exonic |
synonymous SNV |
ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G |
RS1565377 |
Triglycerides:HDL
cholesterol:Height:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):College completion:Years of education |
|
3 |
56771251 |
1 |
ARHGEF3 |
A |
C |
exonic |
nonsynonymous SNV |
ARHGEF3:NM_001128616:exon8:c.T1021G:p.L341V,ARHGEF3:NM_019555:exon8:c.T1003G:p.L335V,ARHGEF3:NM_001289698:exon9:c.T1021G:p.L341V,ARHGEF3:NM_001128615:exon11:c.T1099G:p.L367V |
RS3772219 |
Irritible bowel syndrome:Rheumatoid
arthritis:Longstanding arthritis:Alzheimer's disease:Autism with low IQ:Gene
expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with bmp:Gene
expression of ARHGEF3 in blood:Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(2-stearoylglycerophosphocholine*):Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):College completion |
|
3 |
58081888 |
1 |
FLNB |
T |
C |
exonic |
synonymous SNV |
FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S |
|
3 |
58116478 |
1 |
FLNB |
C |
G |
exonic |
nonsynonymous SNV |
FLNB:NM_001164317:exon25:c.C4233G:p.F1411L,FLNB:NM_001164318:exon25:c.C4233G:p.F1411L,FLNB:NM_001164319:exon25:c.C4233G:p.F1411L,FLNB:NM_001457:exon25:c.C4233G:p.F1411L |
|
3 |
58382846 |
1 |
PXK |
C |
T |
exonic |
synonymous SNV |
PXK:NM_001289101:exon7:c.C492T:p.C164C,PXK:NM_001349525:exon7:c.C492T:p.C164C,PXK:NM_001349526:exon7:c.C492T:p.C164C,PXK:NM_001349532:exon7:c.C492T:p.C164C,PXK:NM_001349533:exon7:c.C492T:p.C164C,PXK:NM_001349534:exon7:c.C492T:p.C164C,PXK:NM_001349535:exon7:c.C492T:p.C164C,PXK:NM_001349536:exon7:c.C492T:p.C164C,PXK:NM_001349537:exon7:c.C492T:p.C164C,PXK:NM_001349538:exon7:c.C492T:p.C164C,PXK:NM_001349539:exon7:c.C492T:p.C164C,PXK:NM_001349540:exon7:c.C492T:p.C164C,PXK:NM_001289096:exon8:c.C804T:p.C268C,PXK:NM_001289100:exon8:c.C804T:p.C268C,PXK:NM_001349490:exon8:c.C804T:p.C268C,PXK:NM_001349500:exon8:c.C804T:p.C268C,PXK:NM_001349522:exon8:c.C804T:p.C268C,PXK:NM_001349524:exon8:c.C804T:p.C268C,PXK:NM_001289095:exon9:c.C852T:p.C284C,PXK:NM_001349491:exon9:c.C492T:p.C164C,PXK:NM_001349494:exon9:c.C855T:p.C285C,PXK:NM_001349495:exon9:c.C855T:p.C285C,PXK:NM_001349496:exon9:c.C852T:p.C284C,PXK:NM_001349497:exon9:c.C852T:p.C284C,PXK:NM_001349501:exon9:c.C855T:p.C285C,PXK:NM_001349502:exon9:c.C852T:p.C284C,PXK:NM_001349510:exon9:c.C855T:p.C285C,PXK:NM_001349511:exon9:c.C855T:p.C285C,PXK:NM_001349512:exon9:c.C855T:p.C285C,PXK:NM_001349514:exon9:c.C852T:p.C284C,PXK:NM_001349515:exon9:c.C852T:p.C284C,PXK:NM_001349516:exon9:c.C855T:p.C285C,PXK:NM_001349517:exon9:c.C852T:p.C284C,PXK:NM_001349518:exon9:c.C852T:p.C284C,PXK:NM_001289098:exon10:c.C903T:p.C301C,PXK:NM_001289099:exon10:c.C654T:p.C218C,PXK:NM_001349488:exon10:c.C903T:p.C301C,PXK:NM_001349492:exon10:c.C903T:p.C301C,PXK:NM_001349493:exon10:c.C903T:p.C301C,PXK:NM_001349498:exon10:c.C843T:p.C281C,PXK:NM_001349499:exon10:c.C903T:p.C301C,PXK:NM_001349503:exon10:c.C903T:p.C301C,PXK:NM_001349504:exon10:c.C903T:p.C301C,PXK:NM_001349506:exon10:c.C903T:p.C301C,PXK:NM_001349507:exon10:c.C903T:p.C301C,PXK:NM_001349508:exon10:c.C903T:p.C301C,PXK:NM_001349509:exon10:c.C903T:p.C301C,PXK:NM_001349519:exon10:c.C903T:p.C301C,PXK:NM_001349520:exon10:c.C903T:p.C301C,PXK:NM_001349527:exon10:c.C903T:p.C301C,PXK:NM_017771:exon10:c.C903T:p.C301C,PXK:NM_001349489:exon11:c.C654T:p.C218C,PXK:NM_001349513:exon11:c.C654T:p.C218C,PXK:NM_001349521:exon11:c.C654T:p.C218C,PXK:NM_001349528:exon11:c.C654T:p.C218C,PXK:NM_001349529:exon11:c.C654T:p.C218C,PXK:NM_001349530:exon11:c.C654T:p.C218C,PXK:NM_001349531:exon11:c.C654T:p.C218C |
RS3191903 |
Gene expression of RPP14 in normal
prepouch ileum:Gene expression of ABHD6 in normal prepouch ileum:Gene
expression of PXK in normal prepouch ileum |
|
3 |
58416535 |
1 |
PDHB |
C |
T |
exonic |
synonymous SNV |
PDHB:NM_001315536:exon5:c.G384A:p.G128G,PDHB:NM_000925:exon6:c.G438A:p.G146G |
|
3 |
58416538 |
2 |
PDHB |
T |
C |
exonic |
synonymous SNV |
PDHB:NM_001315536:exon5:c.A381G:p.R127R,PDHB:NM_000925:exon6:c.A435G:p.R145R |
|
3 |
62229553 |
2 |
PTPRG |
C |
T |
exonic |
synonymous SNV |
PTPRG:NM_002841:exon15:c.C2448T:p.I816I |
|
3 |
66287056 |
1 |
SLC25A26 |
G |
A |
exonic |
nonsynonymous SNV |
SLC25A26:NM_001350991:exon2:c.G122A:p.S41N,SLC25A26:NM_173471:exon3:c.G122A:p.S41N |
|
3 |
66419956 |
1 |
SLC25A26 |
C |
T |
exonic |
nonsynonymous SNV |
SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_001350992:exon7:c.C359T:p.T120M,SLC25A26:NM_001350991:exon8:c.C623T:p.T208M,SLC25A26:NM_001350993:exon9:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M |
RS13874 |
Gene expression of SLC25A26 in
lymphoblastoid cell lines:Differential exon level expression of SLC25A26
[probe 2628112] in peripheral blood mononuclear cells:Differential exon level
expression of SLC25A26 [probe 2628122] in peripheral blood mononuclear cells:Height:Waist
hip ratio:Gene expression of SLC25A26 in blood:Gene expression of SLC25A26
(probeID ILMN_1777976) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SLC25A26 (probeID ILMN_1777976) in cerebellum in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Gene expression of SLC25A26 in normal
prepouch ileum |
|
3 |
66433676 |
2 |
LRIG1 |
A |
G |
exonic |
synonymous SNV |
LRIG1:NM_015541:exon15:c.T2221C:p.L741L |
RS900171 |
Height:Waist hip ratio |
|
3 |
66550756 |
2 |
LRIG1 |
G |
C |
exonic |
nonsynonymous SNV |
LRIG1:NM_015541:exon1:c.C76G:p.L26V |
|
3 |
66550762 |
2 |
LRIG1 |
G |
C |
exonic |
nonsynonymous SNV |
LRIG1:NM_015541:exon1:c.C70G:p.L24V |
|
3 |
69096614 |
2 |
TMF1 |
G |
A |
exonic |
synonymous SNV |
TMF1:NM_007114:exon2:c.C1242T:p.S414S |
RS2292199 |
2 hour glucose:Fasting blood
glucose:Height |
|
3 |
88199298 |
2 |
C3orf38 |
T |
C |
exonic |
synonymous SNV |
C3orf38:NM_173824:exon1:c.T96C:p.T32T |
RS6551278 |
Fasting
insulin:HOMA-IR:Triglycerides change with statins:Body mass index
(BMI):Microalbuminuria:College completion:Obesity with early age of onset
(age >2) |
|
3 |
97660084 |
2 |
CRYBG3 |
C |
T |
exonic |
synonymous SNV |
CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C |
RS11544446 |
HOMA-IR:Triglycerides change with
statins:Diabetic retinopathy in Type 2 diabetes mellitus |
|
3 |
97673268 |
2 |
RIOX2 |
A |
C |
exonic |
synonymous SNV |
RIOX2:NM_001042533:exon5:c.T753G:p.S251S,RIOX2:NM_001261829:exon5:c.T753G:p.S251S,RIOX2:NM_032778:exon5:c.T753G:p.S251S,RIOX2:NM_153182:exon5:c.T753G:p.S251S |
RS832079 |
Diabetic retinopathy in Type 2
diabetes mellitus |
|
3 |
98307630 |
1 |
CPOX |
C |
T |
exonic |
nonsynonymous SNV |
CPOX:NM_000097:exon4:c.G880A:p.V294I |
|
3 |
99886662 |
1 |
CMSS1 |
G |
A |
exonic |
nonsynonymous SNV |
CMSS1:NM_001167924:exon6:c.G442A:p.V148I,CMSS1:NM_032359:exon6:c.G496A:p.V166I |
|
3 |
100467018 |
1 |
TFG |
T |
C |
exonic |
synonymous SNV |
TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P |
RS11353 |
Sporadic Creutzfeldt-Jakob
disease:Gene expression of TFG (probeID ILMN_2341815) in cerebellum in
Alzheimer's disease cases and controls:Hypertension (early onset
hypertension):Gene expression of TFG (probeID ILMN_2341815) in temporal
cortex in Alzheimer's disease cases and controls |
|
3 |
101085413 |
1 |
SENP7 |
G |
A |
exonic |
synonymous SNV |
SENP7:NM_001282803:exon6:c.C687T:p.T229T,SENP7:NM_001077203:exon8:c.C984T:p.T328T,SENP7:NM_001282801:exon8:c.C981T:p.T327T,SENP7:NM_001282802:exon8:c.C1080T:p.T360T,SENP7:NM_020654:exon9:c.C1179T:p.T393T |
RS939443 |
HDL cholesterol change with
statins:Body mass index (BMI):Diastolic blood pressure (DBP):Gene expression
of SENP7 in normal prepouch ileum |
|
3 |
101576175 |
1 |
NFKBIZ |
T |
C |
exonic |
synonymous SNV |
NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L |
RS14134 |
Height:Adiponectin levels:Years of
education:Refractive error:Birth weight:College completion |
|
3 |
105389153 |
1 |
CBLB |
A |
G |
exonic |
synonymous SNV |
CBLB:NM_001321816:exon15:c.T1554C:p.P518P,CBLB:NM_001321797:exon16:c.T2334C:p.P778P,CBLB:NM_001321798:exon16:c.T2334C:p.P778P,CBLB:NM_001321799:exon16:c.T2334C:p.P778P,CBLB:NM_001321811:exon16:c.T1686C:p.P562P,CBLB:NM_001321789:exon17:c.T2550C:p.P850P,CBLB:NM_001321790:exon17:c.T2547C:p.P849P,CBLB:NM_001321791:exon17:c.T2481C:p.P827P,CBLB:NM_001321793:exon17:c.T2481C:p.P827P,CBLB:NM_001321794:exon17:c.T2466C:p.P822P,CBLB:NM_001321795:exon17:c.T2466C:p.P822P,CBLB:NM_001321796:exon17:c.T2466C:p.P822P,CBLB:NM_001321806:exon17:c.T1833C:p.P611P,CBLB:NM_001321786:exon18:c.T2697C:p.P899P,CBLB:NM_001321788:exon18:c.T2613C:p.P871P,CBLB:NM_001321808:exon18:c.T1701C:p.P567P,CBLB:NM_001321813:exon18:c.T1686C:p.P562P,CBLB:NM_170662:exon18:c.T2613C:p.P871P,CBLB:NM_001321807:exon19:c.T1833C:p.P611P,CBLB:NM_001321820:exon19:c.T1293C:p.P431P,CBLB:NM_001321822:exon19:c.T1284C:p.P428P |
|
3 |
108403086 |
2 |
DZIP3 |
T |
C |
exonic |
synonymous SNV |
DZIP3:NM_014648:exon27:c.T2907C:p.P969P |
|
3 |
112289505 |
1 |
SLC35A5 |
C |
T |
exonic |
synonymous SNV |
SLC35A5:NM_001348905:exon4:c.C348T:p.S116S,SLC35A5:NM_001348906:exon4:c.C348T:p.S116S,SLC35A5:NM_001348907:exon4:c.C348T:p.S116S,SLC35A5:NM_001348910:exon4:c.C348T:p.S116S,SLC35A5:NM_001348911:exon4:c.C348T:p.S116S,SLC35A5:NM_017945:exon4:c.C348T:p.S116S |
|
3 |
112727184 |
1 |
NEPRO |
A |
T |
exonic |
nonsynonymous SNV |
NEPRO:NM_001319110:exon5:c.T568A:p.F190I,NEPRO:NM_001319109:exon6:c.T859A:p.F287I,NEPRO:NM_001319111:exon7:c.T460A:p.F154I,NEPRO:NM_001319112:exon7:c.T736A:p.F246I,NEPRO:NM_001319114:exon7:c.T661A:p.F221I,NEPRO:NM_001319115:exon7:c.T778A:p.F260I,NEPRO:NM_015412:exon8:c.T1069A:p.F357I |
RS2306857 |
Serum creatinine:Waist hip ratio |
|
3 |
113373930 |
2 |
USF3 |
A |
G |
exonic |
nonsynonymous SNV |
USF3:NM_001009899:exon7:c.T6599C:p.V2200A |
|
3 |
113673125 |
1 |
ZDHHC23 |
A |
G |
exonic |
nonsynonymous SNV |
ZDHHC23:NM_001320466:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320467:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320468:exon3:c.A740G:p.K247R,ZDHHC23:NM_173570:exon3:c.A740G:p.K247R |
RS11921691 |
Amyotrophic lateral sclerosis
(ALS):2 hour glucose:HDL cholesterol change with statins:Total cholesterol
change with statins:Bipolar disorder:Gene expression of ZDHHC23
(ENSG00000184307) in dendritic cells |
|
3 |
118604436 |
2 |
|
3 |
119533910 |
2 |
NR1I2 |
T |
C |
exonic |
synonymous SNV |
NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N,NR1I2:NM_033013:exon6:c.T768C:p.N256N |
|
3 |
120389316 |
2 |
HGD |
T |
A |
exonic |
nonsynonymous SNV |
HGD:NM_000187:exon4:c.A240T:p.Q80H |
|
3 |
121413637 |
1 |
GOLGB1 |
G |
A |
exonic |
synonymous SNV |
GOLGB1:NM_001256488:exon12:c.C5493T:p.S1831S,GOLGB1:NM_001256486:exon13:c.C5733T:p.S1911S,GOLGB1:NM_001256487:exon13:c.C5616T:p.S1872S,GOLGB1:NM_004487:exon13:c.C5718T:p.S1906S |
|
3 |
121415370 |
1 |
GOLGB1 |
T |
C |
exonic |
nonsynonymous SNV |
GOLGB1:NM_001256488:exon12:c.A3760G:p.T1254A,GOLGB1:NM_001256486:exon13:c.A4000G:p.T1334A,GOLGB1:NM_001256487:exon13:c.A3883G:p.T1295A,GOLGB1:NM_004487:exon13:c.A3985G:p.T1329A |
|
3 |
121415610 |
1 |
GOLGB1 |
G |
A |
exonic |
nonsynonymous SNV |
GOLGB1:NM_001256488:exon12:c.C3520T:p.P1174S,GOLGB1:NM_001256486:exon13:c.C3760T:p.P1254S,GOLGB1:NM_001256487:exon13:c.C3643T:p.P1215S,GOLGB1:NM_004487:exon13:c.C3745T:p.P1249S |
|
3 |
121507231 |
1 |
IQCB1 |
A |
T |
exonic |
nonsynonymous SNV |
IQCB1:NM_001023571:exon9:c.T779A:p.I260N,IQCB1:NM_001023570:exon12:c.T1178A:p.I393N,IQCB1:NM_001319107:exon12:c.T1178A:p.I393N |
RS1141528 |
Schizophrenia:Serum creatinine:Gene
expression of SLC15A2 in peripheral blood monocytes:Gene expression of IQCB1
in peripheral blood monocytes:Parkinson's disease |
|
3 |
121526204 |
1 |
IQCB1 |
G |
A |
exonic |
synonymous SNV |
IQCB1:NM_001023570:exon7:c.C574T:p.L192L,IQCB1:NM_001023571:exon7:c.C574T:p.L192L,IQCB1:NM_001319107:exon7:c.C574T:p.L192L |
RS4543051 |
Triglycerides:Serum
creatinine:Triglycerides |
|
3 |
121563355 |
1 |
EAF2 |
T |
C |
exonic |
synonymous SNV |
EAF2:NM_018456:exon2:c.T162C:p.G54G |
RS9884018 |
Gene expression of IQCB1 [probe
205995_x_at] in lymphoblastoid cell lines:Gene expression of GOLGB1 in blood
cells in Celiac disease:Gene expression of GOLGB1 [probe ILMN_1500] in
osteoblasts:Gene expression of IQCB1 in CD4+ lymphocytes:Gene expression of
IQCB1 in blood:Gene expression of GOLGB1 in blood:Serum concentration of
3-dehydrocarnitine*:Sporadic Creutzfeldt-Jakob disease:Gene expression of
GOLGB1 in liver:Gene expression of GOLGB1 (probeID ILMN_1747935) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of GOLGB1
(probeID ILMN_1747935) in cerebellum in Alzheimer's disease cases and
controls |
|
3 |
122056432 |
2 |
CSTA |
C |
T |
exonic |
synonymous SNV |
CSTA:NM_005213:exon2:c.C105T:p.Y35Y |
RS17589 |
Hypertension:Irritible bowel
syndrome:Total cholesterol:Acute lung injury following major trauma |
|
3 |
122186188 |
2 |
KPNA1 |
C |
T |
exonic |
nonsynonymous SNV |
KPNA1:NM_002264:exon3:c.G218A:p.S73N |
|
3 |
122288210 |
1 |
DTX3L |
G |
A |
exonic |
nonsynonymous SNV |
DTX3L:NM_138287:exon3:c.G1274A:p.R425K |
RS2332285 |
Gene expression of CCDC58 in
peripheral blood monocytes:Total cholesterol:LDL cholesterol:LDL
cholesterol:Gene expression of [probe 2350228 centered at chr3:123614154] in
blood:Serum ratio of (arabinose)/(deoxycholate):Variant Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension) |
|
3 |
122420050 |
1 |
PARP14 |
C |
T |
exonic |
synonymous SNV |
PARP14:NM_017554:exon6:c.C2649T:p.P883P |
|
3 |
122437321 |
2 |
PARP14 |
T |
C |
exonic |
synonymous SNV |
PARP14:NM_017554:exon14:c.T4323C:p.Y1441Y |
RS7645033 |
LDL cholesterol:Total
cholesterol:Gene expression of HSPBAP1 in blood:Comorbid depressive syndrome
and alcohol dependence:Variant Creutzfeldt-Jakob disease:Mitral annular
calcium:Years of education:College completion |
|
3 |
122880191 |
1 |
PDIA5 |
T |
C |
exonic |
synonymous SNV |
PDIA5:NM_006810:exon16:c.T1368C:p.C456C |
RS8935 |
Gene expression of PDIA5 in
blood:Tetrology of fallot |
|
3 |
123411589 |
2 |
MYLK |
G |
A |
exonic |
synonymous SNV |
MYLK:NM_001321309:exon18:c.C3030T:p.T1010T,MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T |
RS40305 |
2 hour glucose:LDL cholesterol:Total
cholesterol:Cystatin C in serum |
|
3 |
123418913 |
2 |
MYLK |
G |
A |
exonic |
synonymous SNV |
MYLK:NM_001321309:exon17:c.C2874T:p.N958N,MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N |
RS865358 |
Cystatin C in serum:Urinary
albumin-to-creatinine ratio |
|
3 |
123634046 |
2 |
CCDC14 |
G |
A |
exonic |
synonymous SNV |
CCDC14:NM_001308317:exon12:c.C1842T:p.S614S,CCDC14:NM_022757:exon12:c.C2319T:p.S773S |
RS2700373 |
Total cholesterol:LDL
cholesterol:Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob
disease:College completion:Years of education:Acute lung injury following
major trauma |
|
3 |
123665902 |
2 |
CCDC14 |
T |
G |
exonic |
nonsynonymous SNV |
CCDC14:NM_001308317:exon7:c.A493C:p.T165P,CCDC14:NM_022757:exon7:c.A970C:p.T324P |
RS17310144 |
Height:Diastolic blood pressure
(DBP):Years of education:College completion:Acute lung injury following major
trauma |
|
3 |
124692689 |
2 |
HEG1 |
C |
T |
exonic |
synonymous SNV |
HEG1:NM_020733:exon16:c.G3882A:p.P1294P |
RS2270778 |
Triglycerides:Diabetic retinopathy
in Type 2 diabetes mellitus:Mitral annular calcium |
|
3 |
124728626 |
2 |
HEG1 |
A |
G |
exonic |
nonsynonymous SNV |
HEG1:NM_020733:exon8:c.T3116C:p.M1039T |
RS6438869 |
Gene expression of MUC13 in blood
cells in Celiac disease:Schizophrenia:Total cholesterol:Obsessive-compulsive
disorder (OCD) |
|
3 |
125726048 |
2 |
SLC41A3 |
G |
C |
exonic |
synonymous SNV |
SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L |
RS2279819 |
Fasting blood glucose:Gene
expression of SLC41A3 [probe 219175_s_at] in prefrontal cortex:Gene
expression of SLC41A3 in peripheral blood monocytes:Body mass index
(BMI):Systolic blood pressure (SBP) |
|
3 |
125786879 |
2 |
SLC41A3 |
T |
C |
exonic |
nonsynonymous SNV |
SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A |
RS4234270 |
Salmonella-induced pyroptosis |
|
3 |
126194076 |
2 |
ZXDC |
T |
C |
exonic |
synonymous SNV |
ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P |
|
3 |
126260608 |
1 |
CHST13 |
G |
T |
exonic |
synonymous SNV |
CHST13:NM_152889:exon3:c.G213T:p.R71R |
|
3 |
126261202 |
1 |
CHST13 |
G |
A |
exonic |
synonymous SNV |
CHST13:NM_152889:exon3:c.G807A:p.T269T |
|
3 |
126261207 |
1 |
CHST13 |
C |
T |
exonic |
nonsynonymous SNV |
CHST13:NM_152889:exon3:c.C812T:p.A271V |
|
3 |
126261345 |
1 |
CHST13 |
G |
A |
exonic |
nonsynonymous SNV |
CHST13:NM_152889:exon3:c.G950A:p.R317Q |
RS1056522 |
Stabilized warfarin dose:Gene
expression of CHST13 in blood cells in Celiac disease:Alzheimer's
disease:Gene expression of CHST13 in CD4+ lymphocytes:Gene expression of
CHST13 in blood:Gene expression of CHST13 [probeset 239647_at] in
sputum:Paternal transmission distortion:Parkinson's disease:Birth weight |
|
3 |
126329910 |
2 |
TXNRD3 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS777241 |
Total cholesterol:Gene expression
of CHST13 in peripheral blood monocytes:Body mass index (BMI) |
|
3 |
126451937 |
1 |
CHCHD6 |
G |
T |
exonic |
nonsynonymous SNV |
CHCHD6:NM_001320610:exon4:c.G283T:p.A95S,CHCHD6:NM_032343:exon4:c.G283T:p.A95S |
RS2272487 |
Lp-PLA2 mass:Asthma:Late onset
Alzheimer's disease:Systolic blood pressure (SBP):Obesity with early age of
onset (age >2):Aortic valve calcium:Hypertension (early onset
hypertension) |
|
3 |
126708453 |
1 |
PLXNA1 |
T |
C |
exonic |
synonymous SNV |
PLXNA1:NM_032242:exon1:c.T1017C:p.T339T |
|
3 |
126726705 |
1 |
PLXNA1 |
A |
G |
exonic |
synonymous SNV |
PLXNA1:NM_032242:exon8:c.A2061G:p.T687T |
|
3 |
126735453 |
1 |
PLXNA1 |
C |
T |
exonic |
synonymous SNV |
PLXNA1:NM_032242:exon15:c.C3108T:p.T1036T |
|
3 |
126737268 |
2 |
PLXNA1 |
C |
A |
exonic |
synonymous SNV |
PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L |
RS4679323 |
Rheumatoid arthritis:Premature
ovarian failure:LDL cholesterol change with statins:Total
cholesterol:Tetrology of fallot:College completion:Mitral annular calcium |
|
3 |
126741011 |
1 |
PLXNA1 |
G |
A |
exonic |
synonymous SNV |
PLXNA1:NM_032242:exon21:c.G4122A:p.T1374T |
RS9289290 |
Years of education:Aortic valve
calcium |
|
3 |
127323830 |
1 |
MCM2 |
C |
T |
exonic |
synonymous SNV |
MCM2:NM_004526:exon4:c.C504T:p.I168I |
RS893293 |
HOMA-B:Gene expression of GPR175 in
peripheral blood monocytes:Gene expression of ABTB1 in peripheral blood
monocytes:Gene expression of ABTB1 (ENSG00000114626) in dendritic cells
treated with Mycobacterium tuberculosis |
|
3 |
127816187 |
1 |
RUVBL1 |
A |
T |
exonic |
synonymous SNV |
RUVBL1:NM_001319084:exon8:c.T972A:p.A324A,RUVBL1:NM_001319086:exon8:c.T792A:p.A264A,RUVBL1:NM_003707:exon8:c.T972A:p.A324A |
|
3 |
127983495 |
2 |
EEFSEC |
T |
C |
exonic |
synonymous SNV |
EEFSEC:NM_021937:exon4:c.T657C:p.D219D |
RS2811544 |
Total cholesterol:Parkinson's
disease |
|
3 |
128344786 |
1 |
RPN1 |
G |
A |
exonic |
synonymous SNV |
RPN1:NM_002950:exon7:c.C1206T:p.D402D |
RS1126828 |
Refractive error:Adiponectin
levels:Obesity with early age of onset (age >2) |
|
3 |
128356852 |
1 |
RPN1 |
C |
T |
exonic |
synonymous SNV |
RPN1:NM_002950:exon3:c.G423A:p.P141P |
|
3 |
128614185 |
1 |
ACAD9 |
A |
C |
exonic |
synonymous SNV |
ACAD9:NM_014049:exon4:c.A379C:p.R127R |
RS1680778 |
LDL cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
3 |
128627933 |
1 |
ACAD9 |
C |
T |
exonic |
synonymous SNV |
ACAD9:NM_014049:exon14:c.C1476T:p.P492P |
RS876755 |
LDL cholesterol:Lung function,
predicted ratio of forced expiratory volume in 1 second (FEV1) to forced
vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Total
cholesterol:IGP69:Advanced age-related macular degeneration |
|
3 |
128890350 |
2 |
CNBP |
G |
A |
exonic |
synonymous SNV |
CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D |
RS4303883 |
Height |
|
3 |
129058882 |
2 |
|
3 |
129155670 |
1 |
MBD4 |
C |
T |
exonic |
nonsynonymous SNV |
MBD4:NM_001276270:exon3:c.G817A:p.A273T,MBD4:NM_001276271:exon3:c.G817A:p.A273T,MBD4:NM_001276272:exon3:c.G817A:p.A273T,MBD4:NM_003925:exon3:c.G817A:p.A273T |
RS10342 |
Gene expression of IFT122 in normal
prepouch ileum |
|
3 |
129275206 |
1 |
PLXND1 |
C |
T |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon36:c.G5727A:p.Q1909Q |
RS11920311 |
LDL cholesterol:Total
cholesterol:Triglycerides:Microalbuminuria:Bipolar disorder:Obesity with
early age of onset (age >2):Refractive error |
|
3 |
129281980 |
2 |
PLXND1 |
C |
T |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon26:c.G4625A:p.S1542N |
|
3 |
129284818 |
1 |
PLXND1 |
A |
C |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon24:c.T4234G:p.L1412V |
RS2625973 |
Triglycerides:Fasting
insulin:HOMA-IR:Fasting blood glucose:Triglycerides:Height:Adiponectin levels |
|
3 |
129286413 |
1 |
PLXND1 |
G |
C |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon22:c.C4008G:p.L1336L |
RS2245285 |
Type 2 diabetes:Fasting blood
glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Waist hip
ratio:Adiponectin levels |
|
3 |
129291751 |
1 |
PLXND1 |
T |
C |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon14:c.A2871G:p.P957P |
RS2244708 |
Fasting blood
glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Height:Waist
hip ratio:Coronary artery disease (CAD):Adiponectin levels |
|
3 |
129293256 |
1 |
PLXND1 |
T |
C |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon12:c.A2608G:p.M870V |
RS2255703 |
Triglycerides:Differential exon
level expression of PLXND1 [probe 2694874] in brain cortex:Fasting blood
glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Height:Waist
hip ratio:Gene expression of IFT122 in blood:Serum ratio of (1-myristoylglycerophosphocholine)/(10-nonadecenoate
(19:1n9)):Advanced age-related macular degeneration (geographic
atrophy):Adiponectin levels:Refractive error:Tetrology of fallot |
|
3 |
129297223 |
1 |
PLXND1 |
C |
G |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon9:c.G2295C:p.T765T |
|
3 |
129324193 |
2 |
PLXND1 |
A |
G |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon1:c.T1290C:p.C430C |
|
3 |
129546729 |
2 |
TMCC1 |
T |
C |
exonic |
nonsynonymous SNV |
TMCC1:NM_001128224:exon3:c.A151G:p.S51G,TMCC1:NM_001349268:exon3:c.A493G:p.S165G,TMCC1:NM_001017395:exon4:c.A493G:p.S165G,TMCC1:NM_001349264:exon4:c.A493G:p.S165G,TMCC1:NM_001349265:exon4:c.A493G:p.S165G,TMCC1:NM_001349270:exon4:c.A151G:p.S51G,TMCC1:NM_001349263:exon5:c.A493G:p.S165G,TMCC1:NM_001349266:exon5:c.A493G:p.S165G,TMCC1:NM_001349269:exon5:c.A151G:p.S51G |
|
3 |
129810127 |
2 |
ALG1L2 |
C |
T |
exonic |
nonsynonymous SNV |
ALG1L2:NM_001136152:exon2:c.C44T:p.P15L |
|
3 |
129810174 |
2 |
ALG1L2 |
T |
C |
exonic |
nonsynonymous SNV |
ALG1L2:NM_001136152:exon2:c.T91C:p.F31L |
|
3 |
129810183 |
2 |
ALG1L2 |
C |
G |
exonic |
nonsynonymous SNV |
ALG1L2:NM_001136152:exon2:c.C100G:p.L34V |
|
3 |
129813318 |
2 |
ALG1L2 |
T |
C |
exonic |
nonsynonymous SNV |
ALG1L2:NM_001136152:exon5:c.T386C:p.I129T |
|
3 |
131102053 |
1 |
NUDT16 |
A |
G |
exonic |
synonymous SNV |
NUDT16:NM_001171905:exon3:c.A318G:p.V106V,NUDT16:NM_152395:exon3:c.A456G:p.V152V |
|
3 |
132257069 |
1 |
DNAJC13 |
G |
A |
exonic |
nonsynonymous SNV |
DNAJC13:NM_015268:exon56:c.G6675A:p.M2225I,DNAJC13:NM_001329126:exon57:c.G6690A:p.M2230I |
|
3 |
132277866 |
1 |
ACAD11 |
G |
A |
exonic |
synonymous SNV |
ACAD11:NM_032169:exon20:c.C2292T:p.I764I |
RS2270801 |
Rheumatoid arthritis:2 hour
glucose:Fasting insulin:HOMA-B:HOMA-IR:Chronic kidney
disease:Triglycerides:Total cholesterol:LDL cholesterol:Height:Gene
expression of NPHP3 in blood:Infant head circumference |
|
3 |
132338346 |
1 |
ACAD11 |
T |
G |
exonic |
nonsynonymous SNV |
ACAD11:NM_032169:exon10:c.A1241C:p.K414T |
|
3 |
132360883 |
2 |
ACAD11 |
C |
T |
exonic |
nonsynonymous SNV |
ACAD11:NM_032169:exon4:c.G470A:p.R157H |
|
3 |
133329943 |
2 |
TOPBP1 |
G |
A |
exonic |
synonymous SNV |
TOPBP1:NM_007027:exon25:c.C4078T:p.L1360L |
RS1444601 |
Rheumatoid arthritis:Neuroblastoma
(brain cancer):Late onset Alzheimer's disease:Gene expression of TOPBP1
[transcript NM_007027, probe A_23_P159390] in liver:Gene expression of CDV3
in blood:Years of education |
|
3 |
133368362 |
2 |
TOPBP1 |
T |
G |
exonic |
nonsynonymous SNV |
TOPBP1:NM_007027:exon10:c.A1369C:p.K457Q |
RS3192149 |
Schizophrenia:Rheumatoid
arthritis:Neuroblastoma (brain cancer):Microalbuminuria:Late onset
Alzheimer's disease:Gene expression of CDV3 in blood:Years of
education:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
3 |
133485133 |
2 |
TF |
A |
G |
exonic |
nonsynonymous SNV |
TF:NM_001063:exon12:c.A1342G:p.I448V |
|
3 |
133921601 |
1 |
RYK |
C |
T |
exonic |
unknown |
UNKNOWN |
|
3 |
133941320 |
1 |
RYK |
C |
T |
exonic |
unknown |
UNKNOWN |
RS1131262 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio:Mitral annular calcium |
|
3 |
134077470 |
2 |
AMOTL2 |
C |
G |
exonic |
nonsynonymous SNV |
AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D |
RS1353776 |
Height:Body mass index
(BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education |
|
3 |
136573440 |
1 |
SLC35G2 |
A |
G |
exonic |
synonymous SNV |
SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G |
RS9827648 |
Gene expression of probe 228799_at
in lymphoblastoid cell lines:HDL cholesterol:Height:Body mass index
(BMI):Birth weight |
|
3 |
136574501 |
1 |
SLC35G2 |
A |
G |
exonic |
nonsynonymous SNV |
SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R |
RS1052618 |
Gene expression of probe 228799_at
in lymphoblastoid cell lines:Schizophrenia:HDL cholesterol:Height:Body mass
index (BMI):Gene expression of FNDC6 [probe ILMN_26767] in osteoblasts
treated with BMP2:Resistance to kuru in aged women despite likely exposure:Birth
weight:Hypertension (early onset hypertension) |
|
3 |
137880743 |
1 |
DBR1 |
G |
A |
exonic |
synonymous SNV |
DBR1:NM_016216:exon8:c.C1623T:p.D541D |
RS2622736 |
PROP taste detection threshold |
|
3 |
137881265 |
1 |
DBR1 |
T |
A |
exonic |
synonymous SNV |
DBR1:NM_016216:exon8:c.A1101T:p.T367T |
|
3 |
138289221 |
1 |
CEP70 |
C |
T |
exonic |
nonsynonymous SNV |
CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N |
RS1673607 |
LDL cholesterol:Differential exon
level expression of CEP70 [probe 2697514] in brain cortex:Differential exon
level expression of CEP70 [probe 2697514] in peripheral blood mononuclear
cells:HOMA-IR:Total cholesterol:LDL cholesterol:Gene expression of FAIM in
CD4+ lymphocytes:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID
ILMN_1723268) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
FAIM (probeID ILMN_1723268) in cerebellum in non-Alzheimer's disease
samples:Birth weight:Gene expression of FAIM (probeID ILMN_1690101) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases:Gene
expression of FAIM (probeID ILMN_1690101) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in
temporal cortex in Alzheimer's disease cases |
|
3 |
142168331 |
2 |
ATR |
C |
T |
exonic |
synonymous SNV |
ATR:NM_001184:exon47:c.G7875A:p.Q2625Q |
|
3 |
142277536 |
2 |
ATR |
A |
G |
exonic |
synonymous SNV |
ATR:NM_001184:exon8:c.T1815C:p.D605D |
RS2227929 |
Gene expression of LXN in
peripheral blood monocytes:Gene expression of PHF7 in peripheral blood
monocytes:Gene expression of GART in peripheral blood monocytes:Body mass
index (BMI) |
|
3 |
142281612 |
2 |
ATR |
A |
G |
exonic |
nonsynonymous SNV |
ATR:NM_001184:exon4:c.T632C:p.M211T |
RS2227928 |
Differential exon level expression
of ATR [probe 2698921] in peripheral blood mononuclear cells:Differential
exon level expression of ATR [probe 2698921] in brain cortex:Parkinson's
disease (PD):Triglycerides change with statins:Total cholesterol:Triglycerides:LDL
cholesterol:Gene expression of ATR in blood:Serum ratio of
(allantoin)/(ornithine):Gene expression of PLS1 (ENSG00000120756) in
dendritic cells treated with Mycobacterium tuberculosis:Mean corpuscular
volume (MCV):Mean corpuscular hemoglobin concentration (MCHC) |
|
3 |
142408606 |
1 |
PLS1 |
G |
A |
exonic |
synonymous SNV |
PLS1:NM_001145319:exon10:c.G1128A:p.P376P,PLS1:NM_001172312:exon10:c.G1128A:p.P376P,PLS1:NM_002670:exon10:c.G1128A:p.P376P |
RS6793735 |
Cystatin C in serum:Total
cholesterol:LDL cholesterol:Triglycerides:Mean corpuscular volume (MCV) |
|
3 |
143704516 |
2 |
C3orf58 |
C |
T |
exonic |
synonymous SNV |
C3orf58:NM_001134470:exon2:c.C162T:p.L54L,C3orf58:NM_173552:exon2:c.C789T:p.L263L |
RS9847681 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:Serum creatinine:HDL cholesterol |
|
3 |
148876582 |
1 |
HPS3 |
C |
G |
exonic |
nonsynonymous SNV |
HPS3:NM_001308258:exon9:c.C1326G:p.I442M,HPS3:NM_032383:exon10:c.C1821G:p.I607M |
|
3 |
148916235 |
2 |
CP |
T |
A |
exonic |
nonsynonymous SNV |
CP:NM_000096:exon9:c.A1632T:p.E544D |
RS701753 |
Serum creatinine |
|
3 |
149192676 |
2 |
TM4SF4 |
G |
A |
exonic |
synonymous SNV |
TM4SF4:NM_004617:exon1:c.G12A:p.G4G |
RS12488126 |
Triglycerides:HOMA-B:HDL
cholesterol:Triglycerides change with statins:HDL cholesterol change with
statins |
|
3 |
149678534 |
1 |
RNF13 |
C |
T |
exonic |
synonymous SNV |
RNF13:NM_183381:exon10:c.C789T:p.H263H,RNF13:NM_007282:exon11:c.C789T:p.H263H |
RS6768054 |
Irritible bowel syndrome:Tardive
dyskinesia:Gene expression of COMMD2 in peripheral blood
monocytes:Triglycerides:Stroke (pediatric stroke) |
|
3 |
153994596 |
2 |
|
3 |
154018887 |
1 |
DHX36 |
G |
C |
exonic |
nonsynonymous SNV |
DHX36:NM_001114397:exon10:c.C1247G:p.S416C,DHX36:NM_020865:exon10:c.C1247G:p.S416C |
RS9438 |
LDL cholesterol:Body mass index
(BMI):Years of education |
|
3 |
155481609 |
1 |
C3orf33 |
G |
A |
exonic |
synonymous SNV |
C3orf33:NM_001308229:exon5:c.C582T:p.Y194Y,C3orf33:NM_173657:exon6:c.C453T:p.Y151Y |
RS7653384 |
Body mass index (BMI) |
|
3 |
155485302 |
2 |
C3orf33 |
C |
T |
exonic |
nonsynonymous SNV |
C3orf33:NM_001308229:exon4:c.G479A:p.S160N,C3orf33:NM_173657:exon5:c.G350A:p.S117N |
RS358733 |
Amyotrophic lateral sclerosis
(ALS):Gene expression of HIST1H2BE in peripheral blood monocytes:Partial
epilepsy:Waist hip ratio:Gene expression of C3orf33 [transcript NM_173657,
probe A_23_P301476] in liver:Years of education |
|
3 |
155571275 |
1 |
SLC33A1 |
T |
C |
exonic |
nonsynonymous SNV |
SLC33A1:NM_001190992:exon1:c.A512G:p.D171G,SLC33A1:NM_004733:exon1:c.A512G:p.D171G |
RS3804769 |
Abnormal Involuntary Movement Scale |
|
3 |
158362441 |
1 |
GFM1 |
T |
C |
exonic |
synonymous SNV |
GFM1:NM_001308164:exon1:c.T18C:p.A6A,GFM1:NM_001308166:exon1:c.T18C:p.A6A,GFM1:NM_024996:exon1:c.T18C:p.A6A |
RS1864507 |
Total cholesterol:Gene expression
of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal
cortex in Alzheimer's disease cases and controls:Infant head circumference |
|
3 |
158366900 |
1 |
GFM1 |
G |
A |
exonic |
nonsynonymous SNV |
GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I |
RS2303909 |
Triglycerides:Total
cholesterol:Triglycerides:Gene expression of GFM1 [probe ILMN_9765] in
osteoblasts treated with PGE2:Gene expression of MFSD1 [probe ILMN_29705] in
osteoblasts treated with BMP2:Gene expression of LXN///GFM1 in blood:Gene
expression of GFM1 in blood:Diastolic blood pressure (DBP):Hypertension
(early onset hypertension):Gene expression of RARRES1 (probeID ILMN_1800091)
in cerebellum in Alzheimer's disease cases:Gene expression of RARRES1
(probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in
non-Alzheimer's disease samples:Gene expression of RARRES1 (probeID
ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of RARRES1 (probeID ILMN_1800091) in
temporal cortex in Alzheimer's disease cases:Gene expression of RARRES1
(probeID ILMN_1800091) in temporal cortex in Progressive Supranuclear Palsy
cases |
|
3 |
158538056 |
1 |
MFSD1 |
T |
C |
exonic |
synonymous SNV |
MFSD1:NM_001167903:exon8:c.T834C:p.L278L,MFSD1:NM_001289406:exon8:c.T513C:p.L171L,MFSD1:NM_001289407:exon9:c.T585C:p.L195L,MFSD1:NM_022736:exon9:c.T951C:p.L317L |
|
3 |
170078232 |
2 |
SKIL |
C |
T |
exonic |
nonsynonymous SNV |
SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V |
RS3772173 |
HDL cholesterol change with
statins:Chronic kidney disease:Serum creatinine:HDL cholesterol:Triglycerides |
|
3 |
171338237 |
1 |
PLD1 |
T |
G |
exonic |
synonymous SNV |
PLD1:NM_001130081:exon23:c.A2553C:p.V851V,PLD1:NM_002662:exon24:c.A2667C:p.V889V |
RS9881788 |
Alzheimer's disease:LDL cholesterol
change with statins:Total cholesterol change with statins:LDL
cholesterol:Total cholesterol:Variant Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration:Adiponectin levels:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Refractive
error |
|
3 |
171969077 |
2 |
FNDC3B |
C |
G |
exonic |
nonsynonymous SNV |
FNDC3B:NM_001135095:exon6:c.C536G:p.T179S,FNDC3B:NM_022763:exon6:c.C536G:p.T179S |
RS7652177 |
2 hour glucose:HOMA-IR:Fasting
insulin:Height:Urinary albumin-to-creatinine ratio:Parkinson's disease |
|
3 |
172224303 |
2 |
TNFSF10 |
A |
G |
exonic |
synonymous SNV |
TNFSF10:NM_003810:exon5:c.T825C:p.F275F |
RS1131532 |
Height |
|
3 |
172365832 |
1 |
NCEH1 |
T |
G |
exonic |
nonsynonymous SNV |
NCEH1:NM_001146276:exon2:c.A307C:p.K103Q,NCEH1:NM_020792:exon2:c.A307C:p.K103Q |
RS2302815 |
Arthritis including
non-Rheumatoid:Total cholesterol:Aortic valve calcium |
|
3 |
179051472 |
1 |
ZNF639 |
A |
G |
exonic |
synonymous SNV |
ZNF639:NM_001303426:exon6:c.A720G:p.E240E,ZNF639:NM_001303425:exon7:c.A720G:p.E240E,ZNF639:NM_016331:exon7:c.A720G:p.E240E |
|
3 |
179096508 |
2 |
MFN1 |
C |
G |
exonic |
nonsynonymous SNV |
MFN1:NM_033540:exon14:c.C1568G:p.P523R |
|
3 |
179298999 |
2 |
ACTL6A |
C |
T |
exonic |
synonymous SNV |
ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D |
RS1132429 |
Years of education |
|
3 |
182681740 |
2 |
DCUN1D1 |
C |
T |
exonic |
synonymous SNV |
DCUN1D1:NM_001308101:exon3:c.G273A:p.A91A,DCUN1D1:NM_020640:exon3:c.G318A:p.A106A |
RS4859146 |
2 hour glucose:Parkinson's
disease:Acute lung injury following major trauma:Attention
deficit-hyperactivity disorder (ADHD) combined subtype |
|
3 |
182790249 |
1 |
MCCC1 |
G |
A |
exonic |
synonymous SNV |
MCCC1:NM_020166:exon5:c.C396T:p.L132L |
RS7622479 |
Fasting insulin:HOMA-IR:Fasting
blood glucose:Triglycerides:College completion |
|
3 |
183368216 |
1 |
KLHL24 |
A |
T |
exonic |
synonymous SNV |
KLHL24:NM_001349415:exon2:c.A72T:p.R24R,KLHL24:NM_001349421:exon2:c.A72T:p.R24R,KLHL24:NM_001349423:exon2:c.A72T:p.R24R,KLHL24:NM_001349426:exon2:c.A72T:p.R24R,KLHL24:NM_001349413:exon3:c.A72T:p.R24R,KLHL24:NM_001349414:exon3:c.A72T:p.R24R,KLHL24:NM_001349416:exon3:c.A72T:p.R24R,KLHL24:NM_001349422:exon3:c.A72T:p.R24R,KLHL24:NM_001349424:exon3:c.A72T:p.R24R,KLHL24:NM_001349425:exon3:c.A72T:p.R24R,KLHL24:NM_017644:exon3:c.A72T:p.R24R,KLHL24:NM_001349417:exon4:c.A72T:p.R24R,KLHL24:NM_001349418:exon4:c.A72T:p.R24R,KLHL24:NM_001349419:exon4:c.A72T:p.R24R,KLHL24:NM_001349420:exon4:c.A72T:p.R24R,KLHL24:NM_001349427:exon4:c.A72T:p.R24R |
RS3755648 |
Fasting insulin:Height:Body mass
index (BMI) |
|
3 |
183521939 |
2 |
YEATS2 |
C |
T |
exonic |
synonymous SNV |
YEATS2:NM_001351369:exon27:c.C3747T:p.S1249S,YEATS2:NM_001351370:exon27:c.C3750T:p.S1250S,YEATS2:NM_018023:exon27:c.C3747T:p.S1249S |
|
3 |
183584473 |
1 |
PARL |
A |
G |
exonic |
synonymous SNV |
PARL:NM_001037639:exon3:c.T402C:p.G134G,PARL:NM_001324436:exon3:c.T402C:p.G134G,PARL:NM_001324437:exon3:c.T402C:p.G134G,PARL:NM_001324438:exon3:c.T402C:p.G134G,PARL:NM_018622:exon3:c.T402C:p.G134G |
|
3 |
183660585 |
1 |
ABCC5 |
G |
A |
exonic |
synonymous SNV |
ABCC5:NM_001320032:exon25:c.C2208T:p.L736L,ABCC5:NM_005688:exon25:c.C3624T:p.L1208L |
RS3749442 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Eye color:2 hour glucose:Gene expression
of ABCC5 in blood:Serum ratio of
(1-docosahexaenoylglycerophosphocholine*)/(2-linoleoylglycerophosphocholine*):PROP
taste detection threshold:Hypertension (early onset hypertension):Diabetic
retinopathy in Type 2 diabetes mellitus |
|
3 |
183696402 |
2 |
ABCC5 |
A |
G |
exonic |
synonymous SNV |
ABCC5:NM_005688:exon9:c.T1185C:p.A395A |
RS1132776 |
Body mass index (BMI):Bipolar
disorder |
|
3 |
183904049 |
1 |
ABCF3 |
A |
G |
exonic |
synonymous SNV |
ABCF3:NM_001351298:exon1:c.A54G:p.Q18Q,ABCF3:NM_018358:exon1:c.A54G:p.Q18Q |
RS11539876 |
Serum ratio of
(glycodeoxycholate)/(thromboxane B2):Sporadic Creutzfeldt-Jakob disease |
|
3 |
183975365 |
2 |
ECE2 |
C |
T |
exonic |
nonsynonymous SNV |
ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y |
RS7633387 |
Total cholesterol |
|
3 |
183976103 |
1 |
ECE2 |
C |
T |
exonic |
nonsynonymous SNV |
ECE2:NM_032331:exon3:c.C508T:p.R170W |
RS11546878 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression change of ALG3 (ENSG00000214160) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of ALG3 (ENSG00000214160) in dendritic cells treated with
Mycobacterium tuberculosis |
|
3 |
184020542 |
1 |
PSMD2 |
G |
T |
exonic |
nonsynonymous SNV |
PSMD2:NM_001278708:exon5:c.G549T:p.E183D,PSMD2:NM_001278709:exon5:c.G462T:p.E154D,PSMD2:NM_002808:exon7:c.G939T:p.E313D |
RS11545169 |
HDL cholesterol change with
statins:Height:Birth weight:Parkinson's disease:College completion:Years of
education |
|
3 |
184037533 |
2 |
EIF4G1 |
A |
G |
exonic |
nonsynonymous SNV |
EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A |
|
3 |
184039666 |
2 |
EIF4G1 |
A |
G |
exonic |
nonsynonymous SNV |
EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_001291157:exon10:c.A1174G:p.M392V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V |
RS2178403 |
Total
cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Neuroblastoma
(brain cancer):Gene expression of AP2M1 in blood:Gene expression of [probe
450403 centered at chr3:185509257] in blood:Gene expression of VWA5B2///ALG3
in blood:Parkinson's disease:Mitral annular calcium:Primary rhegmatogenous
retinal detachment |
|
3 |
184046470 |
1 |
EIF4G1 |
C |
T |
exonic |
synonymous SNV |
EIF4G1:NM_004953:exon20:c.C3420T:p.H1140H,EIF4G1:NM_198242:exon23:c.C3513T:p.H1171H,EIF4G1:NM_198244:exon24:c.C3744T:p.H1248H,EIF4G1:NM_182917:exon26:c.C4008T:p.H1336H,EIF4G1:NM_001194947:exon27:c.C4026T:p.H1342H,EIF4G1:NM_001291157:exon27:c.C3885T:p.H1295H,EIF4G1:NM_198241:exon27:c.C4005T:p.H1335H,EIF4G1:NM_001194946:exon28:c.C4026T:p.H1342H |
RS2230571 |
Longstanding arthritis:Rheumatoid
arthritis:Differential exon level expression of ECE2 [probe 2655640] in brain
cortex:Serum creatinine:Adolescent idiopathic scoliosis:Gene expression of
VWA5B2///ALG3 in blood:Gene expression of [probe 450403 centered at
chr3:185509257] in blood:Gene expression of AP2M1 in blood:College completion |
|
3 |
184098193 |
2 |
CHRD |
A |
C |
exonic |
synonymous SNV |
CHRD:NM_001304472:exon1:c.A87C:p.P29P,CHRD:NM_003741:exon1:c.A87C:p.P29P |
|
3 |
184099378 |
2 |
CHRD |
C |
A |
exonic |
synonymous SNV |
CHRD:NM_001304472:exon4:c.C477A:p.G159G,CHRD:NM_003741:exon4:c.C477A:p.G159G |
|
3 |
184428903 |
2 |
MAGEF1 |
T |
G |
exonic |
nonsynonymous SNV |
MAGEF1:NM_022149:exon1:c.A707C:p.E236A |
RS9872799 |
Schizophrenia:Chronic kidney
disease:Partial epilepsy:Comorbid depressive syndrome and alcohol
dependence:Adiponectin levels:Tetrology of fallot:Years of education:College
completion:Primary rhegmatogenous retinal detachment |
|
3 |
184429414 |
2 |
MAGEF1 |
C |
A |
exonic |
nonsynonymous SNV |
MAGEF1:NM_022149:exon1:c.G196T:p.A66S |
RS10937187 |
Rheumatoid
arthritis:Schizophrenia:Chronic kidney disease:Partial epilepsy:Serum
concentration of N-acetylornithine:Primary rhegmatogenous retinal
detachment:Adiponectin levels:Tetrology of fallot:Years of education |
|
3 |
184647413 |
2 |
VPS8 |
T |
C |
exonic |
synonymous SNV |
VPS8:NM_001349296:exon31:c.T2721C:p.D907D,VPS8:NM_001009921:exon32:c.T2760C:p.D920D,VPS8:NM_001349293:exon32:c.T2760C:p.D920D,VPS8:NM_001349294:exon32:c.T2760C:p.D920D,VPS8:NM_001349295:exon32:c.T2760C:p.D920D,VPS8:NM_001349297:exon32:c.T1041C:p.D347D,VPS8:NM_015303:exon32:c.T2754C:p.D918D,VPS8:NM_001349292:exon33:c.T2760C:p.D920D,VPS8:NM_001349298:exon33:c.T960C:p.D320D |
RS4643688 |
Triglycerides |
|
3 |
184910133 |
1 |
EHHADH |
G |
T |
exonic |
nonsynonymous SNV |
EHHADH:NM_001166415:exon7:c.C1765A:p.Q589K,EHHADH:NM_001966:exon7:c.C2053A:p.Q685K |
RS11919970 |
Premature ovarian failure:2 hour
glucose:HDL cholesterol:Height:Serum ratio of (10-heptadecenoate
(17:1n7))/(dihomo-linolenate (20:3n3 or n6)):Serum metabolite (mass spec
peak: 358.2 m/z) |
|
3 |
186301703 |
1 |
DNAJB11 |
A |
G |
exonic |
nonsynonymous SNV |
DNAJB11:NM_016306:exon8:c.A790G:p.I264V |
RS8147 |
Urinary albumin-to-creatinine
ratio:Gene expression of HRG [transcript NM_000412, probe A_32_P23172] in
liver:Serum concentration of ursodeoxycholate:Systolic blood pressure
(SBP):PROP taste detection threshold:Years of education:College completion |
|
3 |
186330969 |
1 |
AHSG |
C |
G |
exonic |
synonymous SNV |
AHSG:NM_001622:exon1:c.C39G:p.L13L |
RS4831 |
Systolic blood pressure (SBP):PROP
taste detection threshold:College completion:Adiponectin levels:Years of
education |
|
3 |
186337713 |
2 |
AHSG |
T |
C |
exonic |
nonsynonymous SNV |
AHSG:NM_001622:exon6:c.T743C:p.M248T |
RS4917 |
Spine bone mineral density (BMD):2
hour glucose:Serum ratio of
(1-oleoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Obesity
with early age of onset (age >2):Adiponectin levels:Activated partial
thromboplastin time:P02765 protein abundance levels |
|
3 |
186338382 |
2 |
AHSG |
G |
C |
exonic |
nonsynonymous SNV |
AHSG:NM_001622:exon7:c.G767C:p.S256T |
RS4918 |
2 hour glucose:Activated partial
thromboplastin time:Adiponectin levels:Obesity with early age of onset (age
>2):P02765 protein abundance levels |
|
3 |
186338425 |
2 |
AHSG |
A |
C |
exonic |
synonymous SNV |
AHSG:NM_001622:exon7:c.A810C:p.T270T |
RS1071592 |
HDL cholesterol change with
statins:P02765 protein abundance levels:Activated partial thromboplastin
time:Adiponectin levels:Infant head circumference |
|
3 |
186370333 |
2 |
FETUB |
G |
T |
exonic |
synonymous SNV |
FETUB:NM_001308079:exon5:c.G867T:p.V289V,FETUB:NM_001308077:exon6:c.G951T:p.V317V,FETUB:NM_014375:exon7:c.G1062T:p.V354V |
RS1131364 |
Triglycerides:Adiponectin
levels:Activated partial thromboplastin time |
|
3 |
186954285 |
2 |
MASP1 |
A |
G |
exonic |
synonymous SNV |
MASP1:NM_139125:exon11:c.T1374C:p.P458P |
|
3 |
187447002 |
1 |
BCL6 |
C |
G |
exonic |
nonsynonymous SNV |
BCL6:NM_001134738:exon4:c.G1191C:p.Q397H,BCL6:NM_001130845:exon5:c.G1191C:p.Q397H,BCL6:NM_001706:exon5:c.G1191C:p.Q397H |
|
3 |
187447032 |
1 |
BCL6 |
G |
A |
exonic |
synonymous SNV |
BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N |
RS1056932 |
LDL cholesterol:Total
cholesterol:Lp-PLA2 activity:Rheumatoid arthritis:HDL
cholesterol:Height:Suicide attempts in bipolar disorder (substance
free):Years of education:College completion |
|
3 |
190030680 |
2 |
CLDN1 |
A |
G |
exonic |
synonymous SNV |
CLDN1:NM_021101:exon2:c.T369C:p.G123G |
RS9869263 |
HOMA-B:Lung function, ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC) ratio percent predicted (in asthmatic participants):Lung function,
forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic
participants):Diabetic retinopathy in Type 2 diabetes mellitus |
|
3 |
190363594 |
1 |
IL1RAP |
G |
A |
exonic |
synonymous SNV |
IL1RAP:NM_001167929:exon10:c.G1308A:p.K436K,IL1RAP:NM_001167931:exon11:c.G1308A:p.K436K,IL1RAP:NM_002182:exon11:c.G1308A:p.K436K,IL1RAP:NM_001167928:exon12:c.G1308A:p.K436K |
|
3 |
191087740 |
1 |
CCDC50 |
A |
T |
exonic |
nonsynonymous SNV |
CCDC50:NM_174908:exon5:c.A363T:p.L121F,CCDC50:NM_178335:exon5:c.A363T:p.L121F |
|
3 |
191107358 |
1 |
CCDC50 |
C |
T |
exonic |
nonsynonymous SNV |
CCDC50:NM_174908:exon10:c.C868T:p.R290W,CCDC50:NM_178335:exon11:c.C1396T:p.R466W |
|
3 |
194061826 |
1 |
CPN2 |
C |
T |
exonic |
nonsynonymous SNV |
CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M |
RS11711157 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Spine bone mineral density (BMD):Hip
bone mineral density (BMD):Gene expression of probeset 2658628 in
osteoblasts:Gene expression of probeset 2711775 in lymphoblastoid cell
lines:Simpson-Angus Scale:HDL cholesterol change with statins:Advanced
age-related macular degeneration (geographic atrophy):Aortic valve
calcium:Mitral annular calcium:Advanced age-related macular degeneration |
|
3 |
194061906 |
2 |
CPN2 |
T |
C |
exonic |
nonsynonymous SNV |
CPN2:NM_001080513:exon2:c.A1526G:p.Q509R,CPN2:NM_001291988:exon2:c.A1526G:p.Q509R |
|
3 |
194061907 |
1 |
CPN2 |
G |
A |
exonic |
stopgain |
CPN2:NM_001080513:exon2:c.C1525T:p.Q509X,CPN2:NM_001291988:exon2:c.C1525T:p.Q509X |
|
3 |
194062519 |
1 |
CPN2 |
C |
T |
exonic |
nonsynonymous SNV |
CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T |
RS3732477 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Spine bone mineral density (BMD):Hip
bone mineral density (BMD):Gene expression of probeset 2658628 in
osteoblasts:Gene expression of probeset 2711775 in lymphoblastoid cell
lines:Simpson-Angus Scale:HDL cholesterol change with statins:Gene expression
of GJD3 in peripheral blood monocytes:Advanced age-related macular
degeneration (geographic atrophy):Mitral annular calcium:Advanced age-related
macular degeneration:Aortic valve calcium:Maternal transmission distortion |
|
3 |
194062565 |
2 |
CPN2 |
C |
T |
exonic |
synonymous SNV |
CPN2:NM_001080513:exon2:c.G867A:p.P289P,CPN2:NM_001291988:exon2:c.G867A:p.P289P |
RS3732476 |
Triglycerides:Diabetic retinopathy
in Type 2 diabetes mellitus |
|
3 |
194063153 |
1 |
CPN2 |
G |
A |
exonic |
synonymous SNV |
CPN2:NM_001080513:exon2:c.C279T:p.F93F,CPN2:NM_001291988:exon2:c.C279T:p.F93F |
RS3732474 |
HDL cholesterol change with
statins:Triglycerides change with statins:Advanced age-related macular
degeneration (geographic atrophy) |
|
3 |
194063300 |
2 |
CPN2 |
T |
C |
exonic |
synonymous SNV |
CPN2:NM_001080513:exon2:c.A132G:p.P44P,CPN2:NM_001291988:exon2:c.A132G:p.P44P |
|
3 |
194349178 |
2 |
TMEM44 |
C |
T |
exonic |
synonymous SNV |
TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A |
|
3 |
194373832 |
2 |
LSG1 |
T |
C |
exonic |
nonsynonymous SNV |
LSG1:NM_018385:exon8:c.A799G:p.K267E |
RS1675953 |
Chronic kidney disease:Serum
creatinine:Rheumatoid arthritis:Body mass index (BMI) |
|
3 |
194373833 |
2 |
LSG1 |
G |
A |
exonic |
synonymous SNV |
LSG1:NM_018385:exon8:c.C798T:p.T266T |
|
3 |
195452951 |
1 |
MUC20 |
G |
C |
exonic |
nonsynonymous SNV |
MUC20:NM_001282506:exon2:c.G1477C:p.D493H,MUC20:NM_001291833:exon4:c.G964C:p.D322H,MUC20:NM_020790:exon4:c.G1021C:p.D341H,MUC20:NM_152673:exon4:c.G964C:p.D322H |
|
3 |
195594805 |
1 |
TNK2 |
A |
G |
exonic |
synonymous SNV |
TNK2:NM_001308046:exon12:c.T2415C:p.A805A,TNK2:NM_005781:exon12:c.T2319C:p.A773A,TNK2:NM_001010938:exon13:c.T2553C:p.A851A |
|
3 |
195594950 |
1 |
TNK2 |
G |
A |
exonic |
nonsynonymous SNV |
TNK2:NM_001308046:exon12:c.C2270T:p.P757L,TNK2:NM_005781:exon12:c.C2174T:p.P725L,TNK2:NM_001010938:exon13:c.C2408T:p.P803L |
|
3 |
196460680 |
2 |
PIGX |
C |
T |
exonic |
synonymous SNV |
PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T |
|
3 |
196674518 |
1 |
PIGZ |
A |
G |
exonic |
nonsynonymous SNV |
PIGZ:NM_025163:exon3:c.T1250C:p.V417A |
RS1147238 |
Chronic kidney disease:Gene
expression of NCBP2 (ENSG00000114503) in dendritic cells treated with
Mycobacterium tuberculosis |
|
3 |
196674916 |
2 |
PIGZ |
A |
C |
exonic |
synonymous SNV |
PIGZ:NM_025163:exon3:c.T852G:p.A284A |
|
3 |
196674972 |
1 |
PIGZ |
C |
T |
exonic |
nonsynonymous SNV |
PIGZ:NM_025163:exon3:c.G796A:p.A266T |
|
3 |
196674973 |
1 |
PIGZ |
T |
C |
exonic |
synonymous SNV |
PIGZ:NM_025163:exon3:c.A795G:p.A265A |
|
3 |
196742290 |
2 |
MELTF |
T |
C |
exonic |
synonymous SNV |
MELTF:NM_005929:exon9:c.A1179G:p.P393P |
RS9855410 |
C4:1 / lysoPC a C6:0:C9:Gene
expression of SIT1 in peripheral blood monocytes |
|
3 |
197495334 |
2 |
FYTTD1 |
G |
A |
exonic |
nonsynonymous SNV |
FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H |
RS3205525 |
Arthritis including
non-Rheumatoid:Schizophrenia:HDL cholesterol:Height:Resistance to kuru in
aged women despite likely exposure:Aortic valve calcium |
|
4 |
673778 |
1 |
MYL5 |
T |
C |
exonic |
nonsynonymous SNV |
MYL5:NM_002477:exon4:c.T263C:p.F88S |
|
4 |
843508 |
1 |
GAK |
C |
T |
exonic |
nonsynonymous SNV |
GAK:NM_001318134:exon25:c.G3652A:p.D1218N,GAK:NM_005255:exon28:c.G3889A:p.D1297N |
RS1134921 |
Celiac
disease:Psoriasis:Triglycerides:HDL cholesterol:Differential exon level
expression of GAK [probe 2756747] in brain cortex:Gene expression of GAK in
blood:Gene expression of AC019103.4///DGKQ in blood:Parkinson's disease |
|
4 |
843695 |
1 |
GAK |
A |
G |
exonic |
synonymous SNV |
GAK:NM_001318134:exon24:c.T3582C:p.A1194A,GAK:NM_005255:exon27:c.T3819C:p.A1273A |
|
4 |
858941 |
2 |
GAK |
T |
C |
exonic |
synonymous SNV |
GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A |
|
4 |
860192 |
1 |
GAK |
A |
G |
exonic |
synonymous SNV |
GAK:NM_001318134:exon19:c.T2766C:p.S922S,GAK:NM_005255:exon22:c.T3003C:p.S1001S |
RS1064207 |
Triglycerides:Triglycerides:Parkinson's
disease |
|
4 |
982852 |
1 |
SLC26A1 |
G |
A |
exonic |
synonymous SNV |
SLC26A1:NM_022042:exon3:c.C1875T:p.A625A,SLC26A1:NM_213613:exon4:c.C1875T:p.A625A |
|
4 |
983060 |
1 |
SLC26A1 |
T |
C |
exonic |
nonsynonymous SNV |
SLC26A1:NM_022042:exon3:c.A1667G:p.Q556R,SLC26A1:NM_213613:exon4:c.A1667G:p.Q556R |
RS3796622 |
Gene expression of DGKQ [probe
226605_at] in lymphoblastoid cell lines:Triglycerides:Gene expression of DGKQ
in blood cells in Celiac disease:Total cholesterol:Autism with verbal
ability:Gene expression of DGKQ in CD4+ lymphocytes:Asthma:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of IDUA in blood:Gene expression
of AC019103.4///DGKQ in blood:Serum concentration of
1-arachidonoylglycerophosphoinositol*:Infant head circumference |
|
4 |
983809 |
1 |
SLC26A1 |
C |
T |
exonic |
synonymous SNV |
SLC26A1:NM_022042:exon3:c.G918A:p.S306S,SLC26A1:NM_213613:exon4:c.G918A:p.S306S |
RS4690221 |
Comorbid depressive syndrome and
alcohol dependence:Salmonella-induced pyroptosis |
|
4 |
1006333 |
1 |
FGFRL1 |
G |
A |
exonic |
synonymous SNV |
FGFRL1:NM_021923:exon1:c.G60A:p.P20P,FGFRL1:NM_001004356:exon2:c.G60A:p.P20P,FGFRL1:NM_001004358:exon2:c.G60A:p.P20P |
|
4 |
1330759 |
1 |
MAEA |
T |
C |
exonic |
nonsynonymous SNV |
MAEA:NM_001297431:exon5:c.T676C:p.W226R |
|
4 |
1343405 |
1 |
UVSSA |
T |
C |
exonic |
synonymous SNV |
UVSSA:NM_001317934:exon3:c.T192C:p.I64I,UVSSA:NM_001317935:exon3:c.T192C:p.I64I,UVSSA:NM_020894:exon3:c.T192C:p.I64I |
RS2276903 |
Fasting blood
glucose:HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Gene
expression of CRIPAK in peripheral blood monocytes:Gene expression of AVP in
peripheral blood monocytes:Gene expression of SPTBN4 in peripheral blood
monocytes:Bipolar disorder |
|
4 |
1374695 |
2 |
UVSSA |
C |
A |
exonic |
synonymous SNV |
UVSSA:NM_001317934:exon12:c.C1780A:p.R594R,UVSSA:NM_001317935:exon12:c.C1780A:p.R594R,UVSSA:NM_020894:exon12:c.C1780A:p.R594R |
|
4 |
1377615 |
2 |
UVSSA |
A |
G |
exonic |
synonymous SNV |
UVSSA:NM_001317934:exon13:c.A1923G:p.S641S,UVSSA:NM_001317935:exon13:c.A1923G:p.S641S,UVSSA:NM_020894:exon13:c.A1923G:p.S641S |
|
4 |
1701317 |
1 |
SLBP |
G |
A |
exonic |
synonymous SNV |
SLBP:NM_001306074:exon4:c.C348T:p.Y116Y,SLBP:NM_001306075:exon4:c.C336T:p.Y112Y,SLBP:NM_006527:exon5:c.C453T:p.Y151Y |
RS2247341 |
Triglycerides change with
statins:Height:Gene expression:Suicide attempts in bipolar disorder:Suicide
attempts in mood disorder patients:Alcohol dependence symptoms:Diastolic
blood pressure (DBP):Height:Lung function, forced expiratory volume in 1
second (FEV1):Height |
|
4 |
1729660 |
1 |
TACC3 |
C |
T |
exonic |
synonymous SNV |
TACC3:NM_006342:exon4:c.C531T:p.S177S |
RS1063742 |
LDL cholesterol:HDL cholesterol
change with statins:Serum creatinine:Height:Urinary albumin-to-creatinine
ratio |
|
4 |
1729953 |
1 |
TACC3 |
G |
A |
exonic |
nonsynonymous SNV |
TACC3:NM_006342:exon4:c.G824A:p.C275Y |
|
4 |
1729988 |
1 |
TACC3 |
G |
A |
exonic |
nonsynonymous SNV |
TACC3:NM_006342:exon4:c.G859A:p.G287S |
RS1063743 |
HDL cholesterol change with
statins:Serum creatinine:Height:Urinary albumin-to-creatinine ratio |
|
4 |
1730299 |
1 |
TACC3 |
A |
G |
exonic |
synonymous SNV |
TACC3:NM_006342:exon4:c.A1170G:p.A390A |
RS798759 |
Serum creatinine:Methylation levels
at chr4:1694197-1694247 [hg18 coord, probe cg02089348] in
Cerebellum:Height:Urinary albumin-to-creatinine ratio:Advanced age-related
macular degeneration:Mitral annular calcium |
|
4 |
1732978 |
1 |
TACC3 |
G |
A |
exonic |
nonsynonymous SNV |
TACC3:NM_006342:exon6:c.G1541A:p.G514E |
RS17680881 |
LDL cholesterol:HOMA-IR |
|
4 |
1737502 |
1 |
TACC3 |
C |
T |
exonic |
synonymous SNV |
TACC3:NM_006342:exon8:c.C1689T:p.F563F |
RS11248073 |
Height:Suicide attempts in bipolar
disorder:Suicide attempts in mood disorder patients:Diastolic blood pressure
(DBP) |
|
4 |
1741437 |
1 |
TACC3 |
G |
T |
exonic |
synonymous SNV |
TACC3:NM_006342:exon11:c.G1950T:p.A650A |
|
4 |
1807894 |
2 |
FGFR3 |
G |
A |
exonic |
synonymous SNV |
FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T |
|
4 |
1818594 |
2 |
LETM1 |
C |
T |
exonic |
synonymous SNV |
LETM1:NM_012318:exon12:c.G1791A:p.K597K |
|
4 |
2044128 |
2 |
C4orf48 |
C |
T |
exonic |
nonsynonymous SNV |
C4orf48:NM_001141936:exon2:c.C50T:p.P17L,C4orf48:NM_001168243:exon2:c.C149T:p.P50L |
|
4 |
2743999 |
2 |
TNIP2 |
A |
G |
exonic |
synonymous SNV |
TNIP2:NM_001292016:exon5:c.T1026C:p.A342A,TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A |
RS232712 |
LDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's
disease:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
4 |
2744087 |
2 |
TNIP2 |
G |
A |
exonic |
nonsynonymous SNV |
TNIP2:NM_001292016:exon5:c.C938T:p.A313V,TNIP2:NM_001161527:exon6:c.C866T:p.A289V,TNIP2:NM_024309:exon6:c.C1187T:p.A396V |
RS2269495 |
Rheumatoid
arthritis:Asparagine:tau-Methylhistidine:College completion:Mitral annular
calcium:Years of education:Birth weight |
|
4 |
2826400 |
2 |
SH3BP2 |
T |
C |
exonic |
synonymous SNV |
SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H |
RS3213501 |
HDL
cholesterol:Triglycerides:Advanced age-related macular degeneration:Gene
expression of ADD1 (ENSG00000087274) in dendritic cells:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
4 |
2831383 |
2 |
SH3BP2 |
T |
G |
exonic |
synonymous SNV |
SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A |
RS231399 |
Arthritis including
non-Rheumatoid:HOMA-IR:Fasting insulin:HOMA-B |
|
4 |
2935618 |
1 |
MFSD10 |
C |
G |
exonic |
synonymous SNV |
MFSD10:NM_001120:exon1:c.G33C:p.P11P,MFSD10:NM_001146069:exon2:c.G33C:p.P11P |
|
4 |
3219613 |
2 |
HTT |
A |
C |
exonic |
synonymous SNV |
HTT:NM_002111:exon52:c.A7176C:p.L2392L |
|
4 |
3231661 |
1 |
HTT |
G |
A |
exonic |
synonymous SNV |
HTT:NM_002111:exon60:c.G8157A:p.L2719L |
RS2276881 |
Serum concentration of
phenylacetate:Diastolic blood pressure (DBP):Tetrology of fallot |
|
4 |
3318413 |
2 |
RGS12 |
A |
G |
exonic |
synonymous SNV |
RGS12:NM_002926:exon2:c.A516G:p.S172S,RGS12:NM_198229:exon2:c.A516G:p.S172S |
RS2236052 |
LDL
cholesterol:Triglycerides:Fasting blood glucose:Gene expression of ADD1 in
peripheral blood monocytes:Gene expression of EVI5 in peripheral blood
monocytes:LDL cholesterol:Total cholesterol:Triglycerides:Height:Myocardial
infarction (MI):College completion:Gene expression of RGS12 in normal
prepouch ileum:Years of education:Advanced age-related macular degeneration
(geographic atrophy) |
|
4 |
3319553 |
1 |
RGS12 |
C |
T |
exonic |
synonymous SNV |
RGS12:NM_002926:exon2:c.C1656T:p.S552S,RGS12:NM_198229:exon2:c.C1656T:p.S552S |
RS2281470 |
Estimated total intracranial volume
(excluding patients with neuropsychiatric disorders):Adiponectin levels |
|
4 |
3444593 |
1 |
HGFAC |
G |
A |
exonic |
synonymous SNV |
HGFAC:NM_001297439:exon2:c.G252A:p.P84P,HGFAC:NM_001528:exon2:c.G252A:p.P84P |
|
4 |
3446091 |
1 |
HGFAC |
G |
T |
exonic |
nonsynonymous SNV |
HGFAC:NM_001297439:exon6:c.G652T:p.A218S,HGFAC:NM_001528:exon6:c.G652T:p.A218S |
|
4 |
3446132 |
1 |
HGFAC |
C |
G |
exonic |
nonsynonymous SNV |
HGFAC:NM_001297439:exon6:c.C693G:p.F231L,HGFAC:NM_001528:exon6:c.C693G:p.F231L |
|
4 |
3449886 |
1 |
HGFAC |
G |
A |
exonic |
synonymous SNV |
HGFAC:NM_001528:exon13:c.G1668A:p.E556E,HGFAC:NM_001297439:exon14:c.G1689A:p.E563E |
|
4 |
4190577 |
2 |
OTOP1 |
G |
C |
exonic |
nonsynonymous SNV |
OTOP1:NM_177998:exon6:c.C1792G:p.R598G |
|
4 |
4276132 |
2 |
LYAR |
T |
C |
exonic |
nonsynonymous SNV |
LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R |
|
4 |
6293696 |
2 |
WFS1 |
C |
G |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R |
|
4 |
6302519 |
2 |
WFS1 |
G |
A |
exonic |
nonsynonymous SNV |
WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I |
RS1801212 |
Type 2 diabetes:Abnormal
Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Gene
expression of ANKRD26 in peripheral blood monocytes:Microalbuminuria:Variant
Creutzfeldt-Jakob disease:Type 2 diabetes, end stage renal disease |
|
4 |
6302707 |
2 |
WFS1 |
C |
T |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V |
RS1801206 |
Fasting blood glucose:Total
cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe
cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood
monocytes:Mitral annular calcium |
|
4 |
6303022 |
2 |
WFS1 |
C |
T |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N |
RS1801214 |
Fasting blood glucose:Type 2
diabetes:Type 2 diabetes, age of onset:Fasting blood glucose:Type 2 diabetes
without obesity:Microalbuminuria:Type 2 diabetes (males):Type 2
diabetes:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Type 2 diabetes (females):Type 2 diabetes:Type 2 diabetes (males):Type
2 diabetes |
|
4 |
6303354 |
2 |
WFS1 |
G |
A |
exonic |
nonsynonymous SNV |
WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H |
RS734312 |
Type 2 diabetes:Type 2
diabetes:Fasting blood glucose:Type 2 diabetes:Total cholesterol:Methylation
levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal
pons:Gene expression of WFS1 [probe ILMN_18545] in untreated
osteoblasts:Microalbuminuria:Type 2 diabetes:Gene expression of WFS1 in
blood:Resistance to kuru in aged women despite likely exposure:Mitral annular
calcium |
|
4 |
6303955 |
2 |
WFS1 |
G |
A |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K |
RS1046314 |
Fasting blood glucose:Total
cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe
cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood
monocytes:Mitral annular calcium |
|
4 |
6304087 |
2 |
WFS1 |
A |
G |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S |
|
4 |
6594947 |
1 |
MAN2B2 |
A |
C |
exonic |
nonsynonymous SNV |
MAN2B2:NM_001292038:exon6:c.A728C:p.Q243P,MAN2B2:NM_015274:exon6:c.A728C:p.Q243P |
RS2301796 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Serum ratio of
(3-methoxytyrosine)/(hypoxanthine):Comorbid depressive syndrome and alcohol
dependence:Birth weight |
|
4 |
6596360 |
1 |
MAN2B2 |
G |
A |
exonic |
nonsynonymous SNV |
MAN2B2:NM_001292038:exon7:c.G805A:p.V269M,MAN2B2:NM_015274:exon7:c.G958A:p.V320M |
RS2301795 |
LDL cholesterol:Total
cholesterol:Serum concentration of catechol sulfate:Birth
weight:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Aortic valve calcium |
|
4 |
6606864 |
1 |
MAN2B2 |
A |
G |
exonic |
nonsynonymous SNV |
MAN2B2:NM_001292038:exon11:c.A1469G:p.N490S,MAN2B2:NM_015274:exon11:c.A1622G:p.N541S |
RS2301788 |
Systolic blood pressure (SBP):Aortic
valve calcium:Birth weight |
|
4 |
6619165 |
2 |
MAN2B2 |
A |
G |
exonic |
synonymous SNV |
MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L |
|
4 |
6698667 |
2 |
S100P |
T |
C |
exonic |
synonymous SNV |
S100P:NM_005980:exon2:c.T186C:p.D62D |
|
4 |
6698706 |
2 |
S100P |
A |
C |
exonic |
synonymous SNV |
S100P:NM_005980:exon2:c.A225C:p.I75I |
|
4 |
8228731 |
2 |
SH3TC1 |
T |
C |
exonic |
nonsynonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P |
|
4 |
8228894 |
2 |
SH3TC1 |
T |
C |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D |
|
4 |
8229218 |
2 |
SH3TC1 |
A |
G |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L |
|
4 |
8229326 |
2 |
SH3TC1 |
T |
C |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P |
|
4 |
8242466 |
2 |
SH3TC1 |
A |
G |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A |
|
4 |
9909923 |
1 |
SLC2A9 |
G |
A |
exonic |
nonsynonymous SNV |
SLC2A9:NM_020041:exon8:c.C1049T:p.P350L,SLC2A9:NM_001001290:exon9:c.C962T:p.P321L |
RS2280205 |
Uric acid:Uric acid:HDL
cholesterol:Uric acid:Methylation levels at chr9:35947934-35947984 [hg18
coord, probe cg26922202] in Frontal cortex:Methylation levels at
chr9:35947934-35947984 [hg18 coord, probe cg26922202] in Temporal
cortex:Methylation levels at chr9:35947934-35947984 [hg18 coord, probe
cg26922202] in Caudal pons:Serum urate:Serum ratio of
(phenylacetylglutamine)/(valerate):Variant Creutzfeldt-Jakob disease:Sporadic
Creutzfeldt-Jakob disease:Gene expression of SLC2A9 (probeID ILMN_1668312) in
temporal cortex in Alzheimer's disease cases and controls:Serum urate:Gene
expression of SLC2A9 in normal prepouch ileum:Gene expression of SLC2A9
(probeID ILMN_1668312) in cerebellum in Alzheimer's disease cases and
controls |
|
4 |
9922167 |
2 |
SLC2A9 |
C |
T |
exonic |
nonsynonymous SNV |
SLC2A9:NM_020041:exon7:c.G844A:p.V282I,SLC2A9:NM_001001290:exon8:c.G757A:p.V253I |
RS16890979 |
Uric acid in serum:Uric
acid:Alanine aminotransferase (ALT) (females):HDL cholesterol (female):Ratio
of cholesterol to HDL (woman):Gout:Uric acid:Gout (male):Gout (female):Uric
acid (females):Uric acid (males):Uric acid:Urate:Serum urate:Gout:Serum urate:Serum
concentration of urate:Uric acid:Comorbid depressive syndrome and alcohol
dependence:Serum urate:Uric acid in serum:Gout |
|
4 |
10099340 |
2 |
WDR1 |
T |
C |
exonic |
nonsynonymous SNV |
WDR1:NM_017491:exon5:c.A553G:p.I185V |
RS13441 |
Type 2 diabetes:Birth weight |
|
4 |
13604418 |
1 |
BOD1L1 |
G |
C |
exonic |
nonsynonymous SNV |
BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G |
RS17745712 |
HDL cholesterol change with
statins:Triglycerides |
|
4 |
13606576 |
2 |
BOD1L1 |
A |
T |
exonic |
nonsynonymous SNV |
BOD1L1:NM_148894:exon10:c.T1948A:p.L650I |
RS1971278 |
Height:PROP taste detection
threshold:Years of education:Parkinson's disease:College completion |
|
4 |
15690233 |
2 |
FAM200B |
C |
A |
exonic |
nonsynonymous SNV |
FAM200B:NM_001145191:exon2:c.C1633A:p.H545N |
RS6449160 |
Serum creatinine |
|
4 |
17586703 |
2 |
LAP3 |
T |
C |
exonic |
synonymous SNV |
LAP3:NM_015907:exon6:c.T648C:p.A216A |
RS3733576 |
Gene expression of probe 235105_at
in lymphoblastoid cell lines:Gene expression of MED28 [probe 222636_at] in
lymphoblastoid cell lines:Gene expression of FAM184B [probe 233823_at] in
lymphoblastoid cell lines:Gene expression of MED28 [probe 228992_at] in
lymphoblastoid cell lines:Gene expression of LAP3 [probe 217933_s_at] in
lymphoblastoid cell lines:Gene expression of probe 227504_s_at in
lymphoblastoid cell lines:Gene expression of MED28 [probe 222635_s_at] in
lymphoblastoid cell lines:Gene expression of probe 227505_at in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235105_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[233823_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235288_at] in
lymphoblastoid cell lines:Gene expression of LAP3 probe[217933_s_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227504_s_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[228992_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227505_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[222635_s_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[222636_at] in
lymphoblastoid cell lines:Gene expression of LAP3 in lymphoblastoid cell
lines:Gene expression of KIAA1276 in lymphoblastoid cell lines:Serum
creatinine:Height |
|
4 |
17829990 |
1 |
NCAPG |
G |
C |
exonic |
nonsynonymous SNV |
NCAPG:NM_022346:exon12:c.G1743C:p.M581I |
|
4 |
23815924 |
2 |
PPARGC1A |
T |
C |
exonic |
synonymous SNV |
PPARGC1A:NM_001330753:exon7:c.A801G:p.T267T,PPARGC1A:NM_013261:exon8:c.A1182G:p.T394T,PPARGC1A:NM_001330752:exon9:c.A1146G:p.T382T,PPARGC1A:NM_001330751:exon10:c.A1197G:p.T399T |
RS2970847 |
HDL cholesterol:Waist hip ratio |
|
4 |
25236017 |
1 |
PI4K2B |
T |
C |
exonic |
nonsynonymous SNV |
PI4K2B:NM_018323:exon1:c.T232C:p.S78P |
|
4 |
25253995 |
1 |
PI4K2B |
C |
T |
exonic |
synonymous SNV |
PI4K2B:NM_018323:exon2:c.C321T:p.A107A |
RS313567 |
Triglycerides |
|
4 |
25363901 |
2 |
ZCCHC4 |
T |
A |
exonic |
nonsynonymous SNV |
ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H |
RS315675 |
HDL cholesterol:Cystatin C in
serum:Methylation levels at chr4:24987356-24987406 [hg18 coord, probe
cg13918811] in Frontal cortex:Refractive error:Advanced age-related macular
degeneration (geographic atrophy) |
|
4 |
25419283 |
1 |
ANAPC4 |
T |
C |
exonic |
synonymous SNV |
ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F |
RS9174 |
Cystatin C in serum:Body mass index
(BMI):PROP taste detection threshold:College completion:Aortic valve
calcium:Advanced age-related macular degeneration:Gene expression of ANAPC4
in normal prepouch ileum |
|
4 |
26417136 |
1 |
RBPJ |
T |
C |
exonic |
synonymous SNV |
RBPJ:NM_015874:exon4:c.T195C:p.S65S,RBPJ:NM_203283:exon4:c.T189C:p.S63S,RBPJ:NM_005349:exon5:c.T234C:p.S78S,RBPJ:NM_203284:exon5:c.T192C:p.S64S |
|
4 |
26432576 |
1 |
RBPJ |
G |
A |
exonic |
nonsynonymous SNV |
RBPJ:NM_015874:exon11:c.G1411A:p.A471T,RBPJ:NM_203283:exon11:c.G1405A:p.A469T,RBPJ:NM_005349:exon12:c.G1450A:p.A484T,RBPJ:NM_203284:exon12:c.G1408A:p.A470T |
|
4 |
37836302 |
2 |
PGM2 |
T |
C |
exonic |
synonymous SNV |
PGM2:NM_018290:exon3:c.T312C:p.S104S |
|
4 |
37851856 |
2 |
PGM2 |
A |
C |
exonic |
nonsynonymous SNV |
PGM2:NM_018290:exon12:c.A1464C:p.E488D |
RS10001580 |
Schizophrenia:Fasting
insulin:HOMA-IR:HDL cholesterol:Partial epilepsy:Resistance to kuru in aged
women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Refractive
error:Infant head circumference |
|
4 |
38016395 |
2 |
TBC1D1 |
T |
G |
exonic |
nonsynonymous SNV |
TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G |
|
4 |
38023302 |
1 |
TBC1D1 |
C |
G |
exonic |
synonymous SNV |
TBC1D1:NM_001253912:exon6:c.C1173G:p.P391P,TBC1D1:NM_015173:exon6:c.C1173G:p.P391P |
|
4 |
38055862 |
1 |
TBC1D1 |
G |
C |
exonic |
synonymous SNV |
TBC1D1:NM_015173:exon12:c.G1953C:p.G651G,TBC1D1:NM_001253912:exon14:c.G2235C:p.G745G |
|
4 |
38879949 |
1 |
FAM114A1 |
G |
A |
exonic |
nonsynonymous SNV |
FAM114A1:NM_001350632:exon2:c.G250A:p.G84R,FAM114A1:NM_001350635:exon2:c.G250A:p.G84R,FAM114A1:NM_138389:exon3:c.G250A:p.G84R |
RS11096964 |
Fasting insulin:Total
cholesterol:Refractive error |
|
4 |
38937372 |
2 |
FAM114A1 |
T |
C |
exonic |
synonymous SNV |
FAM114A1:NM_001350631:exon11:c.T876C:p.S292S,FAM114A1:NM_001350633:exon11:c.T1116C:p.S372S,FAM114A1:NM_001350634:exon11:c.T903C:p.S301S,FAM114A1:NM_001330764:exon12:c.T876C:p.S292S,FAM114A1:NM_001350632:exon12:c.T1491C:p.S497S,FAM114A1:NM_138389:exon13:c.T1497C:p.S499S |
RS2271031 |
Stabilized warfarin
dose:Differential exon level expression of FAM114A1 [probe 2724140] in brain
cortex:Triglycerides change with statins:Lp-PLA2 mass:Gene expression of
[probe 3440433 centered at chr4:38463676] in blood:Gene expression of KLHL5
in blood:Gene expression of TLR10 in blood:Serum concentration of
aspartate:Resistance to kuru in aged women despite likely
exposure:Hypertension (early onset hypertension) |
|
4 |
38945169 |
1 |
FAM114A1 |
A |
G |
exonic |
synonymous SNV |
FAM114A1:NM_001350633:exon13:c.A1302G:p.A434A,FAM114A1:NM_001350634:exon13:c.A1089G:p.A363A,FAM114A1:NM_001330764:exon14:c.A1062G:p.A354A,FAM114A1:NM_001350632:exon14:c.A1677G:p.A559A,FAM114A1:NM_138389:exon15:c.A1683G:p.A561A |
RS1060582 |
Total cholesterol change with
statins:Rheumatoid arthritis:Height |
|
4 |
39082777 |
1 |
KLHL5 |
C |
G |
exonic |
synonymous SNV |
KLHL5:NM_199039:exon2:c.C576G:p.V192V,KLHL5:NM_001171654:exon3:c.C198G:p.V66V,KLHL5:NM_015990:exon3:c.C759G:p.V253V,KLHL5:NM_001007075:exon4:c.C621G:p.V207V |
|
4 |
39116911 |
1 |
KLHL5 |
T |
C |
exonic |
synonymous SNV |
KLHL5:NM_199039:exon9:c.T1989C:p.T663T,KLHL5:NM_001171654:exon10:c.T1611C:p.T537T,KLHL5:NM_015990:exon10:c.T2172C:p.T724T,KLHL5:NM_001007075:exon11:c.T2034C:p.T678T |
RS3733276 |
Height |
|
4 |
39207318 |
1 |
WDR19 |
A |
G |
exonic |
synonymous SNV |
WDR19:NM_001317924:exon8:c.A372G:p.S124S,WDR19:NM_025132:exon9:c.A852G:p.S284S |
RS17584431 |
Gene expression of LEAP-2 in
peripheral blood monocytes:HDL cholesterol:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression change
of WDR19 (ENSG00000157796) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
4 |
39306471 |
1 |
RFC1 |
C |
G |
exonic |
nonsynonymous SNV |
RFC1:NM_001204747:exon15:c.G2076C:p.E692D,RFC1:NM_002913:exon15:c.G2073C:p.E691D |
|
4 |
39448542 |
2 |
KLB |
C |
G |
exonic |
synonymous SNV |
KLB:NM_175737:exon4:c.C2196G:p.P732P |
RS7685429 |
HOMA-B:Fasting insulin:HOMA-IR:LDL
cholesterol change with statins:Total cholesterol change with statins:Total
cholesterol:Aortic valve calcium |
|
4 |
39510264 |
1 |
UGDH |
A |
G |
exonic |
synonymous SNV |
UGDH:NM_001184700:exon6:c.T627C:p.C209C,UGDH:NM_001184701:exon6:c.T537C:p.C179C,UGDH:NM_003359:exon7:c.T828C:p.C276C |
|
4 |
39515736 |
1 |
UGDH |
A |
G |
exonic |
synonymous SNV |
UGDH:NM_001184700:exon3:c.T231C:p.D77D,UGDH:NM_003359:exon3:c.T231C:p.D77D |
RS10019532 |
Diastolic blood pressure (DBP):Gene
expression change of LIAS (ENSG00000121897) in dendritic cells after
treatment with Mycobacterium tuberculosis |
|
4 |
40121635 |
1 |
N4BP2 |
A |
T |
exonic |
nonsynonymous SNV |
N4BP2:NM_018177:exon9:c.A1904T:p.E635V,N4BP2:NM_001318359:exon10:c.A1664T:p.E555V |
|
4 |
40428010 |
2 |
RBM47 |
T |
C |
exonic |
nonsynonymous SNV |
RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V |
RS278981 |
LDL cholesterol:Simpson-Angus
Scale:Urinary albumin-to-creatinine ratio:Microalbuminuria:Serum ratio of
(10-nonadecenoate (19:1n9))/(phenyllactate (PLA)):Sporadic Creutzfeldt-Jakob
disease |
|
4 |
40440854 |
2 |
RBM47 |
G |
C |
exonic |
synonymous SNV |
RBM47:NM_019027:exon3:c.C57G:p.S19S,RBM47:NM_001098634:exon4:c.C57G:p.S19S |
|
4 |
41015823 |
2 |
APBB2 |
G |
A |
exonic |
synonymous SNV |
APBB2:NM_001330658:exon5:c.C612T:p.G204G,APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_001330656:exon6:c.C612T:p.G204G,APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G |
|
4 |
41015899 |
2 |
APBB2 |
C |
T |
exonic |
nonsynonymous SNV |
APBB2:NM_001330658:exon5:c.G536A:p.R179Q,APBB2:NM_001166050:exon6:c.G536A:p.R179Q,APBB2:NM_001330656:exon6:c.G536A:p.R179Q,APBB2:NM_004307:exon6:c.G536A:p.R179Q,APBB2:NM_173075:exon6:c.G536A:p.R179Q |
RS4861358 |
Stabilized warfarin dose:Late onset
Alzheimer's disease:Serum ratio of (5-dodecenoate (12:1n7))/(myristoleate
(14:1n5)):Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration (geographic atrophy):Tetrology of fallot |
|
4 |
41992677 |
2 |
SLC30A9 |
C |
G |
exonic |
synonymous SNV |
SLC30A9:NM_006345:exon1:c.C9G:p.P3P |
|
4 |
42003671 |
2 |
SLC30A9 |
A |
G |
exonic |
nonsynonymous SNV |
SLC30A9:NM_006345:exon2:c.A148G:p.M50V |
RS1047626 |
Gene expression of SLC30A9 [probe
229500_at] in lymphoblastoid cell lines:Gene expression of probe 236097_at in
lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in
lymphoblastoid cell lines:Neuroticism:Differential exon level expression of
SLC30A9 [probe 2725395] in brain cortex:Major depressive disorder:Lp-PLA2
activity:Diastolic blood pressure (DBP):Gene expression of SLC30A9 [probeset
229500_at] in sputum |
|
4 |
42022464 |
2 |
SLC30A9 |
C |
A |
exonic |
synonymous SNV |
SLC30A9:NM_006345:exon4:c.C366A:p.G122G |
RS15857 |
Gene expression of probe 236097_at
in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 229500_at] in
lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in
lymphoblastoid cell lines:Serum ratio of (cysteine-glutathione disulfide)/(indolepropionate):Diastolic
blood pressure (DBP) |
|
4 |
47887991 |
2 |
NFXL1 |
G |
A |
exonic |
synonymous SNV |
NFXL1:NM_001278623:exon13:c.C1569T:p.T523T,NFXL1:NM_001278624:exon13:c.C1569T:p.T523T,NFXL1:NM_152995:exon13:c.C1569T:p.T523T |
RS6818556 |
Rheumatoid arthritis:Methylation
levels at chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Temporal
cortex:Methylation levels at chr4:47650718-47650768 [hg18 coord, probe
cg19000186] in Caudal pons:Methylation levels at chr4:47650718-47650768 [hg18
coord, probe cg19000186] in Frontal cortex:Methylation levels at
chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Cerebellum:Total
cholesterol:Gene expression of NIPAL1 in normal prepouch ileum:Adiponectin
levels |
|
4 |
47901476 |
1 |
NFXL1 |
G |
A |
exonic |
nonsynonymous SNV |
NFXL1:NM_001278623:exon6:c.C737T:p.P246L,NFXL1:NM_001278624:exon6:c.C737T:p.P246L,NFXL1:NM_152995:exon6:c.C737T:p.P246L |
RS12651301 |
HOMA-B |
|
4 |
56262374 |
1 |
TMEM165 |
A |
G |
exonic |
synonymous SNV |
TMEM165:NM_018475:exon1:c.A18G:p.P6P |
|
4 |
57204777 |
1 |
AASDH |
A |
C |
exonic |
nonsynonymous SNV |
AASDH:NM_001286670:exon12:c.T1633G:p.Y545D,AASDH:NM_001286668:exon14:c.T2788G:p.Y930D,AASDH:NM_001286669:exon14:c.T2629G:p.Y877D,AASDH:NM_001323899:exon14:c.T1957G:p.Y653D,AASDH:NM_181806:exon15:c.T3088G:p.Y1030D,AASDH:NM_001323890:exon16:c.T3205G:p.Y1069D |
RS8340 |
Irritible bowel syndrome:Fasting
blood glucose:HDL cholesterol:Height:Variant Creutzfeldt-Jakob
disease:Diabetic retinopathy in Type 2 diabetes mellitus:Paternal
transmission distortion:Hypertension (early onset hypertension):Transmission
distortion |
|
4 |
57211352 |
1 |
AASDH |
T |
C |
exonic |
nonsynonymous SNV |
AASDH:NM_001286670:exon9:c.A1138G:p.T380A,AASDH:NM_001286668:exon11:c.A2293G:p.T765A,AASDH:NM_001286669:exon11:c.A2134G:p.T712A,AASDH:NM_001323899:exon11:c.A1462G:p.T488A,AASDH:NM_181806:exon12:c.A2593G:p.T865A,AASDH:NM_001323890:exon13:c.A2710G:p.T904A |
RS12498340 |
Abnormal Involuntary Movement
Scale:Tardive dyskinesia:Fasting blood glucose:Rheumatoid
arthritis:Height:Gene expression of PPAT [probeset 209433_s_at] in
sputum:Variant Creutzfeldt-Jakob disease:Paternal transmission
distortion:Diabetic retinopathy in Type 2 diabetes mellitus:Transmission
distortion |
|
4 |
57215677 |
1 |
AASDH |
G |
A |
exonic |
nonsynonymous SNV |
AASDH:NM_001286670:exon8:c.C785T:p.A262V,AASDH:NM_001286668:exon10:c.C1940T:p.A647V,AASDH:NM_001286669:exon10:c.C1781T:p.A594V,AASDH:NM_001323893:exon10:c.C1781T:p.A594V,AASDH:NM_001323899:exon10:c.C1109T:p.A370V,AASDH:NM_001286671:exon11:c.C2240T:p.A747V,AASDH:NM_001286672:exon11:c.C2240T:p.A747V,AASDH:NM_001323890:exon11:c.C2240T:p.A747V,AASDH:NM_001323892:exon11:c.C2240T:p.A747V,AASDH:NM_181806:exon11:c.C2240T:p.A747V |
RS3796544 |
Gene expression of PPAT [probe
209433_s_at] in lymphoblastoid cell lines:Differential exon level expression
of PPAT [probe 2770259] in brain cortex:Differential exon level expression of
PPAT [probe 2770259] in peripheral blood mononuclear cells:Gene expression of
AASDH in CD4+ lymphocytes:Gene expression of AC098587.3 in blood:Serum ratio
of (1-linoleoylglycerol (1-monolinolein))/(gamma-glutamylisoleucine*):Gene
expression of PPAT [probeset 209433_s_at] in sputum:Gene expression of AASDH
[probeset 235435_at] in sputum:Gene expression of AASDH [probeset 228041_at]
in sputum:Comorbid depressive syndrome and alcohol dependence:Hypertension
(early onset hypertension):Advanced age-related macular degeneration |
|
4 |
57219592 |
2 |
AASDH |
G |
A |
exonic |
synonymous SNV |
AASDH:NM_001286670:exon6:c.C99T:p.D33D,AASDH:NM_001286668:exon8:c.C1254T:p.D418D,AASDH:NM_001286669:exon8:c.C1095T:p.D365D,AASDH:NM_001323893:exon8:c.C1095T:p.D365D,AASDH:NM_001323899:exon8:c.C423T:p.D141D,AASDH:NM_001286671:exon9:c.C1554T:p.D518D,AASDH:NM_001286672:exon9:c.C1554T:p.D518D,AASDH:NM_001323890:exon9:c.C1554T:p.D518D,AASDH:NM_001323892:exon9:c.C1554T:p.D518D,AASDH:NM_181806:exon9:c.C1554T:p.D518D |
RS6554348 |
Fasting insulin:HOMA-B:Gene
expression of AASDH in peripheral blood monocytes:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Diabetic retinopathy in Type 2 diabetes
mellitus:Gene expression change of PPAT (ENSG00000128059) in dendritic cells
after treatment with Mycobacterium tuberculosis:College completion:Gene
expression of PPAT (ENSG00000128059) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of AASDH (ENSG00000157426) in
dendritic cells |
|
4 |
57219613 |
1 |
AASDH |
C |
T |
exonic |
synonymous SNV |
AASDH:NM_001286670:exon6:c.G78A:p.P26P,AASDH:NM_001286668:exon8:c.G1233A:p.P411P,AASDH:NM_001286669:exon8:c.G1074A:p.P358P,AASDH:NM_001323893:exon8:c.G1074A:p.P358P,AASDH:NM_001323899:exon8:c.G402A:p.P134P,AASDH:NM_001286671:exon9:c.G1533A:p.P511P,AASDH:NM_001286672:exon9:c.G1533A:p.P511P,AASDH:NM_001323890:exon9:c.G1533A:p.P511P,AASDH:NM_001323892:exon9:c.G1533A:p.P511P,AASDH:NM_181806:exon9:c.G1533A:p.P511P |
RS17086696 |
Fasting blood glucose:HOMA-B:HDL
cholesterol:Height:Diabetic retinopathy in Type 2 diabetes mellitus |
|
4 |
57237683 |
1 |
AASDH |
G |
A |
exonic |
synonymous SNV |
AASDH:NM_001286668:exon4:c.C495T:p.S165S,AASDH:NM_001286669:exon4:c.C336T:p.S112S,AASDH:NM_001323893:exon4:c.C336T:p.S112S,AASDH:NM_001286671:exon5:c.C795T:p.S265S,AASDH:NM_001286672:exon5:c.C795T:p.S265S,AASDH:NM_001323890:exon5:c.C795T:p.S265S,AASDH:NM_001323892:exon5:c.C795T:p.S265S,AASDH:NM_181806:exon5:c.C795T:p.S265S |
RS6554354 |
Gene expression of PPAT [probe
209433_s_at] in lymphoblastoid cell lines:Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration |
|
4 |
57273840 |
1 |
PPAT |
C |
G |
exonic |
synonymous SNV |
PPAT:NM_002703:exon2:c.G171C:p.S57S |
|
4 |
57333822 |
2 |
SRP72 |
G |
T |
exonic |
synonymous SNV |
SRP72:NM_001267722:exon1:c.G21T:p.G7G,SRP72:NM_006947:exon1:c.G21T:p.G7G |
|
4 |
57843320 |
2 |
NOA1 |
A |
G |
exonic |
synonymous SNV |
NOA1:NM_032313:exon1:c.T432C:p.C144C |
|
4 |
57876955 |
1 |
POLR2B |
G |
A |
exonic |
synonymous SNV |
POLR2B:NM_001303268:exon11:c.G1365A:p.A455A,POLR2B:NM_000938:exon12:c.G1590A:p.A530A,POLR2B:NM_001303269:exon13:c.G1569A:p.A523A |
RS1718878 |
Total cholesterol:Exudative
age-related macular degeneration:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Gene expression of POLR2B in normal prepouch
ileum |
|
4 |
57881715 |
1 |
POLR2B |
G |
A |
exonic |
synonymous SNV |
POLR2B:NM_001303268:exon13:c.G1623A:p.T541T,POLR2B:NM_000938:exon14:c.G1848A:p.T616T,POLR2B:NM_001303269:exon15:c.G1827A:p.T609T |
RS1713982 |
Differential exon level expression
of POLR2B [probe 2728468] in brain cortex:Differential exon level expression
of POLR2B [probe 2728478] in brain cortex:Total cholesterol:Advanced
age-related macular degeneration:Gene expression of POLR2B in normal prepouch
ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
4 |
57889677 |
1 |
POLR2B |
C |
T |
exonic |
synonymous SNV |
POLR2B:NM_001303268:exon18:c.C2472T:p.S824S,POLR2B:NM_000938:exon19:c.C2697T:p.S899S,POLR2B:NM_001303269:exon20:c.C2676T:p.S892S |
RS1056364 |
Gene expression of POLR2B in
lymphoblastoid cell lines:HDL cholesterol:Cystatin C in serum:Exudative
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Years of education:Advanced
age-related macular degeneration:College completion |
|
4 |
68374597 |
2 |
CENPC |
C |
T |
exonic |
synonymous SNV |
CENPC:NM_001812:exon10:c.G1839A:p.S613S |
|
4 |
68384008 |
2 |
CENPC |
C |
T |
exonic |
synonymous SNV |
CENPC:NM_001812:exon7:c.G696A:p.S232S |
RS355510 |
Total cholesterol:Chronic kidney
disease |
|
4 |
68500171 |
1 |
UBA6 |
A |
G |
exonic |
synonymous SNV |
UBA6:NM_018227:exon21:c.T1908C:p.H636H |
|
4 |
69203551 |
2 |
YTHDC1 |
A |
T |
exonic |
synonymous SNV |
YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_001330698:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S |
|
4 |
69964271 |
2 |
UGT2B7 |
A |
G |
exonic |
synonymous SNV |
UGT2B7:NM_001074:exon2:c.A735G:p.T245T,UGT2B7:NM_001330719:exon2:c.A735G:p.T245T |
|
4 |
69964337 |
2 |
UGT2B7 |
A |
T |
exonic |
synonymous SNV |
UGT2B7:NM_001074:exon2:c.A801T:p.P267P,UGT2B7:NM_001330719:exon2:c.A801T:p.P267P,UGT2B7:NM_001349568:exon3:c.A54T:p.P18P |
|
4 |
69964338 |
2 |
UGT2B7 |
T |
C |
exonic |
nonsynonymous SNV |
UGT2B7:NM_001074:exon2:c.T802C:p.Y268H,UGT2B7:NM_001330719:exon2:c.T802C:p.Y268H,UGT2B7:NM_001349568:exon3:c.T55C:p.Y19H |
RS7439366 |
Gene expression of Hs.479894 in CHB
lymphoblastoid cell lines:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
4 |
70155416 |
2 |
UGT2B28 |
G |
A |
exonic |
nonsynonymous SNV |
UGT2B28:NM_053039:exon4:c.G1036A:p.A346T |
|
4 |
71705262 |
2 |
GRSF1 |
A |
G |
exonic |
nonsynonymous SNV |
GRSF1:NM_002092:exon1:c.T283C:p.S95P |
|
4 |
72618296 |
2 |
GC |
T |
C |
exonic |
nonsynonymous SNV |
GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R |
|
4 |
73942678 |
1 |
ANKRD17 |
C |
T |
exonic |
synonymous SNV |
ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANKRD17:NM_001286771:exon33:c.G7392A:p.T2464T,ANKRD17:NM_015574:exon33:c.G7728A:p.T2576T,ANKRD17:NM_032217:exon33:c.G7731A:p.T2577T |
RS2306058 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale:Tardive dyskinesia:Triglycerides:Body
mass index (BMI):Bipolar disorder:Tetrology of fallot:Oral cancer in patients
with long term tobacco chewing habit |
|
4 |
73991006 |
2 |
ANKRD17 |
T |
C |
exonic |
synonymous SNV |
ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A |
|
4 |
74285239 |
1 |
ALB |
C |
T |
exonic |
synonymous SNV |
ALB:NM_000477:exon13:c.C1668T:p.L556L |
|
4 |
76878688 |
1 |
SDAD1 |
G |
A |
exonic |
synonymous SNV |
SDAD1:NM_001288983:exon18:c.C1641T:p.D547D,SDAD1:NM_001288984:exon19:c.C1461T:p.D487D,SDAD1:NM_018115:exon19:c.C1752T:p.D584D |
RS2242470 |
Gene expression of ASAHL in CEU
lymphoblastoid cell lines:Serum creatinine:Autism:Gene expression of NAAA
(probeID ILMN_2391512) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex in
Alzheimer's disease cases and controls |
|
4 |
76878716 |
1 |
SDAD1 |
G |
C |
exonic |
nonsynonymous SNV |
SDAD1:NM_001288983:exon18:c.C1613G:p.S538C,SDAD1:NM_001288984:exon19:c.C1433G:p.S478C,SDAD1:NM_018115:exon19:c.C1724G:p.S575C |
RS2242471 |
Gene expression of ASAHL in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol change with
statins:Total cholesterol change with statins:Lp-PLA2 mass:NAAA gene
expression:Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of NAAA (probeID
ILMN_1668605) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of NAAA (probeID ILMN_2391512) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of NAAA (probeID ILMN_1668605) in
temporal cortex in Alzheimer's disease cases and controls |
|
4 |
79240063 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_001166133:exon18:c.A2060G:p.D687G,FRAS1:NM_025074:exon18:c.A2060G:p.D687G |
RS345513 |
Longstanding arthritis:Serum
creatinine:Cystatin C in serum:Autism with low IQ:Microalbuminuria |
|
4 |
79284694 |
2 |
FRAS1 |
C |
T |
exonic |
nonsynonymous SNV |
FRAS1:NM_001166133:exon21:c.C2450T:p.A817V,FRAS1:NM_025074:exon21:c.C2450T:p.A817V |
RS6835769 |
Schizophrenia:Response to Lithium
Treatment for Bipolar disorder:Premature ovarian failure:Hair morphology:LDL
cholesterol:Systolic blood pressure (SBP):Age at death with kuru exposure |
|
4 |
79300993 |
1 |
FRAS1 |
G |
A |
exonic |
nonsynonymous SNV |
FRAS1:NM_001166133:exon27:c.G3406A:p.E1136K,FRAS1:NM_025074:exon27:c.G3406A:p.E1136K |
RS12512164 |
Hip bone mineral density (BMD):LDL
cholesterol:Total cholesterol:Serum ratio of
(glycochenodeoxycholate)/(indolelactate):PROP taste detection threshold:Age
at death with kuru exposure |
|
4 |
79343111 |
1 |
FRAS1 |
G |
A |
exonic |
synonymous SNV |
FRAS1:NM_001166133:exon34:c.G4635A:p.P1545P,FRAS1:NM_025074:exon34:c.G4635A:p.P1545P |
|
4 |
79387464 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon50:c.A7132G:p.K2378E |
RS7684722 |
Tardive dyskinesia |
|
4 |
79421011 |
1 |
FRAS1 |
G |
T |
exonic |
synonymous SNV |
FRAS1:NM_025074:exon61:c.G9252T:p.R3084R |
|
4 |
79443837 |
1 |
FRAS1 |
A |
T |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon69:c.A10683T:p.E3561D |
|
4 |
79443850 |
1 |
FRAS1 |
G |
A |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon69:c.G10696A:p.V3566I |
RS931606 |
2 hour glucose:Gene expression of
[probe 1230148 centered at chr4:79821519] in blood:Serum concentration of
gamma-glutamylisoleucine*:Age at death with kuru exposure:College completion |
|
4 |
83347266 |
1 |
HNRNPDL |
A |
G |
exonic |
synonymous SNV |
HNRNPDL:NM_001207000:exon6:c.T1038C:p.Y346Y,HNRNPDL:NM_031372:exon7:c.T1209C:p.Y403Y |
|
4 |
83348652 |
1 |
HNRNPDL |
T |
C |
exonic |
synonymous SNV |
HNRNPDL:NM_001207000:exon4:c.A840G:p.T280T,HNRNPDL:NM_031372:exon4:c.A840G:p.T280T |
|
4 |
83350763 |
1 |
HNRNPDL |
G |
A |
exonic |
synonymous SNV |
HNRNPDL:NM_001207000:exon1:c.C81T:p.L27L,HNRNPDL:NM_031372:exon1:c.C81T:p.L27L |
|
4 |
83748733 |
1 |
SEC31A |
G |
A |
exonic |
nonsynonymous SNV |
SEC31A:NM_001300744:exon21:c.C2621T:p.P874L,SEC31A:NM_001300745:exon22:c.C2918T:p.P973L,SEC31A:NM_016211:exon22:c.C2963T:p.P988L,SEC31A:NM_001077206:exon23:c.C2738T:p.P913L,SEC31A:NM_001191049:exon23:c.C3020T:p.P1007L,SEC31A:NM_001077207:exon24:c.C3080T:p.P1027L,SEC31A:NM_001077208:exon24:c.C3035T:p.P1012L,SEC31A:NM_001318119:exon24:c.C3035T:p.P1012L,SEC31A:NM_001318120:exon26:c.C3080T:p.P1027L |
|
4 |
83765605 |
1 |
SEC31A |
C |
A |
exonic |
nonsynonymous SNV |
SEC31A:NM_001300744:exon19:c.G2443T:p.A815S,SEC31A:NM_001300745:exon19:c.G2443T:p.A815S,SEC31A:NM_016211:exon19:c.G2443T:p.A815S,SEC31A:NM_001191049:exon20:c.G2545T:p.A849S,SEC31A:NM_001077206:exon21:c.G2560T:p.A854S,SEC31A:NM_001077207:exon21:c.G2560T:p.A854S,SEC31A:NM_001077208:exon21:c.G2560T:p.A854S,SEC31A:NM_001318119:exon21:c.G2560T:p.A854S,SEC31A:NM_001318120:exon23:c.G2560T:p.A854S |
|
4 |
83788344 |
2 |
SEC31A |
A |
T |
exonic |
synonymous SNV |
SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G |
|
4 |
83795806 |
2 |
SEC31A |
T |
C |
exonic |
synonymous SNV |
SEC31A:NM_001191049:exon5:c.A582G:p.R194R,SEC31A:NM_001077206:exon6:c.A597G:p.R199R,SEC31A:NM_001077207:exon6:c.A597G:p.R199R,SEC31A:NM_001077208:exon6:c.A597G:p.R199R,SEC31A:NM_001300744:exon6:c.A597G:p.R199R,SEC31A:NM_001300745:exon6:c.A597G:p.R199R,SEC31A:NM_001318119:exon6:c.A597G:p.R199R,SEC31A:NM_016211:exon6:c.A597G:p.R199R,SEC31A:NM_001318120:exon8:c.A597G:p.R199R |
RS10025654 |
2 hour glucose:Adiponectin levels |
|
4 |
83838217 |
2 |
THAP9 |
G |
A |
exonic |
nonsynonymous SNV |
THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I |
|
4 |
83838262 |
2 |
THAP9 |
G |
T |
exonic |
nonsynonymous SNV |
THAP9:NM_024672:exon5:c.G897T:p.L299F,THAP9:NM_001317776:exon6:c.G465T:p.L155F |
RS897945 |
Gene expression of SCD5 [probe
224901_at] in lymphoblastoid cell lines:Gene expression of SEC31A [probe
215009_s_at] in lymphoblastoid cell lines:Eye color:Atopy:Allergic
rhinitis:Gene expression of SCD5 in blood:Maternal transmission
distortion:Transmission distortion |
|
4 |
83839799 |
2 |
THAP9 |
A |
G |
exonic |
nonsynonymous SNV |
THAP9:NM_024672:exon5:c.A2434G:p.N812D,THAP9:NM_001317776:exon6:c.A2002G:p.N668D |
|
4 |
84188850 |
1 |
COQ2 |
G |
A |
exonic |
synonymous SNV |
COQ2:NM_015697:exon6:c.C990T:p.S330S |
|
4 |
84191031 |
1 |
COQ2 |
A |
G |
exonic |
synonymous SNV |
COQ2:NM_015697:exon5:c.T894C:p.D298D |
RS6535454 |
Adiponectin levels:Advanced
age-related macular degeneration (geographic atrophy):Aortic valve calcium |
|
4 |
84374480 |
1 |
HELQ |
C |
T |
exonic |
nonsynonymous SNV |
HELQ:NM_001297755:exon2:c.G916A:p.V306I,HELQ:NM_001297758:exon2:c.G805A:p.V269I,HELQ:NM_001297759:exon2:c.G916A:p.V306I,HELQ:NM_133636:exon2:c.G916A:p.V306I |
RS1494961 |
Waist circumference in Type 2
diabetes:Neuroticism:Lung cancer:LDL cholesterol:Schizophrenia:Premature
ovarian failure:Barnes Akathisia Rating Scale:Gene expression of ENOPH1
[probe 217956_s_at] in prefrontal cortex:LDL cholesterol:Urinary
albumin-to-creatinine ratio:Upper aero-digestive tract cancer:Lung
cancer:Gene expression of FAM175A [probeset 226521_s_at] in sputum:Gene
expression of MRPS18C (probeID ILMN_2085903) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of MRPS18C (probeID ILMN_2085903)
in temporal cortex in Alzheimer's disease cases:Gene expression of MRPS18C
(probeID ILMN_2085903) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of MRPS18C (probeID
ILMN_2085903) in cerebellum in Alzheimer's disease cases:Gene expression of
MRPS18C (probeID ILMN_2085903) in cerebellum in Progressive Supranuclear
Palsy cases:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal
cortex in non-Alzheimer's disease samples:Gene expression of MRPS18C (probeID
ILMN_2085903) in cerebellum in non-Alzheimer's disease samples |
|
4 |
84376743 |
2 |
HELQ |
A |
T |
exonic |
nonsynonymous SNV |
HELQ:NM_001297755:exon1:c.T104A:p.V35E,HELQ:NM_001297758:exon1:c.T104A:p.V35E,HELQ:NM_001297759:exon1:c.T104A:p.V35E,HELQ:NM_133636:exon1:c.T104A:p.V35E |
|
4 |
84383735 |
1 |
ABRAXAS1 |
C |
T |
exonic |
nonsynonymous SNV |
ABRAXAS1:NM_001345962:exon8:c.G790A:p.D264N,ABRAXAS1:NM_139076:exon9:c.G1117A:p.D373N |
RS13125836 |
Barnes Akathisia Rating Scale:Waist
hip ratio:Birth weight |
|
4 |
84383810 |
1 |
ABRAXAS1 |
C |
T |
exonic |
nonsynonymous SNV |
ABRAXAS1:NM_001345962:exon8:c.G715A:p.A239T,ABRAXAS1:NM_139076:exon9:c.G1042A:p.A348T |
RS12642536 |
Serum concentration of n-Butyl
Oleate:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MRPS18C (probeID
ILMN_2085903) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of MRPS18C in normal prepouch ileum |
|
4 |
84406205 |
1 |
ABRAXAS1 |
C |
T |
exonic |
synonymous SNV |
ABRAXAS1:NM_139076:exon1:c.G21A:p.S7S |
|
4 |
88258483 |
2 |
HSD17B11 |
T |
C |
exonic |
nonsynonymous SNV |
HSD17B11:NM_016245:exon7:c.A848G:p.Q283R |
RS9991501 |
Fasting blood glucose:Total
cholesterol:Microalbuminuria |
|
4 |
88293887 |
2 |
HSD17B11 |
G |
A |
exonic |
synonymous SNV |
HSD17B11:NM_016245:exon4:c.C531T:p.V177V |
RS6531985 |
Spine bone mineral density
(BMD):LDL cholesterol:Gene expression of DHRS8 in blood:Serum ratio of
(deoxycholate)/(indoleacetate):Age at death with kuru exposure:Sporadic
Creutzfeldt-Jakob disease:Birth weight:Gene expression of HSD17B13 (probeID
ILMN_2204576) in cerebellum in Alzheimer's disease cases and
controls:Parkinson's disease:Gene expression of HSD17B13 (probeID
ILMN_2204576) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of HSD17B13 in normal prepouch ileum |
|
4 |
88902692 |
1 |
SPP1 |
T |
C |
exonic |
synonymous SNV |
SPP1:NM_001251829:exon4:c.T159C:p.D53D,SPP1:NM_000582:exon5:c.T240C:p.D80D,SPP1:NM_001040060:exon5:c.T201C:p.D67D,SPP1:NM_001040058:exon6:c.T282C:p.D94D,SPP1:NM_001251830:exon7:c.T321C:p.D107D |
RS4754 |
Serum creatinine:Triglycerides:Serum
concentration of lysine |
|
4 |
88903853 |
1 |
SPP1 |
C |
T |
exonic |
synonymous SNV |
SPP1:NM_001251829:exon5:c.C627T:p.A209A,SPP1:NM_000582:exon6:c.C708T:p.A236A,SPP1:NM_001040060:exon6:c.C669T:p.A223A,SPP1:NM_001040058:exon7:c.C750T:p.A250A,SPP1:NM_001251830:exon8:c.C789T:p.A263A |
|
4 |
95170839 |
1 |
SMARCAD1 |
G |
A |
exonic |
nonsynonymous SNV |
SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N |
RS11722476 |
Irritible bowel
syndrome:Schizophrenia:Differential exon level expression of SMARCAD1 [probe
2736280] in brain cortex:Differential exon level expression of SMARCAD1
[probe 2736280] in peripheral blood mononuclear cells:Barnes Akathisia Rating
Scale:2 hour glucose:Fasting blood glucose:Total cholesterol change with
statins:Triglycerides change with statins:Lp-PLA2 activity:LDL
cholesterol:Serum ratio of (1-methylxanthine)/(arabinose):Bipolar
disorder:Capecitabine sensitivity:Transmission distortion:Birth
weight:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
4 |
95197520 |
1 |
SMARCAD1 |
C |
T |
exonic |
synonymous SNV |
SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D |
RS6823404 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Triglycerides:Bipolar
disorder:Birth weight:Gene expression of SMARCAD1 (ENSG00000163104) in
dendritic cells treated with Mycobacterium tuberculosis |
|
4 |
95496882 |
1 |
PDLIM5 |
C |
T |
exonic |
nonsynonymous SNV |
PDLIM5:NM_001256428:exon4:c.C41T:p.S14F,PDLIM5:NM_006457:exon5:c.C407T:p.S136F |
RS2452600 |
Irritible bowel syndrome:Prostate
cancer:Alzheimer's disease:Serum creatinine:Neuroblastoma (brain
cancer):Urinary albumin-to-creatinine ratio:Gene expression of PDLIM5 in
blood:Serum ratio of (glycine)/(serine):Diastolic blood pressure (DBP):Birth
weight:Salmonella-induced pyroptosis:Aortic valve calcium |
|
4 |
95539267 |
2 |
PDLIM5 |
G |
A |
exonic |
nonsynonymous SNV |
PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T |
|
4 |
95561459 |
2 |
PDLIM5 |
A |
G |
exonic |
nonsynonymous SNV |
PDLIM5:NM_001256425:exon8:c.A166G:p.T56A,PDLIM5:NM_001256428:exon8:c.A775G:p.T259A,PDLIM5:NM_001011513:exon9:c.A814G:p.T272A,PDLIM5:NM_006457:exon9:c.A1141G:p.T381A,PDLIM5:NM_001256427:exon10:c.A832G:p.T278A,PDLIM5:NM_001256426:exon13:c.A1228G:p.T410A |
RS7690296 |
Prostate cancer:Urinary
albumin-to-creatinine ratio:Gene expression of PDLIM5 in blood:Serum ratio of
(3-hydroxybutyrate (BHBA))/(biliverdin):College completion:Years of
education:Aortic valve calcium |
|
4 |
95578588 |
2 |
PDLIM5 |
G |
A |
exonic |
nonsynonymous SNV |
PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N |
|
4 |
100048414 |
2 |
ADH4 |
T |
C |
exonic |
nonsynonymous SNV |
ADH4:NM_000670:exon7:c.A925G:p.I309V,ADH4:NM_001306171:exon8:c.A982G:p.I328V,ADH4:NM_001306172:exon8:c.A982G:p.I328V |
RS1126671 |
Schizophrenia:HOMA-IR:Fasting
insulin:HOMA-B:Hostility (Left amygdala activation):Total cholesterol:LDL
cholesterol:Triglycerides:HDL cholesterol:Serum ratio of
(3-methylhistidine)/(bilirubin (E,E)*):Birth weight:Gene expression of ADH4
in normal prepouch ileum:Gene expression of ADH5 in normal prepouch ileum |
|
4 |
100052733 |
2 |
ADH4 |
C |
A |
exonic |
synonymous SNV |
ADH4:NM_000670:exon6:c.G765T:p.P255P,ADH4:NM_001306171:exon7:c.G822T:p.P274P,ADH4:NM_001306172:exon7:c.G822T:p.P274P |
RS1126670 |
Schizophrenia:HOMA-IR:Fasting
insulin:HOMA-B:FVII in plasma:Total cholesterol:LDL
cholesterol:Triglycerides:HDL cholesterol:Serum ratio of
(3-methylhistidine)/(bilirubin (E,E)*):Birth weight |
|
4 |
100062819 |
2 |
ADH4 |
A |
G |
exonic |
synonymous SNV |
ADH4:NM_000670:exon3:c.T135C:p.S45S,ADH4:NM_001306171:exon4:c.T192C:p.S64S,ADH4:NM_001306172:exon4:c.T192C:p.S64S |
RS2032349 |
Partial epilepsy:Serum ratio of
(serine)/(uridine) |
|
4 |
100140306 |
2 |
ADH6 |
A |
T |
exonic |
nonsynonymous SNV |
ADH6:NM_000672:exon1:c.T4A:p.C2S,ADH6:NM_001102470:exon1:c.T4A:p.C2S |
|
4 |
100496105 |
1 |
MTTP |
C |
G |
exonic |
synonymous SNV |
MTTP:NM_000253:exon2:c.C39G:p.S13S |
RS7667001 |
Obesity with early age of onset (age
>2) |
|
4 |
100510859 |
1 |
MTTP |
T |
C |
exonic |
synonymous SNV |
MTTP:NM_001300785:exon4:c.T534C:p.G178G,MTTP:NM_000253:exon5:c.T453C:p.G151G |
RS991811 |
Gene expression of ZNF268 in
liver:Gene expression of BC033397 in liver:Gene expression of PKN2 in
liver:Gene expression of DNAJB14 in liver:Premature ovarian failure:LDL
cholesterol:Total cholesterol:HDL cholesterol:Serum concentration of
stachydrine:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset
hypertension) |
|
4 |
100518247 |
1 |
MTTP |
C |
A |
exonic |
synonymous SNV |
MTTP:NM_001300785:exon8:c.C1014A:p.T338T,MTTP:NM_000253:exon9:c.C933A:p.T311T |
RS17029213 |
Autism:Comorbid depressive syndrome
and alcohol dependence:Obesity with early age of onset (age >2) |
|
4 |
100521805 |
1 |
MTTP |
A |
C |
exonic |
nonsynonymous SNV |
MTTP:NM_001300785:exon9:c.A1232C:p.D411A,MTTP:NM_000253:exon10:c.A1151C:p.D384A |
RS17029215 |
HOMA-B:Systolic blood pressure
(SBP):Comorbid depressive syndrome and alcohol dependence |
|
4 |
103514658 |
2 |
NFKB1 |
T |
C |
exonic |
synonymous SNV |
NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_001319226:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A |
|
4 |
103555992 |
2 |
MANBA |
A |
G |
exonic |
synonymous SNV |
MANBA:NM_005908:exon16:c.T2368C:p.L790L |
RS2272697 |
Differential splicing of MANBA
[probeset 2779932] in lymphoblastoid cell lines:HOMA-B:Fasting blood
glucose:Serum creatinine:Height:Body mass index (BMI):Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular
calcium |
|
4 |
103557077 |
2 |
MANBA |
G |
A |
exonic |
nonsynonymous SNV |
MANBA:NM_005908:exon15:c.C2102T:p.T701M |
RS2866413 |
Irritible bowel
syndrome:Differential splicing of MANBA [probeset 2779932] in lymphoblastoid
cell lines:Fasting blood glucose:HOMA-B:Serum creatinine:Primary biliary
cirrhosis (antimitochondrial-antibody positive only):Primary biliary
cirrhosis:Breast cancer:Height:Primary biliary cirrhosis:Gene expression of
MANBA in blood:Primary biliary cirrhosis:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium |
|
4 |
106604190 |
1 |
INTS12 |
A |
G |
exonic |
synonymous SNV |
INTS12:NM_001142471:exon7:c.T1089C:p.P363P,INTS12:NM_020395:exon8:c.T1089C:p.P363P |
RS35370743 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
4 |
106604364 |
1 |
INTS12 |
A |
G |
exonic |
synonymous SNV |
INTS12:NM_001142471:exon7:c.T915C:p.P305P,INTS12:NM_020395:exon8:c.T915C:p.P305P |
|
4 |
108575989 |
2 |
PAPSS1 |
G |
A |
exonic |
synonymous SNV |
PAPSS1:NM_005443:exon8:c.C963T:p.D321D |
RS3733633 |
Triglycerides change with
statins:Diabetic retinopathy in Type 2 diabetes mellitus |
|
4 |
108641300 |
2 |
PAPSS1 |
T |
C |
exonic |
synonymous SNV |
PAPSS1:NM_005443:exon1:c.A36G:p.K12K |
RS973126 |
Eye color:Total cholesterol:Serum
creatinine:Gene expression of PAPSS1 in CD4+ lymphocytes:Gene expression of
PAPSS1 [transcript NM_005443, probe A_23_P144465] in liver:Serum
concentration of guanosine:Gene expression of PAPSS1 in normal prepouch
ileum:Obesity with early age of onset (age >2) |
|
4 |
108641317 |
1 |
PAPSS1 |
G |
A |
exonic |
synonymous SNV |
PAPSS1:NM_005443:exon1:c.C19T:p.L7L |
|
4 |
110638810 |
1 |
PLA2G12A |
C |
T |
exonic |
synonymous SNV |
PLA2G12A:NM_030821:exon3:c.G345A:p.E115E |
RS2285714 |
LDL cholesterol:HOMA-B:Total
cholesterol:LDL cholesterol:Age-related macular degeneration:Age-related
macular degeneration (neovascular):Age-related macular degeneration
(geographic atrophy):Age-related macular degeneration (large
drusen):Height:Contig27275_RC gene expression in liver tissue:Gene expression
of CASP6 (probeID ILMN_2367113) in cerebellum in Alzheimer's disease cases
and controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene
expression of CASP6 (probeID ILMN_1659350) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of CASP6 (probeID ILMN_2367113) in
cerebellum in Alzheimer's disease cases:Birth weight:Advanced age-related
macular degeneration (geographic atrophy) |
|
4 |
110737389 |
2 |
GAR1 |
T |
C |
exonic |
synonymous SNV |
GAR1:NM_018983:exon2:c.T69C:p.G23G,GAR1:NM_032993:exon2:c.T69C:p.G23G |
|
4 |
113066831 |
2 |
C4orf32 |
G |
A |
exonic |
nonsynonymous SNV |
C4orf32:NM_152400:exon1:c.G95A:p.G32E |
|
4 |
113199075 |
2 |
TIFA |
A |
G |
exonic |
synonymous SNV |
TIFA:NM_052864:exon2:c.T498C:p.Y166Y |
RS701759 |
Triglycerides:Systolic blood
pressure (SBP):Obesity with early age of onset (age >2) |
|
4 |
113352628 |
2 |
ALPK1 |
A |
G |
exonic |
nonsynonymous SNV |
ALPK1:NM_001253884:exon10:c.A1691G:p.H564R,ALPK1:NM_001102406:exon11:c.A1925G:p.H642R,ALPK1:NM_025144:exon11:c.A1925G:p.H642R |
RS13148353 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
4 |
113353285 |
2 |
ALPK1 |
T |
C |
exonic |
nonsynonymous SNV |
ALPK1:NM_001253884:exon10:c.T2348C:p.M783T,ALPK1:NM_001102406:exon11:c.T2582C:p.M861T,ALPK1:NM_025144:exon11:c.T2582C:p.M861T |
RS11726117 |
Schizophrenia:Differential exon
level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear
cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Serum ratio
of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol) |
|
4 |
113359703 |
2 |
ALPK1 |
A |
G |
exonic |
synonymous SNV |
ALPK1:NM_001253884:exon12:c.A3018G:p.R1006R,ALPK1:NM_001102406:exon13:c.A3252G:p.R1084R,ALPK1:NM_025144:exon13:c.A3252G:p.R1084R |
RS231247 |
Schizophrenia:Differential exon
level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear
cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Asthma:Gene
expression of AC023886.7 in blood:Serum ratio of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Systolic
blood pressure (SBP):Bipolar disorder |
|
4 |
119652606 |
1 |
SEC24D |
G |
T |
exonic |
synonymous SNV |
SEC24D:NM_001318066:exon21:c.C2736A:p.S912S,SEC24D:NM_014822:exon21:c.C2733A:p.S911S |
|
4 |
119736701 |
1 |
SEC24D |
G |
A |
exonic |
nonsynonymous SNV |
SEC24D:NM_001318066:exon5:c.C578T:p.P193L,SEC24D:NM_014822:exon5:c.C578T:p.P193L |
RS6844109 |
Salmonella-induced pyroptosis |
|
4 |
119736796 |
1 |
SEC24D |
A |
C |
exonic |
synonymous SNV |
SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P |
RS2389688 |
Gene expression change of SEC24D
(ENSG00000150961) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
4 |
120181724 |
2 |
USP53 |
A |
G |
exonic |
synonymous SNV |
USP53:NM_019050:exon10:c.A738G:p.T246T |
|
4 |
122737965 |
1 |
EXOSC9 |
G |
C |
exonic |
nonsynonymous SNV |
EXOSC9:NM_005033:exon12:c.G1274C:p.S425T,EXOSC9:NM_001034194:exon13:c.G1325C:p.S442T |
RS1051881 |
Triglycerides:HDL
cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP) |
|
4 |
122741807 |
1 |
CCNA2 |
C |
T |
exonic |
synonymous SNV |
CCNA2:NM_001237:exon4:c.G684A:p.Q228Q |
RS769243 |
Barnes Akathisia Rating
Scale:Diastolic blood pressure (DBP):Systolic blood pressure (SBP) |
|
4 |
122742217 |
2 |
CCNA2 |
T |
C |
exonic |
nonsynonymous SNV |
CCNA2:NM_001237:exon3:c.A487G:p.I163V |
RS769242 |
Triglycerides |
|
4 |
125592065 |
1 |
ANKRD50 |
C |
A |
exonic |
synonymous SNV |
ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A |
RS10018651 |
Gene expression of ANKRD50 in
peripheral blood monocytes:Microalbuminuria:Coronary artery disease
(CAD):Infant head circumference |
|
4 |
128814964 |
1 |
PLK4 |
G |
T |
exonic |
nonsynonymous SNV |
PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D |
RS17012739 |
Barnes Akathisia Rating Scale:2
hour glucose:Triglycerides:Comorbid depressive syndrome and alcohol
dependence:Infant head circumference:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
4 |
129012181 |
1 |
LARP1B |
G |
A |
exonic |
synonymous SNV |
LARP1B:NM_001278604:exon6:c.G384A:p.R128R,LARP1B:NM_018078:exon6:c.G384A:p.R128R,LARP1B:NM_032239:exon6:c.G384A:p.R128R,LARP1B:NM_178043:exon6:c.G384A:p.R128R |
RS2306054 |
Schizophrenia:Differential exon
level expression of LARP2 [probe 2743158] in brain cortex:Differential exon
level expression of LARP2 [probe 2743099] in peripheral blood mononuclear
cells:Differential exon level expression of LARP2 [probe 2743158] in peripheral
blood mononuclear cells:2 hour glucose:Triglycerides:Gene expression of
C4orf29 [transcript NM_001039717, probe A_23_P167358] in liver:Gene
expression of MFSD8 [transcript NM_152778, probe A_24_P303080] in
liver:Parkinson's disease (PD):Serum concentration of heme*:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(geographic atrophy) |
|
4 |
129012638 |
1 |
LARP1B |
A |
G |
exonic |
synonymous SNV |
LARP1B:NM_001278604:exon7:c.A639G:p.A213A,LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A |
RS1064205 |
Parkinson's disease (PD):2 hour
glucose:Triglycerides:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy) |
|
4 |
129043204 |
1 |
LARP1B |
C |
G |
exonic |
nonsynonymous SNV |
LARP1B:NM_001350531:exon9:c.C662G:p.P221R,LARP1B:NM_018078:exon11:c.C1385G:p.P462R,LARP1B:NM_178043:exon11:c.C1385G:p.P462R |
|
4 |
129043286 |
1 |
LARP1B |
C |
T |
exonic |
synonymous SNV |
LARP1B:NM_001350531:exon9:c.C744T:p.Y248Y,LARP1B:NM_018078:exon11:c.C1467T:p.Y489Y,LARP1B:NM_178043:exon11:c.C1467T:p.Y489Y |
RS3733320 |
Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
4 |
129924977 |
2 |
SCLT1 |
C |
A |
exonic |
synonymous SNV |
SCLT1:NM_144643:exon6:c.G345T:p.L115L |
RS3113487 |
Differential exon level expression
of SCLT1 [probe 2785322] in peripheral blood mononuclear cells:Differential
exon level expression of SCLT1 [probe 2785321] in peripheral blood
mononuclear cells:Differential exon level expression of SCLT1 [probe 2785316]
in peripheral blood mononuclear cells:Total cholesterol:Partial
epilepsy:Neuroblastoma (brain cancer):Microalbuminuria:Gene expression of
AC093826.1 in blood:PROP taste detection threshold:Resistance to kuru in aged
women despite likely exposure:Gene expression of C4orf33 in normal prepouch
ileum:Primary rhegmatogenous retinal detachment |
|
4 |
130030652 |
2 |
C4orf33 |
A |
G |
exonic |
nonsynonymous SNV |
C4orf33:NM_001099783:exon5:c.A319G:p.M107V,C4orf33:NM_173487:exon5:c.A319G:p.M107V |
RS337277 |
Gene expression of LOC132321 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C4orf33 [probe
1552370_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Gene expression of C4orf33 in Lymphoblastoid cell lines:Autism:Gene
expression of C4orf33 in CD4+ lymphocytes:Gene expression of AC093826.1 in
blood:Gene expression of C4ORF33 in liver:Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Infant head circumference:Gene
expression of C4orf33 in normal prepouch ileum:Tetrology of fallot:College
completion |
|
4 |
139140494 |
1 |
SLC7A11 |
G |
C |
exonic |
synonymous SNV |
SLC7A11:NM_014331:exon5:c.C672G:p.A224A |
RS6838248 |
PROP taste detection
threshold:Mitral annular calcium |
|
4 |
141543997 |
1 |
TBC1D9 |
G |
A |
exonic |
synonymous SNV |
TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H |
RS1560440 |
Neuroblastoma (brain
cancer):Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension) |
|
4 |
144135718 |
1 |
USP38 |
G |
A |
exonic |
synonymous SNV |
USP38:NM_001290325:exon9:c.G2589A:p.R863R,USP38:NM_032557:exon9:c.G2589A:p.R863R,USP38:NM_001290326:exon10:c.G1224A:p.R408R |
RS4285045 |
HDL cholesterol:Serum
creatinine:Cystatin C in serum:Height:Systolic blood pressure
(SBP):Adiponectin levels:Salmonella-induced pyroptosis |
|
4 |
144467104 |
2 |
SMARCA5 |
T |
C |
exonic |
synonymous SNV |
SMARCA5:NM_003601:exon19:c.T2424C:p.N808N |
|
4 |
146058924 |
1 |
OTUD4 |
A |
T |
exonic |
synonymous SNV |
OTUD4:NM_001102653:exon21:c.T2808A:p.A936A |
|
4 |
152682046 |
1 |
GATB |
G |
T |
exonic |
nonsynonymous SNV |
GATB:NM_004564:exon1:c.C89A:p.A30D |
RS11556167 |
Schizophrenia:Eur students <30
Immediate Story Recall:Serum creatinine:Gene expression of PET112L in
blood:Serum ratio of (erythritol)/(palmitoleate (16:1n7)):Refractive error |
|
4 |
153633359 |
2 |
|
4 |
155488821 |
1 |
FGB |
C |
T |
exonic |
synonymous SNV |
FGB:NM_001184741:exon4:c.C390T:p.S130S,FGB:NM_005141:exon4:c.C567T:p.S189S |
RS6056 |
Plasma fibrinogen:Plasma fibrinogen
(females):Fibrinogen:Serum ratio of
(2-linoleoylglycerophosphocholine*)/(3-methoxytyrosine) |
|
4 |
155490832 |
1 |
FGB |
C |
T |
exonic |
synonymous SNV |
FGB:NM_001184741:exon7:c.C948T:p.Y316Y,FGB:NM_005141:exon7:c.C1125T:p.Y375Y |
RS4681 |
Coronary artery disease
(CAD):Plasma fibrinogen:Gene expression of DHRS13 in peripheral blood
monocytes |
|
4 |
159076826 |
2 |
FAM198B |
C |
T |
exonic |
synonymous SNV |
FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S |
RS6830702 |
HOMA-B:Fasting blood glucose:Waist
hip ratio:Advanced age-related macular degeneration (geographic
atrophy):Birth weight |
|
4 |
159601676 |
2 |
ETFDH |
C |
T |
exonic |
nonsynonymous SNV |
ETFDH:NM_004453:exon2:c.C92T:p.T31I |
RS11559290 |
Lp-PLA2 mass:HDL
cholesterol:Triglycerides:Birth weight:Primary rhegmatogenous retinal
detachment |
|
4 |
159782889 |
1 |
FNIP2 |
G |
T |
exonic |
nonsynonymous SNV |
FNIP2:NM_001346043:exon11:c.G364T:p.A122S,FNIP2:NM_001323916:exon12:c.G1495T:p.A499S,FNIP2:NM_020840:exon12:c.G1426T:p.A476S |
|
4 |
159789441 |
1 |
FNIP2 |
C |
A |
exonic |
nonsynonymous SNV |
FNIP2:NM_001346043:exon12:c.C591A:p.S197R,FNIP2:NM_001323916:exon13:c.C1722A:p.S574R,FNIP2:NM_020840:exon13:c.C1653A:p.S551R |
|
4 |
164048199 |
2 |
NAF1 |
G |
C |
exonic |
nonsynonymous SNV |
NAF1:NM_001128931:exon8:c.C1102G:p.L368V |
|
4 |
164085425 |
2 |
NAF1 |
T |
C |
exonic |
nonsynonymous SNV |
NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V |
RS4691896 |
HOMA-B:Urinary albumin-to-creatinine
ratio:Bipolar disorder |
|
4 |
164440581 |
2 |
TMA16 |
T |
C |
exonic |
nonsynonymous SNV |
TMA16:NM_018352:exon7:c.T527C:p.I176T |
RS1561736 |
Serum creatinine:Microalbuminuria |
|
4 |
165890654 |
2 |
TRIM61 |
C |
T |
exonic |
synonymous SNV |
TRIM61:NM_001012414:exon3:c.G501A:p.R167R |
|
4 |
165890663 |
2 |
TRIM61 |
C |
T |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.G492A:p.M164I |
|
4 |
165890719 |
2 |
TRIM61 |
C |
G |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.G436C:p.E146Q |
|
4 |
165890772 |
2 |
TRIM61 |
T |
C |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.A383G:p.H128R |
|
4 |
166141116 |
1 |
KLHL2 |
C |
T |
exonic |
synonymous SNV |
KLHL2:NM_001161521:exon2:c.C69T:p.L23L,KLHL2:NM_007246:exon2:c.C57T:p.L19L |
|
4 |
169799448 |
2 |
PALLD |
A |
G |
exonic |
nonsynonymous SNV |
PALLD:NM_001166110:exon2:c.A406G:p.S136G |
|
4 |
169928842 |
2 |
CBR4 |
G |
T |
exonic |
nonsynonymous SNV |
CBR4:NM_032783:exon2:c.C208A:p.L70M |
RS2877380 |
LDL cholesterol:Chronic kidney
disease:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:PROP taste
detection threshold |
|
4 |
170663235 |
2 |
HPF1 |
C |
T |
exonic |
nonsynonymous SNV |
HPF1:NM_017867:exon5:c.G521A:p.R174K |
RS1047642 |
Gene expression of [probe 1440102
centered at chr4:171120917] in blood |
|
4 |
175225452 |
1 |
CEP44 |
G |
A |
exonic |
nonsynonymous SNV |
CEP44:NM_001040157:exon6:c.G439A:p.G147S,CEP44:NM_001145314:exon6:c.G439A:p.G147S |
RS4695918 |
Amyotrophic lateral sclerosis
(ALS):Gene expression of KIAA1712 in YRI lymphoblastoid cell
lines:Differential exon level expression of KIAA1712 [probe 2752254] in brain
cortex:Differential exon level expression of KIAA1712 [probe 2752254] in
peripheral blood mononuclear cells:Refractive error:Gene expression of CEP44
in normal prepouch ileum:College completion |
|
4 |
175237408 |
2 |
CEP44 |
T |
C |
exonic |
synonymous SNV |
CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T |
RS1553669 |
Gene expression of KIAA1712 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of GLRA3 in
liver:Gene expression of KIAA1712 in liver:Eye color:Gene expression of
KIAA1712 [transcript NM_001145314, probe A_23_P385911] in liver:Age at death
with kuru exposure:Gene expression of CEP44 in normal prepouch
ileum:Tetrology of fallot:College completion |
|
4 |
178262683 |
2 |
NEIL3 |
T |
C |
exonic |
synonymous SNV |
NEIL3:NM_018248:exon6:c.T756C:p.P252P |
RS17676249 |
LDL cholesterol:HDL cholesterol
change with statins:LDL cholesterol:Total cholesterol |
|
4 |
178274565 |
2 |
NEIL3 |
A |
G |
exonic |
synonymous SNV |
NEIL3:NM_018248:exon8:c.A1143G:p.R381R |
RS2048074 |
Amyotrophic lateral sclerosis
(ALS):Hip bone mineral density (BMD):Cystatin C in serum:Serum ratio of
(erythrose)/(palmitoylcarnitine):Diabetic retinopathy in Type 2 diabetes
mellitus:Hypertension (early onset hypertension) |
|
4 |
178274835 |
2 |
NEIL3 |
A |
C |
exonic |
nonsynonymous SNV |
NEIL3:NM_018248:exon8:c.A1413C:p.Q471H |
RS13112390 |
Amyotrophic lateral sclerosis
(ALS):Hip bone mineral density (BMD):Fasting insulin:Cystatin C in
serum:Hypertension (early onset hypertension) |
|
4 |
178281754 |
2 |
NEIL3 |
G |
A |
exonic |
nonsynonymous SNV |
NEIL3:NM_018248:exon9:c.G1558A:p.G520R |
RS1876268 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Serum concentration of citrate:Birth
weight |
|
4 |
178359960 |
2 |
AGA |
G |
C |
exonic |
nonsynonymous SNV |
AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S |
|
4 |
184426387 |
2 |
ING2 |
C |
T |
exonic |
synonymous SNV |
ING2:NM_001564:exon1:c.C39T:p.A13A |
RS8872 |
Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Serum creatinine:Obesity with early age of onset (age
>2):Diabetic retinopathy in Type 2 diabetes mellitus |
|
4 |
185587165 |
2 |
PRIMPOL |
A |
G |
exonic |
nonsynonymous SNV |
PRIMPOL:NM_001300767:exon5:c.A116G:p.Q39R,PRIMPOL:NM_001300768:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345891:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345892:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345893:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345895:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345896:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345899:exon6:c.A503G:p.Q168R,PRIMPOL:NM_152683:exon6:c.A503G:p.Q168R |
|
4 |
185599489 |
2 |
PRIMPOL |
G |
A |
exonic |
synonymous SNV |
PRIMPOL:NM_001345900:exon6:c.G423A:p.Q141Q,PRIMPOL:NM_001345901:exon6:c.G252A:p.Q84Q,PRIMPOL:NM_001300767:exon7:c.G561A:p.Q187Q,PRIMPOL:NM_001345894:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345897:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345898:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001300768:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345891:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345892:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345893:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345895:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345896:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_152683:exon8:c.G948A:p.Q316Q |
|
4 |
185615764 |
2 |
PRIMPOL |
C |
A |
exonic |
nonsynonymous SNV |
PRIMPOL:NM_001345899:exon12:c.C1262A:p.T421K,PRIMPOL:NM_001345900:exon12:c.C989A:p.T330K,PRIMPOL:NM_001345901:exon12:c.C818A:p.T273K,PRIMPOL:NM_001300767:exon13:c.C1127A:p.T376K,PRIMPOL:NM_001345897:exon13:c.C818A:p.T273K,PRIMPOL:NM_001345898:exon13:c.C815A:p.T272K,PRIMPOL:NM_001300768:exon14:c.C1511A:p.T504K,PRIMPOL:NM_001345894:exon14:c.C857A:p.T286K,PRIMPOL:NM_001345895:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345896:exon14:c.C1511A:p.T504K,PRIMPOL:NM_152683:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345891:exon15:c.C1553A:p.T518K,PRIMPOL:NM_001345892:exon15:c.C1550A:p.T517K,PRIMPOL:NM_001345893:exon15:c.C1550A:p.T517K |
RS14969 |
Systolic blood pressure
(SBP):Advanced age-related macular degeneration (geographic atrophy) |
|
4 |
185615768 |
2 |
PRIMPOL |
T |
G |
exonic |
synonymous SNV |
PRIMPOL:NM_001345899:exon12:c.T1266G:p.G422G,PRIMPOL:NM_001345900:exon12:c.T993G:p.G331G,PRIMPOL:NM_001345901:exon12:c.T822G:p.G274G,PRIMPOL:NM_001300767:exon13:c.T1131G:p.G377G,PRIMPOL:NM_001345897:exon13:c.T822G:p.G274G,PRIMPOL:NM_001345898:exon13:c.T819G:p.G273G,PRIMPOL:NM_001300768:exon14:c.T1515G:p.G505G,PRIMPOL:NM_001345894:exon14:c.T861G:p.G287G,PRIMPOL:NM_001345895:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345896:exon14:c.T1515G:p.G505G,PRIMPOL:NM_152683:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345891:exon15:c.T1557G:p.G519G,PRIMPOL:NM_001345892:exon15:c.T1554G:p.G518G,PRIMPOL:NM_001345893:exon15:c.T1554G:p.G518G |
RS3184982 |
Height |
|
4 |
185637699 |
2 |
CENPU |
A |
G |
exonic |
nonsynonymous SNV |
CENPU:NM_024629:exon6:c.T470C:p.I157T |
RS6552804 |
Eye color:High-grade
glioma:Height:Gene expression of CASP3 in blood:Gene expression of MLF1IP
[probeset 229305_at] in sputum |
|
4 |
185650154 |
2 |
CENPU |
G |
A |
exonic |
synonymous SNV |
CENPU:NM_024629:exon3:c.C132T:p.F44F |
RS6818447 |
Systolic blood pressure (SBP) |
|
4 |
185686032 |
2 |
ACSL1 |
C |
T |
exonic |
synonymous SNV |
ACSL1:NM_001286711:exon14:c.G1305A:p.L435L,ACSL1:NM_001286708:exon15:c.G1407A:p.L469L,ACSL1:NM_001286710:exon15:c.G1407A:p.L469L,ACSL1:NM_001995:exon15:c.G1407A:p.L469L,ACSL1:NM_001286712:exon16:c.G894A:p.L298L |
|
4 |
186097045 |
1 |
CFAP97 |
C |
T |
exonic |
synonymous SNV |
CFAP97:NM_001292033:exon3:c.G1215A:p.P405P,CFAP97:NM_020827:exon3:c.G1215A:p.P405P |
RS6855305 |
Gene expression of KIAA1430 [probe
230569_at] in lymphoblastoid cell lines:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Salmonella-induced pyroptosis |
|
4 |
186111639 |
1 |
CFAP97 |
T |
C |
exonic |
nonsynonymous SNV |
CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A |
RS386518075 |
Years of education:Birth
weight:Breast cancer |
|
4 |
186112111 |
1 |
CFAP97 |
G |
A |
exonic |
synonymous SNV |
CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P |
RS3108237 |
PROP taste detection
threshold:Salmonella-induced pyroptosis |
|
4 |
187113041 |
1 |
CYP4V2 |
C |
G |
exonic |
nonsynonymous SNV |
CYP4V2:NM_207352:exon1:c.C64G:p.L22V |
|
4 |
187516880 |
1 |
FAT1 |
A |
G |
exonic |
synonymous SNV |
FAT1:NM_005245:exon26:c.T13101C:p.S4367S |
RS1298865 |
Total cholesterol:PROP taste
detection threshold:Advanced age-related macular degeneration (geographic
atrophy):Mitral annular calcium |
|
4 |
187519206 |
2 |
FAT1 |
C |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon23:c.G12177C:p.K4059N |
|
4 |
187525020 |
1 |
FAT1 |
A |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon19:c.T10660G:p.S3554A |
RS2637777 |
HIV-1 control (viral load at set
point):PROP taste detection threshold:Mitral annular calcium |
|
4 |
187534363 |
1 |
FAT1 |
G |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon13:c.C9363T:p.N3121N |
RS2249916 |
Body mass index (BMI):Advanced
age-related macular degeneration (geographic atrophy) |
|
4 |
187534375 |
1 |
FAT1 |
A |
G |
exonic |
synonymous SNV |
FAT1:NM_005245:exon13:c.T9351C:p.D3117D |
RS2249917 |
Irritible bowel syndrome:Diabetic
retinopathy in Type 2 diabetes mellitus:Parkinson's disease |
|
4 |
187538330 |
1 |
FAT1 |
G |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon11:c.C8904T:p.A2968A |
RS1280099 |
Differential exon level expression
of FAT [probe 2797432] in brain cortex:Asthma:Severe diabetic
retinopathy:Parkinson's disease:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
4 |
187538942 |
1 |
FAT1 |
T |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon10:c.A8798C:p.Q2933P |
|
4 |
187539217 |
1 |
FAT1 |
G |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon10:c.C8523T:p.N2841N |
RS3733405 |
LDL cholesterol:Triglycerides
change with statins:Total cholesterol change with statins:Total
cholesterol:Triglycerides |
|
4 |
187540635 |
1 |
FAT1 |
T |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon10:c.A7105C:p.T2369P |
|
4 |
187540654 |
1 |
FAT1 |
T |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon10:c.A7086T:p.A2362A |
RS3796647 |
Triglycerides change with
statins:Total cholesterol change with statins:Total cholesterol:Triglycerides |
|
4 |
187540918 |
1 |
FAT1 |
G |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon10:c.C6822G:p.D2274E |
RS3796648 |
Triglycerides |
|
4 |
187541761 |
1 |
FAT1 |
G |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon10:c.C5979T:p.T1993T |
RS3733407 |
Triglycerides change with
statins:Total cholesterol change with statins:Total cholesterol:Triglycerides |
|
4 |
187542316 |
1 |
FAT1 |
T |
C |
exonic |
synonymous SNV |
FAT1:NM_005245:exon10:c.A5424G:p.V1808V |
RS2099854 |
Triglycerides change with
statins:Total cholesterol change with statins:Total cholesterol:Triglycerides |
|
4 |
187542736 |
1 |
FAT1 |
T |
C |
exonic |
synonymous SNV |
FAT1:NM_005245:exon10:c.A5004G:p.T1668T |
|
4 |
187549428 |
1 |
FAT1 |
C |
T |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon9:c.G4690A:p.A1564T |
RS2304867 |
Total cholesterol change with
statins:Triglycerides change with statins:Total cholesterol:LDL cholesterol
change with statins:Triglycerides:Serum concentration of lysine |
|
4 |
187557893 |
1 |
FAT1 |
T |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon5:c.A3818G:p.H1273R |
RS328418 |
Celiac disease:Irritible bowel
syndrome:Triglycerides change with statins:Gene expression of TEAD3 in
peripheral blood monocytes:Serum concentration of pro-hydroxy-pro:Advanced
age-related macular degeneration (geographic atrophy) |
|
4 |
187627792 |
1 |
FAT1 |
T |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon2:c.A3190G:p.R1064G |
RS11939575 |
Asthma:Serum ratio of
(1-eicosadienoylglycerophosphocholine*)/(ascorbate (Vitamin C)):Bipolar
disorder:Tetrology of fallot |
|
4 |
187628398 |
1 |
FAT1 |
C |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon2:c.G2584C:p.V862L |
RS1877731 |
Gene expression of HHIPL1 in
peripheral blood monocytes:Bipolar disorder |
|
4 |
187629140 |
1 |
FAT1 |
G |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon2:c.C1842G:p.F614L |
|
4 |
190876204 |
1 |
FRG1 |
G |
A |
exonic |
synonymous SNV |
FRG1:NM_004477:exon5:c.G330A:p.K110K |
|
4 |
190876242 |
1 |
FRG1 |
G |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.G368A:p.G123E |
|
4 |
190883001 |
1 |
FRG1 |
C |
G |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon8:c.C654G:p.D218E |
|
5 |
311478 |
1 |
PDCD6 |
T |
C |
exonic |
synonymous SNV |
PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I |
RS2244029 |
HDL cholesterol:Total cholesterol |
|
5 |
1057615 |
2 |
SLC12A7 |
A |
G |
exonic |
synonymous SNV |
SLC12A7:NM_006598:exon22:c.T2997C:p.S999S |
RS2241606 |
Fasting blood glucose:HOMA-B |
|
5 |
1063998 |
1 |
SLC12A7 |
G |
A |
exonic |
synonymous SNV |
SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y |
RS7722287 |
Serum creatinine:Birth weight |
|
5 |
1081767 |
1 |
SLC12A7 |
C |
T |
exonic |
nonsynonymous SNV |
SLC12A7:NM_006598:exon9:c.G1222A:p.A408T |
RS4526148 |
Fasting blood glucose:HDL
cholesterol:Triglycerides:Birth weight |
|
5 |
1318491 |
1 |
CLPTM1L |
G |
A |
exonic |
nonsynonymous SNV |
CLPTM1L:NM_030782:exon17:c.C1610T:p.T537M |
|
5 |
5460569 |
2 |
ICE1 |
C |
T |
exonic |
synonymous SNV |
ICE1:NM_015325:exon13:c.C1122T:p.Y374Y |
RS2578565 |
Total cholesterol:Height:Parkinson's
disease |
|
5 |
5460619 |
2 |
ICE1 |
G |
C |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.G1172C:p.C391S |
RS2619844 |
Total cholesterol:Height:Parkinson's
disease |
|
5 |
5462148 |
2 |
ICE1 |
G |
A |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.G2701A:p.V901I |
RS2578500 |
Total
cholesterol:Height:Parkinson's disease:Gene expression of KIAA0947
(ENSG00000164151) in dendritic cells |
|
5 |
7866967 |
2 |
FASTKD3 |
G |
C |
exonic |
synonymous SNV |
FASTKD3:NM_024091:exon2:c.C1230G:p.A410A |
RS162030 |
Gene expression of MTRR in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with
statins:Total cholesterol:Gene expression of MTRR in Temporal cortex:Gene
expression of MTRR in Frontal cortex:Gene expression of MTRR in
Cerebellum:Gene expression of FASTKD3 in peripheral blood monocytes:Gene
expression of MTRR in peripheral blood monocytes:Salmonella-induced
pyroptosis:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID
ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls |
|
5 |
7870973 |
1 |
MTRR |
A |
G |
exonic |
nonsynonymous SNV |
MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024010:exon2:c.A147G:p.I49M |
RS1801394 |
Gene expression of MTRR in Frontal
cortex:Gene expression of MTRR in Cerebellum:Gene expression of MTRR in
Temporal cortex:Total cholesterol:LDL cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of MTRR (probeID ILMN_1718932) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of MTRR
(probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and
controls:Refractive error:Gene expression of MTRR in normal prepouch ileum |
|
5 |
7878179 |
1 |
MTRR |
C |
T |
exonic |
nonsynonymous SNV |
MTRR:NM_002454:exon5:c.C524T:p.S175L,MTRR:NM_024010:exon5:c.C605T:p.S202L |
RS1532268 |
Schizophrenia:Total
cholesterol:Gene expression of MTRR in CD4+ lymphocytes:Gene expression of
MTRR in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste
detection threshold:Gene expression of MTRR (probeID ILMN_1718932) in
temporal cortex in Alzheimer's disease cases:Gene expression of MTRR (probeID
ILMN_1718932) in cerebellum in Alzheimer's disease cases:Gene expression of
MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
non-Alzheimer's disease samples:Gene expression of MTRR (probeID
ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy
cases:Mitral annular calcium:Gene expression of MTRR (probeID ILMN_1718932)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MTRR
(probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and
controls |
|
5 |
7878192 |
1 |
MTRR |
T |
C |
exonic |
synonymous SNV |
MTRR:NM_002454:exon5:c.T537C:p.L179L,MTRR:NM_024010:exon5:c.T618C:p.L206L |
|
5 |
7885959 |
1 |
MTRR |
A |
G |
exonic |
nonsynonymous SNV |
MTRR:NM_002454:exon7:c.A1049G:p.K350R,MTRR:NM_024010:exon7:c.A1130G:p.K377R |
RS162036 |
Gene expression of MTRR in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MTRR [probe
203200_s_at] in lymphoblastoid cell lines:Gene expression of KIAA1543 [probe
1568617_a_at] in lymphoblastoid cell lines:Gene expression of MTRR in liver:Circulating
Vitamin-B8 concentration:Alzheimer's disease:Total cholesterol:Gene
expression of AC010346.2 in blood:Gene expression of MTRR (probeID
ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MTRR (probeID ILMN_1718932) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of MTRR (probeID ILMN_1718932) in
temporal cortex in Alzheimer's disease cases:Years of education:Gene
expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease
cases:College completion:Gene expression of MTRR (probeID ILMN_1718932) in
cerebellum in non-Alzheimer's disease samples:Gene expression of MTRR
(probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in
Alzheimer's disease cases and controls |
|
5 |
7897191 |
1 |
MTRR |
C |
T |
exonic |
nonsynonymous SNV |
MTRR:NM_002454:exon14:c.C1783T:p.H595Y,MTRR:NM_024010:exon14:c.C1864T:p.H622Y |
RS10380 |
Gene expression of MTRR [probe
203200_s_at] in lymphoblastoid cell lines:Alzheimer's disease:Total
cholesterol:Gene expression of AC010346.2 in blood:Gene expression of MTRR
(probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
Alzheimer's disease cases:Years of education:Gene expression of MTRR (probeID
ILMN_1718932) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
non-Alzheimer's disease samples:Gene expression of MTRR (probeID
ILMN_1718932) in temporal cortex in Alzheimer's disease cases:College
completion:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MTRR (probeID
ILMN_1718932) in cerebellum in Progressive Supranuclear Palsy cases |
|
5 |
7897283 |
1 |
MTRR |
G |
A |
exonic |
synonymous SNV |
MTRR:NM_002454:exon14:c.G1875A:p.V625V,MTRR:NM_024010:exon14:c.G1956A:p.V652V |
RS12347 |
Gene expression of MTRR [probe
203200_s_at] in lymphoblastoid cell lines:Total cholesterol:Years of
education:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MTRR (probeID
ILMN_1718932) in temporal cortex in Alzheimer's disease cases and
controls:College completion |
|
5 |
7897319 |
1 |
MTRR |
G |
A |
exonic |
synonymous SNV |
MTRR:NM_002454:exon14:c.G1911A:p.A637A,MTRR:NM_024010:exon14:c.G1992A:p.A664A |
RS1802059 |
Total cholesterol:Comorbid
depressive syndrome and alcohol dependence:PROP taste detection
threshold:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MTRR (probeID
ILMN_1718932) in temporal cortex in Alzheimer's disease cases and
controls:Mitral annular calcium |
|
5 |
10239278 |
1 |
FAM173B |
C |
T |
exonic |
synonymous SNV |
FAM173B:NM_001258388:exon2:c.G207A:p.P69P,FAM173B:NM_001258389:exon2:c.G207A:p.P69P,FAM173B:NM_199133:exon2:c.G207A:p.P69P |
RS2252505 |
Radiation response to therapy
(radiation AUC) |
|
5 |
10254817 |
1 |
CCT5 |
A |
G |
exonic |
synonymous SNV |
CCT5:NM_001306153:exon3:c.A135G:p.G45G,CCT5:NM_001306156:exon3:c.A84G:p.G28G,CCT5:NM_012073:exon3:c.A198G:p.G66G |
RS2578617 |
Gene expression of CCT5 [probe
229068_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Gene expression of CCT5 (probeID ILMN_1706246) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of CCT5 (probeID
ILMN_1706246) in temporal cortex in Alzheimer's disease cases and controls |
|
5 |
10256161 |
1 |
CCT5 |
T |
C |
exonic |
synonymous SNV |
CCT5:NM_001306154:exon3:c.T261C:p.R87R,CCT5:NM_001306155:exon3:c.T147C:p.R49R,CCT5:NM_001306153:exon4:c.T363C:p.R121R,CCT5:NM_001306156:exon4:c.T312C:p.R104R,CCT5:NM_012073:exon4:c.T426C:p.R142R |
RS1042392 |
Total cholesterol:HDL
cholesterol:Microalbuminuria:Gene expression of CCT5 (probeID ILMN_1706246)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
CCT5 (probeID ILMN_1706246) in temporal cortex in Alzheimer's disease cases
and controls |
|
5 |
10680997 |
1 |
DAP |
G |
A |
exonic |
nonsynonymous SNV |
DAP:NM_001291963:exon3:c.C437T:p.S146F |
RS5745297 |
Irritible bowel syndrome:Tardive
dyskinesia:Gene expression of DAP in peripheral blood monocytes:Gene
expression of DAP in blood |
|
5 |
14420027 |
2 |
TRIO |
A |
C |
exonic |
synonymous SNV |
TRIO:NM_007118:exon34:c.A5100C:p.T1700T |
RS30612 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Total cholesterol change with statins:Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Aortic valve calcium |
|
5 |
14741984 |
1 |
ANKH |
T |
C |
exonic |
synonymous SNV |
ANKH:NM_054027:exon8:c.A963G:p.A321A |
|
5 |
16673975 |
2 |
MYO10 |
C |
G |
exonic |
nonsynonymous SNV |
MYO10:NM_012334:exon36:c.G4988C:p.S1663T |
RS25901 |
Triglycerides:HDL cholesterol
change with statins:Cystatin C in serum:Waist hip ratio:Gene expression
change of FAM134B (ENSG00000154153) in dendritic cells after treatment with
Mycobacterium tuberculosis:Diabetic retinopathy in Type 2 diabetes mellitus:Salmonella-induced
pyroptosis |
|
5 |
21975219 |
2 |
CDH12 |
A |
G |
exonic |
synonymous SNV |
CDH12:NM_001317227:exon3:c.T507C:p.V169V,CDH12:NM_001317228:exon4:c.T507C:p.V169V,CDH12:NM_004061:exon6:c.T507C:p.V169V |
|
5 |
21975244 |
2 |
CDH12 |
A |
C |
exonic |
nonsynonymous SNV |
CDH12:NM_001317227:exon3:c.T482G:p.L161W,CDH12:NM_001317228:exon4:c.T482G:p.L161W,CDH12:NM_004061:exon6:c.T482G:p.L161W |
|
5 |
31423007 |
1 |
DROSHA |
T |
C |
exonic |
synonymous SNV |
DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P |
RS2287584 |
HDL cholesterol:Cystatin C in
serum:Adiponectin levels |
|
5 |
31538692 |
1 |
C5orf22 |
A |
C |
exonic |
nonsynonymous SNV |
C5orf22:NM_018356:exon4:c.A703C:p.T235P |
RS17410000 |
Height:Advanced age-related macular
degeneration |
|
5 |
32403346 |
2 |
ZFR |
C |
T |
exonic |
nonsynonymous SNV |
ZFR:NM_016107:exon8:c.G1381A:p.V461I |
RS4867440 |
Spine bone mineral density
(BMD):3-Aminoisobutyrate concentration:Hypertension (early onset
hypertension):Salmonella-induced pyroptosis |
|
5 |
33989518 |
1 |
AMACR |
C |
T |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K |
RS2278008 |
LDL cholesterol change with
statins:Serum creatinine:Gene expression of AMACR in peripheral blood
monocytes:Total cholesterol:HDL cholesterol:Gene expression of AMACR (probeID
ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases
and controls |
|
5 |
33998883 |
1 |
AMACR |
A |
G |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S |
RS2287939 |
Gene expression of AMACR [probe
209426_s_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Schizophrenia:Simpson-Angus Scale:Serum creatinine:Total
cholesterol:LDL cholesterol:Gene expression of AMACR in CD4+
lymphocytes:Birth weight:Gene expression of AMACR (probeID ILMN_1759670) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
AMACR (probeID ILMN_1759670) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of SLC45A2 (ENSG00000164175) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression of AMACR (probeID
ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of AMACR (probeID ILMN_1759670) in cerebellum in non-Alzheimer's
disease samples:Gene expression of AMACR (probeID ILMN_2367172) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of AMACR
(probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases:Gene
expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR
(probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases |
|
5 |
34004707 |
1 |
AMACR |
C |
T |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D |
RS10941112 |
Gene expression of AMACR [probe
209424_s_at] in lymphoblastoid cell lines:Gene expression of AMACR [probe
209426_s_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Schizophrenia:Differential exon level
expression of AMACR [probe 2852748] in brain cortex:Differential exon level
expression of AMACR [probe 2852747] in brain cortex:Differential exon level
expression of AMACR [probe 2852757] in brain cortex:Gene expression of AMACR
[probe 2852742] in brain cortex:Gene expression of AMACR in T cells:Gene
expression of AMACR in Fibroblasts:Gene expression of AMACR in CD4+
lymphocytes:Height:Gene expression of C1QTNF3 in blood:Gene expression of
AMACR (probeID ILMN_1759670) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of AMACR (probeID ILMN_2367172) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of AMACR (probeID
ILMN_1759670) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of AMACR (probeID ILMN_2367172) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_1759670) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
AMACR (probeID ILMN_1759670) in cerebellum in non-Alzheimer's disease
samples:Paternal transmission distortion:Gene expression of AMACR (probeID
ILMN_2367172) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of AMACR (probeID ILMN_2367172) in cerebellum in non-Alzheimer's
disease samples:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID
ILMN_1759670) in temporal cortex in Alzheimer's disease cases:Gene expression
of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's disease
cases:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of AMACR (probeID
ILMN_2367172) in temporal cortex in Alzheimer's disease cases:Gene expression
of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease
cases:Parkinson's disease |
|
5 |
34008100 |
1 |
AMACR |
C |
T |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M |
RS3195676 |
Gene expression of C1QTNF3 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height:Gene expression of AMACR
(probeID ILMN_2367172) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in
cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene
expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's
disease cases and controls |
|
5 |
34823339 |
1 |
RAI14 |
A |
C |
exonic |
synonymous SNV |
RAI14:NM_001145522:exon14:c.A1305C:p.A435A,RAI14:NM_001145523:exon14:c.A1368C:p.A456A,RAI14:NM_001145520:exon15:c.A1392C:p.A464A,RAI14:NM_015577:exon15:c.A1392C:p.A464A,RAI14:NM_001145521:exon16:c.A1392C:p.A464A,RAI14:NM_001145525:exon17:c.A1401C:p.A467A |
|
5 |
34824555 |
1 |
RAI14 |
G |
T |
exonic |
nonsynonymous SNV |
RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S |
RS1048944 |
Rheumatoid arthritis |
|
5 |
36143392 |
2 |
LMBRD2 |
C |
T |
exonic |
synonymous SNV |
LMBRD2:NM_001007527:exon2:c.G60A:p.L20L |
RS267766 |
HOMA-IR:Fasting insulin:HOMA-B:Body
mass index (BMI):3-Aminoisobutyrate concentration:Comorbid depressive
syndrome and alcohol dependence:Primary rhegmatogenous retinal
detachment:Paternal transmission distortion:Transmission distortion |
|
5 |
37364443 |
2 |
NUP155 |
C |
T |
exonic |
synonymous SNV |
NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L |
|
5 |
38933303 |
1 |
OSMR |
A |
G |
exonic |
synonymous SNV |
OSMR:NM_001323505:exon18:c.A2697G:p.K899K,OSMR:NM_001323506:exon18:c.A2700G:p.K900K,OSMR:NM_003999:exon18:c.A2697G:p.K899K |
|
5 |
38950776 |
2 |
RICTOR |
G |
A |
exonic |
synonymous SNV |
RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S |
RS2115949 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
5 |
43509348 |
2 |
C5orf34 |
T |
A |
exonic |
nonsynonymous SNV |
C5orf34:NM_198566:exon2:c.A94T:p.T32S |
|
5 |
52096889 |
1 |
PELO |
C |
A |
exonic |
nonsynonymous SNV |
PELO:NM_015946:exon2:c.C661A:p.L221M |
RS1499280 |
Schizophrenia:Gene expression of
PELO in liver:Mitral annular calcium:Aortic valve calcium |
|
5 |
52157374 |
2 |
ITGA1 |
T |
C |
exonic |
synonymous SNV |
ITGA1:NM_181501:exon3:c.T276C:p.C92C |
RS2447867 |
Fasting blood glucose:Serum
creatinine:Parkinson's disease:Primary rhegmatogenous retinal detachment |
|
5 |
52347369 |
2 |
ITGA2 |
C |
T |
exonic |
synonymous SNV |
ITGA2:NM_002203:exon7:c.C759T:p.F253F |
RS1126643 |
Platelet aggregation in response to
collagen |
|
5 |
52351413 |
2 |
ITGA2 |
G |
A |
exonic |
synonymous SNV |
ITGA2:NM_002203:exon8:c.G825A:p.T275T |
|
5 |
52379277 |
2 |
ITGA2 |
C |
T |
exonic |
synonymous SNV |
ITGA2:NM_002203:exon27:c.C3252T:p.F1084F |
RS2303122 |
Total cholesterol:Information
processing speed (Speed factor):Resistance to kuru in aged women despite
likely exposure:Maternal transmission distortion:Transmission
distortion:Birth weight |
|
5 |
52856504 |
2 |
NDUFS4 |
G |
C |
exonic |
synonymous SNV |
NDUFS4:NM_001318051:exon1:c.G12C:p.V4V,NDUFS4:NM_002495:exon1:c.G12C:p.V4V |
RS2279516 |
Gene expression of NDUFS4
[transcript NM_002495, probe A_23_P257198] in liver:College completion |
|
5 |
52942083 |
2 |
NDUFS4 |
A |
C |
exonic |
synonymous SNV |
NDUFS4:NM_001318051:exon3:c.A198C:p.G66G,NDUFS4:NM_002495:exon3:c.A198C:p.G66G |
RS31304 |
Neuroticism:Fasting blood
glucose:Triglycerides change with statins:Diabetic retinopathy in Type 2
diabetes mellitus:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
5 |
52942197 |
2 |
NDUFS4 |
A |
G |
exonic |
synonymous SNV |
NDUFS4:NM_001318051:exon3:c.A312G:p.R104R,NDUFS4:NM_002495:exon3:c.A312G:p.R104R |
RS31303 |
Differential exon level expression
of NDUFS4 [probe 2809437] in peripheral blood mononuclear cells:Fasting
insulin:Triglycerides:LDL cholesterol:Total cholesterol:Waist hip
ratio:College completion |
|
5 |
53815240 |
1 |
SNX18 |
G |
C |
exonic |
synonymous SNV |
SNX18:NM_001102575:exon1:c.G1458C:p.S486S,SNX18:NM_001145427:exon1:c.G1458C:p.S486S,SNX18:NM_052870:exon1:c.G1458C:p.S486S |
|
5 |
54960609 |
2 |
SLC38A9 |
A |
G |
exonic |
synonymous SNV |
SLC38A9:NM_001258286:exon6:c.T420C:p.L140L,SLC38A9:NM_001258287:exon7:c.T528C:p.L176L,SLC38A9:NM_001282429:exon7:c.T237C:p.L79L,SLC38A9:NM_001349385:exon8:c.T609C:p.L203L,SLC38A9:NM_173514:exon8:c.T609C:p.L203L,SLC38A9:NM_001349384:exon9:c.T609C:p.L203L,SLC38A9:NM_001349382:exon10:c.T609C:p.L203L,SLC38A9:NM_001349383:exon10:c.T609C:p.L203L |
RS4865614 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Height:Waist hip ratio:Aortic
valve calcium |
|
5 |
56178217 |
1 |
MAP3K1 |
A |
C |
exonic |
synonymous SNV |
MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R |
RS832583 |
Methylation levels at
chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal
cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe
cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18
coord, probe cg20203395] in Temporal cortex:Methylation levels at
chr5:56240632-56240682 [hg18 coord, probe cg20203395] in
Cerebellum:Height:Bipolar disorder:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C5orf35 in normal prepouch ileum:Gene expression of C5orf35
(probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and
controls |
|
5 |
56209735 |
1 |
SETD9 |
A |
G |
exonic |
nonsynonymous SNV |
SETD9:NM_001171990:exon4:c.A625G:p.K209E,SETD9:NM_001323018:exon4:c.A547G:p.K183E,SETD9:NM_001323019:exon4:c.A625G:p.K209E,SETD9:NM_001323020:exon4:c.A547G:p.K183E,SETD9:NM_001323022:exon4:c.A169G:p.K57E,SETD9:NM_153706:exon4:c.A625G:p.K209E |
RS40497 |
Irritible bowel
syndrome:Schizophrenia:HDL cholesterol:Gene expression of C5orf35 in CD4+
lymphocytes:Gene expression of C5orf35 in blood:Gene expression of C5orf35
[probeset 238465_at] in sputum:College completion:Gene expression of C5orf35
(probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex
in Alzheimer's disease cases and controls |
|
5 |
56526783 |
2 |
GPBP1 |
G |
A |
exonic |
synonymous SNV |
GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G |
|
5 |
60200665 |
1 |
ERCC8 |
A |
G |
exonic |
synonymous SNV |
ERCC8:NM_000082:exon5:c.T435C:p.Y145Y,ERCC8:NM_001007234:exon5:c.T435C:p.Y145Y,ERCC8:NM_001007233:exon6:c.T261C:p.Y87Y |
|
5 |
60241142 |
1 |
NDUFAF2 |
G |
A |
exonic |
synonymous SNV |
NDUFAF2:NM_174889:exon1:c.G60A:p.K20K |
RS158921 |
Serum creatinine:LDL
cholesterol:Years of education:Parkinson's disease:College completion:Obesity
with early age of onset (age >2) |
|
5 |
61772535 |
2 |
IPO11 |
G |
T |
exonic |
synonymous SNV |
IPO11:NM_001134779:exon9:c.G903T:p.V301V,IPO11:NM_016338:exon9:c.G783T:p.V261V |
RS26635 |
Systolic blood pressure
(SBP):College completion:Years of education |
|
5 |
64267595 |
1 |
CWC27 |
T |
C |
exonic |
synonymous SNV |
CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L |
RS2278351 |
Hoarding traits |
|
5 |
64881936 |
2 |
PPWD1 |
A |
G |
exonic |
synonymous SNV |
PPWD1:NM_001278929:exon9:c.A1257G:p.P419P,PPWD1:NM_001278927:exon10:c.A1305G:p.P435P,PPWD1:NM_015342:exon10:c.A1725G:p.P575P,PPWD1:NM_001278926:exon11:c.A1635G:p.P545P |
RS27141 |
Serum creatinine:Gene expression of
PPWD1 in normal prepouch ileum |
|
5 |
64956563 |
1 |
TRAPPC13 |
A |
G |
exonic |
nonsynonymous SNV |
TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V |
|
5 |
65350374 |
1 |
ERBIN |
A |
G |
exonic |
synonymous SNV |
ERBIN:NM_001006600:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253697:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253698:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253699:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253701:exon21:c.A3216G:p.R1072R,ERBIN:NM_018695:exon21:c.A3228G:p.R1076R |
RS36303 |
Waist hip ratio:PROP taste detection
threshold |
|
5 |
66462069 |
1 |
MAST4 |
A |
G |
exonic |
synonymous SNV |
MAST4:NM_001290227:exon26:c.A6279G:p.T2093T,MAST4:NM_001297651:exon26:c.A6480G:p.T2160T,MAST4:NM_001290226:exon27:c.A6444G:p.T2148T,MAST4:NM_015183:exon28:c.A6495G:p.T2165T,MAST4:NM_001164664:exon29:c.A7062G:p.T2354T |
|
5 |
68417643 |
1 |
SLC30A5 |
C |
T |
exonic |
synonymous SNV |
SLC30A5:NM_022902:exon13:c.C1692T:p.H564H |
RS164578 |
Differential exon level expression
of SLC30A5 [probe 2813395] in peripheral blood mononuclear cells:Differential
exon level expression of SLC30A5 [probe 2813395] in brain cortex:Gene
expression of SLC30A5 in normal prepouch ileum |
|
5 |
68419054 |
1 |
SLC30A5 |
A |
T |
exonic |
synonymous SNV |
SLC30A5:NM_022902:exon14:c.A1800T:p.T600T |
RS164572 |
Triglycerides:HDL cholesterol:Age
at death with kuru exposure:Gene expression of SLC30A5 in normal prepouch
ileum |
|
5 |
68471247 |
1 |
CCNB1 |
G |
A |
exonic |
synonymous SNV |
CCNB1:NM_031966:exon7:c.G966A:p.L322L |
RS1128761 |
Gene expression of TBRG1 [probe
GI_14249499-S] in brain cortex with Alzheimer's interaction:Gene expression
of MRPS36 in peripheral blood monocytes:Advanced age-related macular
degeneration (geographic atrophy):Acute lung injury following major trauma |
|
5 |
68616331 |
1 |
CCDC125 |
C |
T |
exonic |
nonsynonymous SNV |
CCDC125:NM_001297696:exon2:c.G37A:p.V13M,CCDC125:NM_176816:exon2:c.G37A:p.V13M |
RS10471774 |
Premature ovarian failure:Plasma
aldosterone concentration:Gene expression of CCDC125 in blood:Gene expression
of CCDC125 [probeset 1553542_at] in sputum:Sporadic Creutzfeldt-Jakob
disease:Gene expression of TAF9 (ENSG00000085231) in dendritic cells treated
with Mycobacterium tuberculosis:Hypertension (early onset hypertension) |
|
5 |
68715310 |
1 |
MARVELD2 |
C |
T |
exonic |
nonsynonymous SNV |
MARVELD2:NM_001038603:exon2:c.C98T:p.T33I,MARVELD2:NM_001244734:exon2:c.C98T:p.T33I |
RS1185246 |
Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition):Gene
expression of CCDC125 in blood:Aortic valve calcium |
|
5 |
70751818 |
2 |
BDP1 |
T |
G |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon1:c.T114G:p.D38E |
RS3748043 |
PROP taste detection threshold |
|
5 |
70806711 |
2 |
BDP1 |
C |
G |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon17:c.C3792G:p.I1264M |
RS715747 |
Triglycerides:Triglycerides |
|
5 |
70840233 |
1 |
BDP1 |
C |
T |
exonic |
synonymous SNV |
BDP1:NM_018429:exon31:c.C6462T:p.L2154L |
RS182190 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
5 |
70858194 |
1 |
BDP1 |
C |
T |
exonic |
synonymous SNV |
BDP1:NM_018429:exon38:c.C7590T:p.R2530R |
|
5 |
70945075 |
2 |
MCCC2 |
A |
G |
exonic |
synonymous SNV |
MCCC2:NM_022132:exon14:c.A1368G:p.A456A |
|
5 |
71490962 |
2 |
MAP1B |
A |
G |
exonic |
nonsynonymous SNV |
MAP1B:NM_001324255:exon4:c.A1402G:p.I468V,MAP1B:NM_005909:exon5:c.A1780G:p.I594V |
RS1866374 |
2 hour glucose:Serum creatinine:Body
mass index (BMI):Refractive error |
|
5 |
72184098 |
1 |
TNPO1 |
C |
T |
exonic |
synonymous SNV |
TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D |
RS17606 |
LDL cholesterol:HOMA-B:HOMA-IR:Total
cholesterol:Height:PROP taste detection threshold |
|
5 |
72348272 |
1 |
FCHO2 |
A |
G |
exonic |
nonsynonymous SNV |
FCHO2:NM_001146032:exon12:c.A1012G:p.M338V,FCHO2:NM_138782:exon13:c.A1111G:p.M371V |
RS185435 |
Rheumatoid arthritis, gender
differentiated:HOMA-B:HOMA-IR:Total cholesterol:Height:Maternal transmission
distortion:Birth weight:Transmission distortion |
|
5 |
72874907 |
1 |
UTP15 |
A |
C |
exonic |
synonymous SNV |
UTP15:NM_001284431:exon10:c.A642C:p.G214G,UTP15:NM_001284430:exon11:c.A1155C:p.G385G,UTP15:NM_032175:exon11:c.A1212C:p.G404G |
RS343122 |
Rheumatoid arthritis, combined
control dataset:LDL cholesterol:Gene expression of UTP15 in peripheral blood
monocytes:Gene expression of ANKRA2 in peripheral blood monocytes |
|
5 |
73144845 |
2 |
ARHGEF28 |
A |
G |
exonic |
synonymous SNV |
ARHGEF28:NM_001244364:exon5:c.A741G:p.S247S,ARHGEF28:NM_001080479:exon13:c.A1680G:p.S560S,ARHGEF28:NM_001177693:exon13:c.A1680G:p.S560S |
|
5 |
73163965 |
1 |
ARHGEF28 |
C |
A |
exonic |
nonsynonymous SNV |
ARHGEF28:NM_001244364:exon12:c.C1399A:p.H467N,ARHGEF28:NM_001080479:exon20:c.C2338A:p.H780N,ARHGEF28:NM_001177693:exon20:c.C2338A:p.H780N |
RS2973558 |
Asthma:Waist hip ratio |
|
5 |
73179672 |
1 |
ARHGEF28 |
C |
T |
exonic |
synonymous SNV |
ARHGEF28:NM_001244364:exon16:c.C2079T:p.Y693Y,ARHGEF28:NM_001080479:exon24:c.C3018T:p.Y1006Y,ARHGEF28:NM_001177693:exon24:c.C3018T:p.Y1006Y |
RS3749645 |
Spine bone mineral density
(BMD):Arthritis including non-Rheumatoid:HDL cholesterol:Years of
education:College completion |
|
5 |
73207372 |
1 |
ARHGEF28 |
T |
A |
exonic |
nonsynonymous SNV |
ARHGEF28:NM_001244364:exon27:c.T3981A:p.H1327Q,ARHGEF28:NM_001080479:exon35:c.T4920A:p.H1640Q,ARHGEF28:NM_001177693:exon35:c.T4920A:p.H1640Q |
RS1478453 |
LDL cholesterol:Barnes Akathisia
Rating Scale:Simpson-Angus Scale |
|
5 |
73930751 |
2 |
ENC1 |
C |
T |
exonic |
synonymous SNV |
ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K |
|
5 |
73931246 |
2 |
ENC1 |
T |
C |
exonic |
synonymous SNV |
ENC1:NM_001256576:exon2:c.A846G:p.S282S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_001256575:exon3:c.A1065G:p.S355S |
|
5 |
73981270 |
2 |
HEXB |
T |
C |
exonic |
nonsynonymous SNV |
HEXB:NM_000521:exon1:c.T185C:p.L62S |
|
5 |
75923285 |
2 |
IQGAP2 |
C |
T |
exonic |
synonymous SNV |
IQGAP2:NM_001285461:exon3:c.C231T:p.A77A,IQGAP2:NM_001285462:exon3:c.C231T:p.A77A,IQGAP2:NM_001285460:exon13:c.C1422T:p.A474A,IQGAP2:NM_006633:exon14:c.C1572T:p.A524A |
RS2431351 |
Cystatin C in serum:LDL cholesterol |
|
5 |
75923294 |
2 |
IQGAP2 |
T |
G |
exonic |
nonsynonymous SNV |
IQGAP2:NM_001285461:exon3:c.T240G:p.D80E,IQGAP2:NM_001285462:exon3:c.T240G:p.D80E,IQGAP2:NM_001285460:exon13:c.T1431G:p.D477E,IQGAP2:NM_006633:exon14:c.T1581G:p.D527E |
RS2431352 |
Fasting insulin:Total
cholesterol:Triglycerides change with statins:Waist hip ratio |
|
5 |
75932869 |
2 |
IQGAP2 |
C |
T |
exonic |
synonymous SNV |
IQGAP2:NM_001285461:exon5:c.C450T:p.D150D,IQGAP2:NM_001285462:exon5:c.C450T:p.D150D,IQGAP2:NM_001285460:exon15:c.C1641T:p.D547D,IQGAP2:NM_006633:exon16:c.C1791T:p.D597D |
RS2910819 |
Cystatin C in serum:Aortic valve
calcium:Gene expression of F2R in normal prepouch ileum |
|
5 |
75932965 |
2 |
IQGAP2 |
G |
C |
exonic |
nonsynonymous SNV |
IQGAP2:NM_001285461:exon5:c.G546C:p.L182F,IQGAP2:NM_001285462:exon5:c.G546C:p.L182F,IQGAP2:NM_001285460:exon15:c.G1737C:p.L579F,IQGAP2:NM_006633:exon16:c.G1887C:p.L629F |
RS2455230 |
Cystatin C in serum:LDL
cholesterol:Aortic valve calcium |
|
5 |
75960865 |
2 |
IQGAP2 |
T |
C |
exonic |
synonymous SNV |
IQGAP2:NM_001285461:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285462:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285460:exon21:c.T2394C:p.H798H,IQGAP2:NM_006633:exon22:c.T2544C:p.H848H |
RS253093 |
Microalbuminuria |
|
5 |
76128521 |
2 |
F2RL1 |
G |
A |
exonic |
nonsynonymous SNV |
F2RL1:NM_005242:exon2:c.G89A:p.S30N |
|
5 |
76129053 |
2 |
F2RL1 |
T |
C |
exonic |
synonymous SNV |
F2RL1:NM_005242:exon2:c.T621C:p.I207I |
RS631465 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of PEAR1 in
peripheral blood monocytes:Gene expression of SERPINE2 in peripheral blood
monocytes:Triglycerides |
|
5 |
76359024 |
1 |
AGGF1 |
C |
A |
exonic |
nonsynonymous SNV |
AGGF1:NM_018046:exon14:c.C2092A:p.P698T |
|
5 |
77425028 |
2 |
AP3B1 |
A |
T |
exonic |
nonsynonymous SNV |
AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E |
RS6453373 |
HDL cholesterol:HDL cholesterol
change with statins |
|
5 |
77684726 |
1 |
SCAMP1 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS3922654 |
Fasting
insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Triglycerides:Body mass index
(BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Bipolar
disorder:College completion:Gene expression change of SCAMP1
(ENSG00000085365) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of SCAMP1 (ENSG00000085365) in dendritic cells
treated with Mycobacterium tuberculosis |
|
5 |
77784738 |
1 |
LHFPL2 |
A |
G |
exonic |
synonymous SNV |
LHFPL2:NM_005779:exon5:c.T669C:p.N223N |
RS2241566 |
Fasting
insulin:HOMA-B:HOMA-IR:Triglycerides:HDL cholesterol:Bipolar disorder |
|
5 |
78135201 |
1 |
ARSB |
C |
T |
exonic |
synonymous SNV |
ARSB:NM_000046:exon6:c.G1191A:p.P397P,ARSB:NM_198709:exon7:c.G1191A:p.P397P |
RS25413 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Differential exon level expression of
ARSB [probe 2863996] in peripheral blood mononuclear cells:Alzheimer's
disease (Left hippocampal grey matter density):Gene expression of ARSB in
peripheral blood monocytes:Partial epilepsy:Late onset Alzheimer's
disease:Gene expression of ARSB in blood:Paternal transmission distortion |
|
5 |
78181423 |
1 |
ARSB |
C |
T |
exonic |
nonsynonymous SNV |
ARSB:NM_000046:exon5:c.G1126A:p.V376M,ARSB:NM_198709:exon6:c.G1126A:p.V376M |
RS1071598 |
Waist hip ratio:PROP taste detection
threshold:Refractive error |
|
5 |
78324352 |
2 |
DMGDH |
A |
G |
exonic |
nonsynonymous SNV |
DMGDH:NM_013391:exon12:c.T1936C:p.S646P |
RS1805074 |
Methylation levels at
chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Cerebellum:Partial
epilepsy:Height:College completion:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
5 |
78326750 |
2 |
DMGDH |
G |
C |
exonic |
nonsynonymous SNV |
DMGDH:NM_013391:exon10:c.C1589G:p.A530G |
RS1805073 |
Methylation levels at
chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Cerebellum:Total
cholesterol:LDL cholesterol:Height:Diabetic retinopathy in Type 2 diabetes
mellitus:Birth weight:College completion |
|
5 |
78328560 |
1 |
DMGDH |
G |
A |
exonic |
synonymous SNV |
DMGDH:NM_013391:exon9:c.C1467T:p.G489G |
RS1805072 |
Methylation levels at
chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Frontal
cortex:Methylation levels at chr5:78317805-78317855 [hg18 coord, probe
cg24893837] in Cerebellum:Diabetic retinopathy in Type 2 diabetes
mellitus:Salmonella-induced pyroptosis:Obesity with early age of onset (age
>2):Parkinson's disease |
|
5 |
78573790 |
2 |
JMY |
A |
T |
exonic |
nonsynonymous SNV |
JMY:NM_152405:exon2:c.A1090T:p.M364L |
RS13182512 |
Fasting insulin:HOMA-IR:Total
cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Comorbid
depressive syndrome and alcohol dependence:Refractive error:Years of
education:Diabetic retinopathy in Type 2 diabetes mellitus |
|
5 |
78596044 |
2 |
JMY |
T |
C |
exonic |
synonymous SNV |
JMY:NM_152405:exon5:c.T1596C:p.D532D |
RS10514159 |
Alzheimer's disease:2 hour
glucose:Fasting insulin:HOMA-IR:HOMA-B:Total cholesterol:Chronic kidney
disease:Partial epilepsy:HDL cholesterol:Total cholesterol:Sporadic
Creutzfeldt-Jakob disease:Diabetic retinopathy in Type 2 diabetes
mellitus:Refractive error |
|
5 |
78752802 |
1 |
HOMER1 |
T |
C |
exonic |
synonymous SNV |
HOMER1:NM_001277077:exon2:c.A45G:p.Q15Q,HOMER1:NM_001277078:exon2:c.A45G:p.Q15Q,HOMER1:NM_004272:exon2:c.A45G:p.Q15Q |
|
5 |
79733079 |
2 |
ZFYVE16 |
T |
C |
exonic |
nonsynonymous SNV |
ZFYVE16:NM_001284237:exon3:c.T575C:p.I192T,ZFYVE16:NM_014733:exon3:c.T575C:p.I192T,ZFYVE16:NM_001105251:exon4:c.T575C:p.I192T,ZFYVE16:NM_001284236:exon4:c.T575C:p.I192T,ZFYVE16:NM_001349434:exon4:c.T575C:p.I192T |
RS2544600 |
Stabilized warfarin dose:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:Lp-PLA2 activity:Sporadic
Creutzfeldt-Jakob disease:Parkinson's disease:Tetrology of fallot:Refractive
error |
|
5 |
79734297 |
2 |
ZFYVE16 |
T |
C |
exonic |
nonsynonymous SNV |
ZFYVE16:NM_001284237:exon3:c.T1793C:p.I598T,ZFYVE16:NM_014733:exon3:c.T1793C:p.I598T,ZFYVE16:NM_001105251:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001284236:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001349434:exon4:c.T1793C:p.I598T |
RS259028 |
Premature ovarian failure:Total
cholesterol:HDL cholesterol change with statins:Gene expression of ZFYVE16
[transcript NM_001105251, probe A_24_P286054] in liver:Years of
education:Parkinson's disease |
|
5 |
79734409 |
2 |
ZFYVE16 |
G |
A |
exonic |
synonymous SNV |
ZFYVE16:NM_001284237:exon3:c.G1905A:p.S635S,ZFYVE16:NM_014733:exon3:c.G1905A:p.S635S,ZFYVE16:NM_001105251:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001284236:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001349434:exon4:c.G1905A:p.S635S |
RS259029 |
HDL cholesterol change with
statins:Total cholesterol:PROP taste detection threshold:Parkinson's disease |
|
5 |
79745469 |
2 |
ZFYVE16 |
A |
G |
exonic |
nonsynonymous SNV |
ZFYVE16:NM_014733:exon8:c.A3163G:p.S1055G,ZFYVE16:NM_001105251:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001284236:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001349434:exon9:c.A3163G:p.S1055G |
RS249038 |
Premature ovarian failure:Total
cholesterol:HDL cholesterol change with statins:Years of
education:Parkinson's disease |
|
5 |
80149981 |
1 |
MSH3 |
A |
G |
exonic |
nonsynonymous SNV |
MSH3:NM_002439:exon21:c.A2846G:p.Q949R |
RS184967 |
Arthritis including
non-Rheumatoid:Schizophrenia:HDL cholesterol:Total cholesterol:Serum
creatinine |
|
5 |
80604430 |
1 |
ZCCHC9 |
C |
T |
exonic |
synonymous SNV |
ZCCHC9:NM_001131035:exon3:c.C435T:p.A145A,ZCCHC9:NM_001131036:exon3:c.C435T:p.A145A,ZCCHC9:NM_032280:exon3:c.C435T:p.A145A |
RS1055383 |
HDL cholesterol:Triglycerides:2
hour glucose:Waist hip ratio:Diabetic retinopathy in Type 2 diabetes mellitus |
|
5 |
82648977 |
1 |
XRCC4 |
T |
G |
exonic |
synonymous SNV |
XRCC4:NM_001318012:exon8:c.T927G:p.S309S,XRCC4:NM_003401:exon8:c.T921G:p.S307S,XRCC4:NM_022406:exon8:c.T927G:p.S309S,XRCC4:NM_022550:exon8:c.T921G:p.S307S |
RS1056503 |
HDL cholesterol:Maternal
transmission distortion |
|
5 |
86564564 |
1 |
RASA1 |
C |
T |
exonic |
nonsynonymous SNV |
RASA1:NM_002890:exon1:c.C296T:p.A99V |
|
5 |
87498849 |
2 |
TMEM161B |
G |
A |
exonic |
synonymous SNV |
TMEM161B:NM_001349405:exon7:c.C298T:p.L100L,TMEM161B:NM_001349402:exon8:c.C298T:p.L100L,TMEM161B:NM_001349403:exon8:c.C298T:p.L100L,TMEM161B:NM_001289007:exon9:c.C844T:p.L282L,TMEM161B:NM_001349400:exon9:c.C298T:p.L100L,TMEM161B:NM_001349407:exon9:c.C844T:p.L282L,TMEM161B:NM_153354:exon9:c.C844T:p.L282L,TMEM161B:NM_001289008:exon10:c.C811T:p.L271L |
RS3097146 |
Systolic blood pressure
(SBP):Bipolar disorder:Advanced age-related macular degeneration |
|
5 |
89769728 |
2 |
MBLAC2 |
T |
C |
exonic |
nonsynonymous SNV |
MBLAC2:NM_203406:exon1:c.A382G:p.T128A |
|
5 |
94826655 |
1 |
TTC37 |
C |
A |
exonic |
nonsynonymous SNV |
TTC37:NM_014639:exon37:c.G3888T:p.R1296S |
RS2303650 |
Differential exon level expression
of KIAA0372 [probe 2867695] in brain cortex:Differential exon level
expression of KIAA0372 [probe 2867742] in brain cortex:HDL cholesterol:Years
of education |
|
5 |
94861118 |
1 |
TTC37 |
G |
C |
exonic |
nonsynonymous SNV |
TTC37:NM_014639:exon15:c.C1309G:p.L437V |
RS17084873 |
Biploar disorder (bipolar
schizoaffective disorder):HDL cholesterol:Years of education |
|
5 |
95084131 |
1 |
RHOBTB3 |
G |
A |
exonic |
synonymous SNV |
RHOBTB3:NM_014899:exon4:c.G510A:p.A170A |
RS34896 |
Spine bone mineral density
(BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of
RHOBTB3 in blood:Systolic blood pressure (SBP):Age at death with kuru
exposure:College completion:Years of education |
|
5 |
95091194 |
1 |
RHOBTB3 |
C |
T |
exonic |
synonymous SNV |
RHOBTB3:NM_014899:exon6:c.C777T:p.Y259Y |
RS34898 |
Fasting blood
glucose:Triglycerides:Years of education:Acute lung injury following major
trauma |
|
5 |
95091201 |
1 |
RHOBTB3 |
A |
G |
exonic |
nonsynonymous SNV |
RHOBTB3:NM_014899:exon6:c.A784G:p.N262D |
RS34899 |
Spine bone mineral density
(BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of
RHOBTB3 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome
and alcohol dependence:Nausea in response to topiramate treatment in healthy
volunteers:Age at death with kuru exposure:Years of education:College
completion:Acute lung injury following major trauma |
|
5 |
95234350 |
1 |
ELL2 |
A |
G |
exonic |
synonymous SNV |
ELL2:NM_012081:exon8:c.T1119C:p.P373P |
RS3777204 |
2 hour glucose:IGP61:IGP65 |
|
5 |
96086334 |
1 |
CAST |
G |
C |
exonic |
nonsynonymous SNV |
CAST:NM_001042446:exon15:c.G1061C:p.C354S,CAST:NM_001284213:exon15:c.G1007C:p.C336S,CAST:NM_001330630:exon15:c.G1061C:p.C354S,CAST:NM_001042444:exon16:c.G1100C:p.C367S,CAST:NM_001042445:exon16:c.G1118C:p.C373S,CAST:NM_001284212:exon16:c.G1100C:p.C367S,CAST:NM_001330634:exon16:c.G1127C:p.C376S,CAST:NM_001330631:exon17:c.G1184C:p.C395S,CAST:NM_001330632:exon17:c.G1157C:p.C386S,CAST:NM_001330633:exon17:c.G1166C:p.C389S,CAST:NM_173060:exon17:c.G1157C:p.C386S,CAST:NM_001042440:exon18:c.G1349C:p.C450S,CAST:NM_001042443:exon18:c.G1223C:p.C408S,CAST:NM_001330626:exon18:c.G1376C:p.C459S,CAST:NM_001330627:exon18:c.G1349C:p.C450S,CAST:NM_001330628:exon18:c.G1304C:p.C435S,CAST:NM_001042441:exon19:c.G1415C:p.C472S,CAST:NM_001190442:exon19:c.G1184C:p.C395S,CAST:NM_001330629:exon19:c.G1388C:p.C463S,CAST:NM_001042442:exon20:c.G1406C:p.C469S,CAST:NM_001750:exon20:c.G1472C:p.C491S |
RS754615 |
Differential splicing of ARTS-1
[probeset 2868133] in lymphoblastoid cell lines:Parkinson's disease:Gene
expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ERAP1 (probeID ILMN_2336220) in
temporal cortex in Alzheimer's disease cases and controls:Birth weight |
|
5 |
96118852 |
2 |
ERAP1 |
G |
C |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon15:c.C2188G:p.Q730E,ERAP1:NM_001198541:exon15:c.C2188G:p.Q730E,ERAP1:NM_001349244:exon15:c.C2188G:p.Q730E,ERAP1:NM_016442:exon15:c.C2188G:p.Q730E |
RS27044 |
HOMA-B:Body mass index (BMI):Gene
expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's
disease cases and controls:Birth weight:Serum metabolite (mass spec peak:
616.7 m/z):Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex
in Alzheimer's disease cases and controls:Serum metabolite (mass spec peak:
666.3 m/z):Serum metabolite (mass spec peak: 489.2 m/z) |
|
5 |
96118866 |
1 |
ERAP1 |
C |
T |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon15:c.G2174A:p.R725Q,ERAP1:NM_001198541:exon15:c.G2174A:p.R725Q,ERAP1:NM_001349244:exon15:c.G2174A:p.R725Q,ERAP1:NM_016442:exon15:c.G2174A:p.R725Q |
RS17482078 |
Diastolic blood pressure (DBP):Gene
expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's
disease cases and controls:College completion:Behcet's disease with and
without uveitis:Parkinson's disease:Behcet's disease:Gene expression of ERAP1
(probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and
controls |
|
5 |
96121524 |
2 |
ERAP1 |
C |
T |
exonic |
synonymous SNV |
ERAP1:NM_001040458:exon13:c.G1911A:p.A637A,ERAP1:NM_001198541:exon13:c.G1911A:p.A637A,ERAP1:NM_001349244:exon13:c.G1911A:p.A637A,ERAP1:NM_016442:exon13:c.G1911A:p.A637A |
RS469783 |
Gene expression of ERAP2 [probe
1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe
227462_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe
235104_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at]
in lymphoblastoid cell lines:Gene expression of ERAP2 [probe 219759_at] in
lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral
density (BMD):Differential exon level expression of ERAP1 [probe 2868155] in
peripheral blood mononuclear cells:Gene expression of ERAP1 [probe 2868131]
in peripheral blood mononuclear cells:Gene expression of ERAP2 [probe
2821347] in peripheral blood mononuclear cells:Differential exon level
expression of ERAP2 [probe 2821402] in peripheral blood mononuclear
cells:Differential exon level expression of ERAP2 [probe 2821389] in
peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868156] in peripheral blood mononuclear cells:Differential exon
level expression of ERAP2 [probe 2821400] in peripheral blood mononuclear
cells:Differential exon level expression of ERAP1 [probe 2868168] in
peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868160] in peripheral blood mononuclear cells:Differential exon
level expression of ERAP1 [probe 2868152] in peripheral blood mononuclear
cells:Differential exon level expression of ERAP1 [probe 2868154] in
peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868173] in peripheral blood mononuclear cells:Fasting
insulin:HOMA-IR:HOMA-B:Severe diabetic retinopathy:Body mass index
(BMI):Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Gene
expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's
disease cases and controls:Obesity with early age of onset (age >2):Gene
expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's
disease cases and controls |
|
5 |
96122210 |
1 |
ERAP1 |
C |
T |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon12:c.G1723A:p.D575N,ERAP1:NM_001198541:exon12:c.G1723A:p.D575N,ERAP1:NM_001349244:exon12:c.G1723A:p.D575N,ERAP1:NM_016442:exon12:c.G1723A:p.D575N |
RS10050860 |
Gene expression of ERAP1 [probe
214012_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:Differential exon level expression
of ERAP1 [probe 2868144] in peripheral blood mononuclear cells:Differential
exon level expression of ERAP1 [probe 2868145] in peripheral blood
mononuclear cells:Differential exon level expression of ERAP1 [probe 2868133]
in peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868142] in peripheral blood mononuclear cells:Differential exon
level expression of ERAP1 [probe 2868161] in peripheral blood mononuclear
cells:Gene expression of ERAP1 in Lymphoblastoid cell lines:Gene expression
of ERAP1 in T cells:Gene expression of ERAP1 in peripheral blood
monocytes:Gene expression of ARTS-1 in CD4+ lymphocytes:Ankylosing
spondylitis:Ankylosing spondylitis (HLA-B27 positive):Gene expression of CAST
in blood:Gene expression of LRAP in blood:Gene expression of ARTS-1///CAST in
blood:Gene expression of ERAP1 [probeset 210385_s_at] in sputum:Gene
expression of ERAP1 [probeset 214012_at] in sputum:Variant Creutzfeldt-Jakob
disease:College completion:Gene expression of ERAP1 (probeID ILMN_2336220) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of ERAP1
(probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and
controls |
|
5 |
96124330 |
2 |
ERAP1 |
T |
C |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon11:c.A1583G:p.K528R,ERAP1:NM_001198541:exon11:c.A1583G:p.K528R,ERAP1:NM_001349244:exon11:c.A1583G:p.K528R,ERAP1:NM_016442:exon11:c.A1583G:p.K528R |
RS30187 |
Gene expression of ERAP2 [probe
1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
214012_at] in lymphoblastoid cell lines:Differential exon level expression of
ERAP1 [probe 2868154] in peripheral blood mononuclear cells:Differential exon
level expression of ERAP1 [probe 2868145] in peripheral blood mononuclear
cells:Differential exon level expression of ERAP1 [probe 2868156] in
peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868152] in peripheral blood mononuclear cells:Gene expression
of ERAP1 [probe 2868131] in peripheral blood mononuclear cells:Differential
exon level expression of ARTS1 in brain cortex:Ankylosing
spondylitis:HOMA-B:Fasting insulin:LDL cholesterol:Gene expression of ARTS-1
in CD4+ lymphocytes:Height:Body mass index (BMI):Psoriasis:Ankylosing
spondylitis:Ankylosing spondylitis (HLA-B27 positive):Gene expression of
LNPEP in blood:Gene expression of CAST in blood:Gene expression of LRAP in
blood:Diastolic blood pressure (DBP):Gene expression of ERAP1 [probeset
209788_s_at] in sputum:Ankylosing spondylitis:Variant Creutzfeldt-Jakob
disease:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in
non-Alzheimer's disease samples:Gene expression of ERAP1 (probeID
ILMN_2336220) in temporal cortex in non-Alzheimer's disease samples:Serum
metabolite (mass spec peak: 616.7 m/z):Gene expression of ERAP1 in normal
prepouch ileum:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal
cortex in Progressive Supranuclear Palsy cases:Serum metabolite (mass spec
peak: 666.3 m/z):Gene expression of ERAP1 (probeID ILMN_2336220) in temporal
cortex in Alzheimer's disease cases:Gene expression of ERAP1 (probeID
ILMN_1752145) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID
ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Progressive
Supranuclear Palsy cases:Years of education:Gene expression of ERAP1 (probeID
ILMN_2336220) in cerebellum in Alzheimer's disease cases:Gene expression of
ERAP1 (probeID ILMN_1752145) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ERAP1 (probeID ILMN_1752145) in temporal cortex
in non-Alzheimer's disease samples:Gene expression of ERAP2 in normal
prepouch ileum:Birth weight:Serum metabolite (mass spec peak: 489.2 m/z) |
|
5 |
96126308 |
2 |
ERAP1 |
A |
G |
exonic |
synonymous SNV |
ERAP1:NM_001040458:exon9:c.T1359C:p.S453S,ERAP1:NM_001198541:exon9:c.T1359C:p.S453S,ERAP1:NM_001349244:exon9:c.T1359C:p.S453S,ERAP1:NM_016442:exon9:c.T1359C:p.S453S |
RS27529 |
Gene expression of ERAP1 [probe
214012_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe
1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:PC aa C40:6:PC aa C38:0 (PC ae C40:7):PC
aa C38:3:PC aa C38:6:PC aa C38:2:PC aa C36:2:PC ae C38:6:PC ae C40:0 (PC aa
C40:7):PC aa C40:5:PC aa C36:3:Barnes Akathisia Rating Scale:HOMA-B:Fasting
insulin:LDL cholesterol:Gene expression of ERAP1 in peripheral blood
monocytes:Gene expression of ERAP2 in peripheral blood monocytes:Height:Body
mass index (BMI):Diastolic blood pressure (DBP):Birth weight:Gene expression
of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease
cases and controls:Years of education:Serum unknown:Gene expression of ERAP2
(probeID ILMN_1743145) in whole blood:Serum metabolite (mass spec peak: 616.7
m/z):Serum metabolite (mass spec peak: 666.3 m/z):Transmission
distortion:Serum metabolite (mass spec peak: 489.2 m/z):Gene expression of
ERAP2 in normal prepouch ileum:Gene expression of ERAP1 (probeID
ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ERAP1 in normal prepouch ileum |
|
5 |
96129512 |
2 |
ERAP1 |
A |
G |
exonic |
synonymous SNV |
ERAP1:NM_001040458:exon6:c.T1068C:p.A356A,ERAP1:NM_001198541:exon6:c.T1068C:p.A356A,ERAP1:NM_001349244:exon6:c.T1068C:p.A356A,ERAP1:NM_016442:exon6:c.T1068C:p.A356A |
RS27434 |
Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
214012_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene
expression of ERAP1 [probe 2868131] in peripheral blood mononuclear cells:Differential
exon level expression of ERAP1 [probe 2868144] in peripheral blood
mononuclear cells:Differential exon level expression of ERAP1 [probe 2868173]
in peripheral blood mononuclear cells:Differential exon level expression of
ERAP1 [probe 2868144] in brain cortex:Differential exon level expression of
ERAP1 [probe 2868179] in peripheral blood mononuclear cells:Ankylosing
spondylitis:Total cholesterol:Height:Gene expression of LNPEP in blood:Gene
expression of CAST in blood:Gene expression of LRAP in blood:Diastolic blood
pressure (DBP):Gene expression of ERAP1 [probeset 209788_s_at] in
sputum:Comorbid depressive syndrome and alcohol dependence:Ankylosing
spondylitis:Bipolar disorder:Birth weight:Gene expression of ERAP1 (probeID
ILMN_2336220) in temporal cortex in non-Alzheimer's disease samples:College
completion:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex
in Alzheimer's disease cases and controls:Drug-induced liver injury-all DILI
cases with isoniazid-containing drug regimens implicated:Infant head
circumference:Serum metabolite (mass spec peak: 616.7 m/z):Gene expression of
ERAP1 (probeID ILMN_1752145) in temporal cortex in Alzheimer's disease cases
and controls:Years of education:Gene expression of ERAP1 (probeID
ILMN_2336220) in temporal cortex in Alzheimer's disease cases:Gene expression
of ERAP1 in normal prepouch ileum |
|
5 |
96129535 |
1 |
ERAP1 |
T |
C |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon6:c.A1045G:p.M349V,ERAP1:NM_001198541:exon6:c.A1045G:p.M349V,ERAP1:NM_001349244:exon6:c.A1045G:p.M349V,ERAP1:NM_016442:exon6:c.A1045G:p.M349V |
|
5 |
96139250 |
2 |
ERAP1 |
C |
G |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon2:c.G380C:p.R127P,ERAP1:NM_001198541:exon2:c.G380C:p.R127P,ERAP1:NM_001349244:exon2:c.G380C:p.R127P,ERAP1:NM_016442:exon2:c.G380C:p.R127P |
RS26653 |
Gene expression of ERAP1 [probe
214012_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:Barnes Akathisia Rating Scale:Total
cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Systolic blood
pressure (SBP):Coronary artery disease (CAD):Infant head circumference |
|
5 |
96139464 |
1 |
ERAP1 |
C |
T |
exonic |
nonsynonymous SNV |
ERAP1:NM_001040458:exon2:c.G166A:p.E56K,ERAP1:NM_001198541:exon2:c.G166A:p.E56K,ERAP1:NM_001349244:exon2:c.G166A:p.E56K,ERAP1:NM_016442:exon2:c.G166A:p.E56K |
RS3734016 |
Simpson-Angus Scale:Barnes
Akathisia Rating Scale:Abnormal Involuntary Movement Scale:HDL
cholesterol:Infant head circumference |
|
5 |
108516535 |
1 |
FER |
A |
T |
exonic |
synonymous SNV |
FER:NM_001308031:exon9:c.A1029T:p.G343G,FER:NM_001308028:exon16:c.A1611T:p.G537G,FER:NM_005246:exon18:c.A2136T:p.G712G |
|
5 |
108516541 |
1 |
FER |
T |
C |
exonic |
synonymous SNV |
FER:NM_001308031:exon9:c.T1035C:p.Y345Y,FER:NM_001308028:exon16:c.T1617C:p.Y539Y,FER:NM_005246:exon18:c.T2142C:p.Y714Y |
|
5 |
108713970 |
2 |
PJA2 |
C |
T |
exonic |
synonymous SNV |
PJA2:NM_014819:exon4:c.G1218A:p.E406E |
RS10042721 |
Gene expression of PJA2 in normal
prepouch ileum |
|
5 |
108713982 |
2 |
PJA2 |
T |
C |
exonic |
synonymous SNV |
PJA2:NM_014819:exon4:c.A1206G:p.A402A |
|
5 |
108714298 |
2 |
PJA2 |
T |
C |
exonic |
nonsynonymous SNV |
PJA2:NM_014819:exon4:c.A890G:p.Q297R |
RS1045706 |
Height:Body mass index (BMI):Gene
expression of PJA2 in blood:Adiponectin levels:Gene expression of PJA2 in
normal prepouch ileum:Birth weight |
|
5 |
109110537 |
2 |
MAN2A1 |
T |
A |
exonic |
synonymous SNV |
MAN2A1:NM_002372:exon8:c.T1245A:p.R415R |
RS6894260 |
Myocardial infarction (MI) |
|
5 |
109181682 |
2 |
MAN2A1 |
A |
T |
exonic |
synonymous SNV |
MAN2A1:NM_002372:exon18:c.A2817T:p.S939S |
RS3186988 |
Total cholesterol:LDL
cholesterol:Triglycerides change with statins:College completion:Years of
education:Obesity with early age of onset (age >2):Refractive error |
|
5 |
112176756 |
2 |
APC |
T |
A |
exonic |
nonsynonymous SNV |
APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D |
RS459552 |
C10:2 /
C16-OH:C10:2:Height:Radiation response to therapy (radiation AUC):Body mass
index (BMI):PROP taste detection threshold:Advanced age-related macular
degeneration (geographic atrophy) |
|
5 |
112312676 |
2 |
DCP2 |
T |
C |
exonic |
nonsynonymous SNV |
DCP2:NM_001242377:exon1:c.T46C:p.F16L,DCP2:NM_152624:exon1:c.T46C:p.F16L |
|
5 |
112349070 |
1 |
DCP2 |
T |
C |
exonic |
synonymous SNV |
DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A |
RS9326869 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol
dependence:Variant Creutzfeldt-Jakob disease:Birth weight |
|
5 |
112406862 |
1 |
MCC |
G |
A |
exonic |
synonymous SNV |
MCC:NM_002387:exon10:c.C1284T:p.A428A,MCC:NM_001085377:exon12:c.C1854T:p.A618A |
RS2227950 |
Comorbid depressive syndrome and
alcohol dependence:Birth weight |
|
5 |
112899702 |
1 |
YTHDC2 |
A |
G |
exonic |
synonymous SNV |
YTHDC2:NM_001345976:exon18:c.A1689G:p.T563T,YTHDC2:NM_001345975:exon19:c.A2103G:p.T701T,YTHDC2:NM_022828:exon20:c.A2589G:p.T863T |
RS6886628 |
Height |
|
5 |
112917278 |
1 |
YTHDC2 |
T |
G |
exonic |
synonymous SNV |
YTHDC2:NM_001345976:exon23:c.T2619G:p.S873S,YTHDC2:NM_001345975:exon24:c.T3033G:p.S1011S,YTHDC2:NM_022828:exon25:c.T3519G:p.S1173S |
RS11748794 |
Alzheimer's disease with psychotic
symptoms (Alzheimer's disease with psychotic symptoms v.
controls):Alzheimer's disease with psychotic symptoms (Alzheimer's disease
with psychotic symptoms v. Alzheimer's disease without psychotic symptoms) |
|
5 |
115428334 |
1 |
COMMD10 |
G |
T |
exonic |
synonymous SNV |
COMMD10:NM_001308080:exon4:c.G294T:p.T98T,COMMD10:NM_016144:exon4:c.G336T:p.T112T |
|
5 |
122359640 |
1 |
PPIC |
T |
C |
exonic |
nonsynonymous SNV |
PPIC:NM_000943:exon5:c.A569G:p.N190S |
RS451195 |
Eye color:Schizophrenia:Rheumatoid
arthritis:HDL cholesterol:Triglycerides:Advanced age-related macular
degeneration (geographic atrophy) |
|
5 |
122682348 |
1 |
CEP120 |
A |
G |
exonic |
synonymous SNV |
CEP120:NM_001166226:exon20:c.T2748C:p.D916D,CEP120:NM_153223:exon21:c.T2826C:p.D942D |
RS1047438 |
Total cholesterol:HDL
cholesterol:LDL cholesterol:Total cholesterol:Height:Body mass index
(BMI):Microalbuminuria:Infant head circumference:Obesity with early age of
onset (age >2):Years of education:Adiponectin levels:Aortic valve
calcium:Advanced age-related macular degeneration (geographic atrophy) |
|
5 |
128430757 |
2 |
ISOC1 |
T |
C |
exonic |
synonymous SNV |
ISOC1:NM_016048:exon1:c.T298C:p.L100L |
RS1127827 |
Gene expression of ISOC1 in
peripheral blood monocytes:Microalbuminuria:Urinary albumin-to-creatinine
ratio |
|
5 |
130766662 |
2 |
RAPGEF6 |
T |
C |
exonic |
nonsynonymous SNV |
RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R |
RS1291602 |
Gene expression of CDC42SE2 [probe
1552613_s_at] in lymphoblastoid cell lines:Gene expression of probe 229026_at
in lymphoblastoid cell lines:Gene expression of CDC42SE2 [probe 1552612_at]
in lymphoblastoid cell lines:Premature ovarian failure:Total cholesterol:LDL
cholesterol:HDL cholesterol:Triglycerides change with statins:Lp-PLA2
mass:Height:Gene expression of CDC42SE2 in blood:Sporadic Creutzfeldt-Jakob
disease:Parkinson's disease |
|
5 |
131008194 |
2 |
FNIP1 |
T |
C |
exonic |
nonsynonymous SNV |
FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_001346114:exon13:c.A1808G:p.Q603R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R |
RS26008 |
Triglycerides:Simpson-Angus
Scale:Triglycerides:Neuroblastoma (brain cancer):Gene expression of RAPGEF6
in blood:Age at death with kuru exposure:Hypertension (early onset
hypertension):College completion:Advanced age-related macular
degeneration:Parkinson's disease |
|
5 |
132098242 |
2 |
8-Sep |
A |
G |
exonic |
synonymous SNV |
SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N |
|
5 |
132150948 |
2 |
SOWAHA |
T |
G |
exonic |
nonsynonymous SNV |
SOWAHA:NM_175873:exon1:c.T1635G:p.F545L |
|
5 |
132437531 |
1 |
HSPA4 |
C |
T |
exonic |
synonymous SNV |
HSPA4:NM_002154:exon17:c.C2118T:p.I706I |
|
5 |
134076812 |
1 |
CAMLG |
G |
A |
exonic |
nonsynonymous SNV |
CAMLG:NM_001745:exon2:c.G232A:p.V78I |
RS12657663 |
Gene expression of KLHDC4 [probe
221219_s_at] in lymphoblastoid cell lines:Simpson-Angus Scale:Height:Urinary
albumin-to-creatinine ratio:Parkinson's disease:Gene expression of CAMLG
(ENSG00000164615) in dendritic cells:Years of education |
|
5 |
135276314 |
2 |
FBXL21 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS40986 |
Irritible bowel
syndrome:Schizophrenia:HDL cholesterol change with statins:Urinary
albumin-to-creatinine ratio:Infant head circumference:Advanced age-related
macular degeneration (geographic atrophy) |
|
5 |
135276847 |
2 |
FBXL21 |
T |
C |
exonic |
unknown |
UNKNOWN |
RS31547 |
HDL cholesterol change with
statins:Urinary albumin-to-creatinine ratio:Diabetic retinopathy in Type 2
diabetes mellitus:Infant head circumference:Advanced age-related macular
degeneration (geographic atrophy) |
|
5 |
135382989 |
1 |
TGFBI |
G |
C |
exonic |
synonymous SNV |
TGFBI:NM_000358:exon6:c.G651C:p.L217L |
RS1442 |
HOMA-B |
|
5 |
135388663 |
1 |
TGFBI |
A |
G |
exonic |
synonymous SNV |
TGFBI:NM_000358:exon8:c.A981G:p.V327V |
RS1054124 |
HDL cholesterol |
|
5 |
135392426 |
1 |
TGFBI |
T |
C |
exonic |
synonymous SNV |
TGFBI:NM_000358:exon12:c.T1620C:p.F540F |
RS4669 |
Height:Aortic valve
calcium:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
5 |
137347498 |
2 |
FAM13B |
G |
A |
exonic |
synonymous SNV |
FAM13B:NM_001101801:exon4:c.C153T:p.S51S,FAM13B:NM_001101800:exon5:c.C507T:p.S169S,FAM13B:NM_016603:exon5:c.C507T:p.S169S |
|
5 |
137665323 |
2 |
CDC25C |
G |
A |
exonic |
nonsynonymous SNV |
CDC25C:NM_001287582:exon3:c.C208T:p.R70C,CDC25C:NM_001287583:exon3:c.C442T:p.R148C,CDC25C:NM_001318098:exon3:c.C259T:p.R87C,CDC25C:NM_001790:exon3:c.C208T:p.R70C |
RS3734166 |
Irritible bowel
syndrome:Schizophrenia:Triglycerides:Body mass index (BMI):Refractive error |
|
5 |
137708434 |
1 |
KDM3B |
C |
T |
exonic |
synonymous SNV |
KDM3B:NM_016604:exon2:c.C264T:p.I88I |
RS4835678 |
Rheumatoid arthritis, combined
control dataset:Irritible bowel syndrome:Simpson-Angus Scale:HDL
cholesterol:Body mass index (BMI):Aortic valve calcium:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration:fMRI brain tests in schizophrenia |
|
5 |
137717265 |
2 |
KDM3B |
G |
A |
exonic |
nonsynonymous SNV |
KDM3B:NM_016604:exon6:c.G766A:p.A256T |
|
5 |
137754695 |
1 |
KDM3B |
T |
C |
exonic |
synonymous SNV |
KDM3B:NM_016604:exon14:c.T3489C:p.G1163G |
RS7726234 |
Irritible bowel
syndrome:Schizophrenia:Differential exon level expression of REEP2 [probe
2830841] in brain cortex:HDL cholesterol:Asthma:Body mass index (BMI):Late
onset Alzheimer's disease:Aortic valve calcium:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Obsessive-compulsive
disorder (OCD) |
|
5 |
137892170 |
1 |
HSPA9 |
G |
A |
exonic |
synonymous SNV |
HSPA9:NM_004134:exon16:c.C1933T:p.L645L |
RS10117 |
Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Refractive error |
|
5 |
138643395 |
1 |
MATR3 |
A |
G |
exonic |
synonymous SNV |
MATR3:NM_001194955:exon2:c.A291G:p.L97L,MATR3:NM_018834:exon2:c.A291G:p.L97L,MATR3:NM_001194954:exon4:c.A291G:p.L97L,MATR3:NM_199189:exon5:c.A291G:p.L97L |
|
5 |
138713959 |
2 |
SLC23A1 |
A |
C |
exonic |
nonsynonymous SNV |
SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A |
|
5 |
138857919 |
2 |
TMEM173 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM173:NM_001301738:exon5:c.A695G:p.H232R,TMEM173:NM_198282:exon6:c.A695G:p.H232R |
RS1131769 |
Triglycerides change with
statins:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive
syndrome and alcohol dependence:Gene expression of DNAJC18 (ENSG00000170464)
in dendritic cells |
|
5 |
138857925 |
1 |
TMEM173 |
C |
G |
exonic |
nonsynonymous SNV |
TMEM173:NM_001301738:exon5:c.G689C:p.G230A,TMEM173:NM_198282:exon6:c.G689C:p.G230A |
|
5 |
139936760 |
2 |
SRA1 |
G |
T |
exonic |
stopgain |
SRA1:NM_001253764:exon1:c.C278A:p.S93X |
RS250426 |
Schizophrenia:Differential exon
level expression of SRA1 [probe 2878362] in peripheral blood mononuclear
cells:Triglycerides:Height:Gene expression of SRA1///ANKHD1-EIF4EBP3 in
blood:Gene expression of ENST00000261812 in blood:Gene expression of DND1///WDR55
in blood:Gene expression of CD14 in blood:Gene expression of SLC35A4 in
blood:Gene expression of NDUFA2///ENST00000261812 in blood:Aortic valve
calcium |
|
5 |
139936980 |
2 |
SRA1 |
A |
G |
exonic |
nonsynonymous SNV |
SRA1:NM_001253764:exon1:c.T58C:p.C20R |
|
5 |
140021482 |
1 |
TMCO6 |
C |
T |
exonic |
synonymous SNV |
TMCO6:NM_001300980:exon4:c.C342T:p.V114V,TMCO6:NM_018502:exon4:c.C342T:p.V114V |
|
5 |
140023238 |
1 |
TMCO6 |
C |
G |
exonic |
nonsynonymous SNV |
TMCO6:NM_001300982:exon6:c.C176G:p.T59S,TMCO6:NM_001300980:exon8:c.C914G:p.T305S,TMCO6:NM_018502:exon8:c.C896G:p.T299S |
RS17208187 |
Triglycerides:HDL cholesterol
change with statins:Gene expression of TMCO6 in peripheral blood
monocytes:Height:Systolic blood pressure (SBP):Gene expression change of
WDR55 (ENSG00000120314) in dendritic cells after treatment with Mycobacterium
tuberculosis:Obesity with early age of onset (age >2):Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration:Gene expression of IK (ENSG00000113141) in
dendritic cells treated with Mycobacterium tuberculosis |
|
5 |
140048267 |
2 |
WDR55 |
T |
C |
exonic |
nonsynonymous SNV |
WDR55:NM_017706:exon4:c.T451C:p.C151R |
|
5 |
140048544 |
1 |
WDR55 |
C |
T |
exonic |
nonsynonymous SNV |
WDR55:NM_017706:exon5:c.C629T:p.S210F |
RS2286394 |
Triglycerides:HDL cholesterol
change with statins:Gene expression of DND1///WDR55 in blood:Gene expression
of CD14 in blood:Gene expression of HARSL in blood:Gene expression of
SRA1///APBB3 in blood:Gene expression of ZMAT2 in blood:Gene expression of PCDHA2
in blood:Systolic blood pressure (SBP):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
VTRNA1-2 in normal prepouch ileum:Obesity with early age of onset (age
>2):Advanced age-related macular degeneration |
|
5 |
140052271 |
1 |
DND1 |
A |
G |
exonic |
synonymous SNV |
DND1:NM_194249:exon3:c.T363C:p.H121H |
|
5 |
140052916 |
1 |
DND1 |
C |
G |
exonic |
nonsynonymous SNV |
DND1:NM_194249:exon2:c.G82C:p.E28Q |
|
5 |
140476403 |
1 |
PCDHB2 |
G |
A |
exonic |
nonsynonymous SNV |
PCDHB2:NM_018936:exon1:c.G2029A:p.E677K |
|
5 |
141014494 |
1 |
HDAC3 |
T |
C |
exonic |
synonymous SNV |
HDAC3:NM_003883:exon3:c.A165G:p.Q55Q |
RS2530223 |
Differential splicing of HDAC3
[probeset 2878760] in lymphoblastoid cell lines:Bipolar disorder:College
completion:Years of education |
|
5 |
141307833 |
1 |
KIAA0141 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA0141:NM_001142603:exon4:c.T382C:p.F128L,KIAA0141:NM_014773:exon4:c.T382C:p.F128L |
RS10036567 |
Gene expression of Hs.483613 in YRI
lymphoblastoid cell lines:Fasting blood glucose:Lp-PLA2 mass:Obesity with
early age of onset (age >2) |
|
5 |
141309824 |
1 |
KIAA0141 |
G |
A |
exonic |
nonsynonymous SNV |
KIAA0141:NM_001142603:exon7:c.G739A:p.A247T,KIAA0141:NM_014773:exon7:c.G739A:p.A247T |
RS351260 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:Differential exon
level expression of KIAA0141 [probe 2832980] in peripheral blood mononuclear
cells:Differential exon level expression of KIAA0141 [probe 2832980] in brain
cortex:Lp-PLA2 mass:Gene expression of KIAA0141 [probe ILMN_8708] in
osteoblasts treated with BMP2:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Mitral annular calcium:Advanced age-related
macular degeneration (geographic atrophy) |
|
5 |
141318162 |
1 |
KIAA0141 |
G |
A |
exonic |
synonymous SNV |
KIAA0141:NM_001142603:exon12:c.G1386A:p.L462L,KIAA0141:NM_014773:exon12:c.G1386A:p.L462L |
|
5 |
141391532 |
1 |
GNPDA1 |
G |
A |
exonic |
synonymous SNV |
GNPDA1:NM_005471:exon2:c.C69T:p.R23R |
RS164080 |
LDL cholesterol:HDL cholesterol:Gene
expression of RNF14 in blood |
|
5 |
142421415 |
2 |
ARHGAP26 |
T |
G |
exonic |
synonymous SNV |
ARHGAP26:NM_001135608:exon14:c.T1245G:p.G415G,ARHGAP26:NM_001349547:exon14:c.T1137G:p.G379G,ARHGAP26:NM_015071:exon14:c.T1245G:p.G415G |
RS2270068 |
Type 2 diabetes |
|
5 |
145439647 |
2 |
SH3RF2 |
T |
C |
exonic |
nonsynonymous SNV |
SH3RF2:NM_152550:exon9:c.T1774C:p.W592R |
|
5 |
145442203 |
1 |
SH3RF2 |
G |
C |
exonic |
nonsynonymous SNV |
SH3RF2:NM_152550:exon10:c.G2129C:p.G710A |
RS1056149 |
Gene expression of LARS [probe
217810_x_at] in lymphoblastoid cell lines:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Comorbid depressive syndrome and alcohol
dependence:Refractive error:Gene expression of LARS in normal prepouch ileum |
|
5 |
145499996 |
1 |
LARS |
C |
T |
exonic |
nonsynonymous SNV |
LARS:NM_001317964:exon30:c.G3125A:p.R1042K,LARS:NM_001317965:exon30:c.G3101A:p.R1034K,LARS:NM_016460:exon30:c.G3182A:p.R1061K,LARS:NM_020117:exon31:c.G3263A:p.R1088K |
RS10988 |
Gene expression of LARS [probe
217810_x_at] in lymphoblastoid cell lines:Differential exon level expression
of LARS [probe 2879978] in peripheral blood mononuclear cells:Differential
exon level expression of LARS [probe 2879983] in peripheral blood mononuclear
cells:Fasting blood glucose:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Microalbuminuria:Gene expression of LARS in
blood:Gene expression of LARS in normal prepouch ileum:Obesity with early age
of onset (age >2):Hypertension (early onset hypertension):Years of
education:Gene expression of PLAC8L1 in normal prepouch ileum |
|
5 |
145508340 |
1 |
LARS |
A |
G |
exonic |
synonymous SNV |
LARS:NM_001317964:exon26:c.T2637C:p.T879T,LARS:NM_001317965:exon26:c.T2613C:p.T871T,LARS:NM_016460:exon26:c.T2694C:p.T898T,LARS:NM_020117:exon27:c.T2775C:p.T925T |
RS2895647 |
Gene expression of LARS [probe
217810_x_at] in lymphoblastoid cell lines:Gene expression of KIAA1311 probe
[GI_37549971-S] in brain cortex with no Alzheimer's interaction:Biploar
disorder (bipolar schizoaffective disorder):Fasting blood glucose:Gene expression
of LARS in peripheral blood monocytes:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Microalbuminuria:Obesity with early age of onset
(age >2):Years of education |
|
5 |
145508636 |
1 |
LARS |
T |
C |
exonic |
nonsynonymous SNV |
LARS:NM_001317964:exon25:c.A2536G:p.N846D,LARS:NM_001317965:exon25:c.A2512G:p.N838D,LARS:NM_016460:exon25:c.A2593G:p.N865D,LARS:NM_020117:exon26:c.A2674G:p.N892D |
|
5 |
145508637 |
1 |
LARS |
A |
C |
exonic |
synonymous SNV |
LARS:NM_001317964:exon25:c.T2535G:p.V845V,LARS:NM_001317965:exon25:c.T2511G:p.V837V,LARS:NM_016460:exon25:c.T2592G:p.V864V,LARS:NM_020117:exon26:c.T2673G:p.V891V |
|
5 |
145523105 |
1 |
LARS |
G |
A |
exonic |
synonymous SNV |
LARS:NM_001317964:exon18:c.C1609T:p.L537L,LARS:NM_001317965:exon18:c.C1585T:p.L529L,LARS:NM_016460:exon18:c.C1666T:p.L556L,LARS:NM_020117:exon19:c.C1747T:p.L583L |
|
5 |
145539996 |
1 |
LARS |
T |
G |
exonic |
synonymous SNV |
LARS:NM_001317964:exon6:c.A510C:p.S170S,LARS:NM_001317965:exon6:c.A486C:p.S162S,LARS:NM_016460:exon6:c.A567C:p.S189S,LARS:NM_020117:exon7:c.A648C:p.S216S |
|
5 |
145543972 |
1 |
LARS |
G |
A |
exonic |
synonymous SNV |
LARS:NM_001317964:exon5:c.C357T:p.G119G,LARS:NM_001317965:exon5:c.C333T:p.G111G,LARS:NM_016460:exon5:c.C414T:p.G138G,LARS:NM_020117:exon6:c.C495T:p.G165G |
RS3763373 |
Fasting blood glucose:Body mass
index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Obesity with
early age of onset (age >2):Years of education:Gene expression of PLAC8L1
in normal prepouch ileum:Gene expression of LARS in normal prepouch ileum |
|
5 |
145890028 |
2 |
TCERG1 |
A |
G |
exonic |
synonymous SNV |
TCERG1:NM_001040006:exon21:c.A3057G:p.S1019S,TCERG1:NM_006706:exon22:c.A3120G:p.S1040S |
RS4705103 |
Fasting
insulin:HOMA-IR:Microalbuminuria:Infant head circumference |
|
5 |
149360877 |
2 |
SLC26A2 |
T |
C |
exonic |
nonsynonymous SNV |
SLC26A2:NM_000112:exon3:c.T1721C:p.I574T |
|
5 |
149677851 |
2 |
ARSI |
A |
G |
exonic |
synonymous SNV |
ARSI:NM_001012301:exon2:c.T636C:p.Y212Y |
|
5 |
149919739 |
1 |
NDST1 |
G |
C |
exonic |
synonymous SNV |
NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T |
RS1290147 |
Waist hip ratio:Refractive error |
|
5 |
150097883 |
1 |
DCTN4 |
G |
C |
exonic |
nonsynonymous SNV |
DCTN4:NM_001135644:exon11:c.C855G:p.F285L,DCTN4:NM_016221:exon11:c.C1026G:p.F342L,DCTN4:NM_001135643:exon12:c.C1047G:p.F349L |
RS11954652 |
LDL cholesterol:Mitral annular
calcium |
|
5 |
150425467 |
1 |
TNIP1 |
G |
A |
exonic |
synonymous SNV |
TNIP1:NM_001252386:exon8:c.C732T:p.G244G,TNIP1:NM_001258455:exon8:c.C891T:p.G297G,TNIP1:NM_001258456:exon8:c.C891T:p.G297G,TNIP1:NM_001252385:exon9:c.C891T:p.G297G,TNIP1:NM_001252390:exon9:c.C891T:p.G297G,TNIP1:NM_001252391:exon9:c.C891T:p.G297G,TNIP1:NM_001252392:exon9:c.C891T:p.G297G,TNIP1:NM_001252393:exon9:c.C891T:p.G297G,TNIP1:NM_001258454:exon9:c.C891T:p.G297G,TNIP1:NM_006058:exon9:c.C891T:p.G297G |
RS2233299 |
Gene expression of GPX3 in
blood:Infant head circumference:Myasthenia gravis:Asthma:College
completion:Aortic valve calcium |
|
5 |
150436503 |
1 |
TNIP1 |
G |
C |
exonic |
nonsynonymous SNV |
TNIP1:NM_001252386:exon5:c.C292G:p.P98A,TNIP1:NM_001258455:exon5:c.C451G:p.P151A,TNIP1:NM_001258456:exon5:c.C451G:p.P151A,TNIP1:NM_001252385:exon6:c.C451G:p.P151A,TNIP1:NM_001252390:exon6:c.C451G:p.P151A,TNIP1:NM_001252391:exon6:c.C451G:p.P151A,TNIP1:NM_001252392:exon6:c.C451G:p.P151A,TNIP1:NM_001252393:exon6:c.C451G:p.P151A,TNIP1:NM_001258454:exon6:c.C451G:p.P151A,TNIP1:NM_006058:exon6:c.C451G:p.P151A |
RS2233290 |
Myasthenia gravis |
|
5 |
150489390 |
2 |
ANXA6 |
A |
G |
exonic |
synonymous SNV |
ANXA6:NM_001193544:exon21:c.T1512C:p.P504P,ANXA6:NM_001155:exon22:c.T1608C:p.P536P |
RS1133202 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Longstanding arthritis:Arthritis
including non-Rheumatoid:Rheumatoid arthritis:Total cholesterol:PROP taste
detection threshold |
|
5 |
150639409 |
1 |
GM2A |
A |
G |
exonic |
nonsynonymous SNV |
GM2A:NM_000405:exon2:c.A175G:p.I59V,GM2A:NM_001167607:exon2:c.A175G:p.I59V |
RS153477 |
Fasting
insulin:HOMA-IR:Triglycerides change with statins:Triglycerides:Gene
expression of GM2A [probeset 33646_g_at] in sputum:Gene expression of GM2A
[probeset 215891_s_at] in sputum:Parkinson's disease |
|
5 |
150639439 |
1 |
GM2A |
A |
G |
exonic |
nonsynonymous SNV |
GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V |
RS153478 |
Gene expression of probe 1559776_at
in lymphoblastoid cell lines:Simpson-Angus Scale:HOMA-IR:Fasting
insulin:Fasting blood glucose:Gene expression of GM2A in peripheral blood
monocytes:Gene expression of NAG18 in peripheral blood
monocytes:Triglycerides:Parkinson's disease |
|
5 |
150646888 |
1 |
GM2A |
T |
C |
exonic |
nonsynonymous SNV |
GM2A:NM_000405:exon4:c.T458C:p.V153A |
|
5 |
153413390 |
1 |
FAM114A2 |
C |
T |
exonic |
nonsynonymous SNV |
FAM114A2:NM_001317995:exon3:c.G154A:p.G52S,FAM114A2:NM_001317994:exon4:c.G364A:p.G122S,FAM114A2:NM_018691:exon4:c.G364A:p.G122S,FAM114A2:NM_001317993:exon5:c.G364A:p.G122S |
RS2578377 |
Hip bone mineral density
(BMD):Differential exon level expression of C5orf3 [probe 2882611] in brain
cortex:Differential exon level expression of C5orf3 [probe 2882608] in brain
cortex:Differential exon level expression of C5orf3 [probe 2882608] in peripheral
blood mononuclear cells:Differential exon level expression of C5orf3 [probe
2882607] in brain cortex:Differential exon level expression of C5orf3 [probe
2882611] in peripheral blood mononuclear cells:HDL cholesterol:LDL
cholesterol:Refractive error:Aortic valve calcium:Primary rhegmatogenous
retinal detachment:Gene expression of FAM114A2 in normal prepouch ileum:Birth
weight |
|
5 |
153429459 |
1 |
MFAP3 |
T |
C |
exonic |
synonymous SNV |
MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D |
|
5 |
153432733 |
1 |
MFAP3 |
T |
C |
exonic |
synonymous SNV |
MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A |
|
5 |
153432970 |
1 |
MFAP3 |
C |
T |
exonic |
synonymous SNV |
MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D |
RS2255493 |
HDL cholesterol:LDL
cholesterol:Gene expression of FAM114A2 in normal prepouch ileum:Birth
weight:Aortic valve calcium |
|
5 |
154268902 |
2 |
GEMIN5 |
C |
T |
exonic |
synonymous SNV |
GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A |
RS816739 |
Systolic blood pressure (SBP):Aortic
valve calcium |
|
5 |
154278151 |
1 |
GEMIN5 |
G |
A |
exonic |
nonsynonymous SNV |
GEMIN5:NM_001252156:exon23:c.C3191T:p.A1064V,GEMIN5:NM_015465:exon23:c.C3194T:p.A1065V |
|
5 |
154291409 |
2 |
GEMIN5 |
C |
T |
exonic |
nonsynonymous SNV |
GEMIN5:NM_001252156:exon15:c.G2042A:p.R681Q,GEMIN5:NM_015465:exon15:c.G2045A:p.R682Q |
RS1974777 |
HOMA-B:HDL cholesterol change with
statins:Gene expression of C5orf4 in blood:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels |
|
5 |
154300940 |
2 |
GEMIN5 |
A |
C |
exonic |
synonymous SNV |
GEMIN5:NM_001252156:exon10:c.T1422G:p.T474T,GEMIN5:NM_015465:exon10:c.T1425G:p.T475T |
RS348739 |
HOMA-B:HDL cholesterol change with
statins:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels:Advanced age-related
macular degeneration |
|
5 |
154306972 |
2 |
GEMIN5 |
T |
C |
exonic |
synonymous SNV |
GEMIN5:NM_001252156:exon7:c.A1050G:p.L350L,GEMIN5:NM_015465:exon7:c.A1053G:p.L351L |
RS2258437 |
HOMA-B:HDL cholesterol change with
statins:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
5 |
159820931 |
1 |
ZBED8 |
C |
A |
exonic |
nonsynonymous SNV |
ZBED8:NM_022090:exon2:c.G1567T:p.A523S,ZBED8:NM_001303251:exon3:c.G1567T:p.A523S |
RS10515808 |
Gene expression of SLU7 [transcript
NM_006425, probe A_24_P174824] in liver:Weight loss after Roux-en-Y gastric
bypass surgery:Birth weight:Serum metabolite (mass spec peak: 831.1 m/z) |
|
5 |
167850748 |
2 |
WWC1 |
A |
G |
exonic |
synonymous SNV |
WWC1:NM_001161661:exon11:c.A1485G:p.S495S,WWC1:NM_001161662:exon11:c.A1485G:p.S495S,WWC1:NM_015238:exon11:c.A1485G:p.S495S |
|
5 |
167891830 |
1 |
WWC1 |
T |
C |
exonic |
synonymous SNV |
WWC1:NM_001161661:exon21:c.T3031C:p.L1011L,WWC1:NM_001161662:exon21:c.T3031C:p.L1011L,WWC1:NM_015238:exon21:c.T3013C:p.L1005L |
RS3203960 |
LDL cholesterol change with
statins:Age at death with kuru exposure:Mitral annular calcium:Advanced
age-related macular degeneration (geographic atrophy):Birth weight |
|
5 |
167937607 |
1 |
RARS |
G |
A |
exonic |
synonymous SNV |
RARS:NM_002887:exon12:c.G1368A:p.S456S |
RS2290629 |
HOMA-B:Fasting insulin:Waist hip
ratio |
|
5 |
167943827 |
1 |
RARS |
G |
A |
exonic |
synonymous SNV |
RARS:NM_002887:exon13:c.G1497A:p.A499A |
RS653568 |
Triglycerides:Differential exon
level expression of RARS [probe 2839673] in peripheral blood mononuclear
cells:Differential exon level expression of RARS [probe 2839673] in brain
cortex:Triglycerides change with statins:Partial epilepsy:Asthma:Variant Creutzfeldt-Jakob
disease:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis |
|
5 |
169021610 |
2 |
SPDL1 |
C |
T |
exonic |
synonymous SNV |
SPDL1:NM_001329639:exon7:c.C816T:p.L272L,SPDL1:NM_001329640:exon7:c.C816T:p.L272L,SPDL1:NM_001329641:exon7:c.C816T:p.L272L,SPDL1:NM_017785:exon7:c.C816T:p.L272L,SPDL1:NM_001329642:exon8:c.C603T:p.L201L,SPDL1:NM_001329643:exon8:c.C603T:p.L201L |
RS4493692 |
Total cholesterol:LDL
cholesterol:Waist hip ratio:Years of education:College completion:Gene
expression of CCDC99 in normal prepouch ileum:Diabetic retinopathy in Type 2
diabetes mellitus |
|
5 |
169028481 |
2 |
SPDL1 |
T |
C |
exonic |
nonsynonymous SNV |
SPDL1:NM_001329639:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329640:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329641:exon11:c.T1522C:p.Y508H,SPDL1:NM_017785:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329642:exon12:c.T1309C:p.Y437H,SPDL1:NM_001329643:exon12:c.T1309C:p.Y437H |
RS3797713 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Total
cholesterol:LDL cholesterol:Gene expression of FLJ20364 in CD4+
lymphocytes:Waist hip ratio:Alzheimer's disease (APOE3 homozygotes):Gene
expression of CCDC99 in normal prepouch ileum:Diabetic retinopathy in Type 2
diabetes mellitus:Hepatitis C virus (HCV)-induced liver fibrosis:College
completion:Transmission distortion:Years of education |
|
5 |
169031150 |
2 |
SPDL1 |
T |
C |
exonic |
nonsynonymous SNV |
SPDL1:NM_001329641:exon12:c.T1757C:p.L586S,SPDL1:NM_017785:exon12:c.T1757C:p.L586S,SPDL1:NM_001329643:exon13:c.T1544C:p.L515S |
RS3777084 |
Total cholesterol:LDL
cholesterol:Waist hip ratio:College completion:Gene expression of CCDC99 in
normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus:Years
of education |
|
5 |
171533656 |
2 |
STK10 |
C |
T |
exonic |
synonymous SNV |
STK10:NM_005990:exon6:c.G756A:p.S252S |
|
5 |
172196711 |
2 |
DUSP1 |
G |
T |
exonic |
synonymous SNV |
DUSP1:NM_004417:exon3:c.C600A:p.I200I |
RS2431663 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
5 |
175998246 |
1 |
CDHR2 |
T |
C |
exonic |
synonymous SNV |
CDHR2:NM_001171976:exon6:c.T348C:p.D116D,CDHR2:NM_017675:exon6:c.T348C:p.D116D |
RS17078320 |
HDL cholesterol:Fasting blood
glucose |
|
5 |
176002144 |
2 |
CDHR2 |
A |
C |
exonic |
synonymous SNV |
CDHR2:NM_001171976:exon8:c.A555C:p.I185I,CDHR2:NM_017675:exon8:c.A555C:p.I185I |
RS4242200 |
HOMA-B:Triglycerides change with
statins:Gene expression of DTNBP1 in peripheral blood monocytes:HDL
cholesterol:Mitral annular calcium:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
5 |
176004476 |
2 |
CDHR2 |
T |
C |
exonic |
nonsynonymous SNV |
CDHR2:NM_001171976:exon13:c.T1271C:p.V424A,CDHR2:NM_017675:exon13:c.T1271C:p.V424A |
|
5 |
176005477 |
1 |
CDHR2 |
C |
T |
exonic |
synonymous SNV |
CDHR2:NM_001171976:exon16:c.C1686T:p.D562D,CDHR2:NM_017675:exon16:c.C1686T:p.D562D |
RS2358747 |
HDL cholesterol:Chronic kidney
disease |
|
5 |
176011889 |
1 |
CDHR2 |
G |
A |
exonic |
synonymous SNV |
CDHR2:NM_001171976:exon19:c.G2607A:p.A869A,CDHR2:NM_017675:exon19:c.G2607A:p.A869A |
RS4868660 |
Irritible bowel syndrome:Gene
expression of SNCB (probeID ILMN_1779343) in cerebellum in Alzheimer's
disease cases:Gene expression of SNCB (probeID ILMN_1779343) in cerebellum in
Alzheimer's disease cases and controls |
|
5 |
176017639 |
1 |
CDHR2 |
C |
A |
exonic |
nonsynonymous SNV |
CDHR2:NM_001171976:exon28:c.C3490A:p.L1164M,CDHR2:NM_017675:exon28:c.C3490A:p.L1164M |
|
5 |
176517461 |
2 |
FGFR4 |
T |
G |
exonic |
synonymous SNV |
FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_001291980:exon3:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R |
|
5 |
176517797 |
2 |
FGFR4 |
C |
T |
exonic |
nonsynonymous SNV |
FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_001291980:exon4:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L |
RS376618 |
Cystatin C in serum:Height:Body
mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RAB24 in
blood:Gene expression of AC146507.3///MXD3 in blood |
|
5 |
176518784 |
2 |
FGFR4 |
C |
T |
exonic |
synonymous SNV |
FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_001291980:exon6:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R |
|
5 |
176520243 |
2 |
FGFR4 |
G |
A |
exonic |
nonsynonymous SNV |
FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R |
RS351855 |
HOMA-IR:Fasting blood
glucose:Fasting insulin:HDL cholesterol:Chronic kidney disease:Cystatin C in
serum:Serum creatinine:Total cholesterol:Gene expression of FGFR4 in normal
prepouch ileum:Gene expression of PRELID1 in normal prepouch ileum:Prostate
cancer:Aortic valve calcium |
|
5 |
176733116 |
2 |
PRELID1 |
A |
G |
exonic |
synonymous SNV |
PRELID1:NM_001271828:exon4:c.A450G:p.R150R,PRELID1:NM_013237:exon4:c.A450G:p.R150R |
RS4631 |
Gene expression of PRELID1 in
normal prepouch ileum:Gene expression of RAB24 in normal prepouch ileum |
|
5 |
176885178 |
2 |
DBN1 |
A |
G |
exonic |
nonsynonymous SNV |
DBN1:NM_004395:exon12:c.T1657C:p.S553P,DBN1:NM_080881:exon13:c.T1663C:p.S555P |
|
5 |
176894491 |
1 |
DBN1 |
T |
C |
exonic |
synonymous SNV |
DBN1:NM_004395:exon5:c.A468G:p.A156A,DBN1:NM_080881:exon6:c.A474G:p.A158A |
|
5 |
176940384 |
1 |
DDX41 |
G |
A |
exonic |
synonymous SNV |
DDX41:NM_001321732:exon10:c.C822T:p.R274R,DDX41:NM_001321830:exon11:c.C822T:p.R274R,DDX41:NM_016222:exon11:c.C1200T:p.R400R |
RS335438 |
Gene expression of DOK3
(ENSG00000146094) in dendritic cells |
|
5 |
176951276 |
2 |
FAM193B |
A |
G |
exonic |
nonsynonymous SNV |
FAM193B:NM_001190946:exon6:c.T2206C:p.S736P |
|
5 |
177031348 |
1 |
B4GALT7 |
T |
C |
exonic |
synonymous SNV |
B4GALT7:NM_007255:exon2:c.T219C:p.R73R |
|
5 |
177035964 |
1 |
B4GALT7 |
T |
C |
exonic |
synonymous SNV |
B4GALT7:NM_007255:exon5:c.T777C:p.H259H |
|
5 |
179020622 |
1 |
RUFY1 |
T |
C |
exonic |
synonymous SNV |
RUFY1:NM_001040451:exon10:c.T1065C:p.N355N,RUFY1:NM_001040452:exon11:c.T1065C:p.N355N,RUFY1:NM_025158:exon11:c.T1389C:p.N463N |
RS4701135 |
PROP taste detection threshold:Birth
weight |
|
5 |
179025789 |
1 |
RUFY1 |
G |
A |
exonic |
synonymous SNV |
RUFY1:NM_001040451:exon13:c.G1404A:p.R468R,RUFY1:NM_001040452:exon14:c.G1404A:p.R468R,RUFY1:NM_025158:exon14:c.G1728A:p.R576R |
|
5 |
179193598 |
1 |
MAML1 |
C |
T |
exonic |
synonymous SNV |
MAML1:NM_014757:exon2:c.C1587T:p.S529S |
RS3797776 |
Gene expression of CANX in
Fibroblasts:Gene expression of CANX in blood:Gene expression of MAML1///LTC4S
in blood:Obesity with early age of onset (age >2) |
|
5 |
179201847 |
1 |
MAML1 |
G |
A |
exonic |
nonsynonymous SNV |
MAML1:NM_014757:exon5:c.G3020A:p.S1007N |
RS6895902 |
Gene expression of CANX [probe
200068_s_at] in prefrontal cortex:Gene expression of PRM3 in peripheral blood
monocytes:Gene expression of LTC4S in peripheral blood monocytes:Body mass
index (BMI):Gene expression of CANX [probe ILMN_20955] in osteoblasts treated
with BMP2:Gene expression of AC010216.4 in blood:Gene expression of CANX in
blood:Obesity with early age of onset (age >2) |
|
5 |
179260153 |
1 |
SQSTM1 |
C |
T |
exonic |
synonymous SNV |
SQSTM1:NM_003900:exon6:c.C876T:p.D292D,SQSTM1:NM_001142298:exon7:c.C624T:p.D208D,SQSTM1:NM_001142299:exon7:c.C624T:p.D208D |
RS4935 |
Gene expression of SQSTM1 in Caudal
pons:Gene expression of SQSTM1 in Frontal cortex:Gene expression of SQSTM1 in
Temporal cortex:Gene expression of SQSTM1 in Cerebellum:Comorbid depressive
syndrome and alcohol dependence:Years of education:Salmonella-induced
pyroptosis:Refractive error |
|
5 |
179260213 |
1 |
SQSTM1 |
G |
A |
exonic |
synonymous SNV |
SQSTM1:NM_003900:exon6:c.G936A:p.R312R,SQSTM1:NM_001142298:exon7:c.G684A:p.R228R,SQSTM1:NM_001142299:exon7:c.G684A:p.R228R |
RS4797 |
Gene expression of SQSTM1 in
Cerebellum:Gene expression of SQSTM1 in Frontal cortex:Height:Comorbid
depressive syndrome and alcohol dependence:Gene expression of C5ORF45
(probeID ILMN_2409879) in breast tumors:Years of education:Refractive error |
|
5 |
179264731 |
1 |
MRNIP |
T |
C |
exonic |
nonsynonymous SNV |
MRNIP:NM_001017987:exon5:c.A527G:p.Q176R,MRNIP:NM_016175:exon7:c.A692G:p.Q231R |
RS10277 |
Gene expression of SQSTM1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of SQSTM1 [probe
213112_s_at] in lymphoblastoid cell lines:Gene expression of SQSTM1 in brain
cortex:Gene expression of OSIL in blood cells in Celiac disease:Differential
exon level expression of SQSTM1 [probe 2844524] in brain cortex:Gene
expression of SQSTM1 [probe GI_19923742-S] in brain cortex with Alzheimer's
interaction:2 hour glucose:Gene expression of CNOT6 [probe 217970_s_at] in
prefrontal cortex:Gene expression of SQSTM1 in Cerebellum:Gene expression of
SQSTM1 in Caudal pons:Gene expression of SQSTM1 in Frontal cortex:Gene
expression of SQSTM1 in CD4+ lymphocytes:Height:Gene expression of SQSTM1
[probe ILMN_22135] in osteoblasts treated with PGE2:Gene expression of SQSTM1
[probe ILMN_22135] in untreated osteoblasts:Gene expression of SQSTM1 [probe
ILMN_22135] in osteoblasts treated with dexamethasone:Gene expression of
SQSTM1 [probe ILMN_22135] in osteoblasts treated with BMP2:Gene expression of
SQSTM1 in liver:Gene expression of SQSTM1///C5orf45 in blood:Gene expression
of SQSTM1 [probeset 213112_s_at] in sputum:Gene expression of C5orf45
[probeset 220341_s_at] in sputum:Gene expression of SQSTM1 in liver:Gene
expression of SQSTM1 (probeID ILMN_1703856) in whole blood:Years of
education:Refractive error:Obesity with early age of onset (age
>2):Transmission distortion |
|
5 |
179285752 |
1 |
MRNIP |
G |
A |
exonic |
synonymous SNV |
MRNIP:NM_001017987:exon1:c.C45T:p.C15C,MRNIP:NM_016175:exon1:c.C45T:p.C15C |
RS10060182 |
Gene expression of OSIL in blood
cells in Celiac disease:Gene expression of SQSTM1 in CD4+ lymphocytes:Gene
expression of SQSTM1///C5orf45 in blood:Gene expression of C5orf45 [probeset
220341_s_at] in sputum:College completion:Refractive error:Years of education |
|
5 |
179290845 |
2 |
TBC1D9B |
T |
G |
exonic |
nonsynonymous SNV |
TBC1D9B:NM_015043:exon21:c.A3305C:p.K1102T,TBC1D9B:NM_198868:exon22:c.A3356C:p.K1119T |
RS30386 |
Gene expression of OSIL in blood
cells in Celiac disease:Schizophrenia:Fasting insulin:Gene expression of
SQSTM1 in CD4+ lymphocytes:Gene expression of SQSTM1///C5orf45 in blood:Years
of education:Infant head circumference |
|
5 |
179498595 |
2 |
RNF130 |
C |
T |
exonic |
synonymous SNV |
RNF130:NM_001280801:exon1:c.G108A:p.T36T,RNF130:NM_018434:exon1:c.G108A:p.T36T |
|
5 |
179498658 |
1 |
RNF130 |
G |
T |
exonic |
synonymous SNV |
RNF130:NM_001280801:exon1:c.C45A:p.L15L,RNF130:NM_018434:exon1:c.C45A:p.L15L |
|
5 |
180218668 |
1 |
MGAT1 |
A |
G |
exonic |
nonsynonymous SNV |
MGAT1:NM_001114619:exon2:c.T1304C:p.L435P,MGAT1:NM_001114620:exon2:c.T1304C:p.L435P,MGAT1:NM_002406:exon2:c.T1304C:p.L435P,MGAT1:NM_001114617:exon3:c.T1304C:p.L435P,MGAT1:NM_001114618:exon3:c.T1304C:p.L435P |
RS634501 |
Triglycerides change with statins |
|
5 |
180218820 |
1 |
MGAT1 |
C |
A |
exonic |
synonymous SNV |
MGAT1:NM_001114619:exon2:c.G1152T:p.V384V,MGAT1:NM_001114620:exon2:c.G1152T:p.V384V,MGAT1:NM_002406:exon2:c.G1152T:p.V384V,MGAT1:NM_001114617:exon3:c.G1152T:p.V384V,MGAT1:NM_001114618:exon3:c.G1152T:p.V384V |
|
5 |
180218831 |
1 |
MGAT1 |
G |
A |
exonic |
synonymous SNV |
MGAT1:NM_001114619:exon2:c.C1141T:p.L381L,MGAT1:NM_001114620:exon2:c.C1141T:p.L381L,MGAT1:NM_002406:exon2:c.C1141T:p.L381L,MGAT1:NM_001114617:exon3:c.C1141T:p.L381L,MGAT1:NM_001114618:exon3:c.C1141T:p.L381L |
RS2070924 |
LDL cholesterol change with
statins:Serum creatinine:Chronic kidney disease:Gene expression of MGAT1 in
blood:Gene expression of [probe 4040300 centered at chr5:180144743] in blood |
|
5 |
180219304 |
1 |
MGAT1 |
C |
T |
exonic |
nonsynonymous SNV |
MGAT1:NM_001114619:exon2:c.G668A:p.R223Q,MGAT1:NM_001114620:exon2:c.G668A:p.R223Q,MGAT1:NM_002406:exon2:c.G668A:p.R223Q,MGAT1:NM_001114617:exon3:c.G668A:p.R223Q,MGAT1:NM_001114618:exon3:c.G668A:p.R223Q |
RS7726005 |
Serum creatinine:Chronic kidney
disease:Urinary albumin-to-creatinine ratio:Gene expression of [probe 4040300
centered at chr5:180144743] in blood:Gene expression of MGAT1 in
blood:Comorbid depressive syndrome and alcohol dependence:PROP taste
detection threshold |
|
5 |
180276402 |
2 |
ZFP62 |
C |
T |
exonic |
nonsynonymous SNV |
ZFP62:NM_001172638:exon2:c.G2093A:p.R698K,ZFP62:NM_152283:exon3:c.G1994A:p.R665K |
|
5 |
180278393 |
2 |
ZFP62 |
C |
G |
exonic |
startloss |
ZFP62:NM_001172638:exon2:c.G102C:p.M34I,ZFP62:NM_152283:exon3:c.G3C:p.M1? |
|
5 |
180651231 |
1 |
TRIM41 |
G |
A |
exonic |
nonsynonymous SNV |
TRIM41:NM_033549:exon1:c.G232A:p.A78T,TRIM41:NM_201627:exon1:c.G232A:p.A78T |
|
6 |
350829 |
2 |
DUSP22 |
G |
A |
exonic |
synonymous SNV |
DUSP22:NM_020185:exon8:c.G516A:p.P172P |
|
6 |
1313117 |
2 |
FOXQ1 |
A |
C |
exonic |
nonsynonymous SNV |
FOXQ1:NM_033260:exon1:c.A178C:p.T60P |
|
6 |
1313121 |
2 |
FOXQ1 |
A |
C |
exonic |
nonsynonymous SNV |
FOXQ1:NM_033260:exon1:c.A182C:p.Q61P |
|
6 |
1313241 |
1 |
FOXQ1 |
G |
A |
exonic |
nonsynonymous SNV |
FOXQ1:NM_033260:exon1:c.G302A:p.G101D |
|
6 |
2955802 |
1 |
SERPINB6 |
T |
C |
exonic |
nonsynonymous SNV |
SERPINB6:NM_001271822:exon3:c.A310G:p.M104V,SERPINB6:NM_001271823:exon3:c.A325G:p.M109V,SERPINB6:NM_001271824:exon3:c.A268G:p.M90V,SERPINB6:NM_001271825:exon3:c.A268G:p.M90V,SERPINB6:NM_001297699:exon3:c.A268G:p.M90V,SERPINB6:NM_001297700:exon3:c.A268G:p.M90V,SERPINB6:NM_004568:exon3:c.A268G:p.M90V,SERPINB6:NM_001195291:exon4:c.A280G:p.M94V |
RS2295769 |
Total cholesterol:HDL cholesterol
change with statins:Neuroblastoma (brain cancer):Gene expression of SERPINB6
in blood:Gene expression of NQO2 in blood:Gene expression of AL133351.34 in
blood:Bipolar disorder:Parkinson's disease |
|
6 |
2959513 |
1 |
SERPINB6 |
C |
T |
exonic |
synonymous SNV |
SERPINB6:NM_001271822:exon2:c.G96A:p.T32T,SERPINB6:NM_001271823:exon2:c.G111A:p.T37T,SERPINB6:NM_001271824:exon2:c.G54A:p.T18T,SERPINB6:NM_001271825:exon2:c.G54A:p.T18T,SERPINB6:NM_001297699:exon2:c.G54A:p.T18T,SERPINB6:NM_001297700:exon2:c.G54A:p.T18T,SERPINB6:NM_004568:exon2:c.G54A:p.T18T,SERPINB6:NM_001195291:exon3:c.G66A:p.T22T |
RS2236277 |
Triglycerides:HDL cholesterol
change with statins:Autism:Gene expression of SERPINB6 in blood:Gene
expression of NQO2 in blood:Gene expression of AL133351.34 in blood:Gene
expression of NQO2 [probeset 203814_s_at] in sputum:Gene expression of
SERPINB6 [probeset 1556950_s_at] in sputum:Comorbid depressive syndrome and
alcohol dependence:Years of education:Gene expression of SERPINB6 in normal
prepouch ileum |
|
6 |
3010390 |
2 |
NQO2 |
C |
T |
exonic |
nonsynonymous SNV |
NQO2:NM_000904:exon3:c.C139T:p.L47F,NQO2:NM_001290222:exon3:c.C139T:p.L47F,NQO2:NM_001318940:exon3:c.C139T:p.L47F,NQO2:NM_001290221:exon6:c.C139T:p.L47F |
RS1143684 |
Gene expression of NQO2 in JPT
lymphoblastoid cell lines:Gene expression of NQO2 [probe 203814_s_at] in
lymphoblastoid cell lines:Differential exon level expression of NQO2 [probe
2892312] in peripheral blood mononuclear cells:Gene expression of NQO2 [probe
2892277] in peripheral blood mononuclear cells:Gene expression of NQO2 in
Lymphoblastoid cell lines:Gene expression of NQO2 in T cells:Gene expression
of NQO2 in CD4+ lymphocytes:Height:Gene expression of NQO2 [probeset
203814_s_at] in sputum:Bipolar disorder:College completion:Obesity with early
age of onset (age >2) |
|
6 |
3015790 |
1 |
NQO2 |
A |
G |
exonic |
synonymous SNV |
NQO2:NM_000904:exon5:c.A330G:p.P110P,NQO2:NM_001318940:exon5:c.A330G:p.P110P,NQO2:NM_001290221:exon8:c.A330G:p.P110P |
RS1049115 |
Gene expression of NQO2
(ENSG00000124588) in dendritic cells treated with Mycobacterium tuberculosis |
|
6 |
3077141 |
2 |
RIPK1 |
T |
C |
exonic |
synonymous SNV |
RIPK1:NM_003804:exon2:c.T84C:p.F28F |
RS2272990 |
Advanced age-related macular
degeneration (geographic atrophy):Obesity with early age of onset (age >2) |
|
6 |
3154871 |
2 |
TUBB2A |
A |
C |
exonic |
synonymous SNV |
TUBB2A:NM_001069:exon4:c.T564G:p.S188S,TUBB2A:NM_001310315:exon4:c.T309G:p.S103S |
|
6 |
3264487 |
2 |
PSMG4 |
T |
C |
exonic |
nonsynonymous SNV |
PSMG4:NM_001128592:exon3:c.T295C:p.W99R |
RS4959786 |
Gene expression of LOC389362 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of UFSP1 in
peripheral blood monocytes:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio |
|
6 |
3264502 |
2 |
PSMG4 |
G |
C |
exonic |
nonsynonymous SNV |
PSMG4:NM_001128592:exon3:c.G310C:p.G104R |
RS4959787 |
Gene expression of LOC389362 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of UFSP1 in
peripheral blood monocytes:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio |
|
6 |
3287118 |
2 |
SLC22A23 |
T |
C |
exonic |
synonymous SNV |
SLC22A23:NM_001286455:exon7:c.A678G:p.S226S,SLC22A23:NM_015482:exon7:c.A1521G:p.S507S,SLC22A23:NM_021945:exon8:c.A678G:p.S226S |
RS6910086 |
Irritible bowel syndrome:Urinary
albumin-to-creatinine ratio:Tetrology of fallot:Parkinson's disease |
|
6 |
4031998 |
2 |
PRPF4B |
A |
G |
exonic |
nonsynonymous SNV |
PRPF4B:NM_003913:exon2:c.A247G:p.I83V |
RS9503893 |
Arthritis including
non-Rheumatoid:LDL cholesterol:Colorword:LDL cholesterol:Total
cholesterol:Waist hip ratio:Refractive error:Tetrology of fallot:Primary
rhegmatogenous retinal detachment |
|
6 |
4135758 |
1 |
ECI2 |
G |
A |
exonic |
nonsynonymous SNV |
ECI2:NM_206836:exon1:c.C37T:p.R13C |
|
6 |
4998963 |
2 |
RPP40 |
A |
G |
exonic |
synonymous SNV |
RPP40:NM_001286132:exon4:c.T477C:p.A159A,RPP40:NM_006638:exon5:c.T546C:p.A182A |
RS1749144 |
Sporadic Creutzfeldt-Jakob
disease:Adiponectin levels |
|
6 |
5086070 |
2 |
PPP1R3G |
A |
G |
exonic |
synonymous SNV |
PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A |
|
6 |
5086211 |
2 |
PPP1R3G |
G |
C |
exonic |
synonymous SNV |
PPP1R3G:NM_001145115:exon1:c.G492C:p.L164L |
|
6 |
5086695 |
1 |
PPP1R3G |
C |
T |
exonic |
nonsynonymous SNV |
PPP1R3G:NM_001145115:exon1:c.C976T:p.H326Y |
|
6 |
5260936 |
1 |
LYRM4 |
A |
C |
exonic |
nonsynonymous SNV |
LYRM4:NM_001164840:exon1:c.T31G:p.S11A,LYRM4:NM_001164841:exon1:c.T31G:p.S11A,LYRM4:NM_001318782:exon1:c.T31G:p.S11A,LYRM4:NM_001318783:exon1:c.T31G:p.S11A,LYRM4:NM_020408:exon1:c.T31G:p.S11A |
RS2224391 |
Differential splicing of C6orf149
[probeset 2939933] in lymphoblastoid cell lines:Gene expression of FARS2
[probe 2893130] in brain cortex:Differential exon level expression of FARS2
[probe 2893135] in brain cortex:HDL cholesterol:Microalbuminuria:Height:Bipolar
disorder:Years of education:Salmonella-induced pyroptosis:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
6 |
5431340 |
1 |
FARS2 |
A |
G |
exonic |
nonsynonymous SNV |
FARS2:NM_001318872:exon4:c.A839G:p.N280S,FARS2:NM_006567:exon4:c.A839G:p.N280S |
RS11243011 |
Triglycerides:Cystatin C in
serum:Autism:Late onset Alzheimer's disease:Gene expression of FARS2 in
blood:Bipolar disorder:College completion |
|
6 |
7229619 |
1 |
RREB1 |
G |
A |
exonic |
synonymous SNV |
RREB1:NM_001003698:exon10:c.G1287A:p.A429A,RREB1:NM_001003699:exon10:c.G1287A:p.A429A,RREB1:NM_001003700:exon10:c.G1287A:p.A429A,RREB1:NM_001168344:exon10:c.G1287A:p.A429A |
|
6 |
7230680 |
1 |
RREB1 |
G |
T |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon10:c.G2348T:p.G783V,RREB1:NM_001003699:exon10:c.G2348T:p.G783V,RREB1:NM_001003700:exon10:c.G2348T:p.G783V,RREB1:NM_001168344:exon10:c.G2348T:p.G783V |
|
6 |
7247248 |
2 |
RREB1 |
T |
C |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P |
RS2256596 |
Childhood acute lymphoblastic
leukemia:LDL cholesterol:Height:Bipolar disorder:Variant Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in
Alzheimer's disease cases and controls |
|
6 |
7247344 |
1 |
RREB1 |
C |
A |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon11:c.C4496A:p.S1499Y,RREB1:NM_001168344:exon11:c.C4496A:p.S1499Y,RREB1:NM_001003699:exon12:c.C4661A:p.S1554Y |
|
6 |
7310259 |
1 |
SSR1 |
A |
G |
exonic |
nonsynonymous SNV |
SSR1:NM_001292008:exon2:c.T83C:p.L28S,SSR1:NM_003144:exon2:c.T83C:p.L28S |
RS10004 |
Cystatin C in serum:T-cell
recognition in leukemia patients (minor histocompatibility antigens):Comorbid
depressive syndrome and alcohol dependence:Gene expression of RREB1 (probeID
ILMN_2415267) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of RREB1 (probeID ILMN_2415267) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of RREB1 (probeID ILMN_2415267) in
cerebellum in Alzheimer's disease cases:Gene expression of RREB1 (probeID
ILMN_2415267) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's
disease cases:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum
in non-Alzheimer's disease samples:Gene expression of RREB1 (probeID
ILMN_2415267) in temporal cortex in Progressive Supranuclear Palsy cases |
|
6 |
7393452 |
1 |
RIOK1 |
C |
T |
exonic |
synonymous SNV |
RIOK1:NM_031480:exon2:c.C192T:p.D64D |
RS2274212 |
Adiponectin levels |
|
6 |
7572262 |
1 |
DSP |
A |
G |
exonic |
synonymous SNV |
DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_001319034:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G |
|
6 |
7581636 |
1 |
DSP |
G |
A |
exonic |
nonsynonymous SNV |
DSP:NM_004415:exon23:c.G5213A:p.R1738Q |
RS6929069 |
Parkinson's disease (PD):Premature
ovarian failure:HOMA-B:Fasting insulin:HOMA-IR:Lp-PLA2 mass:Years of
education |
|
6 |
7584149 |
1 |
DSP |
C |
T |
exonic |
synonymous SNV |
DSP:NM_001008844:exon24:c.C4857T:p.T1619T,DSP:NM_001319034:exon24:c.C5325T:p.T1775T,DSP:NM_004415:exon24:c.C6654T:p.T2218T |
|
6 |
7585967 |
1 |
DSP |
G |
C |
exonic |
synonymous SNV |
DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G |
|
6 |
7601720 |
1 |
SNRNP48 |
C |
T |
exonic |
synonymous SNV |
SNRNP48:NM_152551:exon5:c.C558T:p.S186S |
RS3734586 |
Years of education |
|
6 |
10085674 |
2 |
|
6 |
10530036 |
1 |
GCNT2 |
G |
A |
exonic |
nonsynonymous SNV |
GCNT2:NM_145649:exon3:c.G892A:p.E298K |
|
6 |
10989942 |
1 |
ELOVL2 |
G |
A |
exonic |
synonymous SNV |
ELOVL2:NM_017770:exon7:c.C759T:p.Y253Y |
RS12195587 |
Triglycerides change with
statins:Plasma docosapentaenoic acid levels |
|
6 |
11005686 |
1 |
ELOVL2 |
G |
A |
exonic |
synonymous SNV |
ELOVL2:NM_017770:exon3:c.C174T:p.N58N |
RS2295601 |
Plasma eicosapentaenoic acid
levels:Plasma docosapentaenoic acid levels:Plasma docosahexaenoic acid
levels:Obesity with early age of onset (age >2) |
|
6 |
11185533 |
1 |
NEDD9 |
G |
A |
exonic |
synonymous SNV |
NEDD9:NM_001271033:exon6:c.C1920T:p.T640T,NEDD9:NM_006403:exon7:c.C2367T:p.T789T,NEDD9:NM_001142393:exon8:c.C2367T:p.T789T |
RS1050775 |
2 hour glucose:Cystatin C in
serum:Total cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Parkinson's disease:Obesity with early age of
onset (age >2) |
|
6 |
11190626 |
2 |
NEDD9 |
A |
G |
exonic |
synonymous SNV |
NEDD9:NM_001271033:exon4:c.T1029C:p.V343V,NEDD9:NM_006403:exon5:c.T1476C:p.V492V,NEDD9:NM_001142393:exon6:c.T1476C:p.V492V |
RS941982 |
Triglycerides |
|
6 |
12164612 |
1 |
HIVEP1 |
C |
G |
exonic |
nonsynonymous SNV |
HIVEP1:NM_002114:exon9:c.C8075G:p.A2692G |
RS1042054 |
Fasting blood
glucose:HOMA-IR:Cystatin C in serum:Salmonella-induced pyroptosis |
|
6 |
13711279 |
2 |
RANBP9 |
A |
G |
exonic |
synonymous SNV |
RANBP9:NM_005493:exon1:c.T459C:p.R153R |
|
6 |
15496662 |
1 |
JARID2 |
C |
T |
exonic |
synonymous SNV |
JARID2:NM_001267040:exon7:c.C690T:p.P230P,JARID2:NM_004973:exon7:c.C1206T:p.P402P |
RS742099 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP) |
|
6 |
15513482 |
2 |
JARID2 |
G |
A |
exonic |
synonymous SNV |
JARID2:NM_001267040:exon16:c.G2763A:p.L921L,JARID2:NM_004973:exon16:c.G3279A:p.L1093L |
RS2235258 |
Triglycerides:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration |
|
6 |
16306751 |
1 |
ATXN1 |
G |
A |
exonic |
nonsynonymous SNV |
ATXN1:NM_001128164:exon8:c.C2257T:p.P753S,ATXN1:NM_000332:exon9:c.C2257T:p.P753S |
RS16885 |
Gene expression of ATXN1 [probe
203231_s_at] in lymphoblastoid cell lines:HDL
cholesterol:Triglycerides:Fasting blood glucose:Gene expression of ATXN1
[probeset 203231_s_at] in sputum:Comorbid depressive syndrome and alcohol
dependence:Obesity with early age of onset (age >2):Parkinson's
disease:Advanced age-related macular degeneration (geographic atrophy) |
|
6 |
16327330 |
1 |
ATXN1 |
T |
C |
exonic |
synonymous SNV |
ATXN1:NM_001128164:exon7:c.A1212G:p.E404E,ATXN1:NM_000332:exon8:c.A1212G:p.E404E |
RS2075974 |
Systolic blood pressure (SBP) |
|
6 |
16327615 |
2 |
ATXN1 |
A |
G |
exonic |
synonymous SNV |
ATXN1:NM_001128164:exon7:c.T927C:p.A309A,ATXN1:NM_000332:exon8:c.T927C:p.A309A |
|
6 |
17292048 |
1 |
RBM24 |
G |
A |
exonic |
nonsynonymous SNV |
RBM24:NM_153020:exon3:c.G274A:p.V92I,RBM24:NM_001143941:exon4:c.G235A:p.V79I,RBM24:NM_001143942:exon4:c.G409A:p.V137I |
|
6 |
17543302 |
2 |
CAP2 |
A |
G |
exonic |
synonymous SNV |
CAP2:NM_006366:exon11:c.A1137G:p.K379K |
RS9256 |
Infant head circumference |
|
6 |
17629616 |
2 |
NUP153 |
G |
A |
exonic |
synonymous SNV |
NUP153:NM_001278210:exon17:c.C2688T:p.S896S,NUP153:NM_005124:exon18:c.C2814T:p.S938S,NUP153:NM_001278209:exon19:c.C2907T:p.S969S |
RS942467 |
Diabetic retinopathy in Type 2
diabetes mellitus |
|
6 |
17633033 |
1 |
NUP153 |
G |
C |
exonic |
nonsynonymous SNV |
NUP153:NM_001278210:exon16:c.C2381G:p.S794C,NUP153:NM_005124:exon17:c.C2507G:p.S836C,NUP153:NM_001278209:exon18:c.C2600G:p.S867C |
|
6 |
17633061 |
2 |
NUP153 |
C |
T |
exonic |
nonsynonymous SNV |
NUP153:NM_001278210:exon16:c.G2353A:p.A785T,NUP153:NM_005124:exon17:c.G2479A:p.A827T,NUP153:NM_001278209:exon18:c.G2572A:p.A858T |
RS2274136 |
Triglycerides:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with
statins:Fasting serum LDL cholesterol (mg/dL) in children:Fasting serum Total
cholesterol (mg/dL) in children:Gene expression of FAM8A1 (ENSG00000137414)
in dendritic cells treated with Mycobacterium tuberculosis |
|
6 |
17688798 |
1 |
NUP153 |
G |
A |
exonic |
synonymous SNV |
NUP153:NM_001278209:exon2:c.C163T:p.L55L,NUP153:NM_001278210:exon2:c.C163T:p.L55L,NUP153:NM_005124:exon2:c.C163T:p.L55L |
|
6 |
17764755 |
1 |
KIF13A |
T |
C |
exonic |
synonymous SNV |
KIF13A:NM_001105567:exon37:c.A4860G:p.P1620P,KIF13A:NM_001105568:exon37:c.A4860G:p.P1620P,KIF13A:NM_001105566:exon38:c.A4899G:p.P1633P,KIF13A:NM_022113:exon39:c.A5004G:p.P1668P |
RS2296197 |
2 hour glucose:Gene expression of
KIF13A [transcript NM_022113, probe A_23_P214111] in liver:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Aortic valve calcium |
|
6 |
18139214 |
2 |
TPMT |
G |
A |
exonic |
synonymous SNV |
TPMT:NM_000367:exon6:c.C474T:p.I158I,TPMT:NM_001346818:exon6:c.C474T:p.I158I,TPMT:NM_001346817:exon7:c.C474T:p.I158I |
RS2842934 |
Barnes Akathisia Rating Scale:HDL
cholesterol:Total cholesterol:Height:Bipolar disorder in alcoholics:Comorbid
depressive syndrome and alcohol dependence |
|
6 |
18215303 |
2 |
KDM1B |
T |
C |
exonic |
synonymous SNV |
KDM1B:NM_153042:exon16:c.T1479C:p.D493D |
RS214585 |
Body mass index (BMI):Comorbid
depressive syndrome and alcohol dependence |
|
6 |
18256625 |
1 |
DEK |
A |
G |
exonic |
nonsynonymous SNV |
DEK:NM_001134709:exon4:c.T317C:p.V106A,DEK:NM_003472:exon5:c.T419C:p.V140A |
RS17336208 |
Triglycerides change with statins |
|
6 |
24075862 |
2 |
|
6 |
24291203 |
2 |
DCDC2 |
T |
C |
exonic |
nonsynonymous SNV |
DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G |
RS2274305 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Serum creatinine:Triglycerides:HDL
cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Aortic valve calcium:Aspirin-exacerbated respiratory disease:Percent
decrease of forced expiratory volume (FEV) for 1 month after aspirin
challenge |
|
6 |
24418348 |
1 |
MRS2 |
G |
A |
exonic |
synonymous SNV |
MRS2:NM_001286266:exon6:c.G723A:p.E241E,MRS2:NM_001286265:exon8:c.G873A:p.E291E,MRS2:NM_020662:exon8:c.G873A:p.E291E,MRS2:NM_001286264:exon9:c.G882A:p.E294E |
RS2793422 |
Differential exon level expression
of MRS2L [probe 2898472] in brain cortex:HOMA-IR:Fasting insulin:Partial
epilepsy:Gene expression of MRS2 in normal prepouch ileum:Refractive error |
|
6 |
24653273 |
1 |
TDP2 |
G |
C |
exonic |
nonsynonymous SNV |
TDP2:NM_016614:exon6:c.C745G:p.Q249E |
RS2294689 |
Irritible bowel syndrome:Neuroticism |
|
6 |
24653376 |
2 |
TDP2 |
G |
A |
exonic |
synonymous SNV |
TDP2:NM_016614:exon6:c.C642T:p.N214N |
RS1129644 |
Fasting blood glucose:Fasting
insulin:HOMA-IR:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Mitral annular calcium:Advanced age-related
macular degeneration |
|
6 |
24698215 |
1 |
ACOT13 |
G |
A |
exonic |
synonymous SNV |
ACOT13:NM_018473:exon2:c.G186A:p.T62T,ACOT13:NM_001160094:exon3:c.G117A:p.T39T |
RS7765904 |
Fasting blood glucose:HDL
cholesterol |
|
6 |
26056549 |
1 |
HIST1H1C |
A |
G |
exonic |
synonymous SNV |
HIST1H1C:NM_005319:exon1:c.T108C:p.S36S |
RS10425 |
Uric acid:LDL
cholesterol:Triglycerides change with statins:Cystatin C in
serum:Autism:Height:Urinary albumin-to-creatinine ratio:Serum urate:Gene
expression of HIST1H4C (probeID ILMN_2075334) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of HIST1H4C (probeID ILMN_2075334)
in temporal cortex in Alzheimer's disease cases and controls:Coronary artery
disease (CAD):Serum urate:Gene expression of HIST1H2AC (ENSG00000180573) in
dendritic cells:Mean corpuscular hemoglobin concentration (MCHC) |
|
6 |
26056604 |
1 |
HIST1H1C |
G |
A |
exonic |
nonsynonymous SNV |
HIST1H1C:NM_005319:exon1:c.C53T:p.A18V |
RS2230653 |
Cystatin C in serum:Height:Diabetic
retinopathy in Type 2 diabetes mellitus:Infant head circumference |
|
6 |
26124634 |
1 |
HIST1H2AC |
C |
T |
exonic |
synonymous SNV |
HIST1H2AC:NM_003512:exon1:c.C174T:p.Y58Y |
|
6 |
26545632 |
1 |
HMGN4 |
G |
A |
exonic |
synonymous SNV |
HMGN4:NM_006353:exon2:c.G198A:p.G66G |
RS4871 |
Rheumatoid arthritis:Height:Years
of education:College completion:Obesity with early age of onset (age >2) |
|
6 |
26597333 |
1 |
ABT1 |
A |
G |
exonic |
synonymous SNV |
ABT1:NM_013375:exon1:c.A123G:p.K41K |
|
6 |
26598188 |
1 |
ABT1 |
A |
G |
exonic |
synonymous SNV |
ABT1:NM_013375:exon2:c.A288G:p.G96G |
RS3800303 |
Rheumatoid arthritis:Height:Years
of education:Obesity with early age of onset (age >2):Birth weight:College
completion |
|
6 |
26598684 |
1 |
ABT1 |
A |
G |
exonic |
synonymous SNV |
ABT1:NM_013375:exon3:c.A630G:p.T210T |
|
6 |
28120898 |
1 |
ZKSCAN8 |
G |
A |
exonic |
synonymous SNV |
ZKSCAN8:NM_001278122:exon6:c.G279A:p.Q93Q,ZKSCAN8:NM_006298:exon6:c.G840A:p.Q280Q,ZKSCAN8:NM_001278119:exon7:c.G840A:p.Q280Q,ZKSCAN8:NM_001278121:exon7:c.G279A:p.Q93Q |
RS17774663 |
Gene expression of LOC222701 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines |
|
6 |
28294550 |
1 |
ZSCAN31 |
T |
C |
exonic |
nonsynonymous SNV |
ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R,ZSCAN31:NM_001135215:exon8:c.A614G:p.K205R,ZSCAN31:NM_145909:exon8:c.A614G:p.K205R |
RS853684 |
LDL cholesterol:2 hour
glucose:Lp-PLA2 activity:Rheumatoid arthritis:Methylation levels at
chr6:28429280-28429330 [hg18 coord, probe cg21750589] in Caudal pons:Gene
expression of ZNF323 in Cerebellum:Gene expression of ZNF323 in Temporal
cortex:Gene expression of ZNF323 in Frontal cortex:Gene expression:Gene
expression of ZNF165 [probe ILMN_8007] in untreated osteoblasts:Gene
expression of ZSCAN16 in liver:Gene expression of ZNF187 in blood:Gene
expression of ZNF193 in blood:Gene expression of [probe 2120082 centered at
chr6:28245177] in blood:Gene expression of AL022393.1 in blood:Gene
expression of ZNF323 (probeID ILMN_1655748) in cerebellum in non-Alzheimer's
disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in
cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323
(probeID ILMN_2377991) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases:Gene expression of ZNF323 (probeID ILMN_2377991) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323
(probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases:HIV-1
infection (natural long-term nonprogression):Gene expression of ZNF323
(probeID ILMN_2377991) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ZSCAN23 in normal
prepouch ileum:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID
ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's
disease cases:College completion:Obesity with early age of onset (age
>2):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in
Alzheimer's disease cases |
|
6 |
28359170 |
1 |
ZSCAN12 |
A |
G |
exonic |
synonymous SNV |
ZSCAN12:NM_001163391:exon4:c.T897C:p.D299D |
RS2859348 |
Gene expression of ZNF323 (probeID
ILMN_2377991) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID
ILMN_1655748) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in
Alzheimer's disease cases and controls:Obesity with early age of onset (age
>2) |
|
6 |
29523676 |
1 |
UBD |
C |
G |
exonic |
nonsynonymous SNV |
UBD:NM_006398:exon2:c.G479C:p.C160S |
RS8337 |
Height:Advanced age-related macular
degeneration |
|
6 |
29797406 |
2 |
HLA-G |
G |
A |
exonic |
synonymous SNV |
HLA-G:NM_002127:exon5:c.G831A:p.E277E |
|
6 |
29797436 |
2 |
HLA-G |
T |
C |
exonic |
synonymous SNV |
HLA-G:NM_002127:exon5:c.T861C:p.H287H |
|
6 |
29910358 |
2 |
HLA-A |
C |
G |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon1:c.C28G:p.L10V,HLA-A:NM_002116:exon1:c.C28G:p.L10V |
|
6 |
29910378 |
1 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon1:c.C48T:p.A16A,HLA-A:NM_002116:exon1:c.C48T:p.A16A |
|
6 |
29910538 |
1 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon2:c.C78T:p.S26S,HLA-A:NM_002116:exon2:c.C78T:p.S26S |
|
6 |
29910604 |
1 |
HLA-A |
C |
A |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon2:c.C144A:p.A48A,HLA-A:NM_002116:exon2:c.C144A:p.A48A |
|
6 |
29911114 |
2 |
HLA-A |
G |
A |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.G413A:p.R138Q,HLA-A:NM_002116:exon3:c.G413A:p.R138Q |
|
6 |
29911119 |
2 |
HLA-A |
G |
T |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.G418T:p.D140Y,HLA-A:NM_002116:exon3:c.G418T:p.D140Y |
|
6 |
29911154 |
2 |
HLA-A |
C |
A |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.C453A:p.N151K,HLA-A:NM_002116:exon3:c.C453A:p.N151K |
|
6 |
29911228 |
2 |
HLA-A |
A |
C |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.A527C:p.E176A,HLA-A:NM_002116:exon3:c.A527C:p.E176A |
|
6 |
29911256 |
2 |
HLA-A |
T |
G |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.T555G:p.D185E,HLA-A:NM_002116:exon3:c.T555G:p.D185E |
|
6 |
29911951 |
2 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon4:c.C672T:p.T224T,HLA-A:NM_002116:exon4:c.C672T:p.T224T |
|
6 |
29911957 |
2 |
HLA-A |
G |
A |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon4:c.G678A:p.R226R,HLA-A:NM_002116:exon4:c.G678A:p.R226R |
|
6 |
29912098 |
1 |
HLA-A |
G |
A |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon4:c.G819A:p.V273V,HLA-A:NM_002116:exon4:c.G819A:p.V273V |
|
6 |
29912108 |
1 |
HLA-A |
G |
C |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon4:c.G829C:p.E277Q,HLA-A:NM_002116:exon4:c.G829C:p.E277Q |
|
6 |
29912147 |
1 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon4:c.C868T:p.L290L,HLA-A:NM_002116:exon4:c.C868T:p.L290L |
|
6 |
29912333 |
1 |
HLA-A |
C |
T |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon5:c.C952T:p.L318F,HLA-A:NM_002116:exon5:c.C952T:p.L318F |
|
6 |
29912368 |
2 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon5:c.C987T:p.A329A,HLA-A:NM_002116:exon5:c.C987T:p.A329A |
|
6 |
29912386 |
1 |
HLA-A |
G |
C |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon5:c.G1005C:p.K335N,HLA-A:NM_002116:exon5:c.G1005C:p.K335N |
|
6 |
30121525 |
1 |
TRIM10 |
G |
A |
exonic |
synonymous SNV |
TRIM10:NM_052828:exon8:c.C1128T:p.D376D |
RS12210298 |
Total cholesterol:Adiponectin
levels:Mean corpuscular hemoglobin concentration (MCHC) |
|
6 |
30122154 |
2 |
TRIM10 |
T |
C |
exonic |
synonymous SNV |
TRIM10:NM_006778:exon7:c.A1038G:p.Q346Q,TRIM10:NM_052828:exon7:c.A1038G:p.Q346Q |
RS3094134 |
LDL cholesterol:Cystatin C in
serum:Rheumatoid arthritis:Total cholesterol:LDL
cholesterol:Height:Salmonella-induced pyroptosis:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
6 |
30128442 |
1 |
TRIM10 |
C |
T |
exonic |
nonsynonymous SNV |
TRIM10:NM_006778:exon1:c.G194A:p.R65H,TRIM10:NM_052828:exon1:c.G194A:p.R65H |
RS12212092 |
Eye
color:Triglycerides:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Partial
epilepsy:Suicide attempts in bipolar disorder:Suicide attempts in mood
disorder patients:Gene expression of TRIM10 in blood |
|
6 |
30131503 |
1 |
TRIM15 |
T |
C |
exonic |
synonymous SNV |
TRIM15:NM_033229:exon1:c.T42C:p.P14P |
|
6 |
30131546 |
1 |
TRIM15 |
A |
G |
exonic |
nonsynonymous SNV |
TRIM15:NM_033229:exon1:c.A85G:p.I29V |
|
6 |
30134987 |
1 |
TRIM15 |
C |
T |
exonic |
nonsynonymous SNV |
TRIM15:NM_033229:exon2:c.C416T:p.T139M |
|
6 |
30139699 |
1 |
TRIM15 |
G |
A |
exonic |
nonsynonymous SNV |
TRIM15:NM_033229:exon7:c.G971A:p.S324N |
RS929156 |
Rheumatoid arthritis:Multiple
sclerosis:Multiple sclerosis (females):Late onset Alzheimer's
disease:Rheumatoid arthritis:Alzheimer's disease:HDL cholesterol change with
statins:Rheumatoid arthritis:Late onset Alzheimer's disease:Late onset
Alzheimer's disease:Gene expression of TRIM26 in blood:Gene expression of
TRIM10 in blood:Gene expression of TPD52L2 in blood:Gene expression of NDUFS1
in blood:Gene expression of KIT in blood:Infant head circumference |
|
6 |
30154049 |
1 |
TRIM26 |
G |
A |
exonic |
synonymous SNV |
TRIM26:NM_001242783:exon9:c.C1224T:p.D408D,TRIM26:NM_003449:exon10:c.C1224T:p.D408D |
RS16897204 |
Chronic kidney disease:Rheumatoid
arthritis:Adiponectin levels |
|
6 |
30154199 |
1 |
TRIM26 |
T |
C |
exonic |
synonymous SNV |
TRIM26:NM_001242783:exon9:c.A1074G:p.L358L,TRIM26:NM_003449:exon10:c.A1074G:p.L358L |
RS2074473 |
LDL cholesterol:Serum
creatinine:Rheumatoid arthritis:Total cholesterol:LDL cholesterol |
|
6 |
30297505 |
1 |
TRIM39;TRIM39-RPP21 |
C |
T |
exonic |
synonymous SNV |
TRIM39-RPP21:NM_001199119:exon1:c.C411T:p.A137A,TRIM39:NM_021253:exon3:c.C411T:p.A137A,TRIM39:NM_172016:exon3:c.C411T:p.A137A |
RS1264581 |
Schizophrenia:Rheumatoid
arthritis:LDL cholesterol:Cystatin C in serum:Triglycerides:Gene expression
of TRIM10 in blood:Variant Creutzfeldt-Jakob disease |
|
6 |
30313268 |
1 |
RPP21;TRIM39-RPP21 |
G |
A |
exonic |
synonymous SNV |
RPP21:NM_001199120:exon3:c.G183A:p.R61R,RPP21:NM_001199121:exon3:c.G159A:p.R53R,RPP21:NM_024839:exon3:c.G159A:p.R53R,TRIM39-RPP21:NM_001199119:exon8:c.G1206A:p.R402R |
RS11967 |
Salmonella-induced pyroptosis:Infant
head circumference |
|
6 |
30313340 |
1 |
RPP21;TRIM39-RPP21 |
G |
C |
exonic |
nonsynonymous SNV |
RPP21:NM_001199120:exon3:c.G255C:p.Q85H,RPP21:NM_001199121:exon3:c.G231C:p.Q77H,RPP21:NM_024839:exon3:c.G231C:p.Q77H,TRIM39-RPP21:NM_001199119:exon8:c.G1278C:p.Q426H |
|
6 |
30457732 |
2 |
HLA-E |
T |
C |
exonic |
synonymous SNV |
HLA-E:NM_005516:exon2:c.T294C:p.N98N |
|
6 |
30458064 |
2 |
HLA-E |
G |
A |
exonic |
nonsynonymous SNV |
HLA-E:NM_005516:exon3:c.G382A:p.G128R |
|
6 |
30459056 |
1 |
HLA-E |
C |
T |
exonic |
synonymous SNV |
HLA-E:NM_005516:exon4:c.C753T:p.L251L |
|
6 |
30521137 |
2 |
GNL1 |
G |
A |
exonic |
synonymous SNV |
GNL1:NM_005275:exon6:c.C798T:p.D266D |
RS2074505 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol change with statins:Cystatin C in
serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Diastolic blood
pressure (DBP) |
|
6 |
30530245 |
2 |
PRR3 |
T |
C |
exonic |
synonymous SNV |
PRR3:NM_001077497:exon3:c.T477C:p.H159H,PRR3:NM_025263:exon4:c.T540C:p.H180H |
RS2074504 |
HDL cholesterol:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:LDL cholesterol change with
statins:Total cholesterol change with statins:Cystatin C in serum:Rheumatoid
arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure
(DBP):Mean corpuscular hemoglobin concentration (MCHC) |
|
6 |
30619221 |
1 |
C6orf136 |
C |
T |
exonic |
nonsynonymous SNV |
C6orf136:NM_145029:exon3:c.C340T:p.R114C,C6orf136:NM_001109938:exon4:c.C742T:p.R248C,C6orf136:NM_001161376:exon4:c.C1285T:p.R429C |
|
6 |
30627867 |
1 |
DHX16 |
T |
C |
exonic |
nonsynonymous SNV |
DHX16:NM_001164239:exon10:c.A1517G:p.D506G,DHX16:NM_003587:exon10:c.A1697G:p.D566G |
RS9262138 |
Rheumatoid arthritis:Abnormal
Involuntary Movement Scale:Simpson-Angus Scale:Serum creatinine:Rheumatoid
arthritis:Gene expression of HLA-A29.1 in peripheral blood monocytes:Gene
expression of KCNN4 in peripheral blood monocytes:Gene expression of KIT in
peripheral blood monocytes:Neuroblastoma (brain cancer):Systolic blood
pressure (SBP) |
|
6 |
30671650 |
1 |
MDC1 |
A |
G |
exonic |
synonymous SNV |
MDC1:NM_014641:exon10:c.T5310C:p.I1770I |
|
6 |
30711805 |
2 |
IER3 |
C |
G |
exonic |
nonsynonymous SNV |
IER3:NM_003897:exon2:c.G379C:p.A127P |
RS3094124 |
LDL cholesterol:Cystatin C in
serum:Rheumatoid arthritis:Total cholesterol:Parkinson's disease:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD |
|
6 |
30857072 |
1 |
DDR1 |
G |
C |
exonic |
synonymous SNV |
DDR1:NM_001202521:exon3:c.G282C:p.L94L,DDR1:NM_001202522:exon3:c.G282C:p.L94L,DDR1:NM_013994:exon3:c.G282C:p.L94L,DDR1:NM_001202523:exon4:c.G336C:p.L112L,DDR1:NM_001297652:exon4:c.G282C:p.L94L,DDR1:NM_001297653:exon4:c.G282C:p.L94L,DDR1:NM_001297654:exon4:c.G282C:p.L94L,DDR1:NM_013993:exon5:c.G282C:p.L94L,DDR1:NM_001954:exon6:c.G282C:p.L94L |
RS2229933 |
HIV-1 control (viral load at set
point):Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Advanced
age-related macular degeneration |
|
6 |
30858857 |
1 |
DDR1 |
C |
T |
exonic |
synonymous SNV |
DDR1:NM_001202521:exon4:c.C525T:p.S175S,DDR1:NM_001202522:exon4:c.C525T:p.S175S,DDR1:NM_013994:exon4:c.C525T:p.S175S,DDR1:NM_001202523:exon5:c.C579T:p.S193S,DDR1:NM_001297652:exon5:c.C525T:p.S175S,DDR1:NM_001297653:exon5:c.C525T:p.S175S,DDR1:NM_001297654:exon5:c.C525T:p.S175S,DDR1:NM_013993:exon6:c.C525T:p.S175S,DDR1:NM_001954:exon7:c.C525T:p.S175S |
RS1049622 |
Rheumatoid arthritis:HIV-1
control:Advanced age-related macular degeneration |
|
6 |
30864829 |
1 |
DDR1 |
T |
C |
exonic |
synonymous SNV |
DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_001297652:exon13:c.T1797C:p.V599V,DDR1:NM_001297653:exon13:c.T1797C:p.V599V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001297654:exon14:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V |
RS1049623 |
Psoriasis and/or psoriatic
arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Tardive
dyskinesia:HIV-1 control (viral load at set point):Rheumatoid
arthritis:Idiopathic membranous nephropathy:Gene expression of FLOT1///IER3
in blood:Gene expression of VARSL in blood:Gene expression of AL662797.7 in
blood:Gene expression of FLOT1 in blood:Bipolar disorder:Age at death with
kuru exposure:Advanced age-related macular degeneration:Aortic valve
calcium:Gene expression of VARS2 in normal prepouch ileum:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
6 |
30865204 |
1 |
DDR1 |
A |
C |
exonic |
synonymous SNV |
DDR1:NM_001202522:exon12:c.A1608C:p.P536P,DDR1:NM_001202523:exon14:c.A1989C:p.P663P,DDR1:NM_001297652:exon14:c.A1935C:p.P645P,DDR1:NM_001297653:exon14:c.A1935C:p.P645P,DDR1:NM_013994:exon14:c.A2064C:p.P688P,DDR1:NM_001297654:exon15:c.A2046C:p.P682P,DDR1:NM_001954:exon16:c.A1935C:p.P645P,DDR1:NM_013993:exon16:c.A2046C:p.P682P |
RS2267641 |
Rheumatoid arthritis:Total
cholesterol:HDL cholesterol:Height |
|
6 |
30877760 |
1 |
GTF2H4 |
A |
C |
exonic |
synonymous SNV |
GTF2H4:NM_001517:exon4:c.A294C:p.T98T |
|
6 |
30882203 |
2 |
VARS2 |
T |
C |
exonic |
synonymous SNV |
VARS2:NM_001167734:exon1:c.T15C:p.A5A |
|
6 |
30882634 |
1 |
VARS2 |
C |
T |
exonic |
synonymous SNV |
VARS2:NM_001167734:exon2:c.C111T:p.A37A,VARS2:NM_020442:exon2:c.C21T:p.A7A |
RS1264302 |
Rheumatoid arthritis:Gene
expression of VARS2 [probe 226200_at] in lymphoblastoid cell
lines:Schizophrenia:Rheumatoid arthritis:Gene expression of VARSL [probe
ILMN_5892] in osteoblasts:Total cholesterol:Rheumatoid arthritis:Total
cholesterol:Triglycerides:LDL cholesterol:Gene expression of VARS2 in CD4+
lymphocytes:Height:Gene expression of VARSL in blood:Comorbid depressive
syndrome and alcohol dependence:Bipolar disorder:Age at death with kuru
exposure:Primary rhegmatogenous retinal detachment:Gene expression of VARS2
in normal prepouch ileum:Advanced age-related macular degeneration
(geographic atrophy) |
|
6 |
30882781 |
1 |
VARS2 |
G |
T |
exonic |
synonymous SNV |
VARS2:NM_001167734:exon2:c.G258T:p.A86A,VARS2:NM_020442:exon2:c.G168T:p.A56A |
RS1264301 |
Total cholesterol:LDL
cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene
expression of VARS2 in normal prepouch ileum |
|
6 |
30887972 |
1 |
VARS2 |
C |
T |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon12:c.C852T:p.S284S,VARS2:NM_001167734:exon13:c.C1362T:p.S454S,VARS2:NM_020442:exon13:c.C1272T:p.S424S |
RS2285319 |
Rheumatoid arthritis:HIV-1
control:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
6 |
30888161 |
2 |
VARS2 |
T |
C |
exonic |
nonsynonymous SNV |
VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R |
RS2249464 |
Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:HDL cholesterol:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of VARS2 in normal prepouch ileum:Coronary artery
disease (CAD) |
|
6 |
30888169 |
1 |
VARS2 |
G |
A |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon13:c.G933A:p.L311L,VARS2:NM_001167734:exon14:c.G1443A:p.L481L,VARS2:NM_020442:exon14:c.G1353A:p.L451L |
RS2517468 |
Total cholesterol:LDL
cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene
expression of VARS2 in normal prepouch ileum |
|
6 |
30889389 |
1 |
VARS2 |
T |
C |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon17:c.T1236C:p.V412V,VARS2:NM_001167734:exon18:c.T1746C:p.V582V,VARS2:NM_020442:exon18:c.T1656C:p.V552V |
RS2074511 |
HIV-1 control (viral load at set
point):Rheumatoid arthritis:HIV-1 control:Gene expression of GTF2H4 in normal
prepouch ileum |
|
6 |
30892322 |
1 |
VARS2 |
C |
T |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon25:c.C2238T:p.P746P,VARS2:NM_001167734:exon26:c.C2748T:p.P916P,VARS2:NM_020442:exon26:c.C2658T:p.P886P |
RS2532942 |
Gene expression of VARS2 [probe
226200_at] in lymphoblastoid cell lines:Total cholesterol:Serum
creatinine:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL
cholesterol:Height:Comorbid depressive syndrome and alcohol dependence:Gene
expression of VARS2 in normal prepouch ileum:Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
30893127 |
1 |
VARS2 |
G |
A |
exonic |
nonsynonymous SNV |
VARS2:NM_001167733:exon26:c.G2330A:p.R777Q,VARS2:NM_001167734:exon27:c.G2840A:p.R947Q,VARS2:NM_020442:exon27:c.G2750A:p.R917Q |
RS9394021 |
Rheumatoid arthritis:Total
cholesterol:HDL cholesterol:Height:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
30893428 |
1 |
VARS2 |
G |
A |
exonic |
nonsynonymous SNV |
VARS2:NM_001167733:exon27:c.G2473A:p.A825T,VARS2:NM_001167734:exon28:c.G2983A:p.A995T,VARS2:NM_020442:exon28:c.G2893A:p.A965T |
|
6 |
30893728 |
2 |
VARS2 |
C |
T |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon28:c.C2613T:p.D871D,VARS2:NM_001167734:exon29:c.C3123T:p.D1041D,VARS2:NM_020442:exon29:c.C3033T:p.D1011D |
RS1043483 |
Gene expression of VARS2 [probe
226200_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
31110391 |
1 |
CCHCR1 |
G |
C |
exonic |
nonsynonymous SNV |
CCHCR1:NM_001105563:exon18:c.C2486G:p.S829C,CCHCR1:NM_001105564:exon18:c.C2594G:p.S865C,CCHCR1:NM_019052:exon18:c.C2327G:p.S776C |
RS1576 |
Gene expression of HLA-C [probe
216526_x_at] in lymphoblastoid cell lines:Serum creatinine:Rheumatoid
arthritis:LDL cholesterol:Height:Grade 2 nevirapine-induced rash in HIV-1
patients:Grade 4 nevirapine-induced rash in HIV-1 patients:Grade 1
nevirapine-induced rash in HIV-1 patients:Grade 3 nevirapine-induced rash in
HIV-1 patients:Nevirapine-induced rash in HIV-1 patients:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular
degeneration (geographic atrophy):Coronary artery disease (CAD):Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
31113030 |
2 |
CCHCR1 |
A |
G |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L |
|
6 |
31113052 |
2 |
CCHCR1 |
G |
A |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon13:c.C1659T:p.D553D,CCHCR1:NM_001105564:exon13:c.C1767T:p.D589D,CCHCR1:NM_019052:exon13:c.C1500T:p.D500D |
RS3094225 |
Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe
209698_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at]
in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in
lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Gene expression of HCG27 in lymphoblastoid cell lines:Monocyte
count:Rheumatoid arthritis:Gene expression of HLA-C in peripheral blood
monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene
expression of HLA-DRB5 in peripheral blood monocytes:Gene expression of
HLA-DQB1 in peripheral blood monocytes:Gene expression of HCG27 in peripheral
blood monocytes:Total cholesterol:Triglycerides:LDL
cholesterol:Height:Propylene glycol concentration:Nevirapine-induced rash in
HIV-1 patients:Advanced age-related macular degeneration:Gene expression of
HCG27 (probeID ILMN_1746436) in temporal cortex in non-Alzheimer's disease
samples:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Parkinson's disease:Gene expression
of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's disease cases
and controls |
|
6 |
31116210 |
1 |
CCHCR1 |
G |
A |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon10:c.C1444T:p.L482L,CCHCR1:NM_001105564:exon10:c.C1552T:p.L518L,CCHCR1:NM_019052:exon10:c.C1285T:p.L429L |
|
6 |
31116246 |
2 |
CCHCR1 |
G |
A |
exonic |
nonsynonymous SNV |
CCHCR1:NM_001105563:exon10:c.C1408T:p.R470W,CCHCR1:NM_001105564:exon10:c.C1516T:p.R506W,CCHCR1:NM_019052:exon10:c.C1249T:p.R417W |
|
6 |
31118565 |
2 |
CCHCR1 |
C |
G |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V |
RS130078 |
Total
cholesterol:Triglycerides:Height:Body mass index (BMI):Grave's
disease:Parkinson's disease:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
6 |
31125257 |
1 |
CCHCR1 |
C |
A |
exonic |
stopgain |
CCHCR1:NM_001105563:exon1:c.G121T:p.E41X,CCHCR1:NM_001105564:exon1:c.G121T:p.E41X |
|
6 |
31129616 |
2 |
TCF19 |
A |
G |
exonic |
nonsynonymous SNV |
TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V,TCF19:NM_001318908:exon4:c.A631G:p.M211V |
RS2073721 |
Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at]
in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Gene expression of HCG27 in lymphoblastoid cell lines:Total
cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration:Gene expression of CCHCR1 in normal prepouch
ileum:Parkinson's disease |
|
6 |
31129642 |
2 |
TCF19 |
A |
C |
exonic |
synonymous SNV |
TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P,TCF19:NM_001318908:exon4:c.A657C:p.P219P |
RS2073722 |
Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at]
in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL
cholesterol:Serum creatinine:Rheumatoid arthritis:Triglycerides:LDL
cholesterol:Total cholesterol:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Propylene glycol concentration:Aortic valve
calcium:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration (geographic atrophy) |
|
6 |
31129707 |
1 |
TCF19 |
C |
T |
exonic |
nonsynonymous SNV |
TCF19:NM_001077511:exon3:c.C722T:p.P241L,TCF19:NM_007109:exon3:c.C722T:p.P241L,TCF19:NM_001318908:exon4:c.C722T:p.P241L |
RS2073724 |
Type 1 diabetes, combined control
dataset:Triglycerides:Gene expression of TCF19 [probe 2902178] in peripheral
blood mononuclear cells:Rheumatoid arthritis:HIV-1 control (viral load at set
point):LDL cholesterol:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of
HLA-DQB1 in peripheral blood monocytes:Gene expression of HLA-C in peripheral
blood monocytes:Gene expression of NCOA1 in peripheral blood monocytes:Gene
expression of VARS2 in peripheral blood monocytes:Exceptional Longevity:LDL
cholesterol:Triglycerides:Total cholesterol:Asthma:Height:Nevirapine-induced
rash in HIV-1 patients:Gene expression of HCG27 in blood:Gene expression of
VARSL in blood:Gene expression of [probe 7150630 centered at chr6:31344573]
in blood:Gene expression of TMEM154 in blood:Sporadic Creutzfeldt-Jakob
disease:Gene expression of HLA-C (probeID ILMN_1721113) in whole blood:Gene
expression of HCG27 (probeID ILMN_1746436) in temporal cortex in Alzheimer's
disease cases:Coronary artery disease (CAD):Gene expression of HCG27 (probeID
ILMN_1746436) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of HCG27 (probeID ILMN_1746436) in temporal cortex in Alzheimer's
disease cases and controls |
|
6 |
31237802 |
2 |
HLA-C |
A |
G |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon5:c.T956C:p.V319A,HLA-C:NM_002117:exon5:c.T956C:p.V319A |
RS1050147 |
Sarcoidosis |
|
6 |
31237833 |
2 |
HLA-C |
T |
C |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon5:c.A925G:p.M309V,HLA-C:NM_002117:exon5:c.A925G:p.M309V |
|
6 |
31238053 |
2 |
HLA-C |
G |
C |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon4:c.C829G:p.Q277E,HLA-C:NM_002117:exon4:c.C829G:p.Q277E |
RS707908 |
Lp-PLA2 activity:Sarcoidosis |
|
6 |
31238135 |
2 |
HLA-C |
G |
A |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon4:c.C747T:p.T249T,HLA-C:NM_002117:exon4:c.C747T:p.T249T |
RS1050317 |
Sarcoidosis |
|
6 |
31238138 |
2 |
HLA-C |
C |
T |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon4:c.G744A:p.Q248Q,HLA-C:NM_002117:exon4:c.G744A:p.Q248Q |
RS1050320 |
Sarcoidosis |
|
6 |
31238230 |
2 |
HLA-C |
G |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon4:c.C652A:p.L218I,HLA-C:NM_002117:exon4:c.C652A:p.L218I |
RS1050716 |
Sarcoidosis |
|
6 |
31238957 |
2 |
HLA-C |
A |
C |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon3:c.T512G:p.L171W,HLA-C:NM_002117:exon3:c.T512G:p.L171W |
|
6 |
31239050 |
1 |
HLA-C |
G |
A |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon3:c.C419T:p.S140F,HLA-C:NM_002117:exon3:c.C419T:p.S140F |
|
6 |
31239057 |
1 |
HLA-C |
C |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon3:c.G412A:p.D138N,HLA-C:NM_002117:exon3:c.G412A:p.D138N |
|
6 |
31239407 |
2 |
HLA-C |
G |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.C312A:p.N104K,HLA-C:NM_002117:exon2:c.C312A:p.N104K |
|
6 |
31239417 |
2 |
HLA-C |
C |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.G302A:p.S101N,HLA-C:NM_002117:exon2:c.G302A:p.S101N |
RS2308557 |
Sarcoidosis |
|
6 |
31239501 |
1 |
HLA-C |
G |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.C218A:p.A73E,HLA-C:NM_002117:exon2:c.C218A:p.A73E |
|
6 |
31239518 |
2 |
HLA-C |
C |
T |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon2:c.G201A:p.P67P,HLA-C:NM_002117:exon2:c.G201A:p.P67P |
|
6 |
31239577 |
2 |
HLA-C |
A |
C |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.T142G:p.S48A,HLA-C:NM_002117:exon2:c.T142G:p.S48A |
|
6 |
31239622 |
2 |
HLA-C |
C |
A |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.G97T:p.D33Y,HLA-C:NM_002117:exon2:c.G97T:p.D33Y |
|
6 |
31322911 |
2 |
HLA-B |
C |
T |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon5:c.G985A:p.A329T |
|
6 |
31323215 |
1 |
HLA-B |
T |
C |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.A774G:p.R258R |
|
6 |
31323233 |
1 |
HLA-B |
A |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.T756C:p.T252T |
|
6 |
31323296 |
2 |
HLA-B |
A |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.T693C:p.G231G |
|
6 |
31324024 |
1 |
HLA-B |
C |
T |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon3:c.G539A:p.R180Q |
|
6 |
31324036 |
1 |
HLA-B |
T |
G |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon3:c.A527C:p.E176A |
|
6 |
31324104 |
1 |
HLA-B |
G |
A |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon3:c.C459T:p.D153D |
|
6 |
31371430 |
2 |
MICA |
T |
C |
exonic |
synonymous SNV |
MICA:NM_000247:exon1:c.T21C:p.F7F,MICA:NM_001177519:exon1:c.T21C:p.F7F |
RS2844519 |
Gene expression of HLA-B in
lymphoblastoid cell lines:Total cholesterol:Height:Body mass index (BMI):IgE
in plasma |
|
6 |
31378358 |
1 |
MICA |
T |
G |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon2:c.T109G:p.W37G,MICA:NM_001177519:exon2:c.T109G:p.W37G |
|
6 |
31378425 |
1 |
MICA |
A |
G |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon2:c.A176G:p.Y59C,MICA:NM_001177519:exon2:c.A176G:p.Y59C |
|
6 |
31378956 |
1 |
MICA |
C |
G |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon3:c.C433G:p.L145V,MICA:NM_001177519:exon3:c.C433G:p.L145V,MICA:NM_001289152:exon3:c.C142G:p.L48V,MICA:NM_001289153:exon3:c.C142G:p.L48V |
RS1051790 |
2 hour glucose:HDL
cholesterol:Rheumatoid arthritis:HDL cholesterol:Systolic blood pressure
(SBP) |
|
6 |
31378977 |
1 |
MICA |
G |
A |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon3:c.G454A:p.V152M,MICA:NM_001177519:exon3:c.G454A:p.V152M,MICA:NM_001289152:exon3:c.G163A:p.V55M,MICA:NM_001289153:exon3:c.G163A:p.V55M |
RS1051792 |
Gene expression of LOC282956 in
CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Rheumatoid
arthritis:HDL cholesterol:Total cholesterol:LDL cholesterol:Height |
|
6 |
31379109 |
1 |
MICA |
G |
A |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon3:c.G586A:p.E196K,MICA:NM_001177519:exon3:c.G586A:p.E196K,MICA:NM_001289152:exon3:c.G295A:p.E99K,MICA:NM_001289153:exon3:c.G295A:p.E99K,MICA:NM_001289154:exon3:c.G172A:p.E58K |
RS1051794 |
Gene expression of LOC282956 in CHB
lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in
lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only
(no arthritis):Psoriatic arthritis:Rheumatoid arthritis:HIV-1 seropositive
nonprogression:Schizophrenia:Rheumatoid arthritis:HIV-1 disease
progression:HIV-1 control (viral load at set point):LDL cholesterol:Cystatin
C in serum:Rheumatoid arthritis:Total cholesterol:LDL
cholesterol:Asthma:Height:Body mass index (BMI):HIV-1 control (viral
load):Gene expression of LST1///NCR3 in blood:Gene expression of [probe
7150630 centered at chr6:31344573] in blood:Gene expression of MICB in
blood:Gene expression of AL645933.8 in blood:Gene expression of HLA-B in
blood:Gene expression of HCG27 in blood:Gene expression of XRCC6 in
blood:Gene expression of TMEM154 in blood |
|
6 |
31379115 |
1 |
MICA |
G |
A |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon3:c.G592A:p.G198S,MICA:NM_001177519:exon3:c.G592A:p.G198S,MICA:NM_001289152:exon3:c.G301A:p.G101S,MICA:NM_001289153:exon3:c.G301A:p.G101S,MICA:NM_001289154:exon3:c.G178A:p.G60S |
RS1131896 |
Psoriasis and/or psoriatic
arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:LDL
cholesterol:HDL cholesterol:Triglycerides:LDL cholesterol:Gene expression of
MICA in CD4+ lymphocytes:Height:Gene expression of HCG27 in blood:Gene
expression of LST1///NCR3 in blood:Gene expression of AL645933.8 in
blood:Gene expression of HLA-B in blood |
|
6 |
31379931 |
2 |
MICA |
G |
A |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon4:c.G821A:p.R274Q,MICA:NM_001177519:exon4:c.G821A:p.R274Q,MICA:NM_001289152:exon4:c.G530A:p.R177Q,MICA:NM_001289153:exon4:c.G530A:p.R177Q,MICA:NM_001289154:exon4:c.G407A:p.R136Q |
RS1063635 |
Type 1 diabetes, Rheumatoid
arthritis, combined case analysis:Gene expression of LOC282956 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 1557242_at
in lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at]
in lymphoblastoid cell lines:Gene expression of D83543 in liver:Irritible
bowel syndrome:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:HDL
cholesterol:Height:Body mass index (BMI) |
|
6 |
31380194 |
1 |
MICA |
T |
C |
exonic |
nonsynonymous SNV |
MICA:NM_001177519:exon5:c.T985C:p.C329R,MICA:NM_001289152:exon5:c.T694C:p.C232R,MICA:NM_001289153:exon5:c.T694C:p.C232R,MICA:NM_001289154:exon5:c.T571C:p.C191R |
|
6 |
31380198 |
1 |
MICA |
C |
T |
exonic |
nonsynonymous SNV |
MICA:NM_001177519:exon5:c.C989T:p.P330L,MICA:NM_001289152:exon5:c.C698T:p.P233L,MICA:NM_001289153:exon5:c.C698T:p.P233L,MICA:NM_001289154:exon5:c.C575T:p.P192L,MICA:NM_000247:exon6:c.C985T:p.R329C |
|
6 |
31382882 |
1 |
MICA |
C |
A |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon7:c.C1118A:p.A373D |
RS9266825 |
Gene expression of LOC282956 in CHB
lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in
lymphoblastoid cell lines:LDL cholesterol:Rheumatoid arthritis:HIV-1 disease
progression:HIV-1 control (viral load at set point):Rheumatoid arthritis:HDL
cholesterol:Total cholesterol:LDL cholesterol:Height:Body mass index
(BMI):HIV-1 control |
|
6 |
31382911 |
2 |
MICA |
A |
G |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon7:c.A1147G:p.T383A |
RS1882 |
Total cholesterol:HDL
cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Height |
|
6 |
31473546 |
1 |
MICB |
A |
G |
exonic |
nonsynonymous SNV |
MICB:NM_001289160:exon2:c.A127G:p.N43D,MICB:NM_001289161:exon2:c.A223G:p.N75D,MICB:NM_005931:exon2:c.A223G:p.N75D |
|
6 |
31477681 |
1 |
MICB |
A |
G |
exonic |
nonsynonymous SNV |
MICB:NM_001289160:exon6:c.A1051G:p.T351A,MICB:NM_001289161:exon6:c.A1018G:p.T340A,MICB:NM_005931:exon6:c.A1147G:p.T383A |
|
6 |
31506624 |
2 |
DDX39B |
T |
C |
exonic |
synonymous SNV |
DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V |
RS1129640 |
Gene expression of CCHCR1 [probe
209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 in
lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index
(BMI):Gene expression of AIF1 (ENSG00000204472) in dendritic cells:Advanced
age-related macular degeneration:Cervical cancer:Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
31525912 |
2 |
NFKBIL1 |
C |
T |
exonic |
nonsynonymous SNV |
NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C |
RS3130062 |
Rheumatoid arthritis:Total
cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Infant
head circumference:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy) |
|
6 |
31594628 |
2 |
PRRC2A |
T |
A |
exonic |
synonymous SNV |
PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G |
RS3130071 |
LDL cholesterol:Total
cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL
cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Advanced
age-related macular degeneration:Gene expression of HLA-DRB5 in normal
prepouch ileum |
|
6 |
31595882 |
2 |
PRRC2A |
C |
A |
exonic |
nonsynonymous SNV |
PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K |
RS1046080 |
Gene expression of HLA-DQA1 [probe
203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:Gene expression of HCG27 in peripheral blood
monocytes:Gene expression of MICA in peripheral blood monocytes:Gene
expression of HSPA1L in peripheral blood monocytes:Gene expression of
HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-F in peripheral
blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis
(ACPA-positive):Systolic blood pressure (SBP):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration (geographic atrophy):Infant head circumference:Lupus
anticoagulant:Advanced age-related macular degeneration |
|
6 |
31601344 |
2 |
PRRC2A |
T |
C |
exonic |
nonsynonymous SNV |
PRRC2A:NM_004638:exon17:c.T4508C:p.L1503P,PRRC2A:NM_080686:exon17:c.T4508C:p.L1503P |
RS2272593 |
Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total
cholesterol:LDL cholesterol:Rheumatoid arthritis:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis
(ACPA-positive):Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Advanced age-related macular degeneration:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Infant head
circumference:Advanced age-related macular degeneration (geographic atrophy) |
|
6 |
31602967 |
1 |
PRRC2A |
G |
A |
exonic |
nonsynonymous SNV |
PRRC2A:NM_004638:exon22:c.G5219A:p.R1740H,PRRC2A:NM_080686:exon22:c.G5219A:p.R1740H |
RS1046089 |
Type 1 diabetes:Gene expression of
HLA-DQA1 [probe 203290_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB1 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB2 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB3 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB4 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB5 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of
LOC100133484 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression
of LOC100133661 [probe 221491_x_at] in lymphoblastoid cell lines:Gene
expression of LOC100133811 [probe 221491_x_at] in lymphoblastoid cell
lines:Gene expression of LOC730415 [probe 221491_x_at] in lymphoblastoid cell
lines:Gene expression of LOC731718 [probe 221491_x_at] in lymphoblastoid cell
lines:Gene expression of RNASE2 [probe 221491_x_at] in lymphoblastoid cell
lines:Gene expression of ZNF749 [probe 221491_x_at] in lymphoblastoid cell
lines:Alzheimer's disease:Extreme obesity with early age of
onset:Longstanding arthritis:Arthritis including non-Rheumatoid:Differential
splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell
lines:Schizophrenia:Differential exon level expression of CSNK2B [probe
2902572] in brain cortex:Gene expression of BAT3 [probe 2949148] in brain
cortex:Fasting insulin:HOMA-IR:Childhood acute lymphoblastic leukemia:HDL
cholesterol:Serum creatinine:Lp-PLA2 activity:Methylation levels at
chr6:31806205-31806255 [hg18 coord, probe cg18055007] in Cerebellum:Gene
expression of HCG27 in peripheral blood monocytes:Gene expression of HLA-DRB5
in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood
monocytes:Gene expression of HSPA1B in peripheral blood monocytes:Gene
expression of HLA-DRB4 in peripheral blood monocytes:Gene expression of
CSNK2B in peripheral blood monocytes:Alopecia areata:Primary biliary
cirrhosis:Primary biliary cirrhosis (antimitochondrial-antibody positive
only):HDL cholesterol:Gene expression of LY6G5C in CD4+
lymphocytes:Idiopathic membranous nephropathy:Antibody titer to hepatitis B
vaccination:Gene expression of LST1 in blood:Gene expression of AL645933.8 in
blood:Gene expression of [probe 580452 centered at chr6:31558910] in
blood:Gene expression of LY6G5C in blood:Gene expression of HSPA1B in
blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of AIF1
in blood:Rheumatoid arthritis:Diastolic blood pressure (DBP):Systolic blood
pressure (SBP):Schizophrenia:Gene expression of LY6G5C (probeID ILMN_1763467)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases
and controls:Primary ovarian insufficient (menopause <40):Age at natural
menopause:Tetrology of fallot:Coronary artery disease (CAD):Age at
menopause:Parkinson's disease:Gene expression of LY6G5C (probeID
ILMN_1763467) in cerebellum in non-Alzheimer's disease samples:Gene
expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of LY6G5C (probeID ILMN_1763467) in
temporal cortex in Alzheimer's disease cases:Gene expression of LY6G5C
(probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases:Menopause
with early age of onset (<45 years) |
|
6 |
31604010 |
1 |
PRRC2A |
C |
G |
exonic |
synonymous SNV |
PRRC2A:NM_004638:exon26:c.C5649G:p.P1883P,PRRC2A:NM_080686:exon26:c.C5649G:p.P1883P |
|
6 |
31604044 |
2 |
PRRC2A |
T |
G |
exonic |
nonsynonymous SNV |
PRRC2A:NM_004638:exon26:c.T5683G:p.L1895V,PRRC2A:NM_080686:exon26:c.T5683G:p.L1895V |
RS3132453 |
Type 1 diabetes:Rheumatoid
arthritis:Height:Spine bone mineral density (BMD):Hip bone mineral density
(BMD):Spine bone mineral density (BMD) (females):Hip bone mineral density
(BMD) (females):Irritible bowel syndrome:LDL cholesterol:Spine bone mineral
density (BMD):Hip bone mineral density (BMD):Low trauma
fracture:Schizophrenia:Rheumatoid arthritis:Bicuspid aortic valve:Total
cholesterol:HDL cholesterol:Rheumatoid arthritis:Multiple sclerosis:Total
cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index
(BMI):Parkinson's disease (PD):Gene expression of [probe 1440603 centered at
chr6:31556036] in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene
expression of LST1 in blood:Gene expression of MICB in blood:Comorbid
depressive syndrome and alcohol dependence:Parkinson's disease:Infant head
circumference |
|
6 |
31610686 |
1 |
BAG6 |
A |
G |
exonic |
nonsynonymous SNV |
BAG6:NM_001098534:exon14:c.T1855C:p.S619P,BAG6:NM_001199698:exon14:c.T1855C:p.S619P,BAG6:NM_004639:exon14:c.T1873C:p.S625P,BAG6:NM_080702:exon14:c.T1855C:p.S619P,BAG6:NM_080703:exon14:c.T1855C:p.S619P |
RS1052486 |
Type 1 diabetes:Gene expression of
AIF1 [probe 215051_x_at] in lymphoblastoid cell lines:Gene expression of
HLA-DRB4 [probe 215666_at] in lymphoblastoid cell lines:Gene expression of
HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of
AIF1 [probe 209901_x_at] in lymphoblastoid cell lines:Gene expression of AIF1
[probe 213095_x_at] in lymphoblastoid cell lines:Stabilized warfarin
dose:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid
cell lines:Gene expression of BAT3 [probe 2949148] in brain
cortex:Differential exon level expression of BAT2 [probe 2902464] in brain
cortex:Differential exon level expression of BAT3 [probe 2949188] in brain
cortex:Gene expression of BAT5 [probe 2949256] in brain cortex:Differential
exon level expression of BAT3 [probe 2949155] in brain cortex:Differential
exon level expression of BAT3 [probe 2949162] in brain cortex:Differential
exon level expression of BAT3 [probe 2949165] in brain cortex:Differential
exon level expression of BAT3 [probe 2949167] in brain cortex:Differential
exon level expression of BAT3 [probe 2949160] in brain cortex:Differential
exon level expression of BAT3 [probe 2949163] in brain cortex:Differential
exon level expression of BAT3 [probe 2949190] in brain cortex:Differential
exon level expression of BAT3 [probe 2949158] in brain cortex:Fasting
insulin:HDL cholesterol:Serum creatinine:Rheumatoid arthritis:Total
cholesterol:Gene expression of LY6G5C in CD4+ lymphocytes:Height:Body mass
index (BMI):Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of
LST1 in blood:Gene expression of BAT2 in blood:Gene expression of LST1///NCR3
in blood:Gene expression of HSPA1B in blood:Gene expression of
C6orf48///SNORD52 in blood:Gene expression of LY6G5C in blood:Gene expression
of AIF1 in blood:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of LY6G5C
(probeID ILMN_1763467) in cerebellum in non-Alzheimer's disease samples:Gene
expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's
disease cases:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of LY6G5C (probeID
ILMN_1763467) in cerebellum in Alzheimer's disease cases:Tetrology of
fallot:Gene expression of SNORA38 in normal prepouch ileum:Gene expression of
CSNK2B (ENSG00000204435) in dendritic cells treated with Mycobacterium
tuberculosis:Coronary artery disease (CAD):Infant head circumference:Gene
expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's
disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus |
|
6 |
31627449 |
1 |
C6orf47 |
C |
G |
exonic |
nonsynonymous SNV |
C6orf47:NM_021184:exon1:c.G276C:p.K92N |
RS2242655 |
Type 2 diabetes:Type 1 diabetes,
combined control dataset:Irritible bowel syndrome:Triglycerides:LDL
cholesterol:Total cholesterol:Rheumatoid arthritis:Gene expression of
HLA-DQB1 in peripheral blood monocytes:Gene expression of MSH5 in peripheral
blood monocytes:Behçet's disease:Systolic blood pressure (SBP):Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
6 |
31627523 |
2 |
C6orf47 |
C |
T |
exonic |
nonsynonymous SNV |
C6orf47:NM_021184:exon1:c.G202A:p.G68R |
RS3130617 |
Type 1 diabetes:Rheumatoid
arthritis:Spine bone mineral density (BMD):Hip bone mineral density
(BMD):Irritible bowel syndrome:Longstanding arthritis:Arthritis including
non-Rheumatoid:Rheumatoid arthritis:Differential splicing of CSNK2B [probeset
2902572] in lymphoblastoid cell lines:Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Rheumatoid arthritis:Primary biliary cirrhosis
(antimitochondrial-antibody positive only):Primary biliary
cirrhosis:Triglycerides:Total cholesterol:LDL cholesterol:Height:Neuroblastoma
(brain cancer):Rheumatoid arthritis (ACPA-positive):Gene expression of BAT2
in blood:Gene expression of [probe 6280471 centered at chr6:31885634] in
blood:Gene expression of BAT3 in blood:Gene expression of TNF in blood:Gene
expression of LST1///NCR3 in blood:Gene expression of DDAH2 in blood:Gene
expression of LST1 in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene
expression of [probe 580452 centered at chr6:31558910] in blood:Gene
expression of C6orf48///SNORD52 in blood:Gene expression of [probe 1440603
centered at chr6:31556036] in blood:Systolic blood pressure (SBP):Diastolic
blood pressure (DBP):Coronary artery disease (CAD):Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Advanced age-related macular
degeneration:Infant head circumference:Follicular lymphoma (cancer):Paternal
transmission distortion |
|
6 |
31630241 |
1 |
GPANK1 |
C |
T |
exonic |
synonymous SNV |
GPANK1:NM_033177:exon3:c.G873A:p.R291R,GPANK1:NM_001199237:exon4:c.G873A:p.R291R,GPANK1:NM_001199238:exon4:c.G873A:p.R291R,GPANK1:NM_001199239:exon4:c.G873A:p.R291R,GPANK1:NM_001199240:exon4:c.G873A:p.R291R |
RS7992 |
Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:Triglycerides:LDL
cholesterol:Serum creatinine:Gene expression of LY6G5C in
Cerebellum:Triglycerides:Total cholesterol:Gene expression of LY6G5C (probeID
ILMN_1763467) in cerebellum in Alzheimer's disease cases and controls:Birth
weight:Gene expression of LY6G5B in normal prepouch ileum:Gene expression of
LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases
and controls |
|
6 |
31635710 |
1 |
CSNK2B |
T |
C |
exonic |
synonymous SNV |
CSNK2B:NM_001282385:exon3:c.T138C:p.Y46Y,CSNK2B:NM_001320:exon3:c.T138C:p.Y46Y |
RS14365 |
LDL cholesterol:Total cholesterol |
|
6 |
31657413 |
2 |
ABHD16A |
T |
C |
exonic |
synonymous SNV |
ABHD16A:NM_001177515:exon10:c.A927G:p.L309L,ABHD16A:NM_021160:exon12:c.A1026G:p.L342L |
RS1475865 |
Gene expression of HLA-DQB1 [probe
209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:Triglycerides:Height:Urinary albumin-to-creatinine
ratio |
|
6 |
31729359 |
1 |
MSH5 |
A |
G |
exonic |
synonymous SNV |
MSH5:NM_002441:exon22:c.A2148G:p.Q716Q,MSH5:NM_025259:exon22:c.A2202G:p.Q734Q,MSH5:NM_172165:exon22:c.A2151G:p.Q717Q,MSH5:NM_172166:exon22:c.A2148G:p.Q716Q |
RS707938 |
HDL cholesterol:HDL cholesterol
change with statins:Serum creatinine:Rheumatoid arthritis:Methylation levels
at chr6:31806205-31806255 [hg18 coord, probe cg18055007] in Cerebellum:HDL
cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Schizophrenia:Gene
expression of DDAH2 (ENSG00000213722) in dendritic cells treated with
Mycobacterium tuberculosis:Diabetic retinopathy in Type 2 diabetes
mellitus:Gene expression of HSPA1A (ENSG00000204389) in dendritic cells:Gene
expression of C6orf26 in normal prepouch ileum:Schizophrenia |
|
6 |
31733759 |
1 |
VWA7 |
G |
A |
exonic |
synonymous SNV |
VWA7:NM_025258:exon16:c.C2400T:p.S800S |
|
6 |
31748820 |
1 |
VARS |
G |
A |
exonic |
synonymous SNV |
VARS:NM_006295:exon22:c.C2625T:p.D875D |
RS707926 |
Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:Triglycerides:HDL
cholesterol:Triglycerides:Total cholesterol:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Years of education:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
31762843 |
1 |
VARS |
G |
C |
exonic |
nonsynonymous SNV |
VARS:NM_006295:exon2:c.C152G:p.P51R |
RS2607015 |
HDL cholesterol:Triglycerides
change with statins:Serum creatinine:Chronic kidney disease:Rheumatoid
arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe
cg07363637] in Temporal cortex:Total cholesterol:Triglycerides:Height:Waist
hip ratio:Body mass index (BMI):Rheumatoid arthritis (ACPA-positive):Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Diabetic retinopathy in
Type 2 diabetes mellitus |
|
6 |
31762844 |
1 |
VARS |
G |
T |
exonic |
nonsynonymous SNV |
VARS:NM_006295:exon2:c.C151A:p.P51T |
|
6 |
31785228 |
2 |
HSPA1A |
G |
C |
exonic |
synonymous SNV |
HSPA1A:NM_005345:exon1:c.G1695C:p.A565A |
|
6 |
31797587 |
2 |
HSPA1B |
C |
G |
exonic |
synonymous SNV |
HSPA1B:NM_005346:exon1:c.C1860G:p.G620G |
RS539689 |
Sarcoidosis |
|
6 |
31838713 |
1 |
SLC44A4 |
G |
A |
exonic |
synonymous SNV |
SLC44A4:NM_001178044:exon9:c.C687T:p.Y229Y,SLC44A4:NM_001178045:exon10:c.C585T:p.Y195Y,SLC44A4:NM_025257:exon10:c.C813T:p.Y271Y |
RS494620 |
Rheumatoid arthritis:Irritible
bowel syndrome:Age at menopause:Rheumatoid arthritis:Fasting
insulin:HOMA-IR:Rheumatoid arthritis:Methylation levels at
chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal
cortex:Alopecia areata:Total cholesterol:Triglycerides:LDL
cholesterol:Height:Waist hip ratio:Idiopathic membranous nephropathy:Late
onset Alzheimer's disease:AIF1 gene expression in subcutaneous adipose
tissue:Gene expression of BAT2 in blood:Gene expression of [probe 6280471
centered at chr6:31885634] in blood:Gene expression of HSPA1B in blood:Gene
expression of LSM2 in blood:Gene expression of C6orf48///SNORD52 in
blood:Gene expression of TMEM154 in blood:Systolic blood pressure
(SBP):Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Advanced age-related macular
degeneration (geographic atrophy):Pemphigus vulgaris:Aortic valve calcium |
|
6 |
31864547 |
1 |
EHMT2 |
G |
T |
exonic |
nonsynonymous SNV |
EHMT2:NM_001289413:exon2:c.C335A:p.T112N,EHMT2:NM_006709:exon3:c.C164A:p.T55N,EHMT2:NM_025256:exon3:c.C164A:p.T55N |
RS7887 |
Fasting
insulin:HOMA-IR:Triglycerides change with statins:Total
cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL
cholesterol:Height:Waist hip ratio:Body mass index (BMI):Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Infant head
circumference:Salmonella-induced pyroptosis:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
6 |
31914179 |
1 |
CFB |
C |
T |
exonic |
nonsynonymous SNV |
CFB:NM_001710:exon2:c.C94T:p.R32W |
RS12614 |
Nonobstructive azoospermia |
|
6 |
31914935 |
2 |
CFB |
A |
G |
exonic |
synonymous SNV |
CFB:NM_001710:exon3:c.A450G:p.R150R |
RS1048709 |
Total cholesterol:Rheumatoid
arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe
cg07363637] in Frontal cortex:Type 2 diabetes:Total cholesterol:LDL
cholesterol:Triglycerides:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Systolic blood pressure (SBP):Comorbid depressive
syndrome and alcohol dependence:Gene expression of CYP21A2 (probeID
ILMN_1773082) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of HLA-DQB1 in normal prepouch ileum:Gene expression
of HLA-DRB5 in normal prepouch ileum:Parkinson's disease:Aortic valve
calcium:Infant head circumference:Gene expression of CYP21A2 (probeID
ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:College
completion:Adiponectin levels:Coronary artery disease (CAD) |
|
6 |
31918080 |
1 |
CFB |
C |
T |
exonic |
synonymous SNV |
CFB:NM_001710:exon12:c.C1524T:p.H508H |
|
6 |
31929014 |
2 |
SKIV2L |
A |
C |
exonic |
nonsynonymous SNV |
SKIV2L:NM_006929:exon8:c.A640C:p.M214L |
RS437179 |
Bipolar disorder:Rheumatoid
arthritis:Gene expression of HLA-DRB4 [probe 209728_at] in lymphoblastoid
cell lines:Height:Triglycerides:LDL cholesterol:Differential exon level
expression of SKIV2L [probe 2902895] in peripheral blood mononuclear
cells:Differential exon level expression of SKIV2L [probe 2902895] in brain
cortex:Rheumatoid arthritis:Alcohol dependence:Alcohol dependence (early age
of onset):Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation
levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal
cortex:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe
cg07363637] in Frontal cortex:Alopecia areata:Multiple
sclerosis:Triglycerides:LDL cholesterol:Total cholesterol:Nonalcoholic fatty
liver disease (Aspartate aminotransferase (AST)):Height:Waist hip ratio:Body
mass index (BMI):Idiopathic membranous nephropathy:Urinary
albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of
RNF5///AGER in blood:Gene expression of DDAH2 in blood:Gene expression of
LSM2 in blood:Gene expression of SKIV2L///DOM3Z in blood:Gene expression of
TMEM154 in blood:Gene expression of XRCC6 in blood:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol
dependence:Sarcoidosis:Tetrology of fallot:Gene expression of CYP21A2
(probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases:Gene
expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in
Progressive Supranuclear Palsy cases:Advanced age-related macular
degeneration:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of CYP21A2 (probeID
ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID
ILMN_1773082) in cerebellum in Alzheimer's disease cases and
controls:Coronary artery disease (CAD):Gene expression of CYP21A2 (probeID
ILMN_1773082) in cerebellum in non-Alzheimer's disease samples:Parkinson's
disease:Infant head circumference |
|
6 |
31931747 |
1 |
SKIV2L |
G |
A |
exonic |
nonsynonymous SNV |
SKIV2L:NM_006929:exon16:c.G1705A:p.V569M |
|
6 |
31936668 |
2 |
SKIV2L |
T |
C |
exonic |
synonymous SNV |
SKIV2L:NM_006929:exon26:c.T3201C:p.Y1067Y |
RS410851 |
Gene expression of HLA-DRB4 [probe
209728_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe
215666_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
211656_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe
212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA2 [probe
212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 in lymphoblastoid cell
lines:Gene expression of HLA-DQA2 in lymphoblastoid cell
lines:Triglycerides:HOMA-IR:Fasting insulin:Alcohol dependence (early age of
onset):Alcohol dependence:Total cholesterol:LDL cholesterol:Rheumatoid
arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe
cg07363637] in Frontal cortex:Methylation levels at chr6:31954925-31954975
[hg18 coord, probe cg07363637] in Temporal cortex:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Body mass index
(BMI):Comorbid depressive syndrome and alcohol dependence:Gene expression of
CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C4A (probeID ILMN_2179533) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID
ILMN_1773082) in cerebellum in Alzheimer's disease cases:Diabetic retinopathy
in Type 2 diabetes mellitus:Gene expression of CYP21A2 (probeID ILMN_1773082)
in cerebellum in non-Alzheimer's disease samples:Parkinson's disease:Infant
head circumference:Gene expression of CYP21A2 (probeID ILMN_1773082) in
temporal cortex in Alzheimer's disease cases and controls:Advanced
age-related macular degeneration:Gene expression of CYP21A2 (probeID
ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Gene expression
of MICA in normal prepouch ileum:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Sarcoidosis |
|
6 |
32097220 |
1 |
FKBPL |
T |
C |
exonic |
nonsynonymous SNV |
FKBPL:NM_022110:exon2:c.A338G:p.H113R |
|
6 |
32122386 |
2 |
PPT2 |
C |
G |
exonic |
nonsynonymous SNV |
PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W |
|
6 |
32151994 |
2 |
AGER |
A |
T |
exonic |
synonymous SNV |
AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A |
RS1800684 |
Gene expression of HLA-DQA1 [probe
213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484
[probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of
LOC100133661 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression
of LOC100133811 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of LOC730415 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of RNASE2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of ZNF749 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB1 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB3 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB4 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB5 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of LOC100133484 [probe 209312_x_at] in lymphoblastoid cell
lines:Gene expression of LOC100133661 [probe 209312_x_at] in lymphoblastoid
cell lines:Gene expression of LOC100133811 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of LOC730415 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of RNASE2 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of ZNF749 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211654_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB6 [probe 217362_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 236203_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[213831_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[212999_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209823_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[204670_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[209312_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209480_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[211654_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB6 probe[217362_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[236203_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[238900_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB3 probe[238900_at] in lymphoblastoid
cell lines:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total
cholesterol:Triglycerides:Height:Body mass index (BMI):Alzheimer's
disease:Plasma docosapentaenoic acid levels:Coronary artery disease
(CAD):Advanced age-related macular degeneration:Gene expression of HLA-DRB5
in normal prepouch ileum:Gene expression of HLA-DQB1 in normal prepouch
ileum:Parkinson's disease:College completion |
|
6 |
32157639 |
1 |
PBX2 |
C |
T |
exonic |
synonymous SNV |
PBX2:NM_002586:exon1:c.G54A:p.L18L |
RS169503 |
Cystatin C in serum:Rheumatoid
arthritis:LDL cholesterol:Waist hip ratio |
|
6 |
32796653 |
1 |
TAP2 |
C |
A |
exonic |
unknown |
UNKNOWN |
RS241449 |
LDL cholesterol:Abnormal
Involuntary Movement Scale:HIV-1 control (viral load at set point):Rheumatoid
arthritis:Gene expression of TAP2 in Cerebellum:Gene expression of TAP2 in
Temporal cortex:Gene expression of TAP2 in Frontal cortex:Total cholesterol:HDL
cholesterol:Height:Body mass index (BMI):Comorbid depressive syndrome and
alcohol dependence:Gene expression of TAP2 (probeID ILMN_1777565) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of TAP2
(probeID ILMN_1759250) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of HLA-DOB (probeID ILMN_1700428) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of TAP2 (probeID
ILMN_1759250) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TAP2 (probeID ILMN_1777565) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of HLA-DOB (probeID
ILMN_1700428) in cerebellum in Alzheimer's disease cases and controls |
|
6 |
32796685 |
1 |
TAP2 |
A |
G |
exonic |
stoploss |
TAP2:NM_001290043:exon12:c.T2059C:p.X687Q |
RS241448 |
Type 1 diabetes:Gene expression of
TAP2 [probe 225973_at] in lymphoblastoid cell lines:Gene expression of TAP2
[probe 204769_s_at] in lymphoblastoid cell lines:Gene expression of TAP2
[probe 204770_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe
208428_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Irritible
bowel syndrome:LDL cholesterol:Schizophrenia:Differential exon level
expression of TAP2 [probe 2950168] in peripheral blood mononuclear
cells:Differential exon level expression of TAP2 [probe 2950174] in brain
cortex:Differential exon level expression of TAP2 [probe 2950174] in
peripheral blood mononuclear cells:Rheumatoid arthritis:Premature ovarian
failure:HIV-1 control (viral load at set point):Rheumatoid arthritis:Gene
expression of TAP2 in Cerebellum:Gene expression of TAP2 in Frontal
cortex:Gene expression of TAP2 in Temporal cortex:Cardiac neonatal lupus:HDL
cholesterol:Total cholesterol:LDL cholesterol:Gene expression of HLA-DOB in
CD4+ lymphocytes:Gene expression of TAP2 in CD4+ lymphocytes:Height:Gene
expression of HLA-DRB1 in blood:Gene expression of [probe 1190754 centered at
chr6:32731975] in blood:Gene expression of HLA-DOB in blood:Gene expression
of TAP2 in blood:Gene expression of TAP2 [probeset 208428_at] in sputum:Gene
expression of TAP2 [probeset 204769_s_at] in sputum:Comorbid depressive
syndrome and alcohol dependence |
|
6 |
32796751 |
1 |
TAP2 |
T |
C |
exonic |
nonsynonymous SNV |
TAP2:NM_001290043:exon12:c.A1993G:p.T665A |
RS241447 |
Type 1 diabetes:Gene expression of
TAP2 [probe 208428_at] in lymphoblastoid cell lines:Gene expression of TAP2
[probe 204769_s_at] in lymphoblastoid cell lines:Gene expression of TAP2
[probe 225973_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe
204770_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL
cholesterol:Schizophrenia:Differential exon level expression of TAP2 [probe
2950174] in brain cortex:Differential exon level expression of TAP2 [probe
2950168] in peripheral blood mononuclear cells:Differential exon level
expression of TAP2 [probe 2950174] in peripheral blood mononuclear
cells:Premature ovarian failure:HIV-1 control (viral load at set
point):Rheumatoid arthritis:Gene expression of TAP2 in Temporal cortex:Gene expression
of TAP2 in Frontal cortex:Gene expression of TAP2 in Cerebellum:HDL
cholesterol:Total cholesterol:LDL cholesterol:Gene expression of HLA-DOB in
CD4+ lymphocytes:Gene expression of TAP2 in CD4+ lymphocytes:Height:Gene
expression of HLA-DRB1 in blood:Gene expression of [probe 1190754 centered at
chr6:32731975] in blood:Gene expression of TAP2 in blood:Gene expression of
HLA-DOB in blood:Gene expression of TAP2 [probeset 208428_at] in sputum:Gene
expression of TAP2 [probeset 204769_s_at] in sputum:Comorbid depressive
syndrome and alcohol dependence |
|
6 |
32800224 |
2 |
TAP2 |
C |
A |
exonic |
synonymous SNV |
TAP2:NM_001290043:exon7:c.G1158T:p.G386G,TAP2:NM_018833:exon7:c.G1158T:p.G386G |
RS2228397 |
Type 1 diabetes:Eye
color:Triglycerides:Rheumatoid arthritis:Autism:Triglycerides:Neuroblastoma
(brain cancer) |
|
6 |
32942302 |
1 |
BRD2 |
G |
A |
exonic |
synonymous SNV |
BRD2:NM_001199455:exon2:c.G93A:p.K31K,BRD2:NM_001113182:exon3:c.G93A:p.K31K,BRD2:NM_005104:exon3:c.G93A:p.K31K |
RS516535 |
Rheumatoid arthritis:Parkinson's
disease:Diabetic retinopathy in Type 2 diabetes mellitus |
|
6 |
32946133 |
1 |
BRD2 |
T |
C |
exonic |
synonymous SNV |
BRD2:NM_001199455:exon9:c.T1809C:p.S603S,BRD2:NM_001199456:exon9:c.T1668C:p.S556S,BRD2:NM_001113182:exon10:c.T1809C:p.S603S,BRD2:NM_005104:exon10:c.T1809C:p.S603S,BRD2:NM_001291986:exon11:c.T1449C:p.S483S |
RS206781 |
Rheumatoid arthritis:Gene
expression of HLA-DMB in peripheral blood monocytes:Gene expression of
HLA-DQB1 in peripheral blood monocytes:Gene expression of HLA-DMA in
peripheral blood monocytes |
|
6 |
33163451 |
2 |
RXRB |
G |
A |
exonic |
synonymous SNV |
RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F |
RS6531 |
Type 1 diabetes, gender
differentiated:Gene expression of HLA-DPB2 [probe 239975_at] in
lymphoblastoid cell lines:LDL cholesterol:2 hour glucose:LDL cholesterol
change with statins:Total cholesterol change with statins:Rheumatoid
arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene
expression of HSD17B8 in peripheral blood monocytes:Gene expression of
HLA-DPA1 in peripheral blood monocytes:Gene expression of DAXX in blood:Gene
expression of HSD17B8 in blood:Gene expression of HLA-DPB1 in blood:Gene
expression of PHF1///CUTA in blood:Sporadic Creutzfeldt-Jakob disease:Gene
expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in
non-Alzheimer's disease samples:Gene expression of RXRB in normal prepouch
ileum:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of HLA-DPB2 (probeID
ILMN_2205405) in cerebellum in Alzheimer's disease cases:Gene expression of
HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Progressive Supranuclear
Palsy cases |
|
6 |
33235755 |
1 |
VPS52 |
G |
A |
exonic |
synonymous SNV |
VPS52:NM_001289174:exon8:c.C619T:p.L207L,VPS52:NM_001289175:exon9:c.C445T:p.L149L,VPS52:NM_001289176:exon9:c.C445T:p.L149L,VPS52:NM_022553:exon9:c.C820T:p.L274L |
RS213199 |
Rheumatoid arthritis:Eye
color:Differential splicing of TAPBP [probeset 2950643] in lymphoblastoid
cell lines:Schizophrenia:Rheumatoid arthritis:2 hour glucose:HOMA-B:Fasting
blood glucose:Rheumatoid arthritis:Gene expression of RPS18 in peripheral
blood monocytes:Gene expression of TUT1 in peripheral blood monocytes:Gene
expression of TAPBP in peripheral blood monocytes:Gene expression of HLA-DPB1
in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene expression
of HSD17B8 in blood:Gene expression of B3GALT4///WDR46 in blood:Gene
expression of HLA-DPB1 in blood:Gene expression of TAPBP in blood:Resistance
to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob
disease:Crohn's disease:Coronary artery disease (CAD) |
|
6 |
33272855 |
1 |
TAPBP |
G |
C |
exonic |
nonsynonymous SNV |
TAPBP:NM_172209:exon3:c.C518G:p.T173R,TAPBP:NM_003190:exon4:c.C779G:p.T260R,TAPBP:NM_172208:exon4:c.C779G:p.T260R |
RS2071888 |
LDL cholesterol:2 hour
glucose:Fasting blood glucose:Rheumatoid arthritis:Gene expression of TAPBP
in peripheral blood monocytes:Gene expression of B3GALT4 in peripheral blood
monocytes:Gene expression of HLA-DOA in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Triglycerides:Rheumatoid arthritis
(ACPA-positive) |
|
6 |
33283766 |
1 |
ZBTB22 |
T |
C |
exonic |
nonsynonymous SNV |
ZBTB22:NM_001145338:exon2:c.A928G:p.T310A,ZBTB22:NM_005453:exon2:c.A928G:p.T310A |
RS3130100 |
Rheumatoid arthritis:LDL
cholesterol:Rheumatoid arthritis:2 hour glucose:Fasting blood
glucose:HOMA-B:Rheumatoid arthritis:Triglycerides:Neuroblastoma (brain
cancer):Rheumatoid arthritis (ACPA-positive):Gene expression of [probe
3940296 centered at chr6:33379606] in blood:Gene expression of TAPBP in
blood:Gene expression of B3GALT4///WDR46 in blood:Gene expression of HLA-DPB1
in blood:Coronary artery disease (CAD):Birth weight:Crohn's disease |
|
6 |
33288271 |
1 |
DAXX |
A |
G |
exonic |
synonymous SNV |
DAXX:NM_001254717:exon3:c.T912C:p.Y304Y,DAXX:NM_001141969:exon4:c.T1137C:p.Y379Y,DAXX:NM_001141970:exon4:c.T1173C:p.Y391Y,DAXX:NM_001350:exon4:c.T1137C:p.Y379Y |
RS1059231 |
LDL cholesterol:2 hour
glucose:HOMA-B:HOMA-IR:Fasting insulin:Rheumatoid arthritis:Autism with high
IQ:Triglycerides:Gene expression change of DAXX (ENSG00000204209) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
6 |
33382288 |
2 |
PHF1 |
G |
A |
exonic |
nonsynonymous SNV |
PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K |
RS3116713 |
Alzheimer's disease:Fasting
insulin:HOMA-IR:Body mass index (BMI):Gene expression of TAPBP in blood:Gene
expression of HSD17B8 in blood:Gene expression of ITPR3 in blood:Systolic
blood pressure (SBP):Imprinting effects on cleft lip without cleft palate |
|
6 |
33422976 |
2 |
ZBTB9 |
T |
G |
exonic |
synonymous SNV |
ZBTB9:NM_152735:exon2:c.T99G:p.S33S |
RS3119025 |
Fasting insulin:HOMA-IR:Body mass
index (BMI):Systolic blood pressure (SBP):Salmonella-induced
pyroptosis:College completion |
|
6 |
33636907 |
1 |
ITPR3 |
C |
T |
exonic |
synonymous SNV |
ITPR3:NM_002224:exon18:c.C2163T:p.H721H |
RS2077163 |
Triglycerides |
|
6 |
33638180 |
1 |
ITPR3 |
C |
T |
exonic |
synonymous SNV |
ITPR3:NM_002224:exon19:c.C2268T:p.G756G |
RS2229634 |
Systemic lupus erythematosus
(SLE):Irritible bowel syndrome:Triglycerides:Rheumatoid
arthritis:Height:Suicide attempts in bipolar disorder:Gene expression of
ITPR3 in blood:Years of education |
|
6 |
33641379 |
1 |
ITPR3 |
T |
C |
exonic |
synonymous SNV |
ITPR3:NM_002224:exon23:c.T2940C:p.N980N |
RS1803831 |
Systemic lupus erythematosus
(SLE):Triglycerides:Birth weight |
|
6 |
33651129 |
1 |
ITPR3 |
C |
T |
exonic |
synonymous SNV |
ITPR3:NM_002224:exon35:c.C4743T:p.P1581P |
RS942636 |
Systemic lupus erythematosus
(SLE):HDL cholesterol:Body mass index (BMI):College completion:Years of
education |
|
6 |
33653448 |
1 |
ITPR3 |
C |
T |
exonic |
synonymous SNV |
ITPR3:NM_002224:exon41:c.C5511T:p.G1837G |
RS749338 |
Fasting blood glucose:Childhood
acute lymphoblastic leukemia:Rheumatoid arthritis:Gene expression of BAK1 in
peripheral blood monocytes:Gene expression of ITPR3 in peripheral blood
monocytes:Height:Body mass index (BMI):Obesity (body mass index (BMI)):College
completion:Years of education |
|
6 |
33653486 |
1 |
ITPR3 |
G |
A |
exonic |
nonsynonymous SNV |
ITPR3:NM_002224:exon41:c.G5549A:p.R1850Q |
RS12528378 |
Breast cancer |
|
6 |
33659472 |
1 |
ITPR3 |
C |
G |
exonic |
nonsynonymous SNV |
ITPR3:NM_002224:exon53:c.C7306G:p.L2436V |
RS2229642 |
Fasting blood glucose:Rheumatoid
arthritis:Height:Obesity (body mass index (BMI)):Body mass index
(BMI):College completion:Years of education |
|
6 |
34214322 |
1 |
SMIM29 |
C |
G |
exonic |
nonsynonymous SNV |
SMIM29:NM_001287397:exon4:c.G389C:p.G130A,SMIM29:NM_001287398:exon4:c.G389C:p.G130A,SMIM29:NM_001008703:exon5:c.G449C:p.G150A,SMIM29:NM_001008704:exon5:c.G449C:p.G150A,SMIM29:NM_001287396:exon5:c.G449C:p.G150A,SMIM29:NM_178508:exon5:c.G449C:p.G150A |
RS1150781 |
Triglycerides change with
statins:Height:Height (adults):Height (adult females):Height (adult
males):Height:Birth weight |
|
6 |
34826301 |
1 |
UHRF1BP1 |
C |
T |
exonic |
nonsynonymous SNV |
UHRF1BP1:NM_017754:exon14:c.C2168T:p.P723L |
|
6 |
34949607 |
2 |
ANKS1A |
C |
T |
exonic |
synonymous SNV |
ANKS1A:NM_015245:exon4:c.C576T:p.Y192Y |
RS2293242 |
HOMA-B:Fasting insulin:HOMA-IR |
|
6 |
35050506 |
2 |
ANKS1A |
G |
A |
exonic |
synonymous SNV |
ANKS1A:NM_015245:exon18:c.G2748A:p.P916P |
RS2177382 |
Height:Adiponectin levels:Years of
education |
|
6 |
35260503 |
2 |
ZNF76 |
C |
T |
exonic |
synonymous SNV |
ZNF76:NM_001292032:exon10:c.C1104T:p.H368H,ZNF76:NM_003427:exon10:c.C1104T:p.H368H |
RS1557567 |
Fasting
insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL
cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels |
|
6 |
35260530 |
2 |
ZNF76 |
C |
T |
exonic |
synonymous SNV |
ZNF76:NM_001292032:exon10:c.C1131T:p.S377S,ZNF76:NM_003427:exon10:c.C1131T:p.S377S |
RS1557568 |
Fasting
insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL
cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin
levels:Gene expression of ZNF76 in normal prepouch ileum |
|
6 |
35285720 |
2 |
DEF6 |
A |
C |
exonic |
nonsynonymous SNV |
DEF6:NM_022047:exon6:c.A860C:p.N287T |
RS2395617 |
Height:Late onset Alzheimer's
disease:Gene expression of DEF6 in blood:Gene expression of ZNF76 in
blood:Gene expression of PPARD in blood:Gene expression of ZNF76 in normal
prepouch ileum:Gene expression of PPARD (ENSG00000112033) in dendritic cells |
|
6 |
35391787 |
2 |
PPARD |
C |
T |
exonic |
synonymous SNV |
PPARD:NM_001171820:exon4:c.C195T:p.N65N,PPARD:NM_001171819:exon5:c.C372T:p.N124N,PPARD:NM_006238:exon6:c.C489T:p.N163N,PPARD:NM_177435:exon6:c.C489T:p.N163N,PPARD:NM_001171818:exon7:c.C489T:p.N163N |
RS2076167 |
Fasting
insulin:HOMA-IR:HOMA-B:Total cholesterol:LDL cholesterol:Height:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Adiponectin levels |
|
6 |
35423662 |
2 |
FANCE |
A |
C |
exonic |
synonymous SNV |
FANCE:NM_021922:exon2:c.A387C:p.P129P |
|
6 |
36098410 |
2 |
MAPK13 |
A |
C |
exonic |
synonymous SNV |
MAPK13:NM_002754:exon1:c.A51C:p.T17T |
RS1059227 |
Height:Gene expression of MAPK13 in
normal prepouch ileum |
|
6 |
36446975 |
1 |
KCTD20 |
G |
C |
exonic |
nonsynonymous SNV |
KCTD20:NM_001286580:exon3:c.G77C:p.S26T,KCTD20:NM_173562:exon4:c.G512C:p.S171T |
RS2239808 |
Simpson-Angus Scale:Barnes
Akathisia Rating Scale:Fasting blood glucose:Total cholesterol:Height |
|
6 |
37138220 |
1 |
PIM1 |
C |
G |
exonic |
nonsynonymous SNV |
PIM1:NM_001243186:exon1:c.C142G:p.H48D |
|
6 |
37250112 |
2 |
TBC1D22B |
A |
G |
exonic |
synonymous SNV |
TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q |
RS195753 |
2 hour glucose:Total
cholesterol:Rheumatoid arthritis:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
37252210 |
1 |
TBC1D22B |
C |
T |
exonic |
synonymous SNV |
TBC1D22B:NM_017772:exon6:c.C771T:p.N257N |
RS3818136 |
Total cholesterol:Triglycerides
change with statins:Rheumatoid arthritis:Transmission distortion |
|
6 |
37349033 |
1 |
RNF8 |
G |
A |
exonic |
synonymous SNV |
RNF8:NM_003958:exon7:c.G1344A:p.T448T |
RS2284922 |
Fasting blood glucose:Triglycerides
change with statins:Chronic kidney disease:Serum creatinine:Gene expression
of RNF8 in CD4+ lymphocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin
levels:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Birth weight:Advanced age-related macular degeneration |
|
6 |
38650628 |
1 |
GLO1 |
T |
G |
exonic |
nonsynonymous SNV |
GLO1:NM_006708:exon4:c.A332C:p.E111A |
RS4746 |
Gene expression of GLO1 in normal
prepouch ileum:Years of education |
|
6 |
39933339 |
2 |
|
6 |
40998141 |
2 |
UNC5CL |
G |
A |
exonic |
synonymous SNV |
UNC5CL:NM_173561:exon8:c.C1320T:p.C440C |
RS736795 |
Body mass index (BMI):Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
APOBEC2 in normal prepouch ileum |
|
6 |
41533579 |
1 |
FOXP4 |
C |
A |
exonic |
synonymous SNV |
FOXP4:NM_001012426:exon2:c.C81A:p.A27A,FOXP4:NM_001012427:exon2:c.C81A:p.A27A,FOXP4:NM_138457:exon2:c.C81A:p.A27A |
RS2104506 |
Cystatin C in serum:Rheumatoid
arthritis:Adiponectin levels:Refractive error |
|
6 |
41652514 |
1 |
TFEB |
C |
T |
exonic |
synonymous SNV |
TFEB:NM_001271943:exon8:c.G999A:p.A333A,TFEB:NM_001167827:exon9:c.G1296A:p.A432A,TFEB:NM_001271944:exon9:c.G1254A:p.A418A,TFEB:NM_001271945:exon9:c.G1254A:p.A418A,TFEB:NM_007162:exon10:c.G1254A:p.A418A |
|
6 |
41652604 |
1 |
TFEB |
T |
C |
exonic |
synonymous SNV |
TFEB:NM_001271943:exon8:c.A909G:p.P303P,TFEB:NM_001167827:exon9:c.A1206G:p.P402P,TFEB:NM_001271944:exon9:c.A1164G:p.P388P,TFEB:NM_001271945:exon9:c.A1164G:p.P388P,TFEB:NM_007162:exon10:c.A1164G:p.P388P |
|
6 |
41895150 |
1 |
BYSL |
G |
A |
exonic |
nonsynonymous SNV |
BYSL:NM_004053:exon2:c.G307A:p.E103K |
RS2296916 |
Irritible bowel syndrome:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
6 |
41900406 |
1 |
BYSL |
C |
T |
exonic |
nonsynonymous SNV |
BYSL:NM_004053:exon7:c.C1276T:p.P426S |
RS3828855 |
Irritible bowel syndrome:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
6 |
42110171 |
1 |
C6orf132 |
C |
G |
exonic |
nonsynonymous SNV |
C6orf132:NM_001164446:exon1:c.G12C:p.K4N |
|
6 |
42532102 |
2 |
UBR2 |
C |
T |
exonic |
synonymous SNV |
UBR2:NM_001184801:exon1:c.C45T:p.S15S,UBR2:NM_015255:exon1:c.C45T:p.S15S |
RS3749897 |
LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration |
|
6 |
42600319 |
2 |
UBR2 |
A |
G |
exonic |
synonymous SNV |
UBR2:NM_015255:exon12:c.A1311G:p.L437L |
RS5014584 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
42627430 |
1 |
UBR2 |
C |
T |
exonic |
synonymous SNV |
UBR2:NM_015255:exon30:c.C3279T:p.G1093G |
|
6 |
42627434 |
2 |
UBR2 |
G |
A |
exonic |
nonsynonymous SNV |
UBR2:NM_015255:exon30:c.G3283A:p.A1095T |
RS6917033 |
LDL
cholesterol:Triglycerides:Rheumatoid arthritis:Late onset Alzheimer's
disease:Systolic blood pressure (SBP):Gene expression of PRPH2 (probeID
ILMN_1807610) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PRPH2 (probeID ILMN_1807610) in temporal cortex in Alzheimer's
disease cases and controls:Salmonella-induced pyroptosis |
|
6 |
42713618 |
2 |
TBCC |
A |
G |
exonic |
nonsynonymous SNV |
TBCC:NM_003192:exon1:c.T194C:p.V65A |
RS2234026 |
Total cholesterol:Infant head
circumference:Aortic valve calcium |
|
6 |
43014298 |
2 |
CUL7 |
T |
C |
exonic |
synonymous SNV |
CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q |
|
6 |
43014299 |
2 |
CUL7 |
T |
C |
exonic |
nonsynonymous SNV |
CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R |
|
6 |
43029288 |
1 |
KLC4 |
G |
A |
exonic |
nonsynonymous SNV |
KLC4:NM_001289034:exon2:c.G215A:p.R72H,KLC4:NM_001289035:exon2:c.G215A:p.R72H,KLC4:NM_138343:exon2:c.G215A:p.R72H,KLC4:NM_201521:exon2:c.G215A:p.R72H,KLC4:NM_201523:exon2:c.G269A:p.R90H,KLC4:NM_201522:exon3:c.G215A:p.R72H |
RS11558979 |
Birth weight |
|
6 |
43039951 |
1 |
KLC4 |
T |
C |
exonic |
synonymous SNV |
KLC4:NM_001289035:exon11:c.T1215C:p.A405A,KLC4:NM_001289034:exon12:c.T1446C:p.A482A,KLC4:NM_201521:exon12:c.T1446C:p.A482A,KLC4:NM_201523:exon12:c.T1500C:p.A500A,KLC4:NM_201522:exon13:c.T1446C:p.A482A |
|
6 |
43112267 |
1 |
PTK7 |
C |
T |
exonic |
nonsynonymous SNV |
PTK7:NM_152881:exon12:c.C1940T:p.A647V,PTK7:NM_152880:exon14:c.C2210T:p.A737V,PTK7:NM_152882:exon14:c.C2162T:p.A721V,PTK7:NM_001270398:exon15:c.C2354T:p.A785V,PTK7:NM_002821:exon15:c.C2330T:p.A777V |
|
6 |
43154091 |
2 |
CUL9 |
C |
G |
exonic |
synonymous SNV |
CUL9:NM_015089:exon4:c.C1149G:p.L383L |
|
6 |
43184132 |
1 |
CUL9 |
A |
C |
exonic |
nonsynonymous SNV |
CUL9:NM_015089:exon31:c.A6173C:p.H2058P |
RS2273709 |
Stabilized warfarin
dose:Schizophrenia:Schizophrenia:Autism with high IQ:Height:Waist hip
ratio:Gene expression of CUL9 [transcript NM_015089, probe A_23_P311740] in
liver:Schizophrenia:Gene expression of RP3-330M21.3 in blood:Obesity with
early age of onset (age >2):Refractive error:Psychosis:Gene expression of
CRIP3 (ENSG00000146215) in dendritic cells:Primary rhegmatogenous retinal
detachment |
|
6 |
43270097 |
2 |
SLC22A7 |
T |
C |
exonic |
synonymous SNV |
SLC22A7:NM_006672:exon7:c.T1215C:p.A405A,SLC22A7:NM_153320:exon7:c.T1221C:p.A407A |
|
6 |
43306346 |
2 |
ZNF318 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF318:NM_014345:exon10:c.T5390C:p.V1797A |
RS1459675 |
Cystatin C in serum:Urinary
albumin-to-creatinine ratio |
|
6 |
43307861 |
1 |
ZNF318 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF318:NM_014345:exon10:c.C3875T:p.T1292I |
RS10948072 |
Height:Gene expression of ZNF318 in
blood:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol
dependence |
|
6 |
43418691 |
1 |
DLK2 |
G |
A |
exonic |
synonymous SNV |
DLK2:NM_001286655:exon6:c.C627T:p.T209T,DLK2:NM_001286656:exon6:c.C720T:p.T240T,DLK2:NM_023932:exon6:c.C738T:p.T246T,DLK2:NM_206539:exon6:c.C738T:p.T246T |
RS1214748 |
Eye color:Gene expression of TJAP1
in CD4+ lymphocytes:Gene expression of DLK2 in CD4+
lymphocytes:Height:Urinary albumin-to-creatinine ratio:Gene expression of
ABCC10///EGFL9 in blood |
|
6 |
43418733 |
1 |
DLK2 |
G |
A |
exonic |
synonymous SNV |
DLK2:NM_001286655:exon6:c.C585T:p.H195H,DLK2:NM_001286656:exon6:c.C678T:p.H226H,DLK2:NM_023932:exon6:c.C696T:p.H232H,DLK2:NM_206539:exon6:c.C696T:p.H232H |
|
6 |
43535018 |
1 |
XPO5 |
C |
T |
exonic |
nonsynonymous SNV |
XPO5:NM_020750:exon7:c.G722A:p.S241N |
RS34324334 |
Birth weight |
|
6 |
44218120 |
2 |
HSP90AB1 |
A |
G |
exonic |
synonymous SNV |
HSP90AB1:NM_001271969:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271970:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271971:exon6:c.A597G:p.K199K,HSP90AB1:NM_001271972:exon6:c.A711G:p.K237K,HSP90AB1:NM_007355:exon6:c.A741G:p.K247K |
RS13296 |
Fasting insulin:Birth weight |
|
6 |
44223010 |
2 |
SLC35B2 |
G |
T |
exonic |
synonymous SNV |
SLC35B2:NM_001286519:exon2:c.C333A:p.T111T,SLC35B2:NM_001286513:exon3:c.C453A:p.T151T,SLC35B2:NM_001286517:exon3:c.C417A:p.T139T,SLC35B2:NM_001286509:exon4:c.C717A:p.T239T,SLC35B2:NM_001286510:exon4:c.C717A:p.T239T,SLC35B2:NM_001286511:exon4:c.C585A:p.T195T,SLC35B2:NM_001286512:exon4:c.C585A:p.T195T,SLC35B2:NM_001286520:exon4:c.C333A:p.T111T,SLC35B2:NM_178148:exon4:c.C732A:p.T244T |
RS1875324 |
Gene expression of NFKBIE [probe
2955076] in brain cortex:Gene expression of SLC35B2///NFKBIE in blood:Primary
rhegmatogenous retinal detachment:Gene expression change of LOC441151
(ENSG00000178233) in dendritic cells after treatment with Mycobacterium tuberculosis |
|
6 |
44233216 |
1 |
NFKBIE |
G |
C |
exonic |
nonsynonymous SNV |
NFKBIE:NM_004556:exon1:c.C285G:p.H95Q |
|
6 |
44268371 |
2 |
AARS2 |
T |
C |
exonic |
synonymous SNV |
AARS2:NM_020745:exon22:c.A2871G:p.S957S |
RS325008 |
Total cholesterol:Salmonella-induced
pyroptosis:Aortic valve calcium:Refractive error |
|
6 |
44275011 |
2 |
AARS2 |
T |
C |
exonic |
nonsynonymous SNV |
AARS2:NM_020745:exon6:c.A1015G:p.I339V |
RS324136 |
Total cholesterol:Aortic valve
calcium |
|
6 |
44371714 |
1 |
CDC5L |
C |
T |
exonic |
synonymous SNV |
CDC5L:NM_001253:exon6:c.C708T:p.D236D |
RS6934058 |
Simpson-Angus Scale:Total
cholesterol:Total cholesterol change with statins:LDL cholesterol:College
completion |
|
6 |
44413463 |
1 |
CDC5L |
T |
A |
exonic |
synonymous SNV |
CDC5L:NM_001253:exon15:c.T2163A:p.L721L |
RS2273666 |
Total cholesterol:Infant head
circumference |
|
6 |
46802370 |
2 |
MEP1A |
G |
A |
exonic |
synonymous SNV |
MEP1A:NM_005588:exon12:c.G1665A:p.T555T |
RS4714952 |
Cystatin C in serum:Acute lung
injury following major trauma:Aortic valve calcium |
|
6 |
46803102 |
1 |
MEP1A |
A |
G |
exonic |
nonsynonymous SNV |
MEP1A:NM_005588:exon13:c.A1900G:p.M634V |
RS2297019 |
Fasting blood glucose:Diabetic
retinopathy in Type 2 diabetes mellitus:Acute lung injury following major
trauma |
|
6 |
47563692 |
2 |
CD2AP |
C |
T |
exonic |
synonymous SNV |
CD2AP:NM_012120:exon12:c.C1204T:p.L402L |
|
6 |
47847179 |
2 |
PTCHD4 |
A |
G |
exonic |
synonymous SNV |
PTCHD4:NM_001013732:exon3:c.T1401C:p.V467V |
|
6 |
47847401 |
2 |
PTCHD4 |
A |
G |
exonic |
synonymous SNV |
PTCHD4:NM_001013732:exon3:c.T1179C:p.A393A |
|
6 |
48888074 |
2 |
|
6 |
49459978 |
2 |
CENPQ |
A |
G |
exonic |
nonsynonymous SNV |
CENPQ:NM_018132:exon9:c.A797G:p.D266G |
RS2501968 |
Spine bone mineral density
(BMD):Gene expression of C6orf139 [probe ILMN_1747] in
osteoblasts:HOMA-IR:Fasting insulin:HOMA-B:Gene expression of CENPQ in CD4+
lymphocytes:Neuroblastoma (brain cancer):Gene expression of C6orf139 [probe
ILMN_1747] in untreated osteoblasts:Gene expression of C6orf139 [probe
ILMN_1747] in osteoblasts treated with PGE2:Gene expression of C6orf139
[probe ILMN_1747] in osteoblasts treated with BMP2:Gene expression of
C6orf139 [probe ILMN_1747] in osteoblasts treated with dexamethasone:Gene
expression of CENPQ [transcript NM_018132, probe A_23_P70328] in liver:Gene
expression of CENPQ [probeset 219294_at] in sputum:Gene expression of CENPQ
in liver:Gene expression of CENPQ (probeID ILMN_1670769) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of CENPQ (probeID
ILMN_1670769) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MUT in normal prepouch ileum:Gene expression of CENPQ (probeID
ILMN_1670769) in temporal cortex in Progressive Supranuclear Palsy
cases:Birth weight:Gene expression of CENPQ (probeID ILMN_1670769) in
cerebellum in Alzheimer's disease cases:Gene expression of CENPQ (probeID
ILMN_1670769) in temporal cortex in Alzheimer's disease cases:Gene expression
of CENPQ (probeID ILMN_1670769) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of CENPQ (probeID ILMN_1670769) in
cerebellum in non-Alzheimer's disease samples |
|
6 |
52129484 |
1 |
MCM3 |
C |
T |
exonic |
nonsynonymous SNV |
MCM3:NM_001270472:exon16:c.G2359A:p.E787K,MCM3:NM_002388:exon17:c.G2464A:p.E822K |
RS2230240 |
Triglycerides:LDL cholesterol:2
hour glucose:HOMA-B:Lp-PLA2 mass:HDL cholesterol:Gene expression of MCM3 in
blood:Gene expression of PAQR8 in blood:Gene expression of MCM3
(ENSG00000112118) in dendritic cells treated with Mycobacterium
tuberculosis:Tetrology of fallot:Gene expression change of MCM3
(ENSG00000112118) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
6 |
52658962 |
1 |
GSTA1 |
T |
C |
exonic |
synonymous SNV |
GSTA1:NM_001319059:exon4:c.A96G:p.K32K,GSTA1:NM_145740:exon5:c.A375G:p.K125K |
|
6 |
53764649 |
1 |
LRRC1 |
C |
T |
exonic |
synonymous SNV |
LRRC1:NM_018214:exon8:c.C747T:p.V249V |
|
6 |
56417282 |
1 |
DST |
C |
T |
exonic |
nonsynonymous SNV |
DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I |
RS4715630 |
Asthma:Waist hip ratio:Mitral
annular calcium:Hypertension (early onset hypertension):Tetrology of fallot |
|
6 |
56417545 |
1 |
DST |
T |
C |
exonic |
nonsynonymous SNV |
DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A |
RS4715631 |
Total cholesterol change with
statins:Asthma:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral
annular calcium |
|
6 |
56463410 |
2 |
DST |
T |
C |
exonic |
nonsynonymous SNV |
DST:NM_015548:exon27:c.A3923G:p.Q1308R,DST:NM_183380:exon37:c.A4901G:p.Q1634R,DST:NM_001144770:exon38:c.A5021G:p.Q1674R,DST:NM_001144769:exon40:c.A5435G:p.Q1812R |
RS4712138 |
Waist hip ratio:Infant head
circumference:Adiponectin levels:Advanced age-related macular degeneration
(geographic atrophy) |
|
6 |
56484758 |
2 |
DST |
C |
T |
exonic |
synonymous SNV |
DST:NM_001723:exon23:c.G4074A:p.K1358K |
RS2230862 |
LDL cholesterol:Adiponectin
levels:Advanced age-related macular degeneration |
|
6 |
56917520 |
1 |
KIAA1586 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA1586:NM_001286274:exon3:c.T142C:p.F48L,KIAA1586:NM_001286275:exon4:c.T22C:p.F8L,KIAA1586:NM_001286276:exon4:c.T22C:p.F8L,KIAA1586:NM_020931:exon4:c.T223C:p.F75L |
|
6 |
57393125 |
2 |
PRIM2 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS927192 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
6 |
57398201 |
2 |
PRIM2 |
T |
C |
exonic |
unknown |
UNKNOWN |
RS62398997 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
6 |
57398226 |
2 |
PRIM2 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
6 |
57398264 |
2 |
PRIM2 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
6 |
57467100 |
2 |
PRIM2 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
6 |
57467175 |
2 |
PRIM2 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
6 |
57512510 |
2 |
PRIM2 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
6 |
57512565 |
2 |
PRIM2 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
6 |
57512678 |
2 |
PRIM2 |
G |
A |
exonic |
unknown |
UNKNOWN |
|
6 |
71238105 |
2 |
FAM135A |
A |
G |
exonic |
nonsynonymous SNV |
FAM135A:NM_001331000:exon14:c.A3038G:p.D1013G,FAM135A:NM_001331005:exon14:c.A3626G:p.D1209G,FAM135A:NM_001330997:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331001:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331004:exon15:c.A2450G:p.D817G,FAM135A:NM_001351600:exon15:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G,FAM135A:NM_001162529:exon16:c.A3725G:p.D1242G,FAM135A:NM_001330996:exon16:c.A3803G:p.D1268G,FAM135A:NM_001331002:exon16:c.A3137G:p.D1046G,FAM135A:NM_001351599:exon16:c.A3803G:p.D1268G,FAM135A:NM_001351602:exon16:c.A3725G:p.D1242G,FAM135A:NM_001351608:exon16:c.A2879G:p.D960G,FAM135A:NM_001330995:exon17:c.A2465G:p.D822G,FAM135A:NM_001330998:exon17:c.A3215G:p.D1072G,FAM135A:NM_001330999:exon17:c.A3803G:p.D1268G,FAM135A:NM_001331003:exon17:c.A3215G:p.D1072G,FAM135A:NM_001351607:exon17:c.A3725G:p.D1242G,FAM135A:NM_001331006:exon18:c.A2543G:p.D848G,FAM135A:NM_001351609:exon18:c.A2285G:p.D762G |
RS2747701 |
Hip bone mineral density (BMD):LDL
cholesterol:Triglycerides:Diastolic blood pressure (DBP):Salmonella-induced
pyroptosis:Parkinson's disease |
|
6 |
74190448 |
2 |
MTO1 |
T |
C |
exonic |
synonymous SNV |
MTO1:NM_001123226:exon7:c.T1180C:p.L394L,MTO1:NM_012123:exon7:c.T1180C:p.L394L,MTO1:NM_133645:exon8:c.T1255C:p.L419L |
RS2036039 |
Birth weight |
|
6 |
74497009 |
2 |
CD109 |
A |
G |
exonic |
nonsynonymous SNV |
CD109:NM_001159588:exon20:c.A2159G:p.N720S,CD109:NM_001159587:exon21:c.A2390G:p.N797S,CD109:NM_133493:exon21:c.A2390G:p.N797S |
RS2351528 |
Partial epilepsy:Variant
Creutzfeldt-Jakob disease:Q6YHK3 protein abundance levels:Adiponectin levels |
|
6 |
76369054 |
2 |
SENP6 |
A |
G |
exonic |
synonymous SNV |
SENP6:NM_001100409:exon7:c.A606G:p.R202R,SENP6:NM_001304792:exon7:c.A606G:p.R202R,SENP6:NM_015571:exon8:c.A627G:p.R209R |
|
6 |
79656562 |
2 |
PHIP |
A |
T |
exonic |
synonymous SNV |
PHIP:NM_017934:exon37:c.T4236A:p.A1412A |
RS2275291 |
HDL cholesterol change with
statins:HDL cholesterol:Aortic valve calcium |
|
6 |
79656570 |
2 |
PHIP |
G |
A |
exonic |
synonymous SNV |
PHIP:NM_017934:exon37:c.C4228T:p.L1410L |
RS2275290 |
Eye color:Arthritis including
non-Rheumatoid:Differential exon level expression of PHIP [probe 2961826] in
brain cortex:Differential exon level expression of PHIP [probe 2961826] in
peripheral blood mononuclear cells:HDL cholesterol change with statins:HDL
cholesterol:Waist hip ratio:Gene expression of PHIP in blood:Gene expression
of RP11-173D14.1 in blood:Aortic valve calcium:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
6 |
79688366 |
2 |
PHIP |
T |
C |
exonic |
synonymous SNV |
PHIP:NM_017934:exon24:c.A2832G:p.T944T |
RS12209235 |
Fasting blood glucose:HDL
cholesterol change with statins:Serum soluble transferrin receptor:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
6 |
86199233 |
2 |
NT5E |
A |
G |
exonic |
nonsynonymous SNV |
NT5E:NM_001204813:exon6:c.A1126G:p.T376A,NT5E:NM_002526:exon6:c.A1126G:p.T376A |
RS386586969 |
Comorbid depressive syndrome and
alcohol dependence:College completion:Mitral annular calcium:Tetrology of
fallot:Years of education:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Obesity with early age of onset (age >2):Prostate
cancer |
|
6 |
87965528 |
2 |
ZNF292 |
T |
C |
exonic |
synonymous SNV |
ZNF292:NM_015021:exon8:c.T2181C:p.C727C,ZNF292:NM_001351444:exon9:c.T1761C:p.C587C |
RS6908834 |
Gene expression of Hs.485895 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C6orf162 [probe
213314_at] in lymphoblastoid cell lines:Nicotine dependence (smoking):Gene
expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323)
in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum
in non-Alzheimer's disease samples:Gene expression of C6orf162 (probeID
ILMN_1693323) in cerebellum in Alzheimer's disease cases:Gene expression of
C6orf162 (probeID ILMN_2413141) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of C6orf163 in normal prepouch ileum:Gene
expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C6orf162 (probeID ILMN_1693323)
in temporal cortex in Alzheimer's disease cases:Gene expression of C6orf162
(probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases and
controls |
|
6 |
87968565 |
2 |
ZNF292 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF292:NM_015021:exon8:c.A5218G:p.I1740V,ZNF292:NM_001351444:exon9:c.A4798G:p.I1600V |
RS9362415 |
Gene expression of Hs.485895 in
CEU-CHB-JPT lymphoblastoid cell lines:Premature ovarian failure:Lp-PLA2
activity:Body mass index (BMI):Gene expression of C6orf162 (probeID
ILMN_2413141) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of C6orf162 in normal prepouch ileum:Gene expression
of C6orf162 (probeID ILMN_2413141) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323)
in cerebellum in non-Alzheimer's disease samples:Gene expression of C6orf163
in normal prepouch ileum:Gene expression of C6orf162 (probeID ILMN_2413141)
in cerebellum in Alzheimer's disease cases:Gene expression of C6orf162
(probeID ILMN_2413141) in cerebellum in non-Alzheimer's disease samples:Gene expression
of C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of C6orf162
(probeID ILMN_2413141) in temporal cortex in Alzheimer's disease cases:Gene
expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in
Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_1693323)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of C6orf162 (probeID ILMN_2413141) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease
cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex
in Progressive Supranuclear Palsy cases |
|
6 |
87969480 |
2 |
ZNF292 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF292:NM_015021:exon8:c.G6133A:p.V2045I,ZNF292:NM_001351444:exon9:c.G5713A:p.V1905I |
RS6910541 |
Schizophrenia:HDL cholesterol:Height |
|
6 |
87970301 |
2 |
ZNF292 |
C |
G |
exonic |
synonymous SNV |
ZNF292:NM_015021:exon8:c.C6954G:p.T2318T,ZNF292:NM_001351444:exon9:c.C6534G:p.T2178T |
RS3812132 |
Gene expression of C6orf162
(probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of C6orf162 (probeID ILMN_2413141) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of C6orf162
(probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in
Alzheimer's disease cases and controls |
|
6 |
90039670 |
2 |
UBE2J1 |
G |
C |
exonic |
nonsynonymous SNV |
UBE2J1:NM_016021:exon8:c.C685G:p.L229V |
RS10502 |
HOMA-B:Fasting blood glucose:Lp-PLA2
activity:PROP taste detection threshold |
|
6 |
90371202 |
2 |
MDN1 |
G |
A |
exonic |
synonymous SNV |
MDN1:NM_014611:exon88:c.C14661T:p.L4887L |
RS9444701 |
Hip bone mineral density
(BMD):Schizophrenia:Chronic kidney disease:Rheumatoid arthritis:Body mass
index (BMI):Sporadic Creutzfeldt-Jakob disease:Variant Creutzfeldt-Jakob
disease:College completion |
|
6 |
90390443 |
2 |
MDN1 |
C |
A |
exonic |
nonsynonymous SNV |
MDN1:NM_014611:exon74:c.G12130T:p.A4044S |
RS9353689 |
Differential exon level expression
of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol change with
statins:Partial epilepsy:HDL cholesterol:Gene expression of LYRM2 [probeset
227797_x_at] in sputum:Age at death with kuru exposure:Sporadic Creutzfeldt-Jakob
disease:Variant Creutzfeldt-Jakob disease |
|
6 |
90402482 |
2 |
MDN1 |
G |
A |
exonic |
nonsynonymous SNV |
MDN1:NM_014611:exon63:c.C10267T:p.H3423Y |
RS9294445 |
Hip bone mineral density
(BMD):Differential exon level expression of ANKRD6 [probe 2916863] in brain
cortex:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Hepatitis C virus
(HCV)-induced liver fibrosis |
|
6 |
90402840 |
2 |
MDN1 |
C |
G |
exonic |
synonymous SNV |
MDN1:NM_014611:exon63:c.G9909C:p.L3303L |
RS9351212 |
Chronic kidney disease:Rheumatoid
arthritis |
|
6 |
90448092 |
2 |
MDN1 |
C |
T |
exonic |
nonsynonymous SNV |
MDN1:NM_014611:exon33:c.G4676A:p.S1559N |
RS4140446 |
Schizophrenia:Differential exon
level expression of MDN1 [probe 2964449] in peripheral blood mononuclear
cells:Differential exon level expression of MDN1 [probe 2964482] in brain
cortex:Chronic kidney disease:Rheumatoid arthritis:Gene expression of MDN1 (ENSG00000112159)
in dendritic cells treated with Mycobacterium tuberculosis |
|
6 |
90482397 |
2 |
MDN1 |
T |
C |
exonic |
nonsynonymous SNV |
MDN1:NM_014611:exon14:c.A1978G:p.I660V |
RS12110451 |
HDL
cholesterol:Triglycerides:Schizophrenia:HOMA-B:Serum creatinine:Chronic
kidney disease:HDL cholesterol:Pulse pressure:Tetrology of
fallot:Salmonella-induced pyroptosis:Tourette's syndrome |
|
6 |
96999725 |
2 |
UFL1 |
C |
T |
exonic |
synonymous SNV |
UFL1:NM_015323:exon17:c.C1911T:p.D637D |
RS1127175 |
Systolic blood pressure (SBP) |
|
6 |
97339078 |
2 |
NDUFAF4 |
A |
G |
exonic |
synonymous SNV |
NDUFAF4:NM_014165:exon3:c.T430C:p.L144L |
RS6684 |
Gene expression of GPR63 in CHB-JPT
lymphoblastoid cell lines:Gene expression of GPR63 [probe 220993_s_at] in
lymphoblastoid cell lines:Gene expression of probe 227559_at in
lymphoblastoid cell lines:Fasting blood glucose:Severe diabetic
retinopathy:Gene expression of NDUFAF4 in normal prepouch ileum |
|
6 |
97339088 |
2 |
NDUFAF4 |
C |
T |
exonic |
synonymous SNV |
NDUFAF4:NM_014165:exon3:c.G420A:p.Q140Q |
RS11402 |
Gene expression of NDUFAF4
[transcript NM_014165, probe A_24_P171983] in liver:PROP taste detection
threshold:Gene expression of NDUFAF4 in normal prepouch ileum |
|
6 |
97613163 |
2 |
MMS22L |
T |
C |
exonic |
synonymous SNV |
MMS22L:NM_001350600:exon20:c.A2331G:p.P777P,MMS22L:NM_001350599:exon21:c.A3180G:p.P1060P,MMS22L:NM_198468:exon21:c.A3180G:p.P1060P |
RS1209290 |
Body mass index (BMI) |
|
6 |
97626374 |
2 |
MMS22L |
A |
G |
exonic |
nonsynonymous SNV |
MMS22L:NM_001350600:exon17:c.T1775C:p.V592A,MMS22L:NM_001350599:exon18:c.T2624C:p.V875A,MMS22L:NM_198468:exon18:c.T2624C:p.V875A |
RS1737145 |
Abnormal Involuntary Movement
Scale:Cardiac neonatal lupus:Body mass index (BMI):Gene expression of
C6orf167 [probe ILMN_10450] in osteoblasts treated with dexamethasone |
|
6 |
97677118 |
2 |
MMS22L |
G |
A |
exonic |
nonsynonymous SNV |
MMS22L:NM_001350600:exon13:c.C842T:p.T281M,MMS22L:NM_001350599:exon14:c.C1691T:p.T564M,MMS22L:NM_198468:exon14:c.C1691T:p.T564M |
RS9481410 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale:Tardive dyskinesia:Rheumatoid arthritis |
|
6 |
99817601 |
2 |
COQ3 |
A |
G |
exonic |
nonsynonymous SNV |
COQ3:NM_017421:exon7:c.T985C:p.Y329H |
|
6 |
99819379 |
2 |
COQ3 |
T |
C |
exonic |
nonsynonymous SNV |
COQ3:NM_017421:exon6:c.A814G:p.S272G |
RS6925344 |
Cystatin C in serum:Adiponectin
levels |
|
6 |
99894086 |
2 |
USP45 |
C |
G |
exonic |
nonsynonymous SNV |
USP45:NM_001346024:exon12:c.G1388C:p.R463T,USP45:NM_001346025:exon12:c.G1385C:p.R462T,USP45:NM_001346028:exon13:c.G482C:p.R161T,USP45:NM_001080481:exon14:c.G1562C:p.R521T,USP45:NM_001346021:exon14:c.G1562C:p.R521T,USP45:NM_001346022:exon14:c.G1562C:p.R521T,USP45:NM_001346023:exon14:c.G1559C:p.R520T,USP45:NM_001346026:exon14:c.G1562C:p.R521T,USP45:NM_001346027:exon14:c.G482C:p.R161T,USP45:NM_001346029:exon14:c.G482C:p.R161T |
|
6 |
100964147 |
2 |
ASCC3 |
G |
C |
exonic |
nonsynonymous SNV |
ASCC3:NM_006828:exon39:c.C5984G:p.S1995C |
RS240780 |
Rheumatoid arthritis:LDL
cholesterol:Total cholesterol |
|
6 |
101049748 |
2 |
ASCC3 |
C |
T |
exonic |
synonymous SNV |
ASCC3:NM_006828:exon34:c.G5241A:p.K1747K |
|
6 |
101094554 |
2 |
ASCC3 |
A |
G |
exonic |
synonymous SNV |
ASCC3:NM_006828:exon22:c.T3570C:p.P1190P |
RS239239 |
Cystatin C in serum:Rheumatoid
arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure
(DBP):Mitral annular calcium:Obesity with early age of onset (age >2) |
|
6 |
101100745 |
2 |
ASCC3 |
C |
T |
exonic |
synonymous SNV |
ASCC3:NM_006828:exon18:c.G2844A:p.K948K |
|
6 |
106200202 |
2 |
|
6 |
106987370 |
2 |
CRYBG1 |
A |
C |
exonic |
nonsynonymous SNV |
CRYBG1:NM_001624:exon7:c.A3587C:p.E1196A |
RS783396 |
Ischemic stroke:LDL
cholesterol:Total cholesterol:LDL cholesterol:Gene expression of AIM1 in
blood:Mitral annular calcium |
|
6 |
106992464 |
2 |
CRYBG1 |
A |
G |
exonic |
synonymous SNV |
CRYBG1:NM_001624:exon10:c.A3834G:p.K1278K |
RS1799693 |
Mitral annular calcium |
|
6 |
106999822 |
2 |
CRYBG1 |
G |
A |
exonic |
nonsynonymous SNV |
CRYBG1:NM_001624:exon12:c.G4184A:p.C1395Y |
RS2297970 |
Gene expression of QRSL1 in normal
prepouch ileum:Gene expression of QRSL1 (probeID ILMN_1733364) in temporal
cortex in Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Gene expression of QRSL1 (probeID
ILMN_1733364) in cerebellum in Alzheimer's disease cases and controls |
|
6 |
107113715 |
2 |
QRSL1 |
G |
A |
exonic |
synonymous SNV |
QRSL1:NM_018292:exon11:c.G1425A:p.L475L |
RS2015205 |
Gene expression of QRSL1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of QRSL1 [probe
218948_at] in lymphoblastoid cell lines:Comorbid depressive syndrome and
alcohol dependence:Gene expression of QRSL1 (probeID ILMN_1733364) in
temporal cortex in Alzheimer's disease cases and controls:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
QRSL1 in normal prepouch ileum:Gene expression of QRSL1 (probeID
ILMN_1733364) in cerebellum in Alzheimer's disease cases and controls |
|
6 |
107391396 |
2 |
BEND3 |
G |
A |
exonic |
synonymous SNV |
BEND3:NM_001080450:exon5:c.C999T:p.N333N |
RS3814073 |
LDL cholesterol:Recurrent early
onset major depressive disorder (females):Recurrent early onset major
depressive disorder (males):LDL cholesterol change with statins |
|
6 |
111587266 |
2 |
MFSD4B |
T |
C |
exonic |
synonymous SNV |
MFSD4B:NM_153369:exon4:c.T501C:p.D167D |
RS11153279 |
Irritible bowel
syndrome:Triglycerides change with statins:Chronic kidney disease:Refractive
error |
|
6 |
111587310 |
2 |
MFSD4B |
T |
A |
exonic |
stopgain |
MFSD4B:NM_153369:exon4:c.T545A:p.L182X |
|
6 |
111587311 |
2 |
MFSD4B |
A |
T |
exonic |
nonsynonymous SNV |
MFSD4B:NM_153369:exon4:c.A546T:p.L182F |
|
6 |
111695073 |
1 |
REV3L |
C |
T |
exonic |
synonymous SNV |
REV3L:NM_002912:exon14:c.G4485A:p.S1495S,REV3L:NM_001286432:exon15:c.G4251A:p.S1417S,REV3L:NM_001286431:exon16:c.G4251A:p.S1417S |
RS455645 |
Triglycerides change with
statins:Birth weight:Infant head circumference |
|
6 |
111695268 |
1 |
REV3L |
C |
T |
exonic |
synonymous SNV |
REV3L:NM_002912:exon14:c.G4290A:p.V1430V,REV3L:NM_001286432:exon15:c.G4056A:p.V1352V,REV3L:NM_001286431:exon16:c.G4056A:p.V1352V |
RS455732 |
HDL cholesterol:Triglycerides
change with statins:Total cholesterol change with statins:HDL
cholesterol:Serum Phe/Tyr:Birth weight:Serum Tyr/Val:Serum Ala/Tyr |
|
6 |
111696852 |
1 |
REV3L |
T |
C |
exonic |
synonymous SNV |
REV3L:NM_002912:exon14:c.A2706G:p.G902G,REV3L:NM_001286432:exon15:c.A2472G:p.G824G,REV3L:NM_001286431:exon16:c.A2472G:p.G824G |
RS458486 |
HDL cholesterol:Triglycerides
change with statins:Total cholesterol change with statins:Birth weight:Serum
Ala/Tyr:Serum Tyr/Val:Serum Phe/Tyr |
|
6 |
111901453 |
2 |
TRAF3IP2 |
G |
T |
exonic |
nonsynonymous SNV |
TRAF3IP2:NM_001164281:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147686:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147200:exon4:c.C996A:p.H332Q |
RS1043730 |
Height:Urinary albumin-to-creatinine
ratio |
|
6 |
116574455 |
1 |
TSPYL4 |
G |
A |
exonic |
synonymous SNV |
TSPYL4:NM_021648:exon1:c.C717T:p.H239H |
RS2232472 |
Triglycerides:Lung function, forced
expiratory volume in 1 second (FEV1):HDL cholesterol change with
statins:Serum creatinine:Total cholesterol:Triglycerides:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
6 |
116575083 |
1 |
TSPYL4 |
C |
A |
exonic |
nonsynonymous SNV |
TSPYL4:NM_021648:exon1:c.G89T:p.R30L |
RS2232470 |
Triglycerides:Lung function, forced
expiratory volume in 1 second (FEV1):Total cholesterol:Serum
creatinine:Lp-PLA2 activity:Triglycerides:Total cholesterol:LDL
cholesterol:Adiponectin levels:Advanced age-related macular degeneration |
|
6 |
116600774 |
1 |
TSPYL1 |
C |
G |
exonic |
nonsynonymous SNV |
TSPYL1:NM_003309:exon1:c.G220C:p.A74P |
RS3749895 |
Lung function, forced expiratory
volume in 1 second (FEV1):HDL cholesterol change with statins:Total
cholesterol:Triglycerides:Aortic valve calcium |
|
6 |
116600810 |
1 |
TSPYL1 |
G |
A |
exonic |
nonsynonymous SNV |
TSPYL1:NM_003309:exon1:c.C184T:p.P62S |
RS3828743 |
Lung function, forced expiratory
volume in 1 second (FEV1):HDL cholesterol change with statins:Serum
creatinine:Total cholesterol:Triglycerides |
|
6 |
116757557 |
2 |
DSE |
T |
C |
exonic |
synonymous SNV |
DSE:NM_001080976:exon6:c.T1926C:p.N642N,DSE:NM_001322939:exon6:c.T1983C:p.N661N,DSE:NM_001322941:exon6:c.T1365C:p.N455N,DSE:NM_013352:exon6:c.T1926C:p.N642N,DSE:NM_001322937:exon7:c.T1926C:p.N642N,DSE:NM_001322938:exon7:c.T1926C:p.N642N,DSE:NM_001322940:exon7:c.T1365C:p.N455N |
RS560644 |
Salmonella-induced pyroptosis |
|
6 |
119510941 |
2 |
MAN1A1 |
C |
A |
exonic |
synonymous SNV |
MAN1A1:NM_005907:exon10:c.G1434T:p.A478A |
RS2072890 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Allele-specific Expression Patterns in
human glioblastoma cell line U87MG |
|
6 |
119760629 |
2 |
|
6 |
126249914 |
1 |
NCOA7 |
T |
G |
exonic |
nonsynonymous SNV |
NCOA7:NM_001199622:exon6:c.T657G:p.D219E,NCOA7:NM_001199621:exon15:c.T2481G:p.D827E,NCOA7:NM_001122842:exon16:c.T2793G:p.D931E,NCOA7:NM_181782:exon16:c.T2826G:p.D942E,NCOA7:NM_001199619:exon17:c.T2826G:p.D942E,NCOA7:NM_001199620:exon18:c.T2826G:p.D942E |
RS1567 |
Fasting insulin:HOMA-IR:Serum
creatinine:Total cholesterol:LDL cholesterol:Triglycerides:Height:College
completion |
|
6 |
128388799 |
2 |
PTPRK |
G |
T |
exonic |
synonymous SNV |
PTPRK:NM_001291983:exon11:c.C1635A:p.L545L,PTPRK:NM_001135648:exon12:c.C2022A:p.L674L,PTPRK:NM_001291981:exon12:c.C2022A:p.L674L,PTPRK:NM_001291982:exon12:c.C2022A:p.L674L,PTPRK:NM_001291984:exon12:c.C2022A:p.L674L,PTPRK:NM_002844:exon12:c.C2022A:p.L674L |
|
6 |
128403745 |
1 |
PTPRK |
A |
G |
exonic |
synonymous SNV |
PTPRK:NM_001291983:exon9:c.T1227C:p.V409V,PTPRK:NM_001135648:exon10:c.T1614C:p.V538V,PTPRK:NM_001291981:exon10:c.T1614C:p.V538V,PTPRK:NM_001291982:exon10:c.T1614C:p.V538V,PTPRK:NM_001291984:exon10:c.T1614C:p.V538V,PTPRK:NM_002844:exon10:c.T1614C:p.V538V |
RS17828130 |
HDL cholesterol change with
statins:Partial epilepsy:Autism:Tetrology of fallot |
|
6 |
130031215 |
2 |
ARHGAP18 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGAP18:NM_033515:exon1:c.A67G:p.T23A |
RS3752536 |
Stabilized warfarin dose:Arthritis
including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Cystatin C
in serum:Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease |
|
6 |
130454616 |
2 |
L3MBTL3 |
C |
T |
exonic |
synonymous SNV |
L3MBTL3:NM_001007102:exon20:c.C1911T:p.T637T,L3MBTL3:NM_001346550:exon20:c.C1911T:p.T637T,L3MBTL3:NM_001346551:exon20:c.C1911T:p.T637T,L3MBTL3:NM_032438:exon21:c.C1986T:p.T662T |
|
6 |
131148737 |
1 |
SMLR1 |
G |
A |
exonic |
nonsynonymous SNV |
SMLR1:NM_001195597:exon1:c.G184A:p.V62M |
RS1044303 |
Spine bone mineral density
(BMD):Triglycerides:Simpson-Angus Scale:Tetrology of fallot |
|
6 |
131190838 |
1 |
EPB41L2 |
G |
A |
exonic |
synonymous SNV |
EPB41L2:NM_001350320:exon11:c.C1056T:p.P352P,EPB41L2:NM_001350304:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350305:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350306:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350303:exon14:c.C2325T:p.P775P,EPB41L2:NM_001350302:exon15:c.C2472T:p.P824P,EPB41L2:NM_001431:exon15:c.C2472T:p.P824P,EPB41L2:NM_001350299:exon17:c.C2628T:p.P876P,EPB41L2:NM_001350301:exon17:c.C2628T:p.P876P |
RS17059736 |
Isopropanol:Succinate:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
6 |
132172368 |
1 |
ENPP1 |
A |
C |
exonic |
nonsynonymous SNV |
ENPP1:NM_006208:exon4:c.A517C:p.K173Q |
RS1044498 |
Childhood obesity (body mass index
(BMI)):Obesity (body mass index (BMI)):Stroke |
|
6 |
132271952 |
2 |
CTGF |
G |
C |
exonic |
nonsynonymous SNV |
CTGF:NM_001901:exon2:c.C247G:p.H83D |
|
6 |
132271959 |
2 |
CTGF |
T |
G |
exonic |
synonymous SNV |
CTGF:NM_001901:exon2:c.A240C:p.L80L |
|
6 |
132271980 |
2 |
CTGF |
T |
G |
exonic |
synonymous SNV |
CTGF:NM_001901:exon2:c.A219C:p.P73P |
|
6 |
135358567 |
1 |
HBS1L |
T |
G |
exonic |
nonsynonymous SNV |
HBS1L:NM_001145207:exon5:c.A1028C:p.E343A |
RS7742542 |
Gene expression of ALDH8A1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:LDL
cholesterol:Total cholesterol:LDL cholesterol change with statins:Total
cholesterol change with statins:Chronic kidney disease:Total cholesterol:Gene
expression of ALDH8A1 (probeID ILMN_1681938) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ALDH8A1 (probeID ILMN_2365176)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
ALDH8A1 (probeID ILMN_2365176) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of ALDH8A1 (probeID ILMN_1681938) in
temporal cortex in Alzheimer's disease cases and controls:Red blood cell
count (RBC) |
|
6 |
137519588 |
1 |
IFNGR1 |
A |
C |
exonic |
synonymous SNV |
IFNGR1:NM_000416:exon7:c.T1050G:p.S350S |
|
6 |
138196066 |
1 |
TNFAIP3 |
T |
G |
exonic |
nonsynonymous SNV |
TNFAIP3:NM_001270507:exon3:c.T380G:p.F127C,TNFAIP3:NM_001270508:exon3:c.T380G:p.F127C,TNFAIP3:NM_006290:exon3:c.T380G:p.F127C |
RS2230926 |
HDL cholesterol:Systemic lupus
erythematosus (SLE):Systemic lupus erythematosus (SLE):Systemic lupus
erythematosus (SLE):Rheumatoid arthritis:Selective immunoglobulin A
deficiency (IgAD):Systemic lupus erythematosus (SLE):Adiponectin
levels:Systemic lupus erythematosus (SLE) |
|
6 |
138413269 |
2 |
PERP |
A |
G |
exonic |
synonymous SNV |
PERP:NM_022121:exon3:c.T492C:p.I164I |
RS648396 |
Gene expression of PERP in normal
prepouch ileum |
|
6 |
138413333 |
2 |
PERP |
G |
C |
exonic |
nonsynonymous SNV |
PERP:NM_022121:exon3:c.C428G:p.P143R |
|
6 |
138734085 |
1 |
HEBP2 |
G |
A |
exonic |
nonsynonymous SNV |
HEBP2:NM_001326380:exon4:c.G521A:p.R174K,HEBP2:NM_014320:exon4:c.G488A:p.R163K |
|
6 |
138753337 |
1 |
NHSL1 |
C |
T |
exonic |
synonymous SNV |
NHSL1:NM_020464:exon5:c.G2157A:p.K719K,NHSL1:NM_001144060:exon6:c.G2145A:p.K715K |
RS2039121 |
2 hour glucose |
|
6 |
138754323 |
1 |
NHSL1 |
A |
G |
exonic |
synonymous SNV |
NHSL1:NM_020464:exon5:c.T1171C:p.L391L,NHSL1:NM_001144060:exon6:c.T1159C:p.L387L |
RS2327891 |
Coronary artery disease (CAD),
combined control dataset, gender differentiated:LDL
cholesterol:Schizophrenia:2 hour glucose:Cystatin C in serum:Gene expression
of CTNND1 in peripheral blood monocytes:Gene expression of RP3-422G23.1 in
blood:Birth weight:Tetrology of fallot |
|
6 |
139071358 |
1 |
GVQW2 |
T |
A |
exonic |
synonymous SNV |
GVQW2:NM_001242740:exon3:c.A207T:p.S69S |
|
6 |
139695061 |
1 |
CITED2 |
G |
T |
exonic |
synonymous SNV |
CITED2:NM_001168388:exon2:c.C21A:p.A7A,CITED2:NM_001168389:exon2:c.C36A:p.A12A,CITED2:NM_006079:exon2:c.C21A:p.A7A |
|
6 |
142718801 |
2 |
ADGRG6 |
G |
A |
exonic |
synonymous SNV |
ADGRG6:NM_001032394:exon9:c.G1392A:p.L464L,ADGRG6:NM_001032395:exon9:c.G1392A:p.L464L,ADGRG6:NM_020455:exon10:c.G1476A:p.L492L,ADGRG6:NM_198569:exon10:c.G1476A:p.L492L |
RS989946 |
LDL cholesterol |
|
6 |
142758631 |
2 |
ADGRG6 |
A |
G |
exonic |
nonsynonymous SNV |
ADGRG6:NM_001032394:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_001032395:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_020455:exon23:c.A3380G:p.Q1127R,ADGRG6:NM_198569:exon23:c.A3380G:p.Q1127R |
RS1262686 |
LDL cholesterol |
|
6 |
144758799 |
2 |
UTRN |
A |
G |
exonic |
synonymous SNV |
UTRN:NM_007124:exon10:c.A1158G:p.E386E |
RS4895642 |
Birth weight:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
6 |
144999679 |
1 |
UTRN |
A |
G |
exonic |
synonymous SNV |
UTRN:NM_007124:exon51:c.A7617G:p.R2539R |
|
6 |
145051594 |
1 |
UTRN |
G |
A |
exonic |
synonymous SNV |
UTRN:NM_007124:exon53:c.G7911A:p.E2637E |
RS4305737 |
LDL cholesterol:HDL cholesterol |
|
6 |
146127029 |
1 |
FBXO30 |
T |
C |
exonic |
synonymous SNV |
FBXO30:NM_001348092:exon2:c.A513G:p.L171L,FBXO30:NM_032145:exon2:c.A513G:p.L171L |
|
6 |
147680359 |
1 |
STXBP5 |
A |
G |
exonic |
synonymous SNV |
STXBP5:NM_139244:exon21:c.A2337G:p.L779L,STXBP5:NM_001127715:exon23:c.A2445G:p.L815L |
RS9390459 |
von Willebrand factor (vWF) in
plasma:FVIII in plasma:Neuroblastoma (brain cancer):Urinary
albumin-to-creatinine ratio:Microalbuminuria:von Willebrand factor (vWF):Gene
expression of STXBP5 in blood |
|
6 |
148865257 |
2 |
SASH1 |
A |
G |
exonic |
nonsynonymous SNV |
SASH1:NM_001346507:exon11:c.A1934G:p.Q645R,SASH1:NM_001346508:exon11:c.A2423G:p.Q808R,SASH1:NM_001346509:exon11:c.A2300G:p.Q767R,SASH1:NM_001346505:exon18:c.A2516G:p.Q839R,SASH1:NM_015278:exon18:c.A2651G:p.Q884R,SASH1:NM_001346506:exon19:c.A2279G:p.Q760R |
RS208696 |
Hip bone mineral density
(BMD):Stabilized warfarin dose:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
6 |
151336739 |
2 |
MTHFD1L |
C |
G |
exonic |
synonymous SNV |
MTHFD1L:NM_001350490:exon6:c.C372G:p.S124S,MTHFD1L:NM_001242767:exon24:c.C2499G:p.S833S,MTHFD1L:NM_001242768:exon24:c.C2301G:p.S767S,MTHFD1L:NM_001350486:exon24:c.C2298G:p.S766S,MTHFD1L:NM_001350487:exon24:c.C2166G:p.S722S,MTHFD1L:NM_001350492:exon24:c.C2169G:p.S723S,MTHFD1L:NM_001350493:exon24:c.C2169G:p.S723S,MTHFD1L:NM_015440:exon24:c.C2496G:p.S832S |
|
6 |
151669875 |
1 |
AKAP12 |
A |
G |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E |
RS10872670 |
Irritible bowel syndrome:Multiple
sclerosis severity scale:Triglycerides:Differential exon level expression of
AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in
blood:Birth weight:Infant head circumference |
|
6 |
151670897 |
1 |
AKAP12 |
T |
C |
exonic |
synonymous SNV |
AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A |
RS900654 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Triglycerides:Differential exon level
expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of
RP11-108N8.2 in blood:Amyotrophic lateral sclerosis (ALS):Birth weight |
|
6 |
151673074 |
1 |
AKAP12 |
C |
G |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.C3254G:p.P1085R,AKAP12:NM_005100:exon4:c.C3548G:p.P1183R |
|
6 |
151674326 |
1 |
AKAP12 |
A |
C |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D |
RS3823310 |
Rheumatoid
arthritis:Schizophrenia:Differential exon level expression of AKAP12 [probe
2931627] in brain cortex:Breast cancer:Endometriosis |
|
6 |
151686905 |
1 |
ZBTB2 |
C |
T |
exonic |
synonymous SNV |
ZBTB2:NM_020861:exon3:c.G1296A:p.E432E |
|
6 |
151766552 |
1 |
RMND1 |
G |
A |
exonic |
nonsynonymous SNV |
RMND1:NM_017909:exon2:c.C395T:p.T132M |
|
6 |
151789912 |
1 |
ARMT1 |
C |
T |
exonic |
synonymous SNV |
ARMT1:NM_001286562:exon4:c.C636T:p.H212H,ARMT1:NM_024573:exon5:c.C993T:p.H331H |
RS9397054 |
LDL cholesterol:HDL
cholesterol:Years of education |
|
6 |
152529260 |
2 |
SYNE1 |
G |
A |
exonic |
synonymous SNV |
SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I |
RS3798756 |
Alzheimer's disease:Fasting blood
glucose:HOMA-IR:Adiponectin levels:Refractive error |
|
6 |
153215839 |
2 |
|
6 |
153296541 |
2 |
FBXO5 |
G |
C |
exonic |
nonsynonymous SNV |
FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E |
RS2073260 |
Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition):Major
depressive disorder:2 hour glucose:Lp-PLA2 activity:LDL cholesterol:Total
cholesterol:Waist hip ratio:Adiponectin levels:Aortic valve calcium |
|
6 |
153315696 |
1 |
MTRF1L |
G |
A |
exonic |
synonymous SNV |
MTRF1L:NM_001114184:exon4:c.C639T:p.R213R,MTRF1L:NM_001301047:exon4:c.C531T:p.R177R,MTRF1L:NM_001301870:exon4:c.C531T:p.R177R,MTRF1L:NM_001301871:exon4:c.C213T:p.R71R,MTRF1L:NM_019041:exon4:c.C639T:p.R213R |
|
6 |
153323594 |
2 |
MTRF1L |
C |
T |
exonic |
nonsynonymous SNV |
MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301047:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301870:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301872:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q |
|
6 |
153323709 |
2 |
MTRF1L |
T |
C |
exonic |
nonsynonymous SNV |
MTRF1L:NM_001114184:exon1:c.A112G:p.T38A,MTRF1L:NM_001301047:exon1:c.A112G:p.T38A,MTRF1L:NM_001301870:exon1:c.A112G:p.T38A,MTRF1L:NM_001301872:exon1:c.A112G:p.T38A,MTRF1L:NM_019041:exon1:c.A112G:p.T38A |
|
6 |
154771277 |
2 |
CNKSR3 |
A |
G |
exonic |
synonymous SNV |
CNKSR3:NM_173515:exon2:c.T168C:p.I56I |
RS9322467 |
2 hour glucose:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular degeneration
(geographic atrophy) |
|
6 |
158322995 |
1 |
SNX9 |
G |
A |
exonic |
nonsynonymous SNV |
SNX9:NM_016224:exon6:c.G538A:p.D180N |
|
6 |
158330765 |
1 |
SNX9 |
G |
A |
exonic |
synonymous SNV |
SNX9:NM_016224:exon8:c.G774A:p.R258R |
RS3211067 |
Triglycerides:2 hour
glucose:Cystatin C in serum:Serum creatinine:Waist hip ratio:Diabetic
retinopathy in Type 2 diabetes mellitus:Adiponectin levels |
|
6 |
158497717 |
1 |
SYNJ2 |
T |
C |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon16:c.T1641C:p.V547V,SYNJ2:NM_003898:exon17:c.T2352C:p.V784V |
RS2296508 |
Triglycerides:Gene expression
change of GTF2H5 (ENSG00000185068) in dendritic cells after treatment with
Mycobacterium tuberculosis:Salmonella-induced pyroptosis |
|
6 |
158505088 |
2 |
SYNJ2 |
A |
G |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon21:c.A2379G:p.G793G,SYNJ2:NM_003898:exon22:c.A3090G:p.G1030G |
RS1744173 |
Spine bone mineral density
(BMD):Gene expression of RP11-120J8.2 in blood:Gene expression of GTF2H5
(ENSG00000185068) in dendritic cells treated with Mycobacterium tuberculosis |
|
6 |
158507981 |
1 |
SYNJ2 |
G |
A |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R |
|
6 |
158509750 |
2 |
SYNJ2 |
A |
G |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon23:c.A2691G:p.G897G,SYNJ2:NM_003898:exon24:c.A3402G:p.G1134G |
RS350289 |
Gene expression of RP11-120J8.2 in
blood |
|
6 |
158517308 |
1 |
SYNJ2 |
A |
G |
exonic |
nonsynonymous SNV |
SYNJ2:NM_001178088:exon26:c.A3692G:p.E1231G,SYNJ2:NM_003898:exon27:c.A4403G:p.E1468G |
RS2502601 |
LDL cholesterol change with
statins:Lp-PLA2 mass:Triglycerides:Gene expression of SYNJ2 in blood |
|
6 |
158735087 |
1 |
TULP4 |
C |
T |
exonic |
synonymous SNV |
TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S |
RS9364951 |
HDL cholesterol change with
statins:Height |
|
6 |
158735090 |
1 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D |
RS7756620 |
HOMA-IR:Fasting insulin:HDL
cholesterol change with statins:Height |
|
6 |
158924088 |
2 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_020245:exon13:c.T3393C:p.D1131D |
|
6 |
159190936 |
1 |
EZR |
C |
T |
exonic |
synonymous SNV |
EZR:NM_003379:exon10:c.G1131A:p.E377E,EZR:NM_001111077:exon11:c.G1131A:p.E377E |
|
6 |
159420735 |
1 |
RSPH3 |
G |
A |
exonic |
nonsynonymous SNV |
RSPH3:NM_001346418:exon1:c.C274T:p.P92S,RSPH3:NM_031924:exon1:c.C274T:p.P92S |
|
6 |
160113872 |
2 |
SOD2 |
A |
G |
exonic |
nonsynonymous SNV |
SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A |
RS4880 |
Parkinson's disease
(PD):Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Parkinson's disease |
|
6 |
160198395 |
2 |
ACAT2 |
G |
A |
exonic |
synonymous SNV |
ACAT2:NM_001303253:exon7:c.G906A:p.G302G,ACAT2:NM_005891:exon7:c.G819A:p.G273G |
RS3465 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Comorbid depressive syndrome and alcohol
dependence:Gene expression of MRPL18 (ENSG00000112110) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of ACAT2 in normal
prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Aortic valve calcium:Gene expression of TCP1 in normal prepouch
ileum |
|
6 |
160465641 |
1 |
IGF2R |
G |
A |
exonic |
nonsynonymous SNV |
IGF2R:NM_000876:exon13:c.G1717A:p.G573S |
|
6 |
160494409 |
1 |
IGF2R |
A |
G |
exonic |
nonsynonymous SNV |
IGF2R:NM_000876:exon34:c.A4855G:p.R1619G |
RS629849 |
Autism |
|
6 |
160505199 |
2 |
IGF2R |
C |
G |
exonic |
synonymous SNV |
IGF2R:NM_000876:exon40:c.C6051G:p.L2017L |
RS614754 |
Serum creatinine:Height |
|
6 |
160769811 |
2 |
SLC22A3 |
C |
T |
exonic |
synonymous SNV |
SLC22A3:NM_021977:exon1:c.C360T:p.R120R |
RS668871 |
Distal colon cancer |
|
6 |
161469774 |
2 |
MAP3K4 |
G |
A |
exonic |
nonsynonymous SNV |
MAP3K4:NM_001301072:exon3:c.G470A:p.R157H,MAP3K4:NM_005922:exon3:c.G470A:p.R157H,MAP3K4:NM_006724:exon3:c.G470A:p.R157H |
RS4559074 |
Fasting insulin:Rheumatoid
arthritis:Triglycerides:Urinary albumin-to-creatinine ratio |
|
6 |
167550042 |
2 |
CCR6 |
C |
T |
exonic |
synonymous SNV |
CCR6:NM_004367:exon3:c.C324T:p.T108T,CCR6:NM_031409:exon3:c.C324T:p.T108T |
|
6 |
167719436 |
1 |
UNC93A |
G |
A |
exonic |
nonsynonymous SNV |
UNC93A:NM_001143947:exon5:c.G748A:p.V250I,UNC93A:NM_018974:exon6:c.G874A:p.V292I |
RS2072767 |
Triglycerides change with
statins:Triglycerides change with statins:Neuroblastoma (brain
cancer):Microalbuminuria:Urinary albumin-to-creatinine ratio:PROP taste
detection threshold |
|
6 |
167728774 |
1 |
UNC93A |
T |
C |
exonic |
nonsynonymous SNV |
UNC93A:NM_001143947:exon7:c.T1082C:p.M361T,UNC93A:NM_018974:exon8:c.T1208C:p.M403T |
|
6 |
167728775 |
1 |
UNC93A |
G |
A |
exonic |
nonsynonymous SNV |
UNC93A:NM_001143947:exon7:c.G1083A:p.M361I,UNC93A:NM_018974:exon8:c.G1209A:p.M403I |
|
6 |
168343838 |
1 |
AFDN |
T |
C |
exonic |
synonymous SNV |
AFDN:NM_001207008:exon22:c.T3060C:p.Y1020Y,AFDN:NM_001040000:exon23:c.T3108C:p.Y1036Y,AFDN:NM_001291964:exon23:c.T2985C:p.Y995Y |
RS1132306 |
Gene expression of MLLT4 [probe
2936857] in peripheral blood mononuclear cells:2 hour glucose:Gene expression
of C6orf54 in CD4+ lymphocytes:Gene expression of MLLT4 in blood:Bipolar
disorder:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of KIF25 (probeID
ILMN_1676679) in cerebellum in Alzheimer's disease cases:Hypertension (early
onset hypertension):Gene expression of KIF25 (probeID ILMN_1676679) in
temporal cortex in Alzheimer's disease cases:Gene expression of KIF25
(probeID ILMN_1676679) in cerebellum in non-Alzheimer's disease samples:Gene
expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of KIF25 (probeID ILMN_1676679) in
cerebellum in Alzheimer's disease cases and controls |
|
6 |
168349011 |
1 |
AFDN |
C |
T |
exonic |
synonymous SNV |
AFDN:NM_001207008:exon27:c.C3612T:p.I1204I,AFDN:NM_001040000:exon28:c.C3663T:p.I1221I,AFDN:NM_001291964:exon28:c.C3540T:p.I1180I |
RS9364371 |
Differential exon level expression
of MLLT4 [probe 2936933] in peripheral blood mononuclear cells:Gene
expression of MLLT4 [probe 2936857] in peripheral blood mononuclear
cells:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of KIF25
(probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and
controls:Aortic valve calcium:Gene expression of KIF25 (probeID ILMN_1676679)
in cerebellum in Alzheimer's disease cases and controls |
|
6 |
168352105 |
1 |
AFDN |
G |
A |
exonic |
synonymous SNV |
AFDN:NM_001207008:exon28:c.G3999A:p.P1333P,AFDN:NM_001040000:exon29:c.G4050A:p.P1350P,AFDN:NM_001291964:exon29:c.G3927A:p.P1309P |
RS2076664 |
Advanced age-related macular
degeneration |
|
6 |
170176647 |
1 |
ERMARD |
C |
T |
exonic |
synonymous SNV |
ERMARD:NM_001278532:exon15:c.C1239T:p.I413I,ERMARD:NM_018341:exon16:c.C1617T:p.I539I |
RS4716399 |
Salmonella-induced
pyroptosis:Diabetic retinopathy in Type 2 diabetes mellitus |
|
6 |
170176648 |
1 |
ERMARD |
A |
G |
exonic |
nonsynonymous SNV |
ERMARD:NM_001278532:exon15:c.A1240G:p.S414G,ERMARD:NM_018341:exon16:c.A1618G:p.S540G |
RS4716346 |
Gene expression of hmm32345 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
6 |
170862300 |
1 |
PSMB1 |
G |
C |
exonic |
nonsynonymous SNV |
PSMB1:NM_002793:exon1:c.C31G:p.P11A |
RS12717 |
Gene expression of PDCD2 [probe
228420_at] in lymphoblastoid cell lines:Years of education:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
6 |
170878793 |
1 |
TBP |
T |
C |
exonic |
synonymous SNV |
TBP:NM_001172085:exon5:c.T711C:p.N237N,TBP:NM_003194:exon6:c.T771C:p.N257N |
RS1042327 |
Gene expression of PDCD2 in
Cerebellum:Gene expression of PDCD2 in Frontal cortex:Gene expression of
PDCD2 in Temporal cortex:Gene expression of PDCD2 (probeID ILMN_1797684) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of PDCD2
(probeID ILMN_1797684) in cerebellum in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration |
|
7 |
299850 |
1 |
FAM20C |
G |
T |
exonic |
synonymous SNV |
FAM20C:NM_020223:exon10:c.G1659T:p.V553V |
|
7 |
299863 |
1 |
FAM20C |
C |
T |
exonic |
nonsynonymous SNV |
FAM20C:NM_020223:exon10:c.C1672T:p.R558W |
|
7 |
299881 |
1 |
FAM20C |
A |
G |
exonic |
nonsynonymous SNV |
FAM20C:NM_020223:exon10:c.A1690G:p.N564D |
|
7 |
810219 |
2 |
DNAAF5 |
T |
C |
exonic |
nonsynonymous SNV |
DNAAF5:NM_017802:exon9:c.T1895C:p.V632A |
RS4720951 |
Gene expression of HEATR2 in normal
prepouch ileum |
|
7 |
881668 |
2 |
SUN1 |
C |
T |
exonic |
nonsynonymous SNV |
SUN1:NM_001130965:exon3:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171945:exon5:c.C415T:p.H139Y |
RS6461378 |
Celiac disease:Irritible bowel
syndrome:HOMA-B:Gene expression of C7orf20 in blood:Gene expression of CENTA1
in blood:Gene expression of HEATR2 in blood:Systolic blood pressure
(SBP):Comorbid depressive syndrome and alcohol dependence:Cognitive response of
healthy volunteers to topiramate treatment as measure by the TrailsA
cognitive test:Sporadic Creutzfeldt-Jakob disease:College completion:Gene
expression of HEATR2 in normal prepouch ileum |
|
7 |
940181 |
2 |
ADAP1 |
C |
T |
exonic |
nonsynonymous SNV |
ADAP1:NM_001284311:exon5:c.G436A:p.G146S,ADAP1:NM_001284310:exon6:c.G505A:p.G169S,ADAP1:NM_001284308:exon7:c.G754A:p.G252S,ADAP1:NM_001284309:exon7:c.G505A:p.G169S,ADAP1:NM_006869:exon7:c.G721A:p.G241S |
|
7 |
1481919 |
1 |
MICALL2 |
C |
A |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon7:c.G1620T:p.A540A |
|
7 |
1484572 |
1 |
MICALL2 |
A |
G |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon6:c.T1134C:p.G378G |
|
7 |
1533513 |
2 |
INTS1 |
A |
G |
exonic |
synonymous SNV |
INTS1:NM_001080453:exon15:c.T1945C:p.L649L |
|
7 |
1542697 |
2 |
INTS1 |
G |
A |
exonic |
synonymous SNV |
INTS1:NM_001080453:exon3:c.C189T:p.A63A |
RS3752714 |
LDL cholesterol change with
statins:Serum creatinine:Chronic kidney disease:Gene expression of INTS1 in
normal prepouch ileum |
|
7 |
1976457 |
1 |
MAD1L1 |
C |
T |
exonic |
nonsynonymous SNV |
MAD1L1:NM_001304525:exon2:c.G41A:p.R14H,MAD1L1:NM_001304524:exon15:c.G1397A:p.R466H,MAD1L1:NM_001304523:exon16:c.G1673A:p.R558H,MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H |
RS1801368 |
Prostate cancer |
|
7 |
2290522 |
1 |
NUDT1 |
C |
T |
exonic |
synonymous SNV |
NUDT1:NM_002452:exon4:c.C357T:p.D119D,NUDT1:NM_198953:exon4:c.C357T:p.D119D,NUDT1:NM_198954:exon4:c.C426T:p.D142D,NUDT1:NM_198948:exon5:c.C357T:p.D119D,NUDT1:NM_198949:exon5:c.C426T:p.D142D,NUDT1:NM_198950:exon5:c.C357T:p.D119D,NUDT1:NM_198952:exon5:c.C426T:p.D142D |
RS1799832 |
Chronic kidney
disease:Salmonella-induced pyroptosis |
|
7 |
2297006 |
1 |
SNX8 |
A |
G |
exonic |
synonymous SNV |
SNX8:NM_013321:exon9:c.T1128C:p.I376I |
|
7 |
2303986 |
1 |
SNX8 |
T |
C |
exonic |
synonymous SNV |
SNX8:NM_013321:exon6:c.A729G:p.A243A |
RS2286206 |
HDL cholesterol |
|
7 |
2394746 |
1 |
EIF3B |
T |
C |
exonic |
nonsynonymous SNV |
EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P |
|
7 |
2577781 |
1 |
BRAT1 |
T |
C |
exonic |
synonymous SNV |
BRAT1:NM_001350627:exon13:c.A1863G:p.E621E,BRAT1:NM_001350626:exon14:c.A2568G:p.E856E,BRAT1:NM_152743:exon14:c.A2388G:p.E796E |
RS1043291 |
Childhood acute lymphoblastic
leukemia:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
7 |
2578237 |
1 |
BRAT1 |
T |
C |
exonic |
synonymous SNV |
BRAT1:NM_001350627:exon13:c.A1407G:p.R469R,BRAT1:NM_001350626:exon14:c.A2112G:p.R704R,BRAT1:NM_152743:exon14:c.A1932G:p.R644R |
|
7 |
2578238 |
1 |
BRAT1 |
C |
T |
exonic |
nonsynonymous SNV |
BRAT1:NM_001350627:exon13:c.G1406A:p.R469Q,BRAT1:NM_001350626:exon14:c.G2111A:p.R704Q,BRAT1:NM_152743:exon14:c.G1931A:p.R644Q |
RS62907961 |
PROP taste detection threshold |
|
7 |
2578246 |
1 |
BRAT1 |
C |
T |
exonic |
synonymous SNV |
BRAT1:NM_001350627:exon13:c.G1398A:p.A466A,BRAT1:NM_001350626:exon14:c.G2103A:p.A701A,BRAT1:NM_152743:exon14:c.G1923A:p.A641A |
|
7 |
2583328 |
1 |
BRAT1 |
C |
T |
exonic |
synonymous SNV |
BRAT1:NM_001350627:exon4:c.G174A:p.T58T,BRAT1:NM_001350626:exon5:c.G699A:p.T233T,BRAT1:NM_152743:exon5:c.G699A:p.T233T |
|
7 |
4802029 |
2 |
FOXK1 |
T |
G |
exonic |
synonymous SNV |
FOXK1:NM_001037165:exon9:c.T2136G:p.G712G |
|
7 |
4823971 |
1 |
AP5Z1 |
C |
T |
exonic |
synonymous SNV |
AP5Z1:NM_014855:exon6:c.C759T:p.S253S |
|
7 |
4827330 |
1 |
AP5Z1 |
C |
T |
exonic |
synonymous SNV |
AP5Z1:NM_014855:exon11:c.C1377T:p.D459D |
RS17135128 |
Serum creatinine |
|
7 |
5105133 |
2 |
RBAK |
C |
T |
exonic |
synonymous SNV |
RBAK:NM_021163:exon5:c.C2046T:p.N682N,RBAK:NM_001204456:exon6:c.C2046T:p.N682N |
|
7 |
5254227 |
2 |
WIPI2 |
C |
G |
exonic |
synonymous SNV |
WIPI2:NM_001033520:exon1:c.C96G:p.V32V,WIPI2:NM_001033519:exon3:c.C219G:p.V73V,WIPI2:NM_016003:exon3:c.C219G:p.V73V,WIPI2:NM_001033518:exon4:c.C273G:p.V91V,WIPI2:NM_015610:exon4:c.C273G:p.V91V |
RS4587243 |
HOMA-B |
|
7 |
5338714 |
1 |
SLC29A4 |
T |
C |
exonic |
synonymous SNV |
SLC29A4:NM_001040661:exon8:c.T978C:p.D326D,SLC29A4:NM_001300847:exon8:c.T936C:p.D312D,SLC29A4:NM_153247:exon8:c.T978C:p.D326D |
RS6950111 |
HDL cholesterol:LDL
cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene
expression of SLC29A4 in normal prepouch ileum:Diabetic retinopathy in Type 2
diabetes mellitus |
|
7 |
5342474 |
1 |
SLC29A4 |
C |
T |
exonic |
synonymous SNV |
SLC29A4:NM_001040661:exon11:c.C1497T:p.S499S,SLC29A4:NM_001300847:exon11:c.C1455T:p.S485S,SLC29A4:NM_153247:exon11:c.C1497T:p.S499S |
|
7 |
5347749 |
1 |
TNRC18 |
G |
A |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon30:c.C8895T:p.P2965P |
RS9639976 |
LDL cholesterol:Systolic blood
pressure (SBP):College completion |
|
7 |
5347914 |
1 |
TNRC18 |
G |
A |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon30:c.C8730T:p.D2910D |
|
7 |
5372406 |
2 |
TNRC18 |
G |
T |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R |
|
7 |
5401575 |
1 |
TNRC18 |
C |
T |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon13:c.G4485A:p.K1495K |
|
7 |
5427652 |
1 |
TNRC18 |
G |
A |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon5:c.C1803T:p.A601A |
|
7 |
5427720 |
2 |
TNRC18 |
A |
G |
exonic |
nonsynonymous SNV |
TNRC18:NM_001080495:exon5:c.T1735C:p.S579P |
|
7 |
5567677 |
1 |
ACTB |
C |
T |
exonic |
synonymous SNV |
ACTB:NM_001101:exon5:c.G942A:p.Q314Q |
|
7 |
6063283 |
1 |
AIMP2 |
C |
T |
exonic |
synonymous SNV |
AIMP2:NM_001326607:exon3:c.C717T:p.N239N,AIMP2:NM_001326606:exon4:c.C804T:p.N268N,AIMP2:NM_001326611:exon4:c.C690T:p.N230N,AIMP2:NM_006303:exon4:c.C924T:p.N308N,AIMP2:NM_001326609:exon5:c.C690T:p.N230N,AIMP2:NM_001326610:exon5:c.C690T:p.N230N |
RS4560 |
Fasting blood glucose:Gene
expression of HRI in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene
expression of EIF2AK1 [probe 217735_s_at] in lymphoblastoid cell lines:Gene
expression of JTV1 in peripheral blood monocytes:Diastolic blood pressure
(DBP):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
7 |
6370194 |
1 |
FAM220A |
C |
T |
exonic |
nonsynonymous SNV |
FAM220A:NM_001037163:exon2:c.G592A:p.V198M |
RS6952125 |
Stabilized warfarin
dose:Differential exon level expression of MGC12966 [probe 3037307] in
peripheral blood mononuclear cells:Differential exon level expression of
MGC12966 [probe 3037307] in brain cortex:Gene expression of
RSPH10B///PMS2CL///RSPH10B2 in blood:Gene expression of
C7orf28A///RSPH10B///RSPH10B2///C7orf28B in blood:Gene expression of
C7orf28A///C7orf28B in blood:Variant Creutzfeldt-Jakob disease:Years of
education:Hypertension (early onset hypertension) |
|
7 |
6370305 |
1 |
FAM220A |
C |
G |
exonic |
nonsynonymous SNV |
FAM220A:NM_001037163:exon2:c.G481C:p.V161L |
RS3750039 |
Differential splicing of MGC12966
[probeset 3037307] in lymphoblastoid cell lines |
|
7 |
6370406 |
1 |
FAM220A |
C |
T |
exonic |
nonsynonymous SNV |
FAM220A:NM_001037163:exon2:c.G380A:p.R127Q |
RS3750040 |
Differential splicing of MGC12966
[probeset 3037307] in lymphoblastoid cell lines |
|
7 |
6449967 |
1 |
DAGLB |
T |
G |
exonic |
synonymous SNV |
DAGLB:NM_001142936:exon12:c.A1227C:p.G409G,DAGLB:NM_139179:exon14:c.A1614C:p.G538G |
|
7 |
6505901 |
2 |
KDELR2 |
T |
C |
exonic |
synonymous SNV |
KDELR2:NM_006854:exon4:c.A405G:p.L135L |
|
7 |
6621277 |
1 |
ZDHHC4 |
G |
A |
exonic |
nonsynonymous SNV |
ZDHHC4:NM_001134387:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134389:exon4:c.G157A:p.V53M,ZDHHC4:NM_018106:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134388:exon5:c.G157A:p.V53M |
RS11559146 |
Diabetic retinopathy in Type 2
diabetes mellitus:Salmonella-induced pyroptosis |
|
7 |
6639953 |
1 |
C7orf26 |
G |
A |
exonic |
synonymous SNV |
C7orf26:NM_024067:exon4:c.G1074A:p.V358V,C7orf26:NM_001303039:exon5:c.G783A:p.V261V |
|
7 |
6647738 |
2 |
C7orf26 |
T |
C |
exonic |
synonymous SNV |
C7orf26:NM_024067:exon6:c.T1296C:p.H432H,C7orf26:NM_001303039:exon7:c.T1005C:p.H335H |
|
7 |
6656897 |
2 |
ZNF853 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF853:NM_017560:exon2:c.A89G:p.Q30R |
RS1806552 |
HOMA-B:Fasting insulin:HOMA-IR:Body
mass index (BMI) |
|
7 |
6731672 |
1 |
ZNF12 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF12:NM_016265:exon5:c.C901G:p.Q301E,ZNF12:NM_006956:exon6:c.C787G:p.Q263E |
|
7 |
7646651 |
2 |
MIOS |
G |
T |
exonic |
synonymous SNV |
MIOS:NM_019005:exon13:c.G2556T:p.S852S |
RS7806046 |
Years of education |
|
7 |
7646687 |
2 |
MIOS |
A |
G |
exonic |
synonymous SNV |
MIOS:NM_019005:exon13:c.A2592G:p.T864T |
RS4222 |
Stabilized warfarin
dose:Neuroticism:Childhood acute lymphoblastic leukemia:Total
cholesterol:Chronic kidney disease:LDL cholesterol:Asthma:Waist hip
ratio:Hypertension (early onset hypertension) |
|
7 |
9863112 |
2 |
|
7 |
11022564 |
1 |
PHF14 |
G |
A |
exonic |
synonymous SNV |
PHF14:NM_014660:exon3:c.G678A:p.A226A |
|
7 |
12263971 |
1 |
TMEM106B |
G |
A |
exonic |
nonsynonymous SNV |
TMEM106B:NM_001134232:exon4:c.G401A:p.S134N,TMEM106B:NM_018374:exon5:c.G401A:p.S134N |
|
7 |
12269417 |
1 |
TMEM106B |
C |
G |
exonic |
nonsynonymous SNV |
TMEM106B:NM_001134232:exon5:c.C554G:p.T185S,TMEM106B:NM_018374:exon6:c.C554G:p.T185S |
RS3173615 |
Gene expression of FLJ11273 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height |
|
7 |
16655387 |
1 |
ANKMY2 |
C |
T |
exonic |
synonymous SNV |
ANKMY2:NM_020319:exon5:c.G513A:p.T171T |
RS11540037 |
Sporadic Creutzfeldt-Jakob
disease:Variant Creutzfeldt-Jakob disease:Parkinson's disease |
|
7 |
16666741 |
1 |
ANKMY2 |
T |
G |
exonic |
synonymous SNV |
ANKMY2:NM_020319:exon3:c.A195C:p.L65L |
RS11532682 |
Advanced age-related macular
degeneration |
|
7 |
16666759 |
1 |
ANKMY2 |
G |
C |
exonic |
synonymous SNV |
ANKMY2:NM_020319:exon3:c.C177G:p.L59L |
RS11531477 |
Advanced age-related macular
degeneration |
|
7 |
16823095 |
2 |
TSPAN13 |
G |
A |
exonic |
synonymous SNV |
TSPAN13:NM_014399:exon6:c.G594A:p.A198A |
RS11491 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
7 |
17854532 |
1 |
SNX13 |
G |
T |
exonic |
synonymous SNV |
SNX13:NM_001350862:exon20:c.C2022A:p.P674P,SNX13:NM_001350863:exon20:c.C1749A:p.P583P,SNX13:NM_015132:exon20:c.C1989A:p.P663P,SNX13:NM_001350864:exon21:c.C1683A:p.P561P,SNX13:NM_001350865:exon21:c.C1683A:p.P561P,SNX13:NM_001350866:exon21:c.C1380A:p.P460P,SNX13:NM_001350867:exon21:c.C1380A:p.P460P |
RS2723501 |
LDL cholesterol:HDL
cholesterol:Total cholesterol:LDL cholesterol:Years of education:College
completion:Adiponectin levels |
|
7 |
23164701 |
1 |
KLHL7 |
C |
T |
exonic |
synonymous SNV |
KLHL7:NM_001031710:exon4:c.C352T:p.L118L,KLHL7:NM_001172428:exon4:c.C352T:p.L118L,KLHL7:NM_018846:exon4:c.C208T:p.L70L |
RS15775 |
Serum creatinine:Cystatin C in
serum:Gene expression of GPNMB in Frontal cortex:Parkinson's disease
(PD):Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension
(early onset hypertension) |
|
7 |
23313171 |
1 |
GPNMB |
T |
C |
exonic |
synonymous SNV |
GPNMB:NM_001005340:exon10:c.T1497C:p.S499S,GPNMB:NM_002510:exon10:c.T1461C:p.S487S |
|
7 |
24742436 |
1 |
DFNA5 |
T |
C |
exonic |
synonymous SNV |
DFNA5:NM_001127454:exon8:c.A708G:p.A236A,DFNA5:NM_001127453:exon9:c.A1200G:p.A400A,DFNA5:NM_004403:exon9:c.A1200G:p.A400A |
RS17149912 |
LDL cholesterol:LDL
cholesterol:College completion:Diabetic retinopathy in Type 2 diabetes
mellitus:Years of education |
|
7 |
24758795 |
1 |
DFNA5 |
T |
C |
exonic |
synonymous SNV |
DFNA5:NM_001127453:exon4:c.A447G:p.E149E,DFNA5:NM_004403:exon4:c.A447G:p.E149E |
RS876305 |
Methylation levels at
chr7:24763838-24763888 [hg18 coord, probe cg04770504] in Caudal pons |
|
7 |
24854765 |
1 |
OSBPL3 |
G |
A |
exonic |
synonymous SNV |
OSBPL3:NM_145322:exon16:c.C1884T:p.S628S,OSBPL3:NM_145320:exon17:c.C1992T:p.S664S,OSBPL3:NM_145321:exon17:c.C1977T:p.S659S,OSBPL3:NM_015550:exon19:c.C2085T:p.S695S |
RS1044956 |
Gene expression of DFNA5 in
peripheral blood monocytes:Years of education:College completion |
|
7 |
24888730 |
1 |
OSBPL3 |
G |
A |
exonic |
synonymous SNV |
OSBPL3:NM_145320:exon10:c.C1131T:p.L377L,OSBPL3:NM_015550:exon12:c.C1224T:p.L408L |
|
7 |
25194753 |
1 |
C7orf31 |
C |
T |
exonic |
nonsynonymous SNV |
C7orf31:NM_138811:exon6:c.G472A:p.A158T |
RS12535348 |
PROP taste detection
threshold:Salmonella-induced pyroptosis |
|
7 |
27169093 |
2 |
HOXA4 |
T |
G |
exonic |
synonymous SNV |
HOXA4:NM_002141:exon2:c.A714C:p.R238R |
RS2158218 |
Mitral annular calcium |
|
7 |
27827103 |
2 |
TAX1BP1 |
T |
A |
exonic |
nonsynonymous SNV |
TAX1BP1:NM_001206902:exon7:c.T448A:p.L150I,TAX1BP1:NM_001079864:exon8:c.T919A:p.L307I,TAX1BP1:NM_001206901:exon8:c.T919A:p.L307I,TAX1BP1:NM_006024:exon8:c.T919A:p.L307I |
|
7 |
29605975 |
2 |
PRR15 |
C |
G |
exonic |
synonymous SNV |
PRR15:NM_001329996:exon2:c.C30G:p.S10S,PRR15:NM_001329997:exon2:c.C30G:p.S10S,PRR15:NM_175887:exon2:c.C30G:p.S10S |
|
7 |
30634661 |
2 |
GARS |
C |
G |
exonic |
nonsynonymous SNV |
GARS:NM_002047:exon1:c.C124G:p.P42A |
RS1049402 |
HOMA-B:HOMA-IR:College
completion:Years of education |
|
7 |
32529936 |
2 |
LSM5 |
G |
C |
exonic |
synonymous SNV |
LSM5:NM_012322:exon1:c.C42G:p.P14P |
RS1584614 |
Gene expression of LOC402476 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DPY19L1P1 [probe
215102_at] in lymphoblastoid cell lines:HDL cholesterol:Cystatin C in
serum:Systolic blood pressure (SBP):Adiponectin levels:Infant head circumference |
|
7 |
32613020 |
2 |
AVL9 |
A |
G |
exonic |
synonymous SNV |
AVL9:NM_015060:exon12:c.A1560G:p.T520T |
RS1993050 |
Gene expression of DPY19L1P1 [probe
215102_at] in lymphoblastoid cell lines:Gene expression of FKBP9L in
peripheral blood monocytes:Obesity with early age of onset (age
>2):Adiponectin levels |
|
7 |
33060946 |
1 |
NT5C3A |
A |
G |
exonic |
synonymous SNV |
NT5C3A:NM_001002010:exon5:c.T393C:p.Y131Y,NT5C3A:NM_001002009:exon6:c.T276C:p.Y92Y,NT5C3A:NM_016489:exon6:c.T276C:p.Y92Y,NT5C3A:NM_001166118:exon7:c.T240C:p.Y80Y |
RS3750117 |
Chronic kidney disease:Serum
creatinine:Cystatin C in serum:Gene expression of NT5C3 (probeID
ILMN_2352121) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of NT5C3 (probeID ILMN_2352121) in cerebellum in
Alzheimer's disease cases and controls |
|
7 |
34979905 |
1 |
DPY19L1 |
C |
A |
exonic |
nonsynonymous SNV |
DPY19L1:NM_015283:exon19:c.G1505T:p.G502V |
RS1637696 |
Birth weight:Advanced age-related
macular degeneration (geographic atrophy) |
|
7 |
36338749 |
2 |
EEPD1 |
T |
C |
exonic |
synonymous SNV |
EEPD1:NM_030636:exon8:c.T1644C:p.D548D |
RS196613 |
HOMA-IR:Height |
|
7 |
37988589 |
2 |
EPDR1 |
C |
T |
exonic |
synonymous SNV |
EPDR1:NM_001242948:exon2:c.C234T:p.I78I,EPDR1:NM_017549:exon2:c.C417T:p.I139I |
RS2044831 |
Stabilized warfarin
dose:Triglycerides change with statins:Partial epilepsy:Gene expression of
EPDR1 [probe ILMN_25170] in osteoblasts treated with PGE2:Gene expression
change of SFRP4 (ENSG00000106483) in dendritic cells after treatment with
Mycobacterium tuberculosis:Tetrology of fallot |
|
7 |
40039041 |
1 |
CDK13 |
C |
T |
exonic |
synonymous SNV |
CDK13:NM_003718:exon4:c.C2124T:p.I708I,CDK13:NM_031267:exon4:c.C2124T:p.I708I |
|
7 |
40314165 |
1 |
SUGCT |
G |
A |
exonic |
synonymous SNV |
SUGCT:NM_001193311:exon8:c.G651A:p.L217L,SUGCT:NM_001193313:exon8:c.G651A:p.L217L,SUGCT:NM_024728:exon8:c.G540A:p.L180L |
RS12669315 |
Parkinson's disease |
|
7 |
40899967 |
1 |
SUGCT |
G |
C |
exonic |
synonymous SNV |
SUGCT:NM_001193312:exon13:c.G1083C:p.P361P,SUGCT:NM_001193313:exon14:c.G1227C:p.P409P,SUGCT:NM_001193311:exon15:c.G1305C:p.P435P,SUGCT:NM_024728:exon15:c.G1194C:p.P398P |
RS2010706 |
2 hour glucose:Waist hip ratio:Birth
weight |
|
7 |
43664280 |
2 |
STK17A |
A |
G |
exonic |
nonsynonymous SNV |
STK17A:NM_004760:exon7:c.A1084G:p.K362E |
RS1044141 |
Gene expression of C7orf44 [probe
209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian
failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal
cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood
monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene
expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with
dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in
blood:Gene expression of [probe 6510438 centered at chr7:43637667] in
blood:Refractive error:Advanced age-related macular degeneration (geographic
atrophy) |
|
7 |
43846603 |
1 |
BLVRA |
A |
G |
exonic |
synonymous SNV |
BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G |
RS7738 |
Fasting blood glucose:Triglycerides
change with statins:Chronic kidney disease:LDL cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
7 |
43916727 |
1 |
URGCP |
T |
G |
exonic |
nonsynonymous SNV |
URGCP:NM_017920:exon5:c.A2308C:p.M770L,URGCP:NM_001077663:exon6:c.A2335C:p.M779L,URGCP:NM_001077664:exon6:c.A2206C:p.M736L,URGCP:NM_001290075:exon6:c.A2206C:p.M736L,URGCP:NM_001290076:exon7:c.A2206C:p.M736L |
RS2232108 |
Schizophrenia:Alzheimer's disease
(APOE4 positive):Total cholesterol:Gene expression of BLVRA in blood:Gene
expression of POLM in blood:Gene expression of DBNL in blood:Gene expression
of C7orf44 in blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
7 |
43917013 |
1 |
URGCP |
G |
A |
exonic |
synonymous SNV |
URGCP:NM_017920:exon5:c.C2022T:p.H674H,URGCP:NM_001077663:exon6:c.C2049T:p.H683H,URGCP:NM_001077664:exon6:c.C1920T:p.H640H,URGCP:NM_001290075:exon6:c.C1920T:p.H640H,URGCP:NM_001290076:exon7:c.C1920T:p.H640H |
RS2232105 |
Schizophrenia:Total
cholesterol:Bipolar disorder:Gene expression of BLVRA in peripheral blood
monocytes:Gene expression of BLVRA in blood:Gene expression of POLM in
blood:Gene expression of DBNL in blood:Gene expression of C7orf44 in
blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy) |
|
7 |
43917274 |
2 |
URGCP |
A |
G |
exonic |
synonymous SNV |
URGCP:NM_017920:exon5:c.T1761C:p.H587H,URGCP:NM_001077663:exon6:c.T1788C:p.H596H,URGCP:NM_001077664:exon6:c.T1659C:p.H553H,URGCP:NM_001290075:exon6:c.T1659C:p.H553H,URGCP:NM_001290076:exon7:c.T1659C:p.H553H |
RS2232103 |
Gene expression of URG4 [probe
244046_at] in lymphoblastoid cell lines:Total cholesterol change with
statins:LDL cholesterol change with statins:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
7 |
43917387 |
1 |
URGCP |
A |
G |
exonic |
nonsynonymous SNV |
URGCP:NM_017920:exon5:c.T1648C:p.S550P,URGCP:NM_001077663:exon6:c.T1675C:p.S559P,URGCP:NM_001077664:exon6:c.T1546C:p.S516P,URGCP:NM_001290075:exon6:c.T1546C:p.S516P,URGCP:NM_001290076:exon7:c.T1546C:p.S516P |
|
7 |
44579180 |
1 |
NPC1L1 |
G |
C |
exonic |
synonymous SNV |
NPC1L1:NM_001101648:exon2:c.C816G:p.L272L,NPC1L1:NM_001300967:exon2:c.C816G:p.L272L,NPC1L1:NM_013389:exon2:c.C816G:p.L272L |
RS2072183 |
Gene expression of HNLF in
CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Fasting blood
glucose:HOMA-B:Triglycerides:LDL cholesterol:Total cholesterol:Response to
fenofibrate change in LDL diameter:Birth weight:Diabetic retinopathy in Type
2 diabetes mellitus:LDL cholesterol:Total cholesterol |
|
7 |
44606098 |
2 |
DDX56 |
C |
T |
exonic |
synonymous SNV |
DDX56:NM_001257189:exon12:c.G1395A:p.V465V,DDX56:NM_019082:exon13:c.G1515A:p.V505V |
RS6656 |
LDL cholesterol:Triglycerides:LDL
cholesterol:Total cholesterol:Adiponectin levels |
|
7 |
44612229 |
1 |
DDX56 |
G |
A |
exonic |
synonymous SNV |
DDX56:NM_001257189:exon4:c.C498T:p.D166D,DDX56:NM_019082:exon4:c.C498T:p.D166D |
RS2289057 |
Triglycerides:Infant head
circumference |
|
7 |
44663981 |
1 |
OGDH |
A |
C |
exonic |
synonymous SNV |
OGDH:NM_001003941:exon2:c.A39C:p.P13P,OGDH:NM_001165036:exon2:c.A39C:p.P13P,OGDH:NM_002541:exon2:c.A39C:p.P13P |
|
7 |
44806089 |
1 |
ZMIZ2 |
G |
A |
exonic |
nonsynonymous SNV |
ZMIZ2:NM_174929:exon16:c.G2404A:p.G802R,ZMIZ2:NM_001300959:exon17:c.G2308A:p.G770R,ZMIZ2:NM_031449:exon18:c.G2482A:p.G828R |
|
7 |
45077978 |
1 |
CCM2 |
G |
A |
exonic |
nonsynonymous SNV |
CCM2:NM_001029835:exon2:c.G220A:p.V74I,CCM2:NM_001167935:exon2:c.G157A:p.V53I,CCM2:NM_031443:exon2:c.G157A:p.V53I |
RS2107732 |
Simpson-Angus Scale:Total
cholesterol change with statins:LDL cholesterol change with statins:Diastolic
blood pressure (DBP) |
|
7 |
45113121 |
1 |
CCM2 |
G |
A |
exonic |
nonsynonymous SNV |
CCM2:NM_001167935:exon6:c.G593A:p.S198N,CCM2:NM_001167934:exon7:c.G692A:p.S231N,CCM2:NM_001029835:exon8:c.G929A:p.S310N,CCM2:NM_031443:exon8:c.G866A:p.S289N |
|
7 |
47323456 |
1 |
TNS3 |
A |
G |
exonic |
synonymous SNV |
TNS3:NM_022748:exon28:c.T3936C:p.N1312N |
RS3750164 |
Microalbuminuria:PROP taste
detection threshold:Mitral annular calcium |
|
7 |
47408029 |
2 |
TNS3 |
A |
G |
exonic |
synonymous SNV |
TNS3:NM_022748:exon17:c.T2214C:p.G738G |
RS2255744 |
PROP taste detection threshold |
|
7 |
47408443 |
1 |
TNS3 |
C |
G |
exonic |
nonsynonymous SNV |
TNS3:NM_022748:exon17:c.G1800C:p.Q600H |
|
7 |
47408974 |
2 |
TNS3 |
T |
A |
exonic |
synonymous SNV |
TNS3:NM_022748:exon17:c.A1269T:p.A423A |
|
7 |
50611735 |
2 |
DDC |
T |
C |
exonic |
nonsynonymous SNV |
DDC:NM_000790:exon2:c.A49G:p.M17V,DDC:NM_001082971:exon2:c.A49G:p.M17V,DDC:NM_001242886:exon2:c.A49G:p.M17V,DDC:NM_001242887:exon2:c.A49G:p.M17V,DDC:NM_001242888:exon2:c.A49G:p.M17V,DDC:NM_001242889:exon2:c.A49G:p.M17V,DDC:NM_001242890:exon2:c.A49G:p.M17V |
|
7 |
51096036 |
1 |
COBL |
G |
C |
exonic |
nonsynonymous SNV |
COBL:NM_001346442:exon10:c.C2757G:p.H919Q,COBL:NM_001346443:exon10:c.C2757G:p.H919Q,COBL:NM_015198:exon10:c.C2757G:p.H919Q,COBL:NM_001287436:exon11:c.C2928G:p.H976Q,COBL:NM_001346441:exon11:c.C2928G:p.H976Q |
RS2240089 |
Triglycerides:HDL cholesterol
ratio:Simpson-Angus Scale:Cystatin C in serum:HDL cholesterol |
|
7 |
51096974 |
2 |
COBL |
C |
T |
exonic |
nonsynonymous SNV |
COBL:NM_001346442:exon10:c.G1819A:p.V607I,COBL:NM_001346443:exon10:c.G1819A:p.V607I,COBL:NM_015198:exon10:c.G1819A:p.V607I,COBL:NM_001287436:exon11:c.G1990A:p.V664I,COBL:NM_001346441:exon11:c.G1990A:p.V664I |
RS2240090 |
Eye color:Rheumatoid arthritis:Gene
expression of 40796 in peripheral blood monocytes:Diabetic retinopathy in
Type 2 diabetes mellitus:Birth weight |
|
7 |
51097063 |
2 |
COBL |
T |
G |
exonic |
nonsynonymous SNV |
COBL:NM_001346442:exon10:c.A1730C:p.D577A,COBL:NM_001346443:exon10:c.A1730C:p.D577A,COBL:NM_015198:exon10:c.A1730C:p.D577A,COBL:NM_001287436:exon11:c.A1901C:p.D634A,COBL:NM_001346441:exon11:c.A1901C:p.D634A |
RS10230120 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio:Refractive error |
|
7 |
51287470 |
1 |
COBL |
A |
G |
exonic |
synonymous SNV |
COBL:NM_001287436:exon2:c.T213C:p.S71S,COBL:NM_001287438:exon2:c.T213C:p.S71S,COBL:NM_001346441:exon2:c.T213C:p.S71S,COBL:NM_001346442:exon2:c.T213C:p.S71S,COBL:NM_001346443:exon2:c.T213C:p.S71S,COBL:NM_001346444:exon2:c.T213C:p.S71S,COBL:NM_015198:exon2:c.T213C:p.S71S |
|
7 |
55863608 |
2 |
14-Sep |
A |
G |
exonic |
stoploss |
SEPT14:NM_207366:exon10:c.T1297C:p.X433Q |
|
7 |
55863609 |
2 |
14-Sep |
T |
C |
exonic |
synonymous SNV |
SEPT14:NM_207366:exon10:c.A1296G:p.K432K |
|
7 |
56126360 |
1 |
CCT6A |
T |
C |
exonic |
synonymous SNV |
CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V |
|
7 |
56136260 |
2 |
SUMF2 |
C |
A |
exonic |
nonsynonymous SNV |
SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E |
|
7 |
64291991 |
2 |
ZNF138 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y |
|
7 |
64438667 |
2 |
ERV3-1-ZNF117;ZNF117 |
G |
A |
exonic |
stopgain |
ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X |
|
7 |
64439613 |
2 |
ERV3-1-ZNF117;ZNF117 |
T |
G |
exonic |
nonsynonymous SNV |
ERV3-1-ZNF117:NM_001348050:exon4:c.A336C:p.K112N,ZNF117:NM_015852:exon4:c.A336C:p.K112N |
RS3807068 |
Fasting
insulin:HOMA-IR:HOMA-B:Methylation levels at chr7:64088310-64088360 [hg18
coord, probe cg00245878] in Caudal pons:Methylation levels at
chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Cerebellum:Gene
expression of VKORC1L1 in peripheral blood monocytes:Gene expression of ERV3
in peripheral blood monocytes:Urinary albumin-to-creatinine ratio |
|
7 |
64439701 |
2 |
ERV3-1-ZNF117;ZNF117 |
C |
T |
exonic |
nonsynonymous SNV |
ERV3-1-ZNF117:NM_001348050:exon4:c.G248A:p.C83Y,ZNF117:NM_015852:exon4:c.G248A:p.C83Y |
RS3807069 |
Fasting
insulin:HOMA-IR:HOMA-B:Methylation levels at chr7:64088310-64088360 [hg18
coord, probe cg00245878] in Caudal pons:Methylation levels at
chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Cerebellum:Urinary
albumin-to-creatinine ratio:Gene expression of ERV3-1 in normal prepouch
ileum |
|
7 |
64451656 |
2 |
ERV3-1 |
G |
A |
exonic |
synonymous SNV |
ERV3-1:NM_001007253:exon2:c.C1749T:p.V583V |
RS4718177 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
7 |
64451699 |
2 |
ERV3-1 |
T |
C |
exonic |
nonsynonymous SNV |
ERV3-1:NM_001007253:exon2:c.A1706G:p.N569S |
RS4717229 |
Gene expression of RABGEF1 in
peripheral blood monocytes:Microalbuminuria:Gene expression of ERV3-1 in
normal prepouch ileum:Salmonella-induced pyroptosis |
|
7 |
64451963 |
2 |
ERV3-1 |
T |
C |
exonic |
nonsynonymous SNV |
ERV3-1:NM_001007253:exon2:c.A1442G:p.N481S |
RS4618579 |
Adiponectin levels |
|
7 |
64453136 |
2 |
ERV3-1 |
G |
A |
exonic |
nonsynonymous SNV |
ERV3-1:NM_001007253:exon2:c.C269T:p.T90I |
RS6460219 |
Adiponectin levels |
|
7 |
72727123 |
1 |
TRIM50 |
A |
T |
exonic |
nonsynonymous SNV |
TRIM50:NM_001281450:exon7:c.T1255A:p.Y419N,TRIM50:NM_001281451:exon7:c.T1258A:p.Y420N,TRIM50:NM_178125:exon7:c.T1258A:p.Y420N |
|
7 |
72891754 |
1 |
BAZ1B |
C |
T |
exonic |
synonymous SNV |
BAZ1B:NM_032408:exon7:c.G2037A:p.S679S |
RS2074754 |
Triglycerides:Differential exon
level expression of BAZ1B [probe 3056088] in peripheral blood mononuclear
cells:Differential exon level expression of BAZ1B [probe 3056088] in brain
cortex:Premature ovarian failure:Gene expression of BCL7B in Lymphoblastoid
cell lines:Alzheimer's disease:Autism:HDL
cholesterol:Triglycerides:Neuroblastoma (brain cancer) |
|
7 |
72985148 |
1 |
TBL2 |
C |
T |
exonic |
nonsynonymous SNV |
TBL2:NM_012453:exon7:c.G1033A:p.V345I |
|
7 |
73020301 |
1 |
MLXIPL |
T |
C |
exonic |
synonymous SNV |
MLXIPL:NM_032951:exon6:c.A759G:p.S253S,MLXIPL:NM_032952:exon6:c.A759G:p.S253S,MLXIPL:NM_032953:exon6:c.A759G:p.S253S,MLXIPL:NM_032954:exon6:c.A759G:p.S253S |
RS799157 |
Total
cholesterol:Triglycerides:Salmonella-induced pyroptosis |
|
7 |
73097720 |
1 |
DNAJC30 |
G |
C |
exonic |
nonsynonymous SNV |
DNAJC30:NM_032317:exon1:c.C34G:p.L12V |
|
7 |
73151644 |
2 |
ABHD11 |
A |
G |
exonic |
synonymous SNV |
ABHD11:NM_001321382:exon4:c.T201C:p.Y67Y,ABHD11:NM_148912:exon4:c.T540C:p.Y180Y,ABHD11:NM_148913:exon4:c.T519C:p.Y173Y |
RS6460052 |
Fasting insulin:Total
cholesterol:Serum creatinine:Gene expression of WBSCR27 in peripheral blood
monocytes:Gene expression of NONO in peripheral blood monocytes:Gene
expression of ABHD11 in peripheral blood monocytes:Autism:HDL cholesterol:LDL
cholesterol:Microalbuminuria:Methylamine:O-Phosphocholine:Gene expression
change of WBSCR22 (ENSG00000071462) in dendritic cells after treatment with
Mycobacterium tuberculosis:Aortic valve calcium:Obesity with early age of
onset (age >2) |
|
7 |
73530159 |
1 |
LIMK1 |
G |
A |
exonic |
nonsynonymous SNV |
LIMK1:NM_001204426:exon12:c.G1336A:p.G446R,LIMK1:NM_002314:exon13:c.G1438A:p.G480R |
|
7 |
73753250 |
1 |
CLIP2 |
T |
C |
exonic |
synonymous SNV |
CLIP2:NM_003388:exon3:c.T594C:p.T198T,CLIP2:NM_032421:exon3:c.T594C:p.T198T |
RS539518 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
7 |
73814749 |
2 |
CLIP2 |
G |
C |
exonic |
nonsynonymous SNV |
CLIP2:NM_032421:exon14:c.G2825C:p.R942P,CLIP2:NM_003388:exon15:c.G2930C:p.R977P |
RS2522943 |
Cystatin C in serum:HDL cholesterol |
|
7 |
73932560 |
1 |
GTF2IRD1 |
A |
G |
exonic |
synonymous SNV |
GTF2IRD1:NM_001199207:exon5:c.A609G:p.E203E,GTF2IRD1:NM_005685:exon5:c.A513G:p.E171E,GTF2IRD1:NM_016328:exon5:c.A513G:p.E171E |
|
7 |
73944185 |
1 |
GTF2IRD1 |
T |
C |
exonic |
synonymous SNV |
GTF2IRD1:NM_001199207:exon9:c.T1308C:p.Y436Y,GTF2IRD1:NM_005685:exon9:c.T1212C:p.Y404Y,GTF2IRD1:NM_016328:exon9:c.T1212C:p.Y404Y |
RS2240357 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy):Diabetic retinopathy in Type 2 diabetes mellitus |
|
7 |
75028240 |
1 |
TRIM73 |
T |
C |
exonic |
nonsynonymous SNV |
TRIM73:NM_198924:exon2:c.T23C:p.L8P |
|
7 |
75028241 |
1 |
TRIM73 |
G |
A |
exonic |
synonymous SNV |
TRIM73:NM_198924:exon2:c.G24A:p.L8L |
|
7 |
75513062 |
2 |
RHBDD2 |
A |
G |
exonic |
synonymous SNV |
RHBDD2:NM_001346188:exon2:c.A225G:p.A75A,RHBDD2:NM_001346189:exon2:c.A189G:p.A63A,RHBDD2:NM_001040456:exon3:c.A633G:p.A211A,RHBDD2:NM_001346187:exon3:c.A210G:p.A70A,RHBDD2:NM_001040457:exon4:c.A210G:p.A70A,RHBDD2:NM_001346186:exon5:c.A210G:p.A70A |
RS42183 |
Triglycerides:Chronic kidney
disease:Cystatin C in serum:Total cholesterol:LDL cholesterol |
|
7 |
75610393 |
1 |
POR |
G |
C |
exonic |
nonsynonymous SNV |
POR:NM_000941:exon6:c.G544C:p.E182Q |
|
7 |
75614953 |
1 |
POR |
T |
C |
exonic |
synonymous SNV |
POR:NM_000941:exon13:c.T1455C:p.A485A |
RS2228104 |
Total cholesterol:Triglycerides:LDL
cholesterol:Birth weight |
|
7 |
75615287 |
1 |
POR |
G |
A |
exonic |
synonymous SNV |
POR:NM_000941:exon14:c.G1716A:p.S572S |
RS1057870 |
Obesity with early age of onset (age
>2) |
|
7 |
75621827 |
2 |
TMEM120A |
A |
G |
exonic |
unknown |
UNKNOWN |
|
7 |
75630274 |
2 |
STYXL1;STYXL1 |
T |
C |
exonic;splicing |
synonymous SNV |
STYXL1:NM_001317787:exon6:c.A456G:p.Q152Q,STYXL1:NM_001317789:exon6:c.A330G:p.Q110Q,STYXL1:NM_001317785:exon8:c.A744G:p.Q248Q,STYXL1:NM_001317786:exon8:c.A744G:p.Q248Q,STYXL1:NM_016086:exon8:c.A744G:p.Q248Q |
RS8565 |
Rheumatoid
arthritis:Triglycerides:Total cholesterol:LDL cholesterol:College
completion:Gene expression of STYXL1 (probeID ILMN_2210729) in cerebellum in
Alzheimer's disease cases and controls:Obesity with early age of onset (age
>2):Gene expression of STYXL1 (probeID ILMN_2210729) in temporal cortex in
Alzheimer's disease cases and controls |
|
7 |
75659815 |
1 |
STYXL1 |
T |
C |
exonic |
synonymous SNV |
STYXL1:NM_001317785:exon2:c.A27G:p.P9P,STYXL1:NM_001317786:exon2:c.A27G:p.P9P,STYXL1:NM_001317787:exon2:c.A27G:p.P9P,STYXL1:NM_001317788:exon2:c.A27G:p.P9P,STYXL1:NM_016086:exon2:c.A27G:p.P9P |
RS1044483 |
Rheumatoid arthritis:LDL
cholesterol:College completion:Parkinson's disease:Obesity with early age of
onset (age >2):Gene expression of STYXL1 (probeID ILMN_2210729) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
STYXL1 (probeID ILMN_2210729) in temporal cortex in Alzheimer's disease cases
and controls |
|
7 |
75677504 |
1 |
MDH2 |
C |
T |
exonic |
nonsynonymous SNV |
MDH2:NM_001282403:exon1:c.C26T:p.A9V,MDH2:NM_005918:exon1:c.C26T:p.A9V |
|
7 |
75959188 |
1 |
YWHAG |
G |
A |
exonic |
synonymous SNV |
YWHAG:NM_012479:exon2:c.C450T:p.S150S |
|
7 |
76131695 |
2 |
DTX2 |
A |
G |
exonic |
synonymous SNV |
DTX2:NM_001102596:exon5:c.A1170G:p.L390L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_020892:exon9:c.A1311G:p.L437L |
|
7 |
76984572 |
1 |
GSAP |
G |
A |
exonic |
synonymous SNV |
GSAP:NM_001350900:exon14:c.C651T:p.C217C,GSAP:NM_001350901:exon14:c.C651T:p.C217C,GSAP:NM_001350898:exon15:c.C1239T:p.C413C,GSAP:NM_001350896:exon16:c.C1296T:p.C432C,GSAP:NM_001350897:exon16:c.C1296T:p.C432C,GSAP:NM_001350899:exon16:c.C1296T:p.C432C,GSAP:NM_017439:exon16:c.C1296T:p.C432C |
RS2037753 |
HOMA-IR:Fasting blood glucose:LDL
cholesterol change with statins:Total cholesterol change with statins |
|
7 |
76990178 |
1 |
GSAP |
C |
G |
exonic |
synonymous SNV |
GSAP:NM_001350900:exon12:c.G345C:p.G115G,GSAP:NM_001350901:exon12:c.G345C:p.G115G,GSAP:NM_001350898:exon13:c.G933C:p.G311G,GSAP:NM_001350896:exon14:c.G990C:p.G330G,GSAP:NM_001350897:exon14:c.G990C:p.G330G,GSAP:NM_001350899:exon14:c.G990C:p.G330G,GSAP:NM_017439:exon14:c.G990C:p.G330G |
RS4727366 |
HOMA-IR:Fasting insulin:Fasting
blood glucose:HOMA-B:LDL cholesterol change with statins:HDL cholesterol:Body
mass index (BMI) |
|
7 |
77247821 |
2 |
PTPN12 |
G |
A |
exonic |
nonsynonymous SNV |
PTPN12:NM_001131009:exon11:c.G574A:p.V192I,PTPN12:NM_001131008:exon12:c.G607A:p.V203I,PTPN12:NM_002835:exon12:c.G964A:p.V322I |
RS9640663 |
Gene expression of probe 244356_at
in lymphoblastoid cell lines:Stabilized warfarin dose:Multiple sclerosis, age
of onset:Differential exon level expression of PTPN12 [probe 3009997] in
brain cortex:Tardive dyskinesia:Serum creatinine:HDL cholesterol:Waist hip
ratio:Body mass index (BMI):Gene expression of TMEM60 in blood:Adiponectin
levels |
|
7 |
77423574 |
2 |
TMEM60 |
G |
A |
exonic |
synonymous SNV |
TMEM60:NM_032936:exon2:c.C117T:p.F39F |
RS7953 |
LDL cholesterol:Serum
creatinine:Height:Waist hip ratio:Systolic blood pressure (SBP):Variant
Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Mitral
annular calcium |
|
7 |
83590852 |
2 |
SEMA3A |
T |
C |
exonic |
synonymous SNV |
SEMA3A:NM_006080:exon17:c.A2151G:p.T717T |
RS797821 |
Serum creatinine:Obesity with early
age of onset (age >2) |
|
7 |
86800351 |
2 |
DMTF1 |
A |
G |
exonic |
synonymous SNV |
DMTF1:NM_001142326:exon4:c.A9G:p.A3A,DMTF1:NM_001142327:exon5:c.A273G:p.A91A,DMTF1:NM_021145:exon7:c.A273G:p.A91A |
RS3747807 |
Eye color:Differential exon level
expression of DMTF1 [probe 3011273] in brain cortex:Differential exon level
expression of DMTF1 [probe 3011273] in peripheral blood mononuclear cells:HDL
cholesterol:Gene expression of TP53AP1 in peripheral blood monocytes:Triglycerides:Body
mass index (BMI):Gene expression of DMTF1///C7orf23 in blood |
|
7 |
86813831 |
1 |
DMTF1 |
C |
G |
exonic |
synonymous SNV |
DMTF1:NM_001142326:exon10:c.C675G:p.V225V,DMTF1:NM_001142327:exon11:c.C939G:p.V313V,DMTF1:NM_021145:exon13:c.C939G:p.V313V |
RS11974238 |
Total cholesterol:Cystatin C in
serum |
|
7 |
87138645 |
2 |
ABCB1 |
A |
G |
exonic |
synonymous SNV |
ABCB1:NM_001348946:exon26:c.T3435C:p.I1145I,ABCB1:NM_000927:exon27:c.T3435C:p.I1145I,ABCB1:NM_001348944:exon28:c.T3435C:p.I1145I,ABCB1:NM_001348945:exon30:c.T3645C:p.I1215I |
RS1045642 |
Generalized aggressive
periodontitis:HDL cholesterol change with statins:Urinary
albumin-to-creatinine ratio:Cognitive response of healthy volunteers to
topiramate treatment as measure by the Digit Span Backward cognitive test:LDL
cholesterol:HIV-1 acquisition :Obesity with early age of onset (age
>2):LDL cholesterol response after 40mg daily simvastatin treatment |
|
7 |
87160618 |
2 |
ABCB1 |
A |
C |
exonic |
nonsynonymous SNV |
ABCB1:NM_001348946:exon21:c.T2677G:p.S893A,ABCB1:NM_000927:exon22:c.T2677G:p.S893A,ABCB1:NM_001348944:exon23:c.T2677G:p.S893A,ABCB1:NM_001348945:exon25:c.T2887G:p.S963A |
RS2032582 |
2 hour glucose:Height:Comorbid
depressive syndrome and alcohol dependence:Bipolar disorder |
|
7 |
87179601 |
2 |
ABCB1 |
A |
G |
exonic |
synonymous SNV |
ABCB1:NM_001348946:exon12:c.T1236C:p.G412G,ABCB1:NM_000927:exon13:c.T1236C:p.G412G,ABCB1:NM_001348944:exon14:c.T1236C:p.G412G,ABCB1:NM_001348945:exon16:c.T1446C:p.G482G |
RS1128503 |
2 hour glucose:Comorbid depressive
syndrome and alcohol dependence:Cognitive response to topiramate treatment as
measured by the Animals cognitive test:Cognitive response of healthy
volunteers to topiramate treatment as measure by the Digit Symbol cognitive
test:Cognitive response to topiramate treatment:Peak concentrations of active
metabolite of dabigatran etexilate after treatment with dabigatran etexilate |
|
7 |
89854446 |
2 |
STEAP2 |
T |
G |
exonic |
nonsynonymous SNV |
STEAP2:NM_001244945:exon2:c.T50G:p.F17C,STEAP2:NM_152999:exon2:c.T50G:p.F17C,STEAP2:NM_001040665:exon3:c.T50G:p.F17C,STEAP2:NM_001040666:exon3:c.T50G:p.F17C,STEAP2:NM_001244944:exon3:c.T50G:p.F17C,STEAP2:NM_001244946:exon3:c.T50G:p.F17C |
RS194520 |
Gene expression of GTPBP10 [probe
234311_s_at] in lymphoblastoid cell lines:Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Fasting blood glucose:HOMA-B:Partial
epilepsy:Advanced age-related macular degeneration (geographic
atrophy):Fasting blood glucose |
|
7 |
89856608 |
2 |
STEAP2 |
C |
T |
exonic |
synonymous SNV |
STEAP2:NM_001244945:exon3:c.C816T:p.L272L,STEAP2:NM_152999:exon3:c.C816T:p.L272L,STEAP2:NM_001040665:exon4:c.C816T:p.L272L,STEAP2:NM_001040666:exon4:c.C816T:p.L272L,STEAP2:NM_001244944:exon4:c.C816T:p.L272L,STEAP2:NM_001244946:exon4:c.C816T:p.L272L |
RS110360 |
Gene expression of GTPBP10 [probe
234311_s_at] in lymphoblastoid cell lines:Fasting blood
glucose:HOMA-B:Advanced age-related macular degeneration (geographic atrophy) |
|
7 |
89856644 |
1 |
STEAP2 |
C |
T |
exonic |
synonymous SNV |
STEAP2:NM_001244945:exon3:c.C852T:p.Y284Y,STEAP2:NM_152999:exon3:c.C852T:p.Y284Y,STEAP2:NM_001040665:exon4:c.C852T:p.Y284Y,STEAP2:NM_001040666:exon4:c.C852T:p.Y284Y,STEAP2:NM_001244944:exon4:c.C852T:p.Y284Y,STEAP2:NM_001244946:exon4:c.C852T:p.Y284Y |
RS2016903 |
Gene expression of HMHA1 in
peripheral blood monocytes:Urea concentration:Years of education:College
completion |
|
7 |
89861890 |
2 |
STEAP2 |
G |
T |
exonic |
nonsynonymous SNV |
STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I |
RS194525 |
Fasting blood glucose:HDL
cholesterol change with statins:Partial epilepsy:Birth weight:Gene expression
of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease
samples:Years of education:Gene expression of STEAP2 in normal prepouch ileum:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum
in Alzheimer's disease cases and controls:Aortic valve calcium:Gene
expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum
in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID
ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in
cerebellum in Alzheimer's disease cases and controls |
|
7 |
89983808 |
2 |
GTPBP10 |
T |
G |
exonic |
nonsynonymous SNV |
GTPBP10:NM_033107:exon3:c.T264G:p.C88W |
RS42663 |
Fasting blood glucose:HDL
cholesterol change with statins:Methylation levels at chr7:89678667-89678717
[hg18 coord, probe cg27626102] in Cerebellum:Triglycerides:Aortic valve
calcium:Birth weight |
|
7 |
91503228 |
1 |
MTERF1 |
C |
T |
exonic |
nonsynonymous SNV |
MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T |
RS10266424 |
Gene expression of AKAP9 [probe
215483_at] in lymphoblastoid cell lines:Height:Infant head
circumference:Advanced age-related macular degeneration:College completion |
|
7 |
91632306 |
2 |
AKAP9 |
C |
T |
exonic |
synonymous SNV |
AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T |
RS1989779 |
Cystatin C in serum:Height:Years of
education |
|
7 |
91714911 |
2 |
AKAP9 |
C |
T |
exonic |
nonsynonymous SNV |
AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S |
|
7 |
91743150 |
1 |
CYP51A1 |
A |
G |
exonic |
synonymous SNV |
CYP51A1:NM_000786:exon10:c.T1359C:p.H453H,CYP51A1:NM_001146152:exon10:c.T1044C:p.H348H |
RS7797834 |
Gene expression of AKAP9 [probe
215483_at] in lymphoblastoid cell lines:Height:Infant head
circumference:College completion:Aortic valve calcium |
|
7 |
92028039 |
1 |
ANKIB1 |
C |
A |
exonic |
nonsynonymous SNV |
ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M |
RS38794 |
Gene expression of AKAP9 [probe
215483_at] in lymphoblastoid cell lines:Triglycerides:HOMA-B:Aortic valve
calcium |
|
7 |
92131289 |
2 |
PEX1 |
G |
T |
exonic |
synonymous SNV |
PEX1:NM_001282677:exon13:c.C2160A:p.G720G,PEX1:NM_000466:exon14:c.C2331A:p.G777G,PEX1:NM_001282678:exon14:c.C1707A:p.G569G |
|
7 |
92970847 |
2 |
VPS50 |
C |
T |
exonic |
synonymous SNV |
VPS50:NM_017667:exon23:c.C2167T:p.L723L,VPS50:NM_001257998:exon24:c.C2077T:p.L693L |
RS2106432 |
HOMA-B:Asthma:Gene expression of
SAMD9L in blood |
|
7 |
92985252 |
2 |
VPS50 |
T |
C |
exonic |
synonymous SNV |
VPS50:NM_017667:exon27:c.T2635C:p.L879L,VPS50:NM_001257998:exon28:c.T2545C:p.L849L |
RS2374639 |
HOMA-B:HOMA-IR |
|
7 |
94937446 |
2 |
PON1 |
T |
C |
exonic |
nonsynonymous SNV |
PON1:NM_000446:exon6:c.A575G:p.Q192R |
RS662 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Rheumatoid arthritis:Variant
Creutzfeldt-Jakob disease:Age at death with kuru exposure:Serum arylesterase
activity:Serum metabolite (mass spec peak: 237 m/z):Parkinson's
disease:Stroke:Serum metabolite (mass spec peak: 209.1 m/z):Serum paraoxonase
activity |
|
7 |
95001555 |
2 |
PON3 |
C |
T |
exonic |
synonymous SNV |
PON3:NM_000940:exon4:c.G297A:p.A99A |
RS1053275 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Rheumatoid arthritis:Major depressive
disorder:Total cholesterol:Gene expression of PON2 in blood:Bipolar
disorder:Infant head circumference:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of PON2 in normal prepouch ileum:Gene
expression of PON3 in normal prepouch ileum:Gene expression of PON1 in normal
prepouch ileum |
|
7 |
95025600 |
1 |
PON3 |
G |
A |
exonic |
synonymous SNV |
PON3:NM_000940:exon1:c.C63T:p.F21F |
RS13226149 |
Total cholesterol:LDL
cholesterol:Gene expression of PON2 in blood:Serum metabolite (mass spec
peak: 209.1 m/z):Gene expression of PON1 in normal prepouch ileum:Infant head
circumference:Advanced age-related macular degeneration:Parkinson's
disease:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of PON3 in normal prepouch ileum |
|
7 |
95034775 |
1 |
PON2 |
G |
C |
exonic |
nonsynonymous SNV |
PON2:NM_000305:exon9:c.C932G:p.S311C,PON2:NM_001018161:exon9:c.C896G:p.S299C |
RS7493 |
LDL cholesterol:Gene expression of
PON2 in peripheral blood monocytes:Total cholesterol:Variant
Creutzfeldt-Jakob disease:Serum metabolite (mass spec peak: 209.1 m/z) |
|
7 |
95041016 |
1 |
PON2 |
G |
C |
exonic |
nonsynonymous SNV |
PON2:NM_000305:exon5:c.C443G:p.A148G,PON2:NM_001018161:exon5:c.C407G:p.A136G |
RS12026 |
LDL cholesterol:Serum metabolite
(mass spec peak: 209.1 m/z) |
|
7 |
97488569 |
1 |
ASNS |
A |
T |
exonic |
nonsynonymous SNV |
ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E |
RS1049674 |
APOB (apolipoprotein B):Body mass
index (BMI) |
|
7 |
97822210 |
1 |
LMTK2 |
G |
A |
exonic |
synonymous SNV |
LMTK2:NM_014916:exon11:c.G2433A:p.P811P |
RS3801294 |
Gene expression of HSD17B8 [probe
213540_at] in lymphoblastoid cell lines:Triglycerides:Salmonella-induced
pyroptosis |
|
7 |
97922851 |
1 |
BAIAP2L1 |
C |
T |
exonic |
synonymous SNV |
BAIAP2L1:NM_018842:exon14:c.G1518A:p.S506S |
RS12728 |
Triglycerides:Advanced age-related
macular degeneration (geographic atrophy) |
|
7 |
97922875 |
1 |
BAIAP2L1 |
G |
A |
exonic |
synonymous SNV |
BAIAP2L1:NM_018842:exon14:c.C1494T:p.R498R |
RS13008 |
Triglycerides:Gene expression of
DKFZP434B0335 in peripheral blood monocytes:Gene expression of BRI3 in
peripheral blood monocytes:Gene expression of MDFIC in peripheral blood
monocytes:Asthma:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts
treated with PGE2:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts
treated with BMP2:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts
treated with dexamethasone:Gene expression of BRI3 in blood:Gene expression
of AC091654.4 in blood:Variant Creutzfeldt-Jakob disease:Advanced age-related
macular degeneration (geographic atrophy) |
|
7 |
97933601 |
2 |
BAIAP2L1 |
C |
T |
exonic |
synonymous SNV |
BAIAP2L1:NM_018842:exon12:c.G1329A:p.L443L |
RS1045916 |
HOMA-B:Cystatin C in serum:College
completion |
|
7 |
99032458 |
1 |
ATP5J2-PTCD1;PTCD1 |
C |
T |
exonic |
synonymous SNV |
PTCD1:NM_015545:exon2:c.G408A:p.P136P,ATP5J2-PTCD1:NM_001198879:exon3:c.G555A:p.P185P |
|
7 |
99047978 |
1 |
CPSF4 |
T |
C |
exonic |
synonymous SNV |
CPSF4:NM_001081559:exon4:c.T387C:p.R129R,CPSF4:NM_001318160:exon4:c.T387C:p.R129R,CPSF4:NM_001318161:exon4:c.T387C:p.R129R,CPSF4:NM_001318162:exon4:c.T228C:p.R76R,CPSF4:NM_006693:exon4:c.T387C:p.R129R |
RS883403 |
Fasting blood glucose:Cystatin C in
serum:Rheumatoid arthritis:Height:Serum dehydroepiandrosterone sulphate
(DHEAS):Serum dehydroepiandrosterone sulphate (DHEAS) (males):Serum
dehydroepiandrosterone sulphate (DHEAS) (females):Adiponectin levels |
|
7 |
99123885 |
1 |
ZKSCAN5 |
G |
A |
exonic |
nonsynonymous SNV |
ZKSCAN5:NM_001318083:exon4:c.G1003A:p.G335R,ZKSCAN5:NM_001318084:exon4:c.G430A:p.G144R,ZKSCAN5:NM_001318082:exon6:c.G1222A:p.G408R,ZKSCAN5:NM_014569:exon6:c.G1222A:p.G408R,ZKSCAN5:NM_145102:exon6:c.G1222A:p.G408R |
|
7 |
99128918 |
1 |
ZKSCAN5 |
A |
G |
exonic |
synonymous SNV |
ZKSCAN5:NM_001318083:exon5:c.A1347G:p.L449L,ZKSCAN5:NM_001318084:exon5:c.A774G:p.L258L,ZKSCAN5:NM_001318082:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_014569:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_145102:exon7:c.A1566G:p.L522L |
|
7 |
99217424 |
1 |
ZSCAN25 |
G |
A |
exonic |
synonymous SNV |
ZSCAN25:NM_001350979:exon2:c.G195A:p.E65E,ZSCAN25:NM_001350985:exon2:c.G195A:p.E65E,ZSCAN25:NM_001350984:exon4:c.G195A:p.E65E,ZSCAN25:NM_001350986:exon4:c.G195A:p.E65E,ZSCAN25:NM_145115:exon4:c.G195A:p.E65E,ZSCAN25:NM_001350980:exon5:c.G195A:p.E65E |
RS10282706 |
Total cholesterol:HDL cholesterol
change with statins:HDL cholesterol |
|
7 |
99227172 |
1 |
ZSCAN25 |
A |
G |
exonic |
synonymous SNV |
ZSCAN25:NM_001350979:exon6:c.A1164G:p.E388E,ZSCAN25:NM_001350981:exon8:c.A672G:p.E224E,ZSCAN25:NM_001350983:exon8:c.A672G:p.E224E,ZSCAN25:NM_145115:exon8:c.A1164G:p.E388E,ZSCAN25:NM_001350980:exon9:c.A1164G:p.E388E,ZSCAN25:NM_001350982:exon9:c.A672G:p.E224E |
RS1859690 |
Gene expression of ATP5J2 [probe
ILMN_13901] in osteoblasts:Total cholesterol:HDL cholesterol change with
statins:HDL cholesterol:Gene expression of ARPC1B in blood:Gene expression of
BUD31 in blood:Gene expression of CYP3A5 in liver:Primary rhegmatogenous
retinal detachment:Tetrology of fallot |
|
7 |
99500899 |
1 |
TRIM4 |
T |
C |
exonic |
synonymous SNV |
TRIM4:NM_033091:exon5:c.A783G:p.V261V,TRIM4:NM_033017:exon6:c.A861G:p.V287V |
RS2247762 |
Triglycerides change with
statins:Advanced age-related macular degeneration:Years of education |
|
7 |
99500911 |
1 |
TRIM4 |
A |
G |
exonic |
synonymous SNV |
TRIM4:NM_033091:exon5:c.T771C:p.S257S,TRIM4:NM_033017:exon6:c.T849C:p.S283S |
RS2247761 |
Gene expression of TRIM4 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Simpson-Angus Scale:Triglycerides
change with statins:Gene expression of PILRB in peripheral blood
monocytes:Gene expression of TRIM4 in peripheral blood monocytes:Total
cholesterol:College completion:Gene expression of TRIM4 (probeID
ILMN_2323385) in breast tumors:Years of education |
|
7 |
99569394 |
1 |
AZGP1 |
G |
A |
exonic |
synonymous SNV |
AZGP1:NM_001185:exon2:c.C312T:p.I104I |
|
7 |
99654689 |
1 |
ZSCAN21 |
G |
A |
exonic |
synonymous SNV |
ZSCAN21:NM_145914:exon2:c.G60A:p.Q20Q |
RS11558476 |
Urinary albumin-to-creatinine
ratio:Gene expression of ZSCAN21 in liver:Bipolar disorder:Advanced
age-related macular degeneration:Gene expression change of C7orf59
(ENSG00000188186) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
7 |
99693078 |
1 |
MCM7 |
G |
A |
exonic |
synonymous SNV |
MCM7:NM_001278595:exon11:c.C1083T:p.I361I,MCM7:NM_182776:exon11:c.C1083T:p.I361I,MCM7:NM_005916:exon12:c.C1611T:p.I537I |
|
7 |
99696797 |
1 |
MCM7 |
T |
C |
exonic |
nonsynonymous SNV |
MCM7:NM_005916:exon5:c.A431G:p.N144S |
RS2070215 |
Gene expression of ZKSCAN1 [probe
3015147] in peripheral blood mononuclear cells:Tardive
dyskinesia:Triglycerides change with statins:Rheumatoid arthritis:Partial
epilepsy:Total cholesterol:Triglycerides:Gene expression of TAF6 [probe
ILMN_3330] in osteoblasts treated with BMP2:Gene expression of TAF6 [probe
ILMN_3330] in osteoblasts treated with bmp:Gene expression of
STAG3///PVRIG///AC073842.5 in blood:Gene expression of CNPY4 in blood:Gene
expression of C7orf59///C7orf43 in blood:Gene expression of AC073842.5///STAG3
in blood:Gene expression of TRIM4 in blood:Gene expression of hsa-miR-93 in
abdominal adipose:Obesity with early age of onset (age >2):Advanced
age-related macular degeneration:Gene expression of ZKSCAN1 (probeID
ILMN_2139052) in cerebellum in Alzheimer's disease cases and controls:Birth
weight:Advanced age-related macular degeneration (geographic atrophy):Years
of education |
|
7 |
99747130 |
1 |
LAMTOR4 |
G |
A |
exonic |
synonymous SNV |
LAMTOR4:NM_001008395:exon2:c.G12A:p.A4A,LAMTOR4:NM_001318236:exon2:c.G12A:p.A4A |
RS12878 |
Chronic kidney disease:Serum
creatinine:Gene expression of ZKSCAN1 in peripheral blood monocytes:Gene
expression of ZSCAN21 in peripheral blood monocytes:Gene expression of AP4M1
in peripheral blood monocytes:Microalbuminuria:Birth weight |
|
7 |
99799845 |
2 |
STAG3 |
T |
A |
exonic |
synonymous SNV |
STAG3:NM_001282718:exon22:c.T2271A:p.I757I,STAG3:NM_001282716:exon24:c.T2445A:p.I815I,STAG3:NM_001282717:exon24:c.T2445A:p.I815I,STAG3:NM_012447:exon24:c.T2445A:p.I815I |
RS1043915 |
LDL cholesterol change with
statins:Total cholesterol:Gene expression of STAG3 in normal prepouch
ileum:Birth weight:Obesity with early age of onset (age >2):Advanced
age-related macular degeneration (geographic atrophy):Gene expression of GATS
(probeID ILMN_1699631) in temporal cortex in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration |
|
7 |
100281768 |
2 |
GIGYF1 |
T |
C |
exonic |
synonymous SNV |
GIGYF1:NM_022574:exon15:c.A1743G:p.P581P |
RS221794 |
Serum creatinine:Total
cholesterol:Height:Red blood cell count (RBC):Mean corpuscular hemoglobin
concentration (MCHC):Heart rate |
|
7 |
100285476 |
1 |
GIGYF1 |
C |
T |
exonic |
nonsynonymous SNV |
GIGYF1:NM_022574:exon3:c.G196A:p.A66T |
|
7 |
100416250 |
2 |
EPHB4 |
A |
G |
exonic |
synonymous SNV |
EPHB4:NM_004444:exon7:c.T1314C:p.S438S |
RS144173 |
Total cholesterol:Gene expression
of MOSPD3 in blood:Gene expression of TRIP6 in blood:Gene expression of EPHB4
in blood:Gene expression of AC011895.4///UFSP1 in blood:Diastolic blood
pressure (DBP) |
|
7 |
100458795 |
2 |
SLC12A9 |
T |
C |
exonic |
synonymous SNV |
SLC12A9:NM_001267814:exon8:c.T987C:p.A329A,SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A |
RS314378 |
Total cholesterol:Diastolic blood
pressure (DBP):Bipolar disorder |
|
7 |
100482026 |
2 |
SRRT |
T |
C |
exonic |
synonymous SNV |
SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L |
RS15624 |
Adiponectin levels |
|
7 |
100486656 |
2 |
UFSP1 |
T |
G |
exonic |
synonymous SNV |
UFSP1:NM_001015072:exon1:c.A237C:p.V79V |
RS13241786 |
Total cholesterol:Diastolic blood
pressure (DBP):Bipolar disorder |
|
7 |
101916647 |
2 |
CUX1 |
A |
G |
exonic |
synonymous SNV |
CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A |
|
7 |
102087202 |
1 |
ORAI2 |
T |
C |
exonic |
synonymous SNV |
ORAI2:NM_001271819:exon3:c.T237C:p.L79L,ORAI2:NM_032831:exon3:c.T468C:p.L156L,ORAI2:NM_001126340:exon4:c.T468C:p.L156L,ORAI2:NM_001271818:exon4:c.T468C:p.L156L |
RS1129271 |
Gene expression of LRWD1 in
peripheral blood monocytes:Gene expression of RASA4 in peripheral blood
monocytes:Maternal transmission distortion:Transmission distortion |
|
7 |
102112980 |
1 |
LRWD1 |
G |
A |
exonic |
synonymous SNV |
LRWD1:NM_001317721:exon13:c.G1158A:p.T386T,LRWD1:NM_152892:exon13:c.G1614A:p.T538T |
|
7 |
102279621 |
1 |
UPK3BL1 |
C |
T |
exonic |
nonsynonymous SNV |
UPK3BL1:NM_001114403:exon4:c.G511A:p.E171K |
|
7 |
102389669 |
1 |
FAM185A |
C |
T |
exonic |
synonymous SNV |
FAM185A:NM_001145268:exon1:c.C15T:p.C5C,FAM185A:NM_001145269:exon1:c.C15T:p.C5C,FAM185A:NM_001350987:exon1:c.C15T:p.C5C |
|
7 |
102389833 |
2 |
FAM185A |
G |
C |
exonic |
nonsynonymous SNV |
FAM185A:NM_001145268:exon1:c.G179C:p.G60A,FAM185A:NM_001145269:exon1:c.G179C:p.G60A,FAM185A:NM_001350987:exon1:c.G179C:p.G60A |
|
7 |
102743893 |
2 |
NAPEPLD |
C |
T |
exonic |
nonsynonymous SNV |
NAPEPLD:NM_001122838:exon5:c.G1165A:p.D389N,NAPEPLD:NM_198990:exon5:c.G1165A:p.D389N |
RS3181009 |
Gene expression of SVH in YRI
lymphoblastoid cell lines |
|
7 |
102952123 |
1 |
PMPCB |
G |
T |
exonic |
nonsynonymous SNV |
PMPCB:NM_004279:exon10:c.G1188T:p.E396D |
RS3087615 |
Response to anti-TNF treatment for
rheumatoid arthritis (change in Disease Activity Score (DAS28)):Gene
expression of ARMC10 in blood |
|
7 |
103007949 |
2 |
PSMC2 |
A |
C |
exonic |
synonymous SNV |
PSMC2:NM_002803:exon10:c.A934C:p.R312R |
|
7 |
105903904 |
2 |
NAMPT |
T |
C |
exonic |
synonymous SNV |
NAMPT:NM_005746:exon7:c.A903G:p.S301S |
|
7 |
107569517 |
2 |
LAMB1 |
A |
G |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon31:c.T4879C:p.L1627L |
|
7 |
107593989 |
2 |
LAMB1 |
T |
C |
exonic |
nonsynonymous SNV |
LAMB1:NM_002291:exon22:c.A3065G:p.Q1022R |
RS20556 |
Gene expression of DLD
(ENSG00000091140) in dendritic cells:Hypertension (early onset
hypertension):Obsessive-compulsive disorder (OCD):College completion:Infant
head circumference |
|
7 |
107603431 |
2 |
LAMB1 |
A |
C |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon15:c.T1776G:p.P592P |
RS2230156 |
Salmonella-induced pyroptosis |
|
7 |
107615506 |
1 |
LAMB1 |
C |
T |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon12:c.G1407A:p.G469G |
|
7 |
107626770 |
1 |
LAMB1 |
G |
A |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon6:c.C462T:p.S154S |
|
7 |
116397572 |
1 |
MET |
A |
G |
exonic |
synonymous SNV |
MET:NM_001324402:exon6:c.A654G:p.Q218Q,MET:NM_000245:exon7:c.A1944G:p.Q648Q,MET:NM_001127500:exon7:c.A1944G:p.Q648Q,MET:NM_001324401:exon7:c.A1944G:p.Q648Q |
RS13223756 |
Triglycerides:HOMA-B:Childhood
acute lymphoblastic leukemia:Cystatin C in serum:Emphysema (in chronic
obstructive pulmonary disease patients):Diastolic blood pressure
(DBP):Resistance to kuru in aged women despite likely exposure:Transmission
distortion |
|
7 |
116528240 |
2 |
CAPZA2 |
C |
T |
exonic |
synonymous SNV |
CAPZA2:NM_006136:exon2:c.C99T:p.F33F |
RS4808 |
Triglycerides change with
statins:Cystatin C in serum:Gene expression of CAPZA2 in peripheral blood
monocytes |
|
7 |
120740103 |
2 |
CPED1 |
G |
T |
exonic |
synonymous SNV |
CPED1:NM_001105533:exon6:c.G873T:p.T291T,CPED1:NM_024913:exon7:c.G873T:p.T291T |
RS798937 |
Spine bone mineral density
(BMD):Total cholesterol:Height:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease |
|
7 |
120764477 |
2 |
CPED1 |
G |
C |
exonic |
synonymous SNV |
CPED1:NM_001105533:exon7:c.G1011C:p.A337A,CPED1:NM_024913:exon8:c.G1011C:p.A337A |
RS1524498 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Total cholesterol:Total body bone
mineral density (BMD):Advanced age-related macular degeneration |
|
7 |
122078414 |
1 |
CADPS2 |
T |
G |
exonic |
synonymous SNV |
CADPS2:NM_001009571:exon16:c.A2448C:p.T816T,CADPS2:NM_001167940:exon17:c.A2457C:p.T819T,CADPS2:NM_017954:exon17:c.A2457C:p.T819T |
RS2074589 |
Spine bone mineral density
(BMD):Fasting blood glucose:PROP taste detection threshold:Sporadic
Creutzfeldt-Jakob disease:Infant head circumference:Parkinson's
disease:Maternal transmission distortion |
|
7 |
122303321 |
2 |
CADPS2 |
C |
T |
exonic |
synonymous SNV |
CADPS2:NM_001009571:exon3:c.G756A:p.L252L,CADPS2:NM_001167940:exon3:c.G756A:p.L252L,CADPS2:NM_017954:exon3:c.G756A:p.L252L |
RS2251761 |
Premature ovarian failure:Acute lung
injury following major trauma |
|
7 |
123388732 |
1 |
WASL |
G |
A |
exonic |
synonymous SNV |
WASL:NM_003941:exon1:c.C57T:p.S19S |
|
7 |
127721507 |
2 |
SND1 |
T |
C |
exonic |
synonymous SNV |
SND1:NM_014390:exon18:c.T2064C:p.T688T |
RS322825 |
Body mass index (BMI):Parkinson's
disease:Years of education |
|
7 |
128038555 |
1 |
IMPDH1 |
C |
G |
exonic |
synonymous SNV |
IMPDH1:NM_001142575:exon6:c.G657C:p.L219L,IMPDH1:NM_001142573:exon7:c.G732C:p.L244L,IMPDH1:NM_001142574:exon7:c.G717C:p.L239L,IMPDH1:NM_001304521:exon7:c.G780C:p.L260L,IMPDH1:NM_183243:exon8:c.G879C:p.L293L,IMPDH1:NM_001102605:exon9:c.G957C:p.L319L,IMPDH1:NM_001142576:exon9:c.G888C:p.L296L,IMPDH1:NM_000883:exon10:c.G987C:p.L329L |
|
7 |
128040474 |
1 |
IMPDH1 |
G |
A |
exonic |
synonymous SNV |
IMPDH1:NM_001142575:exon4:c.C369T:p.G123G,IMPDH1:NM_001142573:exon5:c.C444T:p.G148G,IMPDH1:NM_001142574:exon5:c.C429T:p.G143G,IMPDH1:NM_001304521:exon5:c.C492T:p.G164G,IMPDH1:NM_183243:exon6:c.C591T:p.G197G,IMPDH1:NM_001102605:exon7:c.C669T:p.G223G,IMPDH1:NM_001142576:exon7:c.C600T:p.G200G,IMPDH1:NM_000883:exon8:c.C699T:p.G233G |
|
7 |
128141865 |
1 |
METTL2B |
T |
C |
exonic |
synonymous SNV |
METTL2B:NM_018396:exon9:c.T1032C:p.N344N |
RS1053124 |
Gene expression of IMPDH1 in
peripheral blood monocytes:Gene expression of SLC25A43 in peripheral blood
monocytes:Triglycerides |
|
7 |
128607384 |
1 |
TNPO3 |
G |
A |
exonic |
synonymous SNV |
TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A |
RS8043 |
Gene expression of IRF5 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting
insulin:Triglycerides change with statins:Total cholesterol change with
statins:Body mass index (BMI):Systolic blood pressure (SBP):Gene expression
of IRF5 (probeID ILMN_1670576) in whole blood:Gene expression of IRF5
(probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases and
controls:Adiponectin levels:Diabetic retinopathy in Type 2 diabetes
mellitus:Gene expression of IRF5 (probeID ILMN_2312606) in cerebellum in
Alzheimer's disease cases and controls |
|
7 |
128641226 |
1 |
TNPO3 |
G |
C |
exonic |
synonymous SNV |
TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L |
RS2305324 |
Parkinson's disease (PD):Gene
expression of IRF5 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression
of TNIP3 in CHB-JPT lymphoblastoid cell lines:Gene expression of IRF5 [probe
205469_s_at] in lymphoblastoid cell lines:Gene expression of IRF5 [probe
239412_at] in lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting
insulin:Triglycerides change with statins:Waist hip ratio:Systolic blood
pressure (SBP):Adiponectin levels:Gene expression of IRF5 (probeID
ILMN_2312606) in cerebellum in Alzheimer's disease cases and
controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of
IRF5 (probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases
and controls |
|
7 |
128846328 |
2 |
SMO |
G |
C |
exonic |
synonymous SNV |
SMO:NM_005631:exon6:c.G1164C:p.G388G |
RS2228617 |
HDL cholesterol:HDL cholesterol
change with statins:Rheumatoid arthritis:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age
>2) |
|
7 |
129297332 |
1 |
NRF1 |
T |
G |
exonic |
synonymous SNV |
NRF1:NM_001040110:exon2:c.T141G:p.S47S,NRF1:NM_001293163:exon2:c.T141G:p.S47S,NRF1:NM_005011:exon2:c.T141G:p.S47S |
RS1882094 |
HDL cholesterol:Premature ovarian
failure:Biploar disorder (bipolar schizoaffective disorder):Major depressive
disorder (narrow definition) (females):Major depressive disorder (narrow
definition):Major depressive disorder:Recurrent early onset major depressive
disorder:Recurrent early onset major depressive disorder (females):Late onset
Alzheimer's disease:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy):College completion |
|
7 |
129663496 |
1 |
ZC3HC1 |
C |
T |
exonic |
nonsynonymous SNV |
ZC3HC1:NM_016478:exon8:c.G1088A:p.R363H,ZC3HC1:NM_001282190:exon9:c.G1025A:p.R342H |
RS11556924 |
Coronary artery disease
(CAD):Total cholesterol:Total cholesterol change with statins:Gene expression
of KIAA0265 [probe 209255_at] in prefrontal cortex:HDL cholesterol:LDL
cholesterol:Coronary artery disease (CAD):Body mass index (BMI):LDL
cholesterol:Coronary artery disease (CAD) with age of onset >50:Coronary
artery disease (CAD) (men):Coronary artery disease (CAD) with age of onset
<=50:Coronary artery disease (CAD) (women):Coronary artery disease (CAD)
by angiography:Myocardial infarction (MI):Presence of carotid artery
plaque:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary
artery disease (CAD):Comorbid depressive syndrome and alcohol
dependence:Systolic blood pressure (SBP):Coronary artery disease
(CAD):Parkinson's disease:Birth weight:Adiponectin levels:Transmission
distortion:LDL cholesterol:Diastolic blood pressure (DBP):Coronary artery
disease (CAD) age >50:HDL cholesterol:Coronary artery disease
(CAD):Coronary artery disease (CAD):Coronary artery disease (CAD)
(females):Coronary artery calcification (CAC):Coronary artery disease (CAD)
age <=50:Coronary artery disease (CAD) (males):Coronary artery disease
(CAD) with myocardial infarction (MI) |
|
7 |
129664312 |
1 |
ZC3HC1 |
T |
C |
exonic |
nonsynonymous SNV |
ZC3HC1:NM_001282191:exon7:c.A811G:p.T271A,ZC3HC1:NM_016478:exon7:c.A811G:p.T271A,ZC3HC1:NM_001282190:exon8:c.A748G:p.T250A |
RS1464890 |
LDL
cholesterol:Schizophrenia:Differential exon level expression of ZC3HC1 [probe
3072383] in peripheral blood mononuclear cells:Differential exon level
expression of ZC3HC1 [probe 3072383] in brain cortex:2 hour glucose:Total
cholesterol change with statins:Total cholesterol:HDL cholesterol change with
statins:Neuroblastoma (brain cancer):Diastolic blood pressure (DBP):Systolic
blood pressure (SBP):Parkinson's disease:Hypertension (early onset
hypertension):Coronary artery disease (CAD):Adiponectin levels |
|
7 |
130408745 |
2 |
|
7 |
133749164 |
2 |
EXOC4 |
G |
A |
exonic |
synonymous SNV |
EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q |
RS6953296 |
HDL cholesterol:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:College completion |
|
7 |
134215403 |
1 |
AKR1B10 |
T |
C |
exonic |
synonymous SNV |
AKR1B10:NM_020299:exon2:c.T75C:p.L25L |
RS1722883 |
Triglycerides:HDL
cholesterol:Rheumatoid arthritis:Fasting blood glucose:Cystatin C in
serum:Gene expression of AKR1B1 in peripheral blood
monocytes:Triglycerides:Gene expression of AKR1B1 in blood:Infant head
circumference:Salmonella-induced pyroptosis |
|
7 |
134225827 |
2 |
AKR1B10 |
A |
G |
exonic |
nonsynonymous SNV |
AKR1B10:NM_020299:exon10:c.A937G:p.N313D |
RS4728329 |
HDL cholesterol:Alanine
aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic
breast cancer:Infant head circumference:Coronary artery disease (CAD) |
|
7 |
134849213 |
1 |
TMEM140 |
G |
A |
exonic |
nonsynonymous SNV |
TMEM140:NM_018295:exon2:c.G20A:p.R7Q |
RS3800592 |
Triglycerides change with
statins:Years of education:Parkinson's disease:College completion |
|
7 |
134849280 |
2 |
TMEM140 |
T |
A |
exonic |
nonsynonymous SNV |
TMEM140:NM_018295:exon2:c.T87A:p.F29L |
RS292501 |
Gene expression of MGC5242 in YRI
lymphoblastoid cell lines:Simpson-Angus Scale:Breast cancer |
|
7 |
134849577 |
1 |
TMEM140 |
A |
C |
exonic |
synonymous SNV |
TMEM140:NM_018295:exon2:c.A384C:p.A128A |
RS2288237 |
Gene expression of TMEM140
(ENSG00000146859) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of TMEM140 (ENSG00000146859) in dendritic cells |
|
7 |
134871775 |
1 |
WDR91 |
C |
T |
exonic |
synonymous SNV |
WDR91:NM_014149:exon14:c.G2028A:p.S676S |
RS292557 |
Fasting blood
glucose:Triglycerides:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP) |
|
7 |
135047703 |
2 |
CNOT4 |
T |
C |
exonic |
synonymous SNV |
CNOT4:NM_001190847:exon11:c.A1863G:p.T621T,CNOT4:NM_013316:exon11:c.A1854G:p.T618T,CNOT4:NM_001190849:exon12:c.A2067G:p.T689T,CNOT4:NM_001190850:exon12:c.A2076G:p.T692T |
RS6969632 |
Salmonella-induced pyroptosis |
|
7 |
135279315 |
2 |
NUP205 |
A |
C |
exonic |
synonymous SNV |
NUP205:NM_001329434:exon13:c.A777C:p.A259A,NUP205:NM_015135:exon13:c.A1851C:p.A617A |
|
7 |
135304273 |
2 |
NUP205 |
G |
C |
exonic |
nonsynonymous SNV |
NUP205:NM_001329434:exon29:c.G2992C:p.E998Q,NUP205:NM_015135:exon29:c.G4066C:p.E1356Q |
RS7810767 |
Urinary albumin-to-creatinine
ratio:Salmonella-induced pyroptosis |
|
7 |
137600690 |
2 |
CREB3L2 |
C |
T |
exonic |
nonsynonymous SNV |
CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_001318246:exon3:c.G199A:p.V67I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I |
RS273957 |
Recurrent major depressive
disorder:HOMA-B:LDL cholesterol change with statins:Gene expression of
CREB3L2 [probe 212345_s_at] in prefrontal cortex:Serum creatinine:Partial
epilepsy:Total cholesterol:HDL cholesterol:Height:Osteoarthritis:Knee
osteoarthritis:Allergic rhinitis:Atopy:Transmission distortion |
|
7 |
138732457 |
1 |
ZC3HAV1 |
G |
A |
exonic |
synonymous SNV |
ZC3HAV1:NM_020119:exon13:c.C2592T:p.F864F |
RS3735008 |
Differential exon level expression
of ZC3HAV1 [probe 3075569] in peripheral blood mononuclear cells:Comorbid
depressive syndrome and alcohol dependence:Refractive error:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
7 |
138732497 |
1 |
ZC3HAV1 |
G |
A |
exonic |
nonsynonymous SNV |
ZC3HAV1:NM_020119:exon13:c.C2552T:p.T851I |
RS3735007 |
Parkinson's disease |
|
7 |
139026152 |
1 |
C7orf55-LUC7L2;FMC1 |
T |
G |
exonic |
nonsynonymous SNV |
C7orf55-LUC7L2:NM_001244584:exon1:c.T22G:p.S8A,FMC1:NM_197964:exon1:c.T22G:p.S8A |
RS10265 |
Fasting blood glucose:Total
cholesterol:LDL cholesterol |
|
7 |
139415775 |
1 |
HIPK2 |
G |
C |
exonic |
synonymous SNV |
HIPK2:NM_001113239:exon2:c.C1059G:p.V353V,HIPK2:NM_022740:exon2:c.C1059G:p.V353V |
RS7456421 |
Gene expression of LOC389562 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height |
|
7 |
139415943 |
1 |
HIPK2 |
G |
A |
exonic |
synonymous SNV |
HIPK2:NM_001113239:exon2:c.C891T:p.P297P,HIPK2:NM_022740:exon2:c.C891T:p.P297P |
RS4074826 |
Type 2 diabetes, Hypertension,
Coronary artery disease (CAD), combined case analysis, gender
differentiated:Gene expression of LOC389562 in CEU-CHB-JPT lymphoblastoid
cell lines:Biploar disorder (bipolar schizoaffective disorder) |
|
7 |
139801777 |
1 |
KDM7A |
T |
G |
exonic |
synonymous SNV |
KDM7A:NM_030647:exon12:c.A1612C:p.R538R |
RS1062277 |
Rheumatoid arthritis:HDL
cholesterol:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head
circumference |
|
7 |
140051091 |
1 |
SLC37A3 |
G |
A |
exonic |
synonymous SNV |
SLC37A3:NM_001287498:exon9:c.C864T:p.C288C,SLC37A3:NM_032295:exon9:c.C864T:p.C288C,SLC37A3:NM_207113:exon9:c.C864T:p.C288C |
RS12703775 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
7 |
140373326 |
1 |
ADCK2 |
A |
G |
exonic |
nonsynonymous SNV |
ADCK2:NM_052853:exon1:c.A196G:p.S66G |
|
7 |
140394587 |
1 |
ADCK2 |
C |
T |
exonic |
nonsynonymous SNV |
ADCK2:NM_052853:exon8:c.C1865T:p.P622L |
|
7 |
143088823 |
2 |
EPHA1 |
T |
C |
exonic |
synonymous SNV |
EPHA1:NM_005232:exon17:c.A2742G:p.P914P |
RS1804527 |
Hip bone mineral density (BMD):Gene
expression of ZYX///EPHA1 in blood:Sporadic Creutzfeldt-Jakob disease:P21709
protein abundance levels |
|
7 |
143093538 |
2 |
EPHA1 |
G |
A |
exonic |
synonymous SNV |
EPHA1:NM_005232:exon11:c.C1837T:p.L613L |
RS10952549 |
Asthma:PROP taste detection
threshold:Tourette's syndrome |
|
7 |
143097100 |
2 |
EPHA1 |
A |
G |
exonic |
nonsynonymous SNV |
EPHA1:NM_005232:exon4:c.T479C:p.V160A |
RS4725617 |
Urinary albumin-to-creatinine
ratio:Gene expression of ZYX///EPHA1 in blood:P21709 protein abundance levels |
|
7 |
143560609 |
2 |
TCAF1 |
C |
T |
exonic |
nonsynonymous SNV |
TCAF1:NM_001206938:exon3:c.G901A:p.V301I,TCAF1:NM_014719:exon3:c.G901A:p.V301I |
|
7 |
148851213 |
2 |
ZNF398 |
G |
A |
exonic |
synonymous SNV |
ZNF398:NM_170686:exon2:c.G201A:p.L67L |
RS917124 |
Serum creatinine:Gene expression of
ZNF425 in peripheral blood monocytes:Gene expression of YBX2 in peripheral
blood monocytes:Gene expression of ZNF786 in normal prepouch ileum |
|
7 |
148921732 |
1 |
ZNF282 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF282:NM_003575:exon8:c.G2009A:p.R670Q |
|
7 |
148963948 |
1 |
ZNF783 |
T |
C |
exonic |
synonymous SNV |
ZNF783:NM_001195220:exon3:c.T459C:p.S153S |
|
7 |
148963953 |
1 |
ZNF783 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF783:NM_001195220:exon3:c.T464A:p.L155Q |
|
7 |
149152770 |
2 |
ZNF777 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF777:NM_015694:exon2:c.T344C:p.V115A |
RS3735319 |
Hip bone mineral density
(BMD):Longstanding arthritis:HOMA-B:Fasting insulin:LDL cholesterol:Total
cholesterol:Lp-PLA2 activity:Total cholesterol:Triglycerides:LDL
cholesterol:Body mass index (BMI):Gene expression of ZNF767 in blood:Gene
expression of ZNF746 in blood:Adiponectin levels:Years of
education:Hypertension (early onset hypertension) |
|
7 |
149152906 |
2 |
ZNF777 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF777:NM_015694:exon2:c.C208T:p.R70W |
RS3735318 |
LDL cholesterol:Lp-PLA2
activity:Total cholesterol:Triglycerides:LDL cholesterol:Years of
education:Hypertension (early onset hypertension):Adiponectin levels |
|
7 |
150761314 |
1 |
SLC4A2 |
G |
A |
exonic |
nonsynonymous SNV |
SLC4A2:NM_001199693:exon2:c.G50A:p.G17E,SLC4A2:NM_001199694:exon2:c.G35A:p.G12E,SLC4A2:NM_001199692:exon3:c.G77A:p.G26E,SLC4A2:NM_003040:exon3:c.G77A:p.G26E |
RS2303929 |
HDL cholesterol:Premature ovarian
failure:Total cholesterol change with statins:Serum creatinine:Chronic kidney
disease:HDL cholesterol:Gene expression of AGAP3 in blood:Coronary artery
disease (CAD):Variant Creutzfeldt-Jakob disease:Years of education:College
completion:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
7 |
150763655 |
2 |
SLC4A2 |
T |
A |
exonic |
synonymous SNV |
SLC4A2:NM_001199693:exon5:c.T603A:p.T201T,SLC4A2:NM_001199694:exon5:c.T588A:p.T196T,SLC4A2:NM_001199692:exon6:c.T630A:p.T210T,SLC4A2:NM_003040:exon6:c.T630A:p.T210T |
|
7 |
150765065 |
2 |
SLC4A2 |
T |
C |
exonic |
synonymous SNV |
SLC4A2:NM_001199693:exon7:c.T1044C:p.T348T,SLC4A2:NM_001199694:exon7:c.T1029C:p.T343T,SLC4A2:NM_001199692:exon8:c.T1071C:p.T357T,SLC4A2:NM_003040:exon8:c.T1071C:p.T357T |
|
7 |
150768786 |
1 |
SLC4A2 |
G |
A |
exonic |
synonymous SNV |
SLC4A2:NM_001199693:exon14:c.G2175A:p.T725T,SLC4A2:NM_001199694:exon14:c.G2160A:p.T720T,SLC4A2:NM_001199692:exon15:c.G2202A:p.T734T,SLC4A2:NM_003040:exon15:c.G2202A:p.T734T |
RS2303937 |
HDL cholesterol:Height:Years of
education:College completion |
|
7 |
150779325 |
1 |
TMUB1 |
A |
G |
exonic |
nonsynonymous SNV |
TMUB1:NM_001136044:exon2:c.T326C:p.F109S,TMUB1:NM_031434:exon2:c.T326C:p.F109S |
|
7 |
150916228 |
1 |
ABCF2 |
G |
A |
exonic |
synonymous SNV |
ABCF2:NM_005692:exon8:c.C939T:p.Y313Y,ABCF2:NM_007189:exon8:c.C939T:p.Y313Y |
RS6949587 |
Alzheimer's disease:Plasma renin
activity:Height:Microalbuminuria:Gene expression of ABCF2 [probeset
209246_at] in sputum:Gene expression of ABCF2 in normal prepouch
ileum:College completion:Years of education |
|
7 |
150921950 |
1 |
ABCF2 |
A |
G |
exonic |
synonymous SNV |
ABCF2:NM_005692:exon3:c.T279C:p.L93L,ABCF2:NM_007189:exon3:c.T279C:p.L93L |
|
7 |
150929890 |
1 |
CHPF2 |
C |
T |
exonic |
synonymous SNV |
CHPF2:NM_001284295:exon1:c.C40T:p.L14L |
|
7 |
150931268 |
1 |
CHPF2 |
C |
G |
exonic |
synonymous SNV |
CHPF2:NM_019015:exon1:c.C171G:p.S57S,CHPF2:NM_001284295:exon2:c.C147G:p.S49S |
RS2608293 |
Height:Microalbuminuria:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:College
completion:Years of education |
|
7 |
150934975 |
1 |
CHPF2 |
C |
G |
exonic |
synonymous SNV |
CHPF2:NM_019015:exon4:c.C1527G:p.A509A,CHPF2:NM_001284295:exon5:c.C1503G:p.A501A |
RS2487154 |
Height:Microalbuminuria:Years of
education:Parkinson's disease:College completion |
|
7 |
151064064 |
1 |
NUB1 |
C |
T |
exonic |
synonymous SNV |
NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y |
RS386956 |
Triglycerides change with
statins:Lp-PLA2 mass:Gene expression of WDR86 in peripheral blood
monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years
of education:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion |
|
7 |
151216586 |
1 |
RHEB |
G |
T |
exonic |
synonymous SNV |
RHEB:NM_005614:exon1:c.C12A:p.S4S |
|
7 |
154760369 |
1 |
PAXIP1 |
A |
G |
exonic |
synonymous SNV |
PAXIP1:NM_007349:exon7:c.T1542C:p.L514L |
|
7 |
155503920 |
2 |
RBM33 |
A |
T |
exonic |
synonymous SNV |
RBM33:NM_053043:exon8:c.A972T:p.P324P |
|
7 |
156469133 |
2 |
RNF32 |
C |
G |
exonic |
nonsynonymous SNV |
RNF32:NM_001184996:exon9:c.C873G:p.H291Q,RNF32:NM_001184997:exon9:c.C873G:p.H291Q,RNF32:NM_030936:exon9:c.C873G:p.H291Q |
RS2302147 |
Gene expression of C7orf13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Myopia:Refractive error |
|
7 |
156742501 |
1 |
NOM1 |
C |
G |
exonic |
nonsynonymous SNV |
NOM1:NM_138400:exon1:c.C70G:p.R24G |
|
7 |
156743264 |
1 |
NOM1 |
C |
A |
exonic |
nonsynonymous SNV |
NOM1:NM_138400:exon1:c.C833A:p.A278E |
|
7 |
156974354 |
1 |
UBE3C |
G |
A |
exonic |
synonymous SNV |
UBE3C:NM_014671:exon7:c.G759A:p.P253P |
|
7 |
157000176 |
2 |
UBE3C |
T |
C |
exonic |
synonymous SNV |
UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y |
RS2301914 |
Gene expression of probe 1560738_at
in lymphoblastoid cell lines:Gene expression of probe 1560739_a_at in
lymphoblastoid cell lines:Body mass index (BMI):Atopic
dermatitis:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG |
|
7 |
157931119 |
1 |
PTPRN2 |
A |
G |
exonic |
synonymous SNV |
PTPRN2:NM_001308267:exon6:c.T885C:p.A295A,PTPRN2:NM_130842:exon6:c.T948C:p.A316A,PTPRN2:NM_001308268:exon7:c.T1068C:p.A356A,PTPRN2:NM_002847:exon7:c.T999C:p.A333A,PTPRN2:NM_130843:exon7:c.T999C:p.A333A |
RS1130500 |
Differential exon level expression
of PTPRN2 [probe 3082031] in brain cortex:Serum creatinine:Body mass index
(BMI):Parkinson's disease:Obesity with early age of onset (age
>2):Amyotrophic lateral sclerosis (ALS) age of onset |
|
7 |
157931144 |
1 |
PTPRN2 |
C |
T |
exonic |
nonsynonymous SNV |
PTPRN2:NM_001308267:exon6:c.G860A:p.S287N,PTPRN2:NM_130842:exon6:c.G923A:p.S308N,PTPRN2:NM_001308268:exon7:c.G1043A:p.S348N,PTPRN2:NM_002847:exon7:c.G974A:p.S325N,PTPRN2:NM_130843:exon7:c.G974A:p.S325N |
RS1130499 |
Serum creatinine:LDL
cholesterol:Prostate cancer:Parkinson's disease |
|
7 |
157959636 |
2 |
PTPRN2 |
G |
A |
exonic |
synonymous SNV |
PTPRN2:NM_001308267:exon5:c.C783T:p.S261S,PTPRN2:NM_130842:exon5:c.C846T:p.S282S,PTPRN2:NM_001308268:exon6:c.C966T:p.S322S,PTPRN2:NM_002847:exon6:c.C897T:p.S299S,PTPRN2:NM_130843:exon6:c.C897T:p.S299S |
|
7 |
157959911 |
2 |
PTPRN2 |
A |
G |
exonic |
nonsynonymous SNV |
PTPRN2:NM_001308267:exon5:c.T508C:p.S170P,PTPRN2:NM_130842:exon5:c.T571C:p.S191P,PTPRN2:NM_001308268:exon6:c.T691C:p.S231P,PTPRN2:NM_002847:exon6:c.T622C:p.S208P,PTPRN2:NM_130843:exon6:c.T622C:p.S208P |
RS1130495 |
Autism:Age-related macular
degeneration |
|
7 |
157985149 |
1 |
PTPRN2 |
C |
G |
exonic |
nonsynonymous SNV |
PTPRN2:NM_001308267:exon4:c.G305C:p.S102T,PTPRN2:NM_130842:exon4:c.G368C:p.S123T,PTPRN2:NM_001308268:exon5:c.G488C:p.S163T,PTPRN2:NM_002847:exon5:c.G419C:p.S140T,PTPRN2:NM_130843:exon5:c.G419C:p.S140T |
RS3800855 |
Total cholesterol change with
statins |
|
7 |
158672476 |
2 |
WDR60 |
C |
G |
exonic |
nonsynonymous SNV |
WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K |
RS2709859 |
Aortic valve calcium |
|
8 |
618728 |
2 |
ERICH1 |
A |
G |
exonic |
synonymous SNV |
ERICH1:NM_001303100:exon5:c.T1128C:p.L376L,ERICH1:NM_207332:exon5:c.T1128C:p.L376L |
|
8 |
1728557 |
1 |
CLN8 |
C |
G |
exonic |
nonsynonymous SNV |
CLN8:NM_018941:exon3:c.C685G:p.P229A |
|
8 |
2852951 |
2 |
|
8 |
6296550 |
2 |
MCPH1 |
G |
T |
exonic |
nonsynonymous SNV |
MCPH1:NM_001172574:exon6:c.G513T:p.R171S,MCPH1:NM_001322042:exon6:c.G513T:p.R171S,MCPH1:NM_001322043:exon6:c.G507T:p.R169S,MCPH1:NM_001322045:exon6:c.G411T:p.R137S,MCPH1:NM_024596:exon6:c.G513T:p.R171S |
RS2442513 |
Total cholesterol |
|
8 |
6302183 |
2 |
MCPH1 |
G |
C |
exonic |
nonsynonymous SNV |
MCPH1:NM_001172575:exon7:c.G796C:p.D266H,MCPH1:NM_001172574:exon8:c.G940C:p.D314H,MCPH1:NM_001322042:exon8:c.G940C:p.D314H,MCPH1:NM_001322043:exon8:c.G934C:p.D312H,MCPH1:NM_001322045:exon8:c.G838C:p.D280H,MCPH1:NM_024596:exon8:c.G940C:p.D314H |
RS930557 |
Fasting blood glucose:Obesity with
early age of onset (age >2) |
|
8 |
6302418 |
2 |
MCPH1 |
A |
G |
exonic |
nonsynonymous SNV |
MCPH1:NM_001172575:exon7:c.A1031G:p.D344G,MCPH1:NM_001172574:exon8:c.A1175G:p.D392G,MCPH1:NM_001322042:exon8:c.A1175G:p.D392G,MCPH1:NM_001322043:exon8:c.A1169G:p.D390G,MCPH1:NM_001322045:exon8:c.A1073G:p.D358G,MCPH1:NM_024596:exon8:c.A1175G:p.D392G |
|
8 |
6500544 |
2 |
MCPH1 |
C |
T |
exonic |
nonsynonymous SNV |
MCPH1:NM_024596:exon14:c.C2482T:p.P828S,MCPH1:NM_001322042:exon15:c.C2624T:p.P875L |
RS1057091 |
Stabilized warfarin
dose:Triglycerides:HDL cholesterol:Differential exon level expression of
MCPH1 [probe 3083855] in peripheral blood mononuclear cells:Abnormal
Involuntary Movement Scale:HOMA-B:Chronic kidney disease:Diastolic blood
pressure (DBP):Systolic blood pressure (SBP):Gene expression of MCPH1 [probe
ILMN_28177] in osteoblasts treated with dexamethasone:Systolic blood pressure
(SBP):Advanced age-related macular degeneration |
|
8 |
8176221 |
2 |
PRAG1 |
C |
T |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon7:c.G3664A:p.G1222S |
|
8 |
8176554 |
2 |
PRAG1 |
C |
T |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon6:c.G3331A:p.A1111T |
|
8 |
8234077 |
1 |
PRAG1 |
G |
C |
exonic |
synonymous SNV |
PRAG1:NM_001080826:exon3:c.C1842G:p.A614A |
RS4840952 |
Triglycerides:Total cholesterol:Body
mass index (BMI):Parkinson's disease |
|
8 |
8234192 |
1 |
PRAG1 |
G |
C |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon3:c.C1727G:p.S576C |
RS4840953 |
Total cholesterol:Body mass index
(BMI):Microalbuminuria:Parkinson's disease:College completion |
|
8 |
8234714 |
1 |
PRAG1 |
C |
T |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon3:c.G1205A:p.R402Q |
|
8 |
8747894 |
2 |
MFHAS1 |
A |
G |
exonic |
nonsynonymous SNV |
MFHAS1:NM_004225:exon1:c.T2675C:p.L892P |
RS429433 |
Hip bone mineral density
(BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL
cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity
with early age of onset (age >2):Birth weight |
|
8 |
8860620 |
2 |
ERI1 |
T |
C |
exonic |
nonsynonymous SNV |
ERI1:NM_153332:exon1:c.T47C:p.L16P |
RS2288672 |
Serum creatinine:Triglycerides:Waist
hip ratio |
|
8 |
8869126 |
1 |
ERI1 |
A |
G |
exonic |
nonsynonymous SNV |
ERI1:NM_153332:exon3:c.A362G:p.N121S |
|
8 |
9564437 |
1 |
TNKS |
A |
G |
exonic |
synonymous SNV |
TNKS:NM_003747:exon8:c.A1386G:p.T462T |
|
8 |
9577940 |
2 |
TNKS |
T |
C |
exonic |
synonymous SNV |
TNKS:NM_003747:exon12:c.T1806C:p.G602G |
|
8 |
9620691 |
1 |
TNKS |
T |
C |
exonic |
synonymous SNV |
TNKS:NM_003747:exon22:c.T3309C:p.N1103N |
|
8 |
10623240 |
1 |
PINX1 |
T |
C |
exonic |
nonsynonymous SNV |
PINX1:NM_017884:exon7:c.A658G:p.T220A |
RS17711777 |
Triglycerides:Simpson-Angus
Scale:HOMA-IR:HOMA-B:Fasting insulin:Total cholesterol |
|
8 |
11637276 |
1 |
NEIL2 |
G |
A |
exonic |
nonsynonymous SNV |
NEIL2:NM_001135747:exon2:c.G125A:p.R42Q,NEIL2:NM_001349441:exon2:c.G125A:p.R42Q,NEIL2:NM_001135746:exon3:c.G308A:p.R103Q,NEIL2:NM_001349439:exon3:c.G125A:p.R42Q,NEIL2:NM_001349440:exon3:c.G125A:p.R42Q,NEIL2:NM_145043:exon3:c.G308A:p.R103Q,NEIL2:NM_001349442:exon4:c.G308A:p.R103Q |
RS8191613 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Salmonella-induced pyroptosis |
|
8 |
11643553 |
1 |
NEIL2 |
G |
T |
exonic |
nonsynonymous SNV |
NEIL2:NM_001135747:exon4:c.G587T:p.R196L,NEIL2:NM_001349441:exon4:c.G587T:p.R196L,NEIL2:NM_001135746:exon5:c.G770T:p.R257L,NEIL2:NM_001135748:exon5:c.G422T:p.R141L,NEIL2:NM_001349439:exon5:c.G587T:p.R196L,NEIL2:NM_001349440:exon5:c.G587T:p.R196L,NEIL2:NM_145043:exon5:c.G770T:p.R257L,NEIL2:NM_001349442:exon6:c.G770T:p.R257L |
RS8191664 |
Total cholesterol:LDL cholesterol
change with statins |
|
8 |
11683653 |
2 |
FDFT1 |
T |
C |
exonic |
synonymous SNV |
FDFT1:NM_001287756:exon2:c.T130C:p.L44L,FDFT1:NM_001287750:exon4:c.T808C:p.L270L,FDFT1:NM_001287751:exon4:c.T376C:p.L126L,FDFT1:NM_001287744:exon5:c.T439C:p.L147L,FDFT1:NM_001287747:exon5:c.T439C:p.L147L,FDFT1:NM_001287748:exon5:c.T439C:p.L147L,FDFT1:NM_001287749:exon5:c.T439C:p.L147L,FDFT1:NM_004462:exon5:c.T631C:p.L211L,FDFT1:NM_001287743:exon6:c.T631C:p.L211L,FDFT1:NM_001287745:exon6:c.T439C:p.L147L,FDFT1:NM_001287742:exon7:c.T631C:p.L211L |
|
8 |
11689119 |
1 |
FDFT1 |
G |
C |
exonic |
synonymous SNV |
FDFT1:NM_001287756:exon4:c.G471C:p.L157L,FDFT1:NM_001287750:exon6:c.G1149C:p.L383L,FDFT1:NM_001287751:exon6:c.G717C:p.L239L,FDFT1:NM_001287744:exon7:c.G780C:p.L260L,FDFT1:NM_001287747:exon7:c.G780C:p.L260L,FDFT1:NM_001287748:exon7:c.G780C:p.L260L,FDFT1:NM_001287749:exon7:c.G780C:p.L260L,FDFT1:NM_004462:exon7:c.G972C:p.L324L,FDFT1:NM_001287743:exon8:c.G972C:p.L324L,FDFT1:NM_001287745:exon8:c.G780C:p.L260L,FDFT1:NM_001287742:exon9:c.G972C:p.L324L |
RS9205 |
Triglycerides:Triglycerides:Waist
hip ratio:Body mass index (BMI):Parkinson's disease:Refractive error:College
completion |
|
8 |
11710888 |
1 |
CTSB |
G |
C |
exonic |
nonsynonymous SNV |
CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V |
RS12338 |
Triglycerides:LDL
cholesterol:Parkinson's disease |
|
8 |
12957475 |
1 |
DLC1 |
C |
T |
exonic |
nonsynonymous SNV |
DLC1:NM_001348084:exon4:c.G838A:p.V280M,DLC1:NM_001164271:exon5:c.G838A:p.V280M,DLC1:NM_001316668:exon5:c.G1162A:p.V388M,DLC1:NM_001348083:exon5:c.G838A:p.V280M,DLC1:NM_006094:exon5:c.G1060A:p.V354M,DLC1:NM_001348082:exon8:c.G838A:p.V280M,DLC1:NM_001348081:exon9:c.G2371A:p.V791M,DLC1:NM_182643:exon9:c.G2371A:p.V791M |
RS532841 |
HDL cholesterol:Total
cholesterol:HDL cholesterol:LDL cholesterol:Gene expression of DLC1 in
liver:Comorbid depressive syndrome and alcohol dependence:Variant
Creutzfeldt-Jakob disease:Obesity with early age of onset (age
>2):Hypertension (early onset hypertension):Advanced age-related macular
degeneration (geographic atrophy) |
|
8 |
12958025 |
1 |
DLC1 |
C |
A |
exonic |
synonymous SNV |
DLC1:NM_001348084:exon4:c.G288T:p.A96A,DLC1:NM_001164271:exon5:c.G288T:p.A96A,DLC1:NM_001316668:exon5:c.G612T:p.A204A,DLC1:NM_001348083:exon5:c.G288T:p.A96A,DLC1:NM_006094:exon5:c.G510T:p.A170A,DLC1:NM_001348082:exon8:c.G288T:p.A96A,DLC1:NM_001348081:exon9:c.G1821T:p.A607A,DLC1:NM_182643:exon9:c.G1821T:p.A607A |
|
8 |
15838366 |
2 |
|
8 |
17503612 |
1 |
MTUS1 |
C |
G |
exonic |
synonymous SNV |
MTUS1:NM_001330470:exon9:c.G852C:p.S284S,MTUS1:NM_020749:exon10:c.G1134C:p.S378S,MTUS1:NM_001001931:exon12:c.G1377C:p.S459S,MTUS1:NM_001166393:exon12:c.G1071C:p.S357S,MTUS1:NM_001001925:exon14:c.G3474C:p.S1158S,MTUS1:NM_001001924:exon15:c.G3636C:p.S1212S |
RS61733704 |
Formate/succinate ratio |
|
8 |
17513414 |
1 |
MTUS1 |
G |
A |
exonic |
synonymous SNV |
MTUS1:NM_001330470:exon3:c.C282T:p.Y94Y,MTUS1:NM_020749:exon4:c.C564T:p.Y188Y,MTUS1:NM_001001931:exon6:c.C807T:p.Y269Y,MTUS1:NM_001166393:exon6:c.C501T:p.Y167Y,MTUS1:NM_001001925:exon8:c.C2904T:p.Y968Y,MTUS1:NM_001001924:exon9:c.C3066T:p.Y1022Y |
|
8 |
17541999 |
1 |
MTUS1 |
T |
C |
exonic |
synonymous SNV |
MTUS1:NM_020749:exon2:c.A174G:p.T58T,MTUS1:NM_001001931:exon4:c.A417G:p.T139T,MTUS1:NM_001166393:exon4:c.A111G:p.T37T,MTUS1:NM_001001925:exon6:c.A2514G:p.T838T,MTUS1:NM_001001924:exon7:c.A2676G:p.T892T |
RS2979792 |
Birth weight |
|
8 |
17611886 |
1 |
MTUS1 |
G |
A |
exonic |
synonymous SNV |
MTUS1:NM_001001924:exon2:c.C1431T:p.P477P,MTUS1:NM_001001925:exon2:c.C1431T:p.P477P |
RS2979788 |
Schizophrenia:HDL cholesterol:LDL
cholesterol:LDL cholesterol change with statins:Transmission
distortion:Mitral annular calcium |
|
8 |
17611959 |
1 |
MTUS1 |
T |
G |
exonic |
nonsynonymous SNV |
MTUS1:NM_001001924:exon2:c.A1358C:p.K453T,MTUS1:NM_001001925:exon2:c.A1358C:p.K453T |
RS17690844 |
HOMA-IR:LDL cholesterol change with
statins:Total cholesterol change with statins:Total cholesterol:LDL
cholesterol |
|
8 |
17612043 |
1 |
MTUS1 |
G |
A |
exonic |
nonsynonymous SNV |
MTUS1:NM_001001924:exon2:c.C1274T:p.T425M,MTUS1:NM_001001925:exon2:c.C1274T:p.T425M |
|
8 |
17612456 |
1 |
MTUS1 |
C |
T |
exonic |
synonymous SNV |
MTUS1:NM_001001924:exon2:c.G861A:p.K287K,MTUS1:NM_001001925:exon2:c.G861A:p.K287K |
RS11203910 |
LDL cholesterol:HOMA-B:LDL
cholesterol change with statins:Total cholesterol change with statins:Gene
expression of PGLYRP4 in peripheral blood monocytes:Microalbuminuria |
|
8 |
17612875 |
1 |
MTUS1 |
A |
G |
exonic |
nonsynonymous SNV |
MTUS1:NM_001001924:exon2:c.T442C:p.C148R,MTUS1:NM_001001925:exon2:c.T442C:p.C148R |
RS3739407 |
Neuroblastoma (brain cancer) |
|
8 |
17739538 |
2 |
FGL1 |
T |
C |
exonic |
nonsynonymous SNV |
FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V |
RS3739406 |
Height:Body mass index (BMI):Aortic
valve calcium |
|
8 |
17743020 |
2 |
FGL1 |
G |
A |
exonic |
nonsynonymous SNV |
FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I |
RS484373 |
Spine bone mineral density
(BMD):Triglycerides:Height:Gene expression of PCM1 in blood:Gene expression
of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID
ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls |
|
8 |
17796382 |
2 |
PCM1 |
A |
G |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S |
RS412750 |
Hip bone mineral density
(BMD):Triglycerides:Differential exon level expression of PCM1 [probe
3087841] in brain cortex:Triglycerides:Gene expression of FGL1 (probeID
ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's
disease cases and controls |
|
8 |
17796383 |
2 |
PCM1 |
C |
T |
exonic |
synonymous SNV |
PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N |
|
8 |
17814915 |
2 |
PCM1 |
A |
G |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V |
RS208753 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Differential exon level expression of
PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of PCM1 in
blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases
and controls |
|
8 |
17817657 |
1 |
PCM1 |
A |
C |
exonic |
synonymous SNV |
PCM1:NM_001315507:exon14:c.A2175C:p.G725G,PCM1:NM_001315508:exon14:c.A2178C:p.G726G,PCM1:NM_006197:exon14:c.A2175C:p.G725G |
|
8 |
17819572 |
2 |
PCM1 |
C |
T |
exonic |
synonymous SNV |
PCM1:NM_001315507:exon16:c.C2352T:p.P784P,PCM1:NM_001315508:exon16:c.C2355T:p.P785P,PCM1:NM_006197:exon16:c.C2352T:p.P784P |
RS3780103 |
Height:Formate/succinate
ratio:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Aortic valve
calcium |
|
8 |
17830005 |
1 |
PCM1 |
G |
A |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon23:c.G3752A:p.R1251H,PCM1:NM_001315508:exon23:c.G3755A:p.R1252H,PCM1:NM_006197:exon23:c.G3752A:p.R1251H |
RS17514547 |
HDL cholesterol change with
statins:Total cholesterol:HDL cholesterol |
|
8 |
17918934 |
2 |
ASAH1 |
A |
G |
exonic |
nonsynonymous SNV |
ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A |
RS10103355 |
Serum creatinine:Adiponectin levels |
|
8 |
17927327 |
1 |
ASAH1 |
T |
C |
exonic |
nonsynonymous SNV |
ASAH1:NM_004315:exon4:c.A325G:p.I109V,ASAH1:NM_177924:exon4:c.A277G:p.I93V |
RS1049874 |
Differential exon level expression
of ASAH1 [probe 3126118] in brain cortex:LDL cholesterol:Total
cholesterol:Partial epilepsy:Height:Gene expression of ASAH1 in
blood:Sporadic Creutzfeldt-Jakob disease:College completion |
|
8 |
18729817 |
2 |
PSD3 |
G |
A |
exonic |
nonsynonymous SNV |
PSD3:NM_015310:exon3:c.C557T:p.T186M |
RS7016219 |
Rheumatoid arthritis:Premature
ovarian failure:HDL cholesterol:HDL cholesterol:Bipolar disorder:Obesity with
early age of onset (age >2):Mitral annular calcium:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
8 |
18729818 |
2 |
PSD3 |
T |
G |
exonic |
nonsynonymous SNV |
PSD3:NM_015310:exon3:c.A556C:p.T186P |
RS7003060 |
Rheumatoid arthritis:Premature
ovarian failure:HDL cholesterol:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Obesity with early age of onset
(age >2):Mitral annular calcium |
|
8 |
19221700 |
2 |
SH2D4A |
G |
A |
exonic |
nonsynonymous SNV |
SH2D4A:NM_001174160:exon6:c.G689A:p.S230N,SH2D4A:NM_001174159:exon7:c.G824A:p.S275N,SH2D4A:NM_022071:exon7:c.G824A:p.S275N |
|
8 |
19316086 |
2 |
CSGALNACT1 |
G |
A |
exonic |
synonymous SNV |
CSGALNACT1:NM_001130518:exon5:c.C702T:p.H234H,CSGALNACT1:NM_018371:exon5:c.C702T:p.H234H |
RS12155539 |
Differential exon level expression
of ChGn [probe 3126531] in peripheral blood mononuclear cells:Differential
exon level expression of ChGn [probe 3126532] in peripheral blood mononuclear
cells:Differential exon level expression of ChGn [probe 3126531] in brain
cortex:Differential exon level expression of ChGn [probe 3126532] in brain
cortex:Cystatin C in serum:Height:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Parkinson's disease |
|
8 |
19362768 |
2 |
CSGALNACT1 |
C |
T |
exonic |
nonsynonymous SNV |
CSGALNACT1:NM_001130518:exon4:c.G578A:p.S193N,CSGALNACT1:NM_018371:exon4:c.G578A:p.S193N |
RS7017776 |
Premature ovarian failure:LDL
cholesterol change with statins:Total cholesterol change with statins:HDL
cholesterol:Variant Creutzfeldt-Jakob disease:Paternal transmission
distortion:Obesity with early age of onset (age >2) |
|
8 |
21956108 |
1 |
FAM160B2 |
A |
G |
exonic |
nonsynonymous SNV |
FAM160B2:NM_022749:exon7:c.A943G:p.T315A |
|
8 |
21965113 |
1 |
NUDT18 |
T |
C |
exonic |
nonsynonymous SNV |
NUDT18:NM_024815:exon5:c.A670G:p.M224V |
RS3739435 |
Gene expression of FLJ22494 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:2 hour glucose:HOMA-B:Advanced
age-related macular degeneration:Gene expression of NUDT18 (probeID
ILMN_1787885) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of NUDT18 (probeID ILMN_1787885) in whole blood:Gene
expression of NUDT18 (probeID ILMN_1787885) in cerebellum in Alzheimer's
disease cases and controls |
|
8 |
22105502 |
2 |
POLR3D |
T |
C |
exonic |
synonymous SNV |
POLR3D:NM_001722:exon4:c.T342C:p.A114A |
|
8 |
22262321 |
1 |
SLC39A14 |
T |
C |
exonic |
nonsynonymous SNV |
SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_001351659:exon2:c.T128C:p.L43P,SLC39A14:NM_001351660:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P,SLC39A14:NM_001351655:exon3:c.T98C:p.L33P,SLC39A14:NM_001351658:exon3:c.T128C:p.L43P,SLC39A14:NM_001351656:exon4:c.T98C:p.L33P,SLC39A14:NM_001351657:exon4:c.T128C:p.L43P |
RS896378 |
Rheumatoid arthritis |
|
8 |
22262379 |
1 |
SLC39A14 |
C |
T |
exonic |
synonymous SNV |
SLC39A14:NM_001128431:exon2:c.C156T:p.G52G,SLC39A14:NM_001135153:exon2:c.C156T:p.G52G,SLC39A14:NM_001135154:exon2:c.C156T:p.G52G,SLC39A14:NM_001351659:exon2:c.C186T:p.G62G,SLC39A14:NM_001351660:exon2:c.C156T:p.G52G,SLC39A14:NM_015359:exon2:c.C156T:p.G52G,SLC39A14:NM_001351655:exon3:c.C156T:p.G52G,SLC39A14:NM_001351658:exon3:c.C186T:p.G62G,SLC39A14:NM_001351656:exon4:c.C156T:p.G52G,SLC39A14:NM_001351657:exon4:c.C186T:p.G62G |
|
8 |
22262418 |
1 |
SLC39A14 |
A |
G |
exonic |
synonymous SNV |
SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_001351659:exon2:c.A225G:p.L75L,SLC39A14:NM_001351660:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L,SLC39A14:NM_001351655:exon3:c.A195G:p.L65L,SLC39A14:NM_001351658:exon3:c.A225G:p.L75L,SLC39A14:NM_001351656:exon4:c.A195G:p.L65L,SLC39A14:NM_001351657:exon4:c.A225G:p.L75L |
RS2293144 |
Rheumatoid arthritis |
|
8 |
22428658 |
2 |
SORBS3 |
T |
C |
exonic |
nonsynonymous SNV |
SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T |
RS2449331 |
Autism with low IQ:Obesity with
early age of onset (age >2) |
|
8 |
22451379 |
1 |
PDLIM2 |
C |
T |
exonic |
nonsynonymous SNV |
PDLIM2:NM_021630:exon10:c.C1765T:p.R589C |
|
8 |
22886020 |
1 |
TNFRSF10B |
A |
G |
exonic |
nonsynonymous SNV |
TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A |
|
8 |
22926313 |
1 |
TNFRSF10B |
G |
A |
exonic |
nonsynonymous SNV |
TNFRSF10B:NM_003842:exon1:c.C95T:p.P32L,TNFRSF10B:NM_147187:exon1:c.C95T:p.P32L |
|
8 |
23001988 |
1 |
TNFRSF10D |
A |
G |
exonic |
nonsynonymous SNV |
TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S |
RS1133782 |
Gene expression of
RHOBTB2///TNFRSF10B in blood |
|
8 |
23058220 |
2 |
TNFRSF10A |
T |
G |
exonic |
nonsynonymous SNV |
TNFRSF10A:NM_003844:exon5:c.A683C:p.E228A |
RS20576 |
Gene expression of TNFRSF10A in
normal prepouch ileum |
|
8 |
23146095 |
1 |
R3HCC1 |
A |
G |
exonic |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon2:c.A59G:p.H20R,R3HCC1:NM_001301650:exon2:c.A59G:p.H20R |
RS11546682 |
Birth weight |
|
8 |
23147564 |
1 |
R3HCC1;R3HCC1 |
G |
A |
exonic;splicing |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon4:c.G434A:p.R145K |
RS3808536 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (narrow definition) (males):LDL
cholesterol:Total cholesterol:Height:Gene expression of [probe 6940047
centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in
blood |
|
8 |
23148930 |
1 |
R3HCC1 |
A |
G |
exonic |
synonymous SNV |
R3HCC1:NM_001136108:exon5:c.A909G:p.T303T,R3HCC1:NM_001301650:exon6:c.A783G:p.T261T |
RS2272762 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (narrow definition) (males):LDL
cholesterol:Height |
|
8 |
23148940 |
1 |
R3HCC1 |
G |
A |
exonic |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon5:c.G919A:p.V307M,R3HCC1:NM_001301650:exon6:c.G793A:p.V265M |
RS2272761 |
Triglycerides:Major depressive
disorder (broad definition) (males):Major depressive disorder (narrow
definition) (males):LDL cholesterol:Height:Gene expression of [probe 6940047
centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood:Gene
expression of R3HCC1 in normal prepouch ileum |
|
8 |
23148978 |
1 |
R3HCC1 |
G |
T |
exonic |
synonymous SNV |
R3HCC1:NM_001136108:exon5:c.G957T:p.V319V,R3HCC1:NM_001301650:exon6:c.G831T:p.V277V |
|
8 |
23152334 |
2 |
R3HCC1 |
A |
G |
exonic |
synonymous SNV |
R3HCC1:NM_001136108:exon7:c.A1149G:p.T383T,R3HCC1:NM_001301650:exon8:c.A1023G:p.T341T |
|
8 |
23299176 |
1 |
ENTPD4 |
C |
T |
exonic |
nonsynonymous SNV |
ENTPD4:NM_001128930:exon8:c.G788A:p.R263H,ENTPD4:NM_004901:exon8:c.G788A:p.R263H |
|
8 |
23423758 |
2 |
SLC25A37 |
G |
A |
exonic |
synonymous SNV |
SLC25A37:NM_016612:exon2:c.G348A:p.P116P,SLC25A37:NM_001317813:exon3:c.G132A:p.P44P,SLC25A37:NM_001317814:exon3:c.G132A:p.P44P |
|
8 |
25182969 |
2 |
DOCK5 |
C |
T |
exonic |
synonymous SNV |
DOCK5:NM_024940:exon18:c.C1809T:p.S603S |
RS2666172 |
Childhood acute lymphoblastic
leukemia:LDL cholesterol change with statins:Triglycerides change with
statins:Type 2 diabetes:Gene expression of GNRH1 (ENSG00000147437) in
dendritic cells treated with Mycobacterium tuberculosis:Maternal transmission
distortion:Refractive error |
|
8 |
25203022 |
2 |
DOCK5 |
A |
G |
exonic |
synonymous SNV |
DOCK5:NM_024940:exon26:c.A2649G:p.T883T |
|
8 |
25230168 |
2 |
DOCK5 |
C |
T |
exonic |
synonymous SNV |
DOCK5:NM_024940:exon35:c.C3618T:p.D1206D |
RS2271108 |
HDL cholesterol:Suicide attempts in
bipolar disorder (substance abuse/dependence):Birth weight:Years of
education:Aortic valve calcium:College completion |
|
8 |
25234858 |
2 |
DOCK5 |
A |
G |
exonic |
nonsynonymous SNV |
DOCK5:NM_024940:exon38:c.A3854G:p.K1285R |
|
8 |
25323777 |
2 |
CDCA2 |
T |
C |
exonic |
synonymous SNV |
CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N |
|
8 |
26481771 |
2 |
DPYSL2 |
T |
C |
exonic |
synonymous SNV |
DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S |
|
8 |
26510792 |
1 |
DPYSL2 |
T |
C |
exonic |
synonymous SNV |
DPYSL2:NM_001197293:exon13:c.T1821C:p.P607P,DPYSL2:NM_001244604:exon13:c.T1398C:p.P466P,DPYSL2:NM_001386:exon13:c.T1506C:p.P502P |
RS708621 |
LDL cholesterol:Total
cholesterol:Triglycerides:Total cholesterol:Waist hip ratio:Sporadic
Creutzfeldt-Jakob disease |
|
8 |
27315876 |
1 |
PTK2B |
A |
G |
exonic |
synonymous SNV |
PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A |
RS1879182 |
Diastolic blood pressure (DBP):Gene
expression of PTK2B in normal prepouch ileum:College completion |
|
8 |
27667969 |
2 |
PBK |
C |
G |
exonic |
synonymous SNV |
PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A |
RS2294092 |
2 hour glucose:Triglycerides change
with statins |
|
8 |
29927300 |
2 |
SARAF |
C |
G |
exonic |
synonymous SNV |
SARAF:NM_001284239:exon2:c.G42C:p.A14A,SARAF:NM_016127:exon3:c.G558C:p.A186A |
|
8 |
29927321 |
2 |
SARAF |
A |
G |
exonic |
synonymous SNV |
SARAF:NM_001284239:exon2:c.T21C:p.I7I,SARAF:NM_016127:exon3:c.T537C:p.I179I |
RS6468094 |
Salmonella-induced pyroptosis |
|
8 |
29989564 |
2 |
MBOAT4 |
A |
G |
exonic |
synonymous SNV |
MBOAT4:NM_001100916:exon3:c.T1203C:p.S401S |
RS7844812 |
LDL cholesterol:Systolic blood
pressure (SBP):Advanced age-related macular degeneration:Gene expression of
LEPROTL1 (ENSG00000104660) in dendritic cells treated with Mycobacterium
tuberculosis |
|
8 |
30608976 |
2 |
UBXN8 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
8 |
30973957 |
2 |
WRN |
G |
T |
exonic |
synonymous SNV |
WRN:NM_000553:exon20:c.G2361T:p.L787L |
RS1800392 |
Longstanding
arthritis:Schizophrenia:Fasting insulin:TrailsA:Gene expression of WRN in
peripheral blood monocytes:Gene expression of WRN in blood:PROP taste
detection threshold:Sporadic Creutzfeldt-Jakob disease:Years of
education:Longevity (exceptional longevity):College completion |
|
8 |
30999280 |
2 |
WRN |
G |
T |
exonic |
nonsynonymous SNV |
WRN:NM_000553:exon26:c.G3222T:p.L1074F |
RS1801195 |
Sporadic Creutzfeldt-Jakob disease |
|
8 |
33246538 |
1 |
FUT10 |
A |
G |
exonic |
synonymous SNV |
FUT10:NM_032664:exon4:c.T1155C:p.D385D |
RS16880849 |
Rheumatoid
arthritis:Triglycerides:Gene expression of FUT10 in normal prepouch
ileum:Infant head circumference |
|
8 |
33246591 |
1 |
FUT10 |
G |
C |
exonic |
nonsynonymous SNV |
FUT10:NM_032664:exon4:c.C1102G:p.L368V |
RS17855838 |
Prostate cancer |
|
8 |
33246685 |
1 |
FUT10 |
G |
A |
exonic |
synonymous SNV |
FUT10:NM_032664:exon4:c.C1008T:p.Y336Y |
RS16880852 |
Type 1 diabetes, Rheumatoid
arthritis, combined case analysis:Rheumatoid arthritis:Gene expression of
TCF15 in peripheral blood monocytes:Triglycerides:Gene expression of FUT10 in
normal prepouch ileum:Infant head circumference |
|
8 |
33356074 |
1 |
MAK16 |
A |
G |
exonic |
nonsynonymous SNV |
MAK16:NM_032509:exon10:c.A830G:p.Q277R |
RS6468171 |
Gallstone disease:Gene expression
of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10
[probe 235472_at] in lymphoblastoid cell lines:Differential exon level
expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential
exon level expression of FUT10 [probe 3130770] in peripheral blood
mononuclear cells:Differential exon level expression of FUT10 [probe 3130803]
in peripheral blood mononuclear cells:Differential exon level expression of
FUT10 [probe 3130777] in peripheral blood mononuclear cells:Gene expression
of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Differential
exon level expression of FUT10 [probe 3130781] in peripheral blood
mononuclear cells:Differential exon level expression of FUT10 [probe 3130806]
in brain cortex:Differential exon level expression of FUT10 [probe 3130804]
in peripheral blood mononuclear cells:Gene expression of RBM13 in peripheral
blood monocytes:Triglycerides:Gene expression of FUT10 in CD4+
lymphocytes:Gene expression of MAK16 in liver:Gene expression of FUT10 in
blood:Comorbid depressive syndrome and alcohol dependence:Advanced
age-related macular degeneration:Adiponectin levels:Infant head
circumference:Years of education:Gene expression of FUT10 in normal prepouch
ileum |
|
8 |
33369944 |
1 |
TTI2 |
T |
C |
exonic |
nonsynonymous SNV |
TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G,TTI2:NM_001330505:exon2:c.A188G:p.E63G |
RS2304748 |
Gene expression of FUT10 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe
235472_at] in lymphoblastoid cell lines:Differential exon level expression of
FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon
level expression of FUT10 [probe 3130777] in peripheral blood mononuclear
cells:Differential exon level expression of FUT10 [probe 3130806] in brain
cortex:Differential exon level expression of FUT10 [probe 3130770] in
peripheral blood mononuclear cells:Differential exon level expression of
FUT10 [probe 3130804] in peripheral blood mononuclear cells:Differential exon
level expression of FUT10 [probe 3130803] in peripheral blood mononuclear
cells:Differential exon level expression of FUT10 [probe 3130781] in
peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757]
in peripheral blood mononuclear cells:Barnes Akathisia Rating
Scale:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Asthma:Gene
expression of FUT10 [probe ILMN_18464] in osteoblasts treated with PGE2:Gene
expression of FUT10 [probe ILMN_18464] in untreated osteoblasts:Gene
expression of FUT10 in blood:Comorbid depressive syndrome and alcohol
dependence:Gene expression of FUT10 (ENSG00000172728) in dendritic cells
treated with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of
FUT10 in normal prepouch ileum |
|
8 |
33369994 |
1 |
TTI2 |
A |
G |
exonic |
synonymous SNV |
TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N,TTI2:NM_001330505:exon2:c.T138C:p.N46N |
RS3098657 |
Gene expression of FUT10 [probe
235472_at] in lymphoblastoid cell lines:Triglycerides:Comorbid depressive
syndrome and alcohol dependence:Adiponectin levels |
|
8 |
37985897 |
2 |
ASH2L |
A |
G |
exonic |
synonymous SNV |
ASH2L:NM_001282272:exon10:c.A837G:p.K279K,ASH2L:NM_001105214:exon11:c.A972G:p.K324K,ASH2L:NM_001261832:exon11:c.A972G:p.K324K,ASH2L:NM_004674:exon11:c.A1254G:p.K418K |
RS2843740 |
Gene expression of STAR in CHB
lymphoblastoid cell lines:Chronic kidney disease |
|
8 |
38677553 |
1 |
TACC1 |
A |
G |
exonic |
nonsynonymous SNV |
TACC1:NM_001146216:exon3:c.A206G:p.Y69C,TACC1:NM_001330521:exon3:c.A206G:p.Y69C,TACC1:NM_006283:exon3:c.A791G:p.Y264C |
|
8 |
40011079 |
2 |
C8orf4 |
G |
A |
exonic |
nonsynonymous SNV |
C8orf4:NM_020130:exon1:c.G28A:p.V10I |
|
8 |
43054553 |
2 |
HGSNAT |
T |
C |
exonic |
synonymous SNV |
HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y |
|
8 |
48707054 |
1 |
PRKDC |
G |
A |
exonic |
unknown |
UNKNOWN |
|
8 |
48794626 |
1 |
PRKDC |
C |
A |
exonic |
unknown |
UNKNOWN |
|
8 |
48805788 |
1 |
PRKDC |
C |
T |
exonic |
unknown |
UNKNOWN |
|
8 |
48885436 |
2 |
MCM4 |
T |
A |
exonic |
nonsynonymous SNV |
MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M |
RS762679 |
Serum creatinine:Waist hip
ratio:Infant head circumference:Obesity with early age of onset (age >2) |
|
8 |
52733050 |
1 |
PCMTD1 |
T |
A |
exonic |
nonsynonymous SNV |
PCMTD1:NM_001286782:exon4:c.A707T:p.N236I,PCMTD1:NM_001286783:exon6:c.A407T:p.N136I,PCMTD1:NM_052937:exon6:c.A935T:p.N312I |
RS12335014 |
Lp-PLA2 mass:Total
cholesterol:College completion:Years of education |
|
8 |
52746153 |
1 |
PCMTD1 |
C |
T |
exonic |
synonymous SNV |
PCMTD1:NM_001286782:exon2:c.G279A:p.V93V,PCMTD1:NM_052937:exon4:c.G507A:p.V169V |
RS9298462 |
Total cholesterol:LDL
cholesterol:Microalbuminuria:Birth weight:Years of education:College
completion:Gene expression of PCMTD1 in normal prepouch ileum |
|
8 |
53580701 |
1 |
RB1CC1 |
A |
G |
exonic |
synonymous SNV |
RB1CC1:NM_001083617:exon8:c.T1053C:p.I351I,RB1CC1:NM_014781:exon8:c.T1053C:p.I351I |
|
8 |
53586706 |
2 |
RB1CC1 |
A |
G |
exonic |
nonsynonymous SNV |
RB1CC1:NM_001083617:exon7:c.T701C:p.M234T,RB1CC1:NM_014781:exon7:c.T701C:p.M234T |
RS17337252 |
Prostate cancer |
|
8 |
54469894 |
2 |
|
8 |
56686224 |
2 |
TGS1 |
T |
C |
exonic |
nonsynonymous SNV |
TGS1:NM_024831:exon1:c.T47C:p.I16T |
RS1818 |
Abnormal Involuntary Movement
Scale:Rheumatoid arthritis:Gene expression of LYN in blood:Gene expression of
TGS1 in blood:Aortic valve calcium |
|
8 |
59512334 |
1 |
NSMAF |
G |
A |
exonic |
synonymous SNV |
NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D |
RS2680903 |
Irritible bowel syndrome:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Gene expression of TOX [probe
204529_s_at] in prefrontal cortex:Gene expression of SDCBP///NSMAF in
blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder |
|
8 |
66525548 |
2 |
ARMC1 |
T |
C |
exonic |
synonymous SNV |
ARMC1:NM_018120:exon4:c.A396G:p.Q132Q |
|
8 |
67341938 |
1 |
RRS1 |
G |
T |
exonic |
nonsynonymous SNV |
RRS1:NM_015169:exon1:c.G572T:p.R191L |
|
8 |
74527996 |
2 |
STAU2 |
C |
T |
exonic |
nonsynonymous SNV |
STAU2:NM_001164383:exon3:c.G76A:p.V26M,STAU2:NM_001164385:exon5:c.G478A:p.V160M,STAU2:NM_001164382:exon6:c.G280A:p.V94M,STAU2:NM_001164384:exon6:c.G496A:p.V166M,STAU2:NM_001164381:exon7:c.G496A:p.V166M,STAU2:NM_014393:exon7:c.G496A:p.V166M,STAU2:NM_001164380:exon8:c.G592A:p.V198M |
RS949493 |
Rheumatoid arthritis:Differential
exon level expression of STAU2 [probe 3140703] in brain cortex:Triglycerides
change with statins:Chronic kidney disease:Lp-PLA2 mass:Asthma:Urinary
albumin-to-creatinine ratio:PROP taste detection threshold |
|
8 |
74722831 |
1 |
UBE2W |
G |
C |
exonic |
nonsynonymous SNV |
UBE2W:NM_001271015:exon4:c.C331G:p.P111A,UBE2W:NM_018299:exon4:c.C331G:p.P111A,UBE2W:NM_001001481:exon5:c.C364G:p.P122A |
|
8 |
74888616 |
1 |
TMEM70 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P |
|
8 |
74893821 |
1 |
TMEM70 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM70:NM_017866:exon3:c.A748G:p.T250A |
RS1053079 |
Irritible bowel
syndrome:Differential exon level expression of TMEM70 [probe 3103515] in
peripheral blood mononuclear cells:2 hour glucose:Serum creatinine:Partial
epilepsy:Gene expression of TMEM70 [transcript NM_001040613, probe
A_23_P253963] in liver:Gene expression of LY96 in blood:Comorbid depressive
syndrome and alcohol dependence:Gene expression of TMEM70 in normal prepouch
ileum:Paternal transmission distortion |
|
8 |
74893850 |
1 |
TMEM70 |
C |
G |
exonic |
nonsynonymous SNV |
TMEM70:NM_017866:exon3:c.C777G:p.D259E |
RS1053077 |
2 hour glucose:Serum creatinine |
|
8 |
76468282 |
2 |
HNF4G |
G |
A |
exonic |
nonsynonymous SNV |
HNF4G:NM_004133:exon6:c.G681A:p.M227I,HNF4G:NM_001330561:exon8:c.G570A:p.M190I |
RS1805098 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol:Body mass index (BMI):Aortic valve
calcium:Serum urate |
|
8 |
77895865 |
2 |
PEX2 |
A |
G |
exonic |
nonsynonymous SNV |
PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172086:exon5:c.T550C:p.C184R |
RS10087163 |
Fasting blood glucose:Comorbid
depressive syndrome and alcohol dependence |
|
8 |
80976814 |
1 |
TPD52 |
C |
A |
exonic |
nonsynonymous SNV |
TPD52:NM_001025252:exon2:c.G154T:p.D52Y,TPD52:NM_001025253:exon2:c.G34T:p.D12Y,TPD52:NM_001287140:exon2:c.G154T:p.D52Y,TPD52:NM_001287142:exon2:c.G154T:p.D52Y,TPD52:NM_001287143:exon2:c.G154T:p.D52Y,TPD52:NM_001287144:exon2:c.G34T:p.D12Y,TPD52:NM_005079:exon2:c.G34T:p.D12Y |
|
8 |
87497176 |
1 |
RMDN1 |
G |
A |
exonic |
synonymous SNV |
RMDN1:NM_001317807:exon5:c.C378T:p.C126C,RMDN1:NM_016033:exon5:c.C510T:p.C170C |
RS11539113 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Gene expression of FAM82B in normal
prepouch ileum:Adiponectin levels |
|
8 |
87519315 |
1 |
RMDN1 |
T |
G |
exonic |
nonsynonymous SNV |
RMDN1:NM_001286707:exon2:c.A156C:p.K52N,RMDN1:NM_001286719:exon2:c.A156C:p.K52N,RMDN1:NM_001317807:exon2:c.A24C:p.K8N,RMDN1:NM_016033:exon2:c.A156C:p.K52N |
RS6980476 |
Total cholesterol:LDL
cholesterol:Gene expression of WWP1 in blood:Gene expression of CPNE3 in
blood:Resistance to kuru in aged women despite likely exposure:Adiponectin
levels |
|
8 |
90801670 |
1 |
RIPK2 |
T |
C |
exonic |
synonymous SNV |
RIPK2:NM_003821:exon10:c.T1245C:p.S415S |
|
8 |
92083424 |
2 |
OTUD6B |
A |
G |
exonic |
synonymous SNV |
OTUD6B:NM_016023:exon2:c.A231G:p.Q77Q |
|
8 |
94746698 |
1 |
RBM12B |
G |
T |
exonic |
synonymous SNV |
RBM12B:NM_203390:exon3:c.C1941A:p.P647P |
|
8 |
95419698 |
1 |
RAD54B |
A |
G |
exonic |
synonymous SNV |
RAD54B:NM_001205263:exon3:c.T198C:p.N66N,RAD54B:NM_012415:exon5:c.T750C:p.N250N |
RS2291439 |
LDL cholesterol:Total
cholesterol:Obesity with early age of onset (age >2):Parkinson's disease |
|
8 |
95523713 |
1 |
VIRMA |
G |
A |
exonic |
synonymous SNV |
VIRMA:NM_015496:exon13:c.C3090T:p.D1030D,VIRMA:NM_183009:exon13:c.C3090T:p.D1030D |
|
8 |
95541371 |
1 |
VIRMA |
T |
A |
exonic |
synonymous SNV |
VIRMA:NM_015496:exon7:c.A807T:p.R269R,VIRMA:NM_183009:exon7:c.A807T:p.R269R |
RS957446 |
Obesity with early age of onset (age
>2):Refractive error |
|
8 |
95877787 |
2 |
INTS8 |
T |
C |
exonic |
synonymous SNV |
INTS8:NM_017864:exon17:c.T2130C:p.S710S |
RS713113 |
LDL cholesterol:Fasting blood
glucose:Gene expression of TP53INP1 in peripheral blood monocytes:Diastolic
blood pressure (DBP):Advanced age-related macular degeneration (geographic
atrophy):Refractive error |
|
8 |
95888307 |
2 |
INTS8 |
C |
T |
exonic |
synonymous SNV |
INTS8:NM_017864:exon24:c.C2694T:p.A898A |
RS1129152 |
Fasting blood glucose:Gene
expression of INTS8 [transcript NM_017864, probe A_23_P43079] in liver:Gene
expression of TP53INP1///C8orf38 in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Gene expression of CCNE2 [probeset
205034_at] in sputum:Variant Creutzfeldt-Jakob disease:Gene expression of
TP53INP1 (ENSG00000164938) in dendritic cells:Primary rhegmatogenous retinal
detachment |
|
8 |
97847358 |
2 |
CPQ |
G |
T |
exonic |
synonymous SNV |
CPQ:NM_016134:exon3:c.G591T:p.V197V |
RS1864384 |
HDL cholesterol:Bipolar disorder |
|
8 |
99115082 |
1 |
RIDA |
C |
T |
exonic |
synonymous SNV |
RIDA:NM_005836:exon6:c.G402A:p.T134T |
|
8 |
99170404 |
1 |
POP1 |
C |
G |
exonic |
nonsynonymous SNV |
POP1:NM_001145860:exon16:c.C2980G:p.L994V,POP1:NM_001145861:exon16:c.C2980G:p.L994V,POP1:NM_015029:exon16:c.C2980G:p.L994V |
|
8 |
101252680 |
2 |
SPAG1 |
T |
C |
exonic |
nonsynonymous SNV |
SPAG1:NM_003114:exon18:c.T2330C:p.M777T,SPAG1:NM_172218:exon18:c.T2330C:p.M777T |
RS6511 |
Fasting blood glucose:Lp-PLA2
mass:Triglycerides:Height:Infant head circumference |
|
8 |
103306033 |
1 |
UBR5 |
T |
C |
exonic |
synonymous SNV |
UBR5:NM_001282873:exon34:c.A4389G:p.V1463V,UBR5:NM_015902:exon34:c.A4389G:p.V1463V |
RS16869352 |
Gene expression of RRM2B (probeID
ILMN_2170595) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RRM2B (probeID ILMN_2170595) in temporal cortex in Alzheimer's
disease cases and controls |
|
8 |
103663912 |
1 |
KLF10 |
T |
G |
exonic |
synonymous SNV |
KLF10:NM_001032282:exon3:c.A615C:p.T205T,KLF10:NM_005655:exon3:c.A648C:p.T216T |
|
8 |
104312341 |
2 |
FZD6 |
A |
G |
exonic |
synonymous SNV |
FZD6:NM_001164615:exon2:c.A6G:p.E2E,FZD6:NM_003506:exon2:c.A6G:p.E2E |
RS3736047 |
Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal
pons:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
8 |
104337096 |
2 |
FZD6 |
A |
G |
exonic |
synonymous SNV |
FZD6:NM_001164615:exon4:c.A762G:p.L254L,FZD6:NM_003506:exon4:c.A762G:p.L254L,FZD6:NM_001164616:exon5:c.A666G:p.L222L |
RS3808554 |
Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Total
cholesterol |
|
8 |
104337367 |
2 |
FZD6 |
A |
C |
exonic |
nonsynonymous SNV |
FZD6:NM_001317796:exon3:c.A118C:p.M40L,FZD6:NM_001164615:exon4:c.A1033C:p.M345L,FZD6:NM_003506:exon4:c.A1033C:p.M345L,FZD6:NM_001164616:exon5:c.A937C:p.M313L |
RS3808553 |
Hip bone mineral density
(BMD):Stabilized warfarin dose:Schizophrenia:Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal
pons:Resistance to kuru in aged women despite likely exposure:Hypertension
(early onset hypertension):Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
8 |
104343686 |
2 |
FZD6 |
G |
A |
exonic |
synonymous SNV |
FZD6:NM_001317796:exon6:c.G1155A:p.P385P,FZD6:NM_001164615:exon7:c.G2070A:p.P690P,FZD6:NM_003506:exon7:c.G2070A:p.P690P,FZD6:NM_001164616:exon8:c.G1974A:p.P658P |
RS1053917 |
Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons |
|
8 |
104394744 |
2 |
CTHRC1 |
T |
C |
exonic |
synonymous SNV |
CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G |
RS3098233 |
LDL cholesterol:Gene expression of
WDSOF1 [probe 3110341] in peripheral blood mononuclear cells:Premature
ovarian failure |
|
8 |
107754473 |
1 |
OXR1 |
G |
A |
exonic |
synonymous SNV |
OXR1:NM_001198535:exon4:c.G369A:p.E123E,OXR1:NM_001198534:exon5:c.G450A:p.E150E,OXR1:NM_181354:exon12:c.G2238A:p.E746E,OXR1:NM_001198532:exon14:c.G2343A:p.E781E,OXR1:NM_018002:exon14:c.G2259A:p.E753E,OXR1:NM_001198533:exon15:c.G2340A:p.E780E |
RS1681904 |
Bipolar disorder |
|
8 |
117864217 |
1 |
RAD21 |
A |
G |
exonic |
synonymous SNV |
RAD21:NM_006265:exon11:c.T1440C:p.A480A |
|
8 |
118819578 |
2 |
EXT1 |
C |
T |
exonic |
synonymous SNV |
EXT1:NM_000127:exon9:c.G1761A:p.E587E |
RS7837891 |
HOMA-B:Triglycerides change with
statins:Obesity with early age of onset (age >2):Salmonella-induced
pyroptosis |
|
8 |
120803637 |
1 |
TAF2 |
C |
G |
exonic |
nonsynonymous SNV |
TAF2:NM_003184:exon11:c.G1340C:p.S447T |
RS9297605 |
Abnormal Involuntary Movement
Scale:Obesity with early age of onset (age >2) |
|
8 |
121530190 |
2 |
MTBP |
A |
G |
exonic |
synonymous SNV |
MTBP:NM_022045:exon19:c.A2346G:p.E782E |
RS13258848 |
HOMA-IR:Cystatin C in
serum:Comorbid depressive syndrome and alcohol dependence:Gene expression of
MTBP (probeID ILMN_1660222) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of MTBP (probeID ILMN_1660222) in temporal cortex in
Alzheimer's disease cases and controls:Years of education |
|
8 |
123963996 |
1 |
ZHX2 |
C |
T |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.C246T:p.Y82Y |
|
8 |
123964038 |
1 |
ZHX2 |
T |
C |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.T288C:p.H96H |
RS4871332 |
LDL cholesterol |
|
8 |
123964767 |
1 |
ZHX2 |
G |
A |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.G1017A:p.Q339Q |
RS16897795 |
LDL cholesterol |
|
8 |
123966114 |
1 |
ZHX2 |
G |
A |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.G2364A:p.S788S |
RS12548759 |
LDL cholesterol |
|
8 |
123966159 |
2 |
ZHX2 |
G |
C |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.G2409C:p.A803A |
RS3802265 |
Cystatin C in serum:Triglycerides |
|
8 |
124357253 |
1 |
ATAD2 |
G |
A |
exonic |
synonymous SNV |
ATAD2:NM_014109:exon19:c.C2589T:p.H863H |
RS16898247 |
Chronic kidney disease:Urinary
albumin-to-creatinine ratio:Birth weight |
|
8 |
124360487 |
1 |
ATAD2 |
G |
A |
exonic |
synonymous SNV |
ATAD2:NM_014109:exon15:c.C1833T:p.H611H |
|
8 |
124448736 |
1 |
WDYHV1 |
A |
G |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon4:c.A98G:p.N33S,WDYHV1:NM_018024:exon4:c.A278G:p.N93S,WDYHV1:NM_001283027:exon5:c.A74G:p.N25S |
RS7014678 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe
219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of NP_060494.1 in blood cells in Celiac
disease:Differential exon level expression of C8orf32 [probe 3114248] in
peripheral blood mononuclear cells:Gene expression of C8orf32 [probe
ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of
C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+
lymphocytes:Height:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts
treated with BMP2:Rheumatoid arthritis:Gene expression of WDYHV1 in
blood:Adiponectin levels |
|
8 |
124448804 |
1 |
WDYHV1 |
T |
A |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon4:c.T166A:p.F56I,WDYHV1:NM_018024:exon4:c.T346A:p.F116I,WDYHV1:NM_001283027:exon5:c.T142A:p.F48I |
RS6470147 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides change with
statins:Gene expression of C8orf32 in Temporal cortex:LDL
cholesterol:Height:Adiponectin levels |
|
8 |
124818447 |
1 |
FAM91A1 |
C |
G |
exonic |
synonymous SNV |
FAM91A1:NM_001317917:exon20:c.C1284G:p.L428L,FAM91A1:NM_001317918:exon20:c.C2010G:p.L670L,FAM91A1:NM_144963:exon20:c.C2010G:p.L670L |
|
8 |
124824826 |
2 |
FAM91A1 |
G |
A |
exonic |
nonsynonymous SNV |
FAM91A1:NM_001317917:exon24:c.G1673A:p.C558Y,FAM91A1:NM_144963:exon24:c.G2399A:p.C800Y |
|
8 |
131140285 |
1 |
ASAP1 |
G |
A |
exonic |
synonymous SNV |
ASAP1:NM_018482:exon16:c.C1269T:p.F423F,ASAP1:NM_001247996:exon17:c.C1248T:p.F416F |
|
8 |
132982824 |
2 |
EFR3A |
A |
G |
exonic |
nonsynonymous SNV |
EFR3A:NM_001323553:exon10:c.A985G:p.N329D,EFR3A:NM_001323554:exon10:c.A985G:p.N329D,EFR3A:NM_001323555:exon10:c.A985G:p.N329D,EFR3A:NM_001323556:exon10:c.A985G:p.N329D,EFR3A:NM_001323557:exon10:c.A985G:p.N329D,EFR3A:NM_001323558:exon10:c.A1093G:p.N365D,EFR3A:NM_015137:exon10:c.A1093G:p.N365D |
RS1051221 |
Tardive dyskinesia:LDL cholesterol
change with statins:Total cholesterol:Diastolic blood pressure (DBP):Gene
expression of EFR3A (ENSG00000132294) in dendritic cells:Mitral annular
calcium:Adiponectin levels |
|
8 |
133844508 |
1 |
PHF20L1 |
C |
T |
exonic |
synonymous SNV |
PHF20L1:NM_001277196:exon14:c.C1695T:p.L565L,PHF20L1:NM_016018:exon15:c.C1773T:p.L591L |
RS16904746 |
Chronic kidney disease:Serum
creatinine:Gene expression of LRRC6 in peripheral blood monocytes:Height:Gene
expression of TG in normal prepouch ileum |
|
8 |
134488007 |
2 |
ST3GAL1 |
G |
A |
exonic |
synonymous SNV |
ST3GAL1:NM_003033:exon4:c.C261T:p.T87T,ST3GAL1:NM_173344:exon5:c.C261T:p.T87T |
RS2230542 |
Major depressive disorder (narrow
definition):Major depressive disorder (narrow definition) (males):Major
depressive disorder (narrow definition) (females):HDL cholesterol:Waist hip
ratio:Years of education:Birth weight:Parkinson's disease:College completion |
|
8 |
141461062 |
1 |
TRAPPC9 |
G |
A |
exonic |
synonymous SNV |
TRAPPC9:NM_001160372:exon2:c.C411T:p.N137N,TRAPPC9:NM_001321646:exon2:c.C411T:p.N137N,TRAPPC9:NM_031466:exon2:c.C705T:p.N235N |
RS3735803 |
HOMA-B:Fasting blood glucose:Body
mass index (BMI):PROP taste detection threshold:Acute lung injury following
major trauma |
|
8 |
143808951 |
1 |
THEM6 |
C |
T |
exonic |
synonymous SNV |
THEM6:NM_016647:exon1:c.C187T:p.L63L |
RS2585138 |
HDL cholesterol:Methylation levels
at chr8:143759868-143759918 [hg18 coord, probe cg13446199] in
Cerebellum:Height:Gene expression of C8orf55 (probeID ILMN_1777740) in
temporal cortex in Alzheimer's disease cases and controls:Years of
education:Gene expression of C8orf55 (probeID ILMN_1777740) in cerebellum in
Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression
of PSCA in normal prepouch ileum:College completion |
|
8 |
143809193 |
1 |
THEM6 |
C |
T |
exonic |
synonymous SNV |
THEM6:NM_016647:exon1:c.C429T:p.G143G |
|
8 |
144332012 |
2 |
ZFP41 |
T |
C |
exonic |
startloss |
ZFP41:NM_001271156:exon2:c.T2C:p.M2del,ZFP41:NM_173832:exon2:c.T2C:p.M2del |
|
8 |
144332082 |
2 |
ZFP41 |
T |
C |
exonic |
synonymous SNV |
ZFP41:NM_001271156:exon2:c.T72C:p.S24S,ZFP41:NM_173832:exon2:c.T72C:p.S24S |
|
8 |
144351632 |
2 |
GLI4 |
A |
G |
exonic |
synonymous SNV |
GLI4:NM_138465:exon2:c.A66G:p.P22P |
|
8 |
144378868 |
2 |
ZNF696 |
A |
G |
exonic |
synonymous SNV |
ZNF696:NM_030895:exon3:c.A1023G:p.R341R |
|
8 |
144392368 |
1 |
TOP1MT |
G |
A |
exonic |
nonsynonymous SNV |
TOP1MT:NM_001258447:exon13:c.C1279T:p.R427W,TOP1MT:NM_052963:exon13:c.C1573T:p.R525W,TOP1MT:NM_001258446:exon14:c.C1279T:p.R427W |
RS2293925 |
Adiponectin levels:Gene expression
of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in
cerebellum in Alzheimer's disease cases and controls |
|
8 |
144403485 |
1 |
TOP1MT |
G |
C |
exonic |
synonymous SNV |
TOP1MT:NM_001258447:exon8:c.C738G:p.R246R,TOP1MT:NM_052963:exon8:c.C1032G:p.R344R,TOP1MT:NM_001258446:exon9:c.C738G:p.R246R |
|
8 |
144406705 |
1 |
TOP1MT |
C |
T |
exonic |
nonsynonymous SNV |
TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I |
RS11544484 |
Schizophrenia:HDL
cholesterol:Neuroblastoma (brain cancer):Gene expression of TOP1MT in
blood:Gene expression of ZNF696 in blood:Variant Creutzfeldt-Jakob
disease:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of TOP1MT (probeID
ILMN_2405628) in temporal cortex in Alzheimer's disease cases and
controls:Adiponectin levels |
|
8 |
144642881 |
1 |
GSDMD |
G |
A |
exonic |
synonymous SNV |
GSDMD:NM_024736:exon4:c.G519A:p.T173T,GSDMD:NM_001166237:exon7:c.G519A:p.T173T |
|
8 |
144642932 |
1 |
GSDMD |
G |
A |
exonic |
synonymous SNV |
GSDMD:NM_024736:exon4:c.G570A:p.T190T,GSDMD:NM_001166237:exon7:c.G570A:p.T190T |
|
8 |
144644405 |
1 |
GSDMD |
G |
A |
exonic |
synonymous SNV |
GSDMD:NM_024736:exon9:c.G1023A:p.P341P,GSDMD:NM_001166237:exon12:c.G1023A:p.P341P |
|
8 |
144671244 |
2 |
EEF1D |
C |
A |
exonic |
synonymous SNV |
EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,EEF1D:NM_032378:exon3:c.G1008T:p.R336R |
|
8 |
144671685 |
2 |
EEF1D |
G |
C |
exonic |
nonsynonymous SNV |
EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E |
|
8 |
144671922 |
2 |
EEF1D |
G |
A |
exonic |
synonymous SNV |
EEF1D:NM_001130053:exon3:c.C330T:p.R110R,EEF1D:NM_032378:exon3:c.C330T:p.R110R |
RS3812448 |
Gene expression of NAPRT1 [probe
226707_at] in lymphoblastoid cell lines:Methylation levels at
chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Cerebellum:Gene
expression of NAPRT1 in Frontal cortex:Gene expression of NAPRT1 in Caudal
pons:Gene expression of NAPRT1 in Temporal cortex:Microalbuminuria:Infant
head circumference:Gene expression of NAPRT1 (probeID ILMN_1710752) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
NAPRT1 (probeID ILMN_1710752) in whole blood:Gene expression of NAPRT1
(probeID ILMN_1710752) in cerebellum in Alzheimer's disease cases and
controls |
|
8 |
144681777 |
1 |
TIGD5 |
G |
T |
exonic |
nonsynonymous SNV |
TIGD5:NM_032862:exon1:c.G1704T:p.M568I |
RS10282929 |
Gene expression of FLJ12150 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of PP3856 in
CEU-CHB-JPT lymphoblastoid cell lines:Complex transcript isoform variation of
NAPRT1 in lymphoblastoid cell lines:Methylation levels at chr8:144732194-144732244
[hg18 coord, probe cg15537850] in Cerebellum:Methylation levels at
chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Caudal pons:Gene
expression of NAPRT1 in Temporal cortex:Gene expression of NAPRT1 in Caudal
pons:Gene expression of NAPRT1 in Cerebellum:Gene expression of NAPRT1 in
Frontal cortex:NAPRT1 gene expression:Gene expression of NAPRT1 (probeID
ILMN_1710752) in whole blood:Birth weight:Gene expression of LOC286076
(ENSG00000181097) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of NAPRT1 (probeID ILMN_1710752) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of NAPRT1 (probeID
ILMN_1710752) in temporal cortex in Alzheimer's disease cases and controls |
|
8 |
144688736 |
1 |
PYCR3 |
C |
G |
exonic |
nonsynonymous SNV |
PYCR3:NM_001329866:exon4:c.G426C:p.K142N,PYCR3:NM_023078:exon4:c.G486C:p.K162N |
|
8 |
144697041 |
1 |
TSTA3 |
A |
G |
exonic |
synonymous SNV |
TSTA3:NM_001317783:exon4:c.T324C:p.F108F,TSTA3:NM_003313:exon4:c.T306C:p.F102F |
RS1049832 |
Total cholesterol:LDL
cholesterol:Urinary albumin-to-creatinine ratio |
|
8 |
144732363 |
2 |
ZNF623 |
T |
C |
exonic |
synonymous SNV |
ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N |
|
8 |
144732418 |
2 |
ZNF623 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D |
|
8 |
144732450 |
1 |
ZNF623 |
G |
A |
exonic |
synonymous SNV |
ZNF623:NM_014789:exon1:c.G408A:p.S136S,ZNF623:NM_001082480:exon2:c.G288A:p.S96S,ZNF623:NM_001261843:exon2:c.G288A:p.S96S |
RS3750204 |
Irritible bowel syndrome:Rheumatoid
arthritis:Total cholesterol:HDL cholesterol:Gene expression of NGB in
peripheral blood monocytes:Gene expression of NAPRT1 in peripheral blood
monocytes:Gene expression of STON1 in peripheral blood monocytes:Gene expression
of FXYD2 in peripheral blood monocytes:Gene expression of DGKD in peripheral
blood monocytes:Gene expression of NAPRT1 in blood:Gene expression of TIGD5
in blood:Birth weight |
|
8 |
144775871 |
2 |
ZNF707 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF707:NM_001288808:exon4:c.C179A:p.P60H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H |
RS6987308 |
HOMA-IR:HOMA-B:Fasting insulin:Serum
creatinine:Birth weight |
|
8 |
144808747 |
1 |
FAM83H |
G |
A |
exonic |
synonymous SNV |
FAM83H:NM_198488:exon5:c.C2884T:p.L962L |
|
8 |
144809804 |
2 |
FAM83H |
G |
A |
exonic |
synonymous SNV |
FAM83H:NM_198488:exon5:c.C1827T:p.Y609Y |
|
8 |
144811338 |
2 |
FAM83H |
C |
G |
exonic |
nonsynonymous SNV |
FAM83H:NM_198488:exon3:c.G603C:p.Q201H |
|
8 |
144874554 |
2 |
SCRIB |
T |
C |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon32:c.A4350G:p.P1450P,SCRIB:NM_182706:exon32:c.A4350G:p.P1450P |
|
8 |
144877654 |
1 |
SCRIB |
T |
G |
exonic |
nonsynonymous SNV |
SCRIB:NM_015356:exon25:c.A3650C:p.H1217P,SCRIB:NM_182706:exon25:c.A3650C:p.H1217P |
|
8 |
144885580 |
2 |
SCRIB |
A |
G |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F |
|
8 |
144889172 |
2 |
SCRIB |
A |
G |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T |
RS10866915 |
Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Salmonella-induced pyroptosis |
|
8 |
144890873 |
2 |
SCRIB |
A |
T |
exonic |
nonsynonymous SNV |
SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E |
|
8 |
144894496 |
2 |
SCRIB |
G |
A |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T |
RS4875060 |
Hip bone mineral density
(BMD):Irritible bowel syndrome:Premature ovarian failure:Gene expression of
ZNF707 [probe ILMN_20149] in osteoblasts treated with pge-2:Hypertension
(early onset hypertension):Salmonella-induced pyroptosis |
|
8 |
144940300 |
1 |
EPPK1 |
G |
A |
exonic |
synonymous SNV |
EPPK1:NM_031308:exon2:c.C7122T:p.R2374R |
|
8 |
144990528 |
2 |
PLEC |
A |
G |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.T13419C:p.A4473A,PLEC:NM_201379:exon32:c.T13395C:p.A4465A,PLEC:NM_201380:exon32:c.T13872C:p.A4624A,PLEC:NM_201381:exon32:c.T13365C:p.A4455A,PLEC:NM_201382:exon32:c.T13461C:p.A4487A,PLEC:NM_201383:exon32:c.T13473C:p.A4491A,PLEC:NM_201384:exon32:c.T13461C:p.A4487A,PLEC:NM_000445:exon33:c.T13542C:p.A4514A |
RS7014582 |
Differential splicing of PLEC1
[probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Serum
creatinine:Total cholesterol:LDL cholesterol:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Bipolar disorder:Gene expression of GRINA (probeID
ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's
disease cases and controls |
|
8 |
144992103 |
2 |
PLEC |
T |
C |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.A11844G:p.T3948T,PLEC:NM_201379:exon32:c.A11820G:p.T3940T,PLEC:NM_201380:exon32:c.A12297G:p.T4099T,PLEC:NM_201381:exon32:c.A11790G:p.T3930T,PLEC:NM_201382:exon32:c.A11886G:p.T3962T,PLEC:NM_201383:exon32:c.A11898G:p.T3966T,PLEC:NM_201384:exon32:c.A11886G:p.T3962T,PLEC:NM_000445:exon33:c.A11967G:p.T3989T |
RS6558406 |
Differential exon level expression
of PARP10 [probe 3158043] in peripheral blood mononuclear cells:Differential
exon level expression of PLEC1 [probe 3157977] in peripheral blood
mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977]
in brain cortex:Serum creatinine:LDL cholesterol:Total
cholesterol:Height:Microalbuminuria:Gene expression of MAF1///KIAA1875 in
blood:Gene expression of PLEC1 in blood:Gene expression of GRINA in
blood:Gene expression of PARP10 in blood:Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's
disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum
in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases
and controls |
|
8 |
144992361 |
2 |
PLEC |
T |
C |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.A11586G:p.P3862P,PLEC:NM_201379:exon32:c.A11562G:p.P3854P,PLEC:NM_201380:exon32:c.A12039G:p.P4013P,PLEC:NM_201381:exon32:c.A11532G:p.P3844P,PLEC:NM_201382:exon32:c.A11628G:p.P3876P,PLEC:NM_201383:exon32:c.A11640G:p.P3880P,PLEC:NM_201384:exon32:c.A11628G:p.P3876P,PLEC:NM_000445:exon33:c.A11709G:p.P3903P |
|
8 |
144993324 |
2 |
PLEC |
C |
T |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.G10623A:p.T3541T,PLEC:NM_201379:exon32:c.G10599A:p.T3533T,PLEC:NM_201380:exon32:c.G11076A:p.T3692T,PLEC:NM_201381:exon32:c.G10569A:p.T3523T,PLEC:NM_201382:exon32:c.G10665A:p.T3555T,PLEC:NM_201383:exon32:c.G10677A:p.T3559T,PLEC:NM_201384:exon32:c.G10665A:p.T3555T,PLEC:NM_000445:exon33:c.G10746A:p.T3582T |
RS6984820 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:LDL cholesterol:Differential exon level
expression of PARP10 [probe 3158043] in peripheral blood mononuclear
cells:Differential exon level expression of PLEC1 [probe 3157977] in brain
cortex:Differential exon level expression of PLEC1 [probe 3157977] in
peripheral blood mononuclear cells:Serum creatinine:Total cholesterol:LDL
cholesterol:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene
expression of KIAA1875 in blood:Gene expression of MAF1///KIAA1875 in
blood:Gene expression of PARP10 in blood:Gene expression of [probe 6590240
centered at chr8:145011660] in blood:Gene expression of GRINA in blood:Gene
expression of PLEC1 in blood:Bipolar disorder:Gene expression of GRINA
(probeID ILMN_2370872) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in
Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in
cerebellum in Alzheimer's disease cases:Paternal transmission distortion:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's
disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum
in Progressive Supranuclear Palsy cases:Transmission distortion:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in
temporal cortex in Alzheimer's disease cases and controls |
|
8 |
144995736 |
2 |
PLEC |
G |
A |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.C8211T:p.N2737N,PLEC:NM_201379:exon32:c.C8187T:p.N2729N,PLEC:NM_201380:exon32:c.C8664T:p.N2888N,PLEC:NM_201381:exon32:c.C8157T:p.N2719N,PLEC:NM_201382:exon32:c.C8253T:p.N2751N,PLEC:NM_201383:exon32:c.C8265T:p.N2755N,PLEC:NM_201384:exon32:c.C8253T:p.N2751N,PLEC:NM_000445:exon33:c.C8334T:p.N2778N |
|
8 |
144996029 |
2 |
PLEC |
A |
G |
exonic |
nonsynonymous SNV |
PLEC:NM_201378:exon32:c.T7918C:p.S2640P,PLEC:NM_201379:exon32:c.T7894C:p.S2632P,PLEC:NM_201380:exon32:c.T8371C:p.S2791P,PLEC:NM_201381:exon32:c.T7864C:p.S2622P,PLEC:NM_201382:exon32:c.T7960C:p.S2654P,PLEC:NM_201383:exon32:c.T7972C:p.S2658P,PLEC:NM_201384:exon32:c.T7960C:p.S2654P,PLEC:NM_000445:exon33:c.T8041C:p.S2681P |
|
8 |
144996408 |
2 |
PLEC |
T |
G |
exonic |
synonymous SNV |
PLEC:NM_201378:exon32:c.A7539C:p.A2513A,PLEC:NM_201379:exon32:c.A7515C:p.A2505A,PLEC:NM_201380:exon32:c.A7992C:p.A2664A,PLEC:NM_201381:exon32:c.A7485C:p.A2495A,PLEC:NM_201382:exon32:c.A7581C:p.A2527A,PLEC:NM_201383:exon32:c.A7593C:p.A2531A,PLEC:NM_201384:exon32:c.A7581C:p.A2527A,PLEC:NM_000445:exon33:c.A7662C:p.A2554A |
|
8 |
144997023 |
1 |
PLEC |
C |
T |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.G7032A:p.A2344A,PLEC:NM_201379:exon31:c.G7008A:p.A2336A,PLEC:NM_201380:exon31:c.G7485A:p.A2495A,PLEC:NM_201381:exon31:c.G6978A:p.A2326A,PLEC:NM_201382:exon31:c.G7074A:p.A2358A,PLEC:NM_201383:exon31:c.G7086A:p.A2362A,PLEC:NM_201384:exon31:c.G7074A:p.A2358A,PLEC:NM_000445:exon32:c.G7155A:p.A2385A |
|
8 |
144997656 |
2 |
PLEC |
C |
T |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.G6399A:p.A2133A,PLEC:NM_201379:exon31:c.G6375A:p.A2125A,PLEC:NM_201380:exon31:c.G6852A:p.A2284A,PLEC:NM_201381:exon31:c.G6345A:p.A2115A,PLEC:NM_201382:exon31:c.G6441A:p.A2147A,PLEC:NM_201383:exon31:c.G6453A:p.A2151A,PLEC:NM_201384:exon31:c.G6441A:p.A2147A,PLEC:NM_000445:exon32:c.G6522A:p.A2174A |
|
8 |
144997927 |
2 |
PLEC |
G |
A |
exonic |
nonsynonymous SNV |
PLEC:NM_201378:exon31:c.C6128T:p.A2043V,PLEC:NM_201379:exon31:c.C6104T:p.A2035V,PLEC:NM_201380:exon31:c.C6581T:p.A2194V,PLEC:NM_201381:exon31:c.C6074T:p.A2025V,PLEC:NM_201382:exon31:c.C6170T:p.A2057V,PLEC:NM_201383:exon31:c.C6182T:p.A2061V,PLEC:NM_201384:exon31:c.C6170T:p.A2057V,PLEC:NM_000445:exon32:c.C6251T:p.A2084V |
|
8 |
144998169 |
2 |
PLEC |
C |
T |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.G5886A:p.A1962A,PLEC:NM_201379:exon31:c.G5862A:p.A1954A,PLEC:NM_201380:exon31:c.G6339A:p.A2113A,PLEC:NM_201381:exon31:c.G5832A:p.A1944A,PLEC:NM_201382:exon31:c.G5928A:p.A1976A,PLEC:NM_201383:exon31:c.G5940A:p.A1980A,PLEC:NM_201384:exon31:c.G5928A:p.A1976A,PLEC:NM_000445:exon32:c.G6009A:p.A2003A |
|
8 |
144999621 |
2 |
PLEC |
C |
T |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.G4434A:p.A1478A,PLEC:NM_201379:exon31:c.G4410A:p.A1470A,PLEC:NM_201380:exon31:c.G4887A:p.A1629A,PLEC:NM_201381:exon31:c.G4380A:p.A1460A,PLEC:NM_201382:exon31:c.G4476A:p.A1492A,PLEC:NM_201383:exon31:c.G4488A:p.A1496A,PLEC:NM_201384:exon31:c.G4476A:p.A1492A,PLEC:NM_000445:exon32:c.G4557A:p.A1519A |
|
8 |
144999642 |
2 |
PLEC |
A |
C |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.T4413G:p.A1471A,PLEC:NM_201379:exon31:c.T4389G:p.A1463A,PLEC:NM_201380:exon31:c.T4866G:p.A1622A,PLEC:NM_201381:exon31:c.T4359G:p.A1453A,PLEC:NM_201382:exon31:c.T4455G:p.A1485A,PLEC:NM_201383:exon31:c.T4467G:p.A1489A,PLEC:NM_201384:exon31:c.T4455G:p.A1485A,PLEC:NM_000445:exon32:c.T4536G:p.A1512A |
|
8 |
144999684 |
2 |
PLEC |
A |
G |
exonic |
synonymous SNV |
PLEC:NM_201378:exon31:c.T4371C:p.A1457A,PLEC:NM_201379:exon31:c.T4347C:p.A1449A,PLEC:NM_201380:exon31:c.T4824C:p.A1608A,PLEC:NM_201381:exon31:c.T4317C:p.A1439A,PLEC:NM_201382:exon31:c.T4413C:p.A1471A,PLEC:NM_201383:exon31:c.T4425C:p.A1475A,PLEC:NM_201384:exon31:c.T4413C:p.A1471A,PLEC:NM_000445:exon32:c.T4494C:p.A1498A |
|
8 |
145001031 |
2 |
PLEC |
T |
C |
exonic |
nonsynonymous SNV |
PLEC:NM_201378:exon30:c.A3923G:p.H1308R,PLEC:NM_201379:exon30:c.A3899G:p.H1300R,PLEC:NM_201380:exon30:c.A4376G:p.H1459R,PLEC:NM_201381:exon30:c.A3869G:p.H1290R,PLEC:NM_201382:exon30:c.A3965G:p.H1322R,PLEC:NM_201383:exon30:c.A3977G:p.H1326R,PLEC:NM_201384:exon30:c.A3965G:p.H1322R,PLEC:NM_000445:exon31:c.A4046G:p.H1349R |
|
8 |
145007187 |
2 |
PLEC |
G |
A |
exonic |
nonsynonymous SNV |
PLEC:NM_201378:exon14:c.C1469T:p.A490V,PLEC:NM_201379:exon14:c.C1445T:p.A482V,PLEC:NM_201380:exon14:c.C1922T:p.A641V,PLEC:NM_201381:exon14:c.C1415T:p.A472V,PLEC:NM_201382:exon14:c.C1511T:p.A504V,PLEC:NM_201383:exon14:c.C1523T:p.A508V,PLEC:NM_201384:exon14:c.C1511T:p.A504V,PLEC:NM_000445:exon15:c.C1592T:p.A531V |
RS11136336 |
Differential splicing of PLEC1
[probeset 3157977] in lymphoblastoid cell lines:Differential exon level
expression of PARP10 [probe 3158043] in peripheral blood mononuclear
cells:Differential exon level expression of PLEC1 [probe 3157977] in
peripheral blood mononuclear cells:Differential exon level expression of
PLEC1 [probe 3157977] in brain cortex:Total cholesterol:LDL
cholesterol:Height:Paternal transmission distortion:Gene expression of GRINA
(probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease
samples:Transmission distortion:Gene expression of GRINA (probeID
ILMN_2370872) in cerebellum in Alzheimer's disease cases and
controls:Maternal transmission distortion:Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's
disease cases:Hypertension (early onset hypertension):Advanced age-related
macular degeneration (geographic atrophy):Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in Alzheimer's disease cases:Gene expression
of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease
cases and controls |
|
8 |
145008560 |
2 |
PLEC |
A |
G |
exonic |
synonymous SNV |
PLEC:NM_201378:exon11:c.T1053C:p.D351D,PLEC:NM_201379:exon11:c.T1029C:p.D343D,PLEC:NM_201380:exon11:c.T1506C:p.D502D,PLEC:NM_201381:exon11:c.T999C:p.D333D,PLEC:NM_201382:exon11:c.T1095C:p.D365D,PLEC:NM_201383:exon11:c.T1107C:p.D369D,PLEC:NM_201384:exon11:c.T1095C:p.D365D,PLEC:NM_000445:exon12:c.T1176C:p.D392D |
|
8 |
145011204 |
2 |
PLEC |
A |
G |
exonic |
synonymous SNV |
PLEC:NM_201378:exon5:c.T336C:p.A112A,PLEC:NM_201379:exon5:c.T312C:p.A104A,PLEC:NM_201380:exon5:c.T789C:p.A263A,PLEC:NM_201381:exon5:c.T282C:p.A94A,PLEC:NM_201382:exon5:c.T378C:p.A126A,PLEC:NM_201383:exon5:c.T390C:p.A130A,PLEC:NM_201384:exon5:c.T378C:p.A126A,PLEC:NM_000445:exon6:c.T459C:p.A153A |
RS6993938 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Differential splicing of PLEC1
[probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Differential
exon level expression of PLEC1 [probe 3157977] in brain cortex:Differential
exon level expression of PLEC1 [probe 3157977] in peripheral blood
mononuclear cells:Differential exon level expression of PARP10 [probe
3158043] in peripheral blood mononuclear cells:LDL cholesterol:Total
cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression of PLEC1 in blood:Gene expression of GRINA in blood:Gene
expression of MAF1///KIAA1875 in blood:Gene expression of [probe 6590240
centered at chr8:145011660] in blood:Gene expression of PARP10 in
blood:Transmission distortion:Hypertension (early onset hypertension):Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's
disease cases and controls:Paternal transmission distortion |
|
8 |
145057868 |
2 |
PARP10 |
A |
G |
exonic |
nonsynonymous SNV |
PARP10:NM_001317895:exon7:c.T1925C:p.V642A,PARP10:NM_032789:exon8:c.T1889C:p.V630A |
|
8 |
145058986 |
2 |
PARP10 |
A |
G |
exonic |
nonsynonymous SNV |
PARP10:NM_001317895:exon4:c.T1220C:p.L407P,PARP10:NM_032789:exon5:c.T1184C:p.L395P |
RS11136343 |
Differential splicing of PLEC1
[probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Serum
creatinine:Lp-PLA2 activity:LDL cholesterol:Total cholesterol:Height:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Bipolar disorder:Gene expression
of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease
cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in
temporal cortex in Alzheimer's disease cases:Gene expression of GRINA
(probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples |
|
8 |
145059425 |
2 |
PARP10 |
T |
C |
exonic |
nonsynonymous SNV |
PARP10:NM_001317895:exon4:c.A781G:p.I261V,PARP10:NM_032789:exon5:c.A745G:p.I249V |
RS11136344 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Differential splicing of PLEC1
[probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Differential
exon level expression of PLEC1 [probe 3157977] in peripheral blood
mononuclear cells:Differential exon level expression of PARP10 [probe
3158043] in peripheral blood mononuclear cells:Differential exon level
expression of PLEC1 [probe 3157977] in brain cortex:Serum creatinine:Gene
expression of GRINA in peripheral blood monocytes:Gene expression of PARP10
in peripheral blood monocytes:Gene expression of OPLAH in peripheral blood
monocytes:Gene expression of NRBP2 in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of PLEC1 in blood:Gene expression
of PARP10 in blood:Gene expression of GRINA in blood:Gene expression of
KIAA1875 in blood:Gene expression of MAF1///KIAA1875 in blood:Gene expression
of [probe 6590240 centered at chr8:145011660] in blood:Bipolar
disorder:Transmission distortion:Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Paternal
transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in
cerebellum in Alzheimer's disease cases and controls:Maternal transmission
distortion:Gene expression of GRINA in normal prepouch ileum:Gene expression
of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease
cases and controls:Hypertension (early onset hypertension):Gene expression of
GRINA (probeID ILMN_2370872) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of GRINA (probeID
ILMN_2370872) in cerebellum in non-Alzheimer's disease samples:Gene
expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's
disease cases:Gene expression of GRINA (ENSG00000178719) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of GRINA (probeID
ILMN_2370872) in temporal cortex in Alzheimer's disease cases |
|
8 |
145060112 |
2 |
PARP10 |
G |
A |
exonic |
synonymous SNV |
PARP10:NM_001317895:exon2:c.C249T:p.H83H,PARP10:NM_032789:exon3:c.C213T:p.H71H |
|
8 |
145066886 |
2 |
GRINA |
A |
G |
exonic |
synonymous SNV |
GRINA:NM_000837:exon7:c.A993G:p.L331L,GRINA:NM_001009184:exon7:c.A993G:p.L331L |
|
8 |
145107795 |
2 |
OPLAH |
G |
A |
exonic |
synonymous SNV |
OPLAH:NM_017570:exon22:c.C3027T:p.A1009A |
|
8 |
145150101 |
2 |
CYC1 |
T |
G |
exonic |
synonymous SNV |
CYC1:NM_001916:exon1:c.T99G:p.R33R |
|
8 |
145150832 |
2 |
CYC1 |
A |
G |
exonic |
nonsynonymous SNV |
CYC1:NM_001916:exon2:c.A226G:p.M76V |
|
8 |
145158503 |
2 |
SHARPIN |
G |
T |
exonic |
synonymous SNV |
SHARPIN:NM_030974:exon1:c.C154A:p.R52R |
RS11136254 |
Gene expression change of GPAA1
(ENSG00000197858) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression change of KIAA1875 (ENSG00000179698) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
8 |
145160646 |
2 |
MAF1 |
T |
C |
exonic |
synonymous SNV |
MAF1:NM_032272:exon2:c.T60C:p.T20T |
|
8 |
145161823 |
2 |
MAF1 |
G |
A |
exonic |
nonsynonymous SNV |
MAF1:NM_032272:exon7:c.G706A:p.G236R |
|
8 |
145223288 |
2 |
MROH1 |
C |
T |
exonic |
nonsynonymous SNV |
MROH1:NM_001099281:exon3:c.C113T:p.A38V,MROH1:NM_001288814:exon3:c.C113T:p.A38V,MROH1:NM_001099280:exon4:c.C113T:p.A38V,MROH1:NM_032450:exon4:c.C113T:p.A38V |
|
8 |
145603114 |
1 |
ADCK5 |
A |
C |
exonic |
nonsynonymous SNV |
ADCK5:NM_174922:exon2:c.A51C:p.R17S |
RS6599528 |
Differential exon level expression
of CPSF1 [probe 3158522] in peripheral blood mononuclear cells:Differential
exon level expression of CPSF1 [probe 3158556] in peripheral blood
mononuclear cells:Differential exon level expression of CPSF1 [probe 3158566]
in peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158564] in peripheral blood mononuclear cells:Differential exon
level expression of CPSF1 [probe 3158557] in peripheral blood mononuclear
cells:Differential exon level expression of CPSF1 [probe 3158550] in
peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158530] in peripheral blood mononuclear cells:Differential exon
level expression of CPSF1 [probe 3158563] in peripheral blood mononuclear
cells:Differential exon level expression of CPSF1 [probe 3158524] in brain
cortex:Differential exon level expression of CPSF1 [probe 3158524] in
peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158519] in peripheral blood mononuclear cells:Differential exon
level expression of CPSF1 [probe 3158552] in peripheral blood mononuclear
cells:Differential exon level expression of CPSF1 [probe 3158549] in
peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158548] in peripheral blood mononuclear cells:Differential exon
level expression of CPSF1 [probe 3158534] in peripheral blood mononuclear
cells:Gene expression of CPSF1 [probe 3158516] in peripheral blood
mononuclear cells:Differential exon level expression of CPSF1 [probe 3158565]
in peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158518] in peripheral blood mononuclear cells:Gene expression
of CPSF1 [probe 3158516] in brain cortex:Differential exon level expression
of CPSF1 [probe 3158549] in brain cortex:Differential exon level expression
of CPSF1 [probe 3158551] in peripheral blood mononuclear cells:Differential
exon level expression of CPSF1 [probe 3158544] in peripheral blood
mononuclear cells:Differential exon level expression of CPSF1 [probe 3158526]
in peripheral blood mononuclear cells:Differential exon level expression of
CPSF1 [probe 3158562] in peripheral blood mononuclear cells:Gene expression
of CPSF1 in CD4+ lymphocytes:Gene expression of ADCK5///CPSF1///hsa-mir in
blood:Gene expression of CPSF1 [probeset 33132_at] in sputum:Gene expression
of CPSF1 [probeset 201639_s_at] in sputum:Variant Creutzfeldt-Jakob
disease:Gene expression of CPSF1 in liver:Advanced age-related macular
degeneration (geographic atrophy):Gene expression of CPSF1 (probeID
ILMN_1654545) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of CPSF1 (probeID ILMN_1654545) in cerebellum in
Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression
of CPSF1 in normal prepouch ileum |
|
8 |
145623963 |
1 |
CPSF1 |
G |
A |
exonic |
synonymous SNV |
CPSF1:NM_013291:exon18:c.C1704T:p.D568D |
|
8 |
145639726 |
2 |
SLC39A4 |
T |
C |
exonic |
nonsynonymous SNV |
SLC39A4:NM_017767:exon5:c.A994G:p.T332A,SLC39A4:NM_130849:exon6:c.A1069G:p.T357A |
RS2272662 |
Cystatin C in serum |
|
8 |
145640411 |
2 |
SLC39A4 |
A |
G |
exonic |
nonsynonymous SNV |
SLC39A4:NM_017767:exon3:c.T676C:p.W226R,SLC39A4:NM_130849:exon4:c.T751C:p.W251R |
RS2977838 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
8 |
145641328 |
1 |
SLC39A4 |
C |
T |
exonic |
nonsynonymous SNV |
SLC39A4:NM_017767:exon1:c.G265A:p.A89T,SLC39A4:NM_130849:exon2:c.G340A:p.A114T |
RS17855765 |
Cystatin C in serum:Years of
education |
|
8 |
145641564 |
1 |
SLC39A4 |
T |
G |
exonic |
nonsynonymous SNV |
SLC39A4:NM_017767:exon1:c.A29C:p.E10A |
RS2280839 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of VPS28 in blood cells in Celiac
disease:Schizophrenia:Cystatin C in serum:Autism with high IQ:Gene expression
of VPS28 in blood:Gene expression of LRRC14///LRRC24 in blood:Gene expression
of ADCK5///CPSF1///hsa-mir in blood:Gene expression of PPP1R16A///GPT in
blood:Gene expression of VPS28 [probeset 218679_s_at] in sputum:Age at death
with kuru exposure:Hypertension (early onset hypertension):Gene expression of
CPSF1 in normal prepouch ileum:Years of education:Paternal transmission
distortion:Transmission distortion |
|
8 |
145642002 |
1 |
SLC39A4 |
C |
T |
exonic |
nonsynonymous SNV |
SLC39A4:NM_130849:exon1:c.G172A:p.A58T |
RS2280838 |
HOMA-IR:Fasting insulin:Fasting
blood glucose |
|
8 |
145660490 |
1 |
TONSL |
G |
A |
exonic |
synonymous SNV |
TONSL:NM_013432:exon19:c.C2916T:p.C972C |
|
8 |
145661320 |
1 |
TONSL |
G |
A |
exonic |
synonymous SNV |
TONSL:NM_013432:exon17:c.C2496T:p.A832A |
|
8 |
145661675 |
1 |
TONSL |
G |
A |
exonic |
nonsynonymous SNV |
TONSL:NM_013432:exon17:c.C2141T:p.A714V |
RS7830832 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of VPS28 in blood cells in Celiac
disease:Autism with high IQ:Gene expression of ADCK5 in blood:Gene expression
of PPP1R16A///GPT in blood:Gene expression of ADCK5///CPSF1///hsa-mir in
blood:Gene expression of LRRC14///LRRC24 in blood:Gene expression of VPS28 in
blood:Gene expression of CPSF1 in normal prepouch ileum:Paternal transmission
distortion:Transmission distortion |
|
8 |
145665516 |
2 |
TONSL |
T |
C |
exonic |
synonymous SNV |
TONSL:NM_013432:exon11:c.A1368G:p.L456L |
|
8 |
145665761 |
2 |
TONSL |
G |
A |
exonic |
synonymous SNV |
TONSL:NM_013432:exon10:c.C1263T:p.A421A |
RS2229313 |
Cystatin C in serum:Birth
weight:Gene expression of VPS28 (ENSG00000160948) in dendritic cells:Gene
expression of CPSF1 in normal prepouch ileum:Gene expression of SLC39A4
(ENSG00000147804) in dendritic cells:Gene expression change of CPSF1
(ENSG00000071894) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of CPSF1 (ENSG00000071894) in dendritic cells
treated with Mycobacterium tuberculosis |
|
8 |
145689915 |
2 |
CYHR1 |
G |
A |
exonic |
synonymous SNV |
CYHR1:NM_138496:exon2:c.C174T:p.H58H,CYHR1:NM_001129888:exon3:c.C174T:p.H58H,CYHR1:NM_032687:exon3:c.C174T:p.H58H |
|
8 |
145692385 |
2 |
KIFC2 |
C |
T |
exonic |
synonymous SNV |
KIFC2:NM_145754:exon3:c.C222T:p.G74G |
|
8 |
145693720 |
2 |
KIFC2 |
A |
G |
exonic |
synonymous SNV |
KIFC2:NM_145754:exon8:c.A819G:p.A273A |
|
8 |
145737636 |
2 |
RECQL4 |
A |
G |
exonic |
synonymous SNV |
RECQL4:NM_004260:exon19:c.T3127C:p.L1043L |
|
8 |
145737816 |
1 |
RECQL4 |
C |
T |
exonic |
nonsynonymous SNV |
RECQL4:NM_004260:exon18:c.G3014A:p.R1005Q |
|
8 |
145741168 |
1 |
RECQL4 |
G |
C |
exonic |
nonsynonymous SNV |
RECQL4:NM_004260:exon6:c.C1238G:p.A413G |
|
8 |
145741169 |
1 |
RECQL4 |
C |
T |
exonic |
nonsynonymous SNV |
RECQL4:NM_004260:exon6:c.G1237A:p.A413T |
|
8 |
145741702 |
1 |
RECQL4 |
C |
G |
exonic |
nonsynonymous SNV |
RECQL4:NM_004260:exon5:c.G801C:p.E267D |
|
8 |
145741765 |
1 |
RECQL4 |
G |
A |
exonic |
synonymous SNV |
RECQL4:NM_004260:exon5:c.C738T:p.S246S |
RS4244613 |
HDL cholesterol:College
completion:Years of education |
|
8 |
145742514 |
2 |
RECQL4 |
A |
G |
exonic |
nonsynonymous SNV |
RECQL4:NM_004260:exon4:c.T274C:p.S92P |
|
8 |
145745182 |
2 |
LRRC14 |
T |
C |
exonic |
synonymous SNV |
LRRC14:NM_014665:exon2:c.T73C:p.L25L,LRRC14:NM_001272036:exon3:c.T73C:p.L25L |
|
8 |
145747920 |
2 |
LRRC24 |
T |
G |
exonic |
nonsynonymous SNV |
LRRC24:NM_001024678:exon5:c.A1481C:p.E494A |
|
8 |
145756170 |
1 |
ARHGAP39 |
G |
A |
exonic |
synonymous SNV |
ARHGAP39:NM_001308208:exon10:c.C2973T:p.D991D,ARHGAP39:NM_025251:exon10:c.C3066T:p.D1022D,ARHGAP39:NM_001308207:exon11:c.C2973T:p.D991D |
|
8 |
146033347 |
2 |
ZNF517 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF517:NM_001317936:exon5:c.T1025C:p.V342A,ZNF517:NM_213605:exon5:c.T1046C:p.V349A |
|
8 |
146067054 |
1 |
ZNF7 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF7:NM_001349805:exon3:c.G274A:p.G92R,ZNF7:NM_001282797:exon4:c.G274A:p.G92R,ZNF7:NM_001349809:exon4:c.G625A:p.G209R,ZNF7:NM_001282795:exon5:c.G595A:p.G199R,ZNF7:NM_001349806:exon5:c.G613A:p.G205R,ZNF7:NM_001349807:exon5:c.G559A:p.G187R,ZNF7:NM_001349808:exon5:c.G610A:p.G204R,ZNF7:NM_003416:exon5:c.G562A:p.G188R |
RS1735169 |
Gene expression of RPL8 in CEU
lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid arthritis:LDL
cholesterol:Gene expression of RPL8 [probe 3159040] in peripheral blood
mononuclear cells:Differential exon level expression of RPL8 [probe 3159044] in
peripheral blood mononuclear cells:Fasting insulin:Cystatin C in
serum:Methylation levels at chr8:146024470-146024520 [hg18 coord, probe
cg20845050] in Temporal cortex:Triglycerides:HDL cholesterol:Gene expression
of ZNF34 [probe ILMN_7366] in osteoblasts treated with PGE2:Gene expression
of COMMD5 in blood:Gene expression of ZNF7 in blood:Gene expression of
ENST00000262584 in blood:Gene expression of ZNF34 in blood:Gene expression of
ZNF517///ENST00000377296 in blood:Bipolar disorder:Gene expression of ZNF7
(probeID ILMN_2137066) in temporal cortex in Alzheimer's disease cases and
controls:Salmonella-induced pyroptosis:Gene expression of ZNF7 (probeID
ILMN_2137066) in cerebellum in Alzheimer's disease cases and
controls:Tetrology of fallot:Gene expression of ZNF7 (probeID ILMN_2137066)
in temporal cortex in Alzheimer's disease cases:Gene expression of ZNF7
(probeID ILMN_2137066) in cerebellum in non-Alzheimer's disease samples:Gene
expression of RPL8 (probeID ILMN_1811433) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF7
(probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases:Gene
expression of RPL8 (probeID ILMN_1811433) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in
temporal cortex in Progressive Supranuclear Palsy cases |
|
8 |
146068322 |
1 |
ZNF7 |
C |
T |
exonic |
synonymous SNV |
ZNF7:NM_001349805:exon3:c.C1542T:p.Y514Y,ZNF7:NM_001282797:exon4:c.C1542T:p.Y514Y,ZNF7:NM_001349809:exon4:c.C1893T:p.Y631Y,ZNF7:NM_001282795:exon5:c.C1863T:p.Y621Y,ZNF7:NM_001349806:exon5:c.C1881T:p.Y627Y,ZNF7:NM_001349807:exon5:c.C1827T:p.Y609Y,ZNF7:NM_001349808:exon5:c.C1878T:p.Y626Y,ZNF7:NM_003416:exon5:c.C1830T:p.Y610Y |
RS9004 |
Gene expression of RPL8 in CEU
lymphoblastoid cell lines:Gene expression of RPL8 [probe 200936_at] in
lymphoblastoid cell lines:Cystatin C in serum:Methylation levels at
chr8:146024470-146024520 [hg18 coord, probe cg20845050] in Temporal
cortex:HDL cholesterol:Gene expression of ZNF7 (probeID ILMN_2137066) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
ZNF7 (probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases and
controls |
|
8 |
146076708 |
1 |
COMMD5 |
C |
T |
exonic |
nonsynonymous SNV |
COMMD5:NM_001081003:exon2:c.G16A:p.A6T,COMMD5:NM_001081004:exon2:c.G16A:p.A6T,COMMD5:NM_001287237:exon2:c.G16A:p.A6T,COMMD5:NM_014066:exon2:c.G16A:p.A6T |
RS1209879 |
Gene expression of RPL8 in CEU
lymphoblastoid cell lines:Gene expression of RPL8 [probe 200936_at] in
lymphoblastoid cell lines:Cystatin C in serum:Methylation levels at
chr8:146024470-146024520 [hg18 coord, probe cg20845050] in Temporal
cortex:Triglycerides:HDL cholesterol:Gene expression of ZNF7 (probeID
ILMN_2137066) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in
Alzheimer's disease cases and controls |
|
8 |
146115367 |
2 |
ZNF250 |
A |
G |
exonic |
synonymous SNV |
ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G |
|
9 |
17011 |
2 |
WASHC1 |
T |
C |
exonic |
synonymous SNV |
WASHC1:NM_182905:exon7:c.A837G:p.P279P |
|
9 |
17107 |
2 |
WASHC1 |
T |
C |
exonic |
synonymous SNV |
WASHC1:NM_182905:exon7:c.A741G:p.P247P |
|
9 |
712060 |
1 |
KANK1 |
G |
C |
exonic |
nonsynonymous SNV |
KANK1:NM_153186:exon2:c.G820C:p.E274Q,KANK1:NM_015158:exon3:c.G1294C:p.E432Q,KANK1:NM_001256877:exon4:c.G1294C:p.E432Q,KANK1:NM_001256876:exon7:c.G1294C:p.E432Q |
RS4465020 |
LDL cholesterol |
|
9 |
712599 |
1 |
KANK1 |
C |
T |
exonic |
synonymous SNV |
KANK1:NM_153186:exon2:c.C1359T:p.N453N,KANK1:NM_015158:exon3:c.C1833T:p.N611N,KANK1:NM_001256877:exon4:c.C1833T:p.N611N,KANK1:NM_001256876:exon7:c.C1833T:p.N611N |
|
9 |
712843 |
1 |
KANK1 |
G |
A |
exonic |
nonsynonymous SNV |
KANK1:NM_153186:exon2:c.G1603A:p.E535K,KANK1:NM_015158:exon3:c.G2077A:p.E693K,KANK1:NM_001256877:exon4:c.G2077A:p.E693K,KANK1:NM_001256876:exon7:c.G2077A:p.E693K |
|
9 |
742342 |
2 |
KANK1 |
A |
G |
exonic |
synonymous SNV |
KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G |
|
9 |
4662426 |
1 |
PLPP6 |
T |
G |
exonic |
synonymous SNV |
PLPP6:NM_203453:exon1:c.T51G:p.A17A |
|
9 |
6589230 |
1 |
GLDC |
C |
T |
exonic |
synonymous SNV |
GLDC:NM_000170:exon12:c.G1545A:p.R515R |
|
9 |
6610326 |
1 |
GLDC |
C |
T |
exonic |
synonymous SNV |
GLDC:NM_000170:exon4:c.G501A:p.E167E |
|
9 |
6984236 |
1 |
KDM4C |
G |
A |
exonic |
nonsynonymous SNV |
KDM4C:NM_001304340:exon9:c.G643A:p.D215N,KDM4C:NM_001146695:exon10:c.G1186A:p.D396N,KDM4C:NM_001146696:exon10:c.G1252A:p.D418N,KDM4C:NM_001304339:exon10:c.G1186A:p.D396N,KDM4C:NM_015061:exon10:c.G1186A:p.D396N |
RS2296067 |
Spine bone mineral density
(BMD):Barnes Akathisia Rating Scale:LDL cholesterol:HDL cholesterol:Total
cholesterol:Lp-PLA2 activity:Partial epilepsy |
|
9 |
7103816 |
1 |
KDM4C |
C |
T |
exonic |
synonymous SNV |
KDM4C:NM_001304340:exon16:c.C1791T:p.D597D,KDM4C:NM_001304339:exon18:c.C2556T:p.D852D,KDM4C:NM_015061:exon18:c.C2556T:p.D852D |
RS3763651 |
Triglycerides:Total cholesterol |
|
9 |
7798518 |
1 |
TMEM261 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM261:NM_001318059:exon2:c.C308G:p.T103R |
RS4742410 |
Birth weight |
|
9 |
7799606 |
1 |
TMEM261 |
C |
A |
exonic |
synonymous SNV |
TMEM261:NM_001318058:exon1:c.G129T:p.L43L,TMEM261:NM_001318059:exon1:c.G129T:p.L43L,TMEM261:NM_033428:exon1:c.G129T:p.L43L |
RS14059 |
Fasting insulin:HOMA-IR:HOMA-B:Gene
expression of C9orf123 [probe ILMN_1979] in osteoblasts treated with
BMP2:Gene expression of C9orf123 [transcript NM_033428, probe A_32_P134846]
in liver:Gene expression of C9orf123 in blood:Advanced age-related macular
degeneration:Refractive error:Advanced age-related macular degeneration
(geographic atrophy):Hypertension (early onset hypertension) |
|
9 |
7799653 |
1 |
TMEM261 |
G |
T |
exonic |
nonsynonymous SNV |
TMEM261:NM_001318058:exon1:c.C82A:p.P28T,TMEM261:NM_001318059:exon1:c.C82A:p.P28T,TMEM261:NM_033428:exon1:c.C82A:p.P28T |
|
9 |
14775853 |
2 |
FREM1 |
A |
G |
exonic |
synonymous SNV |
FREM1:NM_001177704:exon2:c.T399C:p.D133D,FREM1:NM_144966:exon26:c.T4791C:p.D1597D |
RS1032474 |
Advanced age-related macular
degeneration (geographic atrophy):Migraine |
|
9 |
14775859 |
2 |
FREM1 |
G |
A |
exonic |
synonymous SNV |
FREM1:NM_001177704:exon2:c.C393T:p.A131A,FREM1:NM_144966:exon26:c.C4785T:p.A1595A |
RS10733289 |
Fasting blood glucose:Urinary
albumin-to-creatinine ratio:Obesity (body mass index (BMI)):Body mass index
(BMI):College completion:Years of education |
|
9 |
17342383 |
2 |
CNTLN |
C |
T |
exonic |
synonymous SNV |
CNTLN:NM_017738:exon12:c.C1827T:p.D609D |
|
9 |
19058425 |
1 |
HAUS6 |
G |
A |
exonic |
synonymous SNV |
HAUS6:NM_001270890:exon16:c.C2235T:p.L745L,HAUS6:NM_017645:exon16:c.C2340T:p.L780L |
|
9 |
19063108 |
1 |
HAUS6 |
T |
C |
exonic |
synonymous SNV |
HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L |
|
9 |
19346451 |
1 |
DENND4C |
G |
A |
exonic |
synonymous SNV |
DENND4C:NM_017925:exon22:c.G3537A:p.R1179R,DENND4C:NM_001330640:exon23:c.G3684A:p.R1228R |
|
9 |
20866974 |
2 |
FOCAD |
C |
G |
exonic |
nonsynonymous SNV |
FOCAD:NM_017794:exon20:c.C2153G:p.T718S |
|
9 |
21333254 |
1 |
KLHL9 |
T |
C |
exonic |
synonymous SNV |
KLHL9:NM_018847:exon1:c.A1605G:p.Q535Q |
|
9 |
21854740 |
1 |
MTAP |
C |
T |
exonic |
synonymous SNV |
MTAP:NM_002451:exon6:c.C561T:p.R187R |
RS10965163 |
Height:Refractive error:Advanced
age-related macular degeneration:Paternal transmission distortion |
|
9 |
32425910 |
1 |
ACO1 |
A |
G |
exonic |
synonymous SNV |
ACO1:NM_002197:exon11:c.A1263G:p.E421E,ACO1:NM_001278352:exon12:c.A1263G:p.E421E |
RS3780473 |
Rheumatoid arthritis:Longstanding
arthritis:HDL cholesterol:Total cholesterol:Chronic kidney disease:Gene
expression of DDX58 in blood:Mitral annular calcium:Gene expression of ACO1
in normal prepouch ileum |
|
9 |
33026572 |
1 |
DNAJA1 |
T |
C |
exonic |
synonymous SNV |
DNAJA1:NM_001539:exon2:c.T90C:p.A30A |
RS20583 |
Fasting blood glucose:Gene
expression of APTX in blood:Gene expression of SMU1 in blood:Resistance to
kuru in aged women despite likely exposure |
|
9 |
33264540 |
2 |
BAG1 |
C |
G |
exonic |
nonsynonymous SNV |
BAG1:NM_004323:exon1:c.G133C:p.G45R |
|
9 |
33927899 |
2 |
UBAP2 |
G |
A |
exonic |
nonsynonymous SNV |
UBAP2:NM_001282529:exon16:c.C1466T:p.A489V,UBAP2:NM_018449:exon20:c.C2267T:p.A756V |
|
9 |
34017106 |
2 |
UBAP2 |
C |
T |
exonic |
nonsynonymous SNV |
UBAP2:NM_018449:exon2:c.G41A:p.R14Q |
RS1785506 |
2 hour
glucose:HOMA-B:HOMA-IR:Fasting insulin:Serum creatinine:Height:Urinary
albumin-to-creatinine ratio:Aortic valve calcium:Infant head
circumference:Parkinson's disease:Obesity with early age of onset (age
>2):Hypertension (early onset hypertension):Advanced age-related macular
degeneration |
|
9 |
34107504 |
1 |
DCAF12 |
C |
T |
exonic |
synonymous SNV |
DCAF12:NM_015397:exon3:c.G393A:p.R131R |
|
9 |
34372783 |
2 |
KIAA1161 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
9 |
34372873 |
2 |
KIAA1161 |
C |
G |
exonic |
unknown |
UNKNOWN |
|
9 |
34372931 |
1 |
KIAA1161 |
T |
A |
exonic |
unknown |
UNKNOWN |
RS2297776 |
Urinary albumin-to-creatinine
ratio:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Parkinson's disease |
|
9 |
35107765 |
2 |
FAM214B |
C |
A |
exonic |
synonymous SNV |
FAM214B:NM_001317991:exon3:c.G507T:p.G169G,FAM214B:NM_025182:exon3:c.G507T:p.G169G |
|
9 |
35107858 |
2 |
FAM214B |
C |
T |
exonic |
synonymous SNV |
FAM214B:NM_001317991:exon3:c.G414A:p.S138S,FAM214B:NM_025182:exon3:c.G414A:p.S138S |
|
9 |
35606884 |
2 |
TESK1 |
G |
A |
exonic |
nonsynonymous SNV |
TESK1:NM_001318230:exon4:c.G44A:p.C15Y |
|
9 |
35660990 |
1 |
CCDC107 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V |
RS1339374 |
Schizophrenia:Autism:Gene
expression of CA9 [probe ILMN_26612] in osteoblasts with treatment
interaction:Gene expression of TPM2 in blood:Gene expression of CA9///TPM2 in
blood:Bipolar disorder:Gene expression change of MSMP (ENSG00000215183) in
dendritic cells after treatment with Mycobacterium tuberculosis:College
completion:Gene expression of MSMP (ENSG00000215183) in dendritic cells
treated with Mycobacterium tuberculosis |
|
9 |
35674053 |
1 |
CA9 |
G |
A |
exonic |
nonsynonymous SNV |
CA9:NM_001216:exon1:c.G97A:p.V33M |
RS2071676 |
HOMA-B |
|
9 |
35706058 |
1 |
TLN1 |
G |
A |
exonic |
synonymous SNV |
TLN1:NM_006289:exon41:c.C5412T:p.T1804T |
|
9 |
35749845 |
1 |
RGP1 |
G |
C |
exonic |
synonymous SNV |
RGP1:NM_001080496:exon2:c.G93C:p.P31P |
RS2236288 |
LDL cholesterol:Height:Body mass
index (BMI):Microalbuminuria |
|
9 |
36674842 |
2 |
MELK |
C |
T |
exonic |
synonymous SNV |
MELK:NM_001256692:exon14:c.C1293T:p.N431N,MELK:NM_001256688:exon15:c.C1473T:p.N491N,MELK:NM_001256690:exon15:c.C1473T:p.N491N,MELK:NM_001256691:exon15:c.C1446T:p.N482N,MELK:NM_001256693:exon15:c.C1104T:p.N368N,MELK:NM_001256685:exon16:c.C1563T:p.N521N,MELK:NM_001256687:exon16:c.C1542T:p.N514N,MELK:NM_001256689:exon16:c.C1590T:p.N530N,MELK:NM_014791:exon17:c.C1686T:p.N562N |
RS2274473 |
Total cholesterol:Diastolic blood
pressure (DBP):Infant head circumference |
|
9 |
37429814 |
1 |
GRHPR |
A |
G |
exonic |
synonymous SNV |
GRHPR:NM_012203:exon6:c.A579G:p.A193A |
RS309458 |
LDL cholesterol |
|
9 |
37441808 |
2 |
ZBTB5 |
A |
G |
exonic |
synonymous SNV |
ZBTB5:NM_014872:exon2:c.T741C:p.D247D |
|
9 |
37493588 |
1 |
POLR1E |
C |
T |
exonic |
synonymous SNV |
POLR1E:NM_022490:exon6:c.C435T:p.T145T,POLR1E:NM_001282766:exon7:c.C225T:p.T75T |
RS10758434 |
Gene expression of PAF53 in CHB-JPT
lymphoblastoid cell lines:Gene expression of POLR1E [probe 218997_at] in
lymphoblastoid cell lines:HOMA-B:Gene expression of POLR1E in normal prepouch
ileum |
|
9 |
37500895 |
1 |
POLR1E |
T |
C |
exonic |
synonymous SNV |
POLR1E:NM_022490:exon10:c.T945C:p.T315T,POLR1E:NM_001282766:exon11:c.T735C:p.T245T |
RS2277161 |
Gene expression of PAF53 in CHB-JPT
lymphoblastoid cell lines:HOMA-B:Gene expression of POLR1E in normal prepouch
ileum |
|
9 |
37503087 |
1 |
POLR1E |
G |
A |
exonic |
nonsynonymous SNV |
POLR1E:NM_022490:exon12:c.G1148A:p.R383K,POLR1E:NM_001282766:exon13:c.G938A:p.R313K |
RS10814571 |
Gene expression of POLR1E [probe
218997_at] in lymphoblastoid cell lines:Hip bone mineral density
(BMD):Longstanding arthritis:Schizophrenia:Differential exon level expression
of POLR1E [probe 3168947] in brain cortex:Differential exon level expression
of POLR1E [probe 3168947] in peripheral blood mononuclear cells:HOMA-B:Gene
expression of POLR1E in normal prepouch ileum:Maternal transmission
distortion |
|
9 |
37503124 |
2 |
POLR1E |
G |
A |
exonic |
synonymous SNV |
POLR1E:NM_022490:exon12:c.G1185A:p.K395K,POLR1E:NM_001282766:exon13:c.G975A:p.K325K |
|
9 |
37521777 |
1 |
FBXO10 |
G |
A |
exonic |
synonymous SNV |
FBXO10:NM_012166:exon8:c.C1989T:p.N663N |
|
9 |
37782111 |
2 |
EXOSC3 |
C |
T |
exonic |
synonymous SNV |
EXOSC3:NM_016042:exon3:c.G498A:p.Q166Q |
|
9 |
37974743 |
1 |
SHB |
T |
C |
exonic |
synonymous SNV |
SHB:NM_003028:exon3:c.A930G:p.S310S |
RS1138374 |
Coronary artery disease (CAD),
combined control dataset, gender differentiated:Major depressive
disorder:Gene expression of SHB in peripheral blood monocytes:Gene expression
of RNF186 in peripheral blood monocytes:Bipolar disorder:Infant head
circumference:Years of education:Mitral annular calcium |
|
9 |
38068532 |
2 |
SHB |
A |
G |
exonic |
synonymous SNV |
SHB:NM_003028:exon1:c.T111C:p.P37P |
|
9 |
38395940 |
2 |
ALDH1B1 |
T |
C |
exonic |
synonymous SNV |
ALDH1B1:NM_000692:exon2:c.T195C:p.I65I |
|
9 |
38396502 |
2 |
ALDH1B1 |
G |
A |
exonic |
nonsynonymous SNV |
ALDH1B1:NM_000692:exon2:c.G757A:p.V253M |
RS4878199 |
Abnormal Involuntary Movement
Scale:Aortic valve calcium |
|
9 |
43822704 |
1 |
CNTNAP3B |
G |
A |
exonic |
nonsynonymous SNV |
CNTNAP3B:NM_001201380:exon8:c.G1258A:p.V420I |
|
9 |
43885012 |
2 |
CNTNAP3B |
A |
G |
exonic |
nonsynonymous SNV |
CNTNAP3B:NM_001201380:exon15:c.A2305G:p.T769A |
|
9 |
49022700 |
2 |
|
9 |
70466490 |
2 |
|
9 |
71650752 |
2 |
FXN |
A |
G |
exonic |
synonymous SNV |
FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P |
|
9 |
71843023 |
2 |
TJP2 |
C |
A |
exonic |
nonsynonymous SNV |
TJP2:NM_001170415:exon9:c.C1458A:p.D486E,TJP2:NM_001170416:exon9:c.C1539A:p.D513E,TJP2:NM_004817:exon9:c.C1446A:p.D482E,TJP2:NM_201629:exon9:c.C1446A:p.D482E,TJP2:NM_001170414:exon10:c.C1377A:p.D459E |
RS2309428 |
Fasting blood glucose:Nonalcoholic
fatty liver disease (Alanine aminotransferase (ALT)):Nonalcoholic fatty liver
disease (Aspartate aminotransferase (AST)) |
|
9 |
71851877 |
1 |
TJP2 |
G |
A |
exonic |
nonsynonymous SNV |
TJP2:NM_001170415:exon14:c.G2016A:p.M672I,TJP2:NM_001170416:exon14:c.G2097A:p.M699I,TJP2:NM_004817:exon14:c.G2004A:p.M668I,TJP2:NM_201629:exon14:c.G2004A:p.M668I,TJP2:NM_001170414:exon15:c.G1935A:p.M645I |
|
9 |
72897434 |
2 |
SMC5 |
G |
A |
exonic |
nonsynonymous SNV |
SMC5:NM_015110:exon7:c.G916A:p.V306I |
RS1180116 |
Longstanding arthritis:Fasting
blood glucose:LDL cholesterol:Asthma:Alzheimer's disease:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure
(SBP):Years of education:Infant head circumference:Acute lung injury
following major trauma:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
9 |
74305020 |
1 |
TMEM2 |
C |
T |
exonic |
nonsynonymous SNV |
TMEM2:NM_001135820:exon21:c.G3650A:p.G1217D,TMEM2:NM_001349784:exon22:c.G1925A:p.G642D,TMEM2:NM_013390:exon22:c.G3839A:p.G1280D |
RS17475375 |
Comorbid depressive syndrome and
alcohol dependence |
|
9 |
74319576 |
1 |
TMEM2 |
A |
T |
exonic |
synonymous SNV |
TMEM2:NM_001135820:exon17:c.T2940A:p.G980G,TMEM2:NM_001349784:exon18:c.T1215A:p.G405G,TMEM2:NM_013390:exon18:c.T3129A:p.G1043G |
RS25696 |
Fasting insulin:Birth weight |
|
9 |
74319677 |
1 |
TMEM2 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM2:NM_001135820:exon17:c.A2839G:p.I947V,TMEM2:NM_001349784:exon18:c.A1114G:p.I372V,TMEM2:NM_013390:exon18:c.A3028G:p.I1010V |
RS17057133 |
Fasting insulin:Birth weight |
|
9 |
75545882 |
2 |
ALDH1A1 |
G |
A |
exonic |
synonymous SNV |
ALDH1A1:NM_000689:exon3:c.C225T:p.S75S |
|
9 |
79003516 |
1 |
RFK |
C |
G |
exonic |
synonymous SNV |
RFK:NM_018339:exon3:c.G291C:p.V97V |
|
9 |
80879149 |
1 |
CEP78 |
C |
T |
exonic |
synonymous SNV |
CEP78:NM_001098802:exon13:c.C1545T:p.I515I,CEP78:NM_001330691:exon13:c.C1542T:p.I514I,CEP78:NM_001330693:exon13:c.C1542T:p.I514I,CEP78:NM_001330694:exon13:c.C1542T:p.I514I,CEP78:NM_001349838:exon13:c.C1542T:p.I514I,CEP78:NM_001349839:exon13:c.C1545T:p.I515I,CEP78:NM_001349840:exon13:c.C1545T:p.I515I,CEP78:NM_032171:exon13:c.C1545T:p.I515I |
RS1057650 |
Hip bone mineral density (BMD):LDL
cholesterol:Triglycerides:Triglycerides:Refractive error |
|
9 |
80919756 |
1 |
PSAT1 |
T |
G |
exonic |
synonymous SNV |
PSAT1:NM_021154:exon4:c.T297G:p.A99A,PSAT1:NM_058179:exon4:c.T297G:p.A99A |
RS3739474 |
LDL cholesterol:HDL cholesterol:Male
fertility (birth rate):Male fertility (family size) |
|
9 |
84267147 |
2 |
TLE1 |
T |
C |
exonic |
synonymous SNV |
TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E |
RS2228173 |
Years of education |
|
9 |
86278817 |
2 |
UBQLN1 |
C |
A |
exonic |
synonymous SNV |
UBQLN1:NM_053067:exon9:c.G1506T:p.L502L,UBQLN1:NM_013438:exon10:c.G1590T:p.L530L |
RS7866234 |
HDL cholesterol:College completion |
|
9 |
86284178 |
2 |
UBQLN1 |
C |
A |
exonic |
synonymous SNV |
UBQLN1:NM_013438:exon7:c.G1170T:p.L390L,UBQLN1:NM_053067:exon7:c.G1170T:p.L390L |
RS1044175 |
PROP taste detection threshold |
|
9 |
86498754 |
1 |
KIF27 |
T |
C |
exonic |
nonsynonymous SNV |
KIF27:NM_001271927:exon10:c.A2419G:p.M807V,KIF27:NM_001271928:exon10:c.A2419G:p.M807V,KIF27:NM_017576:exon10:c.A2419G:p.M807V |
|
9 |
86498846 |
1 |
KIF27 |
A |
G |
exonic |
nonsynonymous SNV |
KIF27:NM_001271927:exon10:c.T2327C:p.I776T,KIF27:NM_001271928:exon10:c.T2327C:p.I776T,KIF27:NM_017576:exon10:c.T2327C:p.I776T |
|
9 |
86498848 |
1 |
KIF27 |
C |
T |
exonic |
synonymous SNV |
KIF27:NM_001271927:exon10:c.G2325A:p.L775L,KIF27:NM_001271928:exon10:c.G2325A:p.L775L,KIF27:NM_017576:exon10:c.G2325A:p.L775L |
|
9 |
88959938 |
2 |
ZCCHC6 |
C |
T |
exonic |
synonymous SNV |
ZCCHC6:NM_001185059:exon5:c.G951A:p.L317L,ZCCHC6:NM_001185074:exon5:c.G951A:p.L317L,ZCCHC6:NM_024617:exon5:c.G951A:p.L317L |
RS791323 |
Asthma:Height |
|
9 |
95782667 |
2 |
FGD3 |
C |
T |
exonic |
synonymous SNV |
FGD3:NM_001083536:exon13:c.C1455T:p.F485F,FGD3:NM_001286993:exon13:c.C1455T:p.F485F,FGD3:NM_033086:exon13:c.C1455T:p.F485F |
RS11790517 |
HOMA-B:Gene expression of SUSD3 in
peripheral blood monocytes:Height |
|
9 |
95875381 |
1 |
CARD19 |
G |
C |
exonic |
nonsynonymous SNV |
CARD19:NM_001318011:exon5:c.G484C:p.G162R,CARD19:NM_032310:exon6:c.G544C:p.G182R |
|
9 |
95887320 |
2 |
NINJ1 |
G |
T |
exonic |
nonsynonymous SNV |
NINJ1:NM_004148:exon3:c.C329A:p.A110D |
RS2275848 |
Gene expression of C9orf89 in
CHB-JPT lymphoblastoid cell lines:Gene expression of NINJ1 probe
[GI_31543289-S] in brain cortex with no Alzheimer's
interaction:HOMA-IR:Fasting insulin:Gene expression of NINJ1 in blood:Age at
death with kuru exposure:Extreme obesity with early age of onset |
|
9 |
96015247 |
1 |
WNK2 |
C |
T |
exonic |
synonymous SNV |
WNK2:NM_001282394:exon8:c.C1917T:p.S639S,WNK2:NM_006648:exon8:c.C1917T:p.S639S |
|
9 |
96055063 |
1 |
WNK2 |
C |
T |
exonic |
synonymous SNV |
WNK2:NM_006648:exon22:c.C5316T:p.D1772D,WNK2:NM_001282394:exon23:c.C5427T:p.D1809D |
|
9 |
96238578 |
1 |
FAM120A |
C |
T |
exonic |
synonymous SNV |
FAM120A:NM_001286722:exon3:c.C762T:p.H254H,FAM120A:NM_001286723:exon3:c.C762T:p.H254H,FAM120A:NM_001286724:exon3:c.C762T:p.H254H,FAM120A:NM_014612:exon3:c.C762T:p.H254H |
RS10821135 |
LDL cholesterol |
|
9 |
96278474 |
1 |
FAM120A |
C |
T |
exonic |
synonymous SNV |
FAM120A:NM_001286722:exon7:c.C1338T:p.H446H,FAM120A:NM_001286723:exon7:c.C1341T:p.H447H,FAM120A:NM_001286724:exon7:c.C1341T:p.H447H,FAM120A:NM_014612:exon7:c.C1341T:p.H447H |
|
9 |
97912307 |
1 |
FANCC |
T |
A |
exonic |
nonsynonymous SNV |
FANCC:NM_000136:exon7:c.A584T:p.D195V,FANCC:NM_001243743:exon7:c.A584T:p.D195V,FANCC:NM_001243744:exon7:c.A584T:p.D195V |
|
9 |
100388119 |
1 |
TSTD2 |
G |
T |
exonic |
nonsynonymous SNV |
TSTD2:NM_139246:exon3:c.C326A:p.A109D |
RS10817858 |
Major depressive disorder:Recurrent
early onset major depressive disorder (males):Microalbuminuria:Obesity with
early age of onset (age >2):Transmission distortion |
|
9 |
100388197 |
1 |
TSTD2 |
C |
T |
exonic |
nonsynonymous SNV |
TSTD2:NM_139246:exon3:c.G248A:p.R83Q |
RS2773347 |
LDL cholesterol:Serum
creatinine:Gene expression of TMOD1 in CD4+ lymphocytes:Height:Obesity with
early age of onset (age >2):Advanced age-related macular degeneration
(geographic atrophy):Tetrology of fallot |
|
9 |
103064530 |
1 |
TEX10 |
G |
A |
exonic |
synonymous SNV |
TEX10:NM_001161584:exon15:c.C2685T:p.F895F,TEX10:NM_017746:exon15:c.C2733T:p.F911F |
RS7472 |
Irritible bowel
syndrome:Triglycerides:Gene expression of INVS in CD4+ lymphocytes:Body mass
index (BMI):Gene expression of INVS in blood:Bipolar disorder |
|
9 |
103109070 |
1 |
TEX10 |
T |
C |
exonic |
nonsynonymous SNV |
TEX10:NM_001161584:exon3:c.A808G:p.I270V,TEX10:NM_017746:exon3:c.A799G:p.I267V |
|
9 |
103204577 |
1 |
MSANTD3;MSANTD3-TMEFF1 |
C |
G |
exonic |
synonymous SNV |
MSANTD3-TMEFF1:NM_001198812:exon1:c.C357G:p.L119L,MSANTD3:NM_001198805:exon2:c.C357G:p.L119L,MSANTD3:NM_001198806:exon2:c.C357G:p.L119L,MSANTD3:NM_001198807:exon2:c.C357G:p.L119L,MSANTD3:NM_080655:exon2:c.C357G:p.L119L |
|
9 |
106896809 |
2 |
SMC2 |
G |
A |
exonic |
synonymous SNV |
SMC2:NM_001042550:exon23:c.G3222A:p.L1074L,SMC2:NM_001042551:exon23:c.G3222A:p.L1074L,SMC2:NM_001265602:exon23:c.G3222A:p.L1074L,SMC2:NM_006444:exon23:c.G3222A:p.L1074L |
RS7872034 |
Eye color:Gene expression of SMC2
in T cells:Alzheimer's disease:2 hour glucose:HOMA-B:Neuroblastoma (brain
cancer):Gene expression of SMC2 (probeID ILMN_1748923) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of SMC2 (probeID
ILMN_2411190) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of SMC2 (probeID ILMN_2411190) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of SMC2 (probeID ILMN_2411190) in
cerebellum in non-Alzheimer's disease samples:Gene expression of SMC2
(probeID ILMN_2411190) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SMC2 (probeID ILMN_2411190) in cerebellum in
Alzheimer's disease cases:Gene expression of SMC2 (probeID ILMN_2411190) in
temporal cortex in Alzheimer's disease cases:Gene expression of SMC2 (probeID
ILMN_2411190) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of SMC2 (probeID ILMN_1748923) in cerebellum in Alzheimer's
disease cases and controls |
|
9 |
107515214 |
1 |
NIPSNAP3A |
G |
A |
exonic |
nonsynonymous SNV |
NIPSNAP3A:NM_001329570:exon3:c.G299A:p.R100Q,NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q |
RS2274870 |
LDL cholesterol:HDL cholesterol |
|
9 |
107591272 |
1 |
ABCA1 |
G |
T |
exonic |
synonymous SNV |
ABCA1:NM_005502:exon15:c.C2040A:p.I680I |
RS2853579 |
Cystatin C in
serum:Microalbuminuria:Parkinson's disease:Adiponectin levels:Aortic valve
calcium:Myopia (severe myopia) |
|
9 |
107620867 |
1 |
ABCA1 |
C |
T |
exonic |
nonsynonymous SNV |
ABCA1:NM_005502:exon7:c.G656A:p.R219K |
RS2230806 |
Eye color:Neuroblastoma (brain
cancer):Coronary artery disease (CAD) |
|
9 |
108147763 |
1 |
SLC44A1 |
T |
G |
exonic |
nonsynonymous SNV |
SLC44A1:NM_001286730:exon15:c.T1930G:p.S644A,SLC44A1:NM_001330731:exon15:c.T1930G:p.S644A,SLC44A1:NM_080546:exon15:c.T1930G:p.S644A |
|
9 |
111653574 |
1 |
ELP1 |
C |
G |
exonic |
synonymous SNV |
ELP1:NM_001330749:exon26:c.G2022C:p.L674L,ELP1:NM_001318360:exon28:c.G2727C:p.L909L,ELP1:NM_003640:exon28:c.G3069C:p.L1023L |
RS1063110 |
HDL cholesterol change with
statins:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass
index (BMI):Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Years of education |
|
9 |
111727670 |
1 |
CTNNAL1 |
C |
G |
exonic |
nonsynonymous SNV |
CTNNAL1:NM_001286974:exon11:c.G1579C:p.E527Q,CTNNAL1:NM_003798:exon11:c.G1579C:p.E527Q |
RS7021366 |
Tardive dyskinesia:HOMA-B:Total
cholesterol change with statins:LDL cholesterol change with statins:Gene
expression of AMOTL2 in peripheral blood monocytes:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Waist hip
ratio:Microalbuminuria:Parkinson's disease |
|
9 |
111755008 |
1 |
CTNNAL1 |
C |
T |
exonic |
synonymous SNV |
CTNNAL1:NM_001286974:exon3:c.G423A:p.V141V,CTNNAL1:NM_003798:exon3:c.G423A:p.V141V |
RS2297581 |
HOMA-B:Total cholesterol change
with statins:HDL cholesterol:LDL cholesterol:Total
cholesterol:Triglycerides:Height:Waist hip ratio:Microalbuminuria:Advanced
age-related macular degeneration (geographic atrophy):Parkinson's disease |
|
9 |
111881856 |
1 |
TMEM245 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM245:NM_032012:exon1:c.A338G:p.H113R |
|
9 |
111881927 |
2 |
TMEM245 |
T |
C |
exonic |
synonymous SNV |
TMEM245:NM_032012:exon1:c.A267G:p.L89L |
RS6825 |
Eye color:Differential exon level
expression of C9orf5 [probe 3219683] in brain cortex:HDL cholesterol:Serum
creatinine:Total cholesterol:LDL cholesterol:Microalbuminuria:Gene expression
of CTNNAL1 in blood:Advanced age-related macular degeneration (geographic
atrophy) |
|
9 |
114393784 |
1 |
DNAJC25;DNAJC25-GNG10 |
G |
A |
exonic |
nonsynonymous SNV |
DNAJC25:NM_001015882:exon1:c.G97A:p.V33M,DNAJC25-GNG10:NM_004125:exon1:c.G97A:p.V33M |
|
9 |
114411945 |
1 |
DNAJC25 |
G |
T |
exonic |
synonymous SNV |
DNAJC25:NM_001015882:exon3:c.G702T:p.G234G |
|
9 |
114694486 |
2 |
UGCG |
A |
G |
exonic |
synonymous SNV |
UGCG:NM_003358:exon8:c.A861G:p.T287T |
RS7850023 |
HDL cholesterol:Total
cholesterol:HDL cholesterol:Height:Mitral annular calcium |
|
9 |
114804173 |
1 |
SUSD1 |
G |
A |
exonic |
synonymous SNV |
SUSD1:NM_022486:exon16:c.C2217T:p.L739L |
RS3849117 |
Total cholesterol:Waist hip
ratio:Refractive error |
|
9 |
114982463 |
1 |
PTBP3 |
T |
C |
exonic |
nonsynonymous SNV |
PTBP3:NM_001244897:exon14:c.A1633G:p.T545A |
RS7855745 |
Gene expression of ROD1 [probe
224617_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Waist hip
ratio:Rheumatoid arthritis:Gene expression of ROD1 in blood:Gene expression
of HSDL2 in blood:Gene expression of SUSD1 in blood:PROP taste detection threshold:Aortic
valve calcium:Advanced age-related macular degeneration (geographic
atrophy):Salmonella-induced pyroptosis:Infant head circumference |
|
9 |
114982549 |
1 |
PTBP3 |
C |
T |
exonic |
nonsynonymous SNV |
PTBP3:NM_001244897:exon14:c.G1547A:p.S516N |
RS7869523 |
Gene expression of ROD1 [probe
224617_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression
of HSDL2 in peripheral blood monocytes:Gene expression of ROD1 in peripheral
blood monocytes:Gene expression of SUSD1 in peripheral blood monocytes:Waist
hip ratio:Rheumatoid arthritis:Gene expression of ROD1 in blood:Gene
expression of HSDL2 in blood:Gene expression of SUSD1 in blood:PROP taste
detection threshold:Advanced age-related macular degeneration (geographic
atrophy):College completion:Aortic valve calcium:Infant head circumference |
|
9 |
115567184 |
2 |
SNX30 |
T |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon2:c.T285C:p.V95V |
RS1891402 |
Body mass index (BMI):Obesity (body
mass index (BMI)):Parkinson's disease |
|
9 |
115600848 |
2 |
SNX30 |
T |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon6:c.T885C:p.A295A |
|
9 |
115950706 |
1 |
FKBP15 |
A |
C |
exonic |
nonsynonymous SNV |
FKBP15:NM_015258:exon13:c.T1239G:p.H413Q |
RS10435864 |
Triglycerides:HDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of FKBP15
[probeset 242574_at] in sputum:Age at death with kuru exposure |
|
9 |
115964862 |
1 |
FKBP15 |
G |
A |
exonic |
synonymous SNV |
FKBP15:NM_015258:exon6:c.C447T:p.N149N |
|
9 |
116044998 |
1 |
PRPF4 |
A |
G |
exonic |
synonymous SNV |
PRPF4:NM_001244926:exon4:c.A465G:p.K155K,PRPF4:NM_004697:exon4:c.A468G:p.K156K |
RS11552582 |
Transmission distortion |
|
9 |
116060221 |
1 |
RNF183 |
C |
T |
exonic |
nonsynonymous SNV |
RNF183:NM_145051:exon2:c.G244A:p.A82T |
RS3750533 |
Gene expression of CDC26 in normal
prepouch ileum |
|
9 |
116122954 |
2 |
BSPRY |
A |
G |
exonic |
synonymous SNV |
BSPRY:NM_001317943:exon3:c.A468G:p.K156K,BSPRY:NM_001317944:exon3:c.A468G:p.K156K,BSPRY:NM_017688:exon3:c.A468G:p.K156K |
RS752757 |
Gene expression of CDC26
(ENSG00000176386) in dendritic cells treated with Mycobacterium tuberculosis |
|
9 |
116136198 |
1 |
HDHD3 |
C |
T |
exonic |
nonsynonymous SNV |
HDHD3:NM_001304511:exon2:c.G437A:p.G146E,HDHD3:NM_031219:exon2:c.G437A:p.G146E,HDHD3:NM_001304509:exon3:c.G437A:p.G146E,HDHD3:NM_001304510:exon3:c.G437A:p.G146E |
RS1043836 |
Gene expression of SLC31A2 in
blood:Gene expression of HDHD3 in blood:PROP taste detection threshold:Gene
expression of CDC26 (ENSG00000176386) in dendritic cells:Antidepressant
efficacy in major depressive disorder partial response after 2 weeks of treatment:Gene
expression of HDHD3 (ENSG00000119431) in dendritic cells |
|
9 |
116356529 |
2 |
RGS3 |
C |
G |
exonic |
nonsynonymous SNV |
RGS3:NM_144489:exon1:c.C330G:p.C110W |
|
9 |
116930100 |
1 |
COL27A1 |
G |
A |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.G265A:p.V89I |
RS2567707 |
LDL cholesterol:Cystatin C in
serum:Waist hip ratio:Mitral annular calcium |
|
9 |
116930194 |
1 |
COL27A1 |
A |
G |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.A359G:p.Q120R |
RS2567706 |
Fasting insulin:Cystatin C in
serum:Mitral annular calcium |
|
9 |
116931099 |
1 |
COL27A1 |
G |
A |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.G1264A:p.A422T |
RS2241671 |
Tardive dyskinesia:LDL
cholesterol:Rheumatoid arthritis:Height:Body mass index (BMI):Primary
rhegmatogenous retinal detachment:Parkinson's disease |
|
9 |
116931445 |
1 |
COL27A1 |
T |
C |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.T1610C:p.I537T |
RS2808770 |
Chronic kidney disease:Cystatin C
in serum:Mitral annular calcium:Primary rhegmatogenous retinal detachment |
|
9 |
116931666 |
1 |
COL27A1 |
A |
T |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.A1831T:p.I611F |
RS2567705 |
Chronic kidney disease:Cystatin C in
serum:Mitral annular calcium |
|
9 |
117044751 |
1 |
COL27A1 |
T |
C |
exonic |
synonymous SNV |
COL27A1:NM_032888:exon39:c.T3786C:p.Y1262Y |
|
9 |
117169033 |
2 |
WHRN |
A |
G |
exonic |
nonsynonymous SNV |
WHRN:NM_001346890:exon5:c.T785C:p.M262T,WHRN:NM_001083885:exon9:c.T689C:p.M230T,WHRN:NM_001173425:exon9:c.T1838C:p.M613T,WHRN:NM_015404:exon9:c.T1838C:p.M613T |
RS942519 |
Differential splicing of AKNA
[probeset 3221949] in lymphoblastoid cell lines:Differential exon level
expression of AKNA [probe 3221949] in peripheral blood mononuclear
cells:Alzheimer's disease:Serum creatinine:HDL cholesterol:Total
cholesterol:Chemosensitivity to targeted regimes in metastatic colorectal
cancer (Cetuximab+5-FU/leucovorin+irinotecan regime):Gene expression of ORM2
in blood:Gene expression of AKNA in blood |
|
9 |
117186677 |
2 |
WHRN |
A |
G |
exonic |
synonymous SNV |
WHRN:NM_001346890:exon2:c.T300C:p.G100G,WHRN:NM_001083885:exon6:c.T204C:p.G68G,WHRN:NM_001173425:exon6:c.T1353C:p.G451G,WHRN:NM_015404:exon6:c.T1353C:p.G451G |
RS4979387 |
Chronic kidney disease:Cystatin C in
serum:Serum creatinine:HDL cholesterol:Triglycerides |
|
9 |
117188566 |
2 |
WHRN |
C |
T |
exonic |
nonsynonymous SNV |
WHRN:NM_001173425:exon4:c.G1091A:p.R364H,WHRN:NM_015404:exon4:c.G1091A:p.R364H |
|
9 |
117566782 |
2 |
|
9 |
123170733 |
2 |
CDK5RAP2 |
C |
G |
exonic |
nonsynonymous SNV |
CDK5RAP2:NM_001272039:exon28:c.G3928C:p.V1310L,CDK5RAP2:NM_001011649:exon31:c.G4618C:p.V1540L,CDK5RAP2:NM_018249:exon31:c.G4618C:p.V1540L |
RS4837768 |
Height |
|
9 |
123631561 |
1 |
PHF19 |
G |
A |
exonic |
synonymous SNV |
PHF19:NM_001286840:exon6:c.C570T:p.A190A,PHF19:NM_015651:exon6:c.C513T:p.A171A |
|
9 |
123632045 |
2 |
PHF19 |
A |
G |
exonic |
synonymous SNV |
PHF19:NM_001009936:exon5:c.T543C:p.S181S |
RS1056567 |
Gene expression of EGFL5 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol change with
statins:Rheumatoid arthritis:Methylation levels at chr9:122644335-122644385
[hg18 coord, probe cg21717724] in Caudal pons:Methylation levels at
chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Temporal
cortex:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe
cg21717724] in Cerebellum:Methylation levels at chr9:122644335-122644385
[hg18 coord, probe cg21717724] in Temporal cortex:Methylation levels at
chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Caudal
pons:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe
cg09419670] in Frontal cortex:Methylation levels at chr9:122644335-122644385
[hg18 coord, probe cg21717724] in Frontal cortex:Methylation levels at
chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Cerebellum:Urinary
albumin-to-creatinine ratio:Birth weight:Obesity with early age of onset (age
>2):Gene expression of PSMD5 in normal prepouch ileum |
|
9 |
123769200 |
2 |
C5 |
C |
T |
exonic |
nonsynonymous SNV |
C5:NM_001317163:exon19:c.G2422A:p.V808I,C5:NM_001317164:exon19:c.G2404A:p.V802I,C5:NM_001735:exon19:c.G2404A:p.V802I |
RS17611 |
Differential exon level expression
of C5 [probe 3223804] in peripheral blood mononuclear cells:Gene expression
of C5 [probe 3223776] in peripheral blood mononuclear cells:Rheumatoid
arthritis:Fasting blood glucose:Total cholesterol change with statins:LDL
cholesterol change with statins:Lp-PLA2 activity:Rheumatoid arthritis:Body
mass index (BMI):Gene expression of TRAF1 in blood:Gene expression of PHF19
in blood:Gene expression of C5 in blood:Variant Creutzfeldt-Jakob disease |
|
9 |
123780005 |
2 |
C5 |
G |
A |
exonic |
synonymous SNV |
C5:NM_001317163:exon13:c.C1650T:p.Y550Y,C5:NM_001317164:exon13:c.C1632T:p.Y544Y,C5:NM_001735:exon13:c.C1632T:p.Y544Y |
RS25681 |
Major depressive disorder:Fasting
blood glucose:Total cholesterol change with statins:Rheumatoid arthritis:Gene
expression of GSN in peripheral blood monocytes:Gene expression of C5 in
peripheral blood monocytes:Body mass index (BMI):Pediatric allergic asthma:Maternal
transmission distortion |
|
9 |
124522544 |
1 |
DAB2IP |
G |
A |
exonic |
synonymous SNV |
DAB2IP:NM_138709:exon4:c.G624A:p.A208A,DAB2IP:NM_032552:exon6:c.G912A:p.A304A |
|
9 |
125920376 |
1 |
STRBP |
G |
A |
exonic |
synonymous SNV |
STRBP:NM_001171137:exon11:c.C918T:p.G306G,STRBP:NM_018387:exon11:c.C960T:p.G320G |
RS803736 |
LDL cholesterol:Fasting
insulin:HOMA-IR:Comorbid depressive syndrome and alcohol dependence:Infant
head circumference |
|
9 |
126144746 |
2 |
DENND1A |
T |
C |
exonic |
synonymous SNV |
DENND1A:NM_020946:exon22:c.A1995G:p.G665G |
|
9 |
126144758 |
2 |
DENND1A |
T |
C |
exonic |
synonymous SNV |
DENND1A:NM_020946:exon22:c.A1983G:p.S661S |
|
9 |
127101924 |
2 |
NEK6 |
C |
T |
exonic |
synonymous SNV |
NEK6:NM_001166167:exon8:c.C751T:p.L251L,NEK6:NM_001166168:exon8:c.C697T:p.L233L,NEK6:NM_001166169:exon8:c.C772T:p.L258L,NEK6:NM_001166170:exon8:c.C697T:p.L233L,NEK6:NM_014397:exon8:c.C697T:p.L233L,NEK6:NM_001145001:exon9:c.C799T:p.L267L,NEK6:NM_001166171:exon9:c.C799T:p.L267L |
|
9 |
127674200 |
2 |
GOLGA1 |
A |
C |
exonic |
nonsynonymous SNV |
GOLGA1:NM_002077:exon11:c.T949G:p.L317V |
|
9 |
127915947 |
1 |
PPP6C |
G |
A |
exonic |
synonymous SNV |
PPP6C:NM_001123369:exon5:c.C468T:p.T156T,PPP6C:NM_002721:exon6:c.C534T:p.T178T,PPP6C:NM_001123355:exon7:c.C645T:p.T215T |
RS2271746 |
Salmonella-induced pyroptosis |
|
9 |
127975654 |
1 |
RABEPK |
C |
T |
exonic |
nonsynonymous SNV |
RABEPK:NM_005833:exon4:c.C217T:p.H73Y,RABEPK:NM_001174152:exon5:c.C217T:p.H73Y |
RS16927965 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale:Systolic blood pressure (SBP) |
|
9 |
128074807 |
2 |
GAPVD1 |
T |
C |
exonic |
synonymous SNV |
GAPVD1:NM_001282681:exon6:c.T1518C:p.I506I,GAPVD1:NM_001330778:exon7:c.T1518C:p.I506I,GAPVD1:NM_015635:exon7:c.T1518C:p.I506I,GAPVD1:NM_001330777:exon8:c.T1518C:p.I506I,GAPVD1:NM_001282679:exon9:c.T1518C:p.I506I,GAPVD1:NM_001282680:exon9:c.T1518C:p.I506I |
RS432757 |
Stabilized warfarin dose:Rheumatoid
arthritis:Longstanding arthritis:Arthritis including
non-Rheumatoid:Simpson-Angus Scale:Alzheimer's disease:Gene expression of
HSPA5///RABEPK in blood |
|
9 |
129102840 |
1 |
MVB12B |
G |
A |
exonic |
synonymous SNV |
MVB12B:NM_001011703:exon2:c.G135A:p.T45T,MVB12B:NM_033446:exon2:c.G135A:p.T45T |
RS1888156 |
Hip bone mineral density (BMD):Eye
color:HDL cholesterol:Suicide attempts in bipolar disorder (substance
abuse/dependence):Sporadic Creutzfeldt-Jakob disease:Gene expression of
TMEM209 (probeID ILMN_1748926) in breast tumors |
|
9 |
129595895 |
2 |
ZBTB43 |
T |
C |
exonic |
synonymous SNV |
ZBTB43:NM_001135776:exon2:c.T1107C:p.T369T,ZBTB43:NM_014007:exon3:c.T1107C:p.T369T |
RS3118994 |
Total cholesterol change with
statins:Triglycerides change with statins:Advanced age-related macular
degeneration |
|
9 |
130197414 |
1 |
ZNF79 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF79:NM_001286696:exon3:c.A79G:p.R27G,ZNF79:NM_007135:exon3:c.A151G:p.R51G,ZNF79:NM_001286697:exon4:c.A79G:p.R27G,ZNF79:NM_001322260:exon4:c.A79G:p.R27G |
RS4504745 |
Gene expression of ZNF79 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of RPL12 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SLC2A8 [probe
239426_at] in lymphoblastoid cell lines:Schizophrenia:Simpson-Angus
Scale:Gene expression of SLC2A8 in Frontal cortex:Gene expression of SLC2A8
in Caudal pons:Gene expression of SLC2A8 in Cerebellum:Gene expression of
SLC2A8 in Temporal cortex:Gene expression of ZNF79 in liver:Gene expression
of [probe 6860192 centered at chr9:129253430] in blood:Gene expression of
SLC2A8 in blood:Gene expression of ZNF79 [probeset 216486_x_at] in
sputum:Gene expression of SLC2A8 [probeset 239426_at] in sputum:Gene
expression of ZNF79 [probeset 214138_at] in sputum:Bipolar disorder:Gene
expression of ZNF79 in liver:Gene expression of SLC2A8 (probeID ILMN_1724609)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
SLC2A8 (probeID ILMN_1724609) in temporal cortex in Alzheimer's disease
cases:Refractive error:Gene expression of SLC2A8 (probeID ILMN_1724609) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
SLC2A8 in normal prepouch ileum:Gene expression of SLC2A8 (probeID
ILMN_1724609) in cerebellum in non-Alzheimer's disease samples:Mitral annular
calcium:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in
Alzheimer's disease cases:Obesity with early age of onset (age >2):Gene
expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of SLC2A8 (probeID ILMN_1724609)
in temporal cortex in Alzheimer's disease cases and controls |
|
9 |
130206762 |
1 |
ZNF79 |
C |
T |
exonic |
synonymous SNV |
ZNF79:NM_001286698:exon3:c.C381T:p.N127N,ZNF79:NM_001286696:exon5:c.C711T:p.N237N,ZNF79:NM_007135:exon5:c.C783T:p.N261N,ZNF79:NM_001286697:exon6:c.C711T:p.N237N,ZNF79:NM_001322260:exon6:c.C711T:p.N237N |
RS2248025 |
Rheumatoid arthritis, combined
control dataset, gender differentiated:Gene expression of ZNF79 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SLC2A8 [probe
239426_at] in lymphoblastoid cell lines:Major depressive disorder:Gene
expression of SLC2A8 in Cerebellum:Gene expression of SLC2A8 in Temporal
cortex:Gene expression of SLC2A8 in Frontal cortex:Gene expression of SLC2A8
in Caudal pons:Gene expression of ZNF79 in peripheral blood monocytes:Gene
expression of RPL12 in peripheral blood monocytes:Gene expression of RALGPS1
in peripheral blood monocytes:Gene expression of SLC2A8 in peripheral blood
monocytes:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of SLC2A8 (probeID
ILMN_1724609) in temporal cortex in Alzheimer's disease cases and
controls:Adiponectin levels:Obesity with early age of onset (age >2) |
|
9 |
130242166 |
2 |
LRSAM1 |
A |
G |
exonic |
nonsynonymous SNV |
LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D |
RS1539567 |
Schizophrenia:Gene expression of
SLC2A8 in blood:Gene expression of [probe 6860192 centered at chr9:129253430]
in blood:Comorbid depressive syndrome and alcohol dependence:Refractive
error:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of SLC2A8
(probeID ILMN_1724609) in cerebellum in Alzheimer's disease cases and
controls:College completion |
|
9 |
130494957 |
2 |
TOR2A |
T |
C |
exonic |
nonsynonymous SNV |
TOR2A:NM_001252018:exon3:c.A121G:p.K41E,TOR2A:NM_001252021:exon3:c.A121G:p.K41E,TOR2A:NM_001085347:exon4:c.A607G:p.K203E |
RS538066 |
HOMA-B:Fasting insulin:HOMA-IR:LDL
cholesterol change with statins:Total cholesterol change with
statins:Adiponectin levels |
|
9 |
130565267 |
2 |
FPGS |
A |
G |
exonic |
nonsynonymous SNV |
FPGS:NM_001288803:exon1:c.A64G:p.I22V,FPGS:NM_004957:exon1:c.A64G:p.I22V |
|
9 |
130630639 |
2 |
AK1 |
A |
G |
exonic |
synonymous SNV |
AK1:NM_001318122:exon5:c.T525C:p.P175P,AK1:NM_000476:exon6:c.T477C:p.P159P,AK1:NM_001318121:exon6:c.T477C:p.P159P |
|
9 |
130698029 |
2 |
DPM2 |
G |
C |
exonic |
nonsynonymous SNV |
DPM2:NM_003863:exon4:c.C227G:p.T76S |
RS7997 |
Gene expression of ST6GALNAC4 in
peripheral blood monocytes |
|
9 |
130698043 |
2 |
DPM2 |
A |
G |
exonic |
synonymous SNV |
DPM2:NM_003863:exon4:c.T213C:p.Y71Y |
RS6781 |
Differential exon level expression
of DPM2 [probe 3226241] in brain cortex:Differential exon level expression of
DPM2 [probe 3226241] in peripheral blood mononuclear cells:Gene expression of
DPM2 [probe 209391_at] in prefrontal cortex:Gene expression of SET [probe
40189_at] in prefrontal cortex:Gene expression of CIZ1 [probe 211358_s_at] in
prefrontal cortex:Gene expression of C9orf16 [probe 204480_s_at] in
prefrontal cortex:Gene expression of ST6GALNAC4 in peripheral blood
monocytes:Sporadic Creutzfeldt-Jakob disease |
|
9 |
130707081 |
2 |
FAM102A |
A |
G |
exonic |
synonymous SNV |
FAM102A:NM_203305:exon6:c.T588C:p.D196D,FAM102A:NM_001035254:exon9:c.T1014C:p.D338D |
RS2274426 |
Fasting blood glucose:Obesity with
early age of onset (age >2) |
|
9 |
130829039 |
2 |
NAIF1 |
A |
G |
exonic |
synonymous SNV |
NAIF1:NM_197956:exon1:c.T342C:p.G114G |
|
9 |
130860866 |
2 |
SLC25A25 |
T |
C |
exonic |
synonymous SNV |
SLC25A25:NM_052901:exon1:c.T21C:p.Y7Y |
RS947624 |
Urinary albumin-to-creatinine ratio |
|
9 |
130864676 |
2 |
SLC25A25 |
T |
C |
exonic |
synonymous SNV |
SLC25A25:NM_001006641:exon4:c.T504C:p.I168I,SLC25A25:NM_001006642:exon4:c.T462C:p.I154I,SLC25A25:NM_052901:exon4:c.T402C:p.I134I,SLC25A25:NM_001265614:exon5:c.T498C:p.I166I,SLC25A25:NM_001330988:exon5:c.T540C:p.I180I |
|
9 |
130883511 |
2 |
PTGES2 |
C |
T |
exonic |
synonymous SNV |
PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A,PTGES2:NM_198938:exon8:c.G474A:p.A158A |
|
9 |
131019738 |
1 |
GOLGA2 |
T |
C |
exonic |
nonsynonymous SNV |
GOLGA2:NM_004486:exon25:c.A2704G:p.R902G |
|
9 |
131027963 |
1 |
GOLGA2 |
A |
G |
exonic |
synonymous SNV |
GOLGA2:NM_004486:exon11:c.T753C:p.S251S |
RS12335848 |
LDL cholesterol:Height:Adiponectin
levels |
|
9 |
131085373 |
2 |
COQ4 |
G |
C |
exonic |
nonsynonymous SNV |
COQ4:NM_001305942:exon2:c.G149C:p.G50A,COQ4:NM_016035:exon2:c.G149C:p.G50A |
|
9 |
131285955 |
1 |
GLE1 |
A |
G |
exonic |
nonsynonymous SNV |
GLE1:NM_001003722:exon6:c.A727G:p.I243V,GLE1:NM_001499:exon6:c.A727G:p.I243V |
RS2275260 |
PROP taste detection threshold:Gene
expression of GLE1 in normal prepouch ileum |
|
9 |
131346218 |
2 |
SPTAN1 |
A |
C |
exonic |
synonymous SNV |
SPTAN1:NM_001130438:exon16:c.A2163C:p.A721A,SPTAN1:NM_001195532:exon16:c.A2163C:p.A721A,SPTAN1:NM_003127:exon16:c.A2163C:p.A721A |
|
9 |
131360750 |
2 |
SPTAN1 |
C |
T |
exonic |
synonymous SNV |
SPTAN1:NM_001195532:exon24:c.C3426T:p.L1142L,SPTAN1:NM_001130438:exon25:c.C3486T:p.L1162L,SPTAN1:NM_003127:exon25:c.C3486T:p.L1162L |
|
9 |
131375701 |
2 |
SPTAN1 |
A |
G |
exonic |
synonymous SNV |
SPTAN1:NM_001195532:exon38:c.A5010G:p.L1670L,SPTAN1:NM_003127:exon39:c.A5070G:p.L1690L,SPTAN1:NM_001130438:exon40:c.A5085G:p.L1695L |
|
9 |
131379967 |
2 |
SPTAN1 |
C |
T |
exonic |
synonymous SNV |
SPTAN1:NM_001195532:exon40:c.C5331T:p.T1777T,SPTAN1:NM_003127:exon41:c.C5391T:p.T1797T,SPTAN1:NM_001130438:exon42:c.C5406T:p.T1802T |
RS2227862 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
9 |
131397479 |
2 |
WDR34 |
G |
A |
exonic |
synonymous SNV |
WDR34:NM_052844:exon6:c.C873T:p.T291T |
RS4837291 |
2 hour glucose:HDL cholesterol
change with statins:Triglycerides change with statins |
|
9 |
131398636 |
2 |
WDR34 |
C |
T |
exonic |
synonymous SNV |
WDR34:NM_052844:exon4:c.G627A:p.Q209Q |
RS10760570 |
2 hour glucose:HDL cholesterol
change with statins:Triglycerides change with statins |
|
9 |
131403096 |
2 |
WDR34 |
A |
G |
exonic |
synonymous SNV |
WDR34:NM_052844:exon2:c.T309C:p.Y103Y |
RS2298045 |
HDL cholesterol change with
statins:Triglycerides change with statins |
|
9 |
131483749 |
2 |
ZDHHC12 |
T |
A |
exonic |
nonsynonymous SNV |
ZDHHC12:NM_001318015:exon5:c.A680T:p.Q227L,ZDHHC12:NM_001318020:exon5:c.A493T:p.S165C,ZDHHC12:NM_001318023:exon5:c.A512T:p.Q171L,ZDHHC12:NM_032799:exon5:c.A515T:p.Q172L |
|
9 |
131515547 |
2 |
ZER1 |
G |
T |
exonic |
synonymous SNV |
ZER1:NM_006336:exon4:c.C642A:p.A214A |
RS8507 |
HDL cholesterol change with
statins:Triglycerides:HDL cholesterol:Gene expression of ENDOG (probeID
ILMN_1722309) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ENDOG (probeID ILMN_1722309) in temporal cortex in Alzheimer's
disease cases and controls |
|
9 |
131580998 |
2 |
ENDOG |
C |
T |
exonic |
nonsynonymous SNV |
ENDOG:NM_004435:exon1:c.C35T:p.S12L |
|
9 |
131585069 |
2 |
SPOUT1 |
A |
G |
exonic |
nonsynonymous SNV |
SPOUT1:NM_016390:exon12:c.T1106C:p.I369T |
RS2280843 |
Gene expression of ST6GALNAC4 in T
cells:Triglycerides:Gene expression of ENDOG in CD4+ lymphocytes:Gene
expression of C9orf114///ENDOG in blood:Gene expression of ENDOG in
blood:Gene expression of CCBL1 in blood:Gene expression of C9orf114 [probeset
222674_at] in sputum:Gene expression of ENDOG in liver:Gene expression of
ENDOG (probeID ILMN_1722309) in temporal cortex in Alzheimer's disease cases
and controls:Paternal transmission distortion:Gene expression of PKN3 in
normal prepouch ileum:Transmission distortion:Gene expression of ENDOG
(probeID ILMN_1722309) in cerebellum in Alzheimer's disease cases and
controls |
|
9 |
131670919 |
2 |
LRRC8A |
T |
C |
exonic |
synonymous SNV |
LRRC8A:NM_001127245:exon2:c.T1476C:p.R492R,LRRC8A:NM_001127244:exon3:c.T1476C:p.R492R,LRRC8A:NM_019594:exon3:c.T1476C:p.R492R |
RS3750319 |
Age at death with kuru
exposure:Transmission distortion:Maternal transmission distortion:Gene
expression of CCBL1 (ENSG00000171097) in dendritic cells treated with
Mycobacterium tuberculosis:Refractive error |
|
9 |
131689361 |
1 |
PHYHD1 |
G |
A |
exonic |
synonymous SNV |
PHYHD1:NM_001100877:exon2:c.G78A:p.A26A,PHYHD1:NM_001100876:exon4:c.G78A:p.A26A,PHYHD1:NM_174933:exon4:c.G78A:p.A26A |
RS751340 |
HOMA-IR:Fasting insulin:Recurrent
early onset major depressive disorder (females):Recurrent early onset major
depressive disorder (males):Gene expression of SH3GLB2 in peripheral blood
monocytes:Gene expression of PHYHD1 in liver:Salmonella-induced pyroptosis |
|
9 |
131763938 |
1 |
NUP188 |
G |
A |
exonic |
nonsynonymous SNV |
NUP188:NM_015354:exon35:c.G3974A:p.R1325H |
|
9 |
131767668 |
1 |
NUP188 |
A |
C |
exonic |
synonymous SNV |
NUP188:NM_015354:exon40:c.A4596C:p.S1532S |
RS2287363 |
College
completion:Salmonella-induced pyroptosis |
|
9 |
131771505 |
1 |
SH3GLB2 |
C |
T |
exonic |
synonymous SNV |
SH3GLB2:NM_001287046:exon10:c.G960A:p.P320P,SH3GLB2:NM_020145:exon10:c.G960A:p.P320P,SH3GLB2:NM_001287045:exon12:c.G987A:p.P329P |
|
9 |
131860901 |
2 |
CRAT |
G |
T |
exonic |
nonsynonymous SNV |
CRAT:NM_000755:exon9:c.C1114A:p.L372M,CRAT:NM_001346547:exon9:c.C1114A:p.L372M,CRAT:NM_001346549:exon9:c.C994A:p.L332M,CRAT:NM_001257363:exon10:c.C1051A:p.L351M,CRAT:NM_001346546:exon10:c.C1117A:p.L373M,CRAT:NM_001346548:exon10:c.C1051A:p.L351M,CRAT:NM_004003:exon10:c.C1051A:p.L351M |
|
9 |
131909736 |
1 |
PTPA |
C |
T |
exonic |
nonsynonymous SNV |
PTPA:NM_001271832:exon9:c.C878T:p.S293L,PTPA:NM_178003:exon9:c.C839T:p.S280L,PTPA:NM_001193397:exon10:c.C860T:p.S287L,PTPA:NM_178000:exon10:c.C965T:p.S322L,PTPA:NM_021131:exon11:c.C965T:p.S322L,PTPA:NM_178001:exon11:c.C1070T:p.S357L |
RS2480452 |
Irritible bowel syndrome:Fasting
insulin:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression
of CRAT in blood:Gene expression of [probe 240138 centered at chr9:130972761]
in blood:Gene expression of PPP2R4 in blood:College completion:Tetrology of
fallot |
|
9 |
132402908 |
2 |
ASB6 |
C |
G |
exonic |
synonymous SNV |
ASB6:NM_001202403:exon2:c.G207C:p.V69V,ASB6:NM_017873:exon2:c.G207C:p.V69V,ASB6:NM_177999:exon2:c.G207C:p.V69V |
|
9 |
132580901 |
1 |
TOR1A |
C |
G |
exonic |
nonsynonymous SNV |
TOR1A:NM_000113:exon4:c.G646C:p.D216H |
RS1801968 |
Birth weight:Paternal transmission
distortion |
|
9 |
132623868 |
2 |
USP20 |
T |
C |
exonic |
synonymous SNV |
USP20:NM_001008563:exon8:c.T474C:p.A158A,USP20:NM_001110303:exon8:c.T474C:p.A158A,USP20:NM_006676:exon8:c.T474C:p.A158A |
RS10115249 |
Serum creatinine:Bipolar
disorder:College completion:Birth weight |
|
9 |
132631680 |
2 |
USP20 |
T |
C |
exonic |
synonymous SNV |
USP20:NM_001008563:exon13:c.T1368C:p.L456L,USP20:NM_001110303:exon13:c.T1368C:p.L456L,USP20:NM_006676:exon13:c.T1368C:p.L456L |
RS6478920 |
Serum creatinine:Bipolar
disorder:Birth weight:College completion |
|
9 |
132662786 |
2 |
FNBP1 |
C |
T |
exonic |
nonsynonymous SNV |
FNBP1:NM_015033:exon14:c.G1469A:p.S490N |
RS1023000 |
Birth weight |
|
9 |
132686186 |
2 |
FNBP1 |
A |
G |
exonic |
synonymous SNV |
FNBP1:NM_015033:exon10:c.T1107C:p.H369H |
|
9 |
132838016 |
1 |
GPR107 |
C |
T |
exonic |
synonymous SNV |
GPR107:NM_001136557:exon2:c.C243T:p.D81D,GPR107:NM_001136558:exon2:c.C243T:p.D81D,GPR107:NM_020960:exon2:c.C243T:p.D81D |
|
9 |
133761001 |
1 |
ABL1 |
A |
G |
exonic |
synonymous SNV |
ABL1:NM_005157:exon11:c.A3324G:p.P1108P,ABL1:NM_007313:exon11:c.A3381G:p.P1127P |
|
9 |
134020092 |
2 |
NUP214 |
C |
T |
exonic |
nonsynonymous SNV |
NUP214:NM_001318324:exon12:c.C1720T:p.P574S,NUP214:NM_005085:exon12:c.C1720T:p.P574S |
RS103612 |
Triglycerides:Refractive
error:Adiponectin levels:Years of education:College completion |
|
9 |
134346315 |
2 |
PRRC2B |
T |
C |
exonic |
synonymous SNV |
PRRC2B:NM_013318:exon13:c.T2052C:p.R684R |
RS4310250 |
HDL cholesterol:LDL cholesterol:HDL
cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's
disease cases and controls |
|
9 |
134350323 |
1 |
PRRC2B |
C |
G |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.C2807G:p.T936S |
|
9 |
134350458 |
1 |
PRRC2B |
C |
T |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.C2942T:p.P981L |
RS10751478 |
Body mass index (BMI) |
|
9 |
134350647 |
2 |
PRRC2B |
T |
C |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T |
|
9 |
134351065 |
2 |
PRRC2B |
G |
T |
exonic |
synonymous SNV |
PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G |
RS7858488 |
HDL cholesterol:LDL
cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's
disease cases and controls |
|
9 |
134351343 |
1 |
PRRC2B |
C |
T |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.C3827T:p.A1276V |
RS11243403 |
HDL cholesterol change with
statins:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls |
|
9 |
134351730 |
1 |
PRRC2B |
T |
G |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.T4214G:p.L1405R |
|
9 |
134351770 |
1 |
PRRC2B |
G |
A |
exonic |
synonymous SNV |
PRRC2B:NM_013318:exon15:c.G4254A:p.K1418K |
|
9 |
134386744 |
2 |
POMT1 |
T |
C |
exonic |
synonymous SNV |
POMT1:NM_001136114:exon8:c.T525C:p.T175T,POMT1:NM_001077366:exon9:c.T714C:p.T238T,POMT1:NM_001077365:exon10:c.T876C:p.T292T,POMT1:NM_001136113:exon10:c.T876C:p.T292T,POMT1:NM_007171:exon10:c.T942C:p.T314T |
RS10901065 |
HDL cholesterol:Gene expression of
POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex
in Alzheimer's disease cases and controls:Adiponectin levels |
|
9 |
134387488 |
2 |
POMT1 |
T |
C |
exonic |
synonymous SNV |
POMT1:NM_001136114:exon9:c.T696C:p.D232D,POMT1:NM_001077366:exon10:c.T885C:p.D295D,POMT1:NM_001077365:exon11:c.T1047C:p.D349D,POMT1:NM_001136113:exon11:c.T1047C:p.D349D,POMT1:NM_007171:exon11:c.T1113C:p.D371D |
RS3739494 |
Differential exon level expression
of POMT1 [probe 3192197] in brain cortex:Differential exon level expression
of UCK1 [probe 3227651] in brain cortex:HOMA-IR:HDL cholesterol:Variant
Creutzfeldt-Jakob disease:Years of education:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's
disease cases and controls:Adiponectin levels |
|
9 |
135202829 |
2 |
SETX |
T |
C |
exonic |
nonsynonymous SNV |
SETX:NM_001351527:exon10:c.A4156G:p.I1386V,SETX:NM_001351528:exon10:c.A4156G:p.I1386V,SETX:NM_015046:exon10:c.A4156G:p.I1386V |
RS543573 |
Irritible bowel
syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Advanced
age-related macular degeneration:Salmonella-induced pyroptosis:Paternal
transmission distortion |
|
9 |
135203231 |
2 |
SETX |
C |
T |
exonic |
nonsynonymous SNV |
SETX:NM_001351527:exon10:c.G3754A:p.G1252R,SETX:NM_001351528:exon10:c.G3754A:p.G1252R,SETX:NM_015046:exon10:c.G3754A:p.G1252R |
RS1183768 |
Irritible bowel
syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Advanced
age-related macular degeneration:Paternal transmission distortion |
|
9 |
135203409 |
2 |
SETX |
A |
C |
exonic |
nonsynonymous SNV |
SETX:NM_001351527:exon10:c.T3576G:p.D1192E,SETX:NM_001351528:exon10:c.T3576G:p.D1192E,SETX:NM_015046:exon10:c.T3576G:p.D1192E |
RS1185193 |
Irritible bowel
syndrome:Longstanding arthritis:Arthritis including
non-Rheumatoid:Triglycerides:Chronic kidney disease:Serum creatinine:Gene
expression of SETX in blood:Transmission distortion:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Paternal transmission distortion |
|
9 |
135206460 |
2 |
SETX |
A |
G |
exonic |
synonymous SNV |
SETX:NM_001351527:exon9:c.T1077C:p.Y359Y,SETX:NM_001351528:exon9:c.T1077C:p.Y359Y,SETX:NM_015046:exon9:c.T1077C:p.Y359Y |
RS9411449 |
Triglycerides:Serum
creatinine:Chronic kidney disease:Paternal transmission distortion:Advanced
age-related macular degeneration:Transmission distortion |
|
9 |
135263573 |
2 |
TTF1 |
G |
T |
exonic |
synonymous SNV |
TTF1:NM_001205296:exon7:c.C720A:p.I240I,TTF1:NM_007344:exon8:c.C2265A:p.I755I |
RS556386 |
Tardive dyskinesia |
|
9 |
135273607 |
2 |
TTF1 |
C |
G |
exonic |
synonymous SNV |
TTF1:NM_001205296:exon3:c.G153C:p.L51L,TTF1:NM_007344:exon4:c.G1698C:p.L566L |
RS504525 |
Triglycerides:Childhood acute
lymphoblastic leukemia:LDL cholesterol:Total cholesterol:LDL
cholesterol:Total cholesterol:Diastolic blood pressure (DBP):Parkinson's
disease |
|
9 |
135470414 |
2 |
DDX31 |
T |
C |
exonic |
nonsynonymous SNV |
DDX31:NM_001322340:exon18:c.A2176G:p.I726V,DDX31:NM_001322342:exon20:c.A1864G:p.I622V,DDX31:NM_001322343:exon20:c.A2008G:p.I670V,DDX31:NM_022779:exon20:c.A2395G:p.I799V,DDX31:NM_001322341:exon21:c.A2107G:p.I703V |
RS306547 |
Barnes Akathisia Rating Scale:Major
depressive disorder (narrow definition) (females):Major depressive disorder
(narrow definition):2 hour glucose:HOMA-IR:Fasting blood glucose:Fasting
insulin:Recurrent early onset major depressive disorder:Recurrent early onset
major depressive disorder (females):Total cholesterol:Bipolar
disorder:Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Aortic valve calcium:Gene
expression of C9orf171 in normal prepouch ileum |
|
9 |
135521303 |
1 |
DDX31 |
C |
T |
exonic |
synonymous SNV |
DDX31:NM_001322340:exon13:c.G1674A:p.L558L,DDX31:NM_001322342:exon13:c.G1143A:p.L381L,DDX31:NM_001322343:exon13:c.G1287A:p.L429L,DDX31:NM_022779:exon13:c.G1674A:p.L558L,DDX31:NM_138620:exon13:c.G1674A:p.L558L,DDX31:NM_001322341:exon14:c.G1386A:p.L462L |
RS306537 |
Rheumatoid arthritis:Years of
education:College completion |
|
9 |
135554566 |
1 |
GTF3C4 |
G |
A |
exonic |
synonymous SNV |
GTF3C4:NM_012204:exon2:c.G1560A:p.E520E |
RS371169 |
Gene expression of GTF3C4 [probe
219198_at] in lymphoblastoid cell lines:Methylation levels at
chr9:134534077-134534127 [hg18 coord, probe cg09986574] in Temporal
cortex:LDL cholesterol:Microalbuminuria:Gene expression of GTF3C4 (probeID
ILMN_1733964) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of GTF3C4 (probeID ILMN_1733964) in cerebellum in
Alzheimer's disease cases and controls |
|
9 |
135974079 |
2 |
RALGDS |
G |
C |
exonic |
synonymous SNV |
RALGDS:NM_001042368:exon18:c.C2475G:p.L825L,RALGDS:NM_001271774:exon18:c.C2553G:p.L851L,RALGDS:NM_001271775:exon18:c.C2637G:p.L879L,RALGDS:NM_001271776:exon18:c.C2604G:p.L868L,RALGDS:NM_006266:exon18:c.C2640G:p.L880L |
RS1062356 |
HOMA-IR:Total cholesterol:HDL
cholesterol:HDL cholesterol change with statins:Height |
|
9 |
135974100 |
2 |
RALGDS |
G |
A |
exonic |
synonymous SNV |
RALGDS:NM_001042368:exon18:c.C2454T:p.T818T,RALGDS:NM_001271774:exon18:c.C2532T:p.T844T,RALGDS:NM_001271775:exon18:c.C2616T:p.T872T,RALGDS:NM_001271776:exon18:c.C2583T:p.T861T,RALGDS:NM_006266:exon18:c.C2619T:p.T873T |
RS886017 |
HDL cholesterol:Triglycerides
change with statins:Microalbuminuria:Gene expression of TSC1 [transcript
NM_000368, probe A_24_P329635] in liver:Systolic blood pressure
(SBP):Comorbid depressive syndrome and alcohol dependence:Crohn's
disease:Psoriasis and Crohn's disease combined:Psoriasis:Refractive error |
|
9 |
135976940 |
1 |
RALGDS |
G |
A |
exonic |
synonymous SNV |
RALGDS:NM_001042368:exon16:c.C2256T:p.D752D,RALGDS:NM_001271774:exon16:c.C2334T:p.D778D,RALGDS:NM_001271775:exon16:c.C2418T:p.D806D,RALGDS:NM_001271776:exon16:c.C2385T:p.D795D,RALGDS:NM_006266:exon16:c.C2421T:p.D807D |
|
9 |
135985796 |
1 |
RALGDS |
C |
T |
exonic |
synonymous SNV |
RALGDS:NM_001042368:exon3:c.G210A:p.V70V,RALGDS:NM_001271774:exon3:c.G324A:p.V108V,RALGDS:NM_001271775:exon3:c.G372A:p.V124V,RALGDS:NM_001271776:exon3:c.G375A:p.V125V,RALGDS:NM_006266:exon3:c.G375A:p.V125V |
RS3761824 |
Mitral annular calcium:Refractive
error:College completion:Years of education |
|
9 |
136199466 |
1 |
SURF6 |
G |
A |
exonic |
nonsynonymous SNV |
SURF6:NM_001278942:exon4:c.C523T:p.R175W,SURF6:NM_006753:exon4:c.C524T:p.T175M |
RS886089 |
Parkinson's disease (PD):Gene
expression of SURF1 in CHB lymphoblastoid cell lines |
|
9 |
136199503 |
1 |
SURF6 |
G |
A |
exonic |
nonsynonymous SNV |
SURF6:NM_006753:exon4:c.C487T:p.R163W |
RS886090 |
Parkinson's disease (PD):Gene
expression of SURF1 in CHB lymphoblastoid cell lines:Gene expression of
Hs.495422 in CEU lymphoblastoid cell lines:Gene expression of SURF6 in
liver:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour
glucose:Gene expression of SURF6 in Caudal pons:Gene expression of SURF6 in
Cerebellum:Gene expression of SURF1 in Caudal pons:Gene expression of SURF6
in Frontal cortex:Triglycerides:HDL cholesterol:Gene expression of SURF6 in
CD4+ lymphocytes:Gene expression of SURF6 [probe ILMN_29359] in untreated
osteoblasts:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts
treated with BMP2:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts
treated with dexamethasone:Gene expression of SURF6 [probe ILMN_29359] in
osteoblasts treated with PGE2:Gene expression of SURF1 in blood:Gene
expression of [probe 4860689 centered at chr9:135198369] in blood:Gene
expression of SURF6 in blood:Gene expression of MED22 in blood:Gene
expression of SURF1 in normal prepouch ileum:Obesity with early age of onset
(age >2):Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of SURF6 in normal
prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in temporal
cortex in Alzheimer's disease cases and controls |
|
9 |
136227260 |
1 |
SURF2 |
A |
G |
exonic |
nonsynonymous SNV |
SURF2:NM_001278928:exon5:c.A637G:p.S213G,SURF2:NM_017503:exon5:c.A637G:p.S213G |
RS12763 |
Gene expression of SURF1 in CEU
lymphoblastoid cell lines:Gene expression of SURF5 in blood cells in Celiac
disease:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour
glucose:Fasting insulin:HOMA-IR:Gene expression of SURF1 in Caudal pons:Gene
expression of SURF6 in Cerebellum:Gene expression of SURF1 in Frontal
cortex:Gene expression of SURF6 in Frontal cortex:Triglycerides:Total
cholesterol:Gene expression of SURF6 in CD4+ lymphocytes:Gene expression of
SURF4 [transcript NM_033161, probe A_23_P32052] in liver:Gene expression of
SURF1 in blood:Gene expression of SURF6 in blood:Gene expression of [probe
4860689 centered at chr9:135198369] in blood:Gene expression of MED22 in
blood:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in
Alzheimer's disease cases:Gene expression of SURF1 (probeID ILMN_1663407) in
temporal cortex in Progressive Supranuclear Palsy cases:Obesity with early
age of onset (age >2):Gene expression of SURF1 (probeID ILMN_1663407) in
cerebellum in non-Alzheimer's disease samples:Gene expression of SURF6 in
normal prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in
cerebellum in Alzheimer's disease cases:Gene expression of SURF1 (probeID
ILMN_1663407) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of SURF1 (probeID
ILMN_1663407) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of SURF1 in normal prepouch ileum |
|
9 |
136277480 |
1 |
REXO4 |
A |
G |
exonic |
synonymous SNV |
REXO4:NM_001279350:exon4:c.T438C:p.T146T,REXO4:NM_001279351:exon4:c.T570C:p.T190T,REXO4:NM_020385:exon4:c.T849C:p.T283T |
|
9 |
136328657 |
1 |
CACFD1 |
T |
C |
exonic |
synonymous SNV |
CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I |
RS3124765 |
Alkaline phosphatase
(ALP):Childhood acute lymphoblastic leukemia:Lp-PLA2 activity:Lp-PLA2
mass:Gene expression of SURF6 in peripheral blood monocytes:Gene expression
of MED22 in peripheral blood monocytes:Gene expression of SURF1 in peripheral
blood monocytes:Total cholesterol:LDL cholesterol:Height:Coronary artery
disease (CAD):Activated partial thromboplastin time:Venous
thromboembolism:Mitral annular calcium |
|
9 |
136338580 |
1 |
SLC2A6 |
G |
A |
exonic |
synonymous SNV |
SLC2A6:NM_017585:exon8:c.C1179T:p.Y393Y |
|
9 |
136340200 |
1 |
SLC2A6 |
T |
G |
exonic |
synonymous SNV |
SLC2A6:NM_001145099:exon6:c.A810C:p.P270P,SLC2A6:NM_017585:exon6:c.A810C:p.P270P |
RS2073935 |
Serum soluble E-selectin |
|
9 |
136412236 |
2 |
ADAMTSL2 |
A |
T |
exonic |
synonymous SNV |
ADAMTSL2:NM_001145320:exon9:c.A840T:p.A280A,ADAMTSL2:NM_014694:exon9:c.A840T:p.A280A |
|
9 |
136412255 |
2 |
ADAMTSL2 |
A |
C |
exonic |
synonymous SNV |
ADAMTSL2:NM_001145320:exon9:c.A859C:p.R287R,ADAMTSL2:NM_014694:exon9:c.A859C:p.R287R |
|
9 |
136536679 |
1 |
SARDH |
G |
A |
exonic |
synonymous SNV |
SARDH:NM_001134707:exon18:c.C2304T:p.I768I,SARDH:NM_007101:exon18:c.C2304T:p.I768I |
RS129932 |
LDL cholesterol change with
statins:HDL cholesterol change with statins:Obesity with early age of onset
(age >2) |
|
9 |
136536793 |
1 |
SARDH |
C |
G |
exonic |
synonymous SNV |
SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V |
RS2519123 |
LDL cholesterol change with
statins:HDL cholesterol change with statins:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
9 |
136599146 |
1 |
SARDH |
C |
T |
exonic |
synonymous SNV |
SARDH:NM_001134707:exon2:c.G150A:p.Q50Q,SARDH:NM_007101:exon2:c.G150A:p.Q50Q |
RS573904 |
Total cholesterol change with
statins:Triglycerides |
|
9 |
136633606 |
1 |
VAV2 |
G |
A |
exonic |
synonymous SNV |
VAV2:NM_003371:exon26:c.C2430T:p.I810I,VAV2:NM_001134398:exon29:c.C2547T:p.I849I |
RS9722384 |
Fasting blood glucose |
|
9 |
136643994 |
1 |
VAV2 |
T |
C |
exonic |
nonsynonymous SNV |
VAV2:NM_003371:exon20:c.A1750G:p.M584V,VAV2:NM_001134398:exon22:c.A1780G:p.M594V |
RS602990 |
Triglycerides:HOMA-B:HDL
cholesterol change with statins:LDL cholesterol:Triglycerides change with
statins:Neuroblastoma (brain cancer):Information processing speed (Symbol
search):Microalbuminuria |
|
9 |
136907005 |
1 |
BRD3 |
G |
A |
exonic |
synonymous SNV |
BRD3:NM_007371:exon8:c.C1284T:p.P428P |
|
9 |
136913355 |
1 |
BRD3 |
T |
C |
exonic |
synonymous SNV |
BRD3:NM_007371:exon6:c.A936G:p.L312L |
RS464826 |
Triglycerides change with
statins:Obesity with early age of onset (age >2):Gene expression of BRD3
in normal prepouch ileum |
|
9 |
138376649 |
2 |
PPP1R26 |
T |
C |
exonic |
nonsynonymous SNV |
PPP1R26:NM_014811:exon4:c.T293C:p.V98A |
RS3748192 |
HDL cholesterol |
|
9 |
138376972 |
2 |
PPP1R26 |
A |
G |
exonic |
nonsynonymous SNV |
PPP1R26:NM_014811:exon4:c.A616G:p.K206E |
|
9 |
138377433 |
1 |
PPP1R26 |
G |
A |
exonic |
synonymous SNV |
PPP1R26:NM_014811:exon4:c.G1077A:p.A359A |
|
9 |
138377657 |
2 |
PPP1R26 |
T |
C |
exonic |
nonsynonymous SNV |
PPP1R26:NM_014811:exon4:c.T1301C:p.M434T |
|
9 |
138377853 |
2 |
PPP1R26 |
A |
G |
exonic |
synonymous SNV |
PPP1R26:NM_014811:exon4:c.A1497G:p.V499V |
RS2004074 |
HDL cholesterol |
|
9 |
138378856 |
2 |
PPP1R26 |
A |
G |
exonic |
nonsynonymous SNV |
PPP1R26:NM_014811:exon4:c.A2500G:p.N834D |
RS2078266 |
Serum creatinine |
|
9 |
138379002 |
2 |
PPP1R26 |
T |
G |
exonic |
synonymous SNV |
PPP1R26:NM_014811:exon4:c.T2646G:p.P882P |
|
9 |
138379059 |
1 |
PPP1R26 |
G |
T |
exonic |
synonymous SNV |
PPP1R26:NM_014811:exon4:c.G2703T:p.L901L |
|
9 |
138838140 |
2 |
UBAC1 |
T |
C |
exonic |
synonymous SNV |
UBAC1:NM_016172:exon5:c.A519G:p.A173A |
|
9 |
138903671 |
2 |
NACC2 |
A |
G |
exonic |
synonymous SNV |
NACC2:NM_144653:exon6:c.T1455C:p.P485P |
|
9 |
139100805 |
1 |
QSOX2 |
T |
C |
exonic |
synonymous SNV |
QSOX2:NM_181701:exon12:c.A1866G:p.P622P |
|
9 |
139252495 |
1 |
GPSM1 |
G |
A |
exonic |
synonymous SNV |
GPSM1:NM_001145639:exon4:c.G324A:p.P108P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145638:exon14:c.G1851A:p.P617P |
RS3812547 |
Microalbuminuria:Gene expression of
CARD9 [transcript NM_052813, probe A_23_P500433] in liver |
|
9 |
139256468 |
1 |
DNLZ |
C |
G |
exonic |
nonsynonymous SNV |
DNLZ:NM_001080849:exon3:c.G533C:p.S178T |
RS3812552 |
Height |
|
9 |
139256541 |
1 |
DNLZ |
C |
T |
exonic |
nonsynonymous SNV |
DNLZ:NM_001080849:exon3:c.G460A:p.A154T |
|
9 |
139266405 |
2 |
CARD9 |
G |
A |
exonic |
synonymous SNV |
CARD9:NM_052813:exon2:c.C126T:p.P42P,CARD9:NM_052814:exon2:c.C126T:p.P42P |
RS10781499 |
Gene expression of CARD9 [probe
220162_s_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of INPP5E in
Frontal cortex:Gene expression of INPP5E in Cerebellum:Gene expression of
INPP5E in Caudal pons:Gene expression of INPP5E in Temporal cortex:Height:Ulcerative
colitis:Crohn's disease:Ulcerative colitis (Surgical intervention):Urinary
albumin-to-creatinine ratio:Gene expression of LOC162632 in normal prepouch
ileum:Gene expression of NRIP2 in normal prepouch ileum:Gene expression of
RGS7 in normal prepouch ileum:Gene expression of CREB3L3 in normal prepouch
ileum:Gene expression of PDZRN3 in normal prepouch ileum:Gene expression of
CRISP2 in normal prepouch ileum:Gene expression of HMGA2 in normal prepouch
ileum:Gene expression of CELF1 in normal prepouch ileum:Gene expression of
NR2F6 in normal prepouch ileum:Gene expression of C11orf61 in normal prepouch
ileum:Gene expression of HAX1 in normal prepouch ileum:Gene expression of
PRSS3 in normal prepouch ileum:Gene expression of MIR10B in normal prepouch
ileum:Gene expression of FLJ41649 in normal prepouch ileum:Gene expression of
STGC3 in normal prepouch ileum:Gene expression of PLCL1 in normal prepouch
ileum:Gene expression of PTCH1 in normal prepouch ileum:Gene expression of
LGALS14 in normal prepouch ileum:Gene expression of KRT24 in normal prepouch
ileum:Gene expression of ANKRD20B in normal prepouch ileum:Gene expression of
UBXN7 in normal prepouch ileum:Gene expression of ADAMTSL1 in normal prepouch
ileum:Gene expression of C20orf54 in normal prepouch ileum:Gene expression of
SNAPC4 in normal prepouch ileum:Gene expression of C2orf67 in normal prepouch
ileum:Gene expression of SPARCL1 in normal prepouch ileum:Gene expression of
MPZL2 in normal prepouch ileum:Gene expression of SPDYE1 in normal prepouch
ileum:Gene expression of KDM5B in normal prepouch ileum:Gene expression of
CCK in normal prepouch ileum:Gene expression of MYOF in normal prepouch
ileum:Gene expression of CD200 in normal prepouch ileum:Gene expression of
CLCA1 in normal prepouch ileum:Gene expression of GNG11 in normal prepouch
ileum:Gene expression of KIF14 in normal prepouch ileum:Gene expression of
HOXB6 in normal prepouch ileum:Inflammatory bowel disease:Gene expression of
C22orf43 in normal prepouch ileum:Gene expression of INPP5E (probeID
ILMN_1811301) in cerebellum in non-Alzheimer's disease samples:Gene
expression of CA11 in normal prepouch ileum:Gene expression of GYPE in normal
prepouch ileum:Gene expression of ZNF114 in normal prepouch ileum:Gene
expression of BTN3A2 in normal prepouch ileum:Gene expression of ITLN1 in
normal prepouch ileum:Gene expression of KLHL36 in normal prepouch ileum:Gene
expression of DAOA in normal prepouch ileum:Gene expression of KGFLP1 in
normal prepouch ileum:Gene expression of SQRDL in normal prepouch ileum:Gene
expression of ZAK in normal prepouch ileum:Gene expression of DHDPSL in
normal prepouch ileum:Gene expression of OR2M3 in normal prepouch ileum:Gene
expression of OR8K3 in normal prepouch ileum:Gene expression of CD34 in
normal prepouch ileum:Gene expression of KIAA1328 in normal prepouch
ileum:Gene expression of EXOC4 in normal prepouch ileum:Gene expression of
CHD6 in normal prepouch ileum:Gene expression of OR1J2 in normal prepouch
ileum:Gene expression of CIDEC in normal prepouch ileum:Gene expression of
CNTN5 in normal prepouch ileum:Gene expression of LGI3 in normal prepouch
ileum:Gene expression of SLC27A4 in normal prepouch ileum:Gene expression of
RFX3 in normal prepouch ileum:Gene expression of CLMN in normal prepouch
ileum:Gene expression of C4BPA in normal prepouch ileum:Gene expression of
LEPR in normal prepouch ileum:Gene expression of GSTM3 in normal prepouch
ileum:Gene expression of TARBP1 in normal prepouch ileum:Gene expression of
LOC100129345 in normal prepouch ileum:Gene expression of CYP4B1 in normal
prepouch ileum:Gene expression of LYG2 in normal prepouch ileum:Gene
expression of EMILIN1 in normal prepouch ileum:Gene expression of AGPAT2 in
normal prepouch ileum:Gene expression of EVC2 in normal prepouch ileum:Gene
expression of LDHAL6A in normal prepouch ileum:Gene expression of OR6B3 in
normal prepouch ileum:Gene expression of ZNF16 in normal prepouch ileum:Gene
expression of SDCCAG3 in normal prepouch ileum:Gene expression of ANKRD33 in
normal prepouch ileum:Gene expression of OR8B2 in normal prepouch ileum:Gene
expression of LIMCH1 in normal prepouch ileum:Gene expression of SULT2A1 in
normal prepouch ileum:Gene expression of HOXB3 in normal prepouch ileum:Gene
expression of NLGN1 in normal prepouch ileum:Gene expression of PPP1R9A in
normal prepouch ileum:Gene expression of MYBPC2 in normal prepouch ileum:Gene
expression of TCL6 in normal prepouch ileum:Gene expression of AKNAD1 in
normal prepouch ileum:Gene expression of TMEM63C in normal prepouch
ileum:Gene expression of FSHB in normal prepouch ileum:Gene expression of
JMJD5 in normal prepouch ileum:Gene expression of MFSD2A in normal prepouch
ileum:Gene expression of NBPF14 in normal prepouch ileum:Gene expression of
NOL12 in normal prepouch ileum:Primary sclerosing cholangitis:Gene expression
of MTSS1 in normal prepouch ileum:Gene expression of KRT75 in normal prepouch
ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of USP17L2 in normal
prepouch ileum:Gene expression of GOLT1A in normal prepouch ileum:Gene
expression of YPEL2 in normal prepouch ileum:Gene expression of GDF5 in
normal prepouch ileum:Gene expression of EPM2A in normal prepouch ileum:Gene
expression of CCZ1 in normal prepouch ileum:Gene expression of HOXB8 in
normal prepouch ileum:Gene expression of ELOVL2 in normal prepouch ileum:Gene
expression of UNC5D in normal prepouch ileum:Gene expression of BPIL2 in
normal prepouch ileum:Gene expression of GNMT in normal prepouch ileum:Gene
expression of PAR4 in normal prepouch ileum:Gene expression of ABTB2 in
normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of AIM1L
in normal prepouch ileum:Gene expression of STARD13 in normal prepouch
ileum:Gene expression of KCNJ1 in normal prepouch ileum:Gene expression of
RTP3 in normal prepouch ileum:Gene expression of KLKP1 in normal prepouch
ileum:Gene expression of HSD17B2 in normal prepouch ileum:Gene expression of
HOXB5 in normal prepouch ileum:Gene expression of SAMD12 in normal prepouch
ileum:Gene expression of HOXB4 in normal prepouch ileum:Gene expression of
INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases:Gene
expression of KRT39 in normal prepouch ileum:Gene expression of DNAJC18 in
normal prepouch ileum:Gene expression of PRUNE2 in normal prepouch ileum:Gene
expression of GPR135 in normal prepouch ileum:Gene expression of RPL34 in
normal prepouch ileum:Gene expression of PYGO1 in normal prepouch ileum:Gene
expression of ENPP2 in normal prepouch ileum:Gene expression of OR2B3 in
normal prepouch ileum:Gene expression of TEK in normal prepouch ileum:Gene
expression of OR10A4 in normal prepouch ileum:Gene expression of MIR136 in
normal prepouch ileum:Gene expression of FNIP2 in normal prepouch ileum:Gene
expression of GPR149 in normal prepouch ileum:Gene expression of AVPR1A in
normal prepouch ileum:Gene expression of FLJ10661 in normal prepouch
ileum:Gene expression of MIR26A2 in normal prepouch ileum:Gene expression of
KCNIP4 in normal prepouch ileum:Gene expression of MFSD5 in normal prepouch
ileum:Gene expression of PBX2 in normal prepouch ileum:Gene expression of FER
in normal prepouch ileum:Gene expression of ALMS1P in normal prepouch
ileum:Gene expression of FLJ45964 in normal prepouch ileum:Gene expression of
IFNW1 in normal prepouch ileum:Gene expression of GK2 in normal prepouch
ileum:Gene expression of MIR516B1 in normal prepouch ileum:Gene expression of
A2LD1 in normal prepouch ileum:Gene expression of NBPF16 in normal prepouch
ileum:Gene expression of SMOC1 in normal prepouch ileum:Gene expression of
SYN3 in normal prepouch ileum:Gene expression of DIXDC1 in normal prepouch
ileum:Gene expression of GJA8 in normal prepouch ileum:Gene expression of
PMFBP1 in normal prepouch ileum:Gene expression of FZD4 in normal prepouch
ileum:Gene expression of SERPINB13 in normal prepouch ileum:Gene expression
of C6orf208 in normal prepouch ileum:Gene expression of PDE5A in normal
prepouch ileum:Gene expression of MIR205 in normal prepouch ileum:Gene
expression of PDE4D in normal prepouch ileum:Gene expression of FILIP1 in
normal prepouch ileum:Gene expression of OR8G5 in normal prepouch ileum:Gene
expression of POR in normal prepouch ileum:Gene expression of C14orf79 in
normal prepouch ileum:Gene expression of CCDC46 in normal prepouch ileum:Gene
expression of CACNB1 in normal prepouch ileum:Gene expression of KGFLP2 in
normal prepouch ileum:Gene expression of PTF1A in normal prepouch ileum:Gene
expression of INPP5E (probeID ILMN_1811301) in temporal cortex in
non-Alzheimer's disease samples:Gene expression of PLEKHG3 in normal prepouch
ileum:Gene expression of PSG9 in normal prepouch ileum:Gene expression of
NBPF15 in normal prepouch ileum:Gene expression of FZD6 in normal prepouch
ileum:Gene expression of NBPF11 in normal prepouch ileum:Gene expression of
CAV1 in normal prepouch ileum:Gene expression of DLL1 in normal prepouch
ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in
Alzheimer's disease cases:Gene expression of FAM138B in normal prepouch
ileum:Gene expression of AGA in normal prepouch ileum:Gene expression of GLS2
in normal prepouch ileum:Gene expression of DEPDC4 in normal prepouch
ileum:Gene expression of SUSD1 in normal prepouch ileum:Gene expression of
C10orf93 in normal prepouch ileum:Gene expression of SIGLEC1 in normal
prepouch ileum |
|
9 |
139266496 |
2 |
CARD9 |
C |
T |
exonic |
nonsynonymous SNV |
CARD9:NM_052813:exon2:c.G35A:p.S12N,CARD9:NM_052814:exon2:c.G35A:p.S12N |
RS4077515 |
Gene expression of CARD9 [probe
220162_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene
expression of INPP5E in blood cells in Celiac disease:Differential exon level
expression of PMPCA [probe 3194372] in brain cortex:Gene expression of CARD9
in Lymphoblastoid cell lines:Gene expression of INPP5E [probe ILMN_11866] in
osteoblasts:Ulcerative colitis:Gene expression of INPP5E in Frontal
cortex:Gene expression of INPP5E in Temporal cortex:Gene expression of INPP5E
in Caudal pons:Gene expression of INPP5E in Cerebellum:Height:Crohn's
disease:Crohn's disease:Ulcerative colitis:Urinary albumin-to-creatinine
ratio:Gene expression of SNAPC4 in blood:Gene expression of C9orf151///CARD9
in blood:Gene expression of INPP5E in blood:Gene expression of INPP5E///SEC16A
in blood:Gene expression of SDCCAG3 in blood:Gene expression of INPP5E
(probeID ILMN_1811301) in temporal cortex in non-Alzheimer's disease
samples:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex
in Progressive Supranuclear Palsy cases:Primary sclerosing cholangitis:Gene
expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's
disease cases:Gene expression of INPP5E (probeID ILMN_1811301) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of INPP5E
(probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases and
controls:Hypertension (early onset hypertension):Gene expression of SDCCAG3
in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in
cerebellum in Alzheimer's disease cases:Gene expression of INPP5E (probeID
ILMN_1811301) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of INPP5E (probeID ILMN_1811301) in cerebellum in non-Alzheimer's
disease samples |
|
9 |
139272058 |
2 |
SNAPC4 |
A |
G |
exonic |
synonymous SNV |
SNAPC4:NM_003086:exon21:c.T4221C:p.S1407S |
RS10781507 |
Simpson-Angus Scale:Fasting blood
glucose:LDL cholesterol:Gene expression of INPP5E in Frontal cortex:Gene
expression of INPP5E in Temporal cortex:Gene expression of INPP5E in Caudal
pons:Gene expression of INPP5E in Cerebellum:Triglycerides:Height:Urinary
albumin-to-creatinine ratio:Gene expression of INPP5E (probeID ILMN_1811301)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
SDCCAG3 in normal prepouch ileum:Gene expression of INPP5E (probeID
ILMN_1811301) in temporal cortex in Alzheimer's disease cases and controls |
|
9 |
139273288 |
2 |
SNAPC4 |
C |
T |
exonic |
synonymous SNV |
SNAPC4:NM_003086:exon21:c.G2991A:p.E997E |
RS3829112 |
Gene expression of LOC206962 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LOC401560 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Autism:Bipolar disorder:Gene
expression of SNAPC4 (ENSG00000165684) in dendritic cells treated with Mycobacterium
tuberculosis |
|
9 |
139298580 |
2 |
SDCCAG3 |
C |
T |
exonic |
nonsynonymous SNV |
SDCCAG3:NM_001039708:exon7:c.G916A:p.V306M,SDCCAG3:NM_006643:exon8:c.G1066A:p.V356M,SDCCAG3:NM_001039707:exon9:c.G1135A:p.V379M |
|
9 |
139298593 |
2 |
SDCCAG3 |
A |
G |
exonic |
synonymous SNV |
SDCCAG3:NM_001039708:exon7:c.T903C:p.G301G,SDCCAG3:NM_006643:exon8:c.T1053C:p.G351G,SDCCAG3:NM_001039707:exon9:c.T1122C:p.G374G |
|
9 |
139299637 |
2 |
SDCCAG3 |
C |
T |
exonic |
nonsynonymous SNV |
SDCCAG3:NM_001039708:exon5:c.G692A:p.R231Q,SDCCAG3:NM_006643:exon6:c.G842A:p.R281Q,SDCCAG3:NM_001039707:exon7:c.G911A:p.R304Q |
RS3812577 |
Irritible bowel
syndrome:Differential exon level expression of SDCCAG3 [probe 3229956] in
brain cortex:Differential exon level expression of SDCCAG3 [probe 3229956] in
peripheral blood mononuclear cells:Tardive dyskinesia:Abnormal Involuntary
Movement Scale:Gene expression of INPP5E in CD4+ lymphocytes:Height:Gene
expression of INPP5E in blood:Gene expression of GPSM1 in blood:Gene
expression of C9orf151///CARD9 in blood:Gene expression of INPP5E///SEC16A in
blood:Bipolar disorder:Gene expression of INPP5E (probeID ILMN_1811301) in
cerebellum in Alzheimer's disease cases and controls |
|
9 |
139306467 |
2 |
PMPCA |
C |
T |
exonic |
synonymous SNV |
PMPCA:NM_015160:exon2:c.C90T:p.Y30Y |
RS10870144 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Gene expression of INPP5E in blood
cells in Celiac disease:Gene expression of INPP5E in CD4+
lymphocytes:Height:Gene expression of INPP5E///SEC16A in blood:Gene
expression of INPP5E in blood:Gene expression of C9orf151///CARD9 in
blood:Gene expression change of SEC16A (ENSG00000148396) in dendritic cells
after treatment with Mycobacterium tuberculosis:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
9 |
139324740 |
2 |
INPP5E |
C |
T |
exonic |
synonymous SNV |
INPP5E:NM_001318502:exon9:c.G1788A:p.P596P,INPP5E:NM_019892:exon9:c.G1791A:p.P597P |
|
9 |
139326304 |
2 |
INPP5E |
G |
A |
exonic |
synonymous SNV |
INPP5E:NM_001318502:exon7:c.C1518T:p.H506H,INPP5E:NM_019892:exon7:c.C1521T:p.H507H |
|
9 |
139328551 |
2 |
INPP5E |
T |
C |
exonic |
synonymous SNV |
INPP5E:NM_001318502:exon3:c.A972G:p.P324P,INPP5E:NM_019892:exon3:c.A972G:p.P324P |
|
9 |
139371234 |
2 |
SEC16A |
G |
A |
exonic |
synonymous SNV |
SEC16A:NM_001276418:exon2:c.C834T:p.D278D,SEC16A:NM_014866:exon3:c.C834T:p.D278D |
RS10781497 |
Rheumatoid arthritis:Height:Gene
expression change of INPP5E (ENSG00000148384) in dendritic cells after
treatment with Mycobacterium tuberculosis |
|
9 |
139694521 |
1 |
CCDC183 |
T |
G |
exonic |
nonsynonymous SNV |
CCDC183:NM_001039374:exon4:c.T338G:p.L113R |
RS4546744 |
Differential exon level expression
of MAMDC4 [probe 3194836] in brain cortex:Rheumatoid
arthritis:Height:Carboplatin-induced cytotoxicity in treatment of ovarian
cancer as measured by carboplatin IC50:Gene expression of PHPT1 in blood:Gene
expression of LCN8 in blood:Sporadic Creutzfeldt-Jakob disease:Gene
expression of TRAF2 (ENSG00000127191) in dendritic cells |
|
9 |
139694569 |
1 |
CCDC183 |
A |
C |
exonic |
nonsynonymous SNV |
CCDC183:NM_001039374:exon4:c.A386C:p.D129A |
RS7859194 |
Rheumatoid
arthritis:Carboplatin-induced cytotoxicity in treatment of ovarian cancer as
measured by carboplatin IC50:Infant head circumference |
|
9 |
139700605 |
2 |
CCDC183 |
T |
C |
exonic |
nonsynonymous SNV |
CCDC183:NM_001039374:exon10:c.T1024C:p.W342R |
RS2811795 |
Irritible bowel syndrome:Gene
expression of FAM69B [probe 3194567] in brain cortex:Differential exon level
expression of FAM69B [probe 3194577] in brain cortex:Gene expression of LCN8
in blood:Gene expression of PHPT1 in blood:Sporadic Creutzfeldt-Jakob disease:Infant
head circumference:Parkinson's disease |
|
9 |
139701108 |
2 |
CCDC183 |
A |
C |
exonic |
nonsynonymous SNV |
CCDC183:NM_001039374:exon11:c.A1262C:p.N421T |
RS2254143 |
Irritible bowel syndrome:Gene
expression of PHPT1 in peripheral blood monocytes:Gene expression of C9orf86
(ENSG00000196642) in dendritic cells:Parkinson's disease:Infant head
circumference |
|
9 |
139726239 |
1 |
RABL6 |
A |
G |
exonic |
synonymous SNV |
RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G |
|
9 |
139731969 |
2 |
RABL6 |
C |
T |
exonic |
synonymous SNV |
RABL6:NM_001173988:exon9:c.C984T:p.A328A,RABL6:NM_024718:exon9:c.C981T:p.A327A |
|
9 |
139732331 |
2 |
RABL6 |
G |
C |
exonic |
nonsynonymous SNV |
RABL6:NM_001173988:exon10:c.G1147C:p.E383Q,RABL6:NM_024718:exon10:c.G1144C:p.E382Q |
|
9 |
139732462 |
1 |
RABL6 |
C |
T |
exonic |
synonymous SNV |
RABL6:NM_001173988:exon10:c.C1278T:p.S426S,RABL6:NM_024718:exon10:c.C1275T:p.S425S |
RS2811740 |
Diastolic blood pressure (DBP) |
|
9 |
139749067 |
2 |
MAMDC4 |
C |
T |
exonic |
synonymous SNV |
MAMDC4:NM_206920:exon8:c.C873T:p.R291R |
RS7869864 |
Cystatin C in serum:Serum
creatinine:Gene expression of KIAA1984 (ENSG00000213213) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression change of FBXW5
(ENSG00000159069) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
9 |
139848688 |
2 |
LCN12 |
C |
T |
exonic |
synonymous SNV |
LCN12:NM_178536:exon5:c.C531T:p.I177I |
RS4880175 |
Plasma beta-trace protein levels |
|
9 |
139904037 |
1 |
ABCA2 |
A |
G |
exonic |
synonymous SNV |
ABCA2:NM_001606:exon44:c.T6690C:p.L2230L,ABCA2:NM_212533:exon44:c.T6780C:p.L2260L |
RS7048567 |
LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of PTGDS in
blood:Gene expression of C9orf142///CLIC3 in blood:Gene expression of NPDC1
in blood:Gene expression of DPP7 in blood:Gene expression of MAN1B1 in
blood:Gene expression of UAP1L1 in blood:Gene expression of PHPT1 in
blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Birth
weight:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of C9orf142 (probeID
ILMN_1761138) in cerebellum in non-Alzheimer's disease samples:Gene
expression of C9orf142 (probeID ILMN_1761138) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C9orf142 (probeID ILMN_1761138)
in temporal cortex in Alzheimer's disease cases:Gene expression of C9orf142
(probeID ILMN_1761138) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of C9orf142 (probeID ILMN_1761138) in cerebellum in
Alzheimer's disease cases:Gene expression of C9orf142 (probeID ILMN_1761138)
in cerebellum in Progressive Supranuclear Palsy cases |
|
9 |
139905141 |
1 |
ABCA2 |
G |
A |
exonic |
synonymous SNV |
ABCA2:NM_001606:exon40:c.C6105T:p.A2035A,ABCA2:NM_212533:exon40:c.C6195T:p.A2065A |
|
9 |
139912484 |
2 |
ABCA2 |
A |
G |
exonic |
synonymous SNV |
ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D |
|
9 |
139913239 |
2 |
ABCA2 |
T |
G |
exonic |
nonsynonymous SNV |
ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P |
|
9 |
139943112 |
1 |
ENTPD2 |
A |
G |
exonic |
synonymous SNV |
ENTPD2:NM_001246:exon9:c.T1416C:p.I472I,ENTPD2:NM_203468:exon9:c.T1485C:p.I495I |
RS17853460 |
Nonsyndromic striae distensae
(stretch marks) |
|
9 |
139973820 |
1 |
UAP1L1 |
C |
T |
exonic |
nonsynonymous SNV |
UAP1L1:NM_207309:exon5:c.C956T:p.A319V |
RS7037849 |
Gene expression of LOC401495 in
CHB-JPT lymphoblastoid cell lines:Gene expression of AK023312 in liver:HDL
cholesterol:Partial epilepsy:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of UAP1L1 in blood:Gene expression of
MAN1B1 in blood |
|
9 |
139975195 |
1 |
UAP1L1 |
C |
T |
exonic |
synonymous SNV |
UAP1L1:NM_207309:exon7:c.C1233T:p.N411N |
|
9 |
139981627 |
2 |
MAN1B1 |
A |
G |
exonic |
nonsynonymous SNV |
MAN1B1:NM_016219:exon1:c.A176G:p.N59S |
|
9 |
140002989 |
1 |
MAN1B1 |
T |
C |
exonic |
synonymous SNV |
MAN1B1:NM_016219:exon13:c.T2046C:p.D682D |
|
9 |
140006425 |
1 |
DPP7 |
C |
G |
exonic |
synonymous SNV |
DPP7:NM_013379:exon10:c.G1107C:p.P369P |
|
9 |
140120396 |
2 |
CYSRT1 |
C |
T |
exonic |
nonsynonymous SNV |
CYSRT1:NM_199001:exon2:c.C443T:p.A148V |
|
9 |
140130606 |
2 |
SLC34A3 |
A |
T |
exonic |
nonsynonymous SNV |
SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V |
|
9 |
140150413 |
1 |
NELFB |
C |
T |
exonic |
synonymous SNV |
NELFB:NM_015456:exon2:c.C301T:p.L101L |
|
9 |
140167022 |
1 |
NELFB |
G |
A |
exonic |
synonymous SNV |
NELFB:NM_015456:exon12:c.G1695A:p.P565P |
|
9 |
140356422 |
2 |
PNPLA7 |
G |
C |
exonic |
synonymous SNV |
PNPLA7:NM_152286:exon31:c.C3642G:p.L1214L,PNPLA7:NM_001098537:exon32:c.C3717G:p.L1239L |
|
9 |
140611436 |
1 |
EHMT1 |
T |
C |
exonic |
synonymous SNV |
EHMT1:NM_001145527:exon3:c.T444C:p.P148P,EHMT1:NM_024757:exon3:c.T444C:p.P148P |
RS3812497 |
Lp-PLA2
activity:Triglycerides:Height |
|
9 |
140638416 |
1 |
EHMT1 |
G |
A |
exonic |
synonymous SNV |
EHMT1:NM_001145527:exon6:c.G1044A:p.S348S,EHMT1:NM_024757:exon6:c.G1044A:p.S348S |
RS1129767 |
Triglycerides:Refractive error |
|
9 |
140638461 |
1 |
EHMT1 |
T |
C |
exonic |
synonymous SNV |
EHMT1:NM_001145527:exon6:c.T1089C:p.G363G,EHMT1:NM_024757:exon6:c.T1089C:p.G363G |
|
10 |
93394 |
2 |
TUBB8 |
G |
A |
exonic |
nonsynonymous SNV |
TUBB8:NM_177987:exon4:c.C938T:p.A313V |
|
10 |
93407 |
2 |
TUBB8 |
G |
A |
exonic |
nonsynonymous SNV |
TUBB8:NM_177987:exon4:c.C925T:p.R309C |
|
10 |
294953 |
2 |
ZMYND11 |
A |
G |
exonic |
synonymous SNV |
ZMYND11:NM_001202465:exon12:c.A1356G:p.E452E,ZMYND11:NM_001202467:exon12:c.A1449G:p.E483E,ZMYND11:NM_001202464:exon13:c.A1449G:p.E483E,ZMYND11:NM_001202466:exon13:c.A1446G:p.E482E,ZMYND11:NM_001202468:exon13:c.A1611G:p.E537E,ZMYND11:NM_006624:exon14:c.A1611G:p.E537E,ZMYND11:NM_212479:exon14:c.A1608G:p.E536E,ZMYND11:NM_001330057:exon15:c.A1560G:p.E520E |
RS1017361 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol change with statins:Comorbid depressive
syndrome and alcohol dependence:Parkinson's disease:Infant head
circumference:Adiponectin levels |
|
10 |
3143643 |
2 |
PFKP |
A |
C |
exonic |
synonymous SNV |
PFKP:NM_001323067:exon4:c.A270C:p.R90R,PFKP:NM_001323068:exon4:c.A351C:p.R117R,PFKP:NM_001345944:exon4:c.A237C:p.R79R,PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001323071:exon5:c.A237C:p.R79R,PFKP:NM_001323072:exon5:c.A237C:p.R79R,PFKP:NM_001242339:exon6:c.A327C:p.R109R |
|
10 |
3155620 |
2 |
PFKP |
A |
G |
exonic |
synonymous SNV |
PFKP:NM_001323070:exon8:c.A633G:p.A211A,PFKP:NM_001323074:exon8:c.A633G:p.A211A,PFKP:NM_001323073:exon9:c.A633G:p.A211A,PFKP:NM_001323067:exon13:c.A1200G:p.A400A,PFKP:NM_001323068:exon13:c.A1281G:p.A427A,PFKP:NM_001323069:exon13:c.A774G:p.A258A,PFKP:NM_001345944:exon13:c.A1167G:p.A389A,PFKP:NM_002627:exon13:c.A1281G:p.A427A,PFKP:NM_001323071:exon14:c.A1167G:p.A389A,PFKP:NM_001323072:exon14:c.A1167G:p.A389A,PFKP:NM_001242339:exon15:c.A1257G:p.A419A |
RS1052309 |
LDL cholesterol:Adiponectin levels |
|
10 |
3172121 |
2 |
PFKP |
C |
T |
exonic |
synonymous SNV |
PFKP:NM_001323070:exon11:c.C993T:p.A331A,PFKP:NM_001323074:exon12:c.C1146T:p.A382A,PFKP:NM_001323073:exon13:c.C1146T:p.A382A,PFKP:NM_001323068:exon16:c.C1641T:p.A547A,PFKP:NM_001323067:exon17:c.C1713T:p.A571A,PFKP:NM_001323069:exon17:c.C1287T:p.A429A,PFKP:NM_001345944:exon17:c.C1680T:p.A560A,PFKP:NM_002627:exon17:c.C1794T:p.A598A,PFKP:NM_001323071:exon18:c.C1680T:p.A560A,PFKP:NM_001323072:exon18:c.C1680T:p.A560A,PFKP:NM_001242339:exon19:c.C1770T:p.A590A |
RS1052333 |
Parkinson's disease:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
10 |
3180227 |
1 |
PITRM1 |
T |
C |
exonic |
nonsynonymous SNV |
PITRM1:NM_001242309:exon24:c.A2816G:p.Q939R,PITRM1:NM_001347725:exon25:c.A2912G:p.Q971R,PITRM1:NM_001347726:exon25:c.A2297G:p.Q766R,PITRM1:NM_001347730:exon25:c.A2888G:p.Q963R,PITRM1:NM_001242307:exon27:c.A3113G:p.Q1038R,PITRM1:NM_001347727:exon27:c.A2495G:p.Q832R,PITRM1:NM_001347728:exon27:c.A1805G:p.Q602R,PITRM1:NM_001347729:exon27:c.A3086G:p.Q1029R,PITRM1:NM_014889:exon27:c.A3110G:p.Q1037R |
RS6901 |
Triglycerides change with statins |
|
10 |
3181126 |
1 |
PITRM1 |
C |
T |
exonic |
nonsynonymous SNV |
PITRM1:NM_001242309:exon22:c.G2593A:p.V865I,PITRM1:NM_001347725:exon23:c.G2689A:p.V897I,PITRM1:NM_001347726:exon23:c.G2074A:p.V692I,PITRM1:NM_001347730:exon23:c.G2665A:p.V889I,PITRM1:NM_001242307:exon25:c.G2890A:p.V964I,PITRM1:NM_001347727:exon25:c.G2272A:p.V758I,PITRM1:NM_001347728:exon25:c.G1582A:p.V528I,PITRM1:NM_001347729:exon25:c.G2863A:p.V955I,PITRM1:NM_014889:exon25:c.G2887A:p.V963I |
|
10 |
3189380 |
1 |
PITRM1 |
C |
T |
exonic |
synonymous SNV |
PITRM1:NM_001242309:exon17:c.G2004A:p.P668P,PITRM1:NM_001347725:exon18:c.G2100A:p.P700P,PITRM1:NM_001347726:exon18:c.G1485A:p.P495P,PITRM1:NM_001347730:exon18:c.G2076A:p.P692P,PITRM1:NM_001242307:exon20:c.G2301A:p.P767P,PITRM1:NM_001347727:exon20:c.G1683A:p.P561P,PITRM1:NM_001347728:exon20:c.G993A:p.P331P,PITRM1:NM_001347729:exon20:c.G2274A:p.P758P,PITRM1:NM_014889:exon20:c.G2298A:p.P766P |
RS3740607 |
Differential exon level expression
of PITRM1 [probe 3274192] in brain cortex:Differential exon level expression
of PITRM1 [probe 3274192] in peripheral blood mononuclear cells:Triglycerides
change with statins:HDL cholesterol change with statins:Partial epilepsy:Gene
expression of PFKP in blood:Gene expression of PFKP///PITRM1 in blood:Mitral
annular calcium |
|
10 |
3200292 |
1 |
PITRM1 |
G |
A |
exonic |
nonsynonymous SNV |
PITRM1:NM_001242309:exon10:c.C1094T:p.A365V,PITRM1:NM_001242307:exon11:c.C1190T:p.A397V,PITRM1:NM_001347725:exon11:c.C1190T:p.A397V,PITRM1:NM_001347726:exon11:c.C575T:p.A192V,PITRM1:NM_001347727:exon11:c.C575T:p.A192V,PITRM1:NM_001347729:exon11:c.C1166T:p.A389V,PITRM1:NM_001347730:exon11:c.C1166T:p.A389V,PITRM1:NM_014889:exon11:c.C1190T:p.A397V |
RS3182535 |
Alzheimer's disease:Gene expression
of PFKP///PITRM1 in blood |
|
10 |
3202065 |
1 |
PITRM1 |
T |
C |
exonic |
nonsynonymous SNV |
PITRM1:NM_001242309:exon8:c.A886G:p.I296V,PITRM1:NM_001242307:exon9:c.A982G:p.I328V,PITRM1:NM_001347725:exon9:c.A982G:p.I328V,PITRM1:NM_001347726:exon9:c.A367G:p.I123V,PITRM1:NM_001347727:exon9:c.A367G:p.I123V,PITRM1:NM_001347729:exon9:c.A958G:p.I320V,PITRM1:NM_001347730:exon9:c.A958G:p.I320V,PITRM1:NM_014889:exon9:c.A982G:p.I328V |
RS4242746 |
Differential exon level expression
of PITRM1 [probe 3274179] in brain cortex:Differential exon level expression
of PITRM1 [probe 3274216] in brain cortex:Gene expression of PITRM1 [probe
3274173] in brain cortex:Alzheimer's disease:Childhood acute lymphoblastic
leukemia:Gene expression of PITRM1 in peripheral blood monocytes:Gene
expression of PFKP///PITRM1 in blood:Bipolar disorder in
alcoholics:Transmission distortion:Gene expression of PITRM1
(ENSG00000107959) in dendritic cells |
|
10 |
3206027 |
1 |
PITRM1 |
A |
G |
exonic |
synonymous SNV |
PITRM1:NM_001242309:exon6:c.T585C:p.P195P,PITRM1:NM_001242307:exon7:c.T681C:p.P227P,PITRM1:NM_001347725:exon7:c.T681C:p.P227P,PITRM1:NM_001347726:exon7:c.T66C:p.P22P,PITRM1:NM_001347727:exon7:c.T66C:p.P22P,PITRM1:NM_001347729:exon7:c.T657C:p.P219P,PITRM1:NM_001347730:exon7:c.T657C:p.P219P,PITRM1:NM_014889:exon7:c.T681C:p.P227P |
RS4609511 |
Advanced age-related macular
degeneration |
|
10 |
3208557 |
1 |
PITRM1 |
A |
G |
exonic |
synonymous SNV |
PITRM1:NM_001242309:exon3:c.T186C:p.T62T,PITRM1:NM_001242307:exon4:c.T282C:p.T94T,PITRM1:NM_001347725:exon4:c.T282C:p.T94T,PITRM1:NM_001347729:exon4:c.T258C:p.T86T,PITRM1:NM_001347730:exon4:c.T258C:p.T86T,PITRM1:NM_014889:exon4:c.T282C:p.T94T |
|
10 |
5043821 |
1 |
AKR1C2 |
A |
T |
exonic |
nonsynonymous SNV |
AKR1C2:NM_001135241:exon2:c.T137A:p.F46Y,AKR1C2:NM_001321027:exon2:c.T137A:p.F46Y,AKR1C2:NM_205845:exon3:c.T137A:p.F46Y,AKR1C2:NM_001354:exon4:c.T137A:p.F46Y |
RS2854482 |
Birth weight |
|
10 |
5136651 |
1 |
AKR1C3 |
C |
G |
exonic |
nonsynonymous SNV |
AKR1C3:NM_001253909:exon1:c.C15G:p.H5Q,AKR1C3:NM_003739:exon1:c.C15G:p.H5Q |
RS12529 |
Simpson-Angus Scale:2 hour
glucose:LDL cholesterol change with statins:Total cholesterol change with
statins:Triglycerides:Years of education:College completion |
|
10 |
5138607 |
1 |
AKR1C3 |
G |
A |
exonic |
synonymous SNV |
AKR1C3:NM_001253908:exon2:c.G90A:p.P30P,AKR1C3:NM_001253909:exon2:c.G90A:p.P30P,AKR1C3:NM_003739:exon2:c.G90A:p.P30P |
RS7741 |
Gene expression of SH3BP5 in
peripheral blood monocytes:LDL cholesterol:Total cholesterol:Coronary artery
disease (CAD):PROP taste detection threshold:Birth weight |
|
10 |
5139685 |
2 |
AKR1C3 |
G |
A |
exonic |
synonymous SNV |
AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K |
RS12387 |
Triglycerides:Total
cholesterol:Total cholesterol:LDL
cholesterol:Triglycerides:Height:Susceptibility to cytomegalovirus
infection:Obesity with early age of onset (age >2):Birth weight:College
completion |
|
10 |
5255025 |
2 |
AKR1C4 |
A |
G |
exonic |
nonsynonymous SNV |
AKR1C4:NM_001818:exon7:c.A749G:p.Q250R |
|
10 |
5781628 |
1 |
FAM208B |
T |
G |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon13:c.T1252G:p.C418G,FAM208B:NM_017782:exon13:c.T1495G:p.C499G,FAM208B:NM_001321783:exon14:c.T1495G:p.C499G,FAM208B:NM_001321784:exon14:c.T1495G:p.C499G |
RS2254067 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:Longstanding
arthritis:Triglycerides:Differential exon level expression of C10orf18 [probe
3233383] in brain cortex:Differential exon level expression of C10orf18
[probe 3233383] in peripheral blood mononuclear cells:2 hour glucose:Urinary
albumin-to-creatinine ratio:Adiponectin levels:Transmission
distortion:College completion |
|
10 |
5784151 |
1 |
FAM208B |
A |
G |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon14:c.A2176G:p.I726V,FAM208B:NM_017782:exon14:c.A2419G:p.I807V,FAM208B:NM_001321783:exon15:c.A2419G:p.I807V,FAM208B:NM_001321784:exon15:c.A2419G:p.I807V |
|
10 |
5790420 |
2 |
FAM208B |
T |
C |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon15:c.T4793C:p.V1598A,FAM208B:NM_017782:exon15:c.T5036C:p.V1679A,FAM208B:NM_001321783:exon16:c.T5036C:p.V1679A,FAM208B:NM_001321784:exon16:c.T5036C:p.V1679A |
|
10 |
5791578 |
1 |
FAM208B |
G |
T |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon15:c.G5951T:p.S1984I,FAM208B:NM_017782:exon15:c.G6194T:p.S2065I,FAM208B:NM_001321783:exon16:c.G6194T:p.S2065I,FAM208B:NM_001321784:exon16:c.G6194T:p.S2065I |
|
10 |
5808086 |
1 |
GDI2 |
G |
A |
exonic |
synonymous SNV |
GDI2:NM_001115156:exon10:c.C1086T:p.T362T,GDI2:NM_001494:exon11:c.C1221T:p.T407T |
RS1129614 |
Gene expression of GDI2 [probe
200009_at] in lymphoblastoid cell lines:Irritible bowel syndrome:HDL
cholesterol:Triglycerides:Differential exon level expression of GDI2 [probe
3275143] in peripheral blood mononuclear cells:Differential exon level
expression of GDI2 [probe 3275147] in peripheral blood mononuclear
cells:Differential exon level expression of GDI2 [probe 3275143] in brain
cortex:Chronic kidney disease:HDL cholesterol:LDL
cholesterol:Triglycerides:Gene expression of ASB13 in blood:Gene expression
of C10orf18///GDI2 in blood:Sporadic Creutzfeldt-Jakob disease:Gene
expression of GDI2 in normal prepouch ileum |
|
10 |
5920121 |
2 |
ANKRD16 |
T |
C |
exonic |
nonsynonymous SNV |
ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R |
RS1052420 |
LDL cholesterol:Schizophrenia:HDL
cholesterol:LDL cholesterol:Lp-PLA2 activity:Microalbuminuria:Gene expression
of FBXO18 in blood:Gene expression of ANKRD16 (probeID ILMN_1659156) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
ANKRD16 (probeID ILMN_1659156) in temporal cortex in Alzheimer's disease
cases and controls |
|
10 |
5925971 |
2 |
ANKRD16 |
C |
A |
exonic |
synonymous SNV |
ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_019046:exon4:c.G648T:p.G216G |
|
10 |
7605101 |
2 |
ITIH5 |
A |
G |
exonic |
nonsynonymous SNV |
ITIH5:NM_032817:exon10:c.T2132C:p.F711S,ITIH5:NM_030569:exon14:c.T2774C:p.F925S |
|
10 |
7618501 |
1 |
ITIH5 |
A |
G |
exonic |
synonymous SNV |
ITIH5:NM_032817:exon6:c.T1251C:p.D417D,ITIH5:NM_001001851:exon10:c.T1893C:p.D631D,ITIH5:NM_030569:exon10:c.T1893C:p.D631D |
RS2275068 |
Rheumatoid arthritis |
|
10 |
7759595 |
1 |
ITIH2 |
C |
T |
exonic |
synonymous SNV |
ITIH2:NM_002216:exon6:c.C474T:p.S158S |
|
10 |
7763661 |
2 |
ITIH2 |
A |
G |
exonic |
nonsynonymous SNV |
ITIH2:NM_002216:exon8:c.A788G:p.N263S |
|
10 |
8006798 |
2 |
TAF3 |
A |
G |
exonic |
nonsynonymous SNV |
TAF3:NM_031923:exon3:c.A1325G:p.N442S |
RS4747647 |
Barnes Akathisia Rating
Scale:Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Neuroblastoma
(brain cancer):Birth weight |
|
10 |
8007559 |
2 |
TAF3 |
G |
C |
exonic |
nonsynonymous SNV |
TAF3:NM_031923:exon3:c.G2086C:p.V696L |
RS10795583 |
Cystatin C in serum:Rheumatoid
arthritis:Birth weight |
|
10 |
8007560 |
2 |
TAF3 |
T |
C |
exonic |
nonsynonymous SNV |
TAF3:NM_031923:exon3:c.T2087C:p.V696A |
RS1244229 |
Eye color:Rheumatoid
arthritis:Urinary albumin-to-creatinine ratio |
|
10 |
11912144 |
1 |
PROSER2 |
C |
T |
exonic |
synonymous SNV |
PROSER2:NM_153256:exon4:c.C1047T:p.H349H |
|
10 |
11912332 |
1 |
PROSER2 |
C |
T |
exonic |
nonsynonymous SNV |
PROSER2:NM_153256:exon4:c.C1235T:p.A412V |
|
10 |
12071397 |
1 |
UPF2 |
G |
A |
exonic |
synonymous SNV |
UPF2:NM_015542:exon3:c.C492T:p.L164L,UPF2:NM_080599:exon3:c.C492T:p.L164L |
|
10 |
12111090 |
2 |
DHTKD1 |
T |
C |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon1:c.T58C:p.F20L |
|
10 |
12148259 |
2 |
DHTKD1 |
A |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.A1911C:p.P637P |
|
10 |
12148286 |
2 |
DHTKD1 |
T |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.T1938C:p.F646F |
|
10 |
12149939 |
2 |
DHTKD1 |
C |
T |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon12:c.C2079T:p.I693I |
RS1722462 |
LDL cholesterol:Total
cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education |
|
10 |
12209752 |
1 |
NUDT5 |
T |
C |
exonic |
synonymous SNV |
NUDT5:NM_001321647:exon9:c.A600G:p.A200A,NUDT5:NM_014142:exon10:c.A609G:p.A203A,NUDT5:NM_001321648:exon11:c.A351G:p.A117A |
RS6686 |
Gene expression of SEC61A2 [probe
219499_at] in lymphoblastoid cell lines:Triglycerides:HDL
cholesterol:Systolic blood pressure (SBP):Advanced age-related macular
degeneration (geographic atrophy) |
|
10 |
13166076 |
2 |
OPTN |
A |
G |
exonic |
nonsynonymous SNV |
OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E |
|
10 |
13230950 |
1 |
MCM10 |
C |
T |
exonic |
synonymous SNV |
MCM10:NM_018518:exon10:c.C1285T:p.L429L,MCM10:NM_182751:exon10:c.C1288T:p.L430L |
RS2296222 |
Salmonella-induced
pyroptosis:Adiponectin levels |
|
10 |
13336485 |
1 |
PHYH |
C |
T |
exonic |
synonymous SNV |
PHYH:NM_001037537:exon3:c.G57A:p.T19T,PHYH:NM_001323084:exon3:c.G57A:p.T19T,PHYH:NM_001323080:exon4:c.G57A:p.T19T,PHYH:NM_001323082:exon4:c.G357A:p.T119T,PHYH:NM_001323083:exon4:c.G357A:p.T119T,PHYH:NM_006214:exon4:c.G357A:p.T119T |
|
10 |
13337588 |
2 |
PHYH |
G |
A |
exonic |
synonymous SNV |
PHYH:NM_001323082:exon3:c.C153T:p.N51N,PHYH:NM_001323083:exon3:c.C153T:p.N51N,PHYH:NM_006214:exon3:c.C153T:p.N51N |
|
10 |
13375906 |
2 |
SEPHS1 |
T |
C |
exonic |
synonymous SNV |
SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T |
RS10752297 |
LDL cholesterol:Triglycerides:LDL
cholesterol:IGP72:IGP64:IGP70:Gene expression of PHYH (probeID ILMN_2282352)
in temporal cortex in Alzheimer's disease cases and
controls:IGP71:IGP68:IGP66:Gene expression of PHYH (probeID ILMN_2282352) in
cerebellum in Alzheimer's disease cases and controls:IGP49 |
|
10 |
13534851 |
2 |
BEND7 |
A |
G |
exonic |
synonymous SNV |
BEND7:NM_001100912:exon4:c.T480C:p.P160P,BEND7:NM_152751:exon5:c.T441C:p.P147P |
RS2251555 |
Total cholesterol change with
statins:LDL cholesterol change with statins:HDL cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of UCMA in normal prepouch
ileum:Hypertension (early onset hypertension):Gene expression change of BEND7
(ENSG00000165626) in dendritic cells after treatment with Mycobacterium
tuberculosis:Refractive error |
|
10 |
17636309 |
1 |
HACD1 |
G |
A |
exonic |
nonsynonymous SNV |
HACD1:NM_014241:exon6:c.C679T:p.H227Y |
RS1053926 |
HOMA-IR:Fasting insulin:Total
cholesterol change with statins |
|
10 |
17659131 |
2 |
HACD1 |
C |
A |
exonic |
nonsynonymous SNV |
HACD1:NM_014241:exon1:c.G208T:p.V70F |
|
10 |
17659149 |
2 |
HACD1 |
C |
T |
exonic |
nonsynonymous SNV |
HACD1:NM_014241:exon1:c.G190A:p.E64K |
|
10 |
21827796 |
1 |
MLLT10 |
G |
A |
exonic |
synonymous SNV |
MLLT10:NM_001195626:exon2:c.G195A:p.P65P,MLLT10:NM_001195627:exon3:c.G195A:p.P65P,MLLT10:NM_001195628:exon3:c.G195A:p.P65P,MLLT10:NM_001195630:exon3:c.G195A:p.P65P,MLLT10:NM_001324296:exon3:c.G195A:p.P65P,MLLT10:NM_004641:exon3:c.G195A:p.P65P |
|
10 |
22605398 |
1 |
COMMD3;COMMD3-BMI1 |
C |
G |
exonic |
nonsynonymous SNV |
COMMD3-BMI1:NM_001204062:exon1:c.C52G:p.R18G,COMMD3:NM_012071:exon1:c.C52G:p.R18G |
|
10 |
22839628 |
2 |
PIP4K2A |
T |
C |
exonic |
nonsynonymous SNV |
PIP4K2A:NM_001330062:exon7:c.A575G:p.N192S,PIP4K2A:NM_005028:exon7:c.A752G:p.N251S |
RS2230469 |
Differential splicing of LOC643475
[probeset 3281092] in lymphoblastoid cell lines:Differential splicing of
PIP5K2A [probeset 3281092] in lymphoblastoid cell lines:Rheumatoid
arthritis:Gene expression of PIP5K2A in peripheral blood monocytes:Sporadic
Creutzfeldt-Jakob disease:Adiponectin levels |
|
10 |
24790393 |
1 |
KIAA1217 |
A |
G |
exonic |
synonymous SNV |
KIAA1217:NM_001282769:exon4:c.A969G:p.S323S,KIAA1217:NM_001282770:exon4:c.A969G:p.S323S,KIAA1217:NM_001321681:exon5:c.A1074G:p.S358S,KIAA1217:NM_001282767:exon8:c.A1815G:p.S605S,KIAA1217:NM_001282768:exon8:c.A1815G:p.S605S,KIAA1217:NM_019590:exon9:c.A1920G:p.S640S,KIAA1217:NM_001098500:exon10:c.A1680G:p.S560S |
|
10 |
24813454 |
2 |
KIAA1217 |
G |
A |
exonic |
nonsynonymous SNV |
KIAA1217:NM_001282769:exon8:c.G1708A:p.A570T,KIAA1217:NM_001282770:exon8:c.G1708A:p.A570T,KIAA1217:NM_001321681:exon9:c.G1813A:p.A605T,KIAA1217:NM_001282767:exon12:c.G2554A:p.A852T,KIAA1217:NM_001282768:exon12:c.G2554A:p.A852T,KIAA1217:NM_019590:exon13:c.G2659A:p.A887T,KIAA1217:NM_001098500:exon14:c.G2419A:p.A807T |
RS10828663 |
LDL cholesterol change with statins |
|
10 |
24873369 |
1 |
ARHGAP21 |
C |
G |
exonic |
nonsynonymous SNV |
ARHGAP21:NM_020824:exon26:c.G5849C:p.S1950T |
RS1127893 |
Cystatin C in serum |
|
10 |
24908686 |
1 |
ARHGAP21 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGAP21:NM_020824:exon9:c.A2138G:p.N713S |
RS3748222 |
Serum creatinine:Cystatin C in
serum:Triglycerides:Adiponectin levels |
|
10 |
25312689 |
1 |
THNSL1 |
A |
G |
exonic |
synonymous SNV |
THNSL1:NM_024838:exon3:c.A537G:p.G179G |
|
10 |
25313818 |
1 |
THNSL1 |
C |
T |
exonic |
synonymous SNV |
THNSL1:NM_024838:exon3:c.C1666T:p.L556L |
RS7086282 |
Hip bone mineral density (BMD):Age
at death with kuru exposure:Birth weight |
|
10 |
27434483 |
1 |
YME1L1 |
G |
A |
exonic |
synonymous SNV |
YME1L1:NM_001253866:exon3:c.C205T:p.L69L,YME1L1:NM_014263:exon3:c.C205T:p.L69L,YME1L1:NM_139312:exon4:c.C376T:p.L126L |
RS2274634 |
Longstanding arthritis:Rheumatoid
arthritis:LDL cholesterol:Gene expression of MASTL in CD4+ lymphocytes:Gene
expression of ANKRD26 in CD4+ lymphocytes:Body mass index (BMI):Gene
expression of RP11-85G18.2 in blood:Gene expression of ACBD5 (probeID ILMN_2410362)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
ACBD5 (probeID ILMN_2410362) in temporal cortex in Alzheimer's disease cases
and controls:Obesity with early age of onset (age >2):Maternal
transmission distortion:Gene expression of ACBD5 (probeID ILMN_2410362) in
cerebellum in Alzheimer's disease cases:Gene expression of ACBD5 (probeID
ILMN_2410362) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of MASTL (probeID ILMN_2135984) in cerebellum in Alzheimer's
disease cases and controls:Mitral annular calcium:Gene expression of MASTL in
normal prepouch ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
10 |
27459670 |
1 |
MASTL |
C |
T |
exonic |
synonymous SNV |
MASTL:NM_001172303:exon8:c.C1782T:p.I594I,MASTL:NM_001172304:exon8:c.C1782T:p.I594I,MASTL:NM_001320756:exon8:c.C1782T:p.I594I,MASTL:NM_001320757:exon8:c.C1782T:p.I594I,MASTL:NM_032844:exon8:c.C1782T:p.I594I |
RS1981296 |
Rheumatoid arthritis:Height:Mitral
annular calcium:Gene expression of MASTL in normal prepouch ileum:Obesity
with early age of onset (age >2) |
|
10 |
27475444 |
1 |
MASTL |
T |
C |
exonic |
synonymous SNV |
MASTL:NM_001172304:exon11:c.T2502C:p.T834T,MASTL:NM_001172303:exon12:c.T2619C:p.T873T,MASTL:NM_032844:exon12:c.T2616C:p.T872T,MASTL:NM_001320756:exon13:c.T2631C:p.T877T,MASTL:NM_001320757:exon13:c.T2634C:p.T878T |
RS10741130 |
Height:Mitral annular
calcium:Obesity with early age of onset (age >2) |
|
10 |
27499771 |
1 |
ACBD5 |
G |
A |
exonic |
synonymous SNV |
ACBD5:NM_001301254:exon6:c.C645T:p.D215D,ACBD5:NM_001301252:exon7:c.C849T:p.D283D,ACBD5:NM_001271512:exon8:c.C1170T:p.D390D,ACBD5:NM_001301251:exon8:c.C849T:p.D283D,ACBD5:NM_001301253:exon8:c.C849T:p.D283D,ACBD5:NM_001042473:exon9:c.C1071T:p.D357D,ACBD5:NM_145698:exon9:c.C1176T:p.D392D |
|
10 |
27499804 |
1 |
ACBD5 |
T |
C |
exonic |
synonymous SNV |
ACBD5:NM_001301254:exon6:c.A612G:p.A204A,ACBD5:NM_001301252:exon7:c.A816G:p.A272A,ACBD5:NM_001271512:exon8:c.A1137G:p.A379A,ACBD5:NM_001301251:exon8:c.A816G:p.A272A,ACBD5:NM_001301253:exon8:c.A816G:p.A272A,ACBD5:NM_001042473:exon9:c.A1038G:p.A346A,ACBD5:NM_145698:exon9:c.A1143G:p.A381A |
|
10 |
27506961 |
1 |
ACBD5 |
G |
A |
exonic |
synonymous SNV |
ACBD5:NM_001301252:exon5:c.C450T:p.P150P,ACBD5:NM_001271512:exon6:c.C771T:p.P257P,ACBD5:NM_001301251:exon6:c.C450T:p.P150P,ACBD5:NM_001301253:exon6:c.C450T:p.P150P,ACBD5:NM_001042473:exon7:c.C672T:p.P224P,ACBD5:NM_145698:exon7:c.C777T:p.P259P |
|
10 |
27508758 |
1 |
ACBD5 |
T |
C |
exonic |
synonymous SNV |
ACBD5:NM_001301252:exon4:c.A192G:p.P64P,ACBD5:NM_001301254:exon4:c.A192G:p.P64P,ACBD5:NM_001271512:exon5:c.A513G:p.P171P,ACBD5:NM_001301251:exon5:c.A192G:p.P64P,ACBD5:NM_001301253:exon5:c.A192G:p.P64P,ACBD5:NM_001042473:exon6:c.A414G:p.P138P,ACBD5:NM_145698:exon6:c.A519G:p.P173P |
RS10764690 |
Gene expression of MASTL in
peripheral blood monocytes:Partial epilepsy:Gene expression of MASTL in CD4+
lymphocytes:Height:Gene expression of ACBD5 in normal prepouch ileum:Gene
expression of MASTL in normal prepouch ileum |
|
10 |
29783885 |
2 |
SVIL |
A |
G |
exonic |
synonymous SNV |
SVIL:NM_003174:exon18:c.T2521C:p.L841L,SVIL:NM_001323600:exon19:c.T2617C:p.L873L,SVIL:NM_021738:exon20:c.T3799C:p.L1267L,SVIL:NM_001323599:exon21:c.T2869C:p.L957L |
|
10 |
29812602 |
2 |
SVIL |
G |
T |
exonic |
synonymous SNV |
SVIL:NM_003174:exon13:c.C1663A:p.R555R,SVIL:NM_001323600:exon14:c.C1759A:p.R587R,SVIL:NM_021738:exon15:c.C2941A:p.R981R,SVIL:NM_001323599:exon16:c.C2011A:p.R671R |
RS7070678 |
Triglycerides:Partial
epilepsy:Comorbid depressive syndrome and alcohol dependence:Sporadic
Creutzfeldt-Jakob disease:Platelet thrombus as measured by PFA-100ColA
closure time upon shear stress:SVIL expression in platelets |
|
10 |
29839864 |
1 |
SVIL |
A |
C |
exonic |
synonymous SNV |
SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_001323599:exon8:c.T489G:p.A163A,SVIL:NM_001323600:exon8:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A |
RS1270874 |
Type 2 diabetes:Eye color:Fasting
blood glucose:HDL cholesterol change with statins:Partial
epilepsy:Microalbuminuria:Urinary albumin-to-creatinine ratio |
|
10 |
32197127 |
1 |
ARHGAP12 |
A |
G |
exonic |
synonymous SNV |
ARHGAP12:NM_001270699:exon1:c.T657C:p.L219L,ARHGAP12:NM_001270695:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270696:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270697:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270698:exon3:c.T657C:p.L219L,ARHGAP12:NM_018287:exon3:c.T657C:p.L219L |
|
10 |
33209266 |
2 |
ITGB1 |
G |
T |
exonic |
synonymous SNV |
ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G |
RS2230396 |
Salmonella-induced pyroptosis:Gene
expression of C10orf68 in normal prepouch ileum |
|
10 |
33552696 |
2 |
NRP1 |
A |
G |
exonic |
nonsynonymous SNV |
NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A |
|
10 |
34620220 |
2 |
PARD3 |
C |
T |
exonic |
synonymous SNV |
PARD3:NM_001184791:exon16:c.G2442A:p.S814S,PARD3:NM_001184790:exon17:c.G2397A:p.S799S,PARD3:NM_001184786:exon18:c.G2619A:p.S873S,PARD3:NM_001184788:exon18:c.G2529A:p.S843S,PARD3:NM_001184789:exon18:c.G2529A:p.S843S,PARD3:NM_001184794:exon18:c.G2529A:p.S843S,PARD3:NM_001184785:exon19:c.G2658A:p.S886S,PARD3:NM_001184787:exon19:c.G2667A:p.S889S,PARD3:NM_001184792:exon19:c.G2658A:p.S886S,PARD3:NM_001184793:exon19:c.G2565A:p.S855S,PARD3:NM_019619:exon19:c.G2667A:p.S889S |
RS3781128 |
Gene expression of PARD3 in
liver:Eye color:Biploar disorder (bipolar schizoaffective disorder):2 hour
glucose:Waist hip ratio:Systolic blood pressure (SBP):Adiponectin
levels:Mitral annular calcium:Coronary artery disease (CAD) |
|
10 |
34688287 |
2 |
PARD3 |
G |
A |
exonic |
synonymous SNV |
PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H |
|
10 |
38120720 |
1 |
ZNF248 |
C |
T |
exonic |
synonymous SNV |
ZNF248:NM_001267597:exon6:c.G1563A:p.K521K,ZNF248:NM_021045:exon6:c.G1563A:p.K521K |
|
10 |
38120945 |
1 |
ZNF248 |
A |
G |
exonic |
synonymous SNV |
ZNF248:NM_001267597:exon6:c.T1338C:p.C446C,ZNF248:NM_021045:exon6:c.T1338C:p.C446C |
|
10 |
38407519 |
1 |
ZNF37A |
A |
G |
exonic |
synonymous SNV |
ZNF37A:NM_001178101:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324245:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324248:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324249:exon7:c.A1440G:p.S480S,ZNF37A:NM_003421:exon7:c.A1440G:p.S480S,ZNF37A:NM_001007094:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324246:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324247:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324250:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324251:exon8:c.A1440G:p.S480S |
RS176889 |
Body mass index (BMI) |
|
10 |
43089965 |
2 |
ZNF33B |
G |
A |
exonic |
nonsynonymous SNV |
ZNF33B:NM_001305033:exon4:c.C454T:p.R152C,ZNF33B:NM_001305036:exon5:c.C97T:p.R33C,ZNF33B:NM_001305037:exon5:c.C97T:p.R33C,ZNF33B:NM_001305038:exon5:c.C97T:p.R33C,ZNF33B:NM_006955:exon5:c.C433T:p.R145C,ZNF33B:NM_001305035:exon6:c.C97T:p.R33C,ZNF33B:NM_001305039:exon6:c.C97T:p.R33C,ZNF33B:NM_001305040:exon7:c.C97T:p.R33C |
RS210280 |
Gene expression of ZNF11B in
CEU-CHB-JPT lymphoblastoid cell lines:Differential exon level expression of
ZNF33B [probe 3285993] in peripheral blood mononuclear cells:Differential
exon level expression of ZNF33B [probe 3285993] in brain cortex:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of
ZNF33B in blood |
|
10 |
43127456 |
1 |
ZNF33B |
T |
C |
exonic |
synonymous SNV |
ZNF33B:NM_001305033:exon3:c.A192G:p.K64K,ZNF33B:NM_006955:exon4:c.A171G:p.K57K |
|
10 |
43315762 |
1 |
BMS1 |
C |
T |
exonic |
nonsynonymous SNV |
BMS1:NM_014753:exon16:c.C2659T:p.R887C |
|
10 |
43315765 |
1 |
BMS1 |
A |
G |
exonic |
nonsynonymous SNV |
BMS1:NM_014753:exon16:c.A2662G:p.I888V |
|
10 |
43315848 |
1 |
BMS1 |
T |
C |
exonic |
synonymous SNV |
BMS1:NM_014753:exon16:c.T2745C:p.S915S |
|
10 |
43316120 |
1 |
BMS1 |
C |
T |
exonic |
synonymous SNV |
BMS1:NM_014753:exon17:c.C2934T:p.C978C |
|
10 |
43317567 |
1 |
BMS1 |
A |
G |
exonic |
nonsynonymous SNV |
BMS1:NM_014753:exon19:c.A3067G:p.I1023V |
|
10 |
48317386 |
2 |
|
10 |
51361785 |
1 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon3:c.A1073G:p.Q358R,PARG:NM_001303486:exon4:c.A1151G:p.Q384R,PARG:NM_001324381:exon4:c.A1151G:p.Q384R,PARG:NM_003631:exon4:c.A1397G:p.Q466R |
|
10 |
51361850 |
1 |
PARG |
C |
T |
exonic |
synonymous SNV |
PARG:NM_001303487:exon3:c.G1008A:p.P336P,PARG:NM_001303486:exon4:c.G1086A:p.P362P,PARG:NM_001324381:exon4:c.G1086A:p.P362P,PARG:NM_003631:exon4:c.G1332A:p.P444P |
|
10 |
51362945 |
2 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.A803G:p.H268R,PARG:NM_001303486:exon3:c.A881G:p.H294R,PARG:NM_001324381:exon3:c.A881G:p.H294R,PARG:NM_003631:exon3:c.A1127G:p.H376R |
|
10 |
51363013 |
2 |
PARG |
G |
A |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.C735T:p.F245F,PARG:NM_001303486:exon3:c.C813T:p.F271F,PARG:NM_001324381:exon3:c.C813T:p.F271F,PARG:NM_003631:exon3:c.C1059T:p.F353F |
|
10 |
51363227 |
2 |
PARG |
A |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.T521C:p.I174T,PARG:NM_001303486:exon3:c.T599C:p.I200T,PARG:NM_001324381:exon3:c.T599C:p.I200T,PARG:NM_003631:exon3:c.T845C:p.I282T |
|
10 |
51363294 |
2 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E |
|
10 |
51363304 |
2 |
PARG |
G |
A |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.C444T:p.D148D,PARG:NM_001303486:exon3:c.C522T:p.D174D,PARG:NM_001324381:exon3:c.C522T:p.D174D,PARG:NM_003631:exon3:c.C768T:p.D256D |
|
10 |
51363391 |
2 |
PARG |
G |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.C357G:p.H119Q,PARG:NM_001303486:exon3:c.C435G:p.H145Q,PARG:NM_001324381:exon3:c.C435G:p.H145Q,PARG:NM_003631:exon3:c.C681G:p.H227Q |
|
10 |
51370975 |
2 |
PARG |
C |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303489:exon1:c.G92C:p.R31P |
|
10 |
51827934 |
2 |
WASHC2A |
G |
A |
exonic |
nonsynonymous SNV |
WASHC2A:NM_001005751:exon2:c.G73A:p.V25M,WASHC2A:NM_001291398:exon2:c.G73A:p.V25M,WASHC2A:NM_001330102:exon2:c.G73A:p.V25M |
|
10 |
52103707 |
1 |
SGMS1 |
A |
G |
exonic |
synonymous SNV |
SGMS1:NM_147156:exon7:c.T168C:p.N56N |
RS10763354 |
Total cholesterol:Urinary
albumin-to-creatinine ratio:Aortic valve calcium |
|
10 |
54528236 |
1 |
MBL2 |
G |
A |
exonic |
synonymous SNV |
MBL2:NM_000242:exon4:c.C408T:p.N136N |
|
10 |
54531235 |
1 |
MBL2 |
C |
T |
exonic |
nonsynonymous SNV |
MBL2:NM_000242:exon1:c.G161A:p.G54D |
RS1800450 |
Hip bone mineral density
(BMD):Vitiligo:Rheumatoid arthritis:P11226 protein abundance levels:Birth
weight:Large artery atherosclerosis |
|
10 |
58118630 |
2 |
ZWINT |
T |
C |
exonic |
nonsynonymous SNV |
ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G |
RS2241666 |
Infant head
circumference:Parkinson's disease |
|
10 |
59955992 |
1 |
IPMK |
A |
C |
exonic |
nonsynonymous SNV |
IPMK:NM_152230:exon6:c.T1096G:p.F366V |
|
10 |
61005244 |
2 |
PHYHIPL |
G |
C |
exonic |
nonsynonymous SNV |
PHYHIPL:NM_001143774:exon5:c.G946C:p.V316L,PHYHIPL:NM_032439:exon5:c.G1024C:p.V342L |
RS2452505 |
LDL cholesterol:Total cholesterol
change with statins:LDL cholesterol:Total cholesterol:Waist hip ratio |
|
10 |
61552692 |
1 |
CCDC6 |
G |
T |
exonic |
nonsynonymous SNV |
CCDC6:NM_005436:exon9:c.C1408A:p.P470T |
RS1053266 |
Total cholesterol change with
statins:PROP taste detection threshold:Birth weight:Refractive error |
|
10 |
61552774 |
1 |
CCDC6 |
C |
T |
exonic |
synonymous SNV |
CCDC6:NM_005436:exon9:c.G1326A:p.P442P |
|
10 |
61665886 |
2 |
CCDC6 |
C |
A |
exonic |
synonymous SNV |
CCDC6:NM_005436:exon1:c.G297T:p.V99V |
RS1171830 |
LDL cholesterol:Triglycerides
change with statins:Serum creatinine:Infant head circumference |
|
10 |
63958112 |
2 |
RTKN2 |
T |
C |
exonic |
nonsynonymous SNV |
RTKN2:NM_145307:exon12:c.A1385G:p.H462R |
RS3125734 |
Eye color:Total cholesterol:Gene
expression of RP11-341A19.1 in blood:Comorbid depressive syndrome and alcohol
dependence:Primary rhegmatogenous retinal detachment:Rheumatoid
arthritis:Graves' disease |
|
10 |
64565011 |
1 |
ADO |
G |
A |
exonic |
synonymous SNV |
ADO:NM_032804:exon1:c.G192A:p.E64E |
|
10 |
64945364 |
1 |
JMJD1C |
G |
A |
exonic |
synonymous SNV |
JMJD1C:NM_001322254:exon18:c.C6132T:p.D2044D,JMJD1C:NM_001282948:exon19:c.C6243T:p.D2081D,JMJD1C:NM_001318153:exon19:c.C5925T:p.D1975D,JMJD1C:NM_001322252:exon19:c.C6675T:p.D2225D,JMJD1C:NM_001322258:exon19:c.C6132T:p.D2044D,JMJD1C:NM_001318154:exon20:c.C6243T:p.D2081D,JMJD1C:NM_032776:exon20:c.C6789T:p.D2263D |
RS3211105 |
Spine bone mineral density
(BMD):Triglycerides:Gene expression of [probe 7650136 centered at
chr10:64587059] in blood:Platelet count:Salmonella-induced pyroptosis:College
completion |
|
10 |
64967445 |
2 |
JMJD1C |
A |
T |
exonic |
synonymous SNV |
JMJD1C:NM_001322254:exon8:c.T3327A:p.R1109R,JMJD1C:NM_001282948:exon9:c.T3438A:p.R1146R,JMJD1C:NM_001318153:exon9:c.T3120A:p.R1040R,JMJD1C:NM_001322252:exon9:c.T3870A:p.R1290R,JMJD1C:NM_001322258:exon9:c.T3327A:p.R1109R,JMJD1C:NM_001318154:exon10:c.T3438A:p.R1146R,JMJD1C:NM_032776:exon10:c.T3984A:p.R1328R |
|
10 |
64973978 |
1 |
JMJD1C |
G |
A |
exonic |
nonsynonymous SNV |
JMJD1C:NM_001322254:exon6:c.C1292T:p.T431I,JMJD1C:NM_001282948:exon7:c.C1403T:p.T468I,JMJD1C:NM_001318153:exon7:c.C1085T:p.T362I,JMJD1C:NM_001322252:exon7:c.C1835T:p.T612I,JMJD1C:NM_001322258:exon7:c.C1292T:p.T431I,JMJD1C:NM_001318154:exon8:c.C1403T:p.T468I,JMJD1C:NM_032776:exon8:c.C1949T:p.T650I |
|
10 |
64974537 |
1 |
JMJD1C |
A |
T |
exonic |
nonsynonymous SNV |
JMJD1C:NM_001322254:exon6:c.T733A:p.S245T,JMJD1C:NM_001282948:exon7:c.T844A:p.S282T,JMJD1C:NM_001318153:exon7:c.T526A:p.S176T,JMJD1C:NM_001322252:exon7:c.T1276A:p.S426T,JMJD1C:NM_001322258:exon7:c.T733A:p.S245T,JMJD1C:NM_001318154:exon8:c.T844A:p.S282T,JMJD1C:NM_032776:exon8:c.T1390A:p.S464T |
RS10761725 |
Gene expression of probe 241391_at
in lymphoblastoid cell lines:Triglycerides:Triglycerides change with
statins:HDL cholesterol change with statins:HDL cholesterol:LDL
cholesterol:Triglycerides:Adiponectin levels:Years of education:College
completion:Platelet count |
|
10 |
70101352 |
1 |
HNRNPH3 |
T |
C |
exonic |
synonymous SNV |
HNRNPH3:NM_001322444:exon6:c.T462C:p.Y154Y,HNRNPH3:NM_001322445:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322446:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322447:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322448:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322449:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322450:exon7:c.T375C:p.Y125Y,HNRNPH3:NM_001322451:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322452:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322453:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322434:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322436:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322437:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322438:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322439:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322440:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322441:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322442:exon8:c.T768C:p.Y256Y,HNRNPH3:NM_001322443:exon8:c.T768C:p.Y256Y,HNRNPH3:NM_012207:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_021644:exon8:c.T741C:p.Y247Y |
|
10 |
70105560 |
1 |
RUFY2 |
G |
A |
exonic |
synonymous SNV |
RUFY2:NM_001330103:exon18:c.C1786T:p.L596L,RUFY2:NM_017987:exon18:c.C1891T:p.L631L |
RS1162753 |
Gene expression of DNA2 in normal
prepouch ileum:Gene expression of HNRNPH3 (ENSG00000096746) in dendritic
cells |
|
10 |
70502288 |
2 |
CCAR1 |
G |
A |
exonic |
synonymous SNV |
CCAR1:NM_001282959:exon5:c.G435A:p.T145T,CCAR1:NM_001282960:exon5:c.G435A:p.T145T,CCAR1:NM_018237:exon6:c.G480A:p.T160T |
RS1300253 |
Hip bone mineral density (BMD):HDL
cholesterol change with statins:Late onset Alzheimer's disease:Bipolar
disorder in alcoholics:Bipolar disorder in non-alcoholics:Adiponectin levels |
|
10 |
70696713 |
2 |
DDX50 |
C |
T |
exonic |
synonymous SNV |
DDX50:NM_024045:exon12:c.C1617T:p.Y539Y |
RS5030895 |
Aortic valve calcium |
|
10 |
70700944 |
2 |
DDX50 |
A |
G |
exonic |
synonymous SNV |
DDX50:NM_024045:exon13:c.A1884G:p.G628G |
|
10 |
70892791 |
1 |
VPS26A |
C |
T |
exonic |
nonsynonymous SNV |
VPS26A:NM_001318944:exon2:c.C14T:p.P5L,VPS26A:NM_001318945:exon2:c.C14T:p.P5L |
RS5030932 |
Fasting blood glucose:Total
cholesterol:LDL cholesterol:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Adiponectin levels:Mitral annular calcium:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
10 |
71010375 |
1 |
HKDC1 |
C |
T |
exonic |
synonymous SNV |
HKDC1:NM_025130:exon12:c.C1803T:p.F601F |
RS5030948 |
2 hour glucose:Autism:Total
cholesterol:LDL cholesterol |
|
10 |
71018660 |
2 |
HKDC1 |
T |
C |
exonic |
nonsynonymous SNV |
HKDC1:NM_025130:exon15:c.T2161C:p.W721R |
|
10 |
71026510 |
1 |
HKDC1 |
C |
A |
exonic |
nonsynonymous SNV |
HKDC1:NM_025130:exon18:c.C2751A:p.N917K |
RS906219 |
2 hour glucose:Triglycerides change
with statins:Attention-deficit/hyperactivity disorder (ADHD):Body mass index
(BMI):Gene expression of SUPV3L1 in blood:Advanced age-related macular
degeneration (geographic atrophy) |
|
10 |
71392692 |
2 |
C10orf35 |
T |
C |
exonic |
synonymous SNV |
C10orf35:NM_145306:exon4:c.T243C:p.L81L |
RS1052152 |
Bipolar disorder, combined control
dataset, gender differentiated:Gene expression of AF147422 in liver:Gene
expression of C10orf35 in liver:2 hour glucose:Fasting blood glucose:Cystatin
C in serum:PROP taste detection threshold:Adiponectin levels |
|
10 |
71876382 |
2 |
AIFM2 |
C |
T |
exonic |
synonymous SNV |
AIFM2:NM_001198696:exon7:c.G765A:p.A255A,AIFM2:NM_032797:exon7:c.G765A:p.A255A |
RS2394656 |
Type 2 diabetes |
|
10 |
71905569 |
1 |
TYSND1 |
C |
A |
exonic |
synonymous SNV |
TYSND1:NM_001040273:exon1:c.G774T:p.L258L,TYSND1:NM_173555:exon1:c.G774T:p.L258L |
RS3750774 |
Gene expression of SAR1A [probe
210790_s_at] in lymphoblastoid cell lines:Gene expression of SAR1A [probe
201542_at] in lymphoblastoid cell lines:LDL cholesterol change with
statins:HDL cholesterol change with statins:Triglycerides change with
statins:Rheumatoid arthritis:Methylation levels at chr10:71562721-71562771
[hg18 coord, probe cg26699283] in Temporal cortex:Methylation levels at
chr10:71562716-71562766 [hg18 coord, probe cg02100629] in Temporal
cortex:Comorbid depressive syndrome and alcohol dependence |
|
10 |
71905695 |
1 |
TYSND1 |
A |
G |
exonic |
synonymous SNV |
TYSND1:NM_001040273:exon1:c.T648C:p.G216G,TYSND1:NM_173555:exon1:c.T648C:p.G216G |
|
10 |
72614524 |
1 |
SGPL1 |
A |
G |
exonic |
synonymous SNV |
SGPL1:NM_003901:exon5:c.A321G:p.K107K |
RS11597050 |
Mitral annular calcium:Acute lung
injury following major trauma |
|
10 |
72619205 |
2 |
SGPL1 |
C |
T |
exonic |
synonymous SNV |
SGPL1:NM_003901:exon7:c.C564T:p.I188I |
|
10 |
73082563 |
2 |
SLC29A3 |
A |
G |
exonic |
nonsynonymous SNV |
SLC29A3:NM_001174098:exon2:c.A52G:p.R18G,SLC29A3:NM_018344:exon2:c.A52G:p.R18G |
RS2277257 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Rheumatoid arthritis:Schizophrenia:Premature ovarian
failure:Lp-PLA2 activity:Late onset Alzheimer's disease:Years of
education:Aortic valve calcium |
|
10 |
73111408 |
2 |
SLC29A3 |
C |
T |
exonic |
nonsynonymous SNV |
SLC29A3:NM_001174098:exon4:c.C473T:p.S158F,SLC29A3:NM_018344:exon4:c.C473T:p.S158F |
RS780668 |
Gene expression of SLC29A3 [probe
3251023] in peripheral blood mononuclear cells:Gene expression of SLC29A3 in
blood |
|
10 |
73115941 |
2 |
SLC29A3 |
T |
C |
exonic |
synonymous SNV |
SLC29A3:NM_001174098:exon5:c.T714C:p.T238T,SLC29A3:NM_018344:exon5:c.T714C:p.T238T |
|
10 |
73115942 |
2 |
SLC29A3 |
G |
A |
exonic |
nonsynonymous SNV |
SLC29A3:NM_001174098:exon5:c.G715A:p.V239I,SLC29A3:NM_018344:exon5:c.G715A:p.V239I |
RS2252996 |
Gene expression of SLC29A3 [probe
3251023] in peripheral blood mononuclear cells:Neuroblastoma (brain
cancer):Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression
of SLC29A3 in blood:Infant head circumference:Mitral annular calcium:College
completion:Systemic lupus erythematosus (SLE) |
|
10 |
73121913 |
2 |
SLC29A3 |
A |
G |
exonic |
nonsynonymous SNV |
SLC29A3:NM_018344:exon6:c.A976G:p.I326V |
RS2487068 |
Gene expression of SLC29A3 [probe
3251023] in peripheral blood mononuclear cells:Asthma:Gene expression of
SLC29A3 in blood:Mitral annular calcium:Obesity with early age of onset (age
>2) |
|
10 |
73121945 |
2 |
SLC29A3 |
T |
C |
exonic |
synonymous SNV |
SLC29A3:NM_018344:exon6:c.T1008C:p.G336G |
RS1084004 |
Gene expression of SLC29A3 [probe
3251023] in peripheral blood mononuclear cells:Premature ovarian
failure:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of SLC29A3 in blood:Fasting serum
insulin (uU/mL) in children:Coronary artery disease (CAD):HOMA-IR in
children:Hypertension (early onset hypertension):College completion |
|
10 |
73767859 |
1 |
CHST3 |
G |
A |
exonic |
nonsynonymous SNV |
CHST3:NM_004273:exon3:c.G1070A:p.R357Q |
|
10 |
75506674 |
1 |
SEC24C |
T |
C |
exonic |
synonymous SNV |
SEC24C:NM_198597:exon2:c.T84C:p.Y28Y,SEC24C:NM_004922:exon3:c.T84C:p.Y28Y |
RS2306325 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Mitral annular calcium |
|
10 |
75527708 |
1 |
SEC24C |
A |
G |
exonic |
synonymous SNV |
SEC24C:NM_198597:exon15:c.A2124G:p.T708T,SEC24C:NM_004922:exon16:c.A2124G:p.T708T |
RS4746147 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Mitral annular calcium |
|
10 |
75558867 |
1 |
ZSWIM8 |
G |
A |
exonic |
synonymous SNV |
ZSWIM8:NM_001242487:exon21:c.G4269A:p.L1423L,ZSWIM8:NM_001242488:exon21:c.G4269A:p.L1423L,ZSWIM8:NM_015037:exon21:c.G4284A:p.L1428L |
RS2271271 |
HDL
cholesterol:Triglycerides:Nicotine dependence (smoking), smoking
cessation:Rheumatoid arthritis:Methylation levels at chr10:75242176-75242226
[hg18 coord, probe cg16540259] in Temporal cortex:Methylation levels at
chr10:75242176-75242226 [hg18 coord, probe cg16540259] in
Cerebellum:Methylation levels at chr10:75242176-75242226 [hg18 coord, probe
cg16540259] in Frontal cortex:HDL cholesterol:Triglycerides:Asthma:Systolic
blood pressure (SBP):College completion:Hypertension (early onset
hypertension):Infant head circumference:Years of education:Tetrology of
fallot |
|
10 |
75559077 |
1 |
ZSWIM8 |
G |
A |
exonic |
synonymous SNV |
ZSWIM8:NM_001242487:exon21:c.G4479A:p.P1493P,ZSWIM8:NM_001242488:exon21:c.G4479A:p.P1493P,ZSWIM8:NM_015037:exon21:c.G4494A:p.P1498P |
RS11000780 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Mitral annular calcium |
|
10 |
75865065 |
2 |
VCL |
G |
A |
exonic |
synonymous SNV |
VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P |
RS767809 |
Cystatin C in serum:Chronic kidney
disease:Rheumatoid arthritis:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):PROP taste detection threshold |
|
10 |
76854564 |
1 |
DUSP13 |
C |
T |
exonic |
nonsynonymous SNV |
DUSP13:NM_001007272:exon4:c.G617A:p.C206Y,DUSP13:NM_016364:exon4:c.G467A:p.C156Y,DUSP13:NM_001320843:exon5:c.G467A:p.C156Y,DUSP13:NM_001007273:exon6:c.G746A:p.C249Y,DUSP13:NM_001320842:exon7:c.G746A:p.C249Y |
RS3088142 |
Hip bone mineral density
(BMD):Triglycerides:HDL cholesterol:Triglycerides |
|
10 |
76855421 |
1 |
DUSP13 |
G |
A |
exonic |
synonymous SNV |
DUSP13:NM_001007272:exon3:c.C456T:p.I152I,DUSP13:NM_016364:exon3:c.C306T:p.I102I,DUSP13:NM_001320843:exon4:c.C306T:p.I102I,DUSP13:NM_001007273:exon5:c.C585T:p.I195I,DUSP13:NM_001320842:exon6:c.C585T:p.I195I |
RS3740316 |
Height |
|
10 |
76861680 |
1 |
DUSP13 |
T |
C |
exonic |
nonsynonymous SNV |
DUSP13:NM_001007273:exon3:c.A223G:p.S75G,DUSP13:NM_001320842:exon4:c.A223G:p.S75G |
RS6480771 |
Hip bone mineral density (BMD):Gene
expression of COMTD1 in blood |
|
10 |
77158588 |
1 |
ZNF503 |
G |
A |
exonic |
synonymous SNV |
ZNF503:NM_032772:exon2:c.C1860T:p.P620P |
|
10 |
77807027 |
2 |
LRMDA |
T |
C |
exonic |
synonymous SNV |
LRMDA:NM_032024:exon3:c.T280C:p.L94L,LRMDA:NM_001305581:exon4:c.T364C:p.L122L |
RS1898071 |
Fasting insulin:HOMA-IR:LDL
cholesterol:Total cholesterol |
|
10 |
79566632 |
1 |
DLG5 |
G |
A |
exonic |
synonymous SNV |
DLG5:NM_004747:exon26:c.C4851T:p.D1617D |
RS1058198 |
LDL cholesterol:HDL cholesterol
change with statins:Height:Gene expression of DLG5 in normal prepouch
ileum:Years of education:College completion |
|
10 |
79584178 |
1 |
DLG5 |
G |
C |
exonic |
synonymous SNV |
DLG5:NM_004747:exon14:c.C2346G:p.R782R |
RS1248629 |
Years of education |
|
10 |
79616605 |
2 |
DLG5 |
T |
C |
exonic |
nonsynonymous SNV |
DLG5:NM_004747:exon3:c.A419G:p.Q140R |
RS1248696 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with
statins:Asthma:Late onset Alzheimer's disease |
|
10 |
79744035 |
1 |
POLR3A |
C |
T |
exonic |
synonymous SNV |
POLR3A:NM_007055:exon25:c.G3264A:p.Q1088Q |
|
10 |
81926702 |
2 |
ANXA11 |
G |
A |
exonic |
nonsynonymous SNV |
ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C |
RS1049550 |
Sarcoidosis:LDL cholesterol:Total
cholesterol:Rheumatoid arthritis:Chemosensitivity to targeted regimes in
metastatic colorectal cancer (Bevacizumab regimen - disease control
response):Chemosensitivity to targeted regimes in metastatic colorectal
cancer (Bevacizumab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to
targeted regimes in metastatic colorectal cancer (Bevacizumab regimen):Mitral
annular calcium:Birth weight:Sarcoidosis |
|
10 |
82034842 |
2 |
MAT1A |
A |
G |
exonic |
synonymous SNV |
MAT1A:NM_000429:exon7:c.T882C:p.A294A |
RS10887711 |
Years of education:Gene expression
of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease
samples:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in
Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in
temporal cortex in Alzheimer's disease cases and controls:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:College completion |
|
10 |
82034854 |
2 |
MAT1A |
T |
C |
exonic |
synonymous SNV |
MAT1A:NM_000429:exon7:c.A870G:p.V290V |
RS10788546 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex
in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657)
in temporal cortex in non-Alzheimer's disease samples:Advanced age-related
macular degeneration:College completion |
|
10 |
82040052 |
2 |
MAT1A |
A |
G |
exonic |
synonymous SNV |
MAT1A:NM_000429:exon5:c.T426C:p.A142A |
RS1143694 |
Chronic kidney disease:Gene
expression of TSPAN14 in peripheral blood monocytes:Gene expression of ANXA11
in peripheral blood monocytes |
|
10 |
88203068 |
2 |
WAPL |
T |
C |
exonic |
synonymous SNV |
WAPL:NM_001318328:exon17:c.A3357G:p.T1119T,WAPL:NM_015045:exon17:c.A3375G:p.T1125T |
RS7094132 |
Height |
|
10 |
88277457 |
2 |
WAPL |
C |
T |
exonic |
nonsynonymous SNV |
WAPL:NM_001318328:exon2:c.G370A:p.V124I,WAPL:NM_015045:exon2:c.G370A:p.V124I |
RS10887621 |
Eye color:Barnes Akathisia Rating
Scale:Alzheimer's disease:Total cholesterol:HDL cholesterol:Waist hip
ratio:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Years
of education:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD |
|
10 |
88683426 |
1 |
BMPR1A |
A |
G |
exonic |
nonsynonymous SNV |
BMPR1A:NM_004329:exon13:c.A1549G:p.I517V |
|
10 |
88719789 |
2 |
SNCG |
C |
G |
exonic |
nonsynonymous SNV |
SNCG:NM_001330120:exon5:c.C247G:p.R83G |
|
10 |
88930249 |
1 |
FAM35A |
A |
T |
exonic |
nonsynonymous SNV |
FAM35A:NM_001330112:exon5:c.A1648T:p.S550C,FAM35A:NM_019054:exon5:c.A1648T:p.S550C |
RS11202365 |
Total cholesterol change with
statins:Rheumatoid arthritis:Aortic valve calcium:Adiponectin
levels:Refractive error |
|
10 |
88993813 |
2 |
NUTM2A |
T |
A |
exonic |
nonsynonymous SNV |
NUTM2A:NM_001099338:exon7:c.T1985A:p.V662D |
|
10 |
89623901 |
2 |
PTEN |
G |
C |
exonic |
nonsynonymous SNV |
PTEN:NM_001304717:exon2:c.G194C:p.C65S |
|
10 |
91479211 |
2 |
KIF20B |
G |
T |
exonic |
nonsynonymous SNV |
KIF20B:NM_001284259:exon13:c.G1470T:p.E490D,KIF20B:NM_016195:exon13:c.G1470T:p.E490D |
RS17484219 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
10 |
91498127 |
2 |
KIF20B |
T |
C |
exonic |
nonsynonymous SNV |
KIF20B:NM_001284259:exon20:c.T3529C:p.C1177R,KIF20B:NM_016195:exon20:c.T3409C:p.C1137R |
RS1886996 |
LDL cholesterol:HDL cholesterol
change with statins:Lp-PLA2 mass:LDL cholesterol:Neuroblastoma (brain
cancer):Gene expression of KIF20B in blood:Sporadic Creutzfeldt-Jakob
disease:College completion:Salmonella-induced pyroptosis:Advanced age-related
macular degeneration |
|
10 |
93717014 |
2 |
BTAF1 |
A |
G |
exonic |
synonymous SNV |
BTAF1:NM_003972:exon8:c.A864G:p.E288E |
|
10 |
95259979 |
1 |
CEP55 |
C |
G |
exonic |
nonsynonymous SNV |
CEP55:NM_001127182:exon2:c.C171G:p.H57Q,CEP55:NM_018131:exon2:c.C171G:p.H57Q |
RS3740370 |
Triglycerides change with statins |
|
10 |
95262981 |
2 |
CEP55 |
A |
G |
exonic |
nonsynonymous SNV |
CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A |
|
10 |
95279506 |
2 |
CEP55 |
A |
T |
exonic |
nonsynonymous SNV |
CEP55:NM_001127182:exon8:c.A1133T:p.H378L,CEP55:NM_018131:exon8:c.A1133T:p.H378L |
RS2293277 |
HDL cholesterol:HDL
cholesterol:Gene expression of GPR120 in peripheral blood monocytes:HDL
cholesterol:Height:Microalbuminuria:Adiponectin levels |
|
10 |
95441272 |
1 |
FRA10AC1 |
G |
A |
exonic |
nonsynonymous SNV |
FRA10AC1:NM_001347712:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347714:exon11:c.C752T:p.S251F,FRA10AC1:NM_145246:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347713:exon12:c.C752T:p.S251F,FRA10AC1:NM_001347715:exon12:c.C752T:p.S251F |
RS11187583 |
LDL cholesterol:Parkinson's
disease:Gene expression of FRA10AC1 in normal prepouch ileum |
|
10 |
95454681 |
1 |
FRA10AC1 |
G |
C |
exonic |
nonsynonymous SNV |
FRA10AC1:NM_001347712:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347714:exon5:c.C233G:p.T78R,FRA10AC1:NM_145246:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347713:exon6:c.C233G:p.T78R,FRA10AC1:NM_001347715:exon6:c.C233G:p.T78R |
RS2275438 |
PROP taste detection
threshold:Adiponectin levels:Refractive error:Parkinson's disease |
|
10 |
95459817 |
2 |
FRA10AC1 |
C |
T |
exonic |
nonsynonymous SNV |
FRA10AC1:NM_001347712:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347714:exon2:c.G47A:p.R16H,FRA10AC1:NM_145246:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347713:exon3:c.G47A:p.R16H,FRA10AC1:NM_001347715:exon3:c.G47A:p.R16H |
RS726817 |
Differential exon level expression
of C10orf4 [probe 3300820] in brain cortex:Differential exon level expression
of C10orf4 [probe 3300820] in peripheral blood mononuclear cells:Gene
expression of C10orf4 in blood:Chronic fatigue syndrome:Resistance to kuru in
aged women despite likely exposure:Refractive error |
|
10 |
96104665 |
1 |
NOC3L |
T |
G |
exonic |
nonsynonymous SNV |
NOC3L:NM_022451:exon12:c.A1415C:p.E472A |
RS3758526 |
Total cholesterol change with
statins:LDL cholesterol change with
statins:Triglycerides:Microalbuminuria:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Birth weight:Advanced
age-related macular degeneration:Adiponectin levels |
|
10 |
97447373 |
2 |
TCTN3 |
A |
T |
exonic |
synonymous SNV |
TCTN3:NM_015631:exon4:c.T603A:p.T201T |
|
10 |
98287792 |
1 |
TM9SF3 |
G |
T |
exonic |
synonymous SNV |
TM9SF3:NM_020123:exon12:c.C1537A:p.R513R |
RS12779720 |
Triglycerides |
|
10 |
98369536 |
1 |
PIK3AP1 |
A |
G |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon14:c.T2103C:p.S701S |
RS3748236 |
Microalbuminuria |
|
10 |
98380137 |
1 |
PIK3AP1 |
T |
C |
exonic |
nonsynonymous SNV |
PIK3AP1:NM_152309:exon12:c.A1913G:p.K638R |
RS12784975 |
2 hour glucose |
|
10 |
98380277 |
1 |
PIK3AP1 |
C |
T |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S |
RS3748234 |
Fasting insulin |
|
10 |
98386558 |
2 |
PIK3AP1 |
G |
A |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L |
|
10 |
99019177 |
2 |
ARHGAP19 |
A |
G |
exonic |
synonymous SNV |
ARHGAP19:NM_001204300:exon5:c.T822C:p.H274H,ARHGAP19:NM_001256423:exon5:c.T795C:p.H265H,ARHGAP19:NM_032900:exon5:c.T822C:p.H274H |
RS2253301 |
Fasting blood glucose:Infant head
circumference |
|
10 |
99116903 |
1 |
RRP12 |
C |
T |
exonic |
nonsynonymous SNV |
RRP12:NM_001284337:exon31:c.G3542A:p.R1181Q,RRP12:NM_001145114:exon32:c.G3659A:p.R1220Q,RRP12:NM_015179:exon34:c.G3842A:p.R1281Q |
RS1048445 |
Differential exon level expression
of RRP12 [probe 3302249] in brain cortex:Gene expression of RRP12 [probe
3302240] in peripheral blood mononuclear cells:Differential exon level
expression of RRP12 [probe 3302260] in peripheral blood mononuclear cells:Urinary
albumin-to-creatinine ratio:Gene expression of RRP12 in blood:Gene expression
of RP11-452K12.9 in blood:Gene expression of FRAT1 in blood:Gene expression
of FRAT2 in blood:Gene expression of RRP12 [probeset 216913_s_at] in
sputum:Refractive error:Gene expression change of FRAT2 (ENSG00000181274) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of FRAT2 (ENSG00000181274) in dendritic cells:Gene expression of
FRAT2 (ENSG00000181274) in dendritic cells treated with Mycobacterium
tuberculosis:Birth weight |
|
10 |
99125949 |
1 |
RRP12 |
C |
T |
exonic |
nonsynonymous SNV |
RRP12:NM_001284337:exon26:c.G3133A:p.G1045S,RRP12:NM_001145114:exon27:c.G3250A:p.G1084S,RRP12:NM_015179:exon29:c.G3433A:p.G1145S |
RS2275580 |
Spine bone mineral density
(BMD):Total cholesterol change with statins:Body mass index (BMI):Gene
expression of RP11-452K12.9 in blood:Gene expression of RRP12 in blood:Gene
expression of FRAT1 in blood:Gene expression of RP11-452K12.9///ZDHHC16 in
blood:Gene expression of FRAT2 in blood:Gene expression of SLIT1 in
blood:Gene expression of RRP12 [probeset 216913_s_at] in sputum |
|
10 |
99126249 |
1 |
RRP12 |
G |
A |
exonic |
synonymous SNV |
RRP12:NM_001284337:exon25:c.C3045T:p.D1015D,RRP12:NM_001145114:exon26:c.C3162T:p.D1054D,RRP12:NM_015179:exon28:c.C3345T:p.D1115D |
RS2275581 |
Gene expression of KIAA0690 in
blood cells in Celiac disease:Differential exon level expression of RRP12
[probe 3302249] in brain cortex:Differential exon level expression of RRP12
[probe 3302260] in peripheral blood mononuclear cells:Gene expression of RRP12
[probe 3302240] in peripheral blood mononuclear cells:Urinary
albumin-to-creatinine ratio:Gene expression of FRAT1 in blood:Gene expression
of FRAT2 in blood:Gene expression of RRP12 in blood:Gene expression of
RP11-452K12.9 in blood:Gene expression of RRP12 [probeset 216913_s_at] in
sputum:Birth weight:Gene expression of RRP12 in normal prepouch ileum |
|
10 |
99141205 |
1 |
RRP12 |
A |
G |
exonic |
synonymous SNV |
RRP12:NM_001284337:exon9:c.T1056C:p.A352A,RRP12:NM_001145114:exon10:c.T1173C:p.A391A,RRP12:NM_015179:exon12:c.T1356C:p.A452A |
RS2275089 |
Urinary albumin-to-creatinine
ratio:Aortic valve calcium:Gene expression of RRP12 (probeID ILMN_1767253) in
whole blood |
|
10 |
99141484 |
1 |
RRP12 |
C |
T |
exonic |
synonymous SNV |
RRP12:NM_001284337:exon8:c.G1008A:p.T336T,RRP12:NM_001145114:exon9:c.G1125A:p.T375T,RRP12:NM_015179:exon11:c.G1308A:p.T436T |
|
10 |
99160152 |
1 |
RRP12 |
A |
G |
exonic |
synonymous SNV |
RRP12:NM_001145114:exon2:c.T279C:p.G93G,RRP12:NM_001284337:exon2:c.T279C:p.G93G,RRP12:NM_015179:exon2:c.T279C:p.G93G |
RS1048442 |
Multiple sclerosis:Gene expression
of KIAA0690 in blood cells in Celiac disease:Gene expression of RRP12 [probe
3302240] in peripheral blood mononuclear cells:Differential exon level
expression of RRP12 [probe 3302249] in brain cortex:Differential exon level
expression of RRP12 [probe 3302260] in peripheral blood mononuclear
cells:Urinary albumin-to-creatinine ratio:Gene expression of SLIT1 in
blood:Gene expression of RRP12 in blood:Gene expression of FRAT2 in
blood:Gene expression of FRAT1 in blood:Gene expression of RRP12 [probeset
216913_s_at] in sputum:Refractive error:Gene expression of RRP12 (probeID
ILMN_1767253) in whole blood |
|
10 |
99160965 |
2 |
RRP12 |
A |
G |
exonic |
synonymous SNV |
RRP12:NM_001145114:exon1:c.T24C:p.P8P,RRP12:NM_001284337:exon1:c.T24C:p.P8P,RRP12:NM_015179:exon1:c.T24C:p.P8P |
|
10 |
99219885 |
2 |
MMS19 |
G |
A |
exonic |
synonymous SNV |
MMS19:NM_001330128:exon24:c.C2280T:p.A760A,MMS19:NM_001289403:exon25:c.C2445T:p.A815A,MMS19:NM_001289404:exon25:c.C2097T:p.A699A,MMS19:NM_001351357:exon25:c.C2100T:p.A700A,MMS19:NM_001351358:exon25:c.C1482T:p.A494A,MMS19:NM_001351359:exon26:c.C1482T:p.A494A,MMS19:NM_022362:exon26:c.C2574T:p.A858A,MMS19:NM_001289405:exon27:c.C2574T:p.A858A,MMS19:NM_001351356:exon27:c.C2691T:p.A897A |
RS2152092 |
HDL cholesterol:Differential exon
level expression of MMS19 [probe 3302377] in peripheral blood mononuclear
cells:Gene expression of MMS19 [probe 3302360] in peripheral blood
mononuclear cells:Differential exon level expression of MMS19 [probe 3302379]
in peripheral blood mononuclear cells:Differential exon level expression of
MMS19 [probe 3302380] in peripheral blood mononuclear cells:Differential exon
level expression of MMS19 [probe 3302381] in peripheral blood mononuclear
cells:Fasting insulin:Rheumatoid arthritis:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP) |
|
10 |
99240758 |
2 |
MMS19 |
G |
C |
exonic |
nonsynonymous SNV |
MMS19:NM_001289403:exon3:c.C203G:p.A68G,MMS19:NM_001330128:exon3:c.C203G:p.A68G,MMS19:NM_001351356:exon3:c.C203G:p.A68G,MMS19:NM_022362:exon3:c.C203G:p.A68G,MMS19:NM_001289405:exon4:c.C203G:p.A68G |
RS2275586 |
LDL cholesterol |
|
10 |
99358901 |
1 |
HOGA1 |
G |
A |
exonic |
synonymous SNV |
HOGA1:NM_138413:exon3:c.G396A:p.A132A |
|
10 |
99504630 |
2 |
ZFYVE27 |
G |
T |
exonic |
nonsynonymous SNV |
ZFYVE27:NM_001174121:exon2:c.G119T:p.G40V,ZFYVE27:NM_001002261:exon3:c.G413T:p.G138V,ZFYVE27:NM_001174119:exon3:c.G317T:p.G106V,ZFYVE27:NM_001002262:exon4:c.G413T:p.G138V,ZFYVE27:NM_144588:exon4:c.G413T:p.G138V |
RS10882993 |
2 hour glucose |
|
10 |
99969475 |
1 |
R3HCC1L |
A |
C |
exonic |
nonsynonymous SNV |
R3HCC1L:NM_001351016:exon2:c.A1604C:p.D535A,R3HCC1L:NM_001351013:exon3:c.A1604C:p.D535A,R3HCC1L:NM_001256620:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001351012:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001351017:exon4:c.A1604C:p.D535A,R3HCC1L:NM_014472:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001256619:exon5:c.A1604C:p.D535A,R3HCC1L:NM_001351015:exon5:c.A1604C:p.D535A,R3HCC1L:NM_138469:exon5:c.A1604C:p.D535A,R3HCC1L:NM_001351011:exon6:c.A1604C:p.D535A,R3HCC1L:NM_001351014:exon6:c.A1604C:p.D535A,R3HCC1L:NM_001351010:exon7:c.A1604C:p.D535A |
|
10 |
99991408 |
2 |
R3HCC1L |
A |
G |
exonic |
nonsynonymous SNV |
R3HCC1L:NM_001351016:exon3:c.A1925G:p.H642R,R3HCC1L:NM_001256621:exon4:c.A143G:p.H48R,R3HCC1L:NM_001351013:exon4:c.A1925G:p.H642R,R3HCC1L:NM_001256620:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351012:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351017:exon5:c.A1925G:p.H642R,R3HCC1L:NM_014472:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351015:exon6:c.A1925G:p.H642R,R3HCC1L:NM_138469:exon6:c.A1925G:p.H642R,R3HCC1L:NM_001256619:exon7:c.A1967G:p.H656R,R3HCC1L:NM_001351011:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351014:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351010:exon8:c.A1925G:p.H642R |
|
10 |
100013438 |
1 |
LOXL4 |
C |
T |
exonic |
synonymous SNV |
LOXL4:NM_032211:exon11:c.G1707A:p.A569A |
|
10 |
101473218 |
2 |
COX15 |
A |
G |
exonic |
nonsynonymous SNV |
COX15:NM_004376:exon9:c.T1120C:p.F374L |
RS2231687 |
Premature ovarian failure:2 hour
glucose:LDL cholesterol:Height:Systolic blood pressure (SBP) |
|
10 |
101502968 |
1 |
CUTC |
A |
G |
exonic |
synonymous SNV |
CUTC:NM_015960:exon4:c.A252G:p.P84P |
RS3740076 |
Hip bone mineral density
(BMD):Primary rhegmatogenous retinal detachment:Gene expression change of
CUTC (ENSG00000119929) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
10 |
101544447 |
2 |
ABCC2 |
A |
T |
exonic |
nonsynonymous SNV |
ABCC2:NM_000392:exon2:c.A116T:p.Y39F |
|
10 |
101563815 |
1 |
ABCC2 |
G |
A |
exonic |
nonsynonymous SNV |
ABCC2:NM_000392:exon10:c.G1249A:p.V417I |
RS2273697 |
Tardive dyskinesia:Major depressive
disorder:Gene expression of SLC25A28 in peripheral blood monocytes:Gene
expression of SLC25A28 in blood:Gene expression of COX15 in blood |
|
10 |
101604207 |
1 |
ABCC2 |
C |
T |
exonic |
synonymous SNV |
ABCC2:NM_000392:exon28:c.C3972T:p.I1324I |
RS3740066 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Height:Irinotecan-related severe toxicities in
treatment of non-small-cell lung cancer (grade 3 diarrhea):College completion |
|
10 |
101639796 |
1 |
DNMBP |
G |
A |
exonic |
synonymous SNV |
DNMBP:NM_001318326:exon13:c.C3216T:p.S1072S,DNMBP:NM_001318327:exon13:c.C2184T:p.S728S,DNMBP:NM_015221:exon16:c.C4320T:p.S1440S |
RS2255901 |
LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
10 |
101639877 |
1 |
DNMBP |
A |
C |
exonic |
nonsynonymous SNV |
DNMBP:NM_001318326:exon13:c.T3135G:p.C1045W,DNMBP:NM_001318327:exon13:c.T2103G:p.C701W,DNMBP:NM_015221:exon16:c.T4239G:p.C1413W |
RS11190305 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):LDL cholesterol:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:AraC toxicity as measured by
AraC IC50 in lymphoblastoid cell lines:Total cholesterol:LDL
cholesterol:Plasma renin activity:Height:Gene expression of DNMBP [probeset
212838_at] in sputum:College completion:Years of education |
|
10 |
101645498 |
1 |
DNMBP |
T |
C |
exonic |
synonymous SNV |
DNMBP:NM_001318326:exon11:c.A2640G:p.P880P,DNMBP:NM_001318327:exon11:c.A1608G:p.P536P,DNMBP:NM_015221:exon14:c.A3744G:p.P1248P |
RS2490763 |
LDL cholesterol:Height:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
10 |
102684380 |
1 |
SLF2 |
C |
A |
exonic |
nonsynonymous SNV |
SLF2:NM_001136123:exon5:c.C1622A:p.S541Y,SLF2:NM_018121:exon5:c.C1622A:p.S541Y |
RS10883563 |
Gene expression of MRPL43 [probe
230026_at] in lymphoblastoid cell lines:Gene expression of MRPL43 [probe
224332_s_at] in lymphoblastoid cell lines:Total cholesterol change with
statins:Height:Gene expression of KAZALD1 [transcript NM_030929, probe A_23_P421011]
in liver:Gene expression of FAM178A in blood:Gene expression of MRPL43 in
blood:Gene expression of MRPL43///SEMA4G in blood:Gene expression of
SEMA4G///MRPL43 in blood:Refractive error:Gene expression of MRPL43 (probeID
ILMN_1652147) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MRPL43 (probeID ILMN_1652147) in temporal cortex in Alzheimer's
disease cases and controls |
|
10 |
102740673 |
1 |
SEMA4G |
G |
A |
exonic |
nonsynonymous SNV |
SEMA4G:NM_001203244:exon12:c.G1562A:p.R521Q,SEMA4G:NM_017893:exon12:c.G1562A:p.R521Q |
|
10 |
102744376 |
1 |
SEMA4G |
T |
C |
exonic |
nonsynonymous SNV |
SEMA4G:NM_001203244:exon14:c.T1835C:p.M612T |
RS11190780 |
HOMA-IR:Fasting insulin:Total
cholesterol:Lp-PLA2 mass:Body mass index (BMI):Gene expression of PDZD7
[probe ILMN_25299] in osteoblasts treated with dexamethasone:Gene expression
of MRPL43 [probeset 230026_at] in sputum:Hypertension (early onset hypertension):Refractive
error:Infant head circumference |
|
10 |
102748606 |
1 |
TWNK |
C |
T |
exonic |
synonymous SNV |
TWNK:NM_001163812:exon1:c.C639T:p.G213G,TWNK:NM_021830:exon1:c.C639T:p.G213G |
|
10 |
102824349 |
2 |
KAZALD1 |
G |
C |
exonic |
nonsynonymous SNV |
KAZALD1:NM_001319303:exon4:c.G350C:p.G117A,KAZALD1:NM_030929:exon4:c.G764C:p.G255A |
RS807037 |
Cystatin C in serum:Refractive error |
|
10 |
104136469 |
2 |
GBF1 |
T |
C |
exonic |
synonymous SNV |
GBF1:NM_001199378:exon32:c.T4200C:p.I1400I,GBF1:NM_001199379:exon32:c.T4197C:p.I1399I,GBF1:NM_004193:exon32:c.T4197C:p.I1399I |
|
10 |
104159196 |
2 |
NFKB2 |
A |
G |
exonic |
synonymous SNV |
NFKB2:NM_001261403:exon12:c.A1269G:p.P423P,NFKB2:NM_001322935:exon12:c.A1143G:p.P381P,NFKB2:NM_001077494:exon13:c.A1269G:p.P423P,NFKB2:NM_001288724:exon13:c.A1269G:p.P423P,NFKB2:NM_001322934:exon13:c.A1269G:p.P423P,NFKB2:NM_002502:exon13:c.A1269G:p.P423P |
|
10 |
104160434 |
2 |
NFKB2 |
A |
G |
exonic |
synonymous SNV |
NFKB2:NM_001261403:exon16:c.A1821G:p.A607A,NFKB2:NM_001322935:exon16:c.A1695G:p.A565A,NFKB2:NM_001077494:exon17:c.A1821G:p.A607A,NFKB2:NM_001288724:exon17:c.A1821G:p.A607A,NFKB2:NM_001322934:exon17:c.A1821G:p.A607A,NFKB2:NM_002502:exon17:c.A1821G:p.A607A |
|
10 |
104184081 |
2 |
CUEDC2 |
G |
A |
exonic |
synonymous SNV |
CUEDC2:NM_024040:exon5:c.C351T:p.P117P |
RS1044476 |
Gene expression of C10orf95
[transcript NM_024886, probe A_23_P138480] in liver |
|
10 |
104229785 |
1 |
MFSD13A |
C |
T |
exonic |
synonymous SNV |
MFSD13A:NM_024789:exon4:c.C204T:p.P68P |
|
10 |
104231054 |
1 |
MFSD13A |
A |
G |
exonic |
synonymous SNV |
MFSD13A:NM_024789:exon6:c.A729G:p.V243V |
RS11191295 |
Height:Gene expression of SUFU
[transcript NM_016169, probe A_23_P425304] in liver:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Refractive error |
|
10 |
104572963 |
1 |
WBP1L |
T |
C |
exonic |
nonsynonymous SNV |
WBP1L:NM_001083913:exon4:c.T967C:p.S323P,WBP1L:NM_017787:exon4:c.T904C:p.S302P |
RS284860 |
Gene expression of C10orf26 in
CEU-CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:Triglycerides
change with statins:Height:Body mass index (BMI):Bipolar disorder:Gene
expression of C10orf32 (probeID ILMN_2151056) in temporal cortex in
Alzheimer's disease cases and controls:College completion:Coronary artery
disease (CAD):Aortic valve calcium:Gene expression of C10orf32 (probeID
ILMN_2151056) in cerebellum in Alzheimer's disease cases and controls:Obesity
with early age of onset (age >2):Gene expression of C10orf32 in normal
prepouch ileum:Gene expression of AS3MT (probeID ILMN_1771732) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of AS3MT (probeID
ILMN_1771732) in temporal cortex in Alzheimer's disease cases and controls |
|
10 |
104814162 |
1 |
CNNM2 |
T |
C |
exonic |
synonymous SNV |
CNNM2:NM_017649:exon3:c.T1842C:p.S614S,CNNM2:NM_199076:exon3:c.T1842C:p.S614S |
RS2275271 |
Methylation levels at
chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Temporal
cortex:Methylation levels at chr10:104943598-104943648 [hg18 coord, probe
cg00035347] in Caudal pons:Height:Body mass index
(BMI):Microalbuminuria:Bipolar disorder:Coronary artery disease (CAD):Infant
head circumference |
|
10 |
104835919 |
1 |
CNNM2 |
C |
T |
exonic |
synonymous SNV |
CNNM2:NM_199076:exon6:c.C2244T:p.A748A,CNNM2:NM_017649:exon7:c.C2310T:p.A770A |
RS943037 |
Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Microalbuminuria:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Advanced age-related macular
degeneration:Birth weight:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Coronary artery disease
(CAD):Obesity with early age of onset (age >2) |
|
10 |
104849468 |
1 |
NT5C2 |
G |
A |
exonic |
synonymous SNV |
NT5C2:NM_001351181:exon16:c.C1074T:p.D358D,NT5C2:NM_001351174:exon17:c.C1560T:p.D520D,NT5C2:NM_001351183:exon17:c.C1074T:p.D358D,NT5C2:NM_001351191:exon17:c.C1074T:p.D358D,NT5C2:NM_001134373:exon18:c.C1647T:p.D549D,NT5C2:NM_001351176:exon18:c.C1074T:p.D358D,NT5C2:NM_001351180:exon18:c.C1074T:p.D358D,NT5C2:NM_001351192:exon18:c.C1074T:p.D358D,NT5C2:NM_001351194:exon18:c.C933T:p.D311D,NT5C2:NM_001351169:exon19:c.C1647T:p.D549D,NT5C2:NM_001351170:exon19:c.C1671T:p.D557D,NT5C2:NM_001351173:exon19:c.C1671T:p.D557D,NT5C2:NM_001351177:exon19:c.C1074T:p.D358D,NT5C2:NM_001351184:exon19:c.C1074T:p.D358D,NT5C2:NM_001351185:exon19:c.C1074T:p.D358D,NT5C2:NM_001351188:exon19:c.C1074T:p.D358D,NT5C2:NM_001351189:exon19:c.C1074T:p.D358D,NT5C2:NM_001351190:exon19:c.C1074T:p.D358D,NT5C2:NM_001351193:exon19:c.C1074T:p.D358D,NT5C2:NM_012229:exon19:c.C1647T:p.D549D,NT5C2:NM_001351171:exon20:c.C1671T:p.D557D,NT5C2:NM_001351172:exon20:c.C1671T:p.D557D,NT5C2:NM_001351175:exon20:c.C1554T:p.D518D,NT5C2:NM_001351179:exon20:c.C1074T:p.D358D,NT5C2:NM_001351182:exon20:c.C1074T:p.D358D,NT5C2:NM_001351195:exon20:c.C933T:p.D311D,NT5C2:NM_001351197:exon20:c.C1074T:p.D358D,NT5C2:NM_001351178:exon21:c.C1074T:p.D358D,NT5C2:NM_001351186:exon21:c.C1074T:p.D358D,NT5C2:NM_001351196:exon21:c.C933T:p.D311D,NT5C2:NM_001351187:exon22:c.C1074T:p.D358D |
RS3740387 |
Methylation levels at
chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Temporal
cortex:Methylation levels at chr10:104943598-104943648 [hg18 coord, probe
cg00035347] in Frontal cortex:Methylation levels at chr10:104943598-104943648
[hg18 coord, probe cg00035347] in Caudal pons:Height:Body mass index
(BMI):Bipolar disorder:Advanced age-related macular degeneration:Coronary
artery disease (CAD):Infant head circumference |
|
10 |
105194086 |
2 |
PDCD11 |
C |
T |
exonic |
nonsynonymous SNV |
PDCD11:NM_014976:exon24:c.C3646T:p.L1216F |
RS2986014 |
Gene expression of USMG5 in JPT
lymphoblastoid cell lines:Gene expression of USMG5 in blood cells in Celiac
disease:Differential exon level expression of USMG5 [probe 3304753] in
peripheral blood mononuclear cells:Gene expression of USMG5 [probe ILMN_10409]
in osteoblasts:Cystatin C in serum:Gene expression of FREM1 in peripheral
blood monocytes:Gene expression of USMG5 in peripheral blood monocytes:Gene
expression of USMG5 in CD4+ lymphocytes:Waist hip ratio:T-cell recognition in
leukemia patients (minor histocompatibility antigens):Gene expression of
RP11-792D24.4///hsa-mir in blood:Gene expression of hsa-miR-1307 in abdominal
adipose:Gene expression of USMG5 in liver:Gene expression of USMG5 (probeID
ILMN_1773313) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression change of PDCD11 (ENSG00000148843)
in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression
of USMG5 (probeID ILMN_1773313) in cerebellum in non-Alzheimer's disease
samples:Gene expression of USMG5 (probeID ILMN_1773313) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of USMG5 (probeID
ILMN_1773313) in cerebellum in Alzheimer's disease cases:Gene expression of
USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's disease
cases:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in
Alzheimer's disease cases and controls |
|
10 |
105205302 |
2 |
PDCD11 |
A |
C |
exonic |
nonsynonymous SNV |
PDCD11:NM_014976:exon36:c.A5612C:p.D1871A |
RS7831 |
Gene expression of USMG5 in CHB-JPT
lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:HDL
cholesterol:Cystatin C in serum:Serum creatinine:Gene expression of USMG5 in
peripheral blood monocytes:Waist hip ratio:Systolic blood pressure (SBP):Gene
expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of USMG5 (probeID ILMN_1773313) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of USMG5
(probeID ILMN_1773313) in whole blood |
|
10 |
105361816 |
2 |
SH3PXD2A |
T |
G |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I |
|
10 |
105362104 |
1 |
SH3PXD2A |
G |
A |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.C2787T:p.F929F |
RS11191741 |
LDL cholesterol:Fasting blood
glucose:Height:Urinary albumin-to-creatinine ratio:Bipolar disorder:Major
depressive disorder and bipolar disorder combined analysis |
|
10 |
105362209 |
2 |
SH3PXD2A |
T |
C |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K |
RS4917396 |
Fasting blood
glucose:Microalbuminuria:Urinary albumin-to-creatinine ratio:Parkinson's
disease |
|
10 |
105657316 |
2 |
STN1 |
G |
C |
exonic |
nonsynonymous SNV |
STN1:NM_024928:exon7:c.C743G:p.S248C |
RS10786775 |
Height in controls:HOMA-B:Fasting
insulin:HOMA-IR:Leukocyte telomere length:HDL
cholesterol:Triglycerides:Height:Systolic blood pressure (SBP):Diastolic
blood pressure (DBP):PROP taste detection threshold:Parkinson's
disease:College completion:Coronary artery disease (CAD) |
|
10 |
105657363 |
2 |
STN1 |
C |
G |
exonic |
synonymous SNV |
STN1:NM_024928:exon7:c.G696C:p.V232V |
RS11191853 |
Total cholesterol |
|
10 |
105763026 |
2 |
SLK |
C |
T |
exonic |
nonsynonymous SNV |
SLK:NM_001304743:exon9:c.C2090T:p.T697I,SLK:NM_014720:exon9:c.C2090T:p.T697I |
RS3740469 |
High-grade glioma:Gene expression
of [probe 1740192 centered at chr10:105627561] in blood:Sporadic
Creutzfeldt-Jakob disease:Parkinson's disease:College completion:Hypertension
(early onset hypertension) |
|
10 |
106022789 |
2 |
GSTO1 |
C |
A |
exonic |
nonsynonymous SNV |
GSTO1:NM_001191003:exon4:c.C335A:p.A112D,GSTO1:NM_004832:exon4:c.C419A:p.A140D |
RS4925 |
Gene expression of GSTO2 probe
[GI_38016130-S] in brain cortex with no Alzheimer's interaction:Major
depressive disorder:HDL cholesterol change with statins:Neuroblastoma (brain
cancer):Gene expression of GSTO1 in blood:Gene expression of ITPRIP in blood:Gene
expression of GSTO2 in blood:Bipolar disorder:Gene expression of GSTO2 in
liver:Gene expression of C10orf79 (ENSG00000197748) in dendritic
cells:Paternal transmission distortion:Transmission distortion:Gene
expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of GSTO2 (probeID ILMN_1740234) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
GSTO2 (probeID ILMN_1740234) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of GSTO2 (probeID
ILMN_1740234) in cerebellum in non-Alzheimer's disease samples:Gene
expression of GSTO2 (probeID ILMN_1740234) in cerebellum in Alzheimer's
disease cases:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal
cortex in Alzheimer's disease cases:Gene expression change of ITPRIP
(ENSG00000148841) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
10 |
106039185 |
2 |
GSTO2 |
A |
G |
exonic |
nonsynonymous SNV |
GSTO2:NM_001191014:exon3:c.A340G:p.N114D,GSTO2:NM_183239:exon5:c.A424G:p.N142D |
RS156697 |
Lung function, mean forced vital
capacity (FVC):Gene expression of AK097894 in liver:Gene expression of GSTO2
in liver:Triglycerides:Bipolar disorder:Gene expression of GSTO2 probe
[GI_38016130-S] in brain cortex with no Alzheimer's interaction:HDL cholesterol
change with statins:Gene expression of GSTO2 in Frontal cortex:Gene
expression of GSTO2 in peripheral blood monocytes:HDL cholesterol:Gene
expression of ITPRIP in blood:Gene expression of GSTO2 in blood:Gene
expression of GSTO1 in blood:Sporadic Creutzfeldt-Jakob disease:Gene
expression of GSTO2 in liver:Gene expression of GSTO2 (probeID ILMN_1740234)
in temporal cortex in Alzheimer's disease cases:Gene expression of GSTO2
(probeID ILMN_1740234) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of GSTO2 (probeID ILMN_1740234) in cerebellum in non-Alzheimer's
disease samples:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of GSTO2
(probeID ILMN_1740234) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in
Alzheimer's disease cases:Gene expression of GSTO2 (probeID ILMN_1740234) in
temporal cortex in Alzheimer's disease cases and controls |
|
10 |
112361870 |
2 |
SMC3 |
A |
G |
exonic |
synonymous SNV |
SMC3:NM_005445:exon25:c.A3039G:p.S1013S |
RS2419565 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
10 |
112641053 |
2 |
PDCD4 |
A |
G |
exonic |
nonsynonymous SNV |
PDCD4:NM_001199492:exon3:c.A64G:p.I22V,PDCD4:NM_014456:exon3:c.A106G:p.I36V,PDCD4:NM_145341:exon4:c.A73G:p.I25V |
RS7081726 |
Gene expression of PDCD4 (probeID
ILMN_2396272) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PDCD4 (probeID ILMN_2396272) in temporal cortex in Alzheimer's
disease cases and controls:Transmission distortion:Adiponectin levels |
|
10 |
113917085 |
2 |
GPAM |
T |
A |
exonic |
synonymous SNV |
GPAM:NM_001244949:exon19:c.A2043T:p.P681P,GPAM:NM_020918:exon19:c.A2043T:p.P681P |
RS2254537 |
HDL cholesterol:Triglycerides:LDL
cholesterol:Fasting blood glucose:Triglycerides:Total cholesterol:HDL
cholesterol:LDL cholesterol |
|
10 |
113920465 |
1 |
GPAM |
G |
A |
exonic |
synonymous SNV |
GPAM:NM_001244949:exon16:c.C1656T:p.N552N,GPAM:NM_020918:exon16:c.C1656T:p.N552N |
RS2277207 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Autism:Autism with verbal
ability:HDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of
GPAM in normal prepouch ileum |
|
10 |
113926224 |
1 |
GPAM |
A |
G |
exonic |
nonsynonymous SNV |
GPAM:NM_001244949:exon12:c.T1157C:p.I386T,GPAM:NM_020918:exon12:c.T1157C:p.I386T |
|
10 |
113935379 |
1 |
GPAM |
T |
C |
exonic |
nonsynonymous SNV |
GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G |
RS10787428 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Autism:Autism with verbal
ability:HDL cholesterol:Total cholesterol:LDL cholesterol:Refractive
error:Gene expression of GPAM in normal prepouch ileum |
|
10 |
113940329 |
2 |
GPAM |
T |
C |
exonic |
nonsynonymous SNV |
GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V |
RS2792751 |
Triglycerides:HDL cholesterol:LDL
cholesterol:Triglycerides:HDL cholesterol:Total cholesterol:LDL
cholesterol:Sporadic Creutzfeldt-Jakob disease:Gene expression of GPAM in
normal prepouch ileum |
|
10 |
114053546 |
2 |
TECTB |
C |
G |
exonic |
synonymous SNV |
TECTB:NM_058222:exon5:c.C534G:p.S178S |
RS726009 |
Bipolar disorder:Triglycerides |
|
10 |
115489152 |
1 |
CASP7 |
C |
G |
exonic |
nonsynonymous SNV |
CASP7:NM_001267058:exon6:c.C690G:p.D230E,CASP7:NM_001227:exon7:c.C765G:p.D255E,CASP7:NM_001267056:exon7:c.C765G:p.D255E,CASP7:NM_001267057:exon7:c.C1020G:p.D340E,CASP7:NM_001320911:exon7:c.C789G:p.D263E,CASP7:NM_033338:exon8:c.C864G:p.D288E,CASP7:NM_033339:exon8:c.C765G:p.D255E,CASP7:NM_033340:exon8:c.C731G:p.T244S |
RS2227310 |
Gene expression of CASP7 in
peripheral blood monocytes:Waist hip ratio:Comorbid depressive syndrome and
alcohol dependence:Gene expression of CASP7 in normal prepouch ileum |
|
10 |
115489167 |
1 |
CASP7 |
G |
A |
exonic |
nonsynonymous SNV |
CASP7:NM_033340:exon8:c.G746A:p.R249K |
RS2227309 |
Waist hip ratio:Comorbid depressive
syndrome and alcohol dependence:Gene expression of CASP7 (ENSG00000165806) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
CASP7 in normal prepouch ileum |
|
10 |
115609915 |
1 |
DCLRE1A |
C |
G |
exonic |
nonsynonymous SNV |
DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H |
RS3750898 |
LDL cholesterol:Triglycerides |
|
10 |
115664626 |
1 |
NHLRC2 |
A |
G |
exonic |
synonymous SNV |
NHLRC2:NM_198514:exon10:c.A1755G:p.V585V |
|
10 |
116602805 |
1 |
FAM160B1 |
A |
G |
exonic |
synonymous SNV |
FAM160B1:NM_001135051:exon6:c.A636G:p.E212E,FAM160B1:NM_020940:exon6:c.A636G:p.E212E |
RS17092491 |
HDL cholesterol:HDL
cholesterol:Aortic valve calcium |
|
10 |
116719543 |
1 |
TRUB1 |
G |
A |
exonic |
nonsynonymous SNV |
TRUB1:NM_139169:exon4:c.G500A:p.R167K |
RS7099565 |
Irritible bowel syndrome:Tardive
dyskinesia:Major depressive disorder:HDL cholesterol |
|
10 |
119043554 |
1 |
PDZD8 |
C |
T |
exonic |
nonsynonymous SNV |
PDZD8:NM_173791:exon5:c.G2690A:p.R897Q |
RS363294 |
HOMA-B:Alcohol dependence:Comorbid
depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob
disease:Gene expression of PDZD8 in normal prepouch ileum:Advanced
age-related macular degeneration (geographic atrophy) |
|
10 |
119133968 |
1 |
PDZD8 |
G |
C |
exonic |
synonymous SNV |
PDZD8:NM_173791:exon1:c.C771G:p.S257S |
RS3814230 |
HDL cholesterol change with
statins:LDL cholesterol |
|
10 |
119134058 |
1 |
PDZD8 |
T |
C |
exonic |
synonymous SNV |
PDZD8:NM_173791:exon1:c.A681G:p.G227G |
|
10 |
119768551 |
2 |
RAB11FIP2 |
C |
T |
exonic |
synonymous SNV |
RAB11FIP2:NM_014904:exon5:c.G1497A:p.P499P,RAB11FIP2:NM_001330167:exon6:c.G1557A:p.P519P |
RS7923321 |
Systolic blood pressure
(SBP):Obesity with early age of onset (age >2) |
|
10 |
120828969 |
1 |
EIF3A |
A |
G |
exonic |
synonymous SNV |
EIF3A:NM_003750:exon6:c.T939C:p.D313D |
RS7908387 |
Triglycerides:LDL cholesterol change
with statins |
|
10 |
120933324 |
2 |
PRDX3 |
G |
A |
exonic |
synonymous SNV |
PRDX3:NM_001302272:exon4:c.C372T:p.D124D,PRDX3:NM_006793:exon4:c.C372T:p.D124D |
|
10 |
121429633 |
1 |
BAG3 |
T |
C |
exonic |
nonsynonymous SNV |
BAG3:NM_004281:exon2:c.T451C:p.C151R |
RS2234962 |
Alzheimer's disease:HOMA-B:Total
cholesterol:LDL cholesterol:Height:Sporadic dilated cardiomyopathy:Sporadic
dilated cardiomyopathy (female):Sporadic dilated cardiomyopathy (male):Gene
expression of INPP5F///RP11-198M6.3 in blood:Diastolic blood pressure
(DBP):Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines |
|
10 |
121436362 |
1 |
BAG3 |
A |
G |
exonic |
synonymous SNV |
BAG3:NM_004281:exon4:c.A1296G:p.V432V |
RS196295 |
Triglycerides:Total cholesterol
change with statins:Cystatin C in serum:Height:Urinary albumin-to-creatinine
ratio:Adiponectin levels |
|
10 |
121586827 |
1 |
INPP5F |
A |
G |
exonic |
synonymous SNV |
INPP5F:NM_001243194:exon6:c.A1104G:p.R368R,INPP5F:NM_014937:exon20:c.A2934G:p.R978R |
|
10 |
121596498 |
1 |
MCMBP |
C |
T |
exonic |
synonymous SNV |
MCMBP:NM_001256378:exon13:c.G1452A:p.Q484Q,MCMBP:NM_001256379:exon13:c.G933A:p.Q311Q,MCMBP:NM_024834:exon13:c.G1458A:p.Q486Q |
|
10 |
121679013 |
2 |
SEC23IP |
A |
G |
exonic |
nonsynonymous SNV |
SEC23IP:NM_007190:exon11:c.A1930G:p.K644E |
RS2475298 |
LDL
cholesterol:TrailsA:TrailsB:Height:Gene expression of C10orf119 (probeID
ILMN_1761411) in temporal cortex in Alzheimer's disease cases and
controls:Parkinson's disease:Gene expression of C10orf119 (probeID
ILMN_1761411) in cerebellum in Alzheimer's disease cases and controls |
|
10 |
122624679 |
1 |
WDR11 |
G |
A |
exonic |
synonymous SNV |
WDR11:NM_018117:exon6:c.G834A:p.T278T |
RS10886789 |
Fasting insulin:Urinary
albumin-to-creatinine ratio |
|
10 |
122645376 |
1 |
WDR11 |
A |
T |
exonic |
synonymous SNV |
WDR11:NM_018117:exon15:c.A1899T:p.A633A |
RS7899928 |
Gene expression of BRWD2 [probe
229694_at] in lymphoblastoid cell lines:Triglycerides |
|
10 |
122663585 |
2 |
WDR11 |
G |
A |
exonic |
synonymous SNV |
WDR11:NM_018117:exon24:c.G2958A:p.L986L |
|
10 |
123596254 |
2 |
ATE1 |
T |
C |
exonic |
synonymous SNV |
ATE1:NM_001288735:exon8:c.A948G:p.S316S,ATE1:NM_001288734:exon9:c.A891G:p.S297S,ATE1:NM_001001976:exon10:c.A1236G:p.S412S,ATE1:NM_001288736:exon10:c.A1215G:p.S405S,ATE1:NM_007041:exon10:c.A1236G:p.S412S |
RS4237536 |
Aortic valve calcium:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
10 |
123673339 |
2 |
ATE1 |
T |
C |
exonic |
synonymous SNV |
ATE1:NM_001288735:exon2:c.A15G:p.L5L,ATE1:NM_001001976:exon4:c.A303G:p.L101L,ATE1:NM_001288736:exon4:c.A282G:p.L94L,ATE1:NM_007041:exon4:c.A303G:p.L101L |
RS10749435 |
Resistance to kuru in aged women
despite likely exposure:Aortic valve calcium:Duodenal ulcer:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
10 |
123845322 |
2 |
TACC2 |
T |
C |
exonic |
nonsynonymous SNV |
TACC2:NM_001291876:exon4:c.T3307C:p.W1103R,TACC2:NM_001291877:exon4:c.T3307C:p.W1103R,TACC2:NM_206862:exon4:c.T3307C:p.W1103R |
|
10 |
123903133 |
1 |
TACC2 |
G |
A |
exonic |
nonsynonymous SNV |
TACC2:NM_206862:exon7:c.G5746A:p.E1916K |
RS12765679 |
Waist hip ratio:Neuroblastoma (brain
cancer):Advanced age-related macular degeneration |
|
10 |
123996976 |
1 |
TACC2 |
G |
A |
exonic |
nonsynonymous SNV |
TACC2:NM_206860:exon10:c.G2338A:p.A780T,TACC2:NM_001291878:exon11:c.G2374A:p.A792T,TACC2:NM_001291879:exon11:c.G1075A:p.A359T,TACC2:NM_006997:exon11:c.G2428A:p.A810T,TACC2:NM_001291876:exon14:c.G7828A:p.A2610T,TACC2:NM_001291877:exon14:c.G7975A:p.A2659T,TACC2:NM_206861:exon14:c.G2632A:p.A878T,TACC2:NM_206862:exon17:c.G8194A:p.A2732T |
RS2295879 |
Alzheimer's disease |
|
10 |
124089036 |
1 |
BTBD16 |
G |
A |
exonic |
nonsynonymous SNV |
BTBD16:NM_001318189:exon11:c.G956A:p.R319Q,BTBD16:NM_144587:exon11:c.G953A:p.R318Q |
RS2421013 |
HDL cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Gene expression of PLEKHA1
(ENSG00000107679) in dendritic cells treated with Mycobacterium
tuberculosis:Adiponectin levels |
|
10 |
124183732 |
1 |
PLEKHA1 |
T |
C |
exonic |
synonymous SNV |
PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R,PLEKHA1:NM_001330178:exon10:c.T699C:p.R233R |
RS4405249 |
LDL cholesterol:Total
cholesterol:Serum creatinine:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
10 |
124189197 |
1 |
PLEKHA1 |
A |
G |
exonic |
nonsynonymous SNV |
PLEKHA1:NM_001001974:exon12:c.A958G:p.T320A,PLEKHA1:NM_021622:exon12:c.A958G:p.T320A |
RS1045216 |
Triglycerides:Serum
creatinine:Rheumatoid arthritis:Autism without verbal
ability:Height:Age-related macular degeneration:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy):Refractive error |
|
10 |
124610027 |
2 |
FAM24B |
G |
A |
exonic |
nonsynonymous SNV |
FAM24B:NM_001204364:exon3:c.C5T:p.P2L,FAM24B:NM_152644:exon3:c.C5T:p.P2L |
RS1891110 |
Gene expression of C10orf88 in
CHB-JPT lymphoblastoid cell lines:Gene expression of C10orf88 [probe
219240_s_at] in lymphoblastoid cell lines:Schizophrenia:Ischemic stroke:Major
depressive disorder (broad definition) (males):Rheumatoid arthritis:Gene expression
of PSTK in peripheral blood monocytes:LDL cholesterol:Total cholesterol:HDL
cholesterol:Gene expression of FAM24B [transcript NM_152644, probe
A_23_P52531] in liver:Gene expression of RP11-564D11.6 in blood:Years of
education:Aortic valve calcium:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration:College
completion |
|
10 |
124742895 |
2 |
PSTK |
G |
C |
exonic |
nonsynonymous SNV |
PSTK:NM_153336:exon3:c.G616C:p.G206R |
RS3736582 |
HDL cholesterol:Chronic kidney
disease:Total cholesterol:HDL cholesterol:LDL cholesterol:Diastolic blood
pressure (DBP):Obesity with early age of onset (age >2):Aortic valve
calcium:College completion:Infant head circumference:Years of education |
|
10 |
124806770 |
2 |
ACADSB |
A |
G |
exonic |
nonsynonymous SNV |
ACADSB:NM_001330174:exon7:c.A640G:p.I214V,ACADSB:NM_001609:exon8:c.A946G:p.I316V |
|
10 |
126089434 |
1 |
OAT |
G |
A |
exonic |
synonymous SNV |
OAT:NM_001322971:exon7:c.C813T:p.N271N,OAT:NM_001171814:exon8:c.C720T:p.N240N,OAT:NM_000274:exon9:c.C1134T:p.N378N,OAT:NM_001322965:exon9:c.C1134T:p.N378N,OAT:NM_001322974:exon9:c.C534T:p.N178N,OAT:NM_001322966:exon10:c.C1134T:p.N378N,OAT:NM_001322967:exon10:c.C1134T:p.N378N,OAT:NM_001322969:exon10:c.C1134T:p.N378N,OAT:NM_001322968:exon11:c.C1134T:p.N378N,OAT:NM_001322970:exon11:c.C1134T:p.N378N |
RS11461 |
Gene expression of OAT
(ENSG00000065154) in dendritic cells treated with Mycobacterium tuberculosis |
|
10 |
126172863 |
2 |
LHPP |
A |
G |
exonic |
nonsynonymous SNV |
LHPP:NM_001167880:exon2:c.A281G:p.Q94R,LHPP:NM_001318331:exon2:c.A281G:p.Q94R,LHPP:NM_001318332:exon2:c.A281G:p.Q94R,LHPP:NM_022126:exon2:c.A281G:p.Q94R |
RS6597801 |
Stabilized warfarin dose:Rheumatoid
arthritis:Major depressive disorder (broad definition) (males):Waist hip
ratio:Gene expression of LHPP in blood:College completion |
|
10 |
126517989 |
2 |
ABRAXAS2 |
G |
A |
exonic |
synonymous SNV |
ABRAXAS2:NM_032182:exon7:c.G606A:p.V202V |
RS2303611 |
Gene expression of hmm665 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of METTL10 [probe
226631_at] in lymphoblastoid cell lines:Gene expression of METTL10 [probe
226634_at] in lymphoblastoid cell lines:2 hour glucose:Fasting
insulin:HOMA-B:Serum creatinine:Height |
|
10 |
127530325 |
2 |
DHX32 |
T |
C |
exonic |
synonymous SNV |
DHX32:NM_018180:exon7:c.A1530G:p.A510A |
RS3208565 |
LDL cholesterol:Triglycerides:Gene
expression of UROS in Frontal cortex:Infant head circumference |
|
10 |
128798495 |
1 |
DOCK1 |
C |
T |
exonic |
synonymous SNV |
DOCK1:NM_001290223:exon10:c.C909T:p.R303R,DOCK1:NM_001380:exon10:c.C909T:p.R303R |
|
10 |
129216658 |
1 |
DOCK1 |
T |
C |
exonic |
synonymous SNV |
DOCK1:NM_001290223:exon45:c.T4545C:p.I1515I,DOCK1:NM_001380:exon45:c.T4482C:p.I1494I |
RS2229600 |
Microalbuminuria |
|
10 |
129242515 |
2 |
DOCK1 |
G |
A |
exonic |
synonymous SNV |
DOCK1:NM_001290223:exon50:c.G5385A:p.R1795R,DOCK1:NM_001380:exon50:c.G5322A:p.R1774R |
RS11371 |
Serum creatinine:Total
cholesterol:LDL cholesterol:Microalbuminuria |
|
10 |
129249662 |
2 |
DOCK1 |
G |
A |
exonic |
nonsynonymous SNV |
DOCK1:NM_001290223:exon52:c.G5632A:p.A1878T,DOCK1:NM_001380:exon52:c.G5569A:p.A1857T |
RS2229603 |
HDL cholesterol change with
statins:Years of education:College completion |
|
10 |
129249676 |
1 |
DOCK1 |
C |
T |
exonic |
synonymous SNV |
DOCK1:NM_001290223:exon52:c.C5646T:p.S1882S,DOCK1:NM_001380:exon52:c.C5583T:p.S1861S |
|
10 |
129899578 |
1 |
MKI67 |
T |
C |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon13:c.A8569G:p.K2857E,MKI67:NM_002417:exon14:c.A9649G:p.K3217E |
RS8473 |
LDL cholesterol:Tardive
dyskinesia:Gene expression of P2RY6 in peripheral blood monocytes:Waist hip
ratio:Ethanolamine:tau-Methylhistidine |
|
10 |
129899629 |
1 |
MKI67 |
G |
A |
exonic |
synonymous SNV |
MKI67:NM_001145966:exon13:c.C8518T:p.L2840L,MKI67:NM_002417:exon14:c.C9598T:p.L3200L |
|
10 |
129902281 |
1 |
MKI67 |
G |
A |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.C6743T:p.P2248L,MKI67:NM_002417:exon13:c.C7823T:p.P2608L |
RS1063535 |
LDL cholesterol |
|
10 |
129903016 |
1 |
MKI67 |
T |
C |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.A6008G:p.N2003S,MKI67:NM_002417:exon13:c.A7088G:p.N2363S |
|
10 |
129903802 |
1 |
MKI67 |
A |
G |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.T5222C:p.I1741T,MKI67:NM_002417:exon13:c.T6302C:p.I2101T |
RS11016073 |
Eye color:Premature ovarian
failure:Tardive dyskinesia:Gene expression of PTPRE in blood:Bipolar disorder |
|
10 |
129904560 |
1 |
MKI67 |
C |
T |
exonic |
synonymous SNV |
MKI67:NM_001145966:exon12:c.G4464A:p.T1488T,MKI67:NM_002417:exon13:c.G5544A:p.T1848T |
|
10 |
129906427 |
1 |
MKI67 |
C |
A |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.G2597T:p.G866V,MKI67:NM_002417:exon13:c.G3677T:p.G1226V |
|
10 |
129906674 |
1 |
MKI67 |
T |
C |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.A2350G:p.K784E,MKI67:NM_002417:exon13:c.A3430G:p.K1144E |
|
10 |
129907489 |
1 |
MKI67 |
G |
A |
exonic |
nonsynonymous SNV |
MKI67:NM_001145966:exon12:c.C1535T:p.A512V,MKI67:NM_002417:exon13:c.C2615T:p.A872V |
RS2853344 |
Barnes Akathisia Rating Scale:Gene
expression of PTPRE in blood:Bipolar disorder:Salmonella-induced pyroptosis |
|
10 |
129913960 |
1 |
MKI67 |
A |
T |
exonic |
nonsynonymous SNV |
MKI67:NM_002417:exon7:c.T712A:p.W238R |
RS7095325 |
LDL cholesterol |
|
10 |
131934747 |
1 |
GLRX3 |
G |
C |
exonic |
nonsynonymous SNV |
GLRX3:NM_001199868:exon1:c.G63C:p.Q21H,GLRX3:NM_006541:exon1:c.G63C:p.Q21H |
RS13991 |
PROP taste detection
threshold:Proteomic variation in lymphoblastoid cell lines (Protein: GLRX3,
Spot: 1505):Proteomic variation in lymphoblastoid cell lines (Protein: GLRX3,
Spot: 1509) |
|
10 |
131959150 |
1 |
GLRX3 |
C |
T |
exonic |
nonsynonymous SNV |
GLRX3:NM_001199868:exon4:c.C367T:p.P123S,GLRX3:NM_006541:exon4:c.C367T:p.P123S |
RS2274217 |
PROP taste detection threshold:Gene
expression of GLRX3 in normal prepouch ileum |
|
10 |
132826404 |
2 |
|
10 |
134161517 |
1 |
LRRC27 |
C |
T |
exonic |
nonsynonymous SNV |
LRRC27:NM_001309474:exon5:c.C202T:p.R68C,LRRC27:NM_001143757:exon6:c.C583T:p.R195C,LRRC27:NM_001143758:exon6:c.C583T:p.R195C,LRRC27:NM_001143759:exon6:c.C583T:p.R195C,LRRC27:NM_030626:exon6:c.C583T:p.R195C |
RS2474329 |
Rheumatoid arthritis:LDL
cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of STK32C in
blood:Comorbid depressive syndrome and alcohol dependence:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
10 |
134161633 |
2 |
LRRC27 |
A |
G |
exonic |
synonymous SNV |
LRRC27:NM_001309474:exon5:c.A318G:p.P106P,LRRC27:NM_001143757:exon6:c.A699G:p.P233P,LRRC27:NM_001143758:exon6:c.A699G:p.P233P,LRRC27:NM_001143759:exon6:c.A699G:p.P233P,LRRC27:NM_030626:exon6:c.A699G:p.P233P |
|
10 |
134165215 |
1 |
LRRC27 |
G |
A |
exonic |
nonsynonymous SNV |
LRRC27:NM_001309474:exon6:c.G650A:p.R217Q,LRRC27:NM_001143757:exon7:c.G1031A:p.R344Q,LRRC27:NM_001143758:exon7:c.G1031A:p.R344Q,LRRC27:NM_030626:exon7:c.G1031A:p.R344Q,LRRC27:NM_001143759:exon8:c.G1126A:p.E376K |
|
10 |
134459388 |
1 |
INPP5A |
A |
G |
exonic |
nonsynonymous SNV |
INPP5A:NM_005539:exon3:c.A134G:p.K45R |
RS1133400 |
Partial epilepsy:Birth weight |
|
10 |
134523914 |
1 |
INPP5A |
G |
A |
exonic |
nonsynonymous SNV |
INPP5A:NM_001321042:exon5:c.G409A:p.V137M,INPP5A:NM_005539:exon8:c.G601A:p.V201M |
|
10 |
135097434 |
2 |
TUBGCP2 |
A |
G |
exonic |
synonymous SNV |
TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F |
|
10 |
135098672 |
2 |
TUBGCP2 |
G |
A |
exonic |
synonymous SNV |
TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y |
RS3008334 |
Gene expression of TUBGCP2 in
peripheral blood monocytes |
|
10 |
135165790 |
2 |
PRAP1 |
A |
G |
exonic |
nonsynonymous SNV |
PRAP1:NM_001145201:exon5:c.A275G:p.H92R,PRAP1:NM_145202:exon5:c.A302G:p.H101R |
|
10 |
135180430 |
2 |
ECHS1 |
A |
G |
exonic |
synonymous SNV |
ECHS1:NM_004092:exon5:c.T582C:p.T194T |
|
10 |
135184126 |
2 |
ECHS1 |
G |
A |
exonic |
nonsynonymous SNV |
ECHS1:NM_004092:exon2:c.C224T:p.T75I |
RS1049951 |
LDL cholesterol:Total
cholesterol:Systolic blood pressure (SBP):Hypertension (early onset
hypertension):Adiponectin levels:Refractive error:Salmonella-induced
pyroptosis |
|
10 |
135186806 |
2 |
ECHS1 |
A |
G |
exonic |
nonsynonymous SNV |
ECHS1:NM_004092:exon1:c.T32C:p.V11A |
|
10 |
135204950 |
2 |
PAOX |
C |
G |
exonic |
nonsynonymous SNV |
PAOX:NM_207128:exon6:c.C1369G:p.Q457E |
RS1046175 |
Gene expression of PAOX
(ENSG00000148832) in dendritic cells treated with Mycobacterium tuberculosis |
|
10 |
135205009 |
2 |
PAOX |
C |
G |
exonic |
synonymous SNV |
PAOX:NM_207128:exon6:c.C1428G:p.P476P |
RS1046178 |
Triglycerides:HDL cholesterol:Serum
creatinine |
|
10 |
135233541 |
2 |
MTG1 |
A |
G |
exonic |
nonsynonymous SNV |
MTG1:NM_138384:exon11:c.A877G:p.I293V |
|
11 |
237087 |
2 |
PSMD13 |
A |
G |
exonic |
nonsynonymous SNV |
PSMD13:NM_002817:exon1:c.A38G:p.N13S,PSMD13:NM_175932:exon1:c.A38G:p.N13S |
RS1045288 |
Irritible bowel syndrome:Gene
expression of PSMD13 [probe 3315549] in peripheral blood mononuclear
cells:Differential exon level expression of PSMD13 [probe 3315556] in
peripheral blood mononuclear cells:Differential exon level expression of
PSMD13 [probe 3315577] in peripheral blood mononuclear cells:Differential
exon level expression of PSMD13 [probe 3315555] in peripheral blood
mononuclear cells:Differential exon level expression of PSMD13 [probe
3315559] in peripheral blood mononuclear cells:Differential exon level
expression of PSMD13 [probe 3315564] in peripheral blood mononuclear
cells:Differential exon level expression of PSMD13 [probe 3315552] in
peripheral blood mononuclear cells:Differential exon level expression of
RIC8A [probe 3315519] in peripheral blood mononuclear cells:Differential exon
level expression of RIC8A [probe 3315520] in peripheral blood mononuclear
cells:Gene expression of RIC8A [probe 3315512] in peripheral blood
mononuclear cells:Differential exon level expression of PSMD13 [probe
3315562] in peripheral blood mononuclear cells:Differential exon level
expression of PSMD13 [probe 3315552] in brain cortex:Gene expression of
PSMD13 [probe 3315549] in brain cortex:Differential exon level expression of
PSMD13 [probe 3315562] in brain cortex:Differential exon level expression of
PSMD13 [probe 3315572] in peripheral blood mononuclear cells:Differential
exon level expression of PSMD13 [probe 3315551] in peripheral blood
mononuclear cells:Differential exon level expression of RIC8A [probe 3315532]
in peripheral blood mononuclear cells:Differential exon level expression of
RIC8A [probe 3315525] in peripheral blood mononuclear cells:Differential exon
level expression of PSMD13 [probe 3315576] in peripheral blood mononuclear
cells:Differential exon level expression of RIC8A [probe 3315535] in
peripheral blood mononuclear cells:Differential exon level expression of
RIC8A [probe 3315523] in peripheral blood mononuclear cells:Differential exon
level expression of RIC8A [probe 3315531] in peripheral blood mononuclear
cells:Differential exon level expression of PSMD13 [probe 3315555] in brain
cortex:Differential exon level expression of PSMD13 [probe 3315556] in brain
cortex:Differential exon level expression of RIC8A [probe 3315522] in
peripheral blood mononuclear cells:Differential exon level expression of
RIC8A [probe 3315533] in peripheral blood mononuclear cells:Partial
epilepsy:Height:Gene expression of RIC8A///SIRT3 in blood:Gene expression of
PSMD13 in blood:Gene expression of ENST00000332865///BET1L in blood:Gene
expression of ATHL1 in blood:Gene expression of BET1L in normal prepouch
ileum:Hypertension (early onset hypertension):Gene expression of RIC8A in
normal prepouch ileum:Gene expression of PSMD13 in normal prepouch ileum |
|
11 |
290816 |
2 |
PGGHG |
A |
G |
exonic |
synonymous SNV |
PGGHG:NM_025092:exon4:c.A609G:p.A203A |
RS10902120 |
LDL cholesterol change with
statins:Rheumatoid arthritis:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Infant head circumference |
|
11 |
293188 |
2 |
PGGHG |
T |
C |
exonic |
synonymous SNV |
PGGHG:NM_025092:exon8:c.T1296C:p.H432H |
RS12801980 |
Gene expression of FLJ22635 in JPT
lymphoblastoid cell lines:Birth weight |
|
11 |
308290 |
2 |
IFITM2 |
T |
C |
exonic |
nonsynonymous SNV |
IFITM2:NM_006435:exon1:c.T98C:p.V33A |
RS1058900 |
HOMA-B:Fasting insulin:Serum
creatinine:Infant head circumference |
|
11 |
308314 |
2 |
IFITM2 |
T |
C |
exonic |
nonsynonymous SNV |
IFITM2:NM_006435:exon1:c.T122C:p.M41T |
RS14408 |
Serum creatinine:HDL
cholesterol:Infant head circumference |
|
11 |
308363 |
2 |
IFITM2 |
G |
C |
exonic |
synonymous SNV |
IFITM2:NM_006435:exon1:c.G171C:p.V57V |
|
11 |
309127 |
2 |
IFITM2 |
A |
G |
exonic |
nonsynonymous SNV |
IFITM2:NM_006435:exon2:c.A361G:p.I121V |
|
11 |
314207 |
2 |
IFITM1 |
C |
G |
exonic |
nonsynonymous SNV |
IFITM1:NM_003641:exon1:c.C37G:p.P13A |
|
11 |
320649 |
1 |
IFITM3 |
G |
A |
exonic |
synonymous SNV |
IFITM3:NM_021034:exon1:c.C165T:p.P55P |
|
11 |
379598 |
2 |
B4GALNT4 |
A |
G |
exonic |
synonymous SNV |
B4GALNT4:NM_178537:exon15:c.A2385G:p.E795E |
|
11 |
400109 |
2 |
PKP3 |
A |
G |
exonic |
synonymous SNV |
PKP3:NM_007183:exon6:c.A1416G:p.A472A,PKP3:NM_001303029:exon7:c.A1461G:p.A487A |
|
11 |
428489 |
2 |
ANO9 |
T |
C |
exonic |
nonsynonymous SNV |
ANO9:NM_001347882:exon12:c.A739G:p.I247V,ANO9:NM_001012302:exon13:c.A1171G:p.I391V |
RS10794324 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Differential exon level expression of
RNH1 [probe 3358051] in brain cortex:AraC toxicity as measured by AraC IC50
in lymphoblastoid cell lines:Serum creatinine:LDL cholesterol:Gene expression
of IFITM3 in blood:Gene expression of SIGIRR in blood:Gene expression of ANO9
in blood |
|
11 |
433387 |
2 |
ANO9 |
A |
G |
exonic |
nonsynonymous SNV |
ANO9:NM_001012302:exon4:c.T277C:p.F93L |
|
11 |
551753 |
2 |
LRRC56 |
G |
A |
exonic |
nonsynonymous SNV |
LRRC56:NM_198075:exon10:c.G899A:p.R300H |
|
11 |
554214 |
2 |
LRRC56 |
G |
C |
exonic |
nonsynonymous SNV |
LRRC56:NM_198075:exon14:c.G1567C:p.D523H |
RS10902171 |
Gene expression of DRD4 [transcript
NM_000797, probe A_23_P150162] in liver:Birth weight |
|
11 |
556521 |
2 |
LMNTD2 |
C |
G |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon9:c.G1044C:p.P348P |
|
11 |
556857 |
2 |
LMNTD2 |
G |
C |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon8:c.C954G:p.G318G |
|
11 |
557989 |
2 |
LMNTD2 |
C |
T |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q |
|
11 |
654043 |
2 |
DEAF1 |
G |
A |
exonic |
synonymous SNV |
DEAF1:NM_001293634:exon10:c.C1287T:p.C429C,DEAF1:NM_021008:exon11:c.C1512T:p.C504C |
RS10902188 |
Total cholesterol:Body mass index
(BMI) |
|
11 |
720197 |
2 |
EPS8L2 |
C |
T |
exonic |
synonymous SNV |
EPS8L2:NM_022772:exon5:c.C301T:p.L101L |
RS3087546 |
Comorbid depressive syndrome and
alcohol dependence:PROP taste detection threshold:Gene expression change of
TALDO1 (ENSG00000177156) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
11 |
721570 |
2 |
EPS8L2 |
C |
T |
exonic |
synonymous SNV |
EPS8L2:NM_022772:exon10:c.C774T:p.I258I |
RS7635 |
Gene expression of NS3BP in normal
prepouch ileum |
|
11 |
771034 |
2 |
GATD1 |
A |
G |
exonic |
synonymous SNV |
GATD1:NM_001318822:exon5:c.T357C:p.T119T,GATD1:NM_001318818:exon6:c.T465C:p.T155T,GATD1:NM_001318820:exon6:c.T507C:p.T169T,GATD1:NM_001318823:exon6:c.T465C:p.T155T,GATD1:NM_001318824:exon6:c.T507C:p.T169T,GATD1:NM_001318821:exon7:c.T615C:p.T205T,GATD1:NM_182612:exon7:c.T615C:p.T205T |
RS7930569 |
Alcohol dependence:Gene expression
of NS3BP in normal prepouch ileum |
|
11 |
772490 |
2 |
GATD1 |
G |
A |
exonic |
synonymous SNV |
GATD1:NM_001318822:exon3:c.C129T:p.A43A,GATD1:NM_001318818:exon4:c.C237T:p.A79A,GATD1:NM_001318820:exon4:c.C279T:p.A93A,GATD1:NM_001318823:exon4:c.C237T:p.A79A,GATD1:NM_001318824:exon4:c.C279T:p.A93A,GATD1:NM_001318821:exon5:c.C387T:p.A129A,GATD1:NM_182612:exon5:c.C387T:p.A129A |
RS12224894 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of NS3BP in normal prepouch
ileum |
|
11 |
802379 |
2 |
PIDD1 |
T |
C |
exonic |
nonsynonymous SNV |
PIDD1:NM_145886:exon6:c.A992G:p.Q331R,PIDD1:NM_145887:exon6:c.A992G:p.Q331R |
RS10902221 |
Gene expression of NS3BP [probe
1553943_at] in lymphoblastoid cell lines:Schizophrenia:Gene expression of
NS3BP [probe 3316234] in brain cortex:Fasting blood glucose:Methylation
levels at chr11:795726-795776 [hg18 coord, probe cg20225915] in Temporal cortex:Methylation
levels at chr11:795726-795776 [hg18 coord, probe cg20225915] in Caudal
pons:Variant Creutzfeldt-Jakob disease:Gene expression of TALDO1
(ENSG00000177156) in dendritic cells:Parkinson's disease |
|
11 |
804212 |
2 |
PIDD1 |
C |
A |
exonic |
synonymous SNV |
PIDD1:NM_145886:exon2:c.G177T:p.L59L,PIDD1:NM_145887:exon2:c.G177T:p.L59L |
|
11 |
824789 |
2 |
PNPLA2 |
T |
C |
exonic |
nonsynonymous SNV |
PNPLA2:NM_020376:exon10:c.T1442C:p.L481P |
|
11 |
828916 |
2 |
CRACR2B |
G |
A |
exonic |
nonsynonymous SNV |
CRACR2B:NM_001286606:exon2:c.G230A:p.R77Q,CRACR2B:NM_173584:exon2:c.G230A:p.R77Q |
RS7126805 |
Gene expression of CD151 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CD151 [probe
204306_s_at] in lymphoblastoid cell lines:Gene expression of POLR2L in
liver:Schizophrenia:Gene expression of CD151 [probe 3316344] in peripheral
blood mononuclear cells:Differential exon level expression of CD151 [probe
3316371] in peripheral blood mononuclear cells:Differential exon level
expression of CD151 [probe 3316368] in peripheral blood mononuclear
cells:Gene expression of CD151 in T cells:Gene expression of CD151 in
Fibroblasts:Gene expression of CD151 in Lymphoblastoid cell
lines:HOMA-B:Fasting insulin:HOMA-IR:Cystatin C in serum:Methylation levels
at chr11:831376-831426 [hg18 coord, probe cg11173246] in Temporal
cortex:Methylation levels at chr11:831285-831335 [hg18 coord, probe
cg03116740] in Temporal cortex:Gene expression of CD151 in CD4+
lymphocytes:Asthma:Waist hip ratio:Body mass index (BMI):Gene expression of
CD151 [probe ILMN_138040] in osteoblasts treated with PGE2:Gene expression of
MGC45840 [probe ILMN_13031] in osteoblasts treated with BMP2:Gene expression
of CD151///POLR2L in blood:Gene expression of TSPAN4///AP006623.1 in
blood:Gene expression of CD151 in blood:Gene expression of POLR2L in
blood:Gene expression of EFCAB4A///CD151 in blood:Gene expression of
ENST00000369394///FAM72B in blood:Gene expression of CD151 (probeID
ILMN_1794740) in cerebellum in non-Alzheimer's disease samples:Gene
expression of CD151 (probeID ILMN_1661589) in cerebellum in non-Alzheimer's
disease samples:Gene expression of CD151 (probeID ILMN_1794740) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of CD151
(probeID ILMN_1794740) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of CD151 (probeID ILMN_2326713) in cerebellum in
Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1794740) in
temporal cortex in Alzheimer's disease cases:Gene expression of SLC25A22
(ENSG00000177542) in dendritic cells treated with Mycobacterium tuberculosis:Gene
expression of CD151 (probeID ILMN_1661589) in cerebellum in Alzheimer's
disease cases:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum
in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_2326713)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of CD151 (probeID ILMN_1661589) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of CD151 (probeID ILMN_1661589) in
temporal cortex in Alzheimer's disease cases:Gene expression of CD151
(probeID ILMN_1794740) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of CD151 in normal prepouch ileum:Gene expression of
CD151 (probeID ILMN_1794740) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of CD151 (probeID ILMN_2326713) in temporal cortex in
Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1661589) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression change of
CD151 (ENSG00000177697) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of CD151 (probeID ILMN_1661589) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of CD151
(probeID ILMN_2326713) in cerebellum in non-Alzheimer's disease samples:Gene
expression of CD151 (probeID ILMN_2326713) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of CD151 (probeID ILMN_2326713) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of CD151
(probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases and
controls |
|
11 |
830670 |
2 |
CRACR2B |
G |
T |
exonic |
nonsynonymous SNV |
CRACR2B:NM_001286606:exon6:c.G743T:p.S248I,CRACR2B:NM_173584:exon6:c.G743T:p.S248I |
RS4075289 |
Gene expression of CD151 in CEU
lymphoblastoid cell lines:Gene expression of CD151 in lymphoblastoid cell
lines:HOMA-B:Cystatin C in serum:Methylation levels at chr11:831376-831426
[hg18 coord, probe cg11173246] in Temporal cortex:Methylation levels at chr11:831285-831335
[hg18 coord, probe cg03116740] in Temporal cortex:Body mass index (BMI):Gene
expression of CD151 [transcript NM_139029, probe A_23_P95470] in liver:Gene
expression of CD151 in normal prepouch ileum:Gene expression of CD151
(probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of CD151 (ENSG00000177697) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of CD151 (probeID
ILMN_1661589) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of CD151 (probeID ILMN_1794740) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID
ILMN_1794740) in cerebellum in Alzheimer's disease cases and controls |
|
11 |
837582 |
2 |
CD151 |
G |
A |
exonic |
synonymous SNV |
CD151:NM_001039490:exon6:c.G579A:p.G193G,CD151:NM_139030:exon6:c.G579A:p.G193G,CD151:NM_004357:exon7:c.G579A:p.G193G,CD151:NM_139029:exon7:c.G579A:p.G193G |
RS1130663 |
Gene expression of CD151
(ENSG00000177697) in dendritic cells:Gene expression of CD151 in normal
prepouch ileum |
|
11 |
840477 |
2 |
POLR2L |
A |
G |
exonic |
synonymous SNV |
POLR2L:NM_021128:exon2:c.T99C:p.D33D |
|
11 |
862652 |
2 |
TSPAN4 |
T |
C |
exonic |
synonymous SNV |
TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L |
|
11 |
903070 |
2 |
CHID1 |
G |
C |
exonic |
synonymous SNV |
CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V |
|
11 |
985547 |
2 |
AP2A2 |
C |
T |
exonic |
synonymous SNV |
AP2A2:NM_001242837:exon8:c.C930T:p.L310L,AP2A2:NM_012305:exon8:c.C927T:p.L309L |
RS10794358 |
Chronic kidney disease:Serum
creatinine:Gene expression of POLR2L in normal prepouch ileum:Refractive
error:Obesity with early age of onset (age >2) |
|
11 |
1501670 |
2 |
MOB2 |
G |
C |
exonic |
synonymous SNV |
MOB2:NM_001172223:exon3:c.C318G:p.S106S |
RS10742185 |
Obesity with early age of onset (age
>2) |
|
11 |
1502097 |
2 |
MOB2 |
A |
G |
exonic |
synonymous SNV |
MOB2:NM_001172223:exon2:c.T129C:p.P43P |
|
11 |
1857173 |
2 |
SYT8 |
T |
C |
exonic |
nonsynonymous SNV |
SYT8:NM_001290332:exon4:c.T361C:p.C121R,SYT8:NM_001290333:exon4:c.T358C:p.C120R,SYT8:NM_001290334:exon4:c.T355C:p.C119R,SYT8:NM_138567:exon4:c.T358C:p.C120R |
|
11 |
1902768 |
2 |
LSP1 |
G |
A |
exonic |
nonsynonymous SNV |
LSP1:NM_001013253:exon3:c.G112A:p.A38T,LSP1:NM_001013254:exon3:c.G112A:p.A38T,LSP1:NM_001013255:exon3:c.G112A:p.A38T,LSP1:NM_001289005:exon3:c.G112A:p.A38T,LSP1:NM_002339:exon3:c.G298A:p.A100T,LSP1:NM_001242932:exon4:c.G682A:p.A228T |
RS621679 |
Mean arterial pressure |
|
11 |
2424684 |
2 |
TSSC4 |
A |
C |
exonic |
nonsynonymous SNV |
TSSC4:NM_001297659:exon3:c.A821C:p.H274P,TSSC4:NM_005706:exon3:c.A821C:p.H274P,TSSC4:NM_001297658:exon4:c.A821C:p.H274P,TSSC4:NM_001297660:exon4:c.A821C:p.H274P,TSSC4:NM_001297661:exon4:c.A629C:p.H210P |
|
11 |
3661140 |
2 |
ART5 |
T |
C |
exonic |
synonymous SNV |
ART5:NM_001297668:exon2:c.A519G:p.G173G,ART5:NM_053017:exon2:c.A519G:p.G173G,ART5:NM_001079536:exon3:c.A519G:p.G173G |
|
11 |
3723781 |
2 |
NUP98 |
G |
C |
exonic |
nonsynonymous SNV |
NUP98:NM_016320:exon23:c.C3424G:p.Q1142E,NUP98:NM_139132:exon23:c.C3424G:p.Q1142E |
|
11 |
4103524 |
2 |
STIM1 |
A |
G |
exonic |
synonymous SNV |
STIM1:NM_001277961:exon8:c.A1080G:p.Q360Q,STIM1:NM_001277962:exon8:c.A1080G:p.Q360Q,STIM1:NM_003156:exon8:c.A1080G:p.Q360Q |
RS2304891 |
Total cholesterol:LDL
cholesterol:Gene expression of hsa-miR-483-5p in YRI lymphoblastoid cell
lines:Gene expression of RRM1 in blood |
|
11 |
4141132 |
2 |
RRM1 |
C |
A |
exonic |
synonymous SNV |
RRM1:NM_001330193:exon3:c.C184A:p.R62R,RRM1:NM_001318064:exon8:c.C559A:p.R187R,RRM1:NM_001033:exon9:c.C850A:p.R284R |
RS183484 |
Serum creatinine |
|
11 |
4159457 |
2 |
RRM1 |
A |
G |
exonic |
synonymous SNV |
RRM1:NM_001318065:exon13:c.A1209G:p.T403T,RRM1:NM_001330193:exon13:c.A1557G:p.T519T,RRM1:NM_001318064:exon18:c.A1932G:p.T644T,RRM1:NM_001033:exon19:c.A2223G:p.T741T |
|
11 |
4159466 |
2 |
RRM1 |
G |
A |
exonic |
synonymous SNV |
RRM1:NM_001318065:exon13:c.G1218A:p.A406A,RRM1:NM_001330193:exon13:c.G1566A:p.A522A,RRM1:NM_001318064:exon18:c.G1941A:p.A647A,RRM1:NM_001033:exon19:c.G2232A:p.A744A |
|
11 |
5700340 |
2 |
TRIM5 |
T |
C |
exonic |
synonymous SNV |
TRIM5:NM_033034:exon3:c.A477G:p.L159L,TRIM5:NM_033092:exon3:c.A477G:p.L159L,TRIM5:NM_033093:exon3:c.A477G:p.L159L |
RS3740995 |
Total
cholesterol:Triglycerides:Parkinson's disease |
|
11 |
5719667 |
2 |
TRIM22 |
T |
C |
exonic |
synonymous SNV |
TRIM22:NM_001199573:exon4:c.T630C:p.D210D,TRIM22:NM_006074:exon4:c.T642C:p.D214D |
RS2291842 |
Neuroticism:Triglycerides:Body mass
index (BMI):Birth weight |
|
11 |
6239139 |
2 |
FAM160A2 |
A |
G |
exonic |
synonymous SNV |
FAM160A2:NM_001098794:exon9:c.T1677C:p.R559R,FAM160A2:NM_032127:exon9:c.T1719C:p.R573R |
|
11 |
6243804 |
2 |
FAM160A2 |
A |
G |
exonic |
synonymous SNV |
FAM160A2:NM_001098794:exon6:c.T1059C:p.Y353Y,FAM160A2:NM_032127:exon6:c.T1059C:p.Y353Y |
RS3750945 |
Irritible bowel
syndrome:Schizophrenia:HOMA-B:Fasting insulin:Cystatin C in serum:Gene
expression of C11orf42///AC022762.2 in blood:Gene expression of PRKCDBP in
blood:Sporadic Creutzfeldt-Jakob disease |
|
11 |
6520015 |
2 |
DNHD1 |
G |
T |
exonic |
synonymous SNV |
DNHD1:NM_173589:exon2:c.G570T:p.L190L,DNHD1:NM_144666:exon3:c.G570T:p.L190L |
RS11040899 |
Major depressive disorder (narrow
definition) (females):Major depressive disorder (narrow definition) |
|
11 |
6567591 |
2 |
DNHD1 |
C |
T |
exonic |
nonsynonymous SNV |
DNHD1:NM_144666:exon21:c.C5422T:p.R1808C |
|
11 |
6622714 |
2 |
RRP8 |
G |
A |
exonic |
synonymous SNV |
RRP8:NM_015324:exon3:c.C582T:p.N194N |
RS2288283 |
Differential exon level expression
of KIAA0409 [probe 3361014] in brain cortex:Premature ovarian
failure:Triglycerides:Diastolic blood pressure (DBP):Sporadic
Creutzfeldt-Jakob disease |
|
11 |
6629665 |
2 |
ILK |
C |
T |
exonic |
synonymous SNV |
ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H |
|
11 |
6630833 |
2 |
ILK |
G |
A |
exonic |
synonymous SNV |
ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P |
|
11 |
6636106 |
2 |
TPP1 |
T |
A |
exonic |
synonymous SNV |
TPP1:NM_000391:exon12:c.A1542T:p.G514G |
|
11 |
7662732 |
2 |
PPFIBP2 |
C |
T |
exonic |
synonymous SNV |
PPFIBP2:NM_001256569:exon12:c.C969T:p.D323D,PPFIBP2:NM_001256568:exon13:c.C1062T:p.D354D,PPFIBP2:NM_003621:exon16:c.C1398T:p.D466D |
RS4643071 |
Risperidone response in
schizophrenia treatment |
|
11 |
7670440 |
2 |
PPFIBP2 |
A |
G |
exonic |
nonsynonymous SNV |
PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G |
|
11 |
7673015 |
2 |
PPFIBP2 |
G |
A |
exonic |
synonymous SNV |
PPFIBP2:NM_001256569:exon19:c.G1947A:p.E649E,PPFIBP2:NM_001256568:exon20:c.G2040A:p.E680E,PPFIBP2:NM_003621:exon23:c.G2376A:p.E792E |
RS5864 |
Gene expression of CYB5R2 in
peripheral blood monocytes:Biploar disorder (bipolar affective disorder with
comorbid migraine):Allele-specific Expression Patterns in human glioblastoma
cell line U87MG |
|
11 |
8014479 |
2 |
EIF3F |
C |
T |
exonic |
synonymous SNV |
EIF3F:NM_003754:exon4:c.C561T:p.H187H |
|
11 |
8486310 |
2 |
STK33 |
C |
A |
exonic |
synonymous SNV |
STK33:NM_001289061:exon4:c.G399T:p.A133A,STK33:NM_001289058:exon5:c.G276T:p.A92A,STK33:NM_030906:exon5:c.G399T:p.A133A |
RS1446464 |
Triglycerides:2 hour glucose:Body
mass index (BMI):PROP taste detection threshold:Bipolar disorder:Infant head
circumference:Adiponectin levels:Gene expression of STK33 in normal prepouch
ileum:Obesity with early age of onset (age >2) |
|
11 |
8751889 |
2 |
ST5 |
C |
G |
exonic |
nonsynonymous SNV |
ST5:NM_213618:exon3:c.G948C:p.K316N,ST5:NM_005418:exon6:c.G948C:p.K316N |
RS3794153 |
Total cholesterol:Total cholesterol
change with statins:LDL cholesterol change with statins:Serum
creatinine:Disordered gambling:Years of education |
|
11 |
8933064 |
2 |
AKIP1 |
G |
A |
exonic |
nonsynonymous SNV |
AKIP1:NM_001206646:exon2:c.G68A:p.R23K,AKIP1:NM_001206647:exon2:c.G68A:p.R23K,AKIP1:NM_001206648:exon2:c.G68A:p.R23K,AKIP1:NM_020642:exon2:c.G68A:p.R23K |
RS1133833 |
LDL cholesterol:Total
cholesterol:Serum creatinine:Methylation levels at chr11:8890506-8890556
[hg18 coord, probe cg00186954] in Frontal cortex:Gene expression of NRIP3
(ENSG00000175352) in dendritic cells |
|
11 |
9406349 |
2 |
IPO7 |
T |
C |
exonic |
synonymous SNV |
IPO7:NM_006391:exon1:c.T39C:p.T13T |
|
11 |
9595732 |
2 |
WEE1 |
C |
G |
exonic |
synonymous SNV |
WEE1:NM_003390:exon1:c.C252G:p.G84G |
|
11 |
9749645 |
2 |
SWAP70 |
A |
C |
exonic |
synonymous SNV |
SWAP70:NM_001297714:exon4:c.A514C:p.R172R,SWAP70:NM_015055:exon5:c.A688C:p.R230R |
RS397686 |
Fasting
insulin:HOMA-IR:HOMA-B:Total cholesterol change with statins:LDL cholesterol
change with statins:HDL cholesterol:Body mass index (BMI):PROP taste
detection threshold:Transmission distortion |
|
11 |
9754221 |
2 |
SWAP70 |
C |
T |
exonic |
synonymous SNV |
SWAP70:NM_001297714:exon6:c.C870T:p.N290N,SWAP70:NM_015055:exon7:c.C1044T:p.N348N |
RS360157 |
Total cholesterol:Serum
creatinine:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease
(CAD) |
|
11 |
9769562 |
2 |
SWAP70 |
C |
G |
exonic |
nonsynonymous SNV |
SWAP70:NM_001297714:exon9:c.C1339G:p.Q447E,SWAP70:NM_015055:exon10:c.C1513G:p.Q505E |
RS415895 |
Total cholesterol:Serum
creatinine:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total
cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Coronary artery disease (CAD) |
|
11 |
10529739 |
2 |
MTRNR2L8 |
G |
A |
exonic |
nonsynonymous SNV |
MTRNR2L8:NM_001190702:exon1:c.C35T:p.S12L |
|
11 |
10822350 |
2 |
EIF4G2 |
C |
T |
exonic |
synonymous SNV |
EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P |
|
11 |
10875055 |
2 |
ZBED5 |
T |
C |
exonic |
nonsynonymous SNV |
ZBED5:NM_001143667:exon3:c.A1438G:p.I480V,ZBED5:NM_021211:exon3:c.A1438G:p.I480V |
RS1046297 |
Comorbid depressive syndrome and
alcohol dependence |
|
11 |
11913585 |
2 |
USP47 |
G |
T |
exonic |
nonsynonymous SNV |
USP47:NM_017944:exon3:c.G224T:p.G75V,USP47:NM_001282659:exon4:c.G428T:p.G143V,USP47:NM_001330208:exon5:c.G488T:p.G163V |
RS11022079 |
Barnes Akathisia Rating Scale:HDL
cholesterol:Waist hip ratio:Adiponectin levels |
|
11 |
11976628 |
2 |
USP47 |
G |
A |
exonic |
synonymous SNV |
USP47:NM_017944:exon26:c.G3606A:p.Q1202Q,USP47:NM_001282659:exon27:c.G3810A:p.Q1270Q,USP47:NM_001330208:exon28:c.G3870A:p.Q1290Q |
RS7933089 |
Waist hip ratio:Transmission
distortion |
|
11 |
14810762 |
2 |
PDE3B |
A |
G |
exonic |
synonymous SNV |
PDE3B:NM_000922:exon4:c.A1389G:p.R463R |
RS4757268 |
2 hour
glucose:HOMA-IR:Height:Alanine:Pyroglutamate:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels |
|
11 |
17172133 |
2 |
PIK3C2A |
T |
C |
exonic |
synonymous SNV |
PIK3C2A:NM_001321380:exon3:c.A99G:p.A33A,PIK3C2A:NM_002645:exon4:c.A1239G:p.A413A,PIK3C2A:NM_001321378:exon5:c.A1239G:p.A413A |
|
11 |
17191019 |
2 |
PIK3C2A |
A |
G |
exonic |
synonymous SNV |
PIK3C2A:NM_002645:exon2:c.T270C:p.I90I,PIK3C2A:NM_001321378:exon3:c.T270C:p.I90I |
RS214936 |
Gene expression of NUCB2 [probe
203675_at] in lymphoblastoid cell lines:Height:Advanced age-related macular
degeneration:Breast cancer:Gene expression of SNORD14A (ENSG00000201784) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
SNORD14A (ENSG00000201784) in dendritic cells |
|
11 |
17390443 |
2 |
NCR3LG1 |
C |
A |
exonic |
nonsynonymous SNV |
NCR3LG1:NM_001202439:exon4:c.C790A:p.H264N |
|
11 |
17809639 |
2 |
SERGEF |
C |
T |
exonic |
nonsynonymous SNV |
SERGEF:NM_012139:exon11:c.G1370A:p.G457E |
RS10788 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):LDL cholesterol:Hip bone mineral
density (BMD):Spine bone mineral density (BMD):HOMA-B:Total cholesterol |
|
11 |
17809724 |
2 |
SERGEF |
T |
C |
exonic |
nonsynonymous SNV |
SERGEF:NM_012139:exon11:c.A1285G:p.K429E |
RS1528 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):LDL cholesterol:Hip bone mineral density
(BMD):Spine bone mineral density (BMD):HOMA-B:Total cholesterol |
|
11 |
17981047 |
2 |
SERGEF |
C |
T |
exonic |
synonymous SNV |
SERGEF:NM_012139:exon9:c.G981A:p.S327S |
RS211146 |
Gene expression of SERGEF [probe
220482_s_at] in lymphoblastoid cell lines:Schizophrenia:LDL
cholesterol:Triglycerides:Microalbuminuria:Gene expression of SERGEF
[transcript NM_012139, probe A_23_P139207] in liver:Gene expression of SAAL1
in blood:Gene expression of SERGEF in blood:Bipolar disorder:Mitral annular
calcium:Obesity with early age of onset (age >2):Hypertension (early onset
hypertension) |
|
11 |
18253176 |
2 |
SAA2-SAA4;SAA4 |
C |
T |
exonic |
nonsynonymous SNV |
SAA4:NM_006512:exon4:c.G266A:p.C89Y,SAA2-SAA4:NM_001199744:exon6:c.G500A:p.C167Y |
RS2460827 |
2 hour glucose:HDL
cholesterol:Total cholesterol change with statins:Total cholesterol:Total
cholesterol:Breast cancer:Years of education |
|
11 |
18424451 |
2 |
LDHA |
C |
T |
exonic |
synonymous SNV |
LDHA:NM_001135239:exon4:c.C309T:p.S103S,LDHA:NM_001165414:exon5:c.C570T:p.S190S,LDHA:NM_001165415:exon5:c.C483T:p.S161S,LDHA:NM_001165416:exon5:c.C483T:p.S161S,LDHA:NM_005566:exon5:c.C483T:p.S161S |
|
11 |
18424487 |
2 |
LDHA |
A |
G |
exonic |
synonymous SNV |
LDHA:NM_001135239:exon4:c.A345G:p.L115L,LDHA:NM_001165414:exon5:c.A606G:p.L202L,LDHA:NM_001165415:exon5:c.A519G:p.L173L,LDHA:NM_001165416:exon5:c.A519G:p.L173L,LDHA:NM_005566:exon5:c.A519G:p.L173L |
|
11 |
18636504 |
2 |
SPTY2D1 |
T |
C |
exonic |
synonymous SNV |
SPTY2D1:NM_194285:exon3:c.A1317G:p.A439A |
|
11 |
20065673 |
2 |
NAV2 |
G |
T |
exonic |
nonsynonymous SNV |
NAV2:NM_001111019:exon4:c.G312T:p.E104D,NAV2:NM_001111018:exon13:c.G2862T:p.E954D,NAV2:NM_145117:exon13:c.G3054T:p.E1018D,NAV2:NM_182964:exon13:c.G3054T:p.E1018D,NAV2:NM_001244963:exon14:c.G3123T:p.E1041D |
RS3802799 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
11 |
20065779 |
2 |
NAV2 |
C |
G |
exonic |
nonsynonymous SNV |
NAV2:NM_001111019:exon4:c.C418G:p.P140A,NAV2:NM_001111018:exon13:c.C2968G:p.P990A,NAV2:NM_145117:exon13:c.C3160G:p.P1054A,NAV2:NM_182964:exon13:c.C3160G:p.P1054A,NAV2:NM_001244963:exon14:c.C3229G:p.P1077A |
|
11 |
20067064 |
2 |
NAV2 |
C |
T |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon5:c.C1008T:p.D336D,NAV2:NM_001111018:exon14:c.C3558T:p.D1186D,NAV2:NM_145117:exon14:c.C3750T:p.D1250D,NAV2:NM_182964:exon14:c.C3750T:p.D1250D,NAV2:NM_001244963:exon15:c.C3819T:p.D1273D |
RS7125647 |
Triglycerides change with
statins:Waist hip ratio |
|
11 |
20099112 |
2 |
NAV2 |
A |
T |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A |
RS4757028 |
PROP taste detection threshold |
|
11 |
20101704 |
2 |
NAV2 |
C |
T |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon15:c.C2466T:p.S822S,NAV2:NM_001111018:exon25:c.C5082T:p.S1694S,NAV2:NM_145117:exon25:c.C5274T:p.S1758S,NAV2:NM_182964:exon25:c.C5274T:p.S1758S,NAV2:NM_001244963:exon27:c.C5442T:p.S1814S |
|
11 |
20104669 |
2 |
NAV2 |
G |
A |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon16:c.G2634A:p.P878P,NAV2:NM_001111018:exon26:c.G5250A:p.P1750P,NAV2:NM_145117:exon26:c.G5442A:p.P1814P,NAV2:NM_182964:exon26:c.G5451A:p.P1817P,NAV2:NM_001244963:exon28:c.G5619A:p.P1873P |
RS2028570 |
Arthritis including
non-Rheumatoid:Differential exon level expression of NAV2 [probe 3323215] in
brain cortex:Abnormal Involuntary Movement Scale:Fasting insulin:Total
cholesterol:Partial epilepsy:LDL cholesterol:Hypertension (early onset
hypertension) |
|
11 |
20112492 |
2 |
NAV2 |
G |
A |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon17:c.G2772A:p.T924T,NAV2:NM_001111018:exon27:c.G5388A:p.T1796T,NAV2:NM_145117:exon27:c.G5580A:p.T1860T,NAV2:NM_182964:exon27:c.G5589A:p.T1863T,NAV2:NM_001244963:exon29:c.G5757A:p.T1919T |
RS1837971 |
Hypertension (early onset
hypertension) |
|
11 |
20124914 |
2 |
NAV2 |
A |
C |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G |
|
11 |
20529886 |
2 |
PRMT3 |
G |
A |
exonic |
nonsynonymous SNV |
PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N |
|
11 |
21154569 |
2 |
|
11 |
22646532 |
2 |
FANCF |
C |
T |
exonic |
synonymous SNV |
FANCF:NM_022725:exon1:c.G825A:p.L275L |
|
11 |
27362359 |
2 |
CCDC34 |
T |
G |
exonic |
nonsynonymous SNV |
CCDC34:NM_030771:exon5:c.A791C:p.E264A |
RS17244028 |
Total cholesterol:Serum creatinine |
|
11 |
27390089 |
2 |
LGR4 |
T |
C |
exonic |
synonymous SNV |
LGR4:NM_001346432:exon17:c.A2109G:p.K703K,LGR4:NM_018490:exon18:c.A2181G:p.K727K |
|
11 |
32954344 |
2 |
QSER1 |
G |
A |
exonic |
nonsynonymous SNV |
QSER1:NM_001076786:exon4:c.G1153A:p.V385I |
|
11 |
32956244 |
2 |
QSER1 |
A |
G |
exonic |
nonsynonymous SNV |
QSER1:NM_001076786:exon4:c.A3053G:p.N1018S |
|
11 |
32975641 |
2 |
QSER1 |
G |
A |
exonic |
synonymous SNV |
QSER1:NM_001076786:exon5:c.G4029A:p.E1343E |
|
11 |
33054856 |
2 |
DEPDC7 |
C |
T |
exonic |
nonsynonymous SNV |
DEPDC7:NM_001077242:exon9:c.C1391T:p.T464I,DEPDC7:NM_139160:exon9:c.C1364T:p.T455I |
|
11 |
33083263 |
2 |
TCP11L1 |
G |
A |
exonic |
synonymous SNV |
TCP11L1:NM_001145541:exon7:c.G963A:p.P321P,TCP11L1:NM_018393:exon7:c.G963A:p.P321P |
|
11 |
33094215 |
2 |
TCP11L1 |
G |
A |
exonic |
nonsynonymous SNV |
TCP11L1:NM_001145541:exon10:c.G1523A:p.R508Q,TCP11L1:NM_018393:exon10:c.G1523A:p.R508Q |
|
11 |
33308469 |
2 |
HIPK3 |
G |
A |
exonic |
nonsynonymous SNV |
HIPK3:NM_001048200:exon2:c.G509A:p.G170E,HIPK3:NM_001278162:exon2:c.G509A:p.G170E,HIPK3:NM_001278163:exon2:c.G509A:p.G170E,HIPK3:NM_005734:exon2:c.G509A:p.G170E |
|
11 |
34152939 |
2 |
NAT10 |
T |
C |
exonic |
nonsynonymous SNV |
NAT10:NM_001144030:exon12:c.T1165C:p.Y389H,NAT10:NM_024662:exon14:c.T1381C:p.Y461H |
|
11 |
34154641 |
2 |
NAT10 |
C |
T |
exonic |
synonymous SNV |
NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P |
|
11 |
34938265 |
2 |
PDHX |
C |
T |
exonic |
synonymous SNV |
PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P |
|
11 |
34938269 |
2 |
PDHX |
C |
T |
exonic |
nonsynonymous SNV |
PDHX:NM_001166158:exon1:c.C67T:p.R23C,PDHX:NM_003477:exon1:c.C67T:p.R23C |
RS1049306 |
Gene expression of APIP in normal
prepouch ileum:Gene expression of APIP (ENSG00000149089) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of APIP
(ENSG00000149089) in dendritic cells |
|
11 |
34938310 |
2 |
PDHX |
T |
C |
exonic |
synonymous SNV |
PDHX:NM_001166158:exon1:c.T108C:p.S36S,PDHX:NM_003477:exon1:c.T108C:p.S36S |
RS1049307 |
Gene expression of APIP in normal
prepouch ileum |
|
11 |
34991727 |
2 |
PDHX |
T |
C |
exonic |
synonymous SNV |
PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V |
RS497582 |
Gene expression of MMRP19 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:LDL
cholesterol:Total cholesterol:Birth weight:Adiponectin levels |
|
11 |
43911365 |
2 |
ALKBH3 |
T |
C |
exonic |
synonymous SNV |
ALKBH3:NM_139178:exon6:c.T357C:p.T119T |
RS2434478 |
Breast cancer |
|
11 |
43940602 |
2 |
ALKBH3 |
C |
G |
exonic |
nonsynonymous SNV |
ALKBH3:NM_139178:exon9:c.C684G:p.D228E |
|
11 |
45935384 |
2 |
PEX16 |
A |
G |
exonic |
synonymous SNV |
PEX16:NM_004813:exon9:c.T873C:p.Y291Y,PEX16:NM_057174:exon9:c.T873C:p.Y291Y |
RS1132349 |
Acute lung injury following major
trauma |
|
11 |
45937267 |
2 |
PEX16 |
C |
T |
exonic |
nonsynonymous SNV |
PEX16:NM_004813:exon4:c.G346A:p.V116I,PEX16:NM_057174:exon4:c.G346A:p.V116I |
|
11 |
45975130 |
2 |
PHF21A |
C |
T |
exonic |
nonsynonymous SNV |
PHF21A:NM_001101802:exon10:c.G1040A:p.R347H,PHF21A:NM_016621:exon10:c.G1043A:p.R348H |
RS3736508 |
Cystatin C in serum:Chronic kidney
disease:HDL cholesterol:Birth weight:College completion |
|
11 |
46702920 |
2 |
ARHGAP1 |
T |
C |
exonic |
synonymous SNV |
ARHGAP1:NM_004308:exon6:c.A459G:p.K153K |
|
11 |
46893108 |
2 |
LRP4 |
T |
C |
exonic |
nonsynonymous SNV |
LRP4:NM_002334:exon31:c.A4660G:p.S1554G |
RS2306029 |
Hip bone mineral density (BMD):LDL
cholesterol:Schizophrenia:Triglycerides:HDL cholesterol:LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Suicide attempts in bipolar
disorder (substance abuse/dependence):Common variable immunodeficiency:Plasma
fibrin D-dimer levels:Systolic blood pressure (SBP):Age at death with kuru
exposure:Prothrombin antigen |
|
11 |
46898771 |
2 |
LRP4 |
T |
C |
exonic |
nonsynonymous SNV |
LRP4:NM_002334:exon23:c.A3256G:p.I1086V |
RS6485702 |
Hip bone mineral density (BMD):HDL
cholesterol:Low trauma fracture:Spine bone mineral density (BMD):Hip bone
mineral density (BMD):Gene expression of probeset 3329470 in lymphoblastoid
cell lines:Gene expression of probeset 3371792 in osteoblasts:Lumbar spine
bone mineral density (BMD):Femoral neck bone mineral density (BMD):Fasting
blood glucose:LDL cholesterol:Total cholesterol:Triglycerides:HDL
cholesterol:Total hip bone mineral density (BMD) (postmenopausal
females):Aortic valve calcium |
|
11 |
47202120 |
2 |
PACSIN3 |
G |
A |
exonic |
synonymous SNV |
PACSIN3:NM_001184974:exon5:c.C333T:p.R111R,PACSIN3:NM_001184975:exon5:c.C333T:p.R111R,PACSIN3:NM_016223:exon5:c.C333T:p.R111R |
|
11 |
47238522 |
2 |
DDB2 |
T |
C |
exonic |
synonymous SNV |
DDB2:NM_000107:exon3:c.T378C:p.T126T,DDB2:NM_001300734:exon3:c.T378C:p.T126T |
|
11 |
47298360 |
2 |
MADD |
G |
A |
exonic |
synonymous SNV |
MADD:NM_001135943:exon5:c.G1041A:p.E347E,MADD:NM_001135944:exon5:c.G1041A:p.E347E,MADD:NM_003682:exon5:c.G1041A:p.E347E,MADD:NM_130470:exon5:c.G1041A:p.E347E,MADD:NM_130471:exon5:c.G1041A:p.E347E,MADD:NM_130472:exon5:c.G1041A:p.E347E,MADD:NM_130473:exon5:c.G1041A:p.E347E,MADD:NM_130474:exon5:c.G1041A:p.E347E,MADD:NM_130475:exon5:c.G1041A:p.E347E,MADD:NM_130476:exon5:c.G1041A:p.E347E |
RS326214 |
HDL cholesterol:Fasting blood
glucose:HOMA-B:Total cholesterol:Triglycerides:HDL cholesterol:Body mass
index (BMI):College completion:Refractive error |
|
11 |
47303275 |
2 |
MADD |
T |
C |
exonic |
synonymous SNV |
MADD:NM_001135943:exon8:c.T1440C:p.N480N,MADD:NM_001135944:exon8:c.T1440C:p.N480N,MADD:NM_003682:exon8:c.T1440C:p.N480N,MADD:NM_130470:exon8:c.T1440C:p.N480N,MADD:NM_130471:exon8:c.T1440C:p.N480N,MADD:NM_130472:exon8:c.T1440C:p.N480N,MADD:NM_130473:exon8:c.T1440C:p.N480N,MADD:NM_130474:exon8:c.T1440C:p.N480N,MADD:NM_130475:exon8:c.T1440C:p.N480N,MADD:NM_130476:exon8:c.T1440C:p.N480N |
RS326217 |
Gene expression of Hs.6637 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL
cholesterol:Triglycerides:Schizophrenia:APOA1 assay lipoprotein fraction
concentration:HDL cholesterol:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Gene expression of SPI1///AC090582.9 in
blood:Gene expression of MADD///MYBPC3 in blood:Gene expression of
DDB2///ACP2 in blood:Gene expression of SPI1 in blood:Gene expression of
NR1H3///MADD in blood:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Primary rhegmatogenous retinal detachment:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
MADD (ENSG00000110514) in dendritic cells treated with Mycobacterium
tuberculosis:Transmission distortion |
|
11 |
47331116 |
2 |
MADD |
T |
C |
exonic |
synonymous SNV |
MADD:NM_001135943:exon25:c.T3802C:p.L1268L,MADD:NM_001135944:exon25:c.T3793C:p.L1265L,MADD:NM_130470:exon25:c.T3934C:p.L1312L,MADD:NM_130472:exon25:c.T3805C:p.L1269L,MADD:NM_130474:exon25:c.T3805C:p.L1269L,MADD:NM_130476:exon25:c.T3931C:p.L1311L,MADD:NM_130471:exon26:c.T3865C:p.L1289L,MADD:NM_130473:exon26:c.T3994C:p.L1332L,MADD:NM_003682:exon28:c.T4111C:p.L1371L,MADD:NM_130475:exon28:c.T4111C:p.L1371L |
|
11 |
47431728 |
2 |
SLC39A13 |
A |
G |
exonic |
nonsynonymous SNV |
SLC39A13:NM_001128225:exon2:c.A83G:p.E28G,SLC39A13:NM_001330245:exon2:c.A83G:p.E28G,SLC39A13:NM_152264:exon2:c.A83G:p.E28G |
|
11 |
47469439 |
2 |
RAPSN |
A |
G |
exonic |
synonymous SNV |
RAPSN:NM_005055:exon2:c.T456C:p.Y152Y,RAPSN:NM_032645:exon2:c.T456C:p.Y152Y |
RS7111873 |
HDL cholesterol:Fasting blood
glucose:Total cholesterol:Triglycerides change with statins:LDL
cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Advanced
age-related macular degeneration (geographic atrophy):Birth weight:Infant
head circumference:Adiponectin levels:Refractive error |
|
11 |
47640429 |
2 |
MTCH2 |
G |
C |
exonic |
nonsynonymous SNV |
MTCH2:NM_001317232:exon12:c.C841G:p.P281A,MTCH2:NM_001317233:exon12:c.C424G:p.P142A,MTCH2:NM_014342:exon13:c.C868G:p.P290A |
RS1064608 |
Gene expression of Hs.6637 in CHB
lymphoblastoid cell lines:Gene expression of FNBP4 [probe 229272_at] in
lymphoblastoid cell lines:Chronic kidney disease:Serum creatinine:Rheumatoid
arthritis:Total cholesterol:HDL cholesterol:Height:Body mass index (BMI):Systolic
blood pressure (SBP):Adiponectin levels:Birth weight:Gene expression of
C1QTNF4 (probeID ILMN_2195462) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C1QTNF4 (probeID ILMN_2195462) in cerebellum in
Alzheimer's disease cases:Gene expression of C1QTNF4 (probeID ILMN_2195462)
in cerebellum in non-Alzheimer's disease samples:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
MTCH2 (ENSG00000109919) in dendritic cells treated with Mycobacterium
tuberculosis |
|
11 |
48145247 |
2 |
PTPRJ |
T |
C |
exonic |
synonymous SNV |
PTPRJ:NM_001098503:exon5:c.T699C:p.T233T,PTPRJ:NM_002843:exon5:c.T699C:p.T233T |
RS2270992 |
Serum creatinine:Chronic kidney
disease:HDL cholesterol:Height |
|
11 |
57076524 |
1 |
TNKS1BP1 |
C |
T |
exonic |
nonsynonymous SNV |
TNKS1BP1:NM_033396:exon6:c.G3661A:p.G1221R |
|
11 |
57081197 |
1 |
TNKS1BP1 |
G |
C |
exonic |
nonsynonymous SNV |
TNKS1BP1:NM_033396:exon5:c.C965G:p.T322S |
|
11 |
57463500 |
1 |
ZDHHC5 |
T |
C |
exonic |
synonymous SNV |
ZDHHC5:NM_015457:exon9:c.T994C:p.L332L |
RS1783978 |
Fasting blood glucose:Serum
creatinine:Total cholesterol:Height:Resistance to kuru in aged women despite
likely exposure:Birth weight |
|
11 |
57563991 |
1 |
CTNND1 |
C |
T |
exonic |
synonymous SNV |
CTNND1:NM_001085469:exon3:c.C180T:p.D60D,CTNND1:NM_001085463:exon4:c.C180T:p.D60D,CTNND1:NM_001085464:exon4:c.C180T:p.D60D,CTNND1:NM_001085465:exon4:c.C180T:p.D60D,CTNND1:NM_001085466:exon4:c.C180T:p.D60D,CTNND1:NM_001085467:exon4:c.C180T:p.D60D,CTNND1:NM_001085468:exon4:c.C180T:p.D60D,CTNND1:NM_001206890:exon4:c.C180T:p.D60D,CTNND1:NM_001085462:exon5:c.C483T:p.D161D,CTNND1:NM_001206883:exon5:c.C321T:p.D107D,CTNND1:NM_001206884:exon5:c.C321T:p.D107D,CTNND1:NM_001206886:exon5:c.C321T:p.D107D,CTNND1:NM_001206887:exon5:c.C321T:p.D107D,CTNND1:NM_001206888:exon5:c.C321T:p.D107D,CTNND1:NM_001085458:exon6:c.C483T:p.D161D,CTNND1:NM_001085459:exon6:c.C483T:p.D161D,CTNND1:NM_001085460:exon6:c.C483T:p.D161D,CTNND1:NM_001085461:exon6:c.C483T:p.D161D,CTNND1:NM_001206885:exon6:c.C483T:p.D161D,CTNND1:NM_001206889:exon6:c.C321T:p.D107D,CTNND1:NM_001206891:exon6:c.C321T:p.D107D,CTNND1:NM_001331:exon6:c.C483T:p.D161D |
RS10896644 |
Fasting blood glucose:Serum
creatinine:Total cholesterol:Triglycerides:Gene expression of ZDHHC5 in
blood:Gene expression of SERPING1 in blood:Resistance to kuru in aged women
despite likely exposure:Birth weight |
|
11 |
57571232 |
2 |
CTNND1 |
C |
T |
exonic |
synonymous SNV |
CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H |
|
11 |
59344059 |
1 |
OSBP |
G |
A |
exonic |
synonymous SNV |
OSBP:NM_002556:exon14:c.C2415T:p.D805D |
|
11 |
59423043 |
1 |
PATL1 |
A |
G |
exonic |
synonymous SNV |
PATL1:NM_152716:exon8:c.T984C:p.P328P |
|
11 |
60609972 |
1 |
CCDC86 |
A |
G |
exonic |
synonymous SNV |
CCDC86:NM_024098:exon1:c.A375G:p.P125P |
RS2074422 |
Triglycerides:Total
cholesterol:Microalbuminuria |
|
11 |
60666341 |
1 |
PRPF19 |
G |
A |
exonic |
synonymous SNV |
PRPF19:NM_014502:exon12:c.C1047T:p.S349S |
RS3763840 |
Total cholesterol:Chronic kidney
disease:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe
cg10735607] in Temporal cortex:Methylation levels at chr11:60437041-60437091
[hg18 coord, probe cg10735607] in Frontal cortex:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
11 |
60689445 |
2 |
TMEM109 |
T |
C |
exonic |
synonymous SNV |
TMEM109:NM_024092:exon4:c.T540C:p.P180P |
RS555835 |
Differential exon level expression
of TMEM132A [probe 3332643] in brain cortex:Total cholesterol:Methylation
levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal
cortex:Gene expression of TMEM109 in blood:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension):Myopia:Primary rhegmatogenous
retinal detachment:Gene expression of MS4A10 in normal prepouch ileum |
|
11 |
60698054 |
1 |
TMEM132A |
G |
A |
exonic |
synonymous SNV |
TMEM132A:NM_017870:exon5:c.G939A:p.L313L,TMEM132A:NM_178031:exon5:c.G939A:p.L313L |
RS2074416 |
Chronic kidney disease:Methylation
levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal
cortex:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe
cg10735607] in Frontal cortex |
|
11 |
60701136 |
1 |
TMEM132A |
C |
G |
exonic |
synonymous SNV |
TMEM132A:NM_017870:exon8:c.C1482G:p.P494P,TMEM132A:NM_178031:exon8:c.C1479G:p.P493P |
|
11 |
60899767 |
2 |
VPS37C |
A |
G |
exonic |
nonsynonymous SNV |
VPS37C:NM_017966:exon5:c.T593C:p.L198S |
RS754382 |
Spine bone mineral density
(BMD):Fasting blood glucose:HDL cholesterol:Gene expression of CD6 in
blood:Gene expression of [probe 1260762 centered at chr11:60755878] in
blood:Gene expression of CD5 in blood:Serum PUFA:Serum LA/PUFA |
|
11 |
61106892 |
2 |
TKFC |
G |
C |
exonic |
synonymous SNV |
TKFC:NM_015533:exon5:c.G471C:p.T157T |
|
11 |
61108974 |
2 |
TKFC |
G |
A |
exonic |
nonsynonymous SNV |
TKFC:NM_015533:exon6:c.G553A:p.A185T |
|
11 |
61112802 |
2 |
TKFC |
C |
T |
exonic |
synonymous SNV |
TKFC:NM_015533:exon14:c.C1311T:p.V437V |
|
11 |
61165280 |
2 |
TMEM216 |
G |
A |
exonic |
synonymous SNV |
TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P |
RS3741265 |
Irritible bowel syndrome:Gene
expression of PGA5 in peripheral blood monocytes:Gene expression of PGA3 in
peripheral blood monocytes:Gene expression of RFT1 in peripheral blood
monocytes:Total cholesterol:LDL cholesterol:Mitral annular calcium |
|
11 |
61165741 |
2 |
TMEM216;TMEM216 |
G |
C |
exonic;splicing |
nonsynonymous SNV |
TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T |
RS10897158 |
Irritible bowel syndrome |
|
11 |
61179285 |
2 |
CPSF7 |
G |
A |
exonic |
synonymous SNV |
CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I |
|
11 |
61539020 |
1 |
MYRF |
C |
G |
exonic |
synonymous SNV |
MYRF:NM_001127392:exon6:c.C789G:p.P263P,MYRF:NM_013279:exon6:c.C762G:p.P254P |
RS149803 |
HDL
cholesterol:HOMA-B:Triglycerides change with statins:LDL cholesterol:HDL
cholesterol:Total cholesterol:Plasma alpha-linolenic acid levels:Plasma
eicosapentaenoic acid levels:Plasma docosapentaenoic acid levels:PROP taste
detection threshold:Serum LA/FAw67:Serum PUFA:Serum CH2/DB:Serum
Bis/DB:Plasma oleic acid:Serum Bis/FA:Serum LA/PUFA |
|
11 |
61658800 |
2 |
FADS3 |
C |
T |
exonic |
synonymous SNV |
FADS3:NM_021727:exon1:c.G54A:p.A18A |
RS174465 |
Serum FAw3/FAw9S:Serum CH2/DB:Serum
LA/FAw67:Serum DB/FA:Serum Bis/FA:Serum LA/PUFA:Serum Bis/DB:Serum PUFA |
|
11 |
62292882 |
2 |
AHNAK |
G |
T |
exonic |
nonsynonymous SNV |
AHNAK:NM_001346445:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001346446:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001620:exon5:c.C9007A:p.Q3003K |
RS566144 |
Chronic kidney disease:Urinary
albumin-to-creatinine ratio |
|
11 |
62294309 |
2 |
AHNAK |
C |
T |
exonic |
nonsynonymous SNV |
AHNAK:NM_001346445:exon5:c.G7580A:p.G2527D,AHNAK:NM_001346446:exon5:c.G7580A:p.G2527D,AHNAK:NM_001620:exon5:c.G7580A:p.G2527D |
|
11 |
62298068 |
1 |
AHNAK |
A |
G |
exonic |
nonsynonymous SNV |
AHNAK:NM_001346445:exon5:c.T3821C:p.V1274A,AHNAK:NM_001346446:exon5:c.T3821C:p.V1274A,AHNAK:NM_001620:exon5:c.T3821C:p.V1274A |
|
11 |
62439569 |
2 |
UQCC3 |
G |
A |
exonic |
nonsynonymous SNV |
UQCC3:NM_001085372:exon2:c.G265A:p.G89S |
RS13941 |
Triglycerides change with
statins:HDL cholesterol change with statins:Waist hip ratio:Gene expression
of EEF1G (probeID ILMN_2262288) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of EEF1G (probeID ILMN_2262288) in
cerebellum in Alzheimer's disease cases and controls |
|
11 |
62484531 |
1 |
HNRNPUL2 |
C |
T |
exonic |
synonymous SNV |
HNRNPUL2:NM_001079559:exon11:c.G1911A:p.E637E |
|
11 |
62559385 |
1 |
TMEM223 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM223:NM_001080501:exon1:c.A82G:p.T28A |
|
11 |
62564009 |
2 |
NXF1 |
T |
C |
exonic |
synonymous SNV |
NXF1:NM_006362:exon14:c.A1209G:p.R403R |
RS4693 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Urinary albumin-to-creatinine
ratio |
|
11 |
62575025 |
1 |
STX5 |
A |
T |
exonic |
synonymous SNV |
STX5:NM_001330294:exon11:c.T822A:p.S274S,STX5:NM_003164:exon11:c.T984A:p.S328S |
RS2228626 |
Total cholesterol:Total cholesterol
change with statins:Serum creatinine:Body mass index (BMI):Obesity with early
age of onset (age >2) |
|
11 |
62592961 |
1 |
STX5 |
T |
C |
exonic |
synonymous SNV |
STX5:NM_001244666:exon6:c.A474G:p.R158R,STX5:NM_001330294:exon6:c.A312G:p.R104R,STX5:NM_003164:exon6:c.A474G:p.R158R |
RS2228627 |
Serum creatinine:Obesity with early
age of onset (age >2) |
|
11 |
62602983 |
1 |
WDR74 |
A |
G |
exonic |
synonymous SNV |
WDR74:NM_001307977:exon6:c.T538C:p.L180L,WDR74:NM_018093:exon7:c.T538C:p.L180L |
RS2298636 |
Total cholesterol:Total cholesterol
change with statins:Serum creatinine:Body mass index (BMI):Obesity with early
age of onset (age >2) |
|
11 |
62652779 |
1 |
SLC3A2 |
C |
T |
exonic |
synonymous SNV |
SLC3A2:NM_001013251:exon6:c.C949T:p.L317L,SLC3A2:NM_001012664:exon7:c.C1066T:p.L356L,SLC3A2:NM_001012662:exon9:c.C1255T:p.L419L,SLC3A2:NM_002394:exon9:c.C1252T:p.L418L |
RS4726 |
Microalbuminuria |
|
11 |
63449125 |
1 |
RTN3 |
C |
A |
exonic |
nonsynonymous SNV |
RTN3:NM_001265589:exon1:c.C17A:p.A6E,RTN3:NM_001265590:exon1:c.C17A:p.A6E,RTN3:NM_001265591:exon1:c.C17A:p.A6E,RTN3:NM_006054:exon1:c.C17A:p.A6E,RTN3:NM_201428:exon1:c.C17A:p.A6E,RTN3:NM_201429:exon1:c.C17A:p.A6E,RTN3:NM_201430:exon1:c.C17A:p.A6E |
RS11551944 |
Rheumatoid arthritis:Infant head
circumference |
|
11 |
63679369 |
2 |
RCOR2 |
T |
C |
exonic |
nonsynonymous SNV |
RCOR2:NM_173587:exon12:c.A1540G:p.T514A |
|
11 |
63681513 |
2 |
RCOR2 |
T |
C |
exonic |
synonymous SNV |
RCOR2:NM_173587:exon8:c.A804G:p.E268E |
|
11 |
63767186 |
2 |
MACROD1 |
A |
G |
exonic |
synonymous SNV |
MACROD1:NM_014067:exon6:c.T714C:p.S238S |
|
11 |
63994510 |
1 |
NUDT22 |
C |
G |
exonic |
nonsynonymous SNV |
NUDT22:NM_001128612:exon2:c.C386G:p.T129R,NUDT22:NM_001128613:exon2:c.C386G:p.T129R,NUDT22:NM_001271831:exon2:c.C386G:p.T129R,NUDT22:NM_032344:exon2:c.C386G:p.T129R |
|
11 |
63997329 |
2 |
NUDT22 |
A |
G |
exonic |
nonsynonymous SNV |
NUDT22:NM_001128613:exon5:c.A680G:p.Q227R,NUDT22:NM_001271831:exon5:c.A680G:p.Q227R,NUDT22:NM_001128612:exon6:c.A779G:p.Q260R,NUDT22:NM_032344:exon6:c.A779G:p.Q260R |
|
11 |
63997338 |
2 |
NUDT22 |
T |
C |
exonic |
nonsynonymous SNV |
NUDT22:NM_001128613:exon5:c.T689C:p.L230P,NUDT22:NM_001271831:exon5:c.T689C:p.L230P,NUDT22:NM_001128612:exon6:c.T788C:p.L263P,NUDT22:NM_032344:exon6:c.T788C:p.L263P |
|
11 |
64022459 |
2 |
PLCB3 |
A |
G |
exonic |
synonymous SNV |
PLCB3:NM_001184883:exon2:c.A135G:p.P45P,PLCB3:NM_000932:exon4:c.A336G:p.P112P,PLCB3:NM_001316314:exon4:c.A336G:p.P112P |
|
11 |
64023971 |
1 |
PLCB3 |
G |
A |
exonic |
synonymous SNV |
PLCB3:NM_001184883:exon7:c.G621A:p.L207L,PLCB3:NM_000932:exon9:c.G822A:p.L274L,PLCB3:NM_001316314:exon9:c.G822A:p.L274L |
RS7943988 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Abnormal
Involuntary Movement Scale:Rheumatoid arthritis:Years of
education:Adiponectin levels |
|
11 |
64026685 |
1 |
PLCB3 |
C |
T |
exonic |
synonymous SNV |
PLCB3:NM_001184883:exon11:c.C1293T:p.S431S,PLCB3:NM_000932:exon13:c.C1494T:p.S498S,PLCB3:NM_001316314:exon13:c.C1494T:p.S498S |
|
11 |
64085785 |
2 |
PRDX5 |
A |
G |
exonic |
nonsynonymous SNV |
PRDX5:NM_012094:exon1:c.A98G:p.Y33C,PRDX5:NM_181651:exon1:c.A98G:p.Y33C,PRDX5:NM_181652:exon1:c.A98G:p.Y33C |
|
11 |
64534484 |
1 |
SF1 |
T |
C |
exonic |
nonsynonymous SNV |
SF1:NM_001346410:exon11:c.A1129G:p.T377A,SF1:NM_001346363:exon12:c.A1465G:p.T489A,SF1:NM_001346364:exon12:c.A1465G:p.T489A,SF1:NM_201997:exon12:c.A1474G:p.T492A |
|
11 |
64572018 |
2 |
MEN1 |
T |
C |
exonic |
nonsynonymous SNV |
MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A |
|
11 |
64572557 |
2 |
MEN1 |
A |
G |
exonic |
synonymous SNV |
MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H |
|
11 |
64572602 |
2 |
MEN1 |
G |
A |
exonic |
synonymous SNV |
MEN1:NM_000244:exon9:c.C1269T:p.D423D,MEN1:NM_130799:exon9:c.C1254T:p.D418D,MEN1:NM_130800:exon9:c.C1269T:p.D423D,MEN1:NM_130801:exon9:c.C1269T:p.D423D,MEN1:NM_130802:exon9:c.C1269T:p.D423D,MEN1:NM_130803:exon9:c.C1269T:p.D423D,MEN1:NM_130804:exon10:c.C1269T:p.D423D |
|
11 |
64591972 |
2 |
CDC42BPG |
T |
C |
exonic |
synonymous SNV |
CDC42BPG:NM_017525:exon37:c.A4629G:p.L1543L |
RS10792447 |
Total cholesterol change with
statins:Gene expression of RASGRP2 (ENSG00000068831) in dendritic
cells:Refractive error:Adiponectin levels:Birth weight |
|
11 |
64597506 |
1 |
CDC42BPG |
T |
C |
exonic |
nonsynonymous SNV |
CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R |
RS3741395 |
2 hour glucose:Total cholesterol
change with statins:Birth weight:Refractive error |
|
11 |
64599139 |
1 |
CDC42BPG |
C |
T |
exonic |
nonsynonymous SNV |
CDC42BPG:NM_017525:exon28:c.G3142A:p.A1048T |
|
11 |
64621856 |
2 |
EHD1 |
A |
G |
exonic |
synonymous SNV |
EHD1:NM_006795:exon5:c.T1554C:p.P518P,EHD1:NM_001282445:exon6:c.T1596C:p.P532P,EHD1:NM_001282444:exon7:c.T1554C:p.P518P |
|
11 |
64622869 |
1 |
EHD1 |
G |
C |
exonic |
synonymous SNV |
EHD1:NM_006795:exon4:c.C1005G:p.L335L,EHD1:NM_001282445:exon5:c.C1047G:p.L349L,EHD1:NM_001282444:exon6:c.C1005G:p.L335L |
RS10897533 |
Major depressive disorder:HDL
cholesterol change with statins:Waist hip ratio:Adiponectin levels |
|
11 |
64645871 |
1 |
EHD1 |
A |
G |
exonic |
synonymous SNV |
EHD1:NM_006795:exon1:c.T66C:p.A22A,EHD1:NM_001282445:exon2:c.T108C:p.A36A,EHD1:NM_001282444:exon3:c.T66C:p.A22A |
RS1211284 |
HDL cholesterol change with
statins:Bipolar disorder:Gene expression change of PPP2R5B (ENSG00000068971)
in dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of PPP2R5B (ENSG00000068971) in dendritic cells:Salmonella-induced
pyroptosis:Adiponectin levels |
|
11 |
64665358 |
1 |
ATG2A |
T |
G |
exonic |
synonymous SNV |
ATG2A:NM_015104:exon35:c.A4947C:p.G1649G |
|
11 |
64665394 |
1 |
ATG2A |
T |
C |
exonic |
synonymous SNV |
ATG2A:NM_015104:exon35:c.A4911G:p.E1637E |
|
11 |
64677293 |
2 |
ATG2A |
G |
C |
exonic |
nonsynonymous SNV |
ATG2A:NM_015104:exon14:c.C1967G:p.P656R |
|
11 |
64799998 |
2 |
SNX15 |
T |
C |
exonic |
synonymous SNV |
SNX15:NM_013306:exon3:c.T231C:p.P77P,SNX15:NM_147777:exon3:c.T231C:p.P77P |
RS534236 |
Triglycerides:HOMA-IR:Fasting
insulin:Triglycerides:Height:Refractive error |
|
11 |
64809090 |
2 |
SAC3D1 |
T |
G |
exonic |
nonsynonymous SNV |
SAC3D1:NM_013299:exon1:c.T326G:p.L109R |
|
11 |
64809133 |
2 |
SAC3D1 |
T |
G |
exonic |
synonymous SNV |
SAC3D1:NM_013299:exon1:c.T369G:p.A123A |
|
11 |
64809167 |
2 |
SAC3D1 |
A |
G |
exonic |
nonsynonymous SNV |
SAC3D1:NM_013299:exon1:c.A403G:p.T135A |
|
11 |
64813685 |
1 |
NAALADL1 |
G |
C |
exonic |
nonsynonymous SNV |
NAALADL1:NM_005468:exon15:c.C1831G:p.L611V |
|
11 |
64880090 |
2 |
TM7SF2 |
G |
C |
exonic |
synonymous SNV |
TM7SF2:NM_001277233:exon2:c.G156C:p.P52P,TM7SF2:NM_003273:exon2:c.G156C:p.P52P |
|
11 |
64884052 |
2 |
ZNHIT2 |
G |
A |
exonic |
synonymous SNV |
ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A |
|
11 |
64950970 |
1 |
CAPN1 |
C |
T |
exonic |
synonymous SNV |
CAPN1:NM_001198868:exon4:c.C363T:p.I121I,CAPN1:NM_001198869:exon4:c.C363T:p.I121I,CAPN1:NM_005186:exon4:c.C363T:p.I121I |
RS17583 |
HDL cholesterol |
|
11 |
65144075 |
2 |
SLC25A45 |
T |
C |
exonic |
nonsynonymous SNV |
SLC25A45:NM_001278250:exon5:c.A598G:p.M200V,SLC25A45:NM_001300820:exon5:c.A484G:p.M162V,SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V,SLC25A45:NM_001278251:exon10:c.A544G:p.M182V |
RS624307 |
Salmonella-induced pyroptosis |
|
11 |
65168281 |
1 |
FRMD8 |
C |
T |
exonic |
synonymous SNV |
FRMD8:NM_001300832:exon8:c.C846T:p.F282F,FRMD8:NM_001300833:exon8:c.C912T:p.F304F,FRMD8:NM_031904:exon9:c.C1014T:p.F338F |
RS2073801 |
Cystatin C in
serum:Height:Hypertension (early onset hypertension):Gene expression of
SLC25A45 (ENSG00000162241) in dendritic cells treated with Mycobacterium
tuberculosis:Parkinson's disease:Gene expression of FRMD8 (ENSG00000126391)
in dendritic cells |
|
11 |
65347636 |
2 |
EHBP1L1 |
G |
C |
exonic |
nonsynonymous SNV |
EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L,EHBP1L1:NM_001351087:exon5:c.G397C:p.V133L |
|
11 |
65349849 |
2 |
EHBP1L1 |
A |
T |
exonic |
nonsynonymous SNV |
EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V |
|
11 |
65383896 |
2 |
PCNX3 |
G |
C |
exonic |
synonymous SNV |
PCNX3:NM_032223:exon1:c.G114C:p.V38V |
|
11 |
65385606 |
2 |
PCNX3 |
A |
G |
exonic |
nonsynonymous SNV |
PCNX3:NM_032223:exon6:c.A773G:p.Q258R |
|
11 |
65386206 |
1 |
PCNX3 |
C |
G |
exonic |
nonsynonymous SNV |
PCNX3:NM_032223:exon6:c.C1373G:p.S458C |
RS1193851 |
Triglycerides:HDL
cholesterol:Fasting insulin:Serum creatinine:HDL
cholesterol:Microalbuminuria:Gene expression of KAT5 [transcript NM_182710,
probe 7550228] in liver:Infant head circumference:Adiponectin levels:Aortic
valve calcium |
|
11 |
65392695 |
1 |
PCNX3 |
C |
T |
exonic |
synonymous SNV |
PCNX3:NM_032223:exon17:c.C2973T:p.L991L |
RS1205259 |
LDL cholesterol:Fasting blood
glucose:Fasting insulin:Chronic kidney disease:Serum creatinine:HDL
cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Height:Body mass
index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene
expression of [probe 3780382 centered at chr11:65300244] in blood:Gene
expression of SCYL1 in blood:Gene expression of MAP3K11///SIPA1 in blood:Gene
expression of [probe 3830433 centered at chr11:65295241] in blood:Aortic
valve calcium:Obesity with early age of onset (age >2):Adiponectin levels |
|
11 |
65546857 |
1 |
AP5B1 |
A |
C |
exonic |
synonymous SNV |
AP5B1:NM_138368:exon2:c.T1107G:p.L369L |
RS610037 |
LDL cholesterol:Serum
creatinine:Chronic kidney disease:Gene expression of AYP1P1 in peripheral
blood monocytes:Gene expression of MAP3K11 in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Gene
expression of EFEMP2 (ENSG00000172638) in dendritic cells treated with
Mycobacterium tuberculosis:Infant head circumference |
|
11 |
65547333 |
1 |
AP5B1 |
G |
A |
exonic |
nonsynonymous SNV |
AP5B1:NM_138368:exon2:c.C631T:p.L211F |
RS12146493 |
Total cholesterol:LDL
cholesterol:Total cholesterol:Myocardial infarction (MI):Gene expression of
OVOL1 (ENSG00000172818) in dendritic cells treated with Mycobacterium
tuberculosis:Infant head circumference:Birth weight |
|
11 |
65547455 |
1 |
AP5B1 |
C |
A |
exonic |
nonsynonymous SNV |
AP5B1:NM_138368:exon2:c.G509T:p.G170V |
|
11 |
65623519 |
2 |
CFL1 |
G |
A |
exonic |
synonymous SNV |
CFL1:NM_005507:exon2:c.C198T:p.D66D |
|
11 |
65628334 |
2 |
MUS81 |
G |
A |
exonic |
nonsynonymous SNV |
MUS81:NM_001350283:exon1:c.G110A:p.R37H,MUS81:NM_025128:exon1:c.G110A:p.R37H |
RS13817 |
Gene expression of FLJ30934 [probe
3335600] in brain cortex:Differential exon level expression of FLJ30934
[probe 3335626] in brain cortex:Fasting blood glucose:LDL cholesterol change
with statins:Total cholesterol change with statins:HDL cholesterol change
with statins:HDL cholesterol:Gene expression of EFEMP2 in CD4+
lymphocytes:Height:Neuroblastoma (brain cancer):Late onset Alzheimer's
disease:Gene expression of EIF1AD///BANF1 in blood:Gene expression of [probe
3830433 centered at chr11:65295241] in blood:Gene expression of
MUS81///EFEMP2 in blood:Gene expression of CTSW///FIBP in blood:Gene
expression of BANF1 in blood:Gene expression of EFEMP2 [probeset 206580_s_at]
in sputum:College completion:Gene expression of SNX32 in normal prepouch
ileum:Gene expression of CTSW in normal prepouch ileum:Gene expression of
SNX32 (probeID ILMN_1683737) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of SNX32 (probeID ILMN_1683737) in cerebellum in
Alzheimer's disease cases and controls |
|
11 |
65629932 |
2 |
MUS81 |
T |
C |
exonic |
synonymous SNV |
MUS81:NM_001350283:exon6:c.T537C:p.A179A,MUS81:NM_025128:exon6:c.T537C:p.A179A |
RS659857 |
Fasting blood glucose:HOMA-IR:LDL
cholesterol change with statins:Total cholesterol change with statins:HDL
cholesterol change with statins:HDL cholesterol:Height:Gene expression of
SNX32 (probeID ILMN_1683737) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of CTSW in normal prepouch ileum:Gene expression
of SNX32 in normal prepouch ileum:Gene expression of SNX32 (probeID
ILMN_1683737) in cerebellum in Alzheimer's disease cases and controls:College
completion |
|
11 |
65629934 |
2 |
MUS81 |
G |
C |
exonic |
nonsynonymous SNV |
MUS81:NM_001350283:exon6:c.G539C:p.R180P,MUS81:NM_025128:exon6:c.G539C:p.R180P |
|
11 |
65631167 |
2 |
MUS81 |
C |
T |
exonic |
synonymous SNV |
MUS81:NM_001350283:exon9:c.C936T:p.A312A,MUS81:NM_025128:exon9:c.C936T:p.A312A |
RS648732 |
Fasting blood glucose:HOMA-IR:LDL
cholesterol change with statins:Total cholesterol change with statins:HDL
cholesterol change with statins:HDL cholesterol:Height:Gene expression of
SNX32 in normal prepouch ileum:Gene expression of SNX32 (probeID ILMN_1683737)
in temporal cortex in Alzheimer's disease cases and controls:College
completion:Gene expression of SNX32 (probeID ILMN_1683737) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of CTSW in normal
prepouch ileum |
|
11 |
65632262 |
2 |
MUS81 |
G |
T |
exonic |
synonymous SNV |
MUS81:NM_001350283:exon12:c.G1251T:p.T417T,MUS81:NM_025128:exon12:c.G1248T:p.T416T |
RS558114 |
Gene expression of SNX32 in normal
prepouch ileum:Gene expression of CTSW in normal prepouch ileum |
|
11 |
65636053 |
2 |
EFEMP2 |
T |
C |
exonic |
nonsynonymous SNV |
EFEMP2:NM_016938:exon8:c.A775G:p.I259V |
|
11 |
65664346 |
2 |
FOSL1 |
T |
C |
exonic |
synonymous SNV |
FOSL1:NM_001300844:exon2:c.A231G:p.Q77Q,FOSL1:NM_001300855:exon2:c.A231G:p.Q77Q,FOSL1:NM_005438:exon2:c.A231G:p.Q77Q |
|
11 |
65667796 |
1 |
FOSL1 |
G |
A |
exonic |
synonymous SNV |
FOSL1:NM_001300844:exon1:c.C15T:p.F5F,FOSL1:NM_001300855:exon1:c.C15T:p.F5F,FOSL1:NM_001300856:exon1:c.C15T:p.F5F,FOSL1:NM_001300857:exon1:c.C15T:p.F5F,FOSL1:NM_005438:exon1:c.C15T:p.F5F |
|
11 |
65685225 |
2 |
C11orf68 |
T |
C |
exonic |
nonsynonymous SNV |
C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R |
|
11 |
65732651 |
1 |
SART1 |
G |
A |
exonic |
synonymous SNV |
SART1:NM_005146:exon4:c.G516A:p.A172A |
RS550435 |
LDL cholesterol:Height:Infant head
circumference:Gene expression of SNX32 in normal prepouch ileum |
|
11 |
65733393 |
1 |
SART1 |
C |
T |
exonic |
synonymous SNV |
SART1:NM_005146:exon7:c.C774T:p.T258T |
RS688862 |
Fasting insulin:HOMA-IR:LDL
cholesterol change with statins:Adiponectin levels |
|
11 |
65735174 |
1 |
SART1 |
G |
C |
exonic |
nonsynonymous SNV |
SART1:NM_005146:exon12:c.G1454C:p.G485A |
RS660118 |
LDL cholesterol:Height:Infant head
circumference:Adiponectin levels |
|
11 |
65826704 |
1 |
SF3B2 |
G |
A |
exonic |
synonymous SNV |
SF3B2:NM_006842:exon11:c.G1215A:p.K405K |
|
11 |
66031660 |
1 |
KLC2 |
C |
T |
exonic |
synonymous SNV |
KLC2:NM_001134774:exon7:c.C855T:p.D285D,KLC2:NM_001134775:exon8:c.C1086T:p.D362D,KLC2:NM_001134776:exon8:c.C1086T:p.D362D,KLC2:NM_001318734:exon8:c.C1086T:p.D362D,KLC2:NM_022822:exon8:c.C1086T:p.D362D |
RS1151539 |
Salmonella-induced pyroptosis |
|
11 |
66083129 |
2 |
CD248 |
T |
C |
exonic |
nonsynonymous SNV |
CD248:NM_020404:exon1:c.A1370G:p.H457R |
RS3741367 |
Gene expression of LOC401233 in
lymphoblastoid cell lines:HOMA-B:Fasting insulin:HOMA-IR:HDL
cholesterol:Waist hip ratio:Gene expression of DPP3 in blood:Gene expression
of RIN1///BRMS1 in blood:Infant head circumference:Tetrology of
fallot:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion:Primary rhegmatogenous
retinal detachment:Years of education:Hypertension (early onset
hypertension):Adiponectin levels |
|
11 |
66099987 |
2 |
RIN1 |
C |
T |
exonic |
synonymous SNV |
RIN1:NM_004292:exon10:c.G2112A:p.A704A |
RS1784029 |
Total cholesterol change with
statins:College completion:Years of education |
|
11 |
66100152 |
2 |
RIN1 |
T |
C |
exonic |
synonymous SNV |
RIN1:NM_004292:exon10:c.A1947G:p.E649E |
|
11 |
66107674 |
2 |
BRMS1 |
A |
G |
exonic |
synonymous SNV |
BRMS1:NM_001024957:exon7:c.T546C:p.D182D,BRMS1:NM_015399:exon7:c.T546C:p.D182D |
|
11 |
66109033 |
2 |
BRMS1 |
T |
C |
exonic |
synonymous SNV |
BRMS1:NM_001024957:exon3:c.A201G:p.L67L,BRMS1:NM_015399:exon3:c.A201G:p.L67L |
|
11 |
66254085 |
1 |
DPP3 |
G |
T |
exonic |
nonsynonymous SNV |
DPP3:NM_001256670:exon3:c.G345T:p.Q115H,DPP3:NM_005700:exon4:c.G435T:p.Q145H,DPP3:NM_130443:exon4:c.G435T:p.Q145H |
RS11550299 |
Rheumatoid arthritis:LDL
cholesterol:Serum creatinine:LDL cholesterol:Height:Gene expression of DPP3
in blood:Gene expression of CCDC87///CCS in blood:Gene expression of CCS in
blood:Gene expression of PELI3 in blood:Variant Creutzfeldt-Jakob disease:Gene
expression of DPP3 in normal prepouch ileum:Gene expression of ACTN3 (probeID
ILMN_1665691) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's
disease cases and controls:Tetrology of fallot |
|
11 |
66272142 |
2 |
DPP3 |
A |
G |
exonic |
synonymous SNV |
DPP3:NM_001256670:exon16:c.A1848G:p.T616T,DPP3:NM_005700:exon17:c.A1938G:p.T646T,DPP3:NM_130443:exon17:c.A1938G:p.T646T |
RS1671063 |
2 hour glucose:Serum
creatinine:Height:Mitral annular calcium:Tetrology of fallot |
|
11 |
66272237 |
1 |
DPP3 |
G |
A |
exonic |
nonsynonymous SNV |
DPP3:NM_001256670:exon16:c.G1943A:p.R648H,DPP3:NM_005700:exon17:c.G2033A:p.R678H,DPP3:NM_130443:exon17:c.G2033A:p.R678H |
RS2305535 |
Rheumatoid arthritis:2 hour
glucose:Serum creatinine:Gene expression of CCS in peripheral blood
monocytes:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene
expression of DPP3 in blood:Gene expression of CCDC87///CCS in blood:Gene
expression of PELI3 in blood:Gene expression of CCS in blood:Variant
Creutzfeldt-Jakob disease:Tetrology of fallot:Gene expression of ACTN3
(probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ACTN3 (probeID ILMN_1665691) in temporal cortex
in Alzheimer's disease cases and controls |
|
11 |
66282095 |
1 |
BBS1 |
G |
A |
exonic |
synonymous SNV |
BBS1:NM_024649:exon4:c.G378A:p.L126L |
RS2298806 |
Rheumatoid arthritis:2 hour
glucose:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip
ratio:Gene expression of DPP3 in blood:Gene expression of CCDC87///CCS in
blood:Gene expression of PELI3 in blood:Gene expression of CCS in blood:Variant
Creutzfeldt-Jakob disease:Gene expression of ACTN3 (probeID ILMN_1665691) in
cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene
expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's
disease cases and controls |
|
11 |
66297363 |
1 |
BBS1 |
C |
T |
exonic |
synonymous SNV |
BBS1:NM_024649:exon14:c.C1413T:p.L471L |
RS3816492 |
Rheumatoid arthritis:2 hour
glucose:HDL cholesterol change with statins:Serum creatinine:LDL
cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of CCS
in blood:Gene expression of CCDC87///CCS in blood:Gene expression of PELI3 in
blood:Gene expression of DPP3 in blood:Variant Creutzfeldt-Jakob disease:Gene
expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Tetrology of fallot:Gene expression
of ACTN3 (probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases
and controls |
|
11 |
66373305 |
1 |
CCS |
G |
A |
exonic |
synonymous SNV |
CCS:NM_005125:exon8:c.G804A:p.A268A |
|
11 |
66392880 |
1 |
RBM14 |
C |
T |
exonic |
synonymous SNV |
RBM14:NM_006328:exon2:c.C1533T:p.T511T |
|
11 |
66472274 |
2 |
SPTBN2 |
T |
C |
exonic |
nonsynonymous SNV |
SPTBN2:NM_006946:exon14:c.A2473G:p.S825G |
|
11 |
66834252 |
2 |
RHOD |
C |
T |
exonic |
synonymous SNV |
RHOD:NM_014578:exon3:c.C264T:p.D88D |
RS2282502 |
HDL cholesterol:Height |
|
11 |
66837965 |
2 |
RHOD |
T |
C |
exonic |
nonsynonymous SNV |
RHOD:NM_001300886:exon2:c.T202C:p.C68R,RHOD:NM_014578:exon4:c.T400C:p.C134R |
|
11 |
66995603 |
2 |
KDM2A |
T |
C |
exonic |
synonymous SNV |
KDM2A:NM_012308:exon11:c.T1053C:p.T351T |
RS3741189 |
Gene expression of RPS6KB2 in JPT
lymphoblastoid cell lines:Spine bone mineral density (BMD):LDL
cholesterol:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine
ratio |
|
11 |
67034266 |
2 |
GRK2 |
C |
A |
exonic |
synonymous SNV |
GRK2:NM_001619:exon1:c.C96A:p.I32I |
|
11 |
67068859 |
2 |
ANKRD13D |
T |
C |
exonic |
synonymous SNV |
ANKRD13D:NM_207354:exon12:c.T1338C:p.V446V,ANKRD13D:NM_001347901:exon13:c.T1077C:p.V359V |
RS2298815 |
HDL cholesterol:Parkinson's
disease:Acute lung injury following major trauma |
|
11 |
67257823 |
2 |
AIP |
C |
A |
exonic |
nonsynonymous SNV |
AIP:NM_001302959:exon5:c.C505A:p.Q169K,AIP:NM_001302960:exon5:c.C682A:p.Q228K,AIP:NM_003977:exon5:c.C682A:p.Q228K |
|
11 |
67258391 |
2 |
AIP |
A |
G |
exonic |
nonsynonymous SNV |
AIP:NM_001302959:exon6:c.A743G:p.Q248R,AIP:NM_003977:exon6:c.A920G:p.Q307R |
|
11 |
67263767 |
2 |
PITPNM1 |
A |
G |
exonic |
synonymous SNV |
PITPNM1:NM_001130848:exon15:c.T2196C:p.A732A,PITPNM1:NM_004910:exon15:c.T2199C:p.A733A |
|
11 |
67395714 |
1 |
NUDT8 |
C |
T |
exonic |
synonymous SNV |
NUDT8:NM_001243750:exon4:c.G414A:p.E138E |
RS7124513 |
Differential exon level expression
of GSTP1 [probe 3337192] in peripheral blood mononuclear cells:Differential
exon level expression of GSTP1 [probe 3337192] in brain cortex:Methylation
levels at chr11:67129690-67129740 [hg18 coord, probe cg06235429] in Temporal
cortex:Methylation levels at chr11:67129690-67129740 [hg18 coord, probe
cg06235429] in Cerebellum:Methylation levels at chr11:67129609-67129659 [hg18
coord, probe cg09701102] in Frontal cortex:Methylation levels at
chr11:67129609-67129659 [hg18 coord, probe cg09701102] in
Cerebellum:Methylation levels at chr11:67129690-67129740 [hg18 coord, probe
cg06235429] in Frontal cortex:Triglycerides:Height:Gene expression of CDK2AP2
[transcript NM_005851, probe A_23_P104579] in liver:Gene expression of GSTP1
in blood:Gene expression of PTPRCAP///CORO1B in blood:Gene expression of
RPS6KB2 in blood:Gene expression of TBX10 in normal prepouch ileum:Refractive
error |
|
11 |
67414492 |
2 |
ACY3 |
C |
T |
exonic |
nonsynonymous SNV |
ACY3:NM_080658:exon3:c.G23A:p.R8Q |
RS948445 |
Asthma:Partial epilepsy:Sporadic
Creutzfeldt-Jakob disease:Gene expression of ACY3 in normal prepouch
ileum:Mitral annular calcium:Acute lung injury following major
trauma:Parkinson's disease:Hypertension (early onset hypertension) |
|
11 |
67759254 |
1 |
UNC93B1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
11 |
67789138 |
1 |
ALDH3B1 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS2286168 |
Asthma |
|
11 |
67793509 |
1 |
ALDH3B1 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS2286163 |
HOMA-B:Diastolic blood pressure
(DBP):Acute lung injury following major trauma |
|
11 |
67804025 |
1 |
NDUFS8 |
G |
A |
exonic |
nonsynonymous SNV |
NDUFS8:NM_002496:exon7:c.G598A:p.A200T |
|
11 |
67814979 |
2 |
TCIRG1 |
G |
C |
exonic |
synonymous SNV |
TCIRG1:NM_006053:exon6:c.G597C:p.L199L,TCIRG1:NM_001351059:exon10:c.G351C:p.L117L,TCIRG1:NM_006019:exon11:c.G1245C:p.L415L |
|
11 |
67957518 |
2 |
KMT5B |
A |
T |
exonic |
nonsynonymous SNV |
KMT5B:NM_001300909:exon2:c.T26A:p.I9N,KMT5B:NM_016028:exon2:c.T26A:p.I9N,KMT5B:NM_017635:exon2:c.T26A:p.I9N |
|
11 |
68030173 |
2 |
C11orf24 |
C |
A |
exonic |
nonsynonymous SNV |
C11orf24:NM_022338:exon4:c.G290T:p.G97V |
RS3802746 |
Lumbar spine bone mineral density
(BMD):Arthritis including non-Rheumatoid:Gene expression of C11orf24 in
blood:Systolic blood pressure (SBP):Advanced age-related macular
degeneration:Primary rhegmatogenous retinal detachment |
|
11 |
68171013 |
2 |
LRP5 |
T |
C |
exonic |
synonymous SNV |
LRP5:NM_002335:exon8:c.T1647C:p.F549F |
RS545382 |
Triglycerides:Schizophrenia:Triglycerides:Late
onset Alzheimer's disease:Primary rhegmatogenous retinal detachment |
|
11 |
68174189 |
1 |
LRP5 |
G |
A |
exonic |
nonsynonymous SNV |
LRP5:NM_001291902:exon9:c.G256A:p.V86M,LRP5:NM_002335:exon9:c.G1999A:p.V667M |
RS4988321 |
Obesity with early age of onset (age
>2) |
|
11 |
68177510 |
1 |
LRP5 |
C |
T |
exonic |
synonymous SNV |
LRP5:NM_001291902:exon10:c.C477T:p.N159N,LRP5:NM_002335:exon10:c.C2220T:p.N740N |
RS2306862 |
Gene expression of probe 1559119_at
in lymphoblastoid cell lines:Spine bone mineral density (BMD):Lumbar spine
bone mineral density (BMD):Irritible bowel syndrome:Height:Renal cell
carcinoma (renal cancer):Sporadic Creutzfeldt-Jakob disease:Amyotrophic lateral
sclerosis (ALS) age of onset:Aortic valve calcium |
|
11 |
68192690 |
1 |
LRP5 |
G |
A |
exonic |
synonymous SNV |
LRP5:NM_001291902:exon15:c.G1614A:p.V538V,LRP5:NM_002335:exon15:c.G3357A:p.V1119V |
RS556442 |
Gene expression of probe 1559119_at
in lymphoblastoid cell lines:HDL cholesterol |
|
11 |
68201295 |
1 |
LRP5 |
C |
T |
exonic |
nonsynonymous SNV |
LRP5:NM_001291902:exon18:c.C2246T:p.A749V,LRP5:NM_002335:exon18:c.C3989T:p.A1330V |
RS3736228 |
Spine bone mineral density
(BMD):Lumbar spine bone mineral density (BMD):Spine bone mineral density
(BMD):Spine bone mineral density (BMD):Lumbar spine bone mineral density
(BMD):Femoral neck bone mineral density (BMD):Femoral neck bone mineral
density (BMD):Major depressive disorder:Gene expression of MTL5 in peripheral
blood monocytes:Gene expression of CPT1A in peripheral blood monocytes:Gene
expression of LHFPL2 in peripheral blood monocytes:Height:Child behavior
checklist dysregulation profile in children with attention
deficit/hyperactivity disorder (ADHD):Resistance to kuru in aged women
despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Lumbar spine bone
mineral density (BMD):Low-trauma fracture:Femoral neck bone mineral density
(BMD) (premenopausal):Lumbar spine areal bone mineral density (BMD):Femoral
neck areal bone mineral density (BMD):Lumbar spine bone mineral density (BMD) (male):Femoral neck bone mineral
density (BMD):Lumbar spine bone mineral density (BMD) (female):SAPS3 gene expression in
Whole blood:Major depressive disorder:Femoral neck bone mineral density (BMD)
(males):Low-trauma fracture (nonvertebral fracture):SAPS3 gene expression in
Adipose tissue:Femoral neck bone mineral density (BMD) (females):Lumbar spine
bone mineral density (BMD) (premenopausal) |
|
11 |
68549340 |
2 |
CPT1A |
A |
G |
exonic |
synonymous SNV |
CPT1A:NM_001031847:exon11:c.T1251C:p.F417F,CPT1A:NM_001876:exon11:c.T1251C:p.F417F |
RS2228502 |
Gene expression of CPT1A (probeID
ILMN_1710052) in cerebellum in Alzheimer's disease cases and
controls:Parkinson's disease:Gene expression of CPT1A (probeID ILMN_1710052)
in temporal cortex in Alzheimer's disease cases and controls:Infant head
circumference |
|
11 |
68678962 |
2 |
IGHMBP2 |
T |
C |
exonic |
nonsynonymous SNV |
IGHMBP2:NM_002180:exon5:c.T602C:p.L201S |
RS560096 |
Parkinson's disease (PD):Arthritis
including non-Rheumatoid:2 hour glucose:HDL cholesterol change with
statins:Gene expression of CPT1A in peripheral blood monocytes:Gene
expression of MRPL21 in peripheral blood monocytes:Gene expression of MRPL21
in blood:Gene expression of IGHMBP2 in blood:College completion |
|
11 |
68682402 |
1 |
IGHMBP2 |
A |
G |
exonic |
nonsynonymous SNV |
IGHMBP2:NM_002180:exon6:c.A823G:p.I275V |
RS10896380 |
Longstanding arthritis:HDL
cholesterol:Schizophrenia:LDL cholesterol change with statins:Total
cholesterol change with statins:Rheumatoid arthritis:Gene expression of
MRPL21 in peripheral blood monocytes:Gene expression of MRPL21 in blood:Gene
expression of IGHMBP2 in normal prepouch ileum:Infant head circumference |
|
11 |
68703959 |
1 |
IGHMBP2 |
A |
G |
exonic |
nonsynonymous SNV |
IGHMBP2:NM_002180:exon13:c.A2011G:p.T671A |
RS622082 |
Gene expression of MRPL21 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:Differential exon level
expression of MRPL21 [probe 3379723] in brain cortex:Gene expression of
MRPL21 [probe 3379708] in brain cortex:HDL cholesterol:Total cholesterol:Gene
expression of MRPL21 in CD4+ lymphocytes:Gene expression of IGHMBP2 in CD4+
lymphocytes:Asthma:Waist hip ratio:Renal cell carcinoma (renal cancer):Gene
expression of IGHMBP2 in blood:Gene expression of MRPL21 in blood:Gene
expression of TPCN2 in blood:Systolic blood pressure (SBP):Gene expression of
MRPL21 [probeset 225315_at] in sputum:Gene expression of IGHMBP2 [probeset
243746_at] in sputum:Bipolar disorder:Gene expression of MRPL21 (probeID
ILMN_1744835) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID
ILMN_2348050) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MRPL21 (probeID ILMN_2348050) in cerebellum in Alzheimer's
disease cases:Gene expression of MRPL21 (probeID ILMN_1744835) in temporal
cortex in Alzheimer's disease cases:Gene expression of MRPL21 (probeID
ILMN_2348050) in cerebellum in Progressive Supranuclear Palsy cases:College
completion:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in
Alzheimer's disease cases:Gene expression of MRPL21 (probeID ILMN_2348050) in
temporal cortex in Alzheimer's disease cases:Gene expression of MRPL21
(probeID ILMN_1744835) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of IGHMBP2 in normal prepouch ileum:Gene expression of
MRPL21 (probeID ILMN_1744835) in cerebellum in non-Alzheimer's disease
samples:Gene expression of MRPL21 (probeID ILMN_2348050) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID
ILMN_1744835) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of MRPL21 in normal prepouch ileum:Mitral annular calcium:Gene
expression of MRPL21 (probeID ILMN_2348050) in cerebellum in non-Alzheimer's
disease samples |
|
11 |
68704028 |
1 |
IGHMBP2 |
C |
T |
exonic |
nonsynonymous SNV |
IGHMBP2:NM_002180:exon13:c.C2080T:p.R694W |
RS2236654 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol change with statins:Rheumatoid
arthritis:Triglycerides:Gene expression of IGHMBP2 in normal prepouch
ileum:Infant head circumference |
|
11 |
68704264 |
1 |
IGHMBP2 |
C |
T |
exonic |
synonymous SNV |
IGHMBP2:NM_002180:exon13:c.C2316T:p.S772S |
RS546382 |
Gene expression of MRPL21 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol:Total
cholesterol:Waist hip ratio:Renal cell carcinoma (renal cancer):Systolic
blood pressure (SBP):Bipolar disorder:Gene expression of MRPL21 (probeID ILMN_2348050)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
IGHMBP2 in normal prepouch ileum:College completion:Mitral annular
calcium:Gene expression of MRPL21 (probeID ILMN_2348050) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID
ILMN_1744835) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MRPL21 in normal
prepouch ileum |
|
11 |
70118489 |
1 |
PPFIA1 |
G |
A |
exonic |
nonsynonymous SNV |
PPFIA1:NM_003626:exon2:c.G211A:p.V71I,PPFIA1:NM_177423:exon2:c.G211A:p.V71I |
RS546502 |
Hypertension, combined control
dataset:Gene expression of PPFIA1 in peripheral blood monocytes:Gene
expression of PPFIA1 in blood:Resistance to kuru in aged women despite likely
exposure:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Gene expression of PPFIA1 in normal prepouch ileum:Parkinson's
disease:Transmission distortion:Paternal transmission distortion |
|
11 |
70279766 |
1 |
CTTN |
C |
T |
exonic |
synonymous SNV |
CTTN:NM_001184740:exon16:c.C1347T:p.Y449Y,CTTN:NM_138565:exon16:c.C1347T:p.Y449Y,CTTN:NM_005231:exon17:c.C1458T:p.Y486Y |
RS643301 |
Total cholesterol:Gene expression
of PPFIA1 in blood:Resistance to kuru in aged women despite likely
exposure:Parkinson's disease:Gene expression of PPFIA1 in normal prepouch
ileum |
|
11 |
71146691 |
2 |
DHCR7 |
A |
G |
exonic |
synonymous SNV |
DHCR7:NM_001163817:exon9:c.T1158C:p.D386D,DHCR7:NM_001360:exon9:c.T1158C:p.D386D |
RS760241 |
Triglycerides:HDL
cholesterol:Infant head circumference:Serum metabolite (mass spec peak: 556.3
m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec
peak: 636.4 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum
metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak:
680.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite
(mass spec peak: 666.4 m/z) |
|
11 |
71152461 |
2 |
DHCR7 |
A |
G |
exonic |
synonymous SNV |
DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N |
RS949177 |
Triglycerides:HDL cholesterol:Serum
metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak:
636.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite
(mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum
metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak:
629.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Infant head
circumference |
|
11 |
71155153 |
2 |
DHCR7 |
A |
G |
exonic |
synonymous SNV |
DHCR7:NM_001163817:exon4:c.T207C:p.T69T,DHCR7:NM_001360:exon4:c.T207C:p.T69T |
RS1790334 |
Gene expression of DHCR7 [probe
3380697] in peripheral blood mononuclear cells:Gene expression of NADSYN1
[probe 3338968] in brain cortex:HDL cholesterol:Coronary artery disease
(CAD):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec
peak: 666.4 m/z):Serum metabolite (mass spec peak: 665.4 m/z):Serum
metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak:
534.3 m/z):Infant head circumference:Serum metabolite (mass spec peak: 133.1
m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec
peak: 680.4 m/z):Serum metabolite (mass spec peak: 679.4 m/z):Serum
metabolite (mass spec peak: 626.9 m/z) |
|
11 |
71184678 |
2 |
NADSYN1 |
A |
C |
exonic |
nonsynonymous SNV |
NADSYN1:NM_018161:exon8:c.A612C:p.Q204H |
|
11 |
71185479 |
2 |
NADSYN1 |
T |
C |
exonic |
synonymous SNV |
NADSYN1:NM_018161:exon9:c.T705C:p.C235C |
RS2276354 |
Serum metabolite (mass spec peak:
626.9 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite
(mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 556.3
m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec
peak: 636.4 m/z):Infant head circumference:Serum metabolite (mass spec peak:
666.4 m/z):Serum metabolite (mass spec peak: 680.4 m/z) |
|
11 |
71185518 |
2 |
NADSYN1 |
T |
C |
exonic |
synonymous SNV |
NADSYN1:NM_018161:exon9:c.T744C:p.I248I |
RS2186778 |
Serum metabolite (mass spec peak:
534.3 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite
(mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 556.3
m/z):Serum metabolite (mass spec peak: 680.4 m/z):Infant head
circumference:Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite
(mass spec peak: 636.4 m/z) |
|
11 |
71941212 |
1 |
INPPL1 |
A |
G |
exonic |
synonymous SNV |
INPPL1:NM_001567:exon9:c.A987G:p.S329S |
RS2276048 |
Arthritis including
non-Rheumatoid:HDL cholesterol change with statins:Gene expression of FOLR3
in peripheral blood monocytes:Asthma:Gene expression of FOLR2 in liver:Gene
expression of ILI8BP in blood:Variant Creutzfeldt-Jakob
disease:Salmonella-induced pyroptosis:Primary rhegmatogenous retinal
detachment:Transmission distortion:Gene expression of INPPL1 (probeID
ILMN_1728426) in temporal cortex in Alzheimer's disease cases and
controls:Birth weight:Gene expression of INPPL1 (probeID ILMN_1728426) in cerebellum
in Alzheimer's disease cases and controls |
|
11 |
71942104 |
1 |
INPPL1 |
C |
T |
exonic |
synonymous SNV |
INPPL1:NM_001567:exon12:c.C1368T:p.D456D |
|
11 |
71943960 |
1 |
INPPL1 |
C |
A |
exonic |
synonymous SNV |
INPPL1:NM_001567:exon16:c.C1893A:p.L631L |
|
11 |
71943961 |
1 |
INPPL1 |
C |
A |
exonic |
nonsynonymous SNV |
INPPL1:NM_001567:exon16:c.C1894A:p.L632I |
|
11 |
71948536 |
1 |
INPPL1 |
C |
G |
exonic |
nonsynonymous SNV |
INPPL1:NM_001567:exon26:c.C3248G:p.A1083G |
RS11548491 |
Stroke |
|
11 |
72946140 |
2 |
P2RY2 |
G |
C |
exonic |
nonsynonymous SNV |
P2RY2:NM_002564:exon3:c.G936C:p.R312S,P2RY2:NM_176071:exon3:c.G936C:p.R312S,P2RY2:NM_176072:exon3:c.G936C:p.R312S |
|
11 |
73825503 |
2 |
C2CD3 |
T |
C |
exonic |
synonymous SNV |
C2CD3:NM_001286577:exon10:c.A1656G:p.P552P,C2CD3:NM_015531:exon10:c.A1656G:p.P552P |
RS10898957 |
Comorbid depressive syndrome and
alcohol dependence:Bipolar disorder:Salmonella-induced pyroptosis |
|
11 |
74203308 |
1 |
LIPT2 |
T |
A |
exonic |
nonsynonymous SNV |
LIPT2:NM_001144869:exon2:c.A568T:p.T190S |
RS586088 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy):Refractive error:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
11 |
74559446 |
1 |
XRRA1 |
G |
C |
exonic |
nonsynonymous SNV |
XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R |
RS4944960 |
Gene expression of XRRA1 [probe
230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe
237666_at] in lymphoblastoid cell lines:HDL cholesterol:Tardive
dyskinesia:Lp-PLA2 activity:Height:Body mass index (BMI):College
completion:Years of education |
|
11 |
74705696 |
2 |
NEU3 |
T |
C |
exonic |
synonymous SNV |
NEU3:NM_006656:exon2:c.T237C:p.S79S |
RS544115 |
Serum creatinine:Total
cholesterol:LDL cholesterol:Height:Body mass index (BMI):Gene expression
change of NEU3 (ENSG00000162139) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of XRRA1 in normal prepouch
ileum:Coronary artery disease (CAD):Gene expression of NEU3 (ENSG00000162139)
in dendritic cells treated with Mycobacterium tuberculosis:Infant head
circumference |
|
11 |
74883559 |
1 |
SLCO2B1 |
G |
A |
exonic |
nonsynonymous SNV |
SLCO2B1:NM_001145212:exon4:c.G485A:p.R162H,SLCO2B1:NM_001145211:exon7:c.G851A:p.R284H,SLCO2B1:NM_007256:exon7:c.G917A:p.R306H |
|
11 |
74904362 |
2 |
SLCO2B1 |
T |
C |
exonic |
nonsynonymous SNV |
SLCO2B1:NM_001145212:exon6:c.T743C:p.I248T,SLCO2B1:NM_001145211:exon9:c.T1109C:p.I370T,SLCO2B1:NM_007256:exon9:c.T1175C:p.I392T |
|
11 |
76507692 |
2 |
TSKU |
T |
A |
exonic |
nonsynonymous SNV |
TSKU:NM_001258210:exon2:c.T1032A:p.D344E,TSKU:NM_001318477:exon2:c.T1074A:p.D358E,TSKU:NM_001318478:exon2:c.T1032A:p.D344E,TSKU:NM_001318479:exon2:c.T1032A:p.D344E,TSKU:NM_015516:exon2:c.T1032A:p.D344E |
|
11 |
76637651 |
2 |
ACER3 |
G |
A |
exonic |
nonsynonymous SNV |
ACER3:NM_018367:exon2:c.G154A:p.V52I |
RS4379869 |
Gene expression of PHCA in blood
cells in Celiac disease:Differential exon level expression of PHCA [probe
3341083] in brain cortex:Differential exon level expression of PHCA [probe
3341092] in brain cortex:Differential exon level expression of PHCA [probe
3341092] in peripheral blood mononuclear cells:Differential exon level
expression of PHCA [probe 3341083] in peripheral blood mononuclear
cells:Fasting insulin:Rheumatoid arthritis:Gene expression of PHCA in
blood:Hypertension (early onset hypertension) |
|
11 |
76637680 |
2 |
ACER3 |
G |
A |
exonic |
synonymous SNV |
ACER3:NM_018367:exon2:c.G183A:p.K61K |
|
11 |
76868372 |
1 |
MYO7A |
T |
C |
exonic |
synonymous SNV |
MYO7A:NM_000260:exon8:c.T783C:p.G261G,MYO7A:NM_001127179:exon8:c.T783C:p.G261G,MYO7A:NM_001127180:exon8:c.T783C:p.G261G |
RS762667 |
Schizophrenia:Total cholesterol
change with statins:LDL cholesterol change with statins:Pulse pressure:Gene
expression of MYO7A [probeset 211103_at] in sputum |
|
11 |
76917220 |
1 |
MYO7A |
A |
G |
exonic |
synonymous SNV |
MYO7A:NM_000260:exon41:c.A5715G:p.K1905K,MYO7A:NM_001127180:exon41:c.A5601G:p.K1867K |
RS2276293 |
Fasting blood glucose:Childhood
acute lymphoblastic leukemia:HDL cholesterol change with statins:Mitral
annular calcium |
|
11 |
77790653 |
2 |
NDUFC2;NDUFC2-KCTD14 |
T |
C |
exonic |
synonymous SNV |
NDUFC2-KCTD14:NM_001203260:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203261:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203262:exon1:c.A138G:p.L46L,NDUFC2:NM_001204054:exon1:c.A138G:p.L46L,NDUFC2:NM_001204055:exon1:c.A138G:p.L46L,NDUFC2:NM_004549:exon1:c.A138G:p.L46L |
|
11 |
77790655 |
1 |
NDUFC2;NDUFC2-KCTD14 |
G |
C |
exonic |
nonsynonymous SNV |
NDUFC2-KCTD14:NM_001203260:exon1:c.C136G:p.L46V,NDUFC2-KCTD14:NM_001203261:exon1:c.C136G:p.L46V,NDUFC2-KCTD14:NM_001203262:exon1:c.C136G:p.L46V,NDUFC2:NM_001204054:exon1:c.C136G:p.L46V,NDUFC2:NM_001204055:exon1:c.C136G:p.L46V,NDUFC2:NM_004549:exon1:c.C136G:p.L46V |
|
11 |
77825320 |
1 |
ALG8 |
T |
C |
exonic |
nonsynonymous SNV |
ALG8:NM_001007027:exon6:c.A665G:p.N222S,ALG8:NM_024079:exon6:c.A665G:p.N222S |
RS665278 |
LDL
cholesterol:Schizophrenia:Cystatin C in serum:Refractive error |
|
11 |
77921527 |
2 |
USP35 |
G |
C |
exonic |
nonsynonymous SNV |
USP35:NM_020798:exon10:c.G2626C:p.A876P |
RS2512526 |
Body mass index (BMI):Mitral annular
calcium |
|
11 |
78277277 |
2 |
NARS2 |
A |
G |
exonic |
synonymous SNV |
NARS2:NM_024678:exon4:c.T414C:p.Y138Y |
RS10751296 |
Simpson-Angus Scale:Gene expression
of NARS2 [probe 219217_at] in prefrontal cortex:Serum creatinine:Gene
expression of NARS2 in peripheral blood monocytes:Total cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of NARS2 (probeID ILMN_1797332)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of NARS2 (probeID ILMN_1797332) in cerebellum in Alzheimer's disease cases
and controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
11 |
78279790 |
2 |
NARS2 |
T |
G |
exonic |
nonsynonymous SNV |
NARS2:NM_024678:exon3:c.A260C:p.N87T |
RS10501429 |
Gene expression of EFHA2 in
liver:Gene expression of HSS00063588 in liver:Eye color:Gene expression of
NARS2 [probe 3383322] in brain cortex:Serum creatinine:Total
cholesterol:Asthma:Gene expression of NARS2 [probe ILMN_13605] in osteoblasts
treated with BMP2:Urinary albumin-to-creatinine ratio:Gene expression of
NARS2 in blood:Age at death with kuru exposure:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
NARS2 (probeID ILMN_1797332) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of NARS2 in normal prepouch ileum:Gene expression of
NARS2 (ENSG00000137513) in dendritic cells:Gene expression of NARS2
(ENSG00000137513) in dendritic cells treated with Mycobacterium tuberculosis:Gene
expression of NARS2 (probeID ILMN_1797332) in temporal cortex in Alzheimer's
disease cases and controls |
|
11 |
82875359 |
1 |
PCF11 |
G |
A |
exonic |
synonymous SNV |
PCF11:NM_001346413:exon4:c.G618A:p.Q206Q,PCF11:NM_001346414:exon4:c.G618A:p.Q206Q,PCF11:NM_001346415:exon4:c.G618A:p.Q206Q,PCF11:NM_015885:exon4:c.G618A:p.Q206Q |
RS7130527 |
Fasting blood glucose:Advanced
age-related macular degeneration |
|
11 |
82879951 |
1 |
PCF11 |
A |
T |
exonic |
synonymous SNV |
PCF11:NM_001346413:exon8:c.A2967T:p.G989G,PCF11:NM_001346414:exon8:c.A2967T:p.G989G,PCF11:NM_001346415:exon8:c.A2574T:p.G858G,PCF11:NM_015885:exon8:c.A2574T:p.G858G |
|
11 |
82880341 |
1 |
PCF11 |
G |
A |
exonic |
synonymous SNV |
PCF11:NM_001346413:exon8:c.G3357A:p.Q1119Q,PCF11:NM_001346414:exon8:c.G3357A:p.Q1119Q,PCF11:NM_001346415:exon8:c.G2964A:p.Q988Q,PCF11:NM_015885:exon8:c.G2964A:p.Q988Q |
RS12284052 |
Fasting blood glucose:Advanced
age-related macular degeneration |
|
11 |
82996986 |
2 |
CCDC90B |
A |
C |
exonic |
nonsynonymous SNV |
CCDC90B:NM_021825:exon1:c.T30G:p.F10L |
RS494791 |
Partial
epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
11 |
85374993 |
1 |
CREBZF |
C |
T |
exonic |
synonymous SNV |
CREBZF:NM_001039618:exon1:c.G927A:p.P309P |
RS1192 |
Advanced age-related macular
degeneration:College completion:Years of education:Advanced age-related
macular degeneration (geographic atrophy) |
|
11 |
85725937 |
1 |
PICALM |
C |
T |
exonic |
synonymous SNV |
PICALM:NM_001008660:exon5:c.G522A:p.Q174Q,PICALM:NM_001206946:exon5:c.G522A:p.Q174Q,PICALM:NM_001206947:exon5:c.G369A:p.Q123Q,PICALM:NM_007166:exon5:c.G522A:p.Q174Q |
RS592297 |
Alzheimer's disease:2 hour
glucose:Fasting blood glucose:Cystatin C in serum:Serum creatinine:Gene
expression of PICALM (ENSG00000073921) in dendritic cells |
|
11 |
87013438 |
2 |
TMEM135 |
G |
A |
exonic |
nonsynonymous SNV |
TMEM135:NM_001168724:exon7:c.G586A:p.G196R,TMEM135:NM_022918:exon8:c.G652A:p.G218R |
RS2276102 |
Spine bone mineral density (BMD):Eye
color:Schizophrenia:Rheumatoid arthritis |
|
11 |
88027209 |
2 |
CTSC |
T |
C |
exonic |
nonsynonymous SNV |
CTSC:NM_001814:exon7:c.A1357G:p.I453V |
RS3888798 |
Barnes Akathisia Rating Scale |
|
11 |
88027393 |
2 |
CTSC |
A |
C |
exonic |
synonymous SNV |
CTSC:NM_001814:exon7:c.T1173G:p.T391T |
|
11 |
88045583 |
2 |
CTSC |
A |
G |
exonic |
nonsynonymous SNV |
CTSC:NM_001814:exon3:c.T458C:p.I153T |
RS217086 |
Differential exon level expression
of CTSC [probe 3385778] in brain cortex:Differential exon level expression of
CTSC [probe 3385778] in peripheral blood mononuclear cells:Partial
epilepsy:Gene expression of CTSC in CD4+ lymphocytes:Gene expression of CTSC
in blood:Obesity with early age of onset (age >2):Advanced age-related
macular degeneration (geographic atrophy) |
|
11 |
89868755 |
2 |
NAALAD2 |
G |
A |
exonic |
synonymous SNV |
NAALAD2:NM_001300930:exon2:c.G111A:p.T37T,NAALAD2:NM_005467:exon2:c.G111A:p.T37T |
RS10734123 |
Parkinson's disease (PD):Maternal
transmission distortion |
|
11 |
89935586 |
2 |
CHORDC1 |
G |
T |
exonic |
nonsynonymous SNV |
CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,CHORDC1:NM_012124:exon11:c.C986A:p.A329D |
RS1045861 |
Years of education:College
completion:Obesity with early age of onset (age >2) |
|
11 |
93212254 |
2 |
SMCO4 |
C |
T |
exonic |
synonymous SNV |
SMCO4:NM_020179:exon3:c.G102A:p.V34V |
|
11 |
93462846 |
1 |
CEP295 |
C |
T |
exonic |
nonsynonymous SNV |
CEP295:NM_033395:exon27:c.C7466T:p.S2489L |
|
11 |
93517874 |
1 |
MED17 |
C |
G |
exonic |
synonymous SNV |
MED17:NM_004268:exon1:c.C195G:p.G65G |
|
11 |
93517886 |
1 |
MED17 |
G |
C |
exonic |
nonsynonymous SNV |
MED17:NM_004268:exon1:c.G207C:p.E69D |
|
11 |
93862493 |
2 |
PANX1 |
A |
C |
exonic |
nonsynonymous SNV |
PANX1:NM_015368:exon1:c.A15C:p.Q5H |
RS1138800 |
Total cholesterol change with
statins:Autism with high IQ:Autism |
|
11 |
94862577 |
1 |
ENDOD1 |
G |
T |
exonic |
nonsynonymous SNV |
ENDOD1:NM_015036:exon2:c.G1337T:p.G446V |
RS3740861 |
Amyotrophic lateral sclerosis
(ALS):HDL cholesterol:LDL cholesterol:Waist hip ratio:Gene expression of
ENDOD1 in blood:Salmonella-induced pyroptosis |
|
11 |
95512060 |
1 |
FAM76B |
A |
G |
exonic |
synonymous SNV |
FAM76B:NM_001330357:exon8:c.T751C:p.L251L,FAM76B:NM_144664:exon8:c.T754C:p.L252L |
RS1150360 |
Gene expression of FAM76B in blood
cells in Celiac disease:Total cholesterol:Rheumatoid arthritis:LDL
cholesterol:Total cholesterol:Gene expression of FAM76B in CD4+
lymphocytes:Gene expression of FAM76B in blood:Comorbid depressive syndrome
and alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of CEP57 in normal prepouch ileum |
|
11 |
95546226 |
1 |
CEP57 |
G |
C |
exonic |
nonsynonymous SNV |
CEP57:NM_001243777:exon3:c.G333C:p.Q111H,CEP57:NM_014679:exon3:c.G333C:p.Q111H,CEP57:NM_001243776:exon4:c.G306C:p.Q102H |
|
11 |
102196019 |
1 |
BIRC3 |
A |
G |
exonic |
nonsynonymous SNV |
BIRC3:NM_001165:exon2:c.A779G:p.K260R,BIRC3:NM_182962:exon3:c.A779G:p.K260R |
|
11 |
104819327 |
2 |
CASP4 |
T |
C |
exonic |
synonymous SNV |
CASP4:NM_001225:exon6:c.A858G:p.L286L,CASP4:NM_033306:exon6:c.A690G:p.L230L |
|
11 |
107992346 |
1 |
ACAT1 |
G |
C |
exonic |
nonsynonymous SNV |
ACAT1:NM_000019:exon1:c.G13C:p.A5P |
RS3741056 |
Total cholesterol:Total
cholesterol:HDL cholesterol |
|
11 |
108009660 |
1 |
ACAT1 |
C |
A |
exonic |
synonymous SNV |
ACAT1:NM_000019:exon6:c.C471A:p.S157S |
|
11 |
108183167 |
2 |
ATM |
A |
G |
exonic |
nonsynonymous SNV |
ATM:NM_000051:exon40:c.A5948G:p.N1983S |
|
11 |
108224537 |
1 |
ATM |
G |
A |
exonic |
nonsynonymous SNV |
ATM:NM_000051:exon60:c.G8716A:p.V2906I |
|
11 |
111179054 |
2 |
COLCA2 |
A |
G |
exonic |
synonymous SNV |
COLCA2:NM_001136105:exon5:c.A357G:p.A119A,COLCA2:NM_001271457:exon5:c.A357G:p.A119A,COLCA2:NM_001271458:exon5:c.A648G:p.A216A |
|
11 |
111724133 |
1 |
ALG9 |
C |
T |
exonic |
nonsynonymous SNV |
ALG9:NM_001077691:exon8:c.G352A:p.V118I,ALG9:NM_001077692:exon8:c.G352A:p.V118I,ALG9:NM_001077690:exon9:c.G865A:p.V289I,ALG9:NM_024740:exon9:c.G865A:p.V289I |
RS10502151 |
Irritible bowel
syndrome:Alzheimer's disease:HDL cholesterol:Waist hip ratio:College
completion:Years of education:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
11 |
111754574 |
1 |
C11orf1 |
A |
C |
exonic |
nonsynonymous SNV |
C11orf1:NM_001330371:exon3:c.A356C:p.Q119P |
RS1045282 |
Triglycerides change with
statins:College completion:Advanced age-related macular degeneration:Gene
expression of C11orf52 (ENSG00000149300) in dendritic cells treated with
Mycobacterium tuberculosis:Years of education |
|
11 |
111896324 |
1 |
DLAT |
C |
T |
exonic |
nonsynonymous SNV |
DLAT:NM_001931:exon1:c.C128T:p.A43V |
RS2303436 |
Gene expression of PPP2R1B in
peripheral blood monocytes:HDL cholesterol:Gene expression of C11orf57 in
CD4+ lymphocytes:Waist hip ratio:Gene expression of C11orf34 in blood:College
completion:Lymphocyte count |
|
11 |
111908162 |
1 |
DLAT |
T |
C |
exonic |
nonsynonymous SNV |
DLAT:NM_001931:exon6:c.T953C:p.V318A |
RS627441 |
HDL cholesterol:Gene expression of
C11orf57 in CD4+ lymphocytes:Waist hip ratio:Gene expression of C11orf34 in
blood:Age at death with kuru exposure:College completion |
|
11 |
111916647 |
1 |
DLAT |
G |
A |
exonic |
nonsynonymous SNV |
DLAT:NM_001931:exon10:c.G1351A:p.D451N |
RS10891314 |
Total cholesterol:HDL
cholesterol:Gene expression of C11orf57 in CD4+ lymphocytes:Gene expression
of C11orf34 in blood:Age at death with kuru exposure:College completion |
|
11 |
113670052 |
2 |
USP28 |
T |
A |
exonic |
synonymous SNV |
USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T |
|
11 |
113679119 |
1 |
USP28 |
C |
T |
exonic |
synonymous SNV |
USP28:NM_001346268:exon14:c.G1206A:p.S402S,USP28:NM_001301029:exon16:c.G1830A:p.S610S,USP28:NM_001346260:exon16:c.G1833A:p.S611S,USP28:NM_001346261:exon16:c.G1830A:p.S610S,USP28:NM_001346264:exon16:c.G1206A:p.S402S,USP28:NM_001346267:exon16:c.G1206A:p.S402S,USP28:NM_001346253:exon17:c.G2127A:p.S709S,USP28:NM_001346257:exon17:c.G2127A:p.S709S,USP28:NM_001346259:exon17:c.G2127A:p.S709S,USP28:NM_001346262:exon17:c.G1830A:p.S610S,USP28:NM_001346263:exon17:c.G1344A:p.S448S,USP28:NM_001346269:exon17:c.G1149A:p.S383S,USP28:NM_001346272:exon17:c.G1149A:p.S383S,USP28:NM_001346252:exon18:c.G2205A:p.S735S,USP28:NM_001346254:exon18:c.G2208A:p.S736S,USP28:NM_001346258:exon18:c.G2205A:p.S735S,USP28:NM_020886:exon18:c.G2205A:p.S735S,USP28:NM_001346255:exon19:c.G2196A:p.S732S,USP28:NM_001346265:exon19:c.G1149A:p.S383S,USP28:NM_001346271:exon19:c.G1149A:p.S383S,USP28:NM_001346270:exon20:c.G1149A:p.S383S |
RS2465647 |
Fasting blood glucose:Serum
creatinine:Rheumatoid arthritis:Age-related macular degeneration |
|
11 |
116633825 |
1 |
BUD13 |
C |
T |
exonic |
synonymous SNV |
BUD13:NM_001159736:exon4:c.G480A:p.P160P,BUD13:NM_032725:exon4:c.G480A:p.P160P |
RS918144 |
HDL cholesterol:Total cholesterol
change with statins:Triglycerides change with statins:Triglycerides:LDL
cholesterol:HDL cholesterol:Microalbuminuria |
|
11 |
116692334 |
2 |
APOA4 |
C |
T |
exonic |
nonsynonymous SNV |
APOA4:NM_000482:exon3:c.G440A:p.S147N |
|
11 |
116693464 |
2 |
APOA4 |
C |
T |
exonic |
synonymous SNV |
APOA4:NM_000482:exon2:c.G87A:p.T29T |
|
11 |
116701535 |
1 |
APOC3 |
T |
C |
exonic |
synonymous SNV |
APOC3:NM_000040:exon3:c.T102C:p.G34G |
|
11 |
116728630 |
1 |
SIK3 |
G |
C |
exonic |
nonsynonymous SNV |
SIK3:NM_001281749:exon20:c.C3227G:p.P1076R,SIK3:NM_025164:exon20:c.C3407G:p.P1136R,SIK3:NM_001281748:exon21:c.C2750G:p.P917R |
RS12225230 |
HDL cholesterol:LDL cholesterol:HDL
cholesterol:APOA1 (apolipoprotein AI):HDL cholesterol lipoprotein fraction
concentration by NMR in fasting sample:APOA1 assay lipoprotein fraction
concentration:HDL cholesterol lipoprotein fraction concentration by NMR:APOA1
assay lipoprotein fraction concentration in fasting sample:HDL
cholesterol:HDL cholesterol change with statins:Lp-PLA2
activity:Triglycerides:LDL cholesterol:Total cholesterol:HDL
cholesterol:Height:Triglycerides:HDL cholesterol |
|
11 |
116729161 |
1 |
SIK3 |
T |
C |
exonic |
nonsynonymous SNV |
SIK3:NM_001281749:exon20:c.A2696G:p.Y899C,SIK3:NM_025164:exon20:c.A2876G:p.Y959C,SIK3:NM_001281748:exon21:c.A2219G:p.Y740C |
|
11 |
117097952 |
1 |
PCSK7 |
C |
T |
exonic |
synonymous SNV |
PCSK7:NM_004716:exon5:c.G690A:p.T230T |
RS2306473 |
Fasting blood glucose:Cystatin C in
serum:LDL cholesterol:Total cholesterol:Triglycerides:Bipolar
disorder:Triglycerides:Coronary artery disease (CAD):Mitral annular calcium |
|
11 |
117163824 |
2 |
BACE1 |
C |
G |
exonic |
synonymous SNV |
BACE1:NM_001207048:exon4:c.G486C:p.V162V,BACE1:NM_001207049:exon4:c.G411C:p.V137V,BACE1:NM_012104:exon5:c.G786C:p.V262V,BACE1:NM_138971:exon5:c.G654C:p.V218V,BACE1:NM_138972:exon5:c.G711C:p.V237V,BACE1:NM_138973:exon5:c.G579C:p.V193V |
RS638405 |
Triglycerides:2 hour glucose:Total
cholesterol:Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP) |
|
11 |
117252489 |
1 |
CEP164 |
T |
C |
exonic |
synonymous SNV |
CEP164:NM_001271933:exon12:c.T1491C:p.P497P,CEP164:NM_014956:exon13:c.T1482C:p.P494P |
|
11 |
117261853 |
1 |
CEP164 |
C |
T |
exonic |
synonymous SNV |
CEP164:NM_001271933:exon16:c.C2214T:p.S738S,CEP164:NM_014956:exon17:c.C2205T:p.S735S |
RS494553 |
LDL
cholesterol:Triglycerides:College completion |
|
11 |
117267884 |
1 |
CEP164 |
A |
G |
exonic |
nonsynonymous SNV |
CEP164:NM_001271933:exon26:c.A3365G:p.Q1122R,CEP164:NM_014956:exon27:c.A3356G:p.Q1119R |
RS573455 |
Triglycerides:HDL
cholesterol:Height:Diastolic blood pressure (DBP):Coronary artery disease
(CAD) |
|
11 |
117282800 |
2 |
CEP164 |
G |
T |
exonic |
synonymous SNV |
CEP164:NM_001271933:exon32:c.G4284T:p.S1428S,CEP164:NM_014956:exon33:c.G4299T:p.S1433S |
RS522885 |
Childhood acute lymphoblastic
leukemia:Cystatin C in serum:Comorbid depressive syndrome and alcohol
dependence |
|
11 |
118074337 |
2 |
JAML |
A |
G |
exonic |
nonsynonymous SNV |
JAML:NM_001286570:exon5:c.T461C:p.V154A,JAML:NM_001286571:exon5:c.T461C:p.V154A,JAML:NM_153206:exon5:c.T548C:p.V183A,JAML:NM_001098526:exon6:c.T578C:p.V193A |
RS1793174 |
LDL
cholesterol:Triglycerides:Triglycerides change with statins:Total
cholesterol:LDL cholesterol:Gene expression of IL10RA in liver:Gene
expression of AMICA1 in blood:Gene expression of MPZL2 in blood:Diastolic
blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Obesity with early age
of onset (age >2) |
|
11 |
118081345 |
1 |
JAML |
A |
T |
exonic |
nonsynonymous SNV |
JAML:NM_001286570:exon3:c.T164A:p.I55N,JAML:NM_001286571:exon3:c.T164A:p.I55N,JAML:NM_153206:exon3:c.T251A:p.I84N,JAML:NM_001098526:exon4:c.T281A:p.I94N |
RS17121881 |
Methylation levels at
chr11:117640056-117640106 [hg18 coord, probe cg18399703] in Frontal
cortex:Methylation levels at chr11:117640056-117640106 [hg18 coord, probe
cg18399703] in Temporal cortex:Urinary albumin-to-creatinine ratio |
|
11 |
118107805 |
2 |
MPZL3 |
A |
G |
exonic |
synonymous SNV |
MPZL3:NM_001286152:exon3:c.T375C:p.H125H,MPZL3:NM_198275:exon3:c.T411C:p.H137H |
RS1793140 |
LDL
cholesterol:Triglycerides:Fasting blood glucose:Methylation levels at
chr11:117627875-117627925 [hg18 coord, probe cg06491116] in Frontal
cortex:Total cholesterol:LDL cholesterol:Height:Diastolic blood pressure
(DBP):Obesity with early age of onset (age >2) |
|
11 |
118110977 |
2 |
MPZL3 |
T |
C |
exonic |
synonymous SNV |
MPZL3:NM_001286152:exon2:c.A153G:p.K51K,MPZL3:NM_198275:exon2:c.A189G:p.K63K |
RS2853006 |
Triglycerides:LDL cholesterol:Serum
creatinine:Methylation levels at chr11:117627875-117627925 [hg18 coord, probe
cg06491116] in Frontal cortex:Total cholesterol:LDL
cholesterol:Height:Diastolic blood pressure (DBP) |
|
11 |
118430519 |
1 |
IFT46 |
C |
T |
exonic |
nonsynonymous SNV |
IFT46:NM_001168618:exon3:c.G26A:p.C9Y,IFT46:NM_020153:exon3:c.G26A:p.C9Y |
RS11552421 |
LDL cholesterol:HDL
cholesterol:Gene expression of TMEM25 in Lymphoblastoid cell lines:Gene
expression of TMEM25 in Fibroblasts:Gene expression of TMEM25 in T cells:Gene
expression of TMEM25 [probe ILMN_1263] in osteoblasts:Gene expression of
C11orf60 [probe ILMN_1651745] in peripheral leukocytes:Autism without verbal
ability:Total cholesterol:LDL cholesterol:Gene expression of TMEM25 in CD4+
lymphocytes:Gene expression of TMEM25 [probe ILMN_1263] in untreated
osteoblasts:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts
treated with BMP2:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts
treated with PGE2:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts
treated with dexamethasone:Gene expression of TMEM25 in liver:Gene expression
of IFT46 in normal prepouch ileum:Gene expression of TMEM25 (probeID
ILMN_1651745) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of TMEM25 (probeID ILMN_1651745) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of TMEM25 (probeID ILMN_1651745)
in cerebellum in non-Alzheimer's disease samples:Gene expression of TMEM25
(probeID ILMN_1651745) in cerebellum in Alzheimer's disease cases |
|
11 |
118471423 |
1 |
ARCN1 |
T |
C |
exonic |
synonymous SNV |
ARCN1:NM_001142281:exon9:c.T1266C:p.I422I,ARCN1:NM_001655:exon10:c.T1530C:p.I510I |
RS11216925 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Rheumatoid arthritis:Autism without verbal
ability:LDL cholesterol:Total cholesterol:Waist hip ratio:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
IFT46 in normal prepouch ileum |
|
11 |
118769442 |
1 |
BCL9L |
A |
G |
exonic |
synonymous SNV |
BCL9L:NM_182557:exon8:c.T4182C:p.P1394P |
|
11 |
118919206 |
2 |
HYOU1 |
T |
C |
exonic |
synonymous SNV |
HYOU1:NM_001130991:exon19:c.A2235G:p.A745A,HYOU1:NM_006389:exon19:c.A2235G:p.A745A |
RS568922 |
Major depressive disorder:Gene
expression of VPS11 in peripheral blood monocytes:Gene expression of HMBS in
peripheral blood monocytes:Gene expression of HMBS in CD4+
lymphocytes:Neuroblastoma (brain cancer):Gene expression of VPS11 [probe
ILMN_13229] in osteoblasts treated with PGE2:Gene expression of HMBS///H2AFX
in blood:Gene expression of VPS11 in blood:Gene expression of HMBS in
blood:Hypertension (early onset hypertension):Gene expression of C2CD2L
(ENSG00000172375) in dendritic cells:Gene expression change of C2CD2L
(ENSG00000172375) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
11 |
118940957 |
2 |
VPS11 |
C |
G |
exonic |
unknown |
UNKNOWN |
RS1784302 |
Body mass index (BMI):Years of
education:Gene expression of HMBS (probeID ILMN_1726306) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of HMBS (probeID
ILMN_1726306) in cerebellum in Alzheimer's disease cases and controls |
|
11 |
118949331 |
2 |
VPS11 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS1177562 |
Body mass index (BMI):Years of
education:Gene expression of HMBS (probeID ILMN_1726306) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of HMBS (probeID
ILMN_1726306) in cerebellum in Alzheimer's disease cases and controls |
|
11 |
119005088 |
2 |
HINFP |
C |
T |
exonic |
synonymous SNV |
HINFP:NM_198971:exon10:c.C1434T:p.I478I,HINFP:NM_015517:exon11:c.C1434T:p.I478I |
RS512703 |
Premature ovarian failure:HDL
cholesterol change with statins:Serum creatinine:Gene expression of MIZF in
peripheral blood monocytes:Gene expression of HMBS in peripheral blood
monocytes:Gene expression of NANOS1 in peripheral blood monocytes:Gene expression
of MIZF in blood:Gene expression of DPAGT1 in blood:Advanced age-related
macular degeneration (geographic atrophy) |
|
11 |
119206375 |
1 |
RNF26 |
G |
A |
exonic |
synonymous SNV |
RNF26:NM_032015:exon1:c.G543A:p.T181T |
RS2511841 |
Rheumatoid
arthritis:Triglycerides:Total cholesterol:LDL cholesterol:Plasma brain
natriuretic peptide (BNP):Gene expression of ABCG4 [probe ILMN_10212] in
osteoblasts treated with BMP2:Gene expression of NOD9 [probe ILMN_16473] in
osteoblasts treated with PGE2:Gene expression of ABCG4 [probe ILMN_10212] in
osteoblasts treated with bmp:Bipolar disorder:Variant Creutzfeldt-Jakob
disease:Tetrology of fallot:Transmission distortion |
|
11 |
120099658 |
2 |
OAF |
A |
G |
exonic |
nonsynonymous SNV |
OAF:NM_178507:exon4:c.A629G:p.H210R |
|
11 |
120099679 |
2 |
OAF |
G |
A |
exonic |
nonsynonymous SNV |
OAF:NM_178507:exon4:c.G650A:p.R217H |
RS2508490 |
Partial epilepsy:Gene expression of
OAF in blood |
|
11 |
120328858 |
2 |
ARHGEF12 |
T |
C |
exonic |
synonymous SNV |
ARHGEF12:NM_001198665:exon24:c.T2238C:p.D746D,ARHGEF12:NM_001301084:exon25:c.T1986C:p.D662D,ARHGEF12:NM_015313:exon25:c.T2295C:p.D765D |
RS766894 |
Height:Waist hip ratio:PROP taste
detection threshold |
|
11 |
121367626 |
1 |
SORL1 |
T |
C |
exonic |
synonymous SNV |
SORL1:NM_003105:exon6:c.T807C:p.H269H |
RS12364988 |
Autism:LDL cholesterol:Total
cholesterol:Comorbid depressive syndrome and alcohol dependence:Birth
weight:Mitral annular calcium |
|
11 |
121393684 |
1 |
SORL1 |
G |
A |
exonic |
nonsynonymous SNV |
SORL1:NM_003105:exon11:c.G1582A:p.A528T |
RS2298813 |
HDL cholesterol change with
statins:LDL cholesterol:Total cholesterol:Comorbid depressive syndrome and
alcohol dependence:Sporadic Creutzfeldt-Jakob disease |
|
11 |
121403229 |
2 |
SORL1 |
T |
C |
exonic |
synonymous SNV |
SORL1:NM_003105:exon12:c.T1653C:p.A551A |
|
11 |
121425955 |
1 |
SORL1 |
A |
T |
exonic |
synonymous SNV |
SORL1:NM_003105:exon18:c.A2499T:p.T833T |
|
11 |
121456962 |
2 |
SORL1 |
C |
T |
exonic |
synonymous SNV |
SORL1:NM_003105:exon27:c.C3738T:p.N1246N |
RS1699102 |
LDL cholesterol:Alzheimer's
disease:Autism with low IQ:Total cholesterol:LDL
cholesterol:Triglycerides:College completion |
|
11 |
121491782 |
2 |
SORL1 |
G |
A |
exonic |
nonsynonymous SNV |
SORL1:NM_003105:exon44:c.G5899A:p.V1967I |
|
11 |
123597083 |
1 |
ZNF202 |
C |
T |
exonic |
synonymous SNV |
ZNF202:NM_001301819:exon6:c.G897A:p.V299V,ZNF202:NM_001301780:exon7:c.G1569A:p.V523V,ZNF202:NM_001301779:exon8:c.G1569A:p.V523V,ZNF202:NM_003455:exon9:c.G1569A:p.V523V |
|
11 |
123600475 |
1 |
ZNF202 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF202:NM_001301780:exon3:c.T461C:p.V154A,ZNF202:NM_001301779:exon4:c.T461C:p.V154A,ZNF202:NM_003455:exon5:c.T461C:p.V154A |
RS1144507 |
Triglycerides:LDL cholesterol
change with statins:Total cholesterol change with
statins:Height:Neuroblastoma (brain cancer):Serum soluble transferrin
receptor, ferritin-index (log):Gene expression of OR10S1 [probe ILMN_21810]
in osteoblasts treated with PGE2:Gene expression of OR10S1 [probe ILMN_21810]
in osteoblasts treated with pge-2:Diastolic blood pressure (DBP):Infant head
circumference:Primary rhegmatogenous retinal detachment |
|
11 |
124524627 |
1 |
SIAE |
A |
G |
exonic |
synonymous SNV |
SIAE:NM_170601:exon4:c.T468C:p.S156S,SIAE:NM_001199922:exon6:c.T363C:p.S121S |
RS1942663 |
Gene expression of SPA17 in JPT
lymphoblastoid cell lines |
|
11 |
125465862 |
2 |
STT3A |
T |
C |
exonic |
synonymous SNV |
STT3A:NM_152713:exon2:c.T52C:p.L18L,STT3A:NM_001278503:exon3:c.T52C:p.L18L |
RS10082632 |
Fasting insulin:Comorbid depressive
syndrome and alcohol dependence |
|
11 |
125476252 |
2 |
STT3A |
C |
G |
exonic |
synonymous SNV |
STT3A:NM_001278504:exon7:c.C396G:p.L132L,STT3A:NM_152713:exon8:c.C672G:p.L224L,STT3A:NM_001278503:exon9:c.C672G:p.L224L |
|
11 |
125479363 |
2 |
STT3A |
G |
A |
exonic |
synonymous SNV |
STT3A:NM_001278504:exon9:c.G720A:p.S240S,STT3A:NM_152713:exon10:c.G996A:p.S332S,STT3A:NM_001278503:exon11:c.G996A:p.S332S |
RS2241502 |
Triglycerides:LDL cholesterol:Gene
expression of STT3A [transcript NM_152713, probe A_32_P27327] in liver |
|
11 |
125484044 |
1 |
STT3A |
A |
G |
exonic |
synonymous SNV |
STT3A:NM_001278504:exon13:c.A1341G:p.T447T,STT3A:NM_152713:exon14:c.A1617G:p.T539T,STT3A:NM_001278503:exon15:c.A1617G:p.T539T |
RS12276729 |
Serum creatinine:HOMA-IR |
|
11 |
125488404 |
2 |
STT3A |
C |
T |
exonic |
synonymous SNV |
STT3A:NM_001278504:exon15:c.C1635T:p.C545C,STT3A:NM_152713:exon16:c.C1911T:p.C637C,STT3A:NM_001278503:exon17:c.C1911T:p.C637C |
RS17140116 |
LDL cholesterol:Comorbid depressive
syndrome and alcohol dependence |
|
11 |
125495740 |
2 |
CHEK1 |
A |
G |
exonic |
nonsynonymous SNV |
CHEK1:NM_001330427:exon1:c.A85G:p.T29A |
|
11 |
125495746 |
2 |
CHEK1 |
C |
G |
exonic |
nonsynonymous SNV |
CHEK1:NM_001330427:exon1:c.C91G:p.P31A |
|
11 |
125525195 |
2 |
CHEK1 |
A |
G |
exonic |
nonsynonymous SNV |
CHEK1:NM_001244846:exon12:c.A1309G:p.I437V,CHEK1:NM_001330427:exon12:c.A1459G:p.I487V,CHEK1:NM_001330428:exon12:c.A1129G:p.I377V,CHEK1:NM_001114121:exon13:c.A1411G:p.I471V,CHEK1:NM_001114122:exon13:c.A1411G:p.I471V,CHEK1:NM_001274:exon13:c.A1411G:p.I471V |
RS506504 |
HOMA-B:HDL cholesterol change with
statins:Triglycerides:Waist hip ratio |
|
11 |
126162862 |
1 |
TIRAP |
C |
T |
exonic |
synonymous SNV |
TIRAP:NM_001318776:exon4:c.C558T:p.A186A,TIRAP:NM_001318777:exon4:c.C558T:p.A186A,TIRAP:NM_001039661:exon5:c.C558T:p.A186A,TIRAP:NM_148910:exon5:c.C558T:p.A186A |
RS7932766 |
LDL cholesterol:HDL
cholesterol:Triglycerides change with statins:LDL cholesterol:Total
cholesterol:Height:Coronary artery disease (CAD) |
|
11 |
126176578 |
2 |
DCPS |
G |
A |
exonic |
synonymous SNV |
DCPS:NM_001350236:exon2:c.G336A:p.Q112Q,DCPS:NM_014026:exon2:c.G315A:p.Q105Q |
RS637462 |
HDL cholesterol:Cystatin C in
serum:Gene expression of FOXRED1 in normal prepouch ileum:Gene expression
change of FOXRED1 (ENSG00000110074) in dendritic cells after treatment with
Mycobacterium tuberculosis:Refractive error |
|
11 |
126201403 |
1 |
DCPS |
T |
C |
exonic |
synonymous SNV |
DCPS:NM_001350236:exon3:c.T501C:p.N167N,DCPS:NM_014026:exon3:c.T480C:p.N160N |
|
11 |
129794950 |
2 |
PRDM10 |
T |
C |
exonic |
nonsynonymous SNV |
PRDM10:NM_199439:exon8:c.A1447G:p.T483A,PRDM10:NM_199438:exon9:c.A1459G:p.T487A,PRDM10:NM_199437:exon12:c.A1705G:p.T569A,PRDM10:NM_020228:exon13:c.A1717G:p.T573A |
RS2241571 |
Triglycerides:Triglycerides:High
myopia:Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression
of TMEM45B in blood:Comorbid depressive syndrome and alcohol
dependence:Paternal transmission distortion:Transmission distortion |
|
11 |
129801043 |
2 |
PRDM10 |
C |
T |
exonic |
synonymous SNV |
PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q |
RS2277033 |
Triglycerides |
|
11 |
130420006 |
2 |
|
11 |
134062645 |
1 |
NCAPD3 |
C |
G |
exonic |
nonsynonymous SNV |
NCAPD3:NM_015261:exon16:c.G1984C:p.D662H |
|
11 |
153039502 |
2 |
|
11 |
153278829 |
2 |
|
11 |
153657083 |
2 |
|
12 |
662448 |
2 |
B4GALNT3 |
T |
C |
exonic |
synonymous SNV |
B4GALNT3:NM_173593:exon14:c.T1359C:p.L453L |
RS758790 |
HDL cholesterol change with
statins:Obsessive-compulsive disorder (OCD) |
|
12 |
662838 |
1 |
B4GALNT3 |
T |
C |
exonic |
synonymous SNV |
B4GALNT3:NM_173593:exon14:c.T1749C:p.P583P |
|
12 |
862989 |
2 |
WNK1 |
T |
C |
exonic |
synonymous SNV |
WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C |
|
12 |
939302 |
2 |
WNK1 |
A |
G |
exonic |
synonymous SNV |
WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A |
RS10774466 |
Gene expression of RAD52 [probe
210630_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic
leukemia:Gene expression of FKBP9L in peripheral blood monocytes:Advanced
age-related macular degeneration:Years of education:Advanced age-related macular
degeneration (geographic atrophy) |
|
12 |
987482 |
1 |
WNK1 |
G |
A |
exonic |
synonymous SNV |
WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q |
RS1012729 |
Gene expression of RAD52 [probe
210630_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement
Scale:Lp-PLA2 mass:Gene expression of SERP1 in peripheral blood
monocytes:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (geographic atrophy) |
|
12 |
990912 |
2 |
WNK1 |
A |
C |
exonic |
nonsynonymous SNV |
WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P |
RS956868 |
LDL cholesterol:Total
cholesterol:Lp-PLA2 mass |
|
12 |
993930 |
1 |
WNK1 |
C |
T |
exonic |
synonymous SNV |
WNK1:NM_014823:exon17:c.C3219T:p.N1073N,WNK1:NM_001184985:exon19:c.C4740T:p.N1580N,WNK1:NM_018979:exon19:c.C3960T:p.N1320N,WNK1:NM_213655:exon19:c.C4716T:p.N1572N |
RS7300444 |
Gene expression of RAD52 [probe
210630_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Birth weight |
|
12 |
994487 |
2 |
WNK1 |
G |
C |
exonic |
nonsynonymous SNV |
WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S |
RS7955371 |
Triglycerides |
|
12 |
2064666 |
1 |
DCP1B |
T |
C |
exonic |
nonsynonymous SNV |
DCP1B:NM_152640:exon6:c.A583G:p.N195D |
|
12 |
2968169 |
1 |
FOXM1 |
A |
G |
exonic |
nonsynonymous SNV |
FOXM1:NM_001243088:exon8:c.T1882C:p.S628P,FOXM1:NM_001243089:exon8:c.T1879C:p.S627P,FOXM1:NM_202003:exon8:c.T1882C:p.S628P,FOXM1:NM_021953:exon9:c.T1927C:p.S643P,FOXM1:NM_202002:exon10:c.T2041C:p.S681P |
RS3742076 |
Chronic kidney disease:Waist hip
ratio |
|
12 |
2968458 |
2 |
FOXM1 |
T |
C |
exonic |
synonymous SNV |
FOXM1:NM_001243088:exon8:c.A1593G:p.R531R,FOXM1:NM_001243089:exon8:c.A1590G:p.R530R,FOXM1:NM_202003:exon8:c.A1593G:p.R531R,FOXM1:NM_021953:exon9:c.A1638G:p.R546R,FOXM1:NM_202002:exon10:c.A1752G:p.R584R |
|
12 |
3387697 |
1 |
TSPAN9 |
T |
C |
exonic |
synonymous SNV |
TSPAN9:NM_001168320:exon3:c.T174C:p.I58I,TSPAN9:NM_006675:exon4:c.T174C:p.I58I |
RS16930370 |
Serum creatinine:Parkinson's
disease:Adiponectin levels |
|
12 |
3389601 |
1 |
TSPAN9 |
C |
T |
exonic |
synonymous SNV |
TSPAN9:NM_001168320:exon5:c.C384T:p.T128T,TSPAN9:NM_006675:exon6:c.C384T:p.T128T |
|
12 |
4722717 |
1 |
DYRK4 |
A |
T |
exonic |
nonsynonymous SNV |
DYRK4:NM_001282285:exon5:c.A503T:p.D168V,DYRK4:NM_001282286:exon5:c.A500T:p.D167V,DYRK4:NM_003845:exon13:c.A1361T:p.D454V |
RS1801016 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale |
|
12 |
6427052 |
1 |
PLEKHG6 |
C |
T |
exonic |
synonymous SNV |
PLEKHG6:NM_001144857:exon9:c.C951T:p.H317H,PLEKHG6:NM_001144856:exon10:c.C1047T:p.H349H,PLEKHG6:NM_018173:exon10:c.C1047T:p.H349H |
RS1468603 |
LDL cholesterol change with
statins:Triglycerides:Comorbid depressive syndrome and alcohol dependence |
|
12 |
6457062 |
1 |
SCNN1A |
T |
C |
exonic |
nonsynonymous SNV |
SCNN1A:NM_001159576:exon12:c.A2164G:p.T722A,SCNN1A:NM_001038:exon13:c.A1987G:p.T663A,SCNN1A:NM_001159575:exon13:c.A2056G:p.T686A |
RS2228576 |
HDL cholesterol:Asthma:Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Cognitive response to
topiramate treatment as measured by the ChangePC1 (overall cognition)
cognitive test:Cognitive response of healthy volunteers to topiramate
treatment as measure by the Delayed Story Recall cognitive test:Cognitive
response of healthy volunteers to topiramate treatment as measure by the
Immediate Story Recall cognitive test:Cognitive response of healthy
volunteers to topiramate treatment as measure by the TrailsB cognitive
test:Adiponectin levels:Paternal transmission distortion |
|
12 |
6495275 |
2 |
LTBR |
C |
A |
exonic |
synonymous SNV |
LTBR:NM_001270987:exon5:c.C459A:p.A153A,LTBR:NM_002342:exon5:c.C516A:p.A172A |
RS2364480 |
HDL cholesterol:Gene expression of
LTBR in Fibroblasts:LDL cholesterol:Total cholesterol:Gene expression of LTBR
[probe ILMN_30110] in osteoblasts treated with PGE2:Gene expression of LTBR
[probe ILMN_30110] in untreated osteoblasts:Gene expression of LTBR [probe
ILMN_30110] in osteoblasts treated with BMP2:Microalbuminuria:Non-Hodgkin
lymphoma (Diffuse large B-cell lymphoma):Gene expression of LTBR in
blood:Gene expression of IFFO1 in blood:Aortic valve calcium:Gene expression
of LTBR (ENSG00000111321) in dendritic cells:Rheumatoid factor-negative
polyarticular juvenile idiopathic arthritis:Gene expression of LTBR in normal
prepouch ileum:Juvenile idiopathic arthritis (including oligoarticular and
rheumatoid factor-negative polyarticular JIA):Oligoarticular juvenile
idiopathic arthritis:Gene expression of LTBR (ENSG00000111321) in dendritic
cells treated with Mycobacterium tuberculosis |
|
12 |
6562753 |
2 |
TAPBPL |
A |
G |
exonic |
nonsynonymous SNV |
TAPBPL:NM_018009:exon3:c.A436G:p.M146V,TAPBPL:NM_001351355:exon4:c.A46G:p.M16V |
RS2532501 |
Gene expression of VAMP1 [probe
207100_s_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe
218747_s_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe
218746_at] in lymphoblastoid cell lines:Gene expression of VAMP1 [probe 207101_at]
in lymphoblastoid cell lines:Gene expression of TAPBPL in lymphoblastoid cell
lines:Gene expression of VAMP1 in lymphoblastoid cell lines:Gene expression
of CND1_HUMAN in blood cells in Celiac disease:Premature ovarian
failure:Total cholesterol:Gene expression of CNAP1 in Cerebellum:Autism with
verbal ability:Gene expression of TAPBPL in CD4+ lymphocytes:Gene expression
of NCAPD2 in CD4+ lymphocytes:Gene expression of CNAP1 [probe ILMN_26621] in
osteoblasts treated with dexamethasone:Gene expression of VAMP1 [probe
ILMN_10438] in osteoblasts treated with PGE2:Gene expression of GAPDH in
blood:Gene expression of TAPBPL///VAMP1 in blood:Gene expression of IFFO1 in
blood:Gene expression of NCAPD2 in blood:Gene expression of MRPL51 in
blood:Bipolar disorder:Gene expression of NCAPD2 (probeID ILMN_1775008) in
cerebellum in non-Alzheimer's disease samples:Gene expression of VAMP1
(probeID ILMN_1737611) in temporal cortex in Alzheimer's disease cases:Gene
expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases:Gene
expression of VAMP1 (probeID ILMN_1737611) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of TAPBPL in normal prepouch
ileum:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in
Alzheimer's disease cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
VAMP1 (probeID ILMN_1737611) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in
Progressive Supranuclear Palsy cases:Primary rhegmatogenous retinal
detachment:Gene expression of VAMP1 in normal prepouch ileum:Gene expression
of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease
cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of VAMP1 (probeID
ILMN_1737611) in cerebellum in non-Alzheimer's disease samples |
|
12 |
6562810 |
2 |
TAPBPL |
A |
G |
exonic |
nonsynonymous SNV |
TAPBPL:NM_018009:exon3:c.A493G:p.T165A,TAPBPL:NM_001351355:exon4:c.A103G:p.T35A |
RS2532500 |
Total cholesterol:Gene expression
of CNAP1 in Cerebellum:Gene expression of NCAPD2 (probeID ILMN_1775008) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases and
controls |
|
12 |
6631169 |
1 |
NCAPD2 |
C |
A |
exonic |
synonymous SNV |
NCAPD2:NM_014865:exon15:c.C1920A:p.I640I |
RS917634 |
Gene expression of TAPBPL [probe
218747_s_at] in lymphoblastoid cell lines:Gene expression of VAMP1 [probe
213326_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe
218746_at] in lymphoblastoid cell lines:Gene expression of VAMP1 in lymphoblastoid
cell lines:Gene expression of TAPBPL in lymphoblastoid cell lines:Hip bone
mineral density (BMD):Gene expression of CND1_HUMAN in blood cells in Celiac
disease:Total cholesterol:Gene expression of CNAP1 in Cerebellum:Gene
expression of CNAP1 in Temporal cortex:Gene expression of MRPL51 in
peripheral blood monocytes:Gene expression of VAMP1 in peripheral blood
monocytes:Gene expression of NCAPD2 in peripheral blood monocytes:Gene
expression of TAPBPL in peripheral blood monocytes:Total cholesterol:LDL
cholesterol:Gene expression of NCAPD2 in CD4+ lymphocytes:Gene expression of
CNAP1 [probe ILMN_26621] in untreated osteoblasts:Gene expression of MRPL51
in blood:Gene expression of NCAPD2 in blood:Gene expression of TAPBPL///VAMP1
in blood:Gene expression of GAPDH in blood:Gene expression of NCAPD2 (probeID
ILMN_1775008) in cerebellum in Alzheimer's disease cases:Gene expression of
NCAPD2 (probeID ILMN_1775008) in cerebellum in non-Alzheimer's disease
samples:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of NCAPD2 (probeID
ILMN_1775008) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of TAPBPL in normal prepouch ileum:Gene expression of VAMP1 in
normal prepouch ileum:Gene expression of NCAPD2 (probeID ILMN_1775008) in
temporal cortex in Alzheimer's disease cases:Gene expression of TAPBPL
(probeID ILMN_1805449) in temporal cortex in Alzheimer's disease cases and
controls:Glioma:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of TAPBPL
(probeID ILMN_1805449) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex
in Alzheimer's disease cases and controls |
|
12 |
6639088 |
1 |
NCAPD2 |
A |
G |
exonic |
synonymous SNV |
NCAPD2:NM_014865:exon29:c.A3801G:p.V1267V |
RS1043262 |
Gene expression of LPAR5 in
peripheral blood monocytes:Gene expression of NCAPD2 in peripheral blood
monocytes:Gene expression of TAPBPL in peripheral blood monocytes:Gene
expression of VAMP1 in peripheral blood monocytes:Triglycerides:HDL
cholesterol:Prostate cancer |
|
12 |
6646320 |
1 |
GAPDH |
T |
C |
exonic |
synonymous SNV |
GAPDH:NM_001256799:exon5:c.T255C:p.D85D,GAPDH:NM_001289746:exon5:c.T381C:p.D127D,GAPDH:NM_001289745:exon6:c.T381C:p.D127D,GAPDH:NM_002046:exon6:c.T381C:p.D127D |
|
12 |
6647109 |
1 |
GAPDH |
T |
C |
exonic |
synonymous SNV |
GAPDH:NM_001256799:exon7:c.T759C:p.F253F,GAPDH:NM_001289746:exon7:c.T885C:p.F295F,GAPDH:NM_001289745:exon8:c.T885C:p.F295F,GAPDH:NM_002046:exon8:c.T885C:p.F295F |
RS1803621 |
Methylation levels at
chr12:6474451-6474501 [hg18 coord, probe cg10383428] in Cerebellum |
|
12 |
6939850 |
1 |
P3H3 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS10744716 |
HIV-1 set point:Gene expression of
GNB3 in normal prepouch ileum |
|
12 |
6940492 |
1 |
P3H3 |
G |
A |
exonic |
unknown |
UNKNOWN |
|
12 |
6954864 |
1 |
GNB3 |
G |
A |
exonic |
nonsynonymous SNV |
GNB3:NM_001297571:exon9:c.G811A:p.G271S,GNB3:NM_002075:exon9:c.G814A:p.G272S |
RS5442 |
Myopia:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Salmonella-induced
pyroptosis:Advanced age-related macular degeneration |
|
12 |
7065635 |
1 |
PTPN6 |
T |
C |
exonic |
synonymous SNV |
PTPN6:NM_002831:exon9:c.T978C:p.G326G,PTPN6:NM_080548:exon9:c.T984C:p.G328G,PTPN6:NM_080549:exon9:c.T978C:p.G326G |
|
12 |
7090193 |
1 |
LPCAT3 |
A |
G |
exonic |
nonsynonymous SNV |
LPCAT3:NM_005768:exon6:c.T650C:p.I217T |
RS1984564 |
Differential exon level expression
of MBOAT5 [probe 3442446] in peripheral blood mononuclear cells:HOMA-B:HDL
cholesterol change with statins:Triglycerides change with statins:Gene
expression of EMG1///LPCAT3 in blood:Gene expression of ATN1 in normal prepouch
ileum |
|
12 |
7091918 |
1 |
LPCAT3 |
C |
T |
exonic |
synonymous SNV |
LPCAT3:NM_005768:exon3:c.G285A:p.L95L |
RS3764031 |
HOMA-B:Fasting insulin:HDL
cholesterol change with statins:Triglycerides change with statins:Gene
expression of ATN1 in normal prepouch ileum |
|
12 |
7170336 |
1 |
C1S |
G |
A |
exonic |
nonsynonymous SNV |
C1S:NM_001734:exon4:c.G356A:p.R119H,C1S:NM_201442:exon4:c.G356A:p.R119H |
RS12146727 |
Body mass index (BMI):Myocardial
infarction (MI), sudden cardiac arrest in patients with coronary artery
disease (CAD):College completion:Advanced age-related macular
degeneration:Coronary artery disease (CAD):Birth weight:Advanced age-related
macular degeneration (geographic atrophy):Years of education |
|
12 |
7945576 |
2 |
NANOG |
T |
C |
exonic |
nonsynonymous SNV |
NANOG:NM_001297698:exon2:c.T182C:p.L61P,NANOG:NM_024865:exon2:c.T182C:p.L61P |
|
12 |
7945591 |
2 |
NANOG |
C |
A |
exonic |
nonsynonymous SNV |
NANOG:NM_001297698:exon2:c.C197A:p.P66H,NANOG:NM_024865:exon2:c.C197A:p.P66H |
|
12 |
9074259 |
2 |
PHC1 |
C |
T |
exonic |
synonymous SNV |
PHC1:NM_004426:exon5:c.C369T:p.P123P |
RS1805741 |
Total cholesterol:Waist hip ratio |
|
12 |
9083336 |
2 |
PHC1 |
A |
G |
exonic |
synonymous SNV |
PHC1:NM_004426:exon7:c.A918G:p.R306R |
|
12 |
9086553 |
1 |
PHC1 |
G |
A |
exonic |
synonymous SNV |
PHC1:NM_004426:exon9:c.G1986A:p.K662K |
|
12 |
9086898 |
1 |
PHC1 |
A |
G |
exonic |
nonsynonymous SNV |
PHC1:NM_004426:exon10:c.A2077G:p.T693A |
RS1049925 |
Triglycerides:Simpson-Angus
Scale:Gene expression of KLRG1 (probeID ILMN_2124920) in cerebellum in
Alzheimer's disease cases and controls:Birth weight:Gene expression of KLRG1
(probeID ILMN_2124920) in temporal cortex in Alzheimer's disease cases and
controls |
|
12 |
9090528 |
1 |
PHC1 |
G |
A |
exonic |
nonsynonymous SNV |
PHC1:NM_004426:exon14:c.G2732A:p.R911H |
|
12 |
9248233 |
2 |
A2M |
T |
C |
exonic |
nonsynonymous SNV |
A2M:NM_001347425:exon15:c.A1465G:p.N489D,A2M:NM_000014:exon16:c.A1915G:p.N639D,A2M:NM_001347424:exon16:c.A1615G:p.N539D,A2M:NM_001347423:exon17:c.A1915G:p.N639D |
|
12 |
10999708 |
1 |
PRR4 |
T |
C |
exonic |
nonsynonymous SNV |
PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R |
RS1047699 |
Rheumatoid arthritis:Gene
expression of PRH1 in normal prepouch ileum:Gene expression of PRH1 (probeID
ILMN_2210534) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of PRR4 in normal
prepouch ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of PRH1 (probeID ILMN_2210534)
in cerebellum in Alzheimer's disease cases:Gene expression of PRH1 (probeID
ILMN_2210534) in temporal cortex in Alzheimer's disease cases:Gene expression
of PRH1 (probeID ILMN_2210534) in cerebellum in non-Alzheimer's disease
samples:Gene expression of TAS2R13 in normal prepouch ileum:Gene expression
of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R43 in normal
prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of TAS2R31 in normal
prepouch ileum |
|
12 |
10999780 |
1 |
PRR4 |
C |
T |
exonic |
nonsynonymous SNV |
PRR4:NM_007244:exon3:c.G287A:p.R96Q |
RS1063193 |
Gene expression of PROL4 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Methylation levels at
chr12:11354646-11354696 [hg18 coord, probe cg14076161] in Temporal
cortex:Methylation levels at chr12:11399184-11399234 [hg18 coord, probe
cg04520391] in Temporal cortex:Methylation levels at chr12:11400800-11400850
[hg18 coord, probe cg27345534] in Temporal cortex:PROP taste detection
threshold:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of TAS2R46 in normal prepouch
ileum:Gene expression of TAS2R14 in normal prepouch ileum:Gene expression of
PRB4 in normal prepouch ileum:Gene expression of TAS2R14 (probeID
ILMN_1801349) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TAS2R19 in normal prepouch ileum:Gene expression of TAS2R14
(probeID ILMN_1801349) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TAS2R10 in normal prepouch ileum:Gene expression
of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R31 in normal
prepouch ileum:Gene expression of TAS2R20 in normal prepouch ileum:Gene
expression of PRR4 in normal prepouch ileum:Gene expression of PRH1 in normal
prepouch ileum:Gene expression of TAS2R9 in normal prepouch ileum:Advanced
age-related macular degeneration:Gene expression of TAS2R13 in normal
prepouch ileum |
|
12 |
11323994 |
1 |
SMIM10L1 |
G |
A |
exonic |
synonymous SNV |
SMIM10L1:NM_001271592:exon1:c.G39A:p.R13R |
|
12 |
12284915 |
1 |
LRP6 |
G |
A |
exonic |
synonymous SNV |
LRP6:NM_002336:exon18:c.C3810T:p.C1270C |
RS1012672 |
Lung function, predicted ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Premature ovarian failure |
|
12 |
12483275 |
2 |
MANSC1 |
G |
A |
exonic |
synonymous SNV |
MANSC1:NM_018050:exon4:c.C982T:p.L328L |
RS1861676 |
PROP taste detection threshold |
|
12 |
12483713 |
2 |
MANSC1 |
A |
G |
exonic |
synonymous SNV |
MANSC1:NM_018050:exon4:c.T544C:p.L182L |
RS4763282 |
LDL cholesterol:Serum
creatinine:PROP taste detection threshold |
|
12 |
12814818 |
2 |
GPR19 |
C |
T |
exonic |
nonsynonymous SNV |
GPR19:NM_006143:exon4:c.G565A:p.V189I |
RS4763862 |
Breast cancer:Refractive error |
|
12 |
14982352 |
1 |
ART4 |
G |
C |
exonic |
nonsynonymous SNV |
ART4:NM_021071:exon3:c.C898G:p.L300V |
RS3088190 |
2 hour glucose:Triglycerides change
with statins:Cystatin C in serum:Gene expression of ERP27 in peripheral blood
monocytes:Parkinson's disease |
|
12 |
14993439 |
1 |
ART4 |
C |
T |
exonic |
nonsynonymous SNV |
ART4:NM_021071:exon2:c.G793A:p.D265N |
RS11276 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of ERP27 in blood:Gene expression
of MGP in blood:Breast cancer:Parkinson's disease:Tetrology of fallot |
|
12 |
14993608 |
1 |
ART4 |
G |
A |
exonic |
synonymous SNV |
ART4:NM_021071:exon2:c.C624T:p.L208L |
RS3088189 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio:Parkinson's disease |
|
12 |
14993854 |
1 |
ART4 |
A |
G |
exonic |
synonymous SNV |
ART4:NM_021071:exon2:c.T378C:p.Y126Y |
RS1861698 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of ERP27 in blood:Gene expression
of MGP in blood:Tetrology of fallot:Parkinson's disease |
|
12 |
16035712 |
1 |
STRAP |
G |
A |
exonic |
nonsynonymous SNV |
STRAP:NM_007178:exon1:c.G71A:p.G24D |
|
12 |
22602796 |
2 |
C2CD5 |
A |
G |
exonic |
synonymous SNV |
C2CD5:NM_014802:exon25:c.T2901C:p.D967D,C2CD5:NM_001286174:exon26:c.T3054C:p.D1018D,C2CD5:NM_001286176:exon27:c.T3054C:p.D1018D,C2CD5:NM_001286177:exon27:c.T3027C:p.D1009D,C2CD5:NM_001286173:exon28:c.T3060C:p.D1020D,C2CD5:NM_001286175:exon28:c.T3063C:p.D1021D |
|
12 |
26733062 |
1 |
ITPR2 |
T |
C |
exonic |
synonymous SNV |
ITPR2:NM_002223:exon33:c.A4407G:p.K1469K |
RS2230375 |
Diastolic blood pressure
(DBP):Sporadic Creutzfeldt-Jakob disease:Refractive error |
|
12 |
26806955 |
1 |
ITPR2 |
G |
A |
exonic |
synonymous SNV |
ITPR2:NM_002223:exon21:c.C2694T:p.A898A |
RS2230380 |
Total cholesterol:Body mass index
(BMI):Refractive error:Birth weight |
|
12 |
26809412 |
1 |
ITPR2 |
T |
G |
exonic |
synonymous SNV |
ITPR2:NM_002223:exon19:c.A2262C:p.T754T |
RS2230378 |
Fasting blood glucose:Birth weight |
|
12 |
27064232 |
1 |
INTS13 |
C |
T |
exonic |
synonymous SNV |
INTS13:NM_018164:exon15:c.G1824A:p.E608E |
RS3210635 |
HDL
cholesterol:Schizophrenia:Differential exon level expression of C12orf11
[probe 3448439] in peripheral blood mononuclear cells:Differential exon level
expression of C12orf11 [probe 3448439] in brain cortex:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:HDL
cholesterol:Height:Adiponectin levels:Gene expression of ITPR2
(ENSG00000123104) in dendritic cells treated with Mycobacterium
tuberculosis:Hypertension (early onset hypertension):Advanced age-related
macular degeneration (geographic atrophy) |
|
12 |
27143508 |
1 |
TM7SF3 |
G |
A |
exonic |
nonsynonymous SNV |
TM7SF3:NM_016551:exon6:c.C743T:p.P248L |
RS10771314 |
Schizophrenia:Lp-PLA2
mass:Endometriosis:Autism:Endometriosis:Microalbuminuria:Bipolar disorder |
|
12 |
27470866 |
2 |
STK38L |
G |
A |
exonic |
synonymous SNV |
STK38L:NM_015000:exon11:c.G993A:p.T331T |
|
12 |
27800746 |
2 |
PPFIBP1 |
G |
T |
exonic |
nonsynonymous SNV |
PPFIBP1:NM_001198916:exon6:c.G442T:p.V148L,PPFIBP1:NM_003622:exon6:c.G442T:p.V148L,PPFIBP1:NM_177444:exon6:c.G442T:p.V148L |
|
12 |
30823971 |
1 |
IPO8 |
A |
G |
exonic |
synonymous SNV |
IPO8:NM_001190995:exon5:c.T354C:p.L118L,IPO8:NM_006390:exon9:c.T969C:p.L323L |
RS1054426 |
LDL cholesterol:Total
cholesterol:Chronic kidney disease:Serum creatinine:LDL cholesterol:Total
cholesterol:Systolic blood pressure (SBP):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of IPO8 (probeID ILMN_1753164)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases
and controls:Advanced age-related macular degeneration (geographic atrophy) |
|
12 |
30868002 |
1 |
CAPRIN2 |
C |
T |
exonic |
synonymous SNV |
CAPRIN2:NM_001206856:exon14:c.G2373A:p.V791V,CAPRIN2:NM_001319842:exon14:c.G1539A:p.V513V,CAPRIN2:NM_023925:exon14:c.G2391A:p.V797V,CAPRIN2:NM_001002259:exon15:c.G2541A:p.V847V,CAPRIN2:NM_001319843:exon15:c.G2538A:p.V846V,CAPRIN2:NM_001319844:exon15:c.G2193A:p.V731V,CAPRIN2:NM_032156:exon15:c.G2538A:p.V846V,CAPRIN2:NM_001319845:exon16:c.G2298A:p.V766V,CAPRIN2:NM_001319846:exon16:c.G2298A:p.V766V |
RS13656 |
LDL cholesterol:Chronic kidney
disease:Advanced age-related macular degeneration:Gene expression of IPO8
(probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
12 |
30881809 |
1 |
CAPRIN2 |
T |
C |
exonic |
nonsynonymous SNV |
CAPRIN2:NM_001319842:exon7:c.A556G:p.M186V,CAPRIN2:NM_001002259:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001206856:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001319843:exon8:c.A1555G:p.M519V,CAPRIN2:NM_023925:exon8:c.A1555G:p.M519V,CAPRIN2:NM_032156:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001319844:exon9:c.A1312G:p.M438V,CAPRIN2:NM_001319845:exon9:c.A1312G:p.M438V,CAPRIN2:NM_001319846:exon9:c.A1312G:p.M438V |
RS2304630 |
LDL cholesterol:Gene expression of
IPO8 in blood cells in Celiac disease:Differential exon level expression of
IPO8 [probe 3449350] in brain cortex:Gene expression of IPO8 [probe
ILMN_15237] in osteoblasts:Chronic kidney disease:Gene expression of IPO8 in
CD4+ lymphocytes:Gene expression of CAPRIN2 in blood:Gene expression of IPO8
in liver:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in
Alzheimer's disease cases:Gene expression of IPO8 (probeID ILMN_1753164) in
temporal cortex in Progressive Supranuclear Palsy cases:Advanced age-related
macular degeneration (geographic atrophy):Gene expression of IPO8 (probeID
ILMN_1753164) in cerebellum in non-Alzheimer's disease samples:Gene
expression of IPO8 (probeID ILMN_1753164) in cerebellum in Progressive
Supranuclear Palsy cases:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene
expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases |
|
12 |
30888001 |
1 |
CAPRIN2 |
T |
C |
exonic |
nonsynonymous SNV |
CAPRIN2:NM_001002259:exon4:c.A710G:p.K237R,CAPRIN2:NM_001206856:exon4:c.A710G:p.K237R,CAPRIN2:NM_001319843:exon4:c.A710G:p.K237R,CAPRIN2:NM_023925:exon4:c.A710G:p.K237R,CAPRIN2:NM_032156:exon4:c.A710G:p.K237R,CAPRIN2:NM_001319844:exon5:c.A467G:p.K156R,CAPRIN2:NM_001319845:exon5:c.A467G:p.K156R,CAPRIN2:NM_001319846:exon5:c.A467G:p.K156R |
RS12146709 |
Gene expression of IPO8 in blood
cells in Celiac disease:Simpson-Angus Scale:Chronic kidney disease:Lp-PLA2
mass:Gene expression of IPO8 in CD4+ lymphocytes:Waist hip
ratio:Neuroblastoma (brain cancer):Gene expression of IPO8 (probeID
ILMN_1753164) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's
disease cases and controls:Endometriosis:Gene expression of IPO8 (probeID
ILMN_1753164) in cerebellum in non-Alzheimer's disease samples:Gene
expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's
disease cases:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID
ILMN_1753164) in cerebellum in Alzheimer's disease cases:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
12 |
31255392 |
1 |
DDX11 |
G |
A |
exonic |
nonsynonymous SNV |
DDX11:NM_004399:exon22:c.G2153A:p.G718E,DDX11:NM_001257144:exon23:c.G2303A:p.G768E,DDX11:NM_001257145:exon23:c.G2225A:p.G742E,DDX11:NM_030653:exon23:c.G2303A:p.G768E,DDX11:NM_152438:exon23:c.G2303A:p.G768E |
|
12 |
31256615 |
1 |
DDX11 |
C |
A |
exonic |
nonsynonymous SNV |
DDX11:NM_004399:exon25:c.C2491A:p.R831S,DDX11:NM_001257144:exon26:c.C2636A:p.P879Q,DDX11:NM_001257145:exon26:c.C2563A:p.R855S,DDX11:NM_030653:exon26:c.C2641A:p.R881S,DDX11:NM_152438:exon26:c.C2636A:p.P879Q |
|
12 |
32134943 |
2 |
KIAA1551 |
A |
G |
exonic |
nonsynonymous SNV |
KIAA1551:NM_018169:exon4:c.A1054G:p.S352G |
|
12 |
32135441 |
2 |
KIAA1551 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA1551:NM_018169:exon4:c.T1552C:p.S518P |
RS3759301 |
Gene expression of hmm30082 in JPT
lymphoblastoid cell lines |
|
12 |
32135938 |
2 |
KIAA1551 |
A |
G |
exonic |
synonymous SNV |
KIAA1551:NM_018169:exon4:c.A2049G:p.Q683Q |
RS11051718 |
2 hour glucose:HOMA-B:Obesity with
early age of onset (age >2) |
|
12 |
32735236 |
2 |
FGD4 |
C |
T |
exonic |
synonymous SNV |
FGD4:NM_001330373:exon3:c.C156T:p.D52D,FGD4:NM_001330374:exon3:c.C156T:p.D52D,FGD4:NM_001304480:exon4:c.C771T:p.D257D,FGD4:NM_001304481:exon4:c.C690T:p.D230D,FGD4:NM_139241:exon4:c.C435T:p.D145D |
RS904582 |
Cystatin C in serum:Height:College
completion:Refractive error:Years of education |
|
12 |
33021934 |
1 |
PKP2 |
A |
G |
exonic |
nonsynonymous SNV |
PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P |
RS1046116 |
Rheumatoid arthritis:Adiponectin
levels:Tetrology of fallot:Obesity with early age of onset (age >2) |
|
12 |
39713776 |
1 |
KIF21A |
C |
A |
exonic |
nonsynonymous SNV |
KIF21A:NM_001173463:exon26:c.G3651T:p.E1217D,KIF21A:NM_001173465:exon26:c.G3603T:p.E1201D,KIF21A:NM_017641:exon27:c.G3672T:p.E1224D,KIF21A:NM_001173464:exon28:c.G3711T:p.E1237D |
|
12 |
42481732 |
2 |
GXYLT1 |
G |
A |
exonic |
synonymous SNV |
GXYLT1:NM_001099650:exon7:c.C1086T:p.D362D,GXYLT1:NM_173601:exon8:c.C1179T:p.D393D |
RS7972986 |
Gene expression of TMEM205 in
peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Aortic valve
calcium:Breast cancer |
|
12 |
42839836 |
2 |
PPHLN1 |
A |
C |
exonic |
nonsynonymous SNV |
PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P |
|
12 |
46322449 |
1 |
SCAF11 |
C |
T |
exonic |
synonymous SNV |
SCAF11:NM_004719:exon11:c.G1035A:p.G345G |
RS10880868 |
Serum creatinine:Cystatin C in
serum:Rheumatoid arthritis:Height:Parkinson's disease:Mitral annular
calcium:Salmonella-induced pyroptosis:Infant head circumference |
|
12 |
48736985 |
1 |
ZNF641 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF641:NM_001172682:exon5:c.A1019C:p.Q340P,ZNF641:NM_001172681:exon6:c.A1046C:p.Q349P,ZNF641:NM_152320:exon7:c.A1088C:p.Q363P |
RS2732481 |
HDL cholesterol:Simpson-Angus
Scale:Serum creatinine:Chronic kidney disease:HDL cholesterol:Gene expression
of ZNF641 in blood:Gene expression of ASB8 in blood:Years of
education:College completion |
|
12 |
48737245 |
1 |
ZNF641 |
A |
C |
exonic |
synonymous SNV |
ZNF641:NM_001172682:exon5:c.T759G:p.G253G,ZNF641:NM_001172681:exon6:c.T786G:p.G262G,ZNF641:NM_152320:exon7:c.T828G:p.G276G |
RS2732484 |
HDL cholesterol:Chronic kidney
disease:Serum creatinine:HDL cholesterol:Years of education:College
completion |
|
12 |
49177113 |
2 |
ADCY6 |
T |
G |
exonic |
synonymous SNV |
ADCY6:NM_015270:exon2:c.A105C:p.A35A |
|
12 |
49230035 |
1 |
DDX23 |
T |
G |
exonic |
synonymous SNV |
DDX23:NM_004818:exon11:c.A1251C:p.I417I |
RS1057908 |
Serum creatinine:Years of
education:Tetrology of fallot:College completion |
|
12 |
49334762 |
2 |
ARF3 |
G |
C |
exonic |
synonymous SNV |
ARF3:NM_001659:exon2:c.C117G:p.L39L |
RS12122 |
Total
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Aortic valve
calcium |
|
12 |
50503269 |
1 |
GPD1 |
C |
T |
exonic |
synonymous SNV |
GPD1:NM_001257199:exon8:c.C948T:p.I316I,GPD1:NM_005276:exon8:c.C1017T:p.I339I |
RS836180 |
HOMA-B:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Mitral annular calcium |
|
12 |
50537815 |
1 |
CERS5 |
A |
G |
exonic |
nonsynonymous SNV |
CERS5:NM_001331070:exon2:c.T223C:p.C75R,CERS5:NM_001331071:exon2:c.T223C:p.C75R,CERS5:NM_147190:exon2:c.T223C:p.C75R,CERS5:NM_001281731:exon3:c.T49C:p.C17R,CERS5:NM_001331069:exon3:c.T49C:p.C17R |
RS7302981 |
HOMA-B:LASS5 gene expression in
HIV-infected CD4+ T cells:Gene expression of LIMA1 in peripheral blood
monocytes:Gene expression of DIP2B in peripheral blood monocytes:Gene
expression of PRG2 in peripheral blood monocytes:Gene expression of LASS5 in
peripheral blood monocytes:Gene expression of MRPL11 in peripheral blood
monocytes:Gene expression of LIMA1 in blood:Gene expression of LASS5 in
blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene
expression of LASS5 [probeset 224951_at] in sputum:Age at death with kuru
exposure:Gene expression of LASS5 (probeID ILMN_2208495) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of LASS5 (probeID
ILMN_2208495) in cerebellum in Alzheimer's disease cases:Mitral annular calcium:Gene
expression of LASS5 (probeID ILMN_2208495) in cerebellum in non-Alzheimer's
disease samples:Gene expression of LASS5 (probeID ILMN_2208495) in breast
tumors:Gene expression of LASS5 (probeID ILMN_2208495) in temporal cortex in
Alzheimer's disease cases:Gene expression of LASS5 (probeID ILMN_2208495) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
LASS5 (probeID ILMN_2208495) in cerebellum in Alzheimer's disease cases and
controls |
|
12 |
51135275 |
2 |
DIP2B |
T |
C |
exonic |
synonymous SNV |
DIP2B:NM_173602:exon37:c.T4431C:p.I1477I |
|
12 |
51636259 |
2 |
DAZAP2 |
C |
T |
exonic |
synonymous SNV |
DAZAP2:NM_001136266:exon4:c.C447T:p.L149L |
|
12 |
53294381 |
1 |
KRT8 |
T |
C |
exonic |
synonymous SNV |
KRT8:NM_002273:exon4:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L |
|
12 |
53433089 |
2 |
EIF4B |
C |
A |
exonic |
synonymous SNV |
EIF4B:NM_001330654:exon12:c.C1527A:p.G509G,EIF4B:NM_001300821:exon13:c.C1659A:p.G553G,EIF4B:NM_001417:exon13:c.C1644A:p.G548G |
|
12 |
53452874 |
1 |
TNS2 |
T |
C |
exonic |
synonymous SNV |
TNS2:NM_015319:exon18:c.T1479C:p.Y493Y,TNS2:NM_170754:exon18:c.T1449C:p.Y483Y,TNS2:NM_198316:exon18:c.T1077C:p.Y359Y |
|
12 |
53647373 |
2 |
MFSD5 |
T |
C |
exonic |
synonymous SNV |
MFSD5:NM_001170790:exon2:c.T1075C:p.L359L,MFSD5:NM_032889:exon2:c.T754C:p.L252L |
RS10876422 |
Total cholesterol:Height:Gene
expression of ESPL1 in normal prepouch ileum:Adiponectin levels |
|
12 |
53670545 |
2 |
ESPL1 |
C |
A |
exonic |
nonsynonymous SNV |
ESPL1:NM_012291:exon8:c.C1842A:p.S614R |
RS1318648 |
Methylation levels at
chr12:51947966-51948016 [hg18 coord, probe cg13445358] in
Cerebellum:Height:Gene expression of ESPL1 in normal prepouch ileum:Lumbar
spine bone mineral density (BMD):Femoral neck bone mineral density (BMD) |
|
12 |
53681883 |
2 |
ESPL1 |
A |
T |
exonic |
nonsynonymous SNV |
ESPL1:NM_012291:exon19:c.A4304T:p.K1435M |
|
12 |
53686703 |
2 |
ESPL1 |
G |
A |
exonic |
nonsynonymous SNV |
ESPL1:NM_012291:exon30:c.G6110A:p.R2037H |
|
12 |
53693532 |
2 |
C12orf10 |
A |
G |
exonic |
nonsynonymous SNV |
C12orf10:NM_021640:exon1:c.A11G:p.Q4R |
|
12 |
53693533 |
2 |
C12orf10 |
A |
C |
exonic |
nonsynonymous SNV |
C12orf10:NM_021640:exon1:c.A12C:p.Q4H |
|
12 |
53700848 |
2 |
C12orf10 |
C |
T |
exonic |
nonsynonymous SNV |
C12orf10:NM_021640:exon7:c.C1046T:p.T349I |
|
12 |
53700860 |
2 |
C12orf10 |
A |
G |
exonic |
nonsynonymous SNV |
C12orf10:NM_021640:exon7:c.A1058G:p.H353R |
|
12 |
53703021 |
2 |
AAAS |
G |
A |
exonic |
synonymous SNV |
AAAS:NM_001173466:exon8:c.C756T:p.F252F,AAAS:NM_015665:exon9:c.C855T:p.F285F |
|
12 |
54109659 |
2 |
CALCOCO1 |
C |
T |
exonic |
nonsynonymous SNV |
CALCOCO1:NM_001143682:exon8:c.G923A:p.R308K,CALCOCO1:NM_020898:exon9:c.G1178A:p.R393K |
RS3741659 |
Eye color:Barnes Akathisia Rating
Scale:Comorbid depressive syndrome and alcohol dependence |
|
12 |
54109733 |
2 |
CALCOCO1 |
A |
G |
exonic |
synonymous SNV |
CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S |
RS3741658 |
Total cholesterol:Urinary
albumin-to-creatinine ratio |
|
12 |
56295734 |
2 |
PYM1 |
A |
G |
exonic |
synonymous SNV |
PYM1:NM_001143853:exon3:c.T534C:p.P178P,PYM1:NM_032345:exon3:c.T537C:p.P179P |
|
12 |
56398454 |
2 |
SUOX |
G |
C |
exonic |
synonymous SNV |
SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S |
RS773115 |
Gene expression of LOC644191 [probe
217753_s_at] in lymphoblastoid cell lines:Gene expression of LOC728937 [probe
217753_s_at] in lymphoblastoid cell lines:Gene expression of RPS26 [probe
217753_s_at] in lymphoblastoid cell lines:Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Rheumatoid arthritis:Acute lung injury following major trauma |
|
12 |
56647911 |
2 |
ANKRD52 |
G |
C |
exonic |
synonymous SNV |
ANKRD52:NM_173595:exon8:c.C846G:p.S282S |
RS808919 |
Coronary artery disease
(CAD):Abnormal Involuntary Movement Scale:HOMA-B:Gene expression of RPS26L1
in peripheral blood monocytes:Gene expression of RPS26L in peripheral blood
monocytes:Gene expression of STAT2 in peripheral blood monocytes:Gene
expression of SPRYD4 in peripheral blood monocytes:Gene expression of RPS26
in peripheral blood monocytes:Gene expression of CCDC4 in peripheral blood
monocytes:Height:Advanced age-related macular degeneration:Transmission
distortion:Maternal transmission distortion:Advanced age-related macular
degeneration (geographic atrophy) |
|
12 |
56649601 |
2 |
ANKRD52 |
A |
G |
exonic |
synonymous SNV |
ANKRD52:NM_173595:exon5:c.T429C:p.A143A |
RS1274490 |
Myopia |
|
12 |
56722060 |
2 |
PAN2 |
T |
G |
exonic |
nonsynonymous SNV |
PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L |
|
12 |
56737251 |
1 |
STAT2 |
C |
A |
exonic |
nonsynonymous SNV |
STAT2:NM_005419:exon24:c.G2478T:p.Q826H,STAT2:NM_198332:exon24:c.G2466T:p.Q822H |
|
12 |
56815922 |
2 |
TIMELESS |
C |
T |
exonic |
nonsynonymous SNV |
TIMELESS:NM_001330295:exon20:c.G2489A:p.R830Q,TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q |
RS774047 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Childhood acute lymphoblastic
leukemia:Total cholesterol change with statins:Gene expression of RBMS2 in
peripheral blood monocytes:College completion:Years of education:Amyotrophic
lateral sclerosis (ALS) age of onset:Advanced age-related macular
degeneration (geographic atrophy) |
|
12 |
56822378 |
2 |
TIMELESS |
T |
A |
exonic |
nonsynonymous SNV |
TIMELESS:NM_001330295:exon12:c.A1360T:p.I454L,TIMELESS:NM_003920:exon12:c.A1363T:p.I455L |
RS774027 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with
statins:Years of education:Advanced age-related macular degeneration
(geographic atrophy) |
|
12 |
56825311 |
2 |
TIMELESS |
C |
T |
exonic |
synonymous SNV |
TIMELESS:NM_001330295:exon8:c.G762A:p.V254V,TIMELESS:NM_003920:exon8:c.G765A:p.V255V |
RS774033 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with
statins:Gene expression of RBMS2 in peripheral blood monocytes:Advanced
age-related macular degeneration (geographic atrophy):Amyotrophic lateral
sclerosis (ALS) age of onset:Years of education |
|
12 |
56862886 |
2 |
SPRYD4 |
T |
C |
exonic |
nonsynonymous SNV |
SPRYD4:NM_207344:exon2:c.T149C:p.M50T |
|
12 |
57106660 |
1 |
NACA |
A |
T |
exonic |
synonymous SNV |
NACA:NM_001113201:exon7:c.T543A:p.I181I,NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001320193:exon7:c.T543A:p.I181I,NACA:NM_001320194:exon7:c.T543A:p.I181I,NACA:NM_005594:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I |
|
12 |
57108203 |
1 |
NACA |
A |
G |
exonic |
synonymous SNV |
NACA:NM_001113201:exon4:c.T177C:p.I59I,NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001320193:exon4:c.T177C:p.I59I,NACA:NM_001320194:exon4:c.T177C:p.I59I,NACA:NM_005594:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I |
|
12 |
57127957 |
1 |
PRIM1 |
C |
T |
exonic |
nonsynonymous SNV |
PRIM1:NM_000946:exon12:c.G1217A:p.R406Q |
|
12 |
57585144 |
2 |
LRP1 |
C |
T |
exonic |
synonymous SNV |
LRP1:NM_002332:exon44:c.C7278T:p.A2426A |
RS1800139 |
Age at menarche:Birth weight |
|
12 |
57590869 |
2 |
LRP1 |
T |
C |
exonic |
synonymous SNV |
LRP1:NM_002332:exon56:c.T8997C:p.T2999T |
|
12 |
57593101 |
2 |
LRP1 |
G |
A |
exonic |
synonymous SNV |
LRP1:NM_002332:exon61:c.G9783A:p.T3261T |
|
12 |
57649840 |
1 |
R3HDM2 |
C |
T |
exonic |
synonymous SNV |
R3HDM2:NM_001351217:exon21:c.G2469A:p.K823K,R3HDM2:NM_001351213:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351214:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351215:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351216:exon22:c.G2559A:p.K853K,R3HDM2:NM_001351218:exon22:c.G2469A:p.K823K,R3HDM2:NM_001330122:exon23:c.G2625A:p.K875K,R3HDM2:NM_001330123:exon23:c.G2493A:p.K831K,R3HDM2:NM_001351208:exon23:c.G2667A:p.K889K,R3HDM2:NM_001351209:exon23:c.G2619A:p.K873K,R3HDM2:NM_001351212:exon23:c.G2571A:p.K857K,R3HDM2:NM_014925:exon23:c.G2523A:p.K841K,R3HDM2:NM_001330121:exon24:c.G2625A:p.K875K,R3HDM2:NM_001351205:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351206:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351211:exon24:c.G2589A:p.K863K,R3HDM2:NM_001351204:exon25:c.G2721A:p.K907K,R3HDM2:NM_001351207:exon26:c.G2691A:p.K897K |
RS4075325 |
2 hour glucose:Fasting blood
glucose:Serum creatinine:Methylation levels at chr12:55931375-55931425 [hg18
coord, probe cg14747072] in Frontal cortex:Methylation levels at
chr12:55921029-55921079 [hg18 coord, probe cg21878918] in Temporal
cortex:Methylation levels at chr12:55921029-55921079 [hg18 coord, probe
cg21878918] in Caudal pons:Methylation levels at chr12:55921029-55921079
[hg18 coord, probe cg21878918] in Frontal cortex:Methylation levels at
chr12:55931375-55931425 [hg18 coord, probe cg14747072] in Temporal
cortex:Methylation levels at chr12:55931375-55931425 [hg18 coord, probe
cg14747072] in Caudal pons:Triglycerides:Total cholesterol:LDL
cholesterol:Microalbuminuria:Comorbid depressive syndrome and alcohol
dependence |
|
12 |
57994743 |
2 |
PIP4K2C |
T |
G |
exonic |
synonymous SNV |
PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L |
|
12 |
57995089 |
2 |
PIP4K2C |
T |
C |
exonic |
synonymous SNV |
PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A |
|
12 |
58010163 |
1 |
ARHGEF25 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF25:NM_001347933:exon13:c.A1427G:p.Q476R,ARHGEF25:NM_182947:exon14:c.A1517G:p.Q506R,ARHGEF25:NM_001111270:exon15:c.A1634G:p.Q545R |
RS1564374 |
Irritible bowel syndrome:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood glucose:Gene
expression of FAM119B in peripheral blood monocytes:Gene expression of TSFM
in peripheral blood monocytes:Gene expression of TSPAN31 in peripheral blood
monocytes:Gene expression of XRCC6BP1 in peripheral blood
monocytes:Height:Waist hip ratio |
|
12 |
58019472 |
2 |
SLC26A10 |
T |
G |
exonic |
nonsynonymous SNV |
SLC26A10:NM_133489:exon14:c.T1636G:p.L546V |
|
12 |
58112189 |
1 |
OS9 |
A |
G |
exonic |
synonymous SNV |
OS9:NM_001261421:exon10:c.A1299G:p.E433E,OS9:NM_001261422:exon10:c.A1239G:p.E413E,OS9:NM_001017956:exon11:c.A1395G:p.E465E,OS9:NM_001261420:exon11:c.A1398G:p.E466E,OS9:NM_006812:exon11:c.A1395G:p.E465E |
RS799265 |
Partial epilepsy:Gene expression of
OS9 in liver |
|
12 |
58126234 |
1 |
AGAP2 |
C |
A |
exonic |
synonymous SNV |
AGAP2:NM_001122772:exon7:c.G1746T:p.L582L,AGAP2:NM_014770:exon7:c.G738T:p.L246L |
|
12 |
58149446 |
2 |
9-Mar |
C |
T |
exonic |
synonymous SNV |
MARCH9:NM_138396:exon1:c.C135T:p.G45G |
|
12 |
58204283 |
2 |
AVIL |
T |
C |
exonic |
nonsynonymous SNV |
AVIL:NM_006576:exon6:c.A610G:p.K204E |
|
12 |
58345606 |
1 |
ATP23 |
T |
C |
exonic |
synonymous SNV |
ATP23:NM_001320409:exon3:c.T27C:p.L9L,ATP23:NM_001320408:exon4:c.T225C:p.L75L,ATP23:NM_033276:exon4:c.T381C:p.L127L,ATP23:NM_001320410:exon5:c.T27C:p.L9L |
RS17120203 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
12 |
58350631 |
1 |
ATP23 |
C |
T |
exonic |
synonymous SNV |
ATP23:NM_001320409:exon5:c.C345T:p.H115H,ATP23:NM_001320408:exon6:c.C543T:p.H181H,ATP23:NM_033276:exon6:c.C699T:p.H233H,ATP23:NM_001320410:exon7:c.C345T:p.H115H |
RS10122 |
Gene expression of KUB3 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of XRCC6BP1 [probe
227678_at] in lymphoblastoid cell lines:Gene expression of XRCC6BP1 in blood
cells in Celiac disease:Differential exon level expression of XRCC6BP1 [probe
3418634] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1
[probe 3418610] in peripheral blood mononuclear cells:Gene expression of
XRCC6BP1 [probe ILMN_16915] in osteoblasts:2 hour glucose:Rheumatoid
arthritis:Gene expression of XRCC6BP1 in peripheral blood monocytes:Gene
expression of FAM119B in peripheral blood monocytes:Gene expression of
XRCC6BP1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of
TSFM in blood:Gene expression of XRCC6BP1 in blood:Gene expression of
FAM119B///TSFM in blood:Diastolic blood pressure (DBP):Gene expression of
XRCC6BP1 [probeset 227678_at] in sputum:Gene expression of XRCC6BP1 in
liver:Years of education |
|
12 |
62778065 |
2 |
USP15 |
A |
G |
exonic |
synonymous SNV |
USP15:NM_001351160:exon9:c.A708G:p.P236P,USP15:NM_006313:exon10:c.A1368G:p.P456P,USP15:NM_001252078:exon11:c.A1455G:p.P485P,USP15:NM_001351163:exon11:c.A456G:p.P152P,USP15:NM_001351164:exon11:c.A456G:p.P152P,USP15:NM_001351159:exon12:c.A1092G:p.P364P,USP15:NM_001351166:exon12:c.A456G:p.P152P,USP15:NM_001351165:exon13:c.A456G:p.P152P |
RS2044846 |
College completion |
|
12 |
62926398 |
2 |
MON2 |
G |
A |
exonic |
synonymous SNV |
MON2:NM_001278469:exon12:c.G1581A:p.S527S,MON2:NM_001278470:exon12:c.G1581A:p.S527S,MON2:NM_001278471:exon12:c.G1581A:p.S527S,MON2:NM_015026:exon12:c.G1581A:p.S527S,MON2:NM_001278472:exon13:c.G1365A:p.S455S |
RS7957417 |
HOMA-B:Rheumatoid arthritis:Autism
with verbal ability:Years of education:College completion |
|
12 |
64875787 |
2 |
TBK1 |
T |
A |
exonic |
synonymous SNV |
TBK1:NM_013254:exon8:c.T978A:p.I326I |
RS7486100 |
Chronic kidney disease:Serum
creatinine:Triglycerides:Total cholesterol:Aortic valve calcium:Obesity with
early age of onset (age >2):Advanced age-related macular degeneration |
|
12 |
65824986 |
2 |
|
12 |
66546100 |
1 |
TMBIM4 |
A |
G |
exonic |
nonsynonymous SNV |
TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T,TMBIM4:NM_001282606:exon4:c.T404C:p.I135T |
RS8793 |
Gene expression of TMBIM4 [probe
219206_x_at] in lymphoblastoid cell lines:Gene expression of TMBIM4 [probe
3460593] in peripheral blood mononuclear cells:Differential exon level
expression of TMBIM4 [probe 3460596] in peripheral blood mononuclear cells:Gene
expression of TMBIM4 in CD4+ lymphocytes:Gene expression of TMBIM4 [probe
ILMN_22938] in osteoblasts treated with dexamethasone:Gene expression of
IRAK3 in blood:Gene expression of [probe 5720768 centered at chr12:64934553]
in blood:Gene expression of TMBIM4 [probeset 219206_x_at] in sputum:Sporadic
Creutzfeldt-Jakob disease:Gene expression of TMBIM4 in normal prepouch
ileum:Gene expression of TMBIM4 (probeID ILMN_1664750) in cerebellum in
Alzheimer's disease cases and controls |
|
12 |
67699536 |
1 |
CAND1 |
G |
A |
exonic |
synonymous SNV |
CAND1:NM_018448:exon10:c.G2088A:p.E696E,CAND1:NM_001329674:exon11:c.G2016A:p.E672E,CAND1:NM_001329675:exon11:c.G2016A:p.E672E,CAND1:NM_001329676:exon11:c.G1989A:p.E663E |
RS17781675 |
Stabilized warfarin dose |
|
12 |
68052178 |
1 |
DYRK2 |
G |
T |
exonic |
synonymous SNV |
DYRK2:NM_003583:exon2:c.G1272T:p.G424G,DYRK2:NM_006482:exon3:c.G1491T:p.G497G |
RS3741644 |
HDL cholesterol:Gene expression of
DYRK2 in blood:Aortic valve calcium:Transmission distortion:Infant head
circumference:College completion |
|
12 |
70195439 |
1 |
RAB3IP |
A |
G |
exonic |
synonymous SNV |
RAB3IP:NM_001024647:exon6:c.A450G:p.E150E,RAB3IP:NM_001278402:exon6:c.A450G:p.E150E,RAB3IP:NM_022456:exon8:c.A1068G:p.E356E,RAB3IP:NM_175623:exon8:c.A1116G:p.E372E,RAB3IP:NM_175624:exon8:c.A1068G:p.E356E,RAB3IP:NM_175625:exon8:c.A1116G:p.E372E |
|
12 |
71526593 |
2 |
TSPAN8 |
G |
A |
exonic |
synonymous SNV |
TSPAN8:NM_004616:exon7:c.C456T:p.C152C |
RS2270587 |
Eye color:2 hour glucose:Total
cholesterol:Coronary artery disease (CAD):Obesity with early age of onset
(age >2) |
|
12 |
71960208 |
2 |
LGR5 |
G |
A |
exonic |
synonymous SNV |
LGR5:NM_001277226:exon8:c.G810A:p.Q270Q,LGR5:NM_001277227:exon8:c.G666A:p.Q222Q,LGR5:NM_003667:exon9:c.G882A:p.Q294Q |
|
12 |
72164395 |
1 |
RAB21 |
C |
T |
exonic |
synonymous SNV |
RAB21:NM_014999:exon3:c.C243T:p.F81F |
RS3741688 |
Total cholesterol:Gene expression
of [probe 1770661 centered at chr12:70467005] in blood:Variant
Creutzfeldt-Jakob disease |
|
12 |
74932159 |
2 |
ATXN7L3B |
G |
C |
exonic |
synonymous SNV |
ATXN7L3B:NM_001136262:exon1:c.G267C:p.L89L |
RS590352 |
Triglycerides:HDL cholesterol:LDL
cholesterol:Total cholesterol |
|
12 |
75900588 |
1 |
KRR1 |
A |
G |
exonic |
synonymous SNV |
KRR1:NM_007043:exon3:c.T367C:p.L123L |
RS2070162 |
Gene expression of GLIPR1 [probe
214085_x_at] in lymphoblastoid cell lines:Gene expression of GLIPR1 [probe
204221_x_at] in lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol |
|
12 |
76449900 |
1 |
NAP1L1 |
T |
C |
exonic |
synonymous SNV |
NAP1L1:NM_001330232:exon5:c.A282G:p.K94K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K |
|
12 |
76453966 |
1 |
NAP1L1 |
G |
A |
exonic |
synonymous SNV |
NAP1L1:NM_001330232:exon3:c.C111T:p.H37H,NAP1L1:NM_001307924:exon5:c.C300T:p.H100H,NAP1L1:NM_001330231:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H |
|
12 |
80014907 |
2 |
PAWR |
A |
T |
exonic |
synonymous SNV |
PAWR:NM_002583:exon3:c.T597A:p.I199I |
RS2307223 |
Total cholesterol:HDL cholesterol
change with statins:LDL cholesterol:Chronic kidney disease:Birth weight |
|
12 |
82783668 |
2 |
METTL25 |
C |
T |
exonic |
synonymous SNV |
METTL25:NM_001319675:exon3:c.C237T:p.I79I,METTL25:NM_032230:exon3:c.C498T:p.I166I,METTL25:NM_001347934:exon4:c.C342T:p.I114I |
RS10778908 |
HDL cholesterol change with statins |
|
12 |
88440676 |
2 |
C12orf29 |
G |
C |
exonic |
nonsynonymous SNV |
C12orf29:NM_001009894:exon6:c.G712C:p.V238L |
RS9262 |
Gene expression of FLJ13615 in
CHB-JPT lymphoblastoid cell lines:LDL cholesterol |
|
12 |
89743223 |
2 |
DUSP6 |
G |
A |
exonic |
synonymous SNV |
DUSP6:NM_022652:exon2:c.C516T:p.D172D,DUSP6:NM_001946:exon3:c.C954T:p.D318D |
|
12 |
89744773 |
1 |
DUSP6 |
A |
C |
exonic |
nonsynonymous SNV |
DUSP6:NM_001946:exon2:c.T430G:p.S144A |
RS770087 |
Longstanding arthritis:Maternal
transmission distortion:College completion:Obesity with early age of onset
(age >2) |
|
12 |
89745477 |
1 |
DUSP6 |
C |
A |
exonic |
nonsynonymous SNV |
DUSP6:NM_001946:exon1:c.G340T:p.V114L,DUSP6:NM_022652:exon1:c.G340T:p.V114L |
RS2279574 |
HDL cholesterol:Obesity with early
age of onset (age >2):Gene expression of DUSP6 (ENSG00000139318) in
dendritic cells treated with Mycobacterium tuberculosis:Refractive error |
|
12 |
89917518 |
1 |
GALNT4;POC1B-GALNT4 |
A |
G |
exonic |
nonsynonymous SNV |
GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T |
RS2230281 |
Triglycerides:Cystatin C in
serum:LDL cholesterol:Total cholesterol:Height:Coronary artery disease
(CAD):Adiponectin levels |
|
12 |
93196422 |
2 |
EEA1 |
T |
G |
exonic |
nonsynonymous SNV |
EEA1:NM_003566:exon19:c.A2428C:p.K810Q |
RS10745623 |
Height:Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
12 |
94769758 |
2 |
CEP83 |
A |
G |
exonic |
synonymous SNV |
CEP83:NM_001042399:exon7:c.T837C:p.R279R,CEP83:NM_001346457:exon7:c.T837C:p.R279R,CEP83:NM_001346459:exon7:c.T525C:p.R175R,CEP83:NM_001346461:exon7:c.T837C:p.R279R,CEP83:NM_001346462:exon7:c.T525C:p.R175R,CEP83:NM_001346458:exon8:c.T525C:p.R175R,CEP83:NM_001346460:exon8:c.T837C:p.R279R,CEP83:NM_016122:exon8:c.T837C:p.R279R |
RS4761611 |
Eye color:Premature ovarian
failure:LDL cholesterol:Adiponectin levels |
|
12 |
95681554 |
1 |
VEZT |
C |
T |
exonic |
synonymous SNV |
VEZT:NM_017599:exon9:c.C1443T:p.H481H |
|
12 |
95694394 |
2 |
VEZT |
G |
A |
exonic |
nonsynonymous SNV |
VEZT:NM_017599:exon12:c.G2285A:p.G762D |
RS14121 |
Gene expression of VEZT [probe
ILMN_22823] in osteoblasts:LDL cholesterol:Total cholesterol:Gene expression
of VEZT in CD4+ lymphocytes:Gene expression of VEZT in blood:Gene expression
of VEZT (ENSG00000028203) in dendritic cells treated with Mycobacterium
tuberculosis:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Gene
expression of VEZT (ENSG00000028203) in dendritic cells |
|
12 |
95906603 |
1 |
METAP2 |
C |
A |
exonic |
synonymous SNV |
METAP2:NM_001317183:exon9:c.C1026A:p.T342T,METAP2:NM_001317182:exon10:c.C1026A:p.T342T,METAP2:NM_001330246:exon10:c.C1092A:p.T364T,METAP2:NM_006838:exon10:c.C1095A:p.T365T |
RS3794261 |
Irritible bowel
syndrome:Age-related hearing impairment:Cystatin C in serum:Nicotine
dependence (smoking):Microalbuminuria:PROP taste detection threshold:Advanced
age-related macular degeneration (geographic atrophy) |
|
12 |
96077312 |
1 |
NTN4 |
C |
T |
exonic |
synonymous SNV |
NTN4:NM_001329700:exon6:c.G1356A:p.A452A,NTN4:NM_001329701:exon6:c.G1245A:p.A415A,NTN4:NM_001329702:exon6:c.G1245A:p.A415A,NTN4:NM_021229:exon6:c.G1356A:p.A452A |
|
12 |
96337225 |
1 |
AMDHD1 |
C |
T |
exonic |
synonymous SNV |
AMDHD1:NM_152435:exon1:c.C49T:p.L17L |
RS1436121 |
Cystatin C in serum:Methylation
levels at chr12:94862169-94862219 [hg18 coord, probe cg07236190] in Caudal
pons:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe
cg25229172] in Caudal pons:Methylation levels at chr12:94862169-94862219 [hg18
coord, probe cg07236190] in Temporal cortex:Methylation levels at
chr12:94860202-94860252 [hg18 coord, probe cg25229172] in
Cerebellum:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe
cg25229172] in Temporal cortex:Methylation levels at chr12:94860202-94860252
[hg18 coord, probe cg25229172] in Frontal cortex:Triglycerides:Gene
expression of AMDHD1 (probeID ILMN_1788239) in cerebellum in Alzheimer's
disease cases and controls:Mitral annular calcium:Gene expression of AMDHD1
(probeID ILMN_1788239) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of AMDHD1 in normal prepouch ileum |
|
12 |
96676330 |
1 |
CDK17 |
C |
A |
exonic |
synonymous SNV |
CDK17:NM_001170464:exon15:c.G1413T:p.V471V,CDK17:NM_002595:exon15:c.G1413T:p.V471V |
|
12 |
99007623 |
1 |
IKBIP |
C |
T |
exonic |
nonsynonymous SNV |
IKBIP:NM_201612:exon3:c.G793A:p.G265S |
RS1048906 |
Gene expression of [probe 3170605
centered at chr12:97542310] in blood:Gene expression of SLC25A3///SNORA53 in
blood |
|
12 |
100706368 |
1 |
SCYL2 |
G |
A |
exonic |
synonymous SNV |
SCYL2:NM_001317784:exon6:c.G789A:p.G263G,SCYL2:NM_001330253:exon6:c.G789A:p.G263G,SCYL2:NM_001330254:exon6:c.G789A:p.G263G,SCYL2:NM_017988:exon6:c.G789A:p.G263G,SCYL2:NM_001330256:exon7:c.G270A:p.G90G |
|
12 |
100709420 |
1 |
SCYL2 |
C |
T |
exonic |
synonymous SNV |
SCYL2:NM_001317784:exon9:c.C1180T:p.L394L,SCYL2:NM_001330253:exon9:c.C1180T:p.L394L,SCYL2:NM_001330254:exon9:c.C1180T:p.L394L,SCYL2:NM_017988:exon9:c.C1180T:p.L394L,SCYL2:NM_001330256:exon10:c.C661T:p.L221L |
RS10860577 |
HDL cholesterol:Obesity with early
age of onset (age >2) |
|
12 |
101017445 |
2 |
GAS2L3 |
T |
C |
exonic |
synonymous SNV |
GAS2L3:NM_001303130:exon9:c.T862C:p.L288L,GAS2L3:NM_001303131:exon10:c.T550C:p.L184L,GAS2L3:NM_174942:exon10:c.T862C:p.L288L |
|
12 |
101732655 |
1 |
UTP20 |
C |
T |
exonic |
synonymous SNV |
UTP20:NM_014503:exon31:c.C3933T:p.S1311S |
|
12 |
101750814 |
2 |
UTP20 |
T |
A |
exonic |
nonsynonymous SNV |
UTP20:NM_014503:exon43:c.T5645A:p.L1882Q |
RS10082778 |
Total cholesterol:Parkinson's
disease |
|
12 |
102117589 |
1 |
CHPT1 |
C |
T |
exonic |
synonymous SNV |
CHPT1:NM_020244:exon7:c.C1029T:p.N343N |
RS11082 |
LDL
cholesterol:Triglycerides:Fasting blood glucose |
|
12 |
102158763 |
1 |
GNPTAB |
T |
C |
exonic |
synonymous SNV |
GNPTAB:NM_024312:exon13:c.A1932G:p.T644T |
RS10778148 |
Gene expression of CHPT1 [probe
230364_at] in lymphoblastoid cell lines:Gene expression of CHPT1 [probe
221675_s_at] in lymphoblastoid cell lines |
|
12 |
103237468 |
1 |
PAH |
G |
C |
exonic |
synonymous SNV |
PAH:NM_000277:exon11:c.C1155G:p.L385L |
RS772897 |
Lp-PLA2 activity:Rheumatoid
arthritis:Total cholesterol:LDL cholesterol:Height:Adiponectin levels |
|
12 |
103248924 |
1 |
PAH |
C |
T |
exonic |
synonymous SNV |
PAH:NM_000277:exon6:c.G696A:p.Q232Q |
RS1126758 |
Triglycerides:Total
cholesterol:Adiponectin levels |
|
12 |
104327979 |
1 |
HSP90B1 |
C |
T |
exonic |
synonymous SNV |
HSP90B1:NM_003299:exon5:c.C657T:p.T219T |
|
12 |
105520069 |
1 |
WASHC4 |
G |
T |
exonic |
nonsynonymous SNV |
WASHC4:NM_001293640:exon12:c.G967T:p.V323L,WASHC4:NM_015275:exon12:c.G967T:p.V323L |
|
12 |
105546172 |
2 |
WASHC4 |
G |
A |
exonic |
nonsynonymous SNV |
WASHC4:NM_001293640:exon26:c.G2704A:p.V902I,WASHC4:NM_015275:exon26:c.G2701A:p.V901I |
RS1663564 |
Triglycerides change with
statins:LDL cholesterol:Gene expression of DIP13B in CD4+ lymphocytes:Body
mass index (BMI):Gene expression of [probe 5810743 centered at
chr12:104288777] in blood:Gene expression of APPL2 in blood:College
completion |
|
12 |
105568122 |
2 |
APPL2 |
G |
A |
exonic |
synonymous SNV |
APPL2:NM_001251904:exon21:c.C1983T:p.N661N,APPL2:NM_001251905:exon21:c.C1836T:p.N612N,APPL2:NM_018171:exon21:c.C1965T:p.N655N |
RS935241 |
Fasting blood glucose:Total
cholesterol change with statins |
|
12 |
105568176 |
2 |
APPL2 |
G |
A |
exonic |
synonymous SNV |
APPL2:NM_001251904:exon21:c.C1929T:p.D643D,APPL2:NM_001251905:exon21:c.C1782T:p.D594D,APPL2:NM_018171:exon21:c.C1911T:p.D637D |
RS935240 |
Fasting blood glucose:Total
cholesterol change with statins |
|
12 |
105600935 |
1 |
APPL2 |
G |
A |
exonic |
synonymous SNV |
APPL2:NM_001251904:exon8:c.C543T:p.H181H,APPL2:NM_001251905:exon8:c.C396T:p.H132H,APPL2:NM_018171:exon8:c.C525T:p.H175H |
RS2293643 |
Abnormal Involuntary Movement
Scale:Serum creatinine:Waist hip ratio |
|
12 |
106704974 |
1 |
TCP11L2 |
G |
A |
exonic |
nonsynonymous SNV |
TCP11L2:NM_001286262:exon2:c.G121A:p.A41T,TCP11L2:NM_152772:exon2:c.G121A:p.A41T |
RS4964460 |
Height:Gene expression of POLR3B in
blood |
|
12 |
106903321 |
1 |
POLR3B |
T |
C |
exonic |
synonymous SNV |
POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N |
RS13561 |
Gene expression of POLR3B in
liver:Simpson-Angus Scale:Height:Adiponectin levels |
|
12 |
107372251 |
1 |
MTERF2 |
G |
C |
exonic |
nonsynonymous SNV |
MTERF2:NM_001033050:exon3:c.C242G:p.A81G,MTERF2:NM_025198:exon3:c.C242G:p.A81G |
|
12 |
107372453 |
1 |
MTERF2 |
G |
C |
exonic |
nonsynonymous SNV |
MTERF2:NM_001033050:exon3:c.C40G:p.L14V,MTERF2:NM_025198:exon3:c.C40G:p.L14V |
|
12 |
107395106 |
2 |
CRY1 |
A |
G |
exonic |
synonymous SNV |
CRY1:NM_004075:exon5:c.T636C:p.G212G |
RS8192440 |
2 hour
glucose:Triglycerides:Systolic blood pressure (SBP):Maternal transmission
distortion:Hypertension (early onset hypertension):Transmission distortion |
|
12 |
108096769 |
1 |
PWP1 |
G |
C |
exonic |
nonsynonymous SNV |
PWP1:NM_001317962:exon9:c.G678C:p.L226F,PWP1:NM_001317963:exon9:c.G228C:p.L76F,PWP1:NM_007062:exon9:c.G864C:p.L288F |
RS11547907 |
Triglycerides:HDL cholesterol:HDL
cholesterol:Birth weight:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
12 |
108918146 |
2 |
SART3 |
C |
T |
exonic |
synonymous SNV |
SART3:NM_014706:exon18:c.G2661A:p.P887P |
RS2303633 |
Height:Gene expression of ISCU
[probeset 209075_s_at] in sputum:Maternal transmission distortion |
|
12 |
108923950 |
2 |
SART3 |
A |
G |
exonic |
synonymous SNV |
SART3:NM_014706:exon15:c.T1884C:p.D628D |
|
12 |
108941679 |
1 |
SART3 |
G |
A |
exonic |
synonymous SNV |
SART3:NM_014706:exon3:c.C528T:p.A176A |
RS12579216 |
Neuroticism:2 hour glucose:Bipolar
disorder in alcoholics:Obesity with early age of onset (age >2) |
|
12 |
108954823 |
2 |
SART3 |
C |
T |
exonic |
synonymous SNV |
SART3:NM_014706:exon1:c.G108A:p.R36R |
|
12 |
108954862 |
1 |
SART3 |
G |
C |
exonic |
nonsynonymous SNV |
SART3:NM_014706:exon1:c.C69G:p.D23E |
RS2072579 |
HDL cholesterol:Waist hip
ratio:Parkinson's disease |
|
12 |
108956417 |
2 |
ISCU |
T |
G |
exonic |
nonsynonymous SNV |
ISCU:NM_001301140:exon1:c.T19G:p.F7V,ISCU:NM_001301141:exon1:c.T19G:p.F7V,ISCU:NM_001320042:exon1:c.T19G:p.F7V,ISCU:NM_213595:exon1:c.T19G:p.F7V |
|
12 |
108956418 |
2 |
ISCU |
T |
G |
exonic |
nonsynonymous SNV |
ISCU:NM_001301140:exon1:c.T20G:p.F7C,ISCU:NM_001301141:exon1:c.T20G:p.F7C,ISCU:NM_001320042:exon1:c.T20G:p.F7C,ISCU:NM_213595:exon1:c.T20G:p.F7C |
|
12 |
109644616 |
1 |
ACACB |
C |
T |
exonic |
synonymous SNV |
ACACB:NM_001093:exon19:c.C3015T:p.N1005N |
|
12 |
109675029 |
2 |
ACACB |
T |
C |
exonic |
synonymous SNV |
ACACB:NM_001093:exon33:c.T4506C:p.L1502L |
RS2241220 |
Neuroticism:Abnormal Involuntary
Movement Scale:Cervical cancer:Gene expression of ACACB in blood:PROP taste
detection threshold |
|
12 |
109696838 |
2 |
ACACB |
G |
A |
exonic |
nonsynonymous SNV |
ACACB:NM_001093:exon46:c.G6421A:p.V2141I |
RS2075260 |
LDL cholesterol:Cystatin C in
serum:Triglycerides:Bipolar disorder:Obesity with early age of onset (age
>2) |
|
12 |
109937534 |
1 |
UBE3B |
G |
A |
exonic |
nonsynonymous SNV |
UBE3B:NM_130466:exon12:c.G1037A:p.R346Q,UBE3B:NM_183415:exon12:c.G1037A:p.R346Q |
RS7298565 |
Gene expression of MMAB in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MMAB in
liver:Irritible bowel syndrome:HDL cholesterol:Gene expression of KCTD10 in
blood cells in Celiac disease:Differential exon level expression of UBE3B
[probe 3431172] in peripheral blood mononuclear cells:Differential exon level
expression of UBE3B [probe 3431172] in brain cortex:Fasting blood
glucose:Gene expression of KCTD10 in Cerebellum:Gene expression of KCTD10 in
peripheral blood monocytes:Total cholesterol:HDL cholesterol:Gene expression
of KCTD10 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Alzheimer's
disease (APOE3 homozygotes):Gene expression of KCTD10 in blood:Gene
expression of MMAB in blood:Systolic blood pressure (SBP):Gene expression of
MMAB in liver:Transmission distortion:Total cholesterol:Gene expression of
MMAB (probeID ILMN_1689156) in cerebellum in Alzheimer's disease cases and
controls:Breast cancer:Coronary artery disease (CAD):Gene expression of
KCTD10 (probeID ILMN_1719064) in whole blood:Maternal transmission
distortion:Gene expression of MMAB (probeID ILMN_1689156) in temporal cortex
in Alzheimer's disease cases and controls |
|
12 |
109968427 |
1 |
UBE3B |
C |
T |
exonic |
synonymous SNV |
UBE3B:NM_130466:exon26:c.C2886T:p.S962S,UBE3B:NM_183415:exon26:c.C2886T:p.S962S |
|
12 |
109994870 |
1 |
MMAB |
A |
T |
exonic |
nonsynonymous SNV |
MMAB:NM_052845:exon9:c.T716A:p.M239K |
RS9593 |
Irritible bowel syndrome:HDL
cholesterol:Gene expression of MMAB probe [GI_41053624-S] in brain cortex
with no Alzheimer's interaction:Fasting blood glucose:Gene expression of
KCTD10 in Cerebellum:HDL cholesterol:Total cholesterol:Systolic blood
pressure (SBP):Coronary artery disease (CAD):Breast cancer:Breast cancer
(Estrogen receptor negative breast cancer):Gene expression of MMAB (probeID
ILMN_1689156) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of KCTD10 (probeID ILMN_1719064) in whole blood:Gene expression of
MMAB (probeID ILMN_1689156) in temporal cortex in Alzheimer's disease cases
and controls |
|
12 |
110011229 |
1 |
MMAB |
G |
T |
exonic |
synonymous SNV |
MMAB:NM_052845:exon1:c.C57A:p.R19R |
|
12 |
110011230 |
1 |
MMAB |
C |
T |
exonic |
nonsynonymous SNV |
MMAB:NM_052845:exon1:c.G56A:p.R19H |
|
12 |
110238481 |
2 |
TRPV4 |
G |
A |
exonic |
synonymous SNV |
TRPV4:NM_147204:exon4:c.C795T:p.H265H,TRPV4:NM_001177431:exon5:c.C693T:p.H231H,TRPV4:NM_021625:exon5:c.C795T:p.H265H |
|
12 |
110240838 |
2 |
TRPV4 |
T |
G |
exonic |
synonymous SNV |
TRPV4:NM_001177428:exon3:c.A670C:p.R224R,TRPV4:NM_001177433:exon3:c.A670C:p.R224R,TRPV4:NM_147204:exon3:c.A670C:p.R224R,TRPV4:NM_001177431:exon4:c.A568C:p.R190R,TRPV4:NM_021625:exon4:c.A670C:p.R224R |
RS3825394 |
Rheumatoid
arthritis:Triglycerides:Bipolar disorder |
|
12 |
110780107 |
1 |
ATP2A2 |
G |
A |
exonic |
synonymous SNV |
ATP2A2:NM_001681:exon15:c.G2172A:p.A724A,ATP2A2:NM_170665:exon15:c.G2172A:p.A724A |
|
12 |
112191641 |
1 |
ACAD10 |
G |
A |
exonic |
synonymous SNV |
ACAD10:NM_025247:exon19:c.G2883A:p.A961A,ACAD10:NM_001136538:exon20:c.G2976A:p.A992A |
|
12 |
112460147 |
1 |
ERP29 |
T |
G |
exonic |
synonymous SNV |
ERP29:NM_006817:exon3:c.T477G:p.P159P |
|
12 |
112477055 |
1 |
NAA25 |
T |
C |
exonic |
nonsynonymous SNV |
NAA25:NM_024953:exon22:c.A2627G:p.K876R |
|
12 |
113357237 |
2 |
OAS1 |
G |
C |
exonic |
nonsynonymous SNV |
OAS1:NM_016816:exon6:c.G1082C:p.R361T |
RS1051042 |
Gene expression of OAS1 in CHB
lymphoblastoid cell lines:Gene expression of OAS2 [probe 228607_at] in
lymphoblastoid cell lines:Gene expression of OAS1 [probe 202869_at] in
lymphoblastoid cell lines:Lp-PLA2 activity:Gene expression of OAS1 (probeID
ILMN_1658247) in temporal cortex in Alzheimer's disease cases and
controls:College completion:Gene expression of OAS1 (probeID ILMN_1658247) in
cerebellum in Alzheimer's disease cases and controls |
|
12 |
113357442 |
2 |
OAS1 |
G |
A |
exonic |
nonsynonymous SNV |
OAS1:NM_001032409:exon6:c.G1189A:p.G397R |
RS2660 |
Type 1 diabetes, gender
differentiated:Gene expression of OAS1 in CHB lymphoblastoid cell lines:Gene
expression of OAS2 [probe 228607_at] in lymphoblastoid cell lines:Gene
expression of OAS1 [probe 202869_at] in lymphoblastoid cell lines:Lp-PLA2
activity:Gene expression of OAS3 in peripheral blood monocytes:Gene
expression of OAS1 (probeID ILMN_1658247) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of OAS1 (probeID ILMN_1658247) in
whole blood:College completion:Gene expression of OAS1 (probeID ILMN_1658247)
in temporal cortex in Alzheimer's disease cases and controls |
|
12 |
113386779 |
2 |
OAS3 |
C |
G |
exonic |
nonsynonymous SNV |
OAS3:NM_006187:exon6:c.C1143G:p.S381R |
RS2285933 |
Gene expression of OAS2 [probe
228607_at] in lymphoblastoid cell lines:Gene expression of OAS1 [probe
202869_at] in lymphoblastoid cell lines:HOMA-IR:Fasting blood
glucose:Pancreatic cancer:Gene expression of OAS1 (probeID ILMN_1658247) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
OAS1 (probeID ILMN_1658247) in cerebellum in Alzheimer's disease cases and
controls |
|
12 |
114261053 |
1 |
RBM19 |
G |
A |
exonic |
synonymous SNV |
RBM19:NM_001146698:exon24:c.C2859T:p.S953S,RBM19:NM_001146699:exon24:c.C2859T:p.S953S,RBM19:NM_016196:exon24:c.C2859T:p.S953S |
RS11066773 |
Triglycerides:Urinary
albumin-to-creatinine ratio |
|
12 |
114377885 |
1 |
RBM19 |
G |
C |
exonic |
synonymous SNV |
RBM19:NM_001146698:exon15:c.C1818G:p.T606T,RBM19:NM_001146699:exon15:c.C1818G:p.T606T,RBM19:NM_016196:exon15:c.C1818G:p.T606T |
|
12 |
114377899 |
2 |
RBM19 |
G |
C |
exonic |
nonsynonymous SNV |
RBM19:NM_001146698:exon15:c.C1804G:p.Q602E,RBM19:NM_001146699:exon15:c.C1804G:p.Q602E,RBM19:NM_016196:exon15:c.C1804G:p.Q602E |
|
12 |
116408538 |
1 |
MED13L |
A |
G |
exonic |
synonymous SNV |
MED13L:NM_015335:exon27:c.T5928C:p.T1976T |
RS2304460 |
Total cholesterol:HDL
cholesterol:Height |
|
12 |
117349014 |
2 |
FBXW8 |
C |
G |
exonic |
nonsynonymous SNV |
FBXW8:NM_153348:exon1:c.C172G:p.R58G |
|
12 |
117465857 |
2 |
FBXW8 |
T |
C |
exonic |
synonymous SNV |
FBXW8:NM_012174:exon11:c.T1479C:p.Y493Y,FBXW8:NM_153348:exon11:c.T1677C:p.Y559Y |
RS4529958 |
Asthma:Infant head
circumference:Obesity with early age of onset (age >2):Hypertension (early
onset hypertension) |
|
12 |
118108785 |
2 |
|
12 |
118473054 |
2 |
WSB2 |
T |
C |
exonic |
synonymous SNV |
WSB2:NM_001278558:exon5:c.A279G:p.P93P,WSB2:NM_001278557:exon7:c.A960G:p.P320P,WSB2:NM_018639:exon7:c.A909G:p.P303P |
RS9788041 |
Type 1 diabetes, Rheumatoid
arthritis, Crohn's disease, combined case analysis:Total cholesterol:PROP
taste detection threshold |
|
12 |
118520170 |
2 |
VSIG10 |
G |
A |
exonic |
synonymous SNV |
VSIG10:NM_019086:exon3:c.C426T:p.Y142Y |
RS7488309 |
Type 2 diabetes:Response to Lithium
Treatment for Bipolar disorder:Methylation levels at
chr12:119503795-119503845 [hg18 coord, probe cg25515063] in Temporal
cortex:Aortic valve calcium:Birth weight |
|
12 |
120575549 |
2 |
GCN1 |
A |
C |
exonic |
nonsynonymous SNV |
GCN1:NM_006836:exon49:c.T6463G:p.Y2155D |
|
12 |
120589064 |
1 |
GCN1 |
G |
C |
exonic |
synonymous SNV |
GCN1:NM_006836:exon34:c.C4194G:p.A1398A |
|
12 |
120589160 |
2 |
GCN1 |
A |
G |
exonic |
synonymous SNV |
GCN1:NM_006836:exon34:c.T4098C:p.L1366L |
RS2286046 |
Height:Body mass index
(BMI):Diastolic blood pressure (DBP) |
|
12 |
120591143 |
1 |
GCN1 |
A |
G |
exonic |
synonymous SNV |
GCN1:NM_006836:exon33:c.T3936C:p.Y1312Y |
RS12312562 |
Gene expression of GCN1L1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Gene expression of
GCN1L1 in peripheral blood monocytes:Systolic blood pressure (SBP):Obesity
with early age of onset (age >2):Infant head circumference |
|
12 |
120608031 |
1 |
GCN1 |
A |
G |
exonic |
synonymous SNV |
GCN1:NM_006836:exon15:c.T1461C:p.T487T |
RS2286050 |
Gene expression of GCN1L1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Partial epilepsy:Gene
expression of GCN1L1 in blood:Systolic blood pressure (SBP):Resistance to
kuru in aged women despite likely exposure:Infant head circumference:Obesity
with early age of onset (age >2) |
|
12 |
120661977 |
2 |
PXN |
T |
C |
exonic |
nonsynonymous SNV |
PXN:NM_001080855:exon2:c.A217G:p.S73G,PXN:NM_001243756:exon2:c.A217G:p.S73G,PXN:NM_002859:exon2:c.A217G:p.S73G |
RS4767884 |
Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of
GCN1L1 [transcript NM_006836, probe A_23_P406105] in liver:Gene expression of
GCN1L1 in blood |
|
12 |
120960057 |
1 |
COQ5 |
C |
T |
exonic |
synonymous SNV |
COQ5:NM_032314:exon2:c.G312A:p.P104P |
RS503335 |
2 hour glucose:Waist hip ratio:Gene
expression of COQ5 in blood:Gene expression of POP5 in blood:Gene expression
of GATC in blood:Years of education:College completion |
|
12 |
121017171 |
1 |
POP5 |
A |
G |
exonic |
synonymous SNV |
POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L |
RS7174 |
Gene expression of POP5 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Eye color:Waist hip ratio:Body mass
index (BMI):Neuroblastoma (brain cancer):Gene expression of GATC in
blood:Gene expression of COQ5 in blood:Gene expression of POP5 in
blood:College completion:Type 1 diabetes, end stage renal disease vs. normal
albuminuria:Years of education |
|
12 |
121174899 |
2 |
ACADS |
T |
C |
exonic |
synonymous SNV |
ACADS:NM_000017:exon3:c.T321C:p.R107R,ACADS:NM_001302554:exon3:c.T321C:p.R107R |
RS3914 |
HOMA-IR:Fasting insulin:Methylation
levels at chr12:119647826-119647876 [hg18 coord, probe cg27522780] in
Temporal cortex:Gene expression of UNC119B (ENSG00000175970) in dendritic
cells:Red blood cell count (RBC):Mean corpuscular volume (MCV):Mean corpuscular
hemoglobin concentration (MCHC):Gene expression of ACADS (ENSG00000122971) in
dendritic cells treated with Mycobacterium tuberculosis |
|
12 |
121176679 |
2 |
ACADS |
C |
T |
exonic |
synonymous SNV |
ACADS:NM_000017:exon8:c.C990T:p.R330R,ACADS:NM_001302554:exon8:c.C978T:p.R326R |
|
12 |
121432117 |
1 |
HNF1A |
G |
C |
exonic |
synonymous SNV |
HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G |
|
12 |
121437382 |
2 |
HNF1A |
A |
G |
exonic |
nonsynonymous SNV |
HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G |
|
12 |
121442199 |
1 |
C12orf43 |
T |
A |
exonic |
synonymous SNV |
C12orf43:NM_001286197:exon5:c.A450T:p.T150T,C12orf43:NM_001286191:exon6:c.A639T:p.T213T,C12orf43:NM_001286192:exon6:c.A549T:p.T183T,C12orf43:NM_001286195:exon6:c.A516T:p.T172T,C12orf43:NM_001286196:exon6:c.A513T:p.T171T,C12orf43:NM_022895:exon6:c.A546T:p.T182T,C12orf43:NM_001286198:exon7:c.A423T:p.T141T |
RS3751151 |
LDL cholesterol:C4:Phe-PTC /
C4:Cystatin C in serum:Total cholesterol:LDL cholesterol:HDL
cholesterol:Alcohol dependence symptoms:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD) |
|
12 |
121442214 |
1 |
C12orf43 |
G |
A |
exonic |
synonymous SNV |
C12orf43:NM_001286197:exon5:c.C435T:p.I145I,C12orf43:NM_001286191:exon6:c.C624T:p.I208I,C12orf43:NM_001286192:exon6:c.C534T:p.I178I,C12orf43:NM_001286195:exon6:c.C501T:p.I167I,C12orf43:NM_001286196:exon6:c.C498T:p.I166I,C12orf43:NM_022895:exon6:c.C531T:p.I177I,C12orf43:NM_001286198:exon7:c.C408T:p.I136I |
RS3751150 |
LDL cholesterol:Serum
creatinine:Cystatin C in serum:Total cholesterol:LDL cholesterol:Systolic
blood pressure (SBP) |
|
12 |
121454257 |
2 |
C12orf43 |
T |
A |
exonic |
synonymous SNV |
C12orf43:NM_001286191:exon1:c.A21T:p.T7T,C12orf43:NM_001286192:exon1:c.A21T:p.T7T,C12orf43:NM_001286195:exon1:c.A21T:p.T7T,C12orf43:NM_001286196:exon1:c.A21T:p.T7T,C12orf43:NM_001286197:exon1:c.A21T:p.T7T,C12orf43:NM_022895:exon1:c.A21T:p.T7T |
RS2258227 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Body mass index (BMI):Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Parkinson's disease |
|
12 |
121660787 |
2 |
P2RX4 |
T |
C |
exonic |
synonymous SNV |
P2RX4:NM_001261398:exon5:c.T465C:p.S155S,P2RX4:NM_002560:exon5:c.T465C:p.S155S,P2RX4:NM_001256796:exon6:c.T513C:p.S171S |
RS25643 |
Gene expression of P2RX4 in
peripheral blood monocytes:Gene expression of CAMKK2 in peripheral blood
monocytes |
|
12 |
121666646 |
1 |
P2RX4 |
A |
G |
exonic |
nonsynonymous SNV |
P2RX4:NM_001261397:exon7:c.A643G:p.S215G,P2RX4:NM_001261398:exon7:c.A724G:p.S242G,P2RX4:NM_002560:exon7:c.A724G:p.S242G,P2RX4:NM_001256796:exon8:c.A772G:p.S258G |
RS25644 |
P2RX4 (Trancript: NM_175568)
expression in Blood tissue:Body mass index (BMI):2-Hydroxyisobutyrate
concentration |
|
12 |
121691096 |
1 |
CAMKK2 |
G |
A |
exonic |
nonsynonymous SNV |
CAMKK2:NM_001270486:exon9:c.C1087T:p.R363C,CAMKK2:NM_001270485:exon10:c.C1087T:p.R363C,CAMKK2:NM_006549:exon10:c.C1087T:p.R363C,CAMKK2:NM_153499:exon10:c.C1087T:p.R363C,CAMKK2:NM_153500:exon10:c.C1087T:p.R363C,CAMKK2:NM_172214:exon10:c.C1087T:p.R363C,CAMKK2:NM_172215:exon10:c.C1087T:p.R363C,CAMKK2:NM_172216:exon10:c.C1087T:p.R363C,CAMKK2:NM_172226:exon10:c.C1087T:p.R363C |
RS1132780 |
2-Hydroxyisobutyrate concentration |
|
12 |
121712077 |
1 |
CAMKK2 |
T |
A |
exonic |
nonsynonymous SNV |
CAMKK2:NM_001270486:exon1:c.A253T:p.T85S,CAMKK2:NM_001270485:exon2:c.A253T:p.T85S,CAMKK2:NM_006549:exon2:c.A253T:p.T85S,CAMKK2:NM_153499:exon2:c.A253T:p.T85S,CAMKK2:NM_153500:exon2:c.A253T:p.T85S,CAMKK2:NM_172214:exon2:c.A253T:p.T85S,CAMKK2:NM_172215:exon2:c.A253T:p.T85S,CAMKK2:NM_172216:exon2:c.A253T:p.T85S,CAMKK2:NM_172226:exon2:c.A253T:p.T85S |
RS3817190 |
Type 2 diabetes:2 hour
glucose:Height:2-Hydroxyisobutyrate concentration |
|
12 |
121878659 |
2 |
KDM2B |
C |
T |
exonic |
synonymous SNV |
KDM2B:NM_001005366:exon20:c.G3363A:p.Q1121Q,KDM2B:NM_032590:exon21:c.G3570A:p.Q1190Q |
RS1064951 |
Type 2 diabetes:Fasting blood
glucose:Body mass index (BMI):Diastolic blood pressure (DBP):Bipolar
disorder:Adiponectin levels:Obesity with early age of onset (age
>2):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
12 |
121880520 |
2 |
KDM2B |
G |
A |
exonic |
synonymous SNV |
KDM2B:NM_001005366:exon18:c.C2517T:p.D839D,KDM2B:NM_032590:exon19:c.C2724T:p.D908D |
RS3751131 |
Type 2 diabetes:Fasting blood
glucose:Body mass index (BMI):Diastolic blood pressure (DBP):Obesity with
early age of onset (age >2):Adiponectin levels:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
12 |
121881848 |
2 |
KDM2B |
G |
A |
exonic |
synonymous SNV |
KDM2B:NM_001005366:exon16:c.C2325T:p.Y775Y,KDM2B:NM_032590:exon16:c.C2418T:p.Y806Y |
RS10849885 |
Obesity with early age of onset
(age >2):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Coronary artery disease (CAD):Birth weight |
|
12 |
122079441 |
1 |
ORAI1 |
T |
C |
exonic |
synonymous SNV |
ORAI1:NM_032790:exon2:c.T804C:p.T268T |
RS3825175 |
Obesity with early age of onset (age
>2) |
|
12 |
122186268 |
2 |
TMEM120B |
C |
T |
exonic |
synonymous SNV |
TMEM120B:NM_001080825:exon3:c.C225T:p.L75L |
RS28651018 |
2-Hydroxyisobutyrate concentration |
|
12 |
122186317 |
2 |
TMEM120B |
G |
A |
exonic |
nonsynonymous SNV |
TMEM120B:NM_001080825:exon3:c.G274A:p.D92N |
RS28655666 |
2-Hydroxyisobutyrate concentration |
|
12 |
122243905 |
2 |
SETD1B |
C |
T |
exonic |
synonymous SNV |
SETD1B:NM_015048:exon3:c.C438T:p.I146I |
RS1168666 |
HDL cholesterol:HDL
cholesterol:Triglycerides:Microalbuminuria:Salmonella-induced pyroptosis |
|
12 |
122295335 |
2 |
HPD |
T |
C |
exonic |
nonsynonymous SNV |
HPD:NM_002150:exon4:c.A97G:p.T33A |
RS1154510 |
Triglycerides:Total
cholesterol:2-Hydroxyisobutyrate concentration:Adiponectin levels |
|
12 |
122326812 |
2 |
PSMD9 |
T |
C |
exonic |
nonsynonymous SNV |
PSMD9:NM_001261400:exon1:c.T50C:p.V17A,PSMD9:NM_002813:exon1:c.T50C:p.V17A |
RS2230681 |
Triglycerides:2 hour
glucose:HOMA-B:Nicotine dependence (smoking):Escitalopram or Nortriptyline
treated major depressive disorder:Partial epilepsy:Gene expression of WDR66
[probe ILMN_4287] in osteoblasts treated with
dexamethasone:2-Hydroxyisobutyrate concentration:Gene expression of
ENST00000391388 in blood:Variant Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration (geographic atrophy):Hypertension (early
onset hypertension):Advanced age-related macular degeneration:Adiponectin
levels |
|
12 |
122353796 |
1 |
PSMD9 |
A |
G |
exonic |
nonsynonymous SNV |
PSMD9:NM_001261400:exon3:c.A275G:p.E92G,PSMD9:NM_002813:exon5:c.A590G:p.E197G |
RS14259 |
Gene expression of PSMD9 (probeID
ILMN_1732767) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PSMD9 (probeID ILMN_1732767) in temporal cortex in Alzheimer's
disease cases and controls |
|
12 |
122812503 |
2 |
CLIP1 |
G |
C |
exonic |
nonsynonymous SNV |
CLIP1:NM_198240:exon15:c.C3102G:p.D1034E,CLIP1:NM_002956:exon16:c.C3207G:p.D1069E,CLIP1:NM_001247997:exon17:c.C3240G:p.D1080E |
RS1129167 |
LDL cholesterol:Serum
creatinine:Body mass index (BMI):Adiponectin levels |
|
12 |
122862233 |
1 |
CLIP1 |
T |
C |
exonic |
synonymous SNV |
CLIP1:NM_001247997:exon3:c.A360G:p.R120R,CLIP1:NM_002956:exon3:c.A360G:p.R120R,CLIP1:NM_198240:exon3:c.A360G:p.R120R |
|
12 |
123030788 |
1 |
KNTC1 |
G |
T |
exonic |
nonsynonymous SNV |
KNTC1:NM_014708:exon9:c.G735T:p.K245N |
RS7968222 |
Arthritis including
non-Rheumatoid:Gene expression of KNTC1 in peripheral blood
monocytes:Height:Urinary albumin-to-creatinine ratio:Gene expression of KNTC1
in blood:Primary rhegmatogenous retinal detachment:Advanced age-related
macular degeneration (geographic atrophy) |
|
12 |
123200937 |
1 |
HCAR3 |
T |
G |
exonic |
synonymous SNV |
HCAR3:NM_006018:exon1:c.A348C:p.I116I |
|
12 |
123333065 |
1 |
HIP1R |
C |
T |
exonic |
synonymous SNV |
HIP1R:NM_001303097:exon3:c.C210T:p.Y70Y,HIP1R:NM_001303099:exon3:c.C174T:p.Y58Y,HIP1R:NM_003959:exon3:c.C210T:p.Y70Y |
RS2135014 |
Microalbuminuria:Obesity with early
age of onset (age >2) |
|
12 |
123470586 |
1 |
PITPNM2 |
C |
T |
exonic |
synonymous SNV |
PITPNM2:NM_001300801:exon25:c.G4020A:p.A1340A,PITPNM2:NM_020845:exon25:c.G4038A:p.A1346A |
RS12828755 |
2-Hydroxyisobutyrate concentration |
|
12 |
123645803 |
1 |
MPHOSPH9 |
G |
A |
exonic |
synonymous SNV |
MPHOSPH9:NM_022782:exon22:c.C3261T:p.Y1087Y |
RS1051431 |
Rheumatoid arthritis:Height:Body
mass index (BMI):Height (adult males):Height (adult females):Height
(adults):2-Hydroxyisobutyrate concentration:Diastolic blood pressure
(DBP):Gene expression of SETD8 in normal prepouch ileum:Advanced age-related
macular degeneration:Years of education:Infant head circumference:College
completion:Gene expression of C12orf65 in normal prepouch ileum:Advanced
age-related macular degeneration (geographic atrophy) |
|
12 |
123799974 |
1 |
SBNO1 |
A |
G |
exonic |
synonymous SNV |
SBNO1:NM_001167856:exon23:c.T3066C:p.G1022G,SBNO1:NM_018183:exon23:c.T3063C:p.G1021G |
RS6488868 |
Differential exon level expression
of MPHOSPH9 [probe 3476020] in brain cortex:Fasting blood glucose:Rheumatoid
arthritis:Gene expression of MPHOSPH9 in peripheral blood
monocytes:Height:Body mass index (BMI):Urinary albumin-to-creatinine
ratio:2-Hydroxyisobutyrate concentration:Gene expression of SETD8 in
blood:Gene expression of MPHOSPH9 in blood:Resistance to kuru in aged women
despite likely exposure:Advanced age-related macular degeneration:Infant head
circumference:Years of education:Primary rhegmatogenous retinal
detachment:Gene expression of SBNO1 in normal prepouch ileum:Gene expression
of SBNO1 (ENSG00000139697) in dendritic cells:Advanced age-related macular
degeneration (geographic atrophy):College completion |
|
12 |
123806219 |
1 |
SBNO1 |
C |
T |
exonic |
nonsynonymous SNV |
SBNO1:NM_001167856:exon17:c.G2186A:p.S729N,SBNO1:NM_018183:exon17:c.G2183A:p.S728N |
RS1060105 |
Height:Differential exon level
expression of MPHOSPH9 [probe 3476020] in brain cortex:Rheumatoid
arthritis:Gene expression of MPHOSPH9 in peripheral blood
monocytes:Asthma:Height:Gene expression:Gene expression of CDK2AP1 [probe
ILMN_19522] in osteoblasts treated with BMP2:2-Hydroxyisobutyrate
concentration:Gene expression of CDK2AP1 [transcript NM_004642, probe
A_23_P139486] in liver:Gene expression of MPHOSPH9 in blood:Gene expression
of CDK2AP1 in blood:Diastolic blood pressure (DBP):Infant head circumference:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
SETD8 in normal prepouch ileum:College completion:Gene expression of CDK2AP1
in normal prepouch ileum:Years of education:Advanced age-related macular
degeneration |
|
12 |
124008073 |
2 |
RILPL1 |
A |
G |
exonic |
synonymous SNV |
RILPL1:NM_001319243:exon2:c.T429C:p.N143N,RILPL1:NM_178314:exon2:c.T429C:p.N143N |
RS2292500 |
Renal cell carcinoma (renal
cancer):Adiponectin levels |
|
12 |
124017850 |
1 |
RILPL1 |
G |
C |
exonic |
synonymous SNV |
RILPL1:NM_001319243:exon1:c.C180G:p.V60V,RILPL1:NM_178314:exon1:c.C180G:p.V60V |
RS28492040 |
Renal cell carcinoma (renal cancer) |
|
12 |
124069213 |
2 |
TMED2 |
T |
C |
exonic |
synonymous SNV |
TMED2:NM_001321445:exon1:c.T30C:p.L10L,TMED2:NM_006815:exon1:c.T30C:p.L10L |
|
12 |
124069214 |
1 |
TMED2 |
C |
T |
exonic |
synonymous SNV |
TMED2:NM_001321445:exon1:c.C31T:p.L11L,TMED2:NM_006815:exon1:c.C31T:p.L11L |
|
12 |
124104049 |
1 |
DDX55 |
A |
G |
exonic |
synonymous SNV |
DDX55:NM_020936:exon13:c.A1404G:p.G468G |
RS15587 |
HDL cholesterol:HDL cholesterol
change with statins |
|
12 |
124104686 |
1 |
DDX55 |
G |
A |
exonic |
synonymous SNV |
DDX55:NM_020936:exon14:c.G1802A:p.X601X |
RS3204541 |
HDL cholesterol:HDL cholesterol
change with statins:College completion |
|
12 |
124144395 |
1 |
GTF2H3 |
A |
G |
exonic |
synonymous SNV |
GTF2H3:NM_001271866:exon9:c.A609G:p.P203P,GTF2H3:NM_001271867:exon10:c.A615G:p.P205P,GTF2H3:NM_001271868:exon10:c.A300G:p.P100P,GTF2H3:NM_001516:exon11:c.A738G:p.P246P |
RS1051793 |
Parkinson's disease (PD) |
|
12 |
124829255 |
2 |
NCOR2 |
A |
G |
exonic |
synonymous SNV |
NCOR2:NM_001077261:exon33:c.T4572C:p.G1524G,NCOR2:NM_001206654:exon33:c.T4572C:p.G1524G,NCOR2:NM_006312:exon34:c.T4602C:p.G1534G |
|
12 |
124856618 |
1 |
NCOR2 |
A |
G |
exonic |
synonymous SNV |
NCOR2:NM_001077261:exon21:c.T2703C:p.A901A,NCOR2:NM_001206654:exon21:c.T2703C:p.A901A,NCOR2:NM_006312:exon22:c.T2757C:p.A919A |
RS7961196 |
Fasting blood glucose:HOMA-B:Total
cholesterol:Triglycerides:LDL cholesterol |
|
12 |
124856660 |
1 |
NCOR2 |
T |
A |
exonic |
synonymous SNV |
NCOR2:NM_001077261:exon21:c.A2661T:p.T887T,NCOR2:NM_001206654:exon21:c.A2661T:p.T887T,NCOR2:NM_006312:exon22:c.A2715T:p.T905T |
|
12 |
124979789 |
1 |
NCOR2 |
T |
G |
exonic |
synonymous SNV |
NCOR2:NM_001077261:exon3:c.A9C:p.G3G,NCOR2:NM_001206654:exon3:c.A9C:p.G3G,NCOR2:NM_006312:exon3:c.A9C:p.G3G |
|
12 |
125263061 |
1 |
SCARB1 |
C |
T |
exonic |
synonymous SNV |
SCARB1:NM_001082959:exon12:c.G1473A:p.P491P |
|
12 |
125284748 |
2 |
SCARB1 |
A |
G |
exonic |
synonymous SNV |
SCARB1:NM_001082959:exon8:c.T1050C:p.A350A,SCARB1:NM_005505:exon8:c.T1050C:p.A350A |
RS5888 |
Fasting blood glucose:HDL
cholesterol:Radiation response to therapy (radiation AUC) |
|
12 |
125298877 |
1 |
SCARB1 |
G |
A |
exonic |
synonymous SNV |
SCARB1:NM_001082959:exon4:c.C501T:p.G167G,SCARB1:NM_005505:exon4:c.C501T:p.G167G |
RS5889 |
Serum creatinine:HOMA-IR:Fasting
insulin |
|
12 |
125397750 |
2 |
UBC |
A |
G |
exonic |
nonsynonymous SNV |
UBC:NM_021009:exon2:c.T568C:p.S190P |
|
12 |
125398039 |
1 |
UBC |
G |
C |
exonic |
synonymous SNV |
UBC:NM_021009:exon2:c.C279G:p.V93V |
|
12 |
125437019 |
1 |
DHX37 |
T |
C |
exonic |
synonymous SNV |
DHX37:NM_032656:exon21:c.A2793G:p.A931A |
|
12 |
125438516 |
1 |
DHX37 |
T |
C |
exonic |
nonsynonymous SNV |
DHX37:NM_032656:exon20:c.A2605G:p.S869G |
RS4516060 |
Arthritis including
non-Rheumatoid:Differential exon level expression of DHX37 [probe 3476804] in
brain cortex:Differential exon level expression of DHX37 [probe 3476804] in
peripheral blood mononuclear cells:Infant head circumference |
|
12 |
125438523 |
1 |
DHX37 |
C |
T |
exonic |
synonymous SNV |
DHX37:NM_032656:exon20:c.G2598A:p.E866E |
|
12 |
125441359 |
1 |
DHX37 |
T |
C |
exonic |
synonymous SNV |
DHX37:NM_032656:exon18:c.A2331G:p.T777T |
RS10773127 |
HDL cholesterol:Height |
|
12 |
125448960 |
1 |
DHX37 |
C |
T |
exonic |
synonymous SNV |
DHX37:NM_032656:exon15:c.G2025A:p.T675T |
RS4076777 |
HDL cholesterol |
|
12 |
125453115 |
1 |
DHX37 |
C |
T |
exonic |
nonsynonymous SNV |
DHX37:NM_032656:exon10:c.G1373A:p.R458Q |
RS11057939 |
Lp-PLA2 activity:HDL
cholesterol:Triglycerides:Diastolic blood pressure (DBP) |
|
12 |
129293346 |
1 |
SLC15A4 |
C |
T |
exonic |
synonymous SNV |
SLC15A4:NM_145648:exon5:c.G1245A:p.S415S |
RS11059924 |
Fasting blood glucose:HOMA-B:LDL
cholesterol:Microalbuminuria:Sporadic Creutzfeldt-Jakob disease:Birth weight |
|
12 |
131276448 |
2 |
STX2 |
G |
T |
exonic |
nonsynonymous SNV |
STX2:NM_001351049:exon10:c.C800A:p.P267H |
|
12 |
132237750 |
1 |
SFSWAP |
C |
T |
exonic |
synonymous SNV |
SFSWAP:NM_001261411:exon8:c.C1164T:p.D388D,SFSWAP:NM_004592:exon8:c.C1164T:p.D388D |
RS1051219 |
Eye color:Triglycerides:Comorbid
depressive syndrome and alcohol dependence:Infant head
circumference:Transmission distortion |
|
12 |
132237848 |
2 |
SFSWAP |
T |
C |
exonic |
nonsynonymous SNV |
SFSWAP:NM_001261411:exon8:c.T1262C:p.L421P,SFSWAP:NM_004592:exon8:c.T1262C:p.L421P |
|
12 |
132250712 |
1 |
SFSWAP |
G |
C |
exonic |
synonymous SNV |
SFSWAP:NM_001261411:exon13:c.G2001C:p.L667L,SFSWAP:NM_004592:exon13:c.G2001C:p.L667L |
RS1051233 |
Infant head circumference |
|
12 |
132271113 |
2 |
SFSWAP |
T |
C |
exonic |
synonymous SNV |
SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S |
|
12 |
132396603 |
1 |
ULK1 |
C |
T |
exonic |
synonymous SNV |
ULK1:NM_003565:exon13:c.C1065T:p.D355D |
RS11616018 |
Fasting insulin:HOMA-IR |
|
12 |
132403161 |
2 |
ULK1 |
A |
G |
exonic |
nonsynonymous SNV |
ULK1:NM_003565:exon23:c.A2446G:p.T816A |
|
12 |
132416780 |
1 |
PUS1 |
C |
A |
exonic |
synonymous SNV |
PUS1:NM_001002019:exon3:c.C280A:p.R94R,PUS1:NM_001002020:exon3:c.C280A:p.R94R,PUS1:NM_025215:exon3:c.C364A:p.R122R |
|
12 |
132445670 |
1 |
EP400 |
G |
A |
exonic |
nonsynonymous SNV |
EP400:NM_015409:exon2:c.G506A:p.G169D |
|
12 |
132446281 |
1 |
EP400 |
T |
C |
exonic |
nonsynonymous SNV |
EP400:NM_015409:exon2:c.T1117C:p.Y373H |
|
12 |
133146697 |
1 |
FBRSL1 |
G |
A |
exonic |
nonsynonymous SNV |
FBRSL1:NM_001142641:exon7:c.G877A:p.A293T |
|
12 |
133160238 |
2 |
FBRSL1 |
G |
C |
exonic |
synonymous SNV |
FBRSL1:NM_001142641:exon17:c.G3012C:p.T1004T |
|
12 |
133208979 |
2 |
POLE |
T |
C |
exonic |
synonymous SNV |
POLE:NM_006231:exon45:c.A6252G:p.S2084S |
RS5745022 |
Cystatin C in serum:Gene expression
of POLE in Frontal cortex:Gene expression of POLE in Cerebellum:Gene
expression of POLE in Temporal cortex:Gene expression of POLE (probeID
ILMN_1728199) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of POLE (probeID
ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's
disease cases and controls |
|
12 |
133212582 |
1 |
POLE |
G |
A |
exonic |
synonymous SNV |
POLE:NM_006231:exon42:c.C5707T:p.L1903L |
RS5744990 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):LDL cholesterol:Gene expression of
[probe 870736 centered at chr12:131671516] in blood:Adiponectin
levels:Hypertension (early onset hypertension) |
|
12 |
133236000 |
1 |
POLE |
C |
T |
exonic |
synonymous SNV |
POLE:NM_006231:exon26:c.G3156A:p.T1052T |
RS5744857 |
LDL cholesterol:Chronic kidney
disease:Cystatin C in serum:Body mass index (BMI):Gene expression of PXMP2
(probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in
Alzheimer's disease cases and controls:Birth weight:Gene expression of PXMP2
(probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in
Alzheimer's disease cases and controls |
|
12 |
133264332 |
1 |
PXMP2 |
C |
T |
exonic |
synonymous SNV |
PXMP2:NM_018663:exon1:c.C76T:p.L26L |
|
12 |
133331459 |
1 |
ANKLE2 |
G |
C |
exonic |
nonsynonymous SNV |
ANKLE2:NM_015114:exon2:c.C442G:p.Q148E |
RS7968520 |
Triglycerides:Body mass index (BMI) |
|
12 |
133357412 |
1 |
GOLGA3 |
T |
C |
exonic |
nonsynonymous SNV |
GOLGA3:NM_005895:exon18:c.A3554G:p.K1185R |
RS2291260 |
LDL cholesterol:HDL cholesterol
change with statins:Suicide attempts in bipolar disorder (males):Gene
expression of ZNF605 in blood:Gene expression of CHFR in blood:Comorbid
depressive syndrome and alcohol dependence:Years of education |
|
12 |
133363006 |
1 |
GOLGA3 |
G |
A |
exonic |
synonymous SNV |
GOLGA3:NM_001172557:exon15:c.C3042T:p.L1014L,GOLGA3:NM_005895:exon15:c.C3042T:p.L1014L |
|
12 |
133378440 |
1 |
GOLGA3 |
C |
T |
exonic |
synonymous SNV |
GOLGA3:NM_001172557:exon8:c.G1713A:p.L571L,GOLGA3:NM_005895:exon8:c.G1713A:p.L571L |
RS2291258 |
Stabilized warfarin
dose:Differential exon level expression of CHFR [probe 3479486] in brain
cortex:Premature ovarian failure:Suicide attempts in bipolar disorder
(males):Birth weight:Primary rhegmatogenous retinal detachment |
|
12 |
133428242 |
1 |
CHFR |
G |
A |
exonic |
nonsynonymous SNV |
CHFR:NM_001161347:exon10:c.C1214T:p.A405V,CHFR:NM_001161344:exon12:c.C1490T:p.A497V,CHFR:NM_001161345:exon12:c.C1487T:p.A496V,CHFR:NM_001161346:exon12:c.C1454T:p.A485V,CHFR:NM_018223:exon12:c.C1367T:p.A456V |
RS2306541 |
Stabilized warfarin dose:HDL
cholesterol change with statins:HDL cholesterol change with statins:Cystatin
C in serum:HDL cholesterol:Body mass index (BMI):Microalbuminuria:Suicide
attempts in bipolar disorder (males):Gene expression of CHFR in blood |
|
12 |
133433173 |
2 |
CHFR |
T |
C |
exonic |
synonymous SNV |
CHFR:NM_001161347:exon8:c.A870G:p.R290R,CHFR:NM_001161344:exon10:c.A1146G:p.R382R,CHFR:NM_001161345:exon10:c.A1146G:p.R382R,CHFR:NM_001161346:exon10:c.A1110G:p.R370R,CHFR:NM_018223:exon10:c.A1023G:p.R341R |
RS2062163 |
Type 2 diabetes, combined control
dataset:Abnormal Involuntary Movement Scale:Microalbuminuria |
|
12 |
133634450 |
2 |
ZNF84 |
A |
C |
exonic |
synonymous SNV |
ZNF84:NM_001127372:exon5:c.A1149C:p.A383A,ZNF84:NM_001289971:exon5:c.A1149C:p.A383A,ZNF84:NM_001289972:exon5:c.A1149C:p.A383A,ZNF84:NM_003428:exon5:c.A1149C:p.A383A |
RS623100 |
Rheumatoid arthritis:Essential
hypertension |
|
12 |
133634950 |
1 |
ZNF84 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF84:NM_001127372:exon5:c.A1649G:p.K550R,ZNF84:NM_001289971:exon5:c.A1649G:p.K550R,ZNF84:NM_001289972:exon5:c.A1649G:p.K550R,ZNF84:NM_003428:exon5:c.A1649G:p.K550R |
|
12 |
133682655 |
1 |
ZNF140 |
A |
G |
exonic |
synonymous SNV |
ZNF140:NM_001300776:exon4:c.A483G:p.Q161Q,ZNF140:NM_001300777:exon5:c.A408G:p.Q136Q,ZNF140:NM_003440:exon5:c.A792G:p.Q264Q,ZNF140:NM_001300778:exon6:c.A483G:p.Q161Q |
RS710945 |
HOMA-B:Fasting blood glucose:Gene
expression of ZNF10 in normal prepouch ileum |
|
12 |
133778796 |
1 |
ZNF268 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF268:NM_001165884:exon3:c.C100T:p.R34W,ZNF268:NM_001165883:exon4:c.C301T:p.R101W,ZNF268:NM_001165886:exon4:c.C196T:p.R66W,ZNF268:NM_001165885:exon5:c.C397T:p.R133W,ZNF268:NM_001165881:exon6:c.C524T:p.T175M,ZNF268:NM_001165882:exon6:c.C275T:p.T92M,ZNF268:NM_003415:exon6:c.C524T:p.T175M |
RS7975069 |
Stabilized warfarin
dose:Schizophrenia:Alzheimer's disease:Gene expression of ZNF84 in
Cerebellum:Gene expression of ZNF84 in blood |
|
12 |
133780309 |
1 |
ZNF268 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF268:NM_001165881:exon6:c.G2037T:p.L679F,ZNF268:NM_001165882:exon6:c.G1788T:p.L596F,ZNF268:NM_003415:exon6:c.G2037T:p.L679F |
|
12 |
153284483 |
2 |
|
13 |
20398669 |
2 |
ZMYM5 |
T |
C |
exonic |
nonsynonymous SNV |
ZMYM5:NM_001142684:exon8:c.A1958G:p.H653R |
RS9508907 |
HDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Neuroblastoma (brain cancer):Gene expression of MPHOSPH8 in
blood:Age at death with kuru exposure |
|
13 |
20398742 |
2 |
ZMYM5 |
C |
T |
exonic |
nonsynonymous SNV |
ZMYM5:NM_001142684:exon8:c.G1885A:p.V629I |
RS9508908 |
HDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Autism:Neuroblastoma (brain cancer):Gene expression of
MPHOSPH8 in blood:Age at death with kuru exposure:Transmission
distortion:Paternal transmission distortion |
|
13 |
21205192 |
2 |
IFT88 |
G |
A |
exonic |
nonsynonymous SNV |
IFT88:NM_001318491:exon15:c.G1280A:p.S427N,IFT88:NM_006531:exon16:c.G1337A:p.S446N,IFT88:NM_001318493:exon17:c.G1364A:p.S455N,IFT88:NM_175605:exon18:c.G1364A:p.S455N |
RS9509307 |
HDL cholesterol:Gene expression of
IFT88 [probe 3480411] in peripheral blood mononuclear cells:HDL
cholesterol:Cystatin C in serum:Partial epilepsy:Gene expression of TTC10 in
CD4+ lymphocytes:Gene expression of RP11-261P13.2 in blood:Gene expression of
IFT88 in blood:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion:Years of education |
|
13 |
21620085 |
2 |
LATS2 |
T |
C |
exonic |
synonymous SNV |
LATS2:NM_014572:exon2:c.A81G:p.K27K |
RS7317471 |
HOMA-B:HOMA-IR:Fasting
insulin:Triglycerides:Height:Years of education:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy) |
|
13 |
21720956 |
2 |
SAP18 |
C |
T |
exonic |
synonymous SNV |
SAP18:NM_005870:exon3:c.C252T:p.T84T |
|
13 |
21732094 |
2 |
SKA3 |
C |
T |
exonic |
synonymous SNV |
SKA3:NM_001166017:exon7:c.G1086A:p.P362P,SKA3:NM_145061:exon7:c.G1086A:p.P362P |
RS4770121 |
HDL cholesterol:Maternal
transmission distortion |
|
13 |
22178258 |
1 |
MICU2 |
C |
T |
exonic |
synonymous SNV |
MICU2:NM_152726:exon1:c.G30A:p.R10R |
|
13 |
23907677 |
2 |
SACS |
C |
T |
exonic |
synonymous SNV |
SACS:NM_001278055:exon8:c.G9897A:p.Q3299Q,SACS:NM_014363:exon10:c.G10338A:p.Q3446Q |
|
13 |
24234517 |
2 |
TNFRSF19 |
A |
G |
exonic |
synonymous SNV |
TNFRSF19:NM_001204459:exon5:c.A228G:p.S76S,TNFRSF19:NM_001204458:exon7:c.A624G:p.S208S,TNFRSF19:NM_018647:exon7:c.A624G:p.S208S,TNFRSF19:NM_148957:exon7:c.A624G:p.S208S |
RS3751364 |
Aortic valve calcium |
|
13 |
24242165 |
1 |
TNFRSF19 |
C |
T |
exonic |
synonymous SNV |
TNFRSF19:NM_001204459:exon6:c.C387T:p.S129S,TNFRSF19:NM_001204458:exon8:c.C783T:p.S261S,TNFRSF19:NM_018647:exon8:c.C783T:p.S261S,TNFRSF19:NM_148957:exon8:c.C783T:p.S261S |
|
13 |
24243200 |
2 |
TNFRSF19 |
T |
C |
exonic |
synonymous SNV |
TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G |
|
13 |
24411772 |
2 |
MIPEP |
T |
C |
exonic |
nonsynonymous SNV |
MIPEP:NM_005932:exon13:c.A1462G:p.S488G |
|
13 |
25000617 |
1 |
PARP4 |
C |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon33:c.G4966C:p.A1656P |
RS7571 |
Systolic blood pressure
(SBP):Refractive error:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
13 |
25008588 |
2 |
PARP4 |
A |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.T4691C:p.I1564T |
RS1372085 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (broad definition):Recurrent
early onset major depressive disorder:Recurrent early onset major depressive
disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold |
|
13 |
25008630 |
2 |
PARP4 |
A |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.T4649C:p.L1550P |
RS1822135 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (broad definition):Recurrent
early onset major depressive disorder:Recurrent early onset major depressive
disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold |
|
13 |
25008903 |
2 |
PARP4 |
G |
T |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.C4376A:p.S1459Y |
|
13 |
25009099 |
2 |
PARP4 |
A |
C |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.T4180G:p.S1394A |
RS9511259 |
Spine bone mineral density
(BMD):Major depressive disorder (broad definition) (males):Major depressive
disorder (broad definition):Recurrent early onset major depressive
disorder:Recurrent early onset major depressive disorder (males):Partial
epilepsy:Systolic blood pressure (SBP):PROP taste detection threshold |
|
13 |
25009297 |
1 |
PARP4 |
G |
T |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.C3982A:p.P1328T |
RS1050112 |
Urinary free norepinephrine (nmol/d)
in children |
|
13 |
25009441 |
1 |
PARP4 |
C |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.G3838C:p.G1280R |
RS13428 |
Systolic blood pressure
(SBP):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Refractive error:Advanced age-related macular
degeneration |
|
13 |
25009485 |
1 |
PARP4 |
C |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon31:c.G3794C:p.G1265A |
RS1050110 |
Systolic blood pressure
(SBP):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular
degeneration:Refractive error |
|
13 |
25016008 |
1 |
PARP4 |
C |
T |
exonic |
synonymous SNV |
PARP4:NM_006437:exon30:c.G3642A:p.E1214E |
|
13 |
25016092 |
1 |
PARP4 |
C |
T |
exonic |
synonymous SNV |
PARP4:NM_006437:exon30:c.G3558A:p.S1186S |
|
13 |
25020863 |
2 |
PARP4 |
G |
A |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon27:c.C3322T:p.R1108C |
RS9318554 |
Recurrent early onset major
depressive disorder:Recurrent early onset major depressive disorder
(males):Partial epilepsy |
|
13 |
25021200 |
2 |
PARP4 |
A |
C |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon26:c.T3239G:p.L1080R |
|
13 |
25021211 |
2 |
PARP4 |
C |
T |
exonic |
synonymous SNV |
PARP4:NM_006437:exon26:c.G3228A:p.P1076P |
|
13 |
25021245 |
2 |
PARP4 |
A |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon26:c.T3194C:p.V1065A |
|
13 |
25029218 |
2 |
PARP4 |
C |
T |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon22:c.G2695A:p.A899T |
RS2275660 |
Rheumatoid arthritis |
|
13 |
25052261 |
1 |
PARP4 |
C |
T |
exonic |
synonymous SNV |
PARP4:NM_006437:exon13:c.G1602A:p.S534S |
|
13 |
25075859 |
1 |
PARP4 |
C |
T |
exonic |
synonymous SNV |
PARP4:NM_006437:exon3:c.G246A:p.R82R |
RS1539096 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP) |
|
13 |
25823441 |
1 |
MTMR6 |
C |
T |
exonic |
nonsynonymous SNV |
MTMR6:NM_004685:exon14:c.G1795A:p.A599T |
|
13 |
25823451 |
1 |
MTMR6 |
A |
G |
exonic |
synonymous SNV |
MTMR6:NM_004685:exon14:c.T1785C:p.Y595Y |
RS17082035 |
Triglycerides:Triglycerides:Total
cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol
dependence |
|
13 |
25876011 |
2 |
NUP58 |
G |
A |
exonic |
nonsynonymous SNV |
NUP58:NM_001008564:exon1:c.G100A:p.A34T,NUP58:NM_014089:exon1:c.G100A:p.A34T |
RS12871898 |
Hand osteoarthritis:LDL
cholesterol:Optic cup-to-disc ratio:Rheumatoid arthritis:Gene expression of
IFITM4P in peripheral blood monocytes:LDL cholesterol:Asthma |
|
13 |
26788114 |
1 |
RNF6 |
A |
G |
exonic |
synonymous SNV |
RNF6:NM_005977:exon5:c.T1905C:p.C635C,RNF6:NM_183043:exon5:c.T1905C:p.C635C,RNF6:NM_183044:exon5:c.T1905C:p.C635C |
RS301047 |
Rheumatoid arthritis:Waist hip
ratio:Bipolar disorder |
|
13 |
28009851 |
1 |
MTIF3 |
G |
A |
exonic |
synonymous SNV |
MTIF3:NM_001166261:exon5:c.C798T:p.D266D,MTIF3:NM_001166262:exon5:c.C798T:p.D266D,MTIF3:NM_152912:exon5:c.C798T:p.D266D,MTIF3:NM_001166263:exon6:c.C798T:p.D266D |
RS7669 |
Rheumatoid arthritis:Gene
expression of LRRC59 in peripheral blood monocytes:Gene expression of TEP1 in
peripheral blood monocytes:Gene expression of ZNF93 in peripheral blood
monocytes:Gene expression of ZNF813 in peripheral blood monocytes:Gene
expression of PLCL1 in peripheral blood monocytes:Salmonella-induced
pyroptosis |
|
13 |
28009920 |
2 |
MTIF3 |
G |
C |
exonic |
nonsynonymous SNV |
MTIF3:NM_001166261:exon5:c.C729G:p.F243L,MTIF3:NM_001166262:exon5:c.C729G:p.F243L,MTIF3:NM_152912:exon5:c.C729G:p.F243L,MTIF3:NM_001166263:exon6:c.C729G:p.F243L |
RS1218825 |
Cystatin C in serum:Pulmonary
tuberculosis |
|
13 |
28239940 |
1 |
POLR1D |
G |
C |
exonic |
synonymous SNV |
POLR1D:NM_001206559:exon3:c.G135C:p.A45A,POLR1D:NM_152705:exon3:c.G219C:p.A73A |
RS11029 |
HDL cholesterol:Response to Lithium
Treatment for Bipolar disorder:Gene expression of POLR1D (probeID
ILMN_1742427) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of POLR1D (probeID ILMN_1742427) in cerebellum in
Alzheimer's disease cases and controls:Parkinson's disease:Obesity with early
age of onset (age >2) |
|
13 |
28239970 |
1 |
POLR1D |
G |
A |
exonic |
synonymous SNV |
POLR1D:NM_001206559:exon3:c.G165A:p.P55P,POLR1D:NM_152705:exon3:c.G249A:p.P83P |
RS14105 |
HDL cholesterol |
|
13 |
30091819 |
2 |
SLC7A1 |
G |
C |
exonic |
synonymous SNV |
SLC7A1:NM_003045:exon10:c.C1401G:p.G467G |
RS2482090 |
Serum creatinine:Mitral annular
calcium |
|
13 |
30097543 |
1 |
SLC7A1 |
C |
T |
exonic |
synonymous SNV |
SLC7A1:NM_003045:exon7:c.G909A:p.G303G |
|
13 |
31231806 |
2 |
USPL1 |
T |
C |
exonic |
nonsynonymous SNV |
USPL1:NM_001321534:exon6:c.T605C:p.L202S,USPL1:NM_001321533:exon7:c.T605C:p.L202S,USPL1:NM_001321532:exon8:c.T1049C:p.L350S,USPL1:NM_005800:exon9:c.T1592C:p.L531S |
RS7984952 |
Coronary heart disease including
Myocardial Infarction (MI), Coronary Insufficiency, CHD death:Irritible bowel
syndrome:Triglycerides:Alzheimer's disease:Gene expression of USPL1 in
peripheral blood monocytes:Gene expression of USPL1 [probe ILMN_27577] in
osteoblasts treated with PGE2:Gene expression of USPL1 in blood:Gene
expression of ALOX5AP in blood:Sporadic Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration (geographic atrophy):Transmission
distortion:Years of education |
|
13 |
31233063 |
2 |
USPL1 |
G |
A |
exonic |
nonsynonymous SNV |
USPL1:NM_001321534:exon6:c.G1862A:p.S621N,USPL1:NM_001321533:exon7:c.G1862A:p.S621N,USPL1:NM_001321532:exon8:c.G2306A:p.S769N,USPL1:NM_005800:exon9:c.G2849A:p.S950N |
RS3742302 |
Irritible bowel
syndrome:Triglycerides:Alzheimer's disease:Gene expression of USPL1 in
peripheral blood monocytes:Gene expression of USPL1 in blood:Gene expression
of ALOX5AP in blood:Age at death with kuru exposure:Sporadic
Creutzfeldt-Jakob disease:Transmission distortion:Years of education:Advanced
age-related macular degeneration (geographic atrophy) |
|
13 |
32785086 |
2 |
FRY |
G |
A |
exonic |
synonymous SNV |
FRY:NM_023037:exon34:c.G4506A:p.E1502E |
|
13 |
33703656 |
1 |
STARD13 |
T |
C |
exonic |
synonymous SNV |
STARD13:NM_001243466:exon5:c.A1134G:p.E378E,STARD13:NM_001243474:exon5:c.A804G:p.E268E,STARD13:NM_052851:exon5:c.A804G:p.E268E,STARD13:NM_178006:exon5:c.A1158G:p.E386E,STARD13:NM_178007:exon5:c.A1134G:p.E378E,STARD13:NM_001243476:exon9:c.A1053G:p.E351E |
RS495680 |
PROP taste detection
threshold:Aortic valve calcium:Salmonella-induced pyroptosis |
|
13 |
35615150 |
2 |
NBEA |
G |
A |
exonic |
synonymous SNV |
NBEA:NM_015678:exon2:c.G375A:p.L125L |
|
13 |
35615256 |
2 |
NBEA |
G |
A |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon2:c.G481A:p.E161K |
|
13 |
35615296 |
2 |
NBEA |
T |
G |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon2:c.T521G:p.I174R |
|
13 |
35624491 |
2 |
NBEA |
G |
T |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon6:c.G931T:p.G311C |
|
13 |
35630188 |
2 |
NBEA |
G |
A |
exonic |
synonymous SNV |
NBEA:NM_015678:exon7:c.G1014A:p.R338R |
|
13 |
35630202 |
2 |
NBEA |
G |
A |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon7:c.G1028A:p.R343Q |
|
13 |
40229891 |
1 |
COG6 |
G |
A |
exonic |
nonsynonymous SNV |
COG6:NM_001145079:exon1:c.G28A:p.A10T,COG6:NM_020751:exon1:c.G28A:p.A10T |
RS3812882 |
Rheumatoid arthritis:Gene
expression of COG6 in CD4+ lymphocytes:Gene expression of COG6 in
blood:Tourette's syndrome:Parkinson's disease:Aortic valve calcium:Gene
expression of COG6 in normal prepouch ileum |
|
13 |
40229957 |
1 |
COG6 |
T |
A |
exonic |
nonsynonymous SNV |
COG6:NM_001145079:exon1:c.T94A:p.C32S,COG6:NM_020751:exon1:c.T94A:p.C32S |
RS3812883 |
Cystatin C in serum:Rheumatoid
arthritis:Gene expression of COG6 in normal prepouch ileum:Aortic valve
calcium |
|
13 |
40293428 |
1 |
COG6 |
T |
C |
exonic |
nonsynonymous SNV |
COG6:NM_001145079:exon14:c.T1340C:p.M447T,COG6:NM_020751:exon14:c.T1340C:p.M447T |
|
13 |
41515286 |
1 |
ELF1 |
T |
A |
exonic |
nonsynonymous SNV |
ELF1:NM_001145353:exon7:c.A955T:p.T319S,ELF1:NM_172373:exon8:c.A1027T:p.T343S |
RS1056820 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
13 |
41533052 |
1 |
ELF1 |
T |
C |
exonic |
nonsynonymous SNV |
ELF1:NM_001145353:exon2:c.A173G:p.N58S,ELF1:NM_172373:exon3:c.A173G:p.N58S |
RS7799 |
Simpson-Angus Scale:Autism:Obesity
(body mass index (BMI)):Body mass index (BMI):Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (geographic atrophy) |
|
13 |
41705495 |
2 |
KBTBD6 |
A |
G |
exonic |
synonymous SNV |
KBTBD6:NM_152903:exon1:c.T1153C:p.L385L |
|
13 |
41834744 |
1 |
MTRF1 |
C |
T |
exonic |
synonymous SNV |
MTRF1:NM_004294:exon2:c.G300A:p.E100E |
RS2297555 |
Childhood acute lymphoblastic
leukemia:Cystatin C in serum:Gene expression of MTRF1 [transcript NM_004294,
probe A_23_P37005] in liver |
|
13 |
41902939 |
2 |
NAA16 |
T |
C |
exonic |
synonymous SNV |
NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N |
RS3812896 |
HOMA-B:College
completion:Adiponectin levels |
|
13 |
46067593 |
1 |
COG3 |
G |
A |
exonic |
synonymous SNV |
COG3:NM_031431:exon12:c.G1299A:p.E433E |
RS2985959 |
Urinary albumin-to-creatinine ratio |
|
13 |
46103935 |
2 |
COG3 |
A |
G |
exonic |
nonsynonymous SNV |
COG3:NM_031431:exon21:c.A2240G:p.N747S |
RS2274285 |
Eye color:Rheumatoid arthritis |
|
13 |
46108853 |
2 |
COG3 |
T |
C |
exonic |
nonsynonymous SNV |
COG3:NM_031431:exon23:c.T2474C:p.L825S |
|
13 |
46108854 |
2 |
COG3 |
G |
A |
exonic |
synonymous SNV |
COG3:NM_031431:exon23:c.G2475A:p.L825L |
|
13 |
46629944 |
1 |
CPB2 |
A |
G |
exonic |
nonsynonymous SNV |
CPB2:NM_001278541:exon9:c.T929C:p.I310T,CPB2:NM_001872:exon10:c.T1040C:p.I347T |
RS1926447 |
Abnormal Involuntary Movement
Scale:Venous thrombosis:Obsessive-compulsive disorder (OCD) |
|
13 |
46641466 |
1 |
CPB2 |
A |
G |
exonic |
synonymous SNV |
CPB2:NM_001872:exon7:c.T678C:p.D226D |
RS9316179 |
Bipolar disorder:Abnormal
Involuntary Movement Scale:Bipolar disorder:Sarcoidosis |
|
13 |
46641481 |
1 |
CPB2 |
T |
C |
exonic |
synonymous SNV |
CPB2:NM_001872:exon7:c.A663G:p.P221P |
RS7337140 |
Abnormal Involuntary Movement
Scale:HOMA-B:Acute lung injury following major trauma |
|
13 |
46648094 |
1 |
CPB2 |
C |
T |
exonic |
nonsynonymous SNV |
CPB2:NM_001278541:exon6:c.G505A:p.A169T,CPB2:NM_001872:exon6:c.G505A:p.A169T |
RS3742264 |
Abnormal Involuntary Movement
Scale:Sarcoidosis |
|
13 |
47308109 |
2 |
LRCH1 |
A |
G |
exonic |
synonymous SNV |
LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A |
|
13 |
48547467 |
2 |
SUCLA2 |
A |
T |
exonic |
nonsynonymous SNV |
SUCLA2:NM_003850:exon5:c.T595A:p.S199T |
RS7320366 |
Simpson-Angus Scale:Total
cholesterol:HDL cholesterol change with statins:Gene expression of SUCLA2
(probeID ILMN_2150019) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of SUCLA2 (probeID ILMN_2150019) in temporal cortex
in Alzheimer's disease cases and controls |
|
13 |
50080847 |
1 |
PHF11;SETDB2-PHF11 |
A |
G |
exonic |
synonymous SNV |
PHF11:NM_001040443:exon2:c.A171G:p.L57L,PHF11:NM_001040444:exon2:c.A54G:p.L18L,SETDB2-PHF11:NM_001320727:exon12:c.A1653G:p.L551L |
RS2031532 |
Neuroticism:Gene expression of
PHF11 in peripheral blood monocytes:Gene expression of RCBTB1 in peripheral
blood monocytes:Gene expression of DHRS13 in peripheral blood monocytes:Left
ventricular mass (LV mass) index:Gene expression of PHF11 (probeID ILMN_2390162)
in cerebellum in non-Alzheimer's disease samples:Gene expression of PHF11
(probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID
ILMN_2390162) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of RCBTB1 in normal prepouch ileum:Gene expression of PHF11
(probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases:Gene
expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's
disease cases |
|
13 |
50092249 |
1 |
PHF11;SETDB2-PHF11 |
C |
T |
exonic |
synonymous SNV |
PHF11:NM_001040443:exon4:c.C420T:p.D140D,PHF11:NM_001040444:exon4:c.C303T:p.D101D,SETDB2-PHF11:NM_001320727:exon14:c.C1902T:p.D634D |
|
13 |
50123622 |
1 |
RCBTB1 |
G |
C |
exonic |
synonymous SNV |
RCBTB1:NM_018191:exon9:c.C1017G:p.P339P |
RS3751384 |
Myopia |
|
13 |
50126382 |
1 |
RCBTB1 |
G |
A |
exonic |
synonymous SNV |
RCBTB1:NM_018191:exon7:c.C643T:p.L215L |
RS2274278 |
Gene expression of PHF11 (probeID
ILMN_2390162) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's
disease cases and controls |
|
13 |
50141345 |
1 |
RCBTB1 |
G |
A |
exonic |
nonsynonymous SNV |
RCBTB1:NM_018191:exon3:c.C71T:p.A24V |
RS4942848 |
Eye color:Premature ovarian
failure:Total cholesterol:Gene expression of PHF11 in peripheral blood
monocytes:Gene expression of RCBTB1 in peripheral blood monocytes:Gene
expression of CUGBP1 in peripheral blood monocytes:Gene expression of EBPL in
peripheral blood monocytes:LDL cholesterol:Total cholesterol:Asthma:Alcohol
consumption:Neuroblastoma (brain cancer):Gene expression of PHF11 in
blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Gene expression of
PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease
cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in
non-Alzheimer's disease samples:Gene expression of PHF11 (probeID
ILMN_2390162) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in
cerebellum in Alzheimer's disease cases:Myopia:Gene expression of PHF11
(probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex
in Progressive Supranuclear Palsy cases |
|
13 |
50283819 |
1 |
KPNA3 |
T |
C |
exonic |
synonymous SNV |
KPNA3:NM_002267:exon12:c.A921G:p.A307A |
RS17073322 |
LDL cholesterol |
|
13 |
50296115 |
2 |
KPNA3 |
C |
T |
exonic |
synonymous SNV |
KPNA3:NM_002267:exon9:c.G702A:p.P234P |
RS1127021 |
HDL cholesterol:Fat mass change
(kg/y) in children |
|
13 |
52343391 |
1 |
DHRS12 |
C |
T |
exonic |
nonsynonymous SNV |
DHRS12:NM_024705:exon8:c.G598A:p.G200R,DHRS12:NM_001270424:exon9:c.G745A:p.G249R |
RS10676 |
Asthma |
|
13 |
52709938 |
1 |
NEK3 |
A |
C |
exonic |
synonymous SNV |
NEK3:NM_001146099:exon13:c.T1185G:p.P395P,NEK3:NM_002498:exon14:c.T1236G:p.P412P,NEK3:NM_152720:exon14:c.T1236G:p.P412P |
RS2296351 |
Alzheimer's disease:HDL
cholesterol:Gene expression of UTP14C in blood:Years of education |
|
13 |
52951797 |
2 |
THSD1 |
C |
T |
exonic |
nonsynonymous SNV |
THSD1:NM_199263:exon4:c.G2149A:p.V717I,THSD1:NM_018676:exon5:c.G2308A:p.V770I |
|
13 |
52951826 |
2 |
THSD1 |
C |
G |
exonic |
nonsynonymous SNV |
THSD1:NM_199263:exon4:c.G2120C:p.R707P,THSD1:NM_018676:exon5:c.G2279C:p.R760P |
|
13 |
52951858 |
2 |
THSD1 |
G |
T |
exonic |
synonymous SNV |
THSD1:NM_199263:exon4:c.C2088A:p.A696A,THSD1:NM_018676:exon5:c.C2247A:p.A749A |
|
13 |
53035783 |
2 |
CKAP2 |
T |
C |
exonic |
synonymous SNV |
CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T |
|
13 |
53035925 |
2 |
CKAP2 |
A |
G |
exonic |
nonsynonymous SNV |
CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V |
|
13 |
73301728 |
1 |
MZT1 |
T |
C |
exonic |
nonsynonymous SNV |
MZT1:NM_001071775:exon1:c.A13G:p.S5G |
|
13 |
75884216 |
2 |
TBC1D4 |
C |
T |
exonic |
nonsynonymous SNV |
TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I |
RS1062087 |
Partial epilepsy:Neuroblastoma
(brain cancer):Late onset Alzheimer's disease:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
13 |
75936519 |
2 |
TBC1D4 |
C |
G |
exonic |
synonymous SNV |
TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G |
|
13 |
76055820 |
1 |
TBC1D4 |
G |
C |
exonic |
synonymous SNV |
TBC1D4:NM_001286658:exon1:c.C84G:p.P28P,TBC1D4:NM_001286659:exon1:c.C84G:p.P28P,TBC1D4:NM_014832:exon1:c.C84G:p.P28P |
RS7327548 |
Total cholesterol:LDL cholesterol |
|
13 |
76378459 |
1 |
LMO7 |
T |
C |
exonic |
synonymous SNV |
LMO7:NM_001306080:exon8:c.T696C:p.F232F,LMO7:NM_005358:exon9:c.T852C:p.F284F |
RS625033 |
LDL cholesterol |
|
13 |
76397731 |
1 |
LMO7 |
G |
A |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon12:c.G1972A:p.V658I,LMO7:NM_001330583:exon13:c.G1972A:p.V658I,LMO7:NM_005358:exon14:c.G1825A:p.V609I,LMO7:NM_001306080:exon15:c.G2671A:p.V891I |
RS4884021 |
LDL cholesterol:Cystatin C in
serum:Hypertension (early onset hypertension):Advanced age-related macular
degeneration (geographic atrophy) |
|
13 |
76409436 |
1 |
LMO7 |
A |
G |
exonic |
synonymous SNV |
LMO7:NM_015842:exon15:c.A2595G:p.L865L,LMO7:NM_001330583:exon16:c.A2595G:p.L865L,LMO7:NM_005358:exon17:c.A2448G:p.L816L,LMO7:NM_001306080:exon18:c.A3294G:p.L1098L |
RS2273997 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
13 |
76423248 |
2 |
LMO7 |
T |
C |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_001330583:exon25:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T,LMO7:NM_001306080:exon27:c.T4184C:p.M1395T |
RS7986131 |
Eye color:Triglycerides:Late onset
Alzheimer's disease:College completion:Years of education:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
13 |
76427347 |
1 |
LMO7 |
C |
A |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon25:c.C3785A:p.P1262Q,LMO7:NM_001330583:exon26:c.C3785A:p.P1262Q,LMO7:NM_005358:exon27:c.C3638A:p.P1213Q,LMO7:NM_001306080:exon28:c.C4484A:p.P1495Q |
RS7988661 |
LDL cholesterol:Abnormal Involuntary
Movement Scale:Parkinson's disease |
|
13 |
76427403 |
1 |
LMO7 |
G |
A |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon25:c.G3841A:p.V1281M,LMO7:NM_001330583:exon26:c.G3841A:p.V1281M,LMO7:NM_005358:exon27:c.G3694A:p.V1232M,LMO7:NM_001306080:exon28:c.G4540A:p.V1514M |
|
13 |
76427410 |
1 |
LMO7 |
C |
G |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon25:c.C3848G:p.P1283R,LMO7:NM_001330583:exon26:c.C3848G:p.P1283R,LMO7:NM_005358:exon27:c.C3701G:p.P1234R,LMO7:NM_001306080:exon28:c.C4547G:p.P1516R |
RS7988841 |
LDL cholesterol:Parkinson's disease |
|
13 |
77632470 |
1 |
MYCBP2 |
C |
T |
exonic |
synonymous SNV |
MYCBP2:NM_015057:exon78:c.G13212A:p.E4404E |
|
13 |
79940811 |
1 |
RBM26 |
T |
C |
exonic |
synonymous SNV |
RBM26:NM_001286631:exon7:c.A1092G:p.V364V,RBM26:NM_001286632:exon7:c.A1092G:p.V364V,RBM26:NM_022118:exon7:c.A1092G:p.V364V |
RS7327603 |
HDL cholesterol change with
statins:Diastolic blood pressure (DBP):Advanced age-related macular
degeneration |
|
13 |
80911525 |
1 |
SPRY2 |
G |
A |
exonic |
nonsynonymous SNV |
SPRY2:NM_001318536:exon2:c.C316T:p.P106S,SPRY2:NM_001318537:exon2:c.C316T:p.P106S,SPRY2:NM_001318538:exon2:c.C316T:p.P106S,SPRY2:NM_005842:exon2:c.C316T:p.P106S |
RS504122 |
Abnormal Involuntary Movement
Scale:Simpson-Angus Scale:Parkinson's disease (PD):Late onset Alzheimer's
disease:Age at death with kuru exposure:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels:Mitral annular
calcium:Parkinson's disease |
|
13 |
95726541 |
2 |
ABCC4 |
A |
G |
exonic |
synonymous SNV |
ABCC4:NM_001301829:exon22:c.T2703C:p.F901F,ABCC4:NM_005845:exon23:c.T2844C:p.F948F |
RS1189466 |
HDL cholesterol:Cystatin C in serum |
|
13 |
96506664 |
2 |
UGGT2 |
A |
G |
exonic |
synonymous SNV |
UGGT2:NM_020121:exon35:c.T4074C:p.T1358T |
RS11070154 |
Waist hip ratio:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
13 |
96540204 |
2 |
UGGT2 |
T |
G |
exonic |
nonsynonymous SNV |
UGGT2:NM_020121:exon26:c.A2980C:p.M994L |
RS12876018 |
Differential exon level expression
of UGCGL2 [probeset 3521542] in brain cortex:Barnes Akathisia Rating
Scale:Triglycerides:Waist hip ratio:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
13 |
96555149 |
1 |
UGGT2 |
C |
T |
exonic |
nonsynonymous SNV |
UGGT2:NM_020121:exon21:c.G2461A:p.A821T |
RS33949518 |
Salmonella-induced pyroptosis |
|
13 |
96638636 |
2 |
UGGT2 |
A |
C |
exonic |
nonsynonymous SNV |
UGGT2:NM_020121:exon9:c.T982G:p.S328A |
RS816142 |
Childhood acute lymphoblastic
leukemia:LDL cholesterol change with statins:Total cholesterol change with
statins:Cystatin C in serum:Gene expression of UGCGL2 in peripheral blood
monocytes:HDL cholesterol:Height |
|
13 |
96638651 |
1 |
UGGT2 |
C |
T |
exonic |
nonsynonymous SNV |
UGGT2:NM_020121:exon9:c.G967A:p.A323T |
RS12863903 |
Cystatin C in serum:Gene
expression of CXXC1 in peripheral blood monocytes:Gene expression of ATP5SL
in peripheral blood monocytes:Gene expression of CHCHD9 in peripheral blood
monocytes:Gene expression of PDCD5 in peripheral blood monocytes:Gene expression
of LIMK1 in peripheral blood monocytes:Gene expression of ANAPC2 in
peripheral blood monocytes:Gene expression of ATP5D in peripheral blood
monocytes:Gene expression of LASP1 in peripheral blood monocytes:Gene
expression of RBM22 in peripheral blood monocytes:Gene expression of TWIST1
in peripheral blood monocytes:Gene expression of MAN2C1 in peripheral blood
monocytes:Gene expression of AMDHD2 in peripheral blood monocytes:Gene
expression of TOLLIP in peripheral blood monocytes:Gene expression of RPL27
in peripheral blood monocytes:Gene expression of EIF4G1 in peripheral blood
monocytes:Gene expression of ACADS in peripheral blood monocytes:Gene
expression of NDUFS7 in peripheral blood monocytes:Gene expression of PRMT7
in peripheral blood monocytes:Gene expression of GAS7 in peripheral blood
monocytes:Gene expression of ARF5 in peripheral blood monocytes:Gene
expression of TWF2 in peripheral blood monocytes:Gene expression of EIF4H in
peripheral blood monocytes:Gene expression of FTHL7 in peripheral blood
monocytes:Gene expression of ARL6IP4 in peripheral blood monocytes:Gene
expression of ORAI1 in peripheral blood monocytes:Gene expression of LSM2 in
peripheral blood monocytes:Gene expression of TOMM7 in peripheral blood
monocytes:Gene expression of PRDX5 in peripheral blood monocytes:Gene
expression of GLTSCR1 in peripheral blood monocytes:Gene expression of PUF60
in peripheral blood monocytes:Gene expression of C1QL2 in peripheral blood
monocytes:Gene expression of RPS19BP1 in peripheral blood monocytes:Gene
expression of PPID in peripheral blood monocytes:Gene expression of RRAGA in
peripheral blood monocytes:Gene expression of VEZF1 in peripheral blood
monocytes:Gene expression of SREBF2 in peripheral blood monocytes:Gene
expression of TXNIP in peripheral blood monocytes:Gene expression of TAOK2 in
peripheral blood monocytes:Gene expression of PRIM2 in peripheral blood
monocytes:Gene expression of ANKRD33 in peripheral blood monocytes:Gene
expression of GPR132 in peripheral blood monocytes:Gene expression of STX10
in peripheral blood monocytes:Gene expression of CHP in peripheral blood
monocytes:Gene expression of FBXW5 in peripheral blood monocytes:Gene
expression of AP3B1 in peripheral blood monocytes:Gene expression of CIB1 in
peripheral blood monocytes:Gene expression of ZNHIT1 in peripheral blood
monocytes:Gene expression of PSME3 in peripheral blood monocytes:Gene
expression of NFE2L1 in peripheral blood monocytes:Gene expression of BCAT2
in peripheral blood monocytes:Gene expression of EMP3 in peripheral blood
monocytes:Gene expression of RNH1 in peripheral blood monocytes:Gene
expression of USP7 in peripheral blood monocytes:Gene expression of LIN54 in
peripheral blood monocytes:Gene expression of SLC25A3 in peripheral blood monocytes:Gene
expression of NTHL1 in peripheral blood monocytes:Gene expression of KRIT1 in
peripheral blood monocytes:Gene expression of RPS2 in peripheral blood
monocytes:Gene expression of QTRT1 in peripheral blood monocytes:Gene
expression of DCTN2 in peripheral blood monocytes:Gene expression of POLR3A
in peripheral blood monocytes:Gene expression of PI4KAP2 in peripheral blood
monocytes:Gene expression of GNB2L1 in peripheral blood monocytes:Gene
expression of RXRA in peripheral blood monocytes:Gene expression of RALY in
peripheral blood monocytes:Gene expression of TBCC in peripheral blood
monocytes:Gene expression of TMEM184B in peripheral blood monocytes:Gene
expression of ARF1 in peripheral blood monocytes:Gene expression of SHARPIN
in peripheral blood monocytes:Gene expression of CAND2 in peripheral blood
monocytes:Gene expression of PTGES2 in peripheral blood monocytes:Gene
expression of GLT25D1 in peripheral blood monocytes:Gene expression of SSNA1
in peripheral blood monocytes:Gene expression of TCIRG1 in peripheral blood
monocytes:Gene expression of CDIPT in peripheral blood monocytes:Gene
expression of PI4KB in peripheral blood monocytes:Gene expression of MRPL41
in peripheral blood monocytes:Gene expression of PPP2R2A in peripheral blood
monocytes:Gene expression of TNIP2 in peripheral blood monocytes:Gene
expression of CDC37 in peripheral blood monocytes:Gene expression of BCL2L13
in peripheral blood monocytes:Gene expression of GTF3C2 in peripheral blood
monocytes:Gene expression of PAF1 in peripheral blood monocytes:Gene
expression of LONP1 in peripheral blood monocytes:Gene expression of CASP2 in
peripheral blood monocytes:Gene expression of TOB1 in peripheral blood
monocytes:Gene expression of ECHS1 in peripheral blood monocytes:Gene
expression of SLC8A1 in peripheral blood monocytes:Gene expression of ACTB in
peripheral blood monocytes:Gene expression of SNTA1 in peripheral blood
monocytes:Gene expression of ARPC4 in peripheral blood monocytes:Gene
expression of INPPL1 in peripheral blood monocytes:Gene expression of AQP6 in
peripheral blood monocytes:Gene expression of ALDH16A1 in peripheral blood
monocytes:Gene expression of GPX1 in peripheral blood monocytes:Gene
expression of EXTL3 in peripheral blood monocytes:Gene expression of CDK2AP2
in peripheral blood monocytes:Gene expression of CCDC88B in peripheral blood
monocytes:Gene expression of TMEM160 in peripheral blood monocytes:Gene
expression of SLC9A4 in peripheral blood monocytes:Birth weight:Acute lung
injury following major trauma |
13 |
99100547 |
1 |
FARP1 |
T |
C |
exonic |
synonymous SNV |
FARP1:NM_005766:exon27:c.T3114C:p.S1038S,FARP1:NM_001286839:exon28:c.T3207C:p.S1069S |
RS12261 |
Spine bone mineral density
(BMD):Total cholesterol:Suicide attempts in bipolar disorder:Gene expression
of STK24 in blood:Parkinson's disease:College completion:Years of
education:Salmonella-induced pyroptosis:Refractive error |
|
13 |
99112680 |
2 |
STK24 |
C |
T |
exonic |
synonymous SNV |
STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P |
|
13 |
100518580 |
2 |
CLYBL |
A |
G |
exonic |
nonsynonymous SNV |
CLYBL:NM_206808:exon6:c.A721G:p.I241V |
RS3783185 |
Irritible bowel syndrome:Rheumatoid
arthritis:Schizophrenia:Fasting blood glucose:Gene expression of CLYBL in
peripheral blood monocytes:Gene expression of ZNF768 in peripheral blood
monocytes:Gene expression of XPA in peripheral blood monocytes:Autism:Gene
expression of CLYBL in blood:Birth weight:Primary rhegmatogenous retinal
detachment |
|
13 |
100543648 |
1 |
CLYBL |
C |
T |
exonic |
nonsynonymous SNV |
CLYBL:NM_206808:exon8:c.C1004T:p.T335I |
|
13 |
101287340 |
1 |
TMTC4 |
C |
T |
exonic |
nonsynonymous SNV |
TMTC4:NM_001286453:exon8:c.G922A:p.V308I,TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_001350577:exon10:c.G1249A:p.V417I,TMTC4:NM_001350572:exon11:c.G1255A:p.V419I,TMTC4:NM_001350574:exon11:c.G1429A:p.V477I,TMTC4:NM_001350576:exon11:c.G1306A:p.V436I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001350571:exon12:c.G1486A:p.V496I |
RS946837 |
Gene expression of TMTC4 [probe
1554101_a_at] in lymphoblastoid cell lines:Gene expression of TMTC4 [probe
1554102_a_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene
expression of TMTC4 in CD4+ lymphocytes:Gene expression of TMTC4 in blood:Gene
expression of TMTC4 [probeset 1554102_a_at] in sputum:Sporadic
Creutzfeldt-Jakob disease:Gene expression of TMTC4 in normal prepouch
ileum:Hypertension (early onset hypertension):Years of education |
|
13 |
101287365 |
2 |
TMTC4 |
T |
C |
exonic |
synonymous SNV |
TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A |
RS946838 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Mitral annular calcium |
|
13 |
103515288 |
1 |
BIVM-ERCC5;ERCC5 |
G |
C |
exonic |
nonsynonymous SNV |
ERCC5:NM_000123:exon8:c.G1789C:p.V597L,BIVM-ERCC5:NM_001204425:exon16:c.G3151C:p.V1051L |
|
13 |
103527849 |
2 |
BIVM-ERCC5;ERCC5 |
G |
C |
exonic |
nonsynonymous SNV |
ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R |
|
13 |
103527930 |
2 |
BIVM-ERCC5;ERCC5 |
G |
C |
exonic |
nonsynonymous SNV |
ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R |
|
13 |
111176393 |
2 |
RAB20 |
A |
G |
exonic |
synonymous SNV |
RAB20:NM_017817:exon2:c.T324C:p.F108F |
RS419244 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Premature ovarian failure:Fasting
blood glucose:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic
blood pressure (DBP):PROP taste detection threshold |
|
13 |
111176519 |
2 |
RAB20 |
G |
T |
exonic |
synonymous SNV |
RAB20:NM_017817:exon2:c.C198A:p.G66G |
RS375814 |
Triglycerides:Triglycerides change
with statins:Refractive error |
|
13 |
111298392 |
1 |
CARS2 |
A |
G |
exonic |
synonymous SNV |
CARS2:NM_024537:exon12:c.T1239C:p.D413D |
RS436462 |
Differential exon level expression
of CARS2 [probe 3525564] in brain cortex:Differential exon level expression
of CARS2 [probe 3525564] in peripheral blood mononuclear cells:Gene
expression of CARS2 [probe 3525538] in peripheral blood mononuclear cells |
|
13 |
111319754 |
1 |
CARS2 |
T |
C |
exonic |
synonymous SNV |
CARS2:NM_024537:exon8:c.A852G:p.E284E |
|
13 |
111340342 |
1 |
CARS2 |
G |
A |
exonic |
synonymous SNV |
CARS2:NM_024537:exon4:c.C417T:p.L139L |
RS2304767 |
Differential exon level expression
of CARS2 [probe 3525598] in brain cortex:Gene expression of RP11-90L1.3 in
blood:Age at death with kuru exposure:Maternal transmission
distortion:Transmission distortion |
|
13 |
113140349 |
1 |
TUBGCP3 |
A |
G |
exonic |
synonymous SNV |
TUBGCP3:NM_001286277:exon22:c.T2652C:p.R884R,TUBGCP3:NM_006322:exon22:c.T2682C:p.R894R |
|
13 |
113479813 |
1 |
ATP11A |
G |
A |
exonic |
synonymous SNV |
ATP11A:NM_015205:exon11:c.G942A:p.L314L,ATP11A:NM_032189:exon11:c.G942A:p.L314L |
|
13 |
113479820 |
1 |
ATP11A |
A |
G |
exonic |
nonsynonymous SNV |
ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V |
RS368865 |
Eye color:Stabilized warfarin
dose:Rheumatoid arthritis:Triglycerides change with statins:Total cholesterol
change with statins:Maternal transmission distortion:Transmission distortion |
|
13 |
113748913 |
1 |
MCF2L |
C |
T |
exonic |
synonymous SNV |
MCF2L:NM_001112732:exon27:c.C3039T:p.D1013D,MCF2L:NM_001320816:exon27:c.C3051T:p.D1017D,MCF2L:NM_024979:exon27:c.C3033T:p.D1011D,MCF2L:NM_001320815:exon28:c.C3108T:p.D1036D |
|
13 |
113801737 |
2 |
F10 |
C |
T |
exonic |
synonymous SNV |
F10:NM_001312674:exon6:c.C660T:p.T220T,F10:NM_000504:exon7:c.C792T:p.T264T,F10:NM_001312675:exon7:c.C792T:p.T264T |
RS5960 |
Prostate cancer:LDL
cholesterol:Simpson-Angus Scale:Serum creatinine:Adiponectin levels:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
13 |
113818900 |
2 |
PROZ |
A |
G |
exonic |
synonymous SNV |
PROZ:NM_003891:exon5:c.A447G:p.T149T,PROZ:NM_001256134:exon6:c.A513G:p.T171T |
|
13 |
113965176 |
2 |
LAMP1 |
C |
A |
exonic |
synonymous SNV |
LAMP1:NM_005561:exon4:c.C556A:p.R186R |
RS9577503 |
Cystatin C in serum |
|
13 |
113976709 |
1 |
LAMP1 |
G |
C |
exonic |
nonsynonymous SNV |
LAMP1:NM_005561:exon9:c.G1227C:p.R409S |
|
13 |
115002305 |
1 |
CDC16 |
G |
A |
exonic |
synonymous SNV |
CDC16:NM_001078645:exon3:c.G135A:p.Q45Q,CDC16:NM_001318517:exon3:c.G132A:p.Q44Q,CDC16:NM_001318518:exon3:c.G132A:p.Q44Q,CDC16:NM_001330101:exon3:c.G132A:p.Q44Q,CDC16:NM_003903:exon3:c.G135A:p.Q45Q |
|
13 |
115004914 |
2 |
CDC16 |
C |
T |
exonic |
synonymous SNV |
CDC16:NM_001330104:exon4:c.C48T:p.D16D,CDC16:NM_001330105:exon4:c.C48T:p.D16D,CDC16:NM_001078645:exon5:c.C330T:p.D110D,CDC16:NM_001318517:exon5:c.C327T:p.D109D,CDC16:NM_001318518:exon5:c.C327T:p.D109D,CDC16:NM_001330101:exon5:c.C327T:p.D109D,CDC16:NM_003903:exon5:c.C330T:p.D110D |
RS2296971 |
Gene expression of CDC16 in normal
prepouch ileum |
|
13 |
115004935 |
2 |
CDC16 |
T |
C |
exonic |
synonymous SNV |
CDC16:NM_001330104:exon4:c.T69C:p.P23P,CDC16:NM_001330105:exon4:c.T69C:p.P23P,CDC16:NM_001078645:exon5:c.T351C:p.P117P,CDC16:NM_001318517:exon5:c.T348C:p.P116P,CDC16:NM_001318518:exon5:c.T348C:p.P116P,CDC16:NM_001330101:exon5:c.T348C:p.P116P,CDC16:NM_003903:exon5:c.T351C:p.P117P |
RS2296970 |
Gene expression of UPF3A
(ENSG00000169062) in dendritic cells:Gene expression of CDC16 in normal
prepouch ileum |
|
14 |
20854734 |
2 |
TEP1 |
A |
G |
exonic |
synonymous SNV |
TEP1:NM_001319035:exon17:c.T2409C:p.H803H,TEP1:NM_007110:exon19:c.T2733C:p.H911H |
RS945011 |
Cystatin C in serum |
|
14 |
21993498 |
2 |
SALL2 |
G |
A |
exonic |
nonsynonymous SNV |
SALL2:NM_001291446:exon2:c.C364T:p.P122S,SALL2:NM_001291447:exon2:c.C358T:p.P120S,SALL2:NM_005407:exon2:c.C364T:p.P122S |
RS1263811 |
Partial epilepsy:Pulse rate:Gene
expression of CHD8 (ENSG00000100888) in dendritic cells |
|
14 |
23306048 |
2 |
MMP14 |
C |
T |
exonic |
nonsynonymous SNV |
MMP14:NM_004995:exon1:c.C22T:p.P8S |
RS1042703 |
Fasting blood glucose:HOMA-IR:Total
cholesterol change with statins:LDL cholesterol change with statins:Serum
creatinine:PROP taste detection threshold |
|
14 |
23549379 |
2 |
ACIN1 |
C |
G |
exonic |
nonsynonymous SNV |
ACIN1:NM_001164815:exon5:c.G1219C:p.A407P,ACIN1:NM_001164814:exon6:c.G1339C:p.A447P,ACIN1:NM_014977:exon6:c.G1339C:p.A447P |
|
14 |
23944505 |
2 |
NGDN |
G |
A |
exonic |
synonymous SNV |
NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V |
RS2236260 |
Total cholesterol:LDL
cholesterol:Salmonella-induced pyroptosis |
|
14 |
23944514 |
2 |
NGDN |
C |
A |
exonic |
synonymous SNV |
NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R |
|
14 |
24567498 |
2 |
PCK2 |
A |
C |
exonic |
nonsynonymous SNV |
PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P |
|
14 |
24614361 |
2 |
PSME2 |
T |
G |
exonic |
nonsynonymous SNV |
PSME2:NM_002818:exon6:c.A266C:p.H89P |
RS7146672 |
Gene expression of SLC22A16 in
peripheral blood monocytes |
|
14 |
24653523 |
2 |
IPO4 |
G |
C |
exonic |
nonsynonymous SNV |
IPO4:NM_024658:exon17:c.C1738G:p.P580A |
RS11550452 |
Cystatin C in serum |
|
14 |
24653954 |
2 |
IPO4 |
G |
A |
exonic |
nonsynonymous SNV |
IPO4:NM_024658:exon16:c.C1538T:p.A513V |
RS7146310 |
Differential exon level expression
of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Spatial working
memory strategy:Triglycerides change with statins:Triglycerides change with
statins:Autism:Autism with low IQ:Height:Neuroblastoma (brain cancer):Gene
expression of REC8 [transcript NM_001048205, probe A_24_P344087] in
liver:Gene expression of IRF9 in blood:Gene expression of REC8///IPO4 in
blood:Gene expression of TM9SF1 (probeID ILMN_2253300) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of TM9SF1 (probeID
ILMN_2253300) in temporal cortex in Alzheimer's disease cases and
controls:College completion:Years of education:Tetrology of fallot |
|
14 |
24654489 |
2 |
IPO4 |
T |
C |
exonic |
synonymous SNV |
IPO4:NM_024658:exon14:c.A1308G:p.V436V |
RS2025258 |
Differential exon level expression
of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Total
cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Birth
weight:Tetrology of fallot:College completion:Years of education |
|
14 |
24901276 |
2 |
KHNYN |
G |
T |
exonic |
nonsynonymous SNV |
KHNYN:NM_001290256:exon3:c.G932T:p.W311L,KHNYN:NM_001290257:exon3:c.G809T:p.W270L,KHNYN:NM_015299:exon3:c.G809T:p.W270L |
RS7151995 |
Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
14 |
24909362 |
2 |
SDR39U1 |
T |
C |
exonic |
nonsynonymous SNV |
SDR39U1:NM_001290292:exon5:c.A563G:p.Q188R,SDR39U1:NM_001290293:exon5:c.A485G:p.Q162R,SDR39U1:NM_001308075:exon5:c.A563G:p.Q188R,SDR39U1:NM_020195:exon6:c.A809G:p.Q270R |
RS1043831 |
Gene expression of probe 230017_at
in lymphoblastoid cell lines:Triglycerides:Systolic blood pressure
(SBP):Mitral annular calcium |
|
14 |
24909475 |
2 |
SDR39U1 |
C |
G |
exonic |
nonsynonymous SNV |
SDR39U1:NM_001290292:exon5:c.G450C:p.L150F,SDR39U1:NM_001290293:exon5:c.G372C:p.L124F,SDR39U1:NM_001308075:exon5:c.G450C:p.L150F,SDR39U1:NM_020195:exon6:c.G696C:p.L232F |
RS3211056 |
Gene expression of probe 230017_at
in lymphoblastoid cell lines:Advanced age-related macular degeneration:Mitral
annular calcium |
|
14 |
24910973 |
2 |
SDR39U1 |
T |
G |
exonic |
nonsynonymous SNV |
SDR39U1:NM_020195:exon4:c.A235C:p.I79L |
RS11625819 |
Gene expression of probe 230017_at
in lymphoblastoid cell lines:Schizophrenia:Differential exon level expression
of C14orf124 [probeset 3558301] in brain cortex:Differential exon level
expression of C14orf124 [probeset 3558301] in peripheral blood mononuclear
cells:Gene expression of C14orf124 [probe ILMN_4144] in
osteoblasts:Neuroblastoma (brain cancer):Gene expression of KIAA0323 in
blood:Gene expression of KIAA0323///C14orf124 in blood:Gene expression of
C14orf124 in blood:Gene expression of [probe 1410092 centered at
chr14:24043083] in blood:Mitral annular calcium:Advanced age-related macular
degeneration:Gene expression of SDR39U1 in normal prepouch ileum |
|
14 |
24910974 |
2 |
SDR39U1 |
T |
A |
exonic |
synonymous SNV |
SDR39U1:NM_020195:exon4:c.A234T:p.V78V |
|
14 |
31582380 |
2 |
HECTD1 |
A |
G |
exonic |
nonsynonymous SNV |
HECTD1:NM_015382:exon34:c.T6080C:p.L2027P |
|
14 |
31819047 |
2 |
HEATR5A |
C |
T |
exonic |
nonsynonymous SNV |
HEATR5A:NM_015473:exon18:c.G2656A:p.V886M |
RS3736918 |
Mitral annular calcium:College
completion |
|
14 |
31819913 |
2 |
HEATR5A |
A |
G |
exonic |
synonymous SNV |
HEATR5A:NM_015473:exon17:c.T2422C:p.L808L |
RS7158257 |
College completion:Mitral annular
calcium |
|
14 |
31864485 |
2 |
HEATR5A |
G |
C |
exonic |
nonsynonymous SNV |
HEATR5A:NM_015473:exon5:c.C517G:p.P173A |
|
14 |
34985645 |
2 |
EAPP |
G |
A |
exonic |
synonymous SNV |
EAPP:NM_018453:exon6:c.C729T:p.A243A |
RS7797 |
Gene expression of EAPP in
lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral
density (BMD):Rheumatoid arthritis:Differential exon level expression of EAPP
[probe 3560584] in peripheral blood mononuclear cells:Differential exon level
expression of EAPP [probe 3560579] in peripheral blood mononuclear
cells:Methylation levels at chr14:34079193-34079243 [hg18 coord, probe
cg24276491] in Cerebellum:Methylation levels at chr14:34169796-34169846 [hg18
coord, probe cg17346022] in Temporal cortex:Methylation levels at
chr14:34169796-34169846 [hg18 coord, probe cg17346022] in Frontal cortex:Gene
expression of C14orf11 [probe ILMN_1031] in untreated osteoblasts:Gene
expression of C14orf11 [probe ILMN_1031] in osteoblasts treated with dexamethasone:Gene
expression of EAPP in blood:Gene expression of [probe 2120500 centered at
chr14:34090490] in blood:Comorbid depressive syndrome and alcohol dependence |
|
14 |
35062312 |
2 |
SNX6 |
C |
T |
exonic |
synonymous SNV |
SNX6:NM_021249:exon7:c.G309A:p.E103E,SNX6:NM_152233:exon8:c.G693A:p.E231E |
RS12432539 |
Paternal transmission
distortion:Salmonella-induced pyroptosis |
|
14 |
36789729 |
2 |
MBIP |
T |
G |
exonic |
nonsynonymous SNV |
MBIP:NM_001144891:exon1:c.A66C:p.R22S,MBIP:NM_001308110:exon1:c.A66C:p.R22S,MBIP:NM_016586:exon1:c.A66C:p.R22S |
RS3168891 |
Triglycerides change with statins |
|
14 |
39650234 |
2 |
PNN |
A |
T |
exonic |
nonsynonymous SNV |
PNN:NM_002687:exon9:c.A1321T:p.T441S |
RS2180792 |
HDL cholesterol:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood
glucose:Triglycerides change with statins:Total cholesterol |
|
14 |
39736680 |
2 |
MIA2 |
T |
C |
exonic |
nonsynonymous SNV |
MIA2:NM_001247989:exon1:c.T17C:p.V6A,MIA2:NM_005930:exon1:c.T17C:p.V6A,MIA2:NM_203355:exon1:c.T17C:p.V6A |
RS7140561 |
Autism without verbal ability |
|
14 |
50251369 |
2 |
NEMF |
A |
G |
exonic |
synonymous SNV |
NEMF:NM_001301732:exon32:c.T3153C:p.N1051N,NEMF:NM_004713:exon33:c.T3216C:p.N1072N |
|
14 |
50583083 |
2 |
VCPKMT |
G |
T |
exonic |
nonsynonymous SNV |
VCPKMT:NM_001040662:exon1:c.C188A:p.A63D,VCPKMT:NM_024558:exon1:c.C188A:p.A63D |
|
14 |
50585248 |
2 |
SOS2 |
C |
T |
exonic |
synonymous SNV |
SOS2:NM_006939:exon23:c.G3813A:p.P1271P |
RS2227276 |
Psoriasis:Microalbuminuria:Variant
Creutzfeldt-Jakob disease:Gene expression of METTL21D in normal prepouch
ileum |
|
14 |
50769717 |
2 |
L2HGDH |
G |
A |
exonic |
synonymous SNV |
L2HGDH:NM_024884:exon2:c.C159T:p.I53I |
RS2297995 |
Methylation levels at
chr14:49849865-49849915 [hg18 coord, probe cg15996947] in Temporal
cortex:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of L2HGDH in normal
prepouch ileum:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal
cortex in Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
14 |
50788213 |
2 |
ATP5S |
C |
T |
exonic |
nonsynonymous SNV |
ATP5S:NM_001003803:exon2:c.C53T:p.P18L,ATP5S:NM_001003805:exon2:c.C53T:p.P18L,ATP5S:NM_015684:exon2:c.C53T:p.P18L |
RS2275592 |
HOMA-B:Gene expression of CDKL1
(probeID ILMN_1724183) in cerebellum in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of CDKL1 (probeID
ILMN_1724183) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of L2HGDH in normal prepouch ileum |
|
14 |
51057727 |
2 |
ATL1 |
G |
A |
exonic |
synonymous SNV |
ATL1:NM_015915:exon3:c.G351A:p.E117E,ATL1:NM_181598:exon3:c.G351A:p.E117E,ATL1:NM_001127713:exon4:c.G351A:p.E117E |
RS1060197 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Parkinson's disease |
|
14 |
51132024 |
2 |
SAV1 |
T |
C |
exonic |
synonymous SNV |
SAV1:NM_021818:exon2:c.A408G:p.S136S |
|
14 |
51239067 |
2 |
NIN |
C |
G |
exonic |
synonymous SNV |
NIN:NM_016350:exon9:c.G933C:p.L311L,NIN:NM_020921:exon9:c.G933C:p.L311L,NIN:NM_182944:exon9:c.G933C:p.L311L,NIN:NM_182946:exon9:c.G933C:p.L311L |
|
14 |
51383432 |
2 |
PYGL |
G |
A |
exonic |
synonymous SNV |
PYGL:NM_001163940:exon8:c.C918T:p.D306D,PYGL:NM_002863:exon9:c.C1020T:p.D340D |
RS2075643 |
Serum creatinine:Gene expression of
PYGL (ENSG00000100504) in dendritic cells |
|
14 |
52186972 |
2 |
FRMD6 |
A |
G |
exonic |
synonymous SNV |
FRMD6:NM_001267047:exon2:c.A150G:p.P50P,FRMD6:NM_001267046:exon11:c.A1224G:p.P408P,FRMD6:NM_152330:exon11:c.A1200G:p.P400P,FRMD6:NM_001042481:exon12:c.A1200G:p.P400P |
RS2277494 |
Total cholesterol:Gene expression
of FRMD6 (probeID ILMN_1769282) in temporal cortex in Alzheimer's disease
cases:Gene expression of FRMD6 (probeID ILMN_1769282) in temporal cortex in
non-Alzheimer's disease samples:Gene expression of FRMD6 (probeID ILMN_1769282)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
FRMD6 (probeID ILMN_1769282) in cerebellum in Alzheimer's disease cases:Gene
expression of FRMD6 (probeID ILMN_1769282) in cerebellum in non-Alzheimer's
disease samples:Gene expression of FRMD6 (probeID ILMN_1769282) in temporal
cortex in Alzheimer's disease cases and controls |
|
14 |
52906081 |
2 |
TXNDC16 |
T |
G |
exonic |
synonymous SNV |
TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R |
RS2249922 |
Barnes Akathisia Rating Scale:HDL
cholesterol:Serum creatinine:Lp-PLA2 activity:Gene expression of ERO1L in
peripheral blood monocytes:Triglycerides:Paternal transmission distortion |
|
14 |
52907353 |
2 |
TXNDC16 |
C |
T |
exonic |
synonymous SNV |
TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q |
RS1952254 |
HDL cholesterol:Serum
creatinine:Triglycerides |
|
14 |
53345378 |
2 |
FERMT2 |
G |
A |
exonic |
synonymous SNV |
FERMT2:NM_001134999:exon7:c.C885T:p.Y295Y,FERMT2:NM_001135000:exon7:c.C885T:p.Y295Y,FERMT2:NM_006832:exon7:c.C885T:p.Y295Y |
RS2357947 |
Major depressive
disorder:HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):Systolic blood
pressure (SBP):Bipolar disorder |
|
14 |
54417522 |
2 |
BMP4 |
A |
G |
exonic |
nonsynonymous SNV |
BMP4:NM_001347914:exon3:c.T455C:p.V152A,BMP4:NM_001347915:exon3:c.T266C:p.V89A,BMP4:NM_001202:exon4:c.T455C:p.V152A,BMP4:NM_001347912:exon4:c.T596C:p.V199A,BMP4:NM_001347913:exon4:c.T266C:p.V89A,BMP4:NM_001347916:exon4:c.T455C:p.V152A,BMP4:NM_001347917:exon4:c.T266C:p.V89A,BMP4:NM_130850:exon4:c.T455C:p.V152A,BMP4:NM_130851:exon4:c.T455C:p.V152A |
RS17563 |
Cystatin C in serum:Serum
creatinine:Gene expression of BMP4 in Cerebellum:Alcohol dependence
symptoms:Comorbid depressive syndrome and alcohol dependence:Gene expression
of MPP3 (probeID ILMN_1724754) in breast tumors:Myopia:Number of permanent
teeth between ages 6 and 14 years old |
|
14 |
55241810 |
2 |
SAMD4A |
G |
A |
exonic |
nonsynonymous SNV |
SAMD4A:NM_001161577:exon5:c.G647A:p.R216H,SAMD4A:NM_001161576:exon8:c.G1610A:p.R537H,SAMD4A:NM_015589:exon9:c.G1874A:p.R625H |
|
14 |
55604935 |
2 |
LGALS3 |
C |
A |
exonic |
nonsynonymous SNV |
LGALS3:NM_001177388:exon3:c.C191A:p.P64H,LGALS3:NM_002306:exon3:c.C191A:p.P64H |
RS4644 |
Circulating galectin-3
levels:LGALS3 gene expression levels:Advanced age-related macular
degeneration (geographic atrophy) |
|
14 |
55605036 |
2 |
LGALS3 |
A |
C |
exonic |
nonsynonymous SNV |
LGALS3:NM_001177388:exon3:c.A292C:p.T98P,LGALS3:NM_002306:exon3:c.A292C:p.T98P |
RS4652 |
Circulating galectin-3
levels:LGALS3 gene expression levels:Advanced age-related macular
degeneration (geographic atrophy) |
|
14 |
55817708 |
2 |
FBXO34 |
T |
C |
exonic |
synonymous SNV |
FBXO34:NM_017943:exon2:c.T600C:p.Y200Y,FBXO34:NM_152231:exon2:c.T600C:p.Y200Y |
RS10144418 |
Parkinson's disease:Advanced
age-related macular degeneration (geographic atrophy):Aortic valve
calcium:Circulating galectin-3 levels |
|
14 |
55818517 |
2 |
FBXO34 |
T |
A |
exonic |
nonsynonymous SNV |
FBXO34:NM_017943:exon2:c.T1409A:p.I470N,FBXO34:NM_152231:exon2:c.T1409A:p.I470N |
RS1045002 |
Circulating galectin-3
levels:Advanced age-related macular degeneration (geographic atrophy) |
|
14 |
55818706 |
2 |
FBXO34 |
T |
C |
exonic |
nonsynonymous SNV |
FBXO34:NM_017943:exon2:c.T1598C:p.L533P,FBXO34:NM_152231:exon2:c.T1598C:p.L533P |
RS3742569 |
Partial epilepsy:Gene expression of
LGALS3 in blood:Sporadic Creutzfeldt-Jakob disease:Circulating galectin-3
levels:Glioma:Gene expression of FBXO34 in normal prepouch ileum:Advanced
age-related macular degeneration (geographic atrophy) |
|
14 |
57052511 |
2 |
TMEM260 |
G |
T |
exonic |
synonymous SNV |
TMEM260:NM_017799:exon3:c.G225T:p.T75T |
|
14 |
57099859 |
2 |
TMEM260 |
G |
A |
exonic |
nonsynonymous SNV |
TMEM260:NM_017799:exon13:c.G1694A:p.S565N |
RS1041316 |
Schizophrenia:Body mass index
(BMI):PROP taste detection threshold |
|
14 |
58831142 |
2 |
ARID4A |
A |
G |
exonic |
nonsynonymous SNV |
ARID4A:NM_002892:exon20:c.A2335G:p.T779A,ARID4A:NM_023000:exon20:c.A2335G:p.T779A,ARID4A:NM_023001:exon20:c.A2335G:p.T779A |
RS1051858 |
Gene expression of ARID4A in
blood:Comorbid depressive syndrome and alcohol dependence |
|
14 |
58953746 |
2 |
KIAA0586 |
C |
G |
exonic |
nonsynonymous SNV |
KIAA0586:NM_001244193:exon19:c.C2746G:p.P916A,KIAA0586:NM_014749:exon21:c.C2938G:p.P980A,KIAA0586:NM_001244191:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329943:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329944:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329945:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329946:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329947:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001244190:exon23:c.C3121G:p.P1041A,KIAA0586:NM_001244192:exon23:c.C3034G:p.P1012A,KIAA0586:NM_001244189:exon24:c.C3325G:p.P1109A |
|
14 |
58955385 |
2 |
KIAA0586 |
C |
T |
exonic |
nonsynonymous SNV |
KIAA0586:NM_001244193:exon21:c.C3154T:p.P1052S,KIAA0586:NM_014749:exon23:c.C3346T:p.P1116S,KIAA0586:NM_001244191:exon24:c.C3319T:p.P1107S,KIAA0586:NM_001329943:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329944:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329945:exon24:c.C3319T:p.P1107S,KIAA0586:NM_001329946:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329947:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001244190:exon25:c.C3529T:p.P1177S,KIAA0586:NM_001244192:exon25:c.C3442T:p.P1148S,KIAA0586:NM_001244189:exon26:c.C3733T:p.P1245S |
|
14 |
59797235 |
2 |
DAAM1 |
A |
G |
exonic |
synonymous SNV |
DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q |
RS941884 |
Triglycerides:Triglycerides change
with statins:Total cholesterol:Height:Waist hip ratio |
|
14 |
59939727 |
2 |
L3HYPDH |
T |
C |
exonic |
nonsynonymous SNV |
L3HYPDH:NM_001331158:exon5:c.A508G:p.I170V,L3HYPDH:NM_001331159:exon5:c.A508G:p.I170V,L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V |
RS8660 |
Gene expression of C14orf149
[probe 3566949] in peripheral blood mononuclear cells:Gene expression of
C14orf100 probe [GI_21361536-S] in brain cortex with no Alzheimer's
interaction:Premature ovarian failure:Gene expression of UBTD2 in peripheral
blood monocytes:Gene expression of DAAM1 in blood:Variant Creutzfeldt-Jakob
disease:Parkinson's disease:Gene expression of C14orf149 (probeID
ILMN_2053281) in cerebellum in Alzheimer's disease cases:Gene expression of
C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease
cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID
ILMN_2053281) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
C14orf149 (probeID ILMN_2053281) in cerebellum in non-Alzheimer's disease
samples:Gene expression of GPR135 in normal prepouch ileum:Gene expression of
C14orf38 in normal prepouch ileum:Obsessive-compulsive disorder (OCD) |
|
14 |
59950676 |
2 |
L3HYPDH |
A |
C |
exonic |
nonsynonymous SNV |
L3HYPDH:NM_001331164:exon1:c.T359G:p.L120R,L3HYPDH:NM_144581:exon1:c.T359G:p.L120R |
|
14 |
59950690 |
2 |
L3HYPDH |
A |
C |
exonic |
synonymous SNV |
L3HYPDH:NM_001331164:exon1:c.T345G:p.A115A,L3HYPDH:NM_144581:exon1:c.T345G:p.A115A |
RS2296842 |
Gene expression of C14orf100 in
CEU-CHB-JPT lymphoblastoid cell lines:Height:Adiponectin levels |
|
14 |
60581863 |
2 |
PCNX4 |
G |
A |
exonic |
synonymous SNV |
PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P |
RS219314 |
Triglycerides change with
statins:Aortic valve calcium:Obesity with early age of onset (age >2):Gene
expression of DHRS7 in normal prepouch ileum |
|
14 |
60581935 |
2 |
PCNX4 |
C |
T |
exonic |
synonymous SNV |
PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S |
RS150687 |
Triglycerides change with
statins:PROP taste detection threshold:Aortic valve calcium:Obesity with
early age of onset (age >2):Gene expression of DHRS7 in normal prepouch
ileum |
|
14 |
60582053 |
2 |
PCNX4 |
G |
A |
exonic |
nonsynonymous SNV |
PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I |
RS150688 |
Triglycerides change with
statins:Gene expression of C14orf135 (ENSG00000126773) in dendritic
cells:Gene expression of DHRS7 in normal prepouch ileum |
|
14 |
61180657 |
2 |
SIX4 |
T |
G |
exonic |
nonsynonymous SNV |
SIX4:NM_017420:exon3:c.A1814C:p.H605P |
RS3742636 |
Total cholesterol change with
statins:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Birth
weight:Prostate cancer:Parkinson's disease:Prostate cancer (non-advanced
prostate cancer) |
|
14 |
61445967 |
2 |
TRMT5 |
A |
G |
exonic |
nonsynonymous SNV |
TRMT5:NM_001350253:exon2:c.T733C:p.S245P,TRMT5:NM_001350254:exon2:c.T730C:p.S244P,TRMT5:NM_020810:exon2:c.T649C:p.S217P |
|
14 |
61449328 |
2 |
SLC38A6 |
T |
A |
exonic |
nonsynonymous SNV |
SLC38A6:NM_001172702:exon2:c.T208A:p.L70M,SLC38A6:NM_153811:exon2:c.T208A:p.L70M |
RS976272 |
HDL cholesterol:Abnormal Involuntary
Movement Scale |
|
14 |
61509924 |
2 |
SLC38A6 |
T |
C |
exonic |
synonymous SNV |
SLC38A6:NM_001172702:exon9:c.T684C:p.G228G,SLC38A6:NM_153811:exon9:c.T684C:p.G228G |
RS2296921 |
Asthma |
|
14 |
66028446 |
2 |
FUT8 |
A |
G |
exonic |
synonymous SNV |
FUT8:NM_178156:exon2:c.A165G:p.Q55Q,FUT8:NM_178155:exon3:c.A165G:p.Q55Q |
RS2229677 |
Fasting insulin:HOMA-B:HDL
cholesterol:Gene expression of FUT8 in blood:Desialylated Glycan Peak
6:Desialylated Glycan Peak 1:Glycan Peak 10:Glycan Peak 10 in women:Mitral
annular calcium:IGP42:IGP2 |
|
14 |
68029313 |
2 |
PLEKHH1 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHH1:NM_020715:exon7:c.G965A:p.R322Q |
RS2236235 |
LDL
cholesterol:Triglycerides:Advanced age-related macular degeneration
(geographic atrophy) |
|
14 |
68257352 |
2 |
ZFYVE26 |
T |
A |
exonic |
nonsynonymous SNV |
ZFYVE26:NM_015346:exon15:c.A2692T:p.T898S |
RS17192170 |
LDL cholesterol:Barnes Akathisia
Rating Scale:Fasting blood glucose:HDL cholesterol |
|
14 |
68264867 |
2 |
ZFYVE26 |
A |
G |
exonic |
synonymous SNV |
ZFYVE26:NM_015346:exon11:c.T2112C:p.P704P |
RS12891164 |
HDL cholesterol:2 hour glucose:Total
cholesterol:Height |
|
14 |
69703158 |
2 |
EXD2 |
A |
G |
exonic |
synonymous SNV |
EXD2:NM_018199:exon6:c.A816G:p.L272L,EXD2:NM_001193361:exon7:c.A1191G:p.L397L,EXD2:NM_001193363:exon7:c.A1191G:p.L397L,EXD2:NM_001193360:exon8:c.A1191G:p.L397L,EXD2:NM_001193362:exon8:c.A1191G:p.L397L |
RS3211166 |
Gene expression of WDR22 [probe
1554558_at] in lymphoblastoid cell lines:Total cholesterol:Autism with high
IQ:Urinary albumin-to-creatinine ratio:College completion:Advanced
age-related macular degeneration:Years of education |
|
14 |
69704553 |
2 |
EXD2 |
G |
T |
exonic |
nonsynonymous SNV |
EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H |
RS8007859 |
Years of education:College
completion |
|
14 |
71109153 |
2 |
TTC9 |
C |
G |
exonic |
nonsynonymous SNV |
TTC9:NM_015351:exon1:c.C307G:p.P103A |
|
14 |
72117156 |
2 |
SIPA1L1 |
T |
C |
exonic |
synonymous SNV |
SIPA1L1:NM_001284247:exon4:c.T1923C:p.F641F,SIPA1L1:NM_001284245:exon5:c.T1923C:p.F641F,SIPA1L1:NM_001284246:exon5:c.T1923C:p.F641F,SIPA1L1:NM_015556:exon5:c.T1923C:p.F641F |
RS8017465 |
Spine bone mineral density
(BMD):Suicide attempts in bipolar disorder (females):Systolic blood pressure
(SBP):Diastolic blood pressure (DBP) |
|
14 |
73957772 |
2 |
RIOX1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
14 |
73958375 |
2 |
RIOX1 |
T |
C |
exonic |
unknown |
UNKNOWN |
RS758109 |
Chronic kidney
disease:Triglycerides:Gene expression of HEATR4 in normal prepouch
ileum:Years of education:Birth weight:College completion |
|
14 |
73958812 |
2 |
RIOX1 |
T |
C |
exonic |
unknown |
UNKNOWN |
RS3813563 |
Simpson-Angus Scale:Serum
creatinine:Height:Gene expression of C14orf169 [transcript NM_024644, probe
A_23_P163117] in liver:College completion:Years of education |
|
14 |
74196581 |
2 |
ELMSAN1 |
G |
A |
exonic |
synonymous SNV |
ELMSAN1:NM_001043318:exon4:c.C1857T:p.I619I,ELMSAN1:NM_194278:exon4:c.C1857T:p.I619I |
|
14 |
74206481 |
2 |
ELMSAN1 |
T |
C |
exonic |
synonymous SNV |
ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,ELMSAN1:NM_194278:exon2:c.A231G:p.V77V |
RS758774 |
PROP taste detection threshold |
|
14 |
75279395 |
2 |
YLPM1 |
T |
A |
exonic |
synonymous SNV |
YLPM1:NM_019589:exon11:c.T5412A:p.P1804P |
RS2302834 |
Triglycerides:Lung function, ratio
of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):HOMA-IR:Triglycerides:Height:Parkinson's disease |
|
14 |
75483812 |
2 |
MLH3 |
T |
C |
exonic |
synonymous SNV |
MLH3:NM_014381:exon12:c.A4263G:p.Q1421Q,MLH3:NM_001040108:exon13:c.A4335G:p.Q1445Q |
RS13712 |
Gene expression of MLH3 [probe
204838_s_at] in lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Total
cholesterol change with statins:Height:Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration:Gene expression
of MLH3 (probeID ILMN_1693107) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of EIF2B2 (ENSG00000119718) in dendritic cells:Gene
expression of MLH3 (probeID ILMN_1693107) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of RPS6KL1 (ENSG00000198208) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression
change of RPS6KL1 (ENSG00000198208) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of MLH3 (probeID ILMN_2282282) in
cerebellum in Alzheimer's disease cases and controls:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Years of
education:Gene expression of MLH3 (probeID ILMN_2282282) in temporal cortex
in Alzheimer's disease cases and controls:Parkinson's disease |
|
14 |
75513883 |
2 |
MLH3 |
T |
C |
exonic |
nonsynonymous SNV |
MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D |
|
14 |
75537381 |
2 |
ZC2HC1C |
C |
T |
exonic |
synonymous SNV |
ZC2HC1C:NM_001042430:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_001330191:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_024643:exon2:c.C105T:p.Y35Y |
|
14 |
75538217 |
2 |
ZC2HC1C |
G |
T |
exonic |
nonsynonymous SNV |
ZC2HC1C:NM_001330191:exon2:c.G941T:p.G314V,ZC2HC1C:NM_024643:exon2:c.G941T:p.G314V |
RS3742778 |
Gene expression of MLH3 [probe
204838_s_at] in lymphoblastoid cell lines:Neuroticism:Total cholesterol
change with statins:Lp-PLA2 mass:Gene expression of EIF2B2 in peripheral
blood monocytes:Gene expression of MLH3 in peripheral blood
monocytes:Height:Comorbid depressive syndrome and alcohol dependence:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Years of education:Decrease in FEV1 (in nonasthmatic
participants):Parkinson's disease:Advanced age-related macular degeneration |
|
14 |
75574087 |
2 |
NEK9 |
C |
T |
exonic |
nonsynonymous SNV |
NEK9:NM_001329237:exon11:c.G1286A:p.R429H,NEK9:NM_001329238:exon11:c.G932A:p.R311H,NEK9:NM_033116:exon11:c.G1286A:p.R429H |
RS10146482 |
Gene expression of MLH3 [probe
204838_s_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Gene expression of Contig35424_RC in liver:Gene expression of EIF2B2 in
blood cells in Celiac disease:Gene expression of EIF2B2 [probe 3544387] in peripheral
blood mononuclear cells:Gene expression of EIF2B2 [probe ILMN_21744] in
osteoblasts:Total cholesterol change with statins:Lp-PLA2 mass:Gene
expression of MLH3 in peripheral blood monocytes:Gene expression of EIF2B2 in
peripheral blood monocytes:Gene expression of ACYP1 in CD4+
lymphocytes:Height:Gene expression of EIF2B2 in blood:Gene expression of MLH3
in blood:Gene expression of ACYP1 in blood:Comorbid depressive syndrome and
alcohol dependence:Hypertension (early onset hypertension):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Parkinson's disease:Maternal transmission distortion:Transmission
distortion:Advanced age-related macular degeneration:Years of education |
|
14 |
75590822 |
2 |
NEK9 |
G |
A |
exonic |
synonymous SNV |
NEK9:NM_001329237:exon2:c.C324T:p.H108H,NEK9:NM_033116:exon2:c.C324T:p.H108H |
RS8017642 |
Total cholesterol change with
statins:Height:Years of education:Parkinson's disease:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
14 |
76045362 |
2 |
FLVCR2 |
T |
C |
exonic |
nonsynonymous SNV |
FLVCR2:NM_017791:exon1:c.T47C:p.V16A |
RS2287015 |
Gene expression of FLVCR2 in blood |
|
14 |
76045858 |
2 |
FLVCR2 |
G |
A |
exonic |
synonymous SNV |
FLVCR2:NM_017791:exon1:c.G543A:p.V181V |
RS2287016 |
C5-M-DC:C5-M-DC / C18:1-OH:Gene
expression of FLVCR2 in peripheral blood monocytes |
|
14 |
77493647 |
2 |
IRF2BPL |
A |
G |
exonic |
synonymous SNV |
IRF2BPL:NM_024496:exon1:c.T489C:p.A163A |
|
14 |
77751925 |
2 |
POMT2 |
C |
T |
exonic |
synonymous SNV |
POMT2:NM_013382:exon13:c.G1383A:p.R461R |
RS2270419 |
Fasting blood glucose:Obesity with
early age of onset (age >2) |
|
14 |
77793207 |
2 |
GSTZ1 |
G |
A |
exonic |
nonsynonymous SNV |
GSTZ1:NM_145870:exon3:c.G94A:p.E32K,GSTZ1:NM_145871:exon3:c.G94A:p.E32K |
|
14 |
77794283 |
2 |
GSTZ1 |
T |
C |
exonic |
nonsynonymous SNV |
GSTZ1:NM_145870:exon5:c.T245C:p.M82T,GSTZ1:NM_001312660:exon6:c.T80C:p.M27T |
RS1046428 |
Irritible bowel syndrome:Gene
expression of C14orf174 in CD4+ lymphocytes:Gene expression of C14orf133 in
blood:Variant Creutzfeldt-Jakob disease |
|
14 |
77926011 |
2 |
AHSA1 |
C |
T |
exonic |
synonymous SNV |
AHSA1:NM_012111:exon2:c.C133T:p.L45L |
RS1061629 |
Total cholesterol:Triglycerides:HDL
cholesterol:College completion:Gene expression of C14orf174 (ENSG00000100583)
in dendritic cells treated with Mycobacterium tuberculosis |
|
14 |
77928525 |
2 |
AHSA1 |
A |
G |
exonic |
synonymous SNV |
AHSA1:NM_012111:exon3:c.A294G:p.Q98Q |
RS1061638 |
Gene expression of TMED8 [probe
3573029] in peripheral blood mononuclear cells:Total cholesterol:Gene
expression of C14orf133 in blood:Years of education |
|
14 |
77935520 |
2 |
AHSA1 |
G |
A |
exonic |
synonymous SNV |
AHSA1:NM_001321441:exon9:c.G540A:p.T180T,AHSA1:NM_012111:exon9:c.G945A:p.T315T |
RS7250 |
Total
cholesterol:Triglycerides:College completion |
|
14 |
77951124 |
2 |
ISM2 |
C |
T |
exonic |
nonsynonymous SNV |
ISM2:NM_182509:exon2:c.G280A:p.A94T,ISM2:NM_199296:exon2:c.G280A:p.A94T |
RS3742728 |
Spine bone mineral density
(BMD):Alzheimer's disease:HOMA-IR:Fasting blood glucose:Waist hip ratio:Gene
expression of SPTLC2 in blood |
|
14 |
78028803 |
2 |
SPTLC2 |
A |
G |
exonic |
synonymous SNV |
SPTLC2:NM_004863:exon6:c.T786C:p.N262N |
RS2364602 |
Gene expression of GSTZ1 in blood |
|
14 |
78174473 |
2 |
SLIRP |
A |
C |
exonic |
synonymous SNV |
SLIRP:NM_001267863:exon1:c.A19C:p.R7R,SLIRP:NM_001267864:exon1:c.A19C:p.R7R,SLIRP:NM_031210:exon1:c.A19C:p.R7R |
RS11159286 |
Chronic kidney disease:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
14 |
90730071 |
2 |
PSMC1 |
C |
T |
exonic |
synonymous SNV |
PSMC1:NM_002802:exon5:c.C345T:p.I115I,PSMC1:NM_001330212:exon6:c.C126T:p.I42I |
|
14 |
91739081 |
2 |
CCDC88C |
A |
G |
exonic |
nonsynonymous SNV |
CCDC88C:NM_001080414:exon30:c.T5975C:p.L1992P |
RS941920 |
Chemosensitivity to targeted
regimes in metastatic colorectal cancer
(Bevacizumab+5-FU/leucovorin+oxaliplatin regime):Urinary
albumin-to-creatinine ratio:Resistance to kuru in aged women despite likely
exposure:Sporadic Creutzfeldt-Jakob disease:Paternal transmission distortion |
|
14 |
93118038 |
2 |
RIN3 |
A |
G |
exonic |
nonsynonymous SNV |
RIN3:NM_001319987:exon5:c.A419G:p.H140R,RIN3:NM_024832:exon6:c.A644G:p.H215R |
RS3829947 |
LDL cholesterol:HDL cholesterol
change with statins:Chronic kidney disease:Aortic valve calcium |
|
14 |
93178191 |
2 |
LGMN |
A |
G |
exonic |
synonymous SNV |
LGMN:NM_005606:exon9:c.T720C:p.D240D,LGMN:NM_001008530:exon10:c.T720C:p.D240D |
|
14 |
93276654 |
2 |
GOLGA5 |
T |
C |
exonic |
nonsynonymous SNV |
GOLGA5:NM_005113:exon5:c.T1048C:p.F350L |
RS1040835 |
HDL cholesterol:Waist hip ratio |
|
14 |
94524216 |
2 |
DDX24 |
T |
C |
exonic |
synonymous SNV |
DDX24:NM_020414:exon6:c.A1941G:p.A647A |
|
14 |
94756794 |
2 |
SERPINA10 |
T |
C |
exonic |
nonsynonymous SNV |
SERPINA10:NM_001100607:exon2:c.A137G:p.K46R,SERPINA10:NM_016186:exon2:c.A137G:p.K46R |
RS941590 |
Cystatin C in serum:Mitral annular
calcium:College completion:Years of education |
|
14 |
94776221 |
2 |
SERPINA6 |
A |
C |
exonic |
nonsynonymous SNV |
SERPINA6:NM_001756:exon3:c.T736G:p.S246A |
|
14 |
94912799 |
2 |
SERPINA11 |
G |
A |
exonic |
synonymous SNV |
SERPINA11:NM_001080451:exon3:c.C786T:p.T262T |
|
14 |
94912896 |
2 |
SERPINA11 |
T |
G |
exonic |
nonsynonymous SNV |
SERPINA11:NM_001080451:exon3:c.A689C:p.E230A |
RS1885137 |
Longstanding arthritis |
|
14 |
95029852 |
2 |
SERPINA4 |
G |
T |
exonic |
synonymous SNV |
SERPINA4:NM_001289032:exon2:c.G144T:p.L48L,SERPINA4:NM_001289033:exon2:c.G33T:p.L11L,SERPINA4:NM_006215:exon2:c.G33T:p.L11L |
|
14 |
95906321 |
2 |
SYNE3 |
G |
A |
exonic |
nonsynonymous SNV |
SYNE3:NM_152592:exon11:c.C2003T:p.T668M |
RS9671369 |
Height:Resistance to kuru in aged
women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Gene
expression of C14orf49 (ENSG00000176438) in dendritic cells treated with
Mycobacterium tuberculosis |
|
14 |
96010424 |
2 |
GLRX5 |
G |
A |
exonic |
nonsynonymous SNV |
GLRX5:NM_016417:exon2:c.G436A:p.A146T |
|
14 |
100759046 |
2 |
SLC25A29 |
C |
A |
exonic |
synonymous SNV |
SLC25A29:NM_152333:exon3:c.G288T:p.T96T,SLC25A29:NM_001039355:exon4:c.G486T:p.T162T,SLC25A29:NM_001291813:exon5:c.G288T:p.T96T,SLC25A29:NM_001291814:exon5:c.G288T:p.T96T |
|
14 |
100759277 |
2 |
SLC25A29 |
C |
T |
exonic |
synonymous SNV |
SLC25A29:NM_152333:exon3:c.G57A:p.R19R,SLC25A29:NM_001039355:exon4:c.G255A:p.R85R,SLC25A29:NM_001291813:exon5:c.G57A:p.R19R,SLC25A29:NM_001291814:exon5:c.G57A:p.R19R |
|
14 |
100808845 |
2 |
WARS |
G |
A |
exonic |
synonymous SNV |
WARS:NM_213645:exon8:c.C880T:p.L294L,WARS:NM_213646:exon8:c.C880T:p.L294L,WARS:NM_004184:exon9:c.C1003T:p.L335L,WARS:NM_173701:exon9:c.C1003T:p.L335L |
RS9453 |
Triglycerides:Fasting blood
glucose:Triglycerides:HDL cholesterol:Gene expression of WARS (probeID
ILMN_1727271) in whole blood:Coronary artery disease (CAD):Gene expression of
WDR25 in normal prepouch ileum |
|
14 |
100847523 |
2 |
WDR25 |
T |
C |
exonic |
nonsynonymous SNV |
WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R |
|
14 |
100996312 |
2 |
WDR25 |
T |
C |
exonic |
synonymous SNV |
WDR25:NM_001350950:exon6:c.T795C:p.Y265Y,WDR25:NM_001161476:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350947:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350948:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350949:exon7:c.T819C:p.Y273Y,WDR25:NM_024515:exon7:c.T1569C:p.Y523Y |
|
14 |
101198417 |
2 |
DLK1 |
A |
G |
exonic |
nonsynonymous SNV |
DLK1:NM_001317172:exon4:c.A301G:p.R101G,DLK1:NM_003836:exon4:c.A301G:p.R101G |
|
14 |
102463407 |
2 |
DYNC1H1 |
A |
G |
exonic |
synonymous SNV |
DYNC1H1:NM_001376:exon16:c.A3600G:p.Q1200Q |
|
14 |
102493761 |
2 |
DYNC1H1 |
A |
G |
exonic |
synonymous SNV |
DYNC1H1:NM_001376:exon46:c.A8928G:p.L2976L |
RS8010870 |
LDL cholesterol:2 hour glucose:Body
mass index (BMI) |
|
14 |
102504838 |
2 |
DYNC1H1 |
C |
T |
exonic |
synonymous SNV |
DYNC1H1:NM_001376:exon58:c.C10950T:p.N3650N |
|
14 |
102514227 |
2 |
DYNC1H1 |
T |
C |
exonic |
synonymous SNV |
DYNC1H1:NM_001376:exon73:c.T13080C:p.T4360T |
RS13749 |
Total cholesterol change with
statins:Gene expression of HSP90AA1 in blood:Gene expression of WDR20 in
blood:Sporadic Creutzfeldt-Jakob disease |
|
14 |
102675350 |
2 |
WDR20 |
G |
C |
exonic |
synonymous SNV |
WDR20:NM_001242416:exon2:c.G660C:p.G220G,WDR20:NM_181308:exon2:c.G660C:p.G220G,WDR20:NM_001242418:exon3:c.G879C:p.G293G,WDR20:NM_144574:exon3:c.G843C:p.G281G,WDR20:NM_181291:exon3:c.G843C:p.G281G,WDR20:NM_001242417:exon4:c.G936C:p.G312G,WDR20:NM_001330228:exon4:c.G936C:p.G312G |
RS6575900 |
LDL cholesterol:2 hour
glucose:Infant head circumference |
|
14 |
102792386 |
2 |
ZNF839 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF839:NM_001267827:exon2:c.T5C:p.L2P,ZNF839:NM_001267828:exon2:c.T5C:p.L2P,ZNF839:NM_018335:exon2:c.T353C:p.L118P |
RS7158731 |
HDL cholesterol:Premature ovarian
failure:2 hour glucose:Fasting blood glucose:Serum creatinine:Total
cholesterol change with statins:Amyotrophic lateral sclerosis
(ALS):Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Gene
expression of HSP90AA1 in blood:Gene expression of ANKRD9 in blood:Gene
expression of ZNF839 in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease |
|
14 |
102792631 |
2 |
ZNF839 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF839:NM_001267827:exon2:c.G250A:p.D84N,ZNF839:NM_001267828:exon2:c.G250A:p.D84N,ZNF839:NM_018335:exon2:c.G598A:p.D200N |
RS7158139 |
2 hour glucose:Fasting blood
glucose:Total cholesterol change with statins:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Bipolar disorder |
|
14 |
103566785 |
2 |
EXOC3L4 |
C |
T |
exonic |
nonsynonymous SNV |
EXOC3L4:NM_001077594:exon1:c.C229T:p.R77W |
RS2297067 |
LDL cholesterol:Fasting blood
glucose:Total cholesterol:Gene expression of ZNF702 in peripheral blood
monocytes:Waist hip ratio:Primary biliary cirrhosis:Gamma-glutamyl
transferase (GGT):Serum gamma-glutamyl transferase (GGT) activity (in
adults):Serum gamma-glutamyl transferase (GGT) activity (in
adolescents):Platelet count (PLT) |
|
14 |
103566835 |
2 |
EXOC3L4 |
C |
G |
exonic |
nonsynonymous SNV |
EXOC3L4:NM_001077594:exon1:c.C279G:p.D93E |
|
14 |
103568614 |
2 |
EXOC3L4 |
T |
A |
exonic |
nonsynonymous SNV |
EXOC3L4:NM_001077594:exon2:c.T554A:p.L185H |
RS10131298 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gamma-glutamyl transferase (GGT):Serum
gamma-glutamyl transferase (GGT) activity (in adults):Serum gamma-glutamyl
transferase (GGT) activity (in adolescents) |
|
14 |
103568729 |
2 |
EXOC3L4 |
A |
G |
exonic |
synonymous SNV |
EXOC3L4:NM_001077594:exon2:c.A669G:p.E223E |
|
14 |
103568981 |
2 |
EXOC3L4 |
A |
C |
exonic |
synonymous SNV |
EXOC3L4:NM_001077594:exon2:c.A921C:p.P307P |
|
14 |
103576415 |
2 |
EXOC3L4 |
A |
G |
exonic |
nonsynonymous SNV |
EXOC3L4:NM_001077594:exon11:c.A2024G:p.Q675R |
RS729184 |
Gene expression change of C14orf73
(ENSG00000205436) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
14 |
103934488 |
2 |
MARK3 |
T |
C |
exonic |
nonsynonymous SNV |
MARK3:NM_001128921:exon11:c.T992C:p.F331S,MARK3:NM_001128918:exon12:c.T1229C:p.F410S,MARK3:NM_001128919:exon12:c.T1229C:p.F410S,MARK3:NM_001128920:exon12:c.T1181C:p.F394S,MARK3:NM_002376:exon12:c.T1229C:p.F410S |
|
14 |
103996396 |
2 |
TRMT61A |
G |
A |
exonic |
synonymous SNV |
TRMT61A:NM_152307:exon2:c.G81A:p.A27A |
|
14 |
105167807 |
2 |
INF2 |
C |
T |
exonic |
synonymous SNV |
INF2:NM_001031714:exon2:c.C105T:p.P35P,INF2:NM_022489:exon2:c.C105T:p.P35P,INF2:NM_032714:exon2:c.C105T:p.P35P |
|
14 |
105179194 |
2 |
INF2 |
T |
C |
exonic |
synonymous SNV |
INF2:NM_001031714:exon18:c.T2640C:p.D880D,INF2:NM_022489:exon18:c.T2640C:p.D880D |
RS10133301 |
HDL cholesterol change with statins |
|
14 |
105180565 |
2 |
INF2 |
T |
C |
exonic |
synonymous SNV |
INF2:NM_001031714:exon21:c.T3066C:p.D1022D,INF2:NM_022489:exon21:c.T3066C:p.D1022D |
|
14 |
105268228 |
2 |
ZBTB42 |
G |
A |
exonic |
nonsynonymous SNV |
ZBTB42:NM_001137601:exon1:c.G694A:p.E232K |
RS4983387 |
Stabilized warfarin dose:Childhood
acute lymphoblastic leukemia:HDL cholesterol:Alcohol consumption:Obesity with
early age of onset (age >2):Refractive error |
|
14 |
105355949 |
2 |
CEP170B |
C |
G |
exonic |
synonymous SNV |
CEP170B:NM_015005:exon12:c.C3627G:p.T1209T |
|
14 |
105916420 |
2 |
MTA1 |
C |
T |
exonic |
synonymous SNV |
MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N |
RS4983409 |
Urinary albumin-to-creatinine ratio |
|
15 |
20071046 |
2 |
|
15 |
21154466 |
2 |
|
15 |
22925851 |
1 |
CYFIP1 |
C |
T |
exonic |
synonymous SNV |
CYFIP1:NM_001324119:exon2:c.C171T:p.P57P,CYFIP1:NM_001324120:exon2:c.C69T:p.P23P,CYFIP1:NM_001324123:exon2:c.C69T:p.P23P,CYFIP1:NM_001324124:exon2:c.C69T:p.P23P,CYFIP1:NM_001324126:exon2:c.C69T:p.P23P,CYFIP1:NM_014608:exon2:c.C69T:p.P23P,CYFIP1:NM_001287810:exon3:c.C69T:p.P23P |
|
15 |
22939192 |
1 |
CYFIP1 |
G |
A |
exonic |
synonymous SNV |
CYFIP1:NM_001324125:exon7:c.G552A:p.P184P,CYFIP1:NM_001324124:exon9:c.G828A:p.P276P,CYFIP1:NM_001324126:exon9:c.G816A:p.P272P,CYFIP1:NM_001324119:exon10:c.G1020A:p.P340P,CYFIP1:NM_001324120:exon10:c.G918A:p.P306P,CYFIP1:NM_001324123:exon10:c.G918A:p.P306P,CYFIP1:NM_014608:exon10:c.G918A:p.P306P,CYFIP1:NM_001287810:exon11:c.G918A:p.P306P |
|
15 |
22960868 |
1 |
CYFIP1 |
G |
C |
exonic |
synonymous SNV |
CYFIP1:NM_001033028:exon3:c.G768C:p.L256L,CYFIP1:NM_001324125:exon15:c.G1695C:p.L565L,CYFIP1:NM_001324124:exon17:c.G1971C:p.L657L,CYFIP1:NM_001324126:exon17:c.G1959C:p.L653L,CYFIP1:NM_001324119:exon18:c.G2163C:p.L721L,CYFIP1:NM_001324120:exon18:c.G2061C:p.L687L,CYFIP1:NM_001324123:exon18:c.G2061C:p.L687L,CYFIP1:NM_014608:exon18:c.G2061C:p.L687L,CYFIP1:NM_001287810:exon19:c.G2061C:p.L687L,CYFIP1:NM_001324122:exon19:c.G381C:p.L127L |
RS2289818 |
2 hour glucose:Total cholesterol |
|
15 |
23052632 |
2 |
NIPA1 |
T |
C |
exonic |
synonymous SNV |
NIPA1:NM_001142275:exon4:c.A216G:p.T72T,NIPA1:NM_144599:exon4:c.A441G:p.T147T |
RS11263683 |
Waist hip ratio:Gene expression of
NIPA1 [transcript NM_144599, probe A_23_P359131] in liver |
|
15 |
25925094 |
2 |
ATP10A |
C |
G |
exonic |
nonsynonymous SNV |
ATP10A:NM_024490:exon21:c.G3894C:p.R1298S |
RS3816800 |
Multiple sclerosis:Lp-PLA2
mass:Parkinson's disease |
|
15 |
25961964 |
2 |
ATP10A |
A |
G |
exonic |
synonymous SNV |
ATP10A:NM_024490:exon9:c.T1689C:p.P563P |
|
15 |
28421681 |
1 |
HERC2 |
A |
G |
exonic |
synonymous SNV |
HERC2:NM_004667:exon63:c.T9579C:p.C3193C |
|
15 |
28421707 |
1 |
HERC2 |
G |
A |
exonic |
synonymous SNV |
HERC2:NM_004667:exon63:c.C9553T:p.L3185L |
|
15 |
30008856 |
2 |
TJP1 |
C |
A |
exonic |
synonymous SNV |
TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_001301026:exon23:c.G3933T:p.A1311A,TJP1:NM_001330239:exon23:c.G4161T:p.A1387A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A,TJP1:NM_001301025:exon24:c.G4362T:p.A1454A |
|
15 |
30008889 |
1 |
TJP1 |
G |
A |
exonic |
synonymous SNV |
TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_001301026:exon23:c.C3900T:p.A1300A,TJP1:NM_001330239:exon23:c.C4128T:p.A1376A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A,TJP1:NM_001301025:exon24:c.C4329T:p.A1443A |
RS2229518 |
Serum creatinine:HDL
cholesterol:Triglycerides:Refractive error |
|
15 |
34528948 |
2 |
SLC12A6 |
G |
A |
exonic |
synonymous SNV |
SLC12A6:NM_001042497:exon21:c.C2958T:p.L986L,SLC12A6:NM_005135:exon22:c.C2850T:p.L950L,SLC12A6:NM_133647:exon22:c.C3003T:p.L1001L,SLC12A6:NM_001042494:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042495:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042496:exon23:c.C2976T:p.L992L |
RS4577050 |
Gene expression of C15orf29 [probe
232094_at] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Triglycerides
change with statins:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
15 |
34673722 |
1 |
GOLGA8A |
C |
T |
exonic |
nonsynonymous SNV |
GOLGA8A:NM_181077:exon16:c.G1702A:p.V568I |
|
15 |
35149008 |
2 |
AQR |
C |
T |
exonic |
synonymous SNV |
AQR:NM_014691:exon35:c.G4443A:p.P1481P |
|
15 |
35198879 |
1 |
AQR |
G |
A |
exonic |
synonymous SNV |
AQR:NM_014691:exon18:c.C1698T:p.T566T |
|
15 |
35273620 |
1 |
ZNF770 |
C |
T |
exonic |
synonymous SNV |
ZNF770:NM_014106:exon3:c.G2016A:p.Q672Q |
|
15 |
38643574 |
2 |
SPRED1 |
T |
C |
exonic |
synonymous SNV |
SPRED1:NM_152594:exon7:c.T1044C:p.V348V |
RS3751526 |
Fasting insulin:HOMA-IR:HDL
cholesterol:Paternal transmission distortion:Hypertension (early onset
hypertension):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
15 |
40226495 |
2 |
EIF2AK4 |
T |
C |
exonic |
synonymous SNV |
EIF2AK4:NM_001013703:exon1:c.T99C:p.I33I |
RS566792 |
Ischemic stroke:2 hour
glucose:Fasting blood glucose:HDL cholesterol:Total cholesterol:Serum
creatinine |
|
15 |
40313141 |
1 |
EIF2AK4 |
C |
T |
exonic |
synonymous SNV |
EIF2AK4:NM_001013703:exon31:c.C4215T:p.G1405G |
RS3207297 |
Gene expression of EIF2AK4 [probe
237145_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Longstanding
arthritis:Arthritis including non-Rheumatoid:HOMA-IR:Fasting blood
glucose:Fasting insulin |
|
15 |
40328575 |
2 |
SRP14 |
G |
C |
exonic |
nonsynonymous SNV |
SRP14:NM_003134:exon5:c.C370G:p.P124A,SRP14:NM_001309434:exon6:c.C226G:p.P76A |
RS7535 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(geographic atrophy) |
|
15 |
40328665 |
1 |
SRP14 |
G |
A |
exonic |
synonymous SNV |
SRP14:NM_003134:exon5:c.C280T:p.L94L,SRP14:NM_001309434:exon6:c.C136T:p.L46L |
|
15 |
40330564 |
2 |
SRP14 |
C |
T |
exonic |
synonymous SNV |
SRP14:NM_003134:exon3:c.G129A:p.K43K |
|
15 |
40477831 |
1 |
BUB1B |
G |
A |
exonic |
nonsynonymous SNV |
BUB1B:NM_001211:exon8:c.G1046A:p.R349Q |
RS1801376 |
Arthritis including
non-Rheumatoid:2 hour glucose:Plasma aldosterone concentration corrected by
plasma renin activity:Resistance to kuru in aged women despite likely
exposure:Gene expression change of PAK6 (ENSG00000137843) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of PAK6
(ENSG00000137843) in dendritic cells |
|
15 |
40488851 |
1 |
BUB1B |
G |
A |
exonic |
synonymous SNV |
BUB1B:NM_001211:exon9:c.G1164A:p.A388A |
RS1047130 |
Triglycerides change with
statins:Microalbuminuria:Aortic valve calcium:Advanced age-related macular
degeneration (geographic atrophy) |
|
15 |
40751555 |
2 |
BAHD1 |
C |
A |
exonic |
nonsynonymous SNV |
BAHD1:NM_001301132:exon2:c.C892A:p.Q298K,BAHD1:NM_014952:exon2:c.C892A:p.Q298K |
RS3803357 |
Gene expression of C15orf57 [probe
1560814_a_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe
225397_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Longstanding arthritis:Total cholesterol change with
statins:Triglycerides:HDL cholesterol:Gene expression of BAHD1 [transcript
NM_014952, probe A_23_P117928] in liver:Gene expression of RPUSD2 [transcript
NM_152260, probe A_23_P309850] in liver:Gene expression of IVD in blood:Gene
expression of C15orf57 in blood:Gene expression of [probe 1340431 centered at
chr15:38611495] in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression
of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum
in non-Alzheimer's disease samples:Gene expression of MRPL42P5 (probeID
ILMN_2042343) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of C15orf57 (probeID
ILMN_2413318) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's
disease cases:Gene expression of C15orf57 in normal prepouch ileum:Gene
expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's
disease cases:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal
cortex in Alzheimer's disease cases:Gene expression of C15orf57 (probeID ILMN_2413318)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of C15orf57 (probeID ILMN_2413318)
in cerebellum in non-Alzheimer's disease samples:Gene expression of C15orf57
(probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of C15orf57 (probeID
ILMN_2413318) in temporal cortex in Alzheimer's disease cases |
|
15 |
41105926 |
2 |
ZFYVE19 |
T |
G |
exonic |
nonsynonymous SNV |
ZFYVE19:NM_001258420:exon8:c.T922G:p.S308A,ZFYVE19:NM_001077268:exon9:c.T1126G:p.S376A,ZFYVE19:NM_001258421:exon9:c.T601G:p.S201A,ZFYVE19:NM_032850:exon10:c.T1096G:p.S366A |
RS690347 |
Gene expression of RAD51 [probe
3590086] in brain cortex:Differential exon level expression of ZFYVE19 [probe
3590153] in peripheral blood mononuclear cells:Gene expression of CHAC1
[transcript NM_024111, probe A_23_P14863] in liver:Gene expression of ZFYVE19
in blood:Gene expression of C15orf57 in normal prepouch ileum |
|
15 |
41148199 |
2 |
SPINT1 |
C |
T |
exonic |
synonymous SNV |
SPINT1:NM_001032367:exon8:c.C1227T:p.Y409Y,SPINT1:NM_003710:exon9:c.C1227T:p.Y409Y,SPINT1:NM_181642:exon9:c.C1275T:p.Y425Y |
RS659232 |
Abnormal Involuntary Movement
Scale:Gene expression of SPINT1 in peripheral blood monocytes:LDL
cholesterol:Microalbuminuria:Gene expression of C15orf57 in normal prepouch
ileum |
|
15 |
41149161 |
2 |
SPINT1 |
G |
C |
exonic |
synonymous SNV |
SPINT1:NM_001032367:exon10:c.G1530C:p.T510T,SPINT1:NM_003710:exon11:c.G1530C:p.T510T,SPINT1:NM_181642:exon11:c.G1578C:p.T526T |
RS690458 |
LDL cholesterol:Microalbuminuria |
|
15 |
41813279 |
1 |
RPAP1 |
C |
T |
exonic |
synonymous SNV |
RPAP1:NM_015540:exon22:c.G3105A:p.R1035R |
RS3743031 |
HDL cholesterol:LDL
cholesterol:Serum creatinine:Triglycerides:HDL cholesterol:College
completion:Years of education:Gene expression of RPAP1 in normal prepouch
ileum |
|
15 |
41815516 |
2 |
RPAP1 |
G |
C |
exonic |
nonsynonymous SNV |
RPAP1:NM_015540:exon18:c.C2473G:p.Q825E |
|
15 |
41819716 |
1 |
RPAP1 |
C |
T |
exonic |
nonsynonymous SNV |
RPAP1:NM_015540:exon12:c.G1516A:p.E506K |
RS1200345 |
Gene expression of RPAP1 in normal
prepouch ileum |
|
15 |
41821752 |
1 |
RPAP1 |
T |
G |
exonic |
synonymous SNV |
RPAP1:NM_015540:exon9:c.A1074C:p.R358R |
RS1200349 |
Gene expression of RPAP1 in
liver:LDL cholesterol:HDL cholesterol:Biploar disorder (bipolar
schizoaffective disorder):Lung function, ratio of forced expiratory volume in
1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Gene expression of
RPAP1 in peripheral blood monocytes:Triglycerides:HDL
cholesterol:Microalbuminuria:Vascular dementia:Years of education:Gene
expression of RPAP1 in normal prepouch ileum |
|
15 |
41829230 |
1 |
RPAP1 |
A |
G |
exonic |
synonymous SNV |
RPAP1:NM_015540:exon2:c.T94C:p.L32L |
RS721772 |
HDL cholesterol:Gene expression of
RPAP1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene
expression of RPAP1 in blood:Bipolar disorder:Years of education:College
completion:Gene expression of RPAP1 in normal prepouch ileum:Primary rhegmatogenous
retinal detachment |
|
15 |
41860490 |
1 |
TYRO3 |
T |
A |
exonic |
nonsynonymous SNV |
TYRO3:NM_001330264:exon8:c.T902A:p.I301N,TYRO3:NM_006293:exon8:c.T1037A:p.I346N |
|
15 |
42138456 |
1 |
JMJD7-PLA2G4B;PLA2G4B |
G |
A |
exonic |
synonymous SNV |
PLA2G4B:NM_001114633:exon17:c.G1656A:p.R552R,JMJD7-PLA2G4B:NM_001198588:exon22:c.G2349A:p.R783R,JMJD7-PLA2G4B:NM_005090:exon22:c.G2349A:p.R783R |
RS1197669 |
Gene expression of SPTBN5 in
peripheral blood monocytes:Gene expression of EHD4 in peripheral blood
monocytes:Gene expression of MAPKBP1 in peripheral blood monocytes:Gene
expression of RPAP1 in peripheral blood monocytes:Triglycerides:HDL
cholesterol:Years of education:Gene expression of MAPKBP1 (ENSG00000137802)
in dendritic cells:College completion:Gene expression of SPTBN5 (probeID
ILMN_1807609) in cerebellum in non-Alzheimer's disease samples:Gene
expression of SPTBN5 (probeID ILMN_1807609) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of SPTBN5 (probeID ILMN_1807609)
in cerebellum in Alzheimer's disease cases:Gene expression of SPTBN5 (probeID
ILMN_1807609) in cerebellum in Alzheimer's disease cases and controls |
|
15 |
42140053 |
1 |
JMJD7-PLA2G4B;PLA2G4B |
C |
A |
exonic |
nonsynonymous SNV |
PLA2G4B:NM_001114633:exon20:c.C2341A:p.H781N,JMJD7-PLA2G4B:NM_005090:exon25:c.C3034A:p.H1012N |
|
15 |
42211486 |
2 |
EHD4 |
A |
G |
exonic |
synonymous SNV |
EHD4:NM_139265:exon4:c.T846C:p.F282F |
RS1704396 |
Fasting insulin:Triglycerides:Gene
expression of EHD4 (ENSG00000103966) in dendritic cells:Parkinson's
disease:College completion:Obesity with early age of onset (age >2) |
|
15 |
42453958 |
1 |
VPS39 |
C |
T |
exonic |
nonsynonymous SNV |
VPS39:NM_015289:exon24:c.G2474A:p.R825Q,VPS39:NM_001301138:exon25:c.G2507A:p.R836Q |
|
15 |
42565588 |
1 |
TMEM87A |
C |
A |
exonic |
synonymous SNV |
TMEM87A:NM_001110503:exon1:c.G9T:p.A3A,TMEM87A:NM_015497:exon1:c.G9T:p.A3A |
RS2277533 |
Premature ovarian
failure:Simpson-Angus Scale:Tardive dyskinesia:AraC toxicity as measured by
AraC IC50 in lymphoblastoid cell lines:HDL cholesterol:Height:Gene expression
of TMEM87A in blood:Obesity with early age of onset (age >2) |
|
15 |
42570718 |
2 |
GANC |
A |
G |
exonic |
nonsynonymous SNV |
GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R,GANC:NM_001301409:exon4:c.A131G:p.Q44R |
RS8024732 |
Stabilized warfarin dose:Irritible
bowel syndrome:HOMA-B:Bipolar disorder:Transmission distortion:Paternal
transmission distortion |
|
15 |
43678117 |
1 |
TUBGCP4 |
G |
A |
exonic |
synonymous SNV |
TUBGCP4:NM_001286414:exon8:c.G852A:p.Q284Q,TUBGCP4:NM_014444:exon8:c.G852A:p.Q284Q |
|
15 |
44038899 |
2 |
PDIA3 |
C |
T |
exonic |
synonymous SNV |
PDIA3:NM_005313:exon1:c.C162T:p.A54A |
|
15 |
45364534 |
2 |
SORD |
A |
C |
exonic |
nonsynonymous SNV |
SORD:NM_003104:exon8:c.A806C:p.N269T |
|
15 |
45467540 |
2 |
SHF |
C |
G |
exonic |
nonsynonymous SNV |
SHF:NM_001301168:exon3:c.G724C:p.A242P,SHF:NM_001301169:exon3:c.G724C:p.A242P,SHF:NM_001301170:exon3:c.G724C:p.A242P,SHF:NM_001301171:exon3:c.G118C:p.A40P,SHF:NM_138356:exon4:c.G529C:p.A177P |
|
15 |
45968435 |
1 |
SQOR |
T |
C |
exonic |
nonsynonymous SNV |
SQOR:NM_021199:exon6:c.T791C:p.I264T,SQOR:NM_001271213:exon7:c.T791C:p.I264T |
RS1044032 |
Neuroticism:Serum creatinine:Autism
with low IQ:Autism:Age at death with kuru exposure:Transmission
distortion:Primary rhegmatogenous retinal detachment:Birth weight |
|
15 |
45981317 |
1 |
SQOR |
G |
A |
exonic |
synonymous SNV |
SQOR:NM_021199:exon9:c.G1197A:p.P399P,SQOR:NM_001271213:exon10:c.G1197A:p.P399P |
RS10643 |
Barnes Akathisia Rating
Scale:Triglycerides change with statins:Gene expression of SQRDL [probe
ILMN_4694] in osteoblasts treated with BMP2:Gene expression of SQRDL [probe
ILMN_4694] in untreated osteoblasts:Gene expression of SQRDL [probe
ILMN_4694] in osteoblasts treated with PGE2:Gene expression of SQRDL in
blood:Variant Creutzfeldt-Jakob disease:Gene expression of SQRDL
(ENSG00000137767) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of SQRDL (ENSG00000137767) in dendritic cells |
|
15 |
48460314 |
2 |
|
15 |
49285001 |
1 |
SECISBP2L |
G |
C |
exonic |
nonsynonymous SNV |
SECISBP2L:NM_014701:exon17:c.C2611G:p.P871A,SECISBP2L:NM_001193489:exon18:c.C2746G:p.P916A |
|
15 |
49293194 |
1 |
SECISBP2L |
C |
A |
exonic |
nonsynonymous SNV |
SECISBP2L:NM_014701:exon14:c.G1993T:p.V665L,SECISBP2L:NM_001193489:exon15:c.G2128T:p.V710L |
RS11854184 |
LDL cholesterol:Major depressive
disorder (broad definition) (males):Major depressive disorder (broad
definition):Alzheimer's disease |
|
15 |
49429410 |
1 |
COPS2 |
A |
G |
exonic |
synonymous SNV |
COPS2:NM_001143887:exon6:c.T498C:p.Y166Y,COPS2:NM_004236:exon6:c.T477C:p.Y159Y |
RS17473148 |
Triglycerides:Total cholesterol:LDL
cholesterol:Infant head circumference |
|
15 |
49620200 |
1 |
GALK2 |
C |
T |
exonic |
synonymous SNV |
GALK2:NM_001001556:exon10:c.C1188T:p.C396C,GALK2:NM_001289031:exon10:c.C1149T:p.C383C,GALK2:NM_002044:exon10:c.C1221T:p.C407C,GALK2:NM_001289030:exon11:c.C1149T:p.C383C |
RS1055254 |
Triglycerides:Total cholesterol:LDL
cholesterol:Gene expression of SECISBP2L in normal prepouch ileum:Infant head
circumference |
|
15 |
50474766 |
2 |
SLC27A2 |
A |
C |
exonic |
nonsynonymous SNV |
SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q |
RS1648348 |
Total cholesterol change with
statins |
|
15 |
50773755 |
2 |
USP8 |
G |
A |
exonic |
synonymous SNV |
USP8:NM_001283049:exon9:c.G1065A:p.Q355Q,USP8:NM_001128610:exon11:c.G1296A:p.Q432Q,USP8:NM_005154:exon11:c.G1296A:p.Q432Q |
|
15 |
50878630 |
1 |
TRPM7 |
G |
A |
exonic |
nonsynonymous SNV |
TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I |
RS8042919 |
Triglycerides |
|
15 |
51294832 |
1 |
AP4E1 |
G |
A |
exonic |
synonymous SNV |
AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q |
RS3825798 |
Alzheimer's disease:Total
cholesterol:Serum creatinine:Chronic kidney disease:Autism with low
IQ:Height:Waist hip ratio:Gene expression of SPPL2A [probe ILMN_27275] in
osteoblasts treated with PGE2:Diastolic blood pressure (DBP):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Infant head
circumference:Parkinson's disease |
|
15 |
51529112 |
1 |
CYP19A1 |
T |
C |
exonic |
synonymous SNV |
CYP19A1:NM_001347256:exon2:c.A240G:p.V80V,CYP19A1:NM_000103:exon3:c.A240G:p.V80V,CYP19A1:NM_001347248:exon3:c.A240G:p.V80V,CYP19A1:NM_001347249:exon3:c.A240G:p.V80V,CYP19A1:NM_001347250:exon3:c.A240G:p.V80V,CYP19A1:NM_001347251:exon3:c.A240G:p.V80V,CYP19A1:NM_001347252:exon3:c.A240G:p.V80V,CYP19A1:NM_001347253:exon3:c.A240G:p.V80V,CYP19A1:NM_001347254:exon3:c.A240G:p.V80V,CYP19A1:NM_001347255:exon3:c.A240G:p.V80V,CYP19A1:NM_031226:exon4:c.A240G:p.V80V |
RS700518 |
Irritible bowel
syndrome:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Partial
epilepsy:Height:Bipolar disorder:Age at death with kuru exposure:Resistance
to kuru in aged women despite likely exposure:Birth weight |
|
15 |
52510796 |
1 |
MYO5C |
A |
G |
exonic |
synonymous SNV |
MYO5C:NM_018728:exon32:c.T3874C:p.L1292L |
|
15 |
52531941 |
2 |
MYO5C |
A |
G |
exonic |
synonymous SNV |
MYO5C:NM_018728:exon21:c.T2692C:p.L898L |
RS11635028 |
Total cholesterol:Body mass index
(BMI):Bipolar disorder |
|
15 |
52534344 |
2 |
MYO5C |
G |
A |
exonic |
synonymous SNV |
MYO5C:NM_018728:exon20:c.C2457T:p.R819R |
RS3751631 |
Hip bone mineral density
(BMD):Triglycerides:Gene expression of MYO5C in CD4+ lymphocytes:Years of
education |
|
15 |
52539673 |
2 |
MYO5C |
C |
T |
exonic |
synonymous SNV |
MYO5C:NM_018728:exon15:c.G1863A:p.R621R |
|
15 |
52556429 |
2 |
MYO5C |
A |
G |
exonic |
synonymous SNV |
MYO5C:NM_018728:exon9:c.T1005C:p.N335N |
RS4776032 |
Salmonella-induced pyroptosis |
|
15 |
52611451 |
1 |
MYO5A |
A |
G |
exonic |
synonymous SNV |
MYO5A:NM_001142495:exon37:c.T4884C:p.D1628D,MYO5A:NM_000259:exon38:c.T4965C:p.D1655D |
RS2290332 |
Total cholesterol:LDL cholesterol |
|
15 |
52901638 |
2 |
FAM214A |
T |
C |
exonic |
synonymous SNV |
FAM214A:NM_001286495:exon5:c.A1494G:p.Q498Q,FAM214A:NM_019600:exon6:c.A1473G:p.Q491Q |
RS3751614 |
Gene expression of Hs.11898 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Autism with low
IQ:Birth weight |
|
15 |
52901977 |
2 |
FAM214A |
G |
A |
exonic |
synonymous SNV |
FAM214A:NM_001286495:exon5:c.C1155T:p.A385A,FAM214A:NM_019600:exon6:c.C1134T:p.A378A |
RS2414166 |
Gene expression of Hs.11898 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:LDL
cholesterol:Birth weight:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
15 |
55653031 |
2 |
CCPG1 |
A |
G |
exonic |
synonymous SNV |
CCPG1:NM_001204450:exon8:c.T940C:p.L314L,CCPG1:NM_004748:exon8:c.T940C:p.L314L,CCPG1:NM_020739:exon8:c.T940C:p.L314L |
RS501231 |
Chronic kidney disease:Acute lung
injury following major trauma:Advanced age-related macular degeneration
(geographic atrophy) |
|
15 |
56386577 |
2 |
RFX7 |
T |
G |
exonic |
nonsynonymous SNV |
RFX7:NM_022841:exon9:c.A3349C:p.N1117H |
|
15 |
56387142 |
1 |
RFX7 |
G |
A |
exonic |
synonymous SNV |
RFX7:NM_022841:exon9:c.C2784T:p.H928H |
|
15 |
56387931 |
2 |
RFX7 |
C |
T |
exonic |
synonymous SNV |
RFX7:NM_022841:exon9:c.G1995A:p.Q665Q |
|
15 |
56388033 |
1 |
RFX7 |
T |
C |
exonic |
synonymous SNV |
RFX7:NM_022841:exon9:c.A1893G:p.L631L |
RS12439907 |
Waist hip ratio:Mitral annular
calcium |
|
15 |
56959028 |
2 |
ZNF280D |
C |
T |
exonic |
nonsynonymous SNV |
ZNF280D:NM_001002843:exon14:c.G1663A:p.V555I,ZNF280D:NM_001288588:exon15:c.G1702A:p.V568I,ZNF280D:NM_017661:exon15:c.G1702A:p.V568I |
RS28620278 |
Gene expression of ZNF280D in
peripheral blood monocytes |
|
15 |
57731335 |
2 |
CGNL1 |
A |
C |
exonic |
nonsynonymous SNV |
CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P |
|
15 |
57731728 |
1 |
CGNL1 |
A |
G |
exonic |
nonsynonymous SNV |
CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A |
RS1280396 |
Variant Creutzfeldt-Jakob
disease:Obesity with early age of onset (age >2):Hepatitis C virus
(HCV)-induced liver fibrosis:Longevity (exceptional longevity) |
|
15 |
58000981 |
2 |
GCOM1;POLR2M |
C |
T |
exonic |
synonymous SNV |
POLR2M:NM_015532:exon2:c.C183T:p.A61A,GCOM1:NM_001285900:exon13:c.C1374T:p.A458A |
RS1062707 |
Fasting insulin:HOMA-IR |
|
15 |
58838038 |
2 |
LIPC |
C |
G |
exonic |
synonymous SNV |
LIPC:NM_000236:exon5:c.C672G:p.T224T |
RS6084 |
LDL cholesterol:HDL cholesterol |
|
15 |
58853079 |
2 |
LIPC |
C |
A |
exonic |
nonsynonymous SNV |
LIPC:NM_000236:exon7:c.C1068A:p.F356L |
RS3829462 |
HDL cholesterol:Infant head
circumference |
|
15 |
58853109 |
2 |
LIPC |
A |
G |
exonic |
synonymous SNV |
LIPC:NM_000236:exon7:c.A1098G:p.T366T |
RS3829461 |
HDL cholesterol:Total
cholesterol:Infant head circumference:Coronary artery disease (CAD) |
|
15 |
59347929 |
1 |
RNF111 |
C |
A |
exonic |
synonymous SNV |
RNF111:NM_001270528:exon4:c.C1056A:p.S352S,RNF111:NM_001270529:exon4:c.C1056A:p.S352S,RNF111:NM_001270530:exon4:c.C1056A:p.S352S,RNF111:NM_001330331:exon4:c.C1056A:p.S352S,RNF111:NM_017610:exon4:c.C1056A:p.S352S |
RS1446239 |
Gene expression of CSDA in YRI
lymphoblastoid cell lines:Gene expression of LOC440359 in YRI lymphoblastoid
cell lines:Percent cell survival after 80 umol/L carboplatin:HDL cholesterol |
|
15 |
59510189 |
1 |
MYO1E |
G |
A |
exonic |
synonymous SNV |
MYO1E:NM_004998:exon10:c.C1008T:p.S336S |
RS2230155 |
Type 2 diabetes, combined control
dataset:Triglycerides change with statins:HDL
cholesterol:Triglycerides:Height:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
15 |
59963488 |
2 |
BNIP2 |
A |
G |
exonic |
synonymous SNV |
BNIP2:NM_001320674:exon7:c.T964C:p.L322L,BNIP2:NM_001320675:exon7:c.T787C:p.L263L,BNIP2:NM_004330:exon7:c.T964C:p.L322L |
RS1135148 |
Gene expression of GTF2A2 [probe
243985_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Rheumatoid arthritis:Waist hip ratio:Body mass index (BMI):Birth
weight:Parkinson's disease |
|
15 |
60639874 |
1 |
ANXA2 |
G |
A |
exonic |
synonymous SNV |
ANXA2:NM_001002858:exon13:c.C1029T:p.G343G,ANXA2:NM_004039:exon13:c.C975T:p.G325G,ANXA2:NM_001002857:exon14:c.C975T:p.G325G,ANXA2:NM_001136015:exon14:c.C975T:p.G325G |
|
15 |
60734697 |
1 |
ICE2 |
A |
G |
exonic |
synonymous SNV |
ICE2:NM_001018089:exon12:c.T1932C:p.Y644Y,ICE2:NM_024611:exon12:c.T2343C:p.Y781Y |
|
15 |
60741229 |
1 |
ICE2 |
C |
G |
exonic |
nonsynonymous SNV |
ICE2:NM_001018089:exon10:c.G1526C:p.G509A,ICE2:NM_024611:exon10:c.G1937C:p.G646A |
|
15 |
63009804 |
2 |
TLN2 |
C |
T |
exonic |
synonymous SNV |
TLN2:NM_015059:exon21:c.C2793T:p.A931A |
|
15 |
63351840 |
2 |
TPM1 |
C |
A |
exonic |
synonymous SNV |
TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A |
RS1071646 |
HDL cholesterol:Total
cholesterol:Chronic kidney disease:Serum creatinine:Triglycerides:HDL
cholesterol:Height:Gene expression of TPM1 in blood:Gene expression of LACTB
in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar
disorder:Parkinson's disease:College completion |
|
15 |
63414083 |
2 |
LACTB |
A |
C |
exonic |
nonsynonymous SNV |
LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L |
|
15 |
63433766 |
2 |
LACTB |
G |
A |
exonic |
nonsynonymous SNV |
LACTB:NM_032857:exon6:c.G1406A:p.R469K |
RS2729835 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Gene expression of LACTB in peripheral blood
monocytes:Triglycerides:HDL cholesterol:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of LACTB in blood:Diastolic blood
pressure (DBP):Prostate cancer:Parkinson's disease:Gene expression of LACTB
(ENSG00000103642) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of LACTB in normal prepouch ileum:Obesity with
early age of onset (age >2) |
|
15 |
63918307 |
2 |
HERC1 |
G |
C |
exonic |
synonymous SNV |
HERC1:NM_003922:exon71:c.C13152G:p.P4384P |
RS1140422 |
Triglycerides:Triglycerides:HDL
cholesterol |
|
15 |
63922752 |
2 |
HERC1 |
T |
A |
exonic |
synonymous SNV |
HERC1:NM_003922:exon69:c.A12879T:p.I4293I |
RS10851731 |
Fasting blood glucose |
|
15 |
63932513 |
2 |
HERC1 |
G |
C |
exonic |
synonymous SNV |
HERC1:NM_003922:exon61:c.C11739G:p.L3913L |
|
15 |
63954029 |
2 |
HERC1 |
C |
T |
exonic |
synonymous SNV |
HERC1:NM_003922:exon45:c.G9093A:p.P3031P |
RS2228511 |
Fasting blood glucose:LDL
cholesterol |
|
15 |
63970456 |
2 |
HERC1 |
T |
C |
exonic |
nonsynonymous SNV |
HERC1:NM_003922:exon37:c.A6658G:p.I2220V |
RS2228510 |
Spine bone mineral density
(BMD):Triglycerides:HOMA-IR:Fasting blood glucose:Fasting
insulin:Triglycerides:Late onset Alzheimer's disease:Sporadic
Creutzfeldt-Jakob disease:Hypertension (early onset hypertension) |
|
15 |
64385851 |
2 |
FAM96A |
T |
C |
exonic |
synonymous SNV |
FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E |
|
15 |
64418397 |
1 |
SNX1 |
G |
A |
exonic |
synonymous SNV |
SNX1:NM_148955:exon4:c.G435A:p.P145P,SNX1:NM_001242933:exon6:c.G630A:p.P210P,SNX1:NM_003099:exon6:c.G630A:p.P210P |
RS1130603 |
Years of education |
|
15 |
64737225 |
1 |
TRIP4 |
G |
A |
exonic |
synonymous SNV |
TRIP4:NM_001321924:exon12:c.G906A:p.E302E,TRIP4:NM_016213:exon12:c.G1596A:p.E532E |
|
15 |
65108504 |
1 |
PIF1 |
A |
T |
exonic |
nonsynonymous SNV |
PIF1:NM_001286496:exon13:c.T1919A:p.I640N,PIF1:NM_001286499:exon13:c.T1760A:p.I587N,PIF1:NM_025049:exon13:c.T1919A:p.I640N |
RS17802279 |
Gene expression of LOC348094 in
CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Total cholesterol
change with statins:LDL cholesterol change with statins:Obesity with early
age of onset (age >2) |
|
15 |
65116328 |
2 |
PIF1 |
A |
G |
exonic |
synonymous SNV |
PIF1:NM_001286496:exon2:c.T207C:p.F69F,PIF1:NM_001286497:exon2:c.T207C:p.F69F,PIF1:NM_001286499:exon2:c.T48C:p.F16F,PIF1:NM_025049:exon2:c.T207C:p.F69F |
|
15 |
65621441 |
1 |
IGDCC3 |
C |
A |
exonic |
nonsynonymous SNV |
IGDCC3:NM_004884:exon14:c.G2251T:p.V751L |
RS12907128 |
Triglycerides:Neuroblastoma (brain
cancer):Gene expression of PARP16 in blood |
|
15 |
65621857 |
2 |
IGDCC3 |
T |
C |
exonic |
synonymous SNV |
IGDCC3:NM_004884:exon13:c.A2076G:p.L692L |
RS509652 |
Cystatin C in serum |
|
15 |
65667724 |
2 |
IGDCC3 |
A |
G |
exonic |
synonymous SNV |
IGDCC3:NM_004884:exon2:c.T120C:p.A40A |
|
15 |
65994733 |
1 |
DENND4A |
C |
T |
exonic |
synonymous SNV |
DENND4A:NM_001144823:exon17:c.G2340A:p.V780V,DENND4A:NM_001320835:exon17:c.G2340A:p.V780V,DENND4A:NM_005848:exon17:c.G2340A:p.V780V |
RS17810074 |
HEXIM1 gene expression in
lymphoblastoid cell lines:AraC toxicity as measured by AraC IC50 in
lymphoblastoid cell lines:Gene expression of PTPLAD1 in peripheral blood
monocytes:Microalbuminuria:PROP taste detection threshold |
|
15 |
66034069 |
1 |
DENND4A |
A |
C |
exonic |
synonymous SNV |
DENND4A:NM_001144823:exon5:c.T615G:p.T205T,DENND4A:NM_001320835:exon5:c.T615G:p.T205T,DENND4A:NM_005848:exon5:c.T615G:p.T205T |
|
15 |
66612965 |
1 |
DIS3L |
T |
C |
exonic |
synonymous SNV |
DIS3L:NM_001323937:exon8:c.T843C:p.N281N,DIS3L:NM_001323940:exon8:c.T111C:p.N37N,DIS3L:NM_001323943:exon8:c.T111C:p.N37N,DIS3L:NM_001323948:exon8:c.T1041C:p.N347N,DIS3L:NM_001143688:exon9:c.T1221C:p.N407N,DIS3L:NM_001323936:exon9:c.T972C:p.N324N,DIS3L:NM_001323938:exon9:c.T819C:p.N273N,DIS3L:NM_001323941:exon9:c.T819C:p.N273N,DIS3L:NM_001323944:exon9:c.T1170C:p.N390N,DIS3L:NM_001323945:exon9:c.T972C:p.N324N,DIS3L:NM_001323946:exon9:c.T819C:p.N273N,DIS3L:NM_133375:exon9:c.T972C:p.N324N,DIS3L:NM_001323939:exon10:c.T819C:p.N273N |
|
15 |
66618342 |
1 |
DIS3L |
A |
G |
exonic |
nonsynonymous SNV |
DIS3L:NM_001323937:exon11:c.A1463G:p.D488G,DIS3L:NM_001323940:exon11:c.A731G:p.D244G,DIS3L:NM_001323943:exon11:c.A731G:p.D244G,DIS3L:NM_001323948:exon11:c.A1661G:p.D554G,DIS3L:NM_001143688:exon12:c.A1841G:p.D614G,DIS3L:NM_001323936:exon12:c.A1592G:p.D531G,DIS3L:NM_001323938:exon12:c.A1439G:p.D480G,DIS3L:NM_001323941:exon12:c.A1439G:p.D480G,DIS3L:NM_001323944:exon12:c.A1790G:p.D597G,DIS3L:NM_001323945:exon12:c.A1592G:p.D531G,DIS3L:NM_001323946:exon12:c.A1439G:p.D480G,DIS3L:NM_133375:exon12:c.A1592G:p.D531G,DIS3L:NM_001323939:exon13:c.A1439G:p.D480G |
RS3803412 |
Triglycerides |
|
15 |
66644521 |
2 |
TIPIN |
C |
G |
exonic |
nonsynonymous SNV |
TIPIN:NM_017858:exon3:c.G158C:p.R53P |
|
15 |
66821250 |
1 |
ZWILCH |
A |
G |
exonic |
nonsynonymous SNV |
ZWILCH:NM_001287822:exon10:c.A688G:p.S230G,ZWILCH:NM_001287823:exon10:c.A688G:p.S230G,ZWILCH:NM_001287821:exon11:c.A688G:p.S230G,ZWILCH:NM_017975:exon11:c.A1030G:p.S344G |
RS11071896 |
Gene expression of NM_133375 in
liver:Total cholesterol:Rheumatoid arthritis:Triglycerides:Body mass index
(BMI):Neuroblastoma (brain cancer):Gene expression of MAP2K1 in
blood:Resistance to kuru in aged women despite likely exposure |
|
15 |
67457335 |
2 |
SMAD3 |
A |
G |
exonic |
synonymous SNV |
SMAD3:NM_001145103:exon2:c.A177G:p.L59L,SMAD3:NM_005902:exon2:c.A309G:p.L103L |
|
15 |
67528374 |
2 |
AAGAB |
T |
G |
exonic |
nonsynonymous SNV |
AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L |
RS7173826 |
Spine bone mineral density
(BMD):Tardive dyskinesia:Total cholesterol change with statins:Autism:Body
mass index (BMI):Diastolic blood pressure (DBP) |
|
15 |
68583175 |
2 |
FEM1B |
T |
C |
exonic |
synonymous SNV |
FEM1B:NM_015322:exon2:c.T1479C:p.N493N |
|
15 |
69561518 |
2 |
GLCE |
G |
A |
exonic |
nonsynonymous SNV |
GLCE:NM_001324092:exon4:c.G1018A:p.V340I,GLCE:NM_015554:exon5:c.G1789A:p.V597I,GLCE:NM_001324093:exon6:c.G1789A:p.V597I,GLCE:NM_001324094:exon6:c.G1789A:p.V597I |
RS3865014 |
Coronary artery disease
(CAD):Stabilized warfarin dose:Rheumatoid arthritis:HDL
cholesterol:Triglycerides change with statins:Body mass index (BMI):PROP
taste detection threshold:Bipolar disorder:Obesity with early age of onset
(age >2):Aortic valve calcium:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
15 |
69728949 |
1 |
KIF23 |
A |
G |
exonic |
synonymous SNV |
KIF23:NM_001281301:exon13:c.A1113G:p.P371P,KIF23:NM_004856:exon14:c.A1443G:p.P481P,KIF23:NM_138555:exon14:c.A1443G:p.P481P |
RS3825858 |
Irritible bowel
syndrome:Schizophrenia:Resistance to kuru in aged women despite likely
exposure |
|
15 |
69732736 |
1 |
KIF23 |
C |
T |
exonic |
synonymous SNV |
KIF23:NM_001281301:exon16:c.C1647T:p.T549T,KIF23:NM_004856:exon17:c.C1977T:p.T659T,KIF23:NM_138555:exon17:c.C1977T:p.T659T |
RS937724 |
Schizophrenia |
|
15 |
70960068 |
2 |
UACA |
G |
A |
exonic |
synonymous SNV |
UACA:NM_001008224:exon16:c.C2916T:p.Y972Y,UACA:NM_018003:exon16:c.C2955T:p.Y985Y |
RS934005 |
Diastolic blood pressure
(DBP):Sporadic Creutzfeldt-Jakob disease |
|
15 |
70991925 |
2 |
UACA |
G |
C |
exonic |
synonymous SNV |
UACA:NM_001008224:exon2:c.C114G:p.T38T,UACA:NM_018003:exon2:c.C153G:p.T51T |
RS4776525 |
Adiponectin levels |
|
15 |
71125093 |
2 |
LARP6 |
G |
A |
exonic |
synonymous SNV |
LARP6:NM_001286679:exon3:c.C222T:p.C74C,LARP6:NM_018357:exon3:c.C774T:p.C258C |
RS3825970 |
HOMA-B:LDL cholesterol:Total
cholesterol:HDL cholesterol change with statins:Total cholesterol change with
statins:LDL cholesterol change with statins:Advanced age-related macular
degeneration |
|
15 |
71125204 |
2 |
LARP6 |
A |
G |
exonic |
synonymous SNV |
LARP6:NM_001286679:exon3:c.T111C:p.F37F,LARP6:NM_018357:exon3:c.T663C:p.F221F |
RS1549317 |
Irritible bowel syndrome:HOMA-B:LDL
cholesterol:Total cholesterol:HDL cholesterol change with statins:Total
cholesterol change with statins:LDL cholesterol change with statins:Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration |
|
15 |
72432583 |
2 |
SENP8 |
A |
G |
exonic |
nonsynonymous SNV |
SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A |
|
15 |
72637795 |
2 |
HEXA |
T |
C |
exonic |
synonymous SNV |
HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E |
|
15 |
72638892 |
2 |
HEXA |
T |
C |
exonic |
nonsynonymous SNV |
HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V |
|
15 |
72873158 |
1 |
ARIH1 |
A |
G |
exonic |
synonymous SNV |
ARIH1:NM_005744:exon12:c.A1302G:p.L434L |
|
15 |
73023937 |
2 |
BBS4 |
T |
C |
exonic |
synonymous SNV |
BBS4:NM_001252678:exon11:c.T390C:p.F130F,BBS4:NM_001320665:exon11:c.T837C:p.F279F,BBS4:NM_033028:exon12:c.T906C:p.F302F |
|
15 |
74277795 |
2 |
STOML1 |
T |
C |
exonic |
synonymous SNV |
STOML1:NM_001256673:exon4:c.A504G:p.A168A,STOML1:NM_001256674:exon4:c.A504G:p.A168A,STOML1:NM_001324226:exon4:c.A186G:p.A62A,STOML1:NM_001324229:exon4:c.A186G:p.A62A,STOML1:NM_001256672:exon5:c.A654G:p.A218A,STOML1:NM_001256675:exon5:c.A654G:p.A218A,STOML1:NM_001256676:exon5:c.A393G:p.A131A,STOML1:NM_001324227:exon5:c.A393G:p.A131A,STOML1:NM_001324228:exon5:c.A393G:p.A131A,STOML1:NM_004809:exon5:c.A654G:p.A218A,STOML1:NM_001256677:exon6:c.A528G:p.A176A,STOML1:NM_001324230:exon6:c.A528G:p.A176A |
|
15 |
74328116 |
2 |
PML |
A |
G |
exonic |
nonsynonymous SNV |
PML:NM_033250:exon7:c.A2170G:p.S724G,PML:NM_033239:exon8:c.A2314G:p.S772G |
|
15 |
74328141 |
1 |
PML |
G |
T |
exonic |
nonsynonymous SNV |
PML:NM_033250:exon7:c.G2195T:p.G732V,PML:NM_033239:exon8:c.G2339T:p.G780V |
|
15 |
74328206 |
1 |
PML |
G |
C |
exonic |
nonsynonymous SNV |
PML:NM_033250:exon7:c.G2260C:p.A754P,PML:NM_033239:exon8:c.G2404C:p.A802P |
RS743582 |
Triglycerides |
|
15 |
74948095 |
1 |
EDC3 |
C |
T |
exonic |
nonsynonymous SNV |
EDC3:NM_001351379:exon4:c.G364A:p.V122M,EDC3:NM_025083:exon4:c.G799A:p.V267M,EDC3:NM_001142444:exon5:c.G799A:p.V267M,EDC3:NM_001351378:exon6:c.G799A:p.V267M,EDC3:NM_001142443:exon7:c.G799A:p.V267M |
|
15 |
75131661 |
1 |
ULK3 |
A |
G |
exonic |
synonymous SNV |
ULK3:NM_001099436:exon8:c.T906C:p.A302A,ULK3:NM_001284364:exon8:c.T906C:p.A302A,ULK3:NM_001284365:exon8:c.T555C:p.A185A |
RS4886615 |
Gene expression of ULK3 in
liver:Carboplatin-induced neutropenia/leukopenia in cancer patients |
|
15 |
75131959 |
1 |
ULK3 |
A |
G |
exonic |
synonymous SNV |
ULK3:NM_001099436:exon7:c.T792C:p.F264F,ULK3:NM_001284364:exon7:c.T792C:p.F264F,ULK3:NM_001284365:exon7:c.T441C:p.F147F |
RS936227 |
APOB (apolipoprotein B):Hip bone
mineral density (BMD):LDL cholesterol:Differential exon level expression of
ULK3 [probe 3633118] in brain cortex:Gene expression of SCAMP2 [probe
3633148] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:Gene
expression of MPI in peripheral blood monocytes:Gene expression of ULK3 in
peripheral blood monocytes:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Habitual caffeine consumption:Gene expression of CSK in blood:Gene
expression of C15orf17 in blood:Gene expression of COX5A in blood:Gene
expression of SCAMP2 in blood:Gene expression of ULK3 in blood:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Neuroticism:Coronary artery
disease (CAD):Infant head circumference:Adiponectin levels |
|
15 |
75189930 |
1 |
MPI |
A |
G |
exonic |
synonymous SNV |
MPI:NM_001289156:exon7:c.A981G:p.V327V,MPI:NM_001289157:exon7:c.A948G:p.V316V,MPI:NM_001330372:exon8:c.A1071G:p.V357V,MPI:NM_002435:exon8:c.A1131G:p.V377V |
RS1130741 |
Total cholesterol:LDL
cholesterol:Coffee consumption:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Advanced age-related macular degeneration:All topoisomerase
inhibitors-induced neutropenia/leukopenia in cancer patients:Infant head
circumference:Adiponectin levels:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Coronary artery disease
(CAD):Neuroticism |
|
15 |
75305040 |
1 |
SCAMP5 |
A |
G |
exonic |
synonymous SNV |
SCAMP5:NM_138967:exon3:c.A30G:p.P10P,SCAMP5:NM_001178111:exon4:c.A30G:p.P10P,SCAMP5:NM_001178112:exon4:c.A30G:p.P10P |
RS7174129 |
Rheumatoid arthritis:Gene
expression of SCAMP5 [probe ILMN_3255] in osteoblasts:Total cholesterol:LDL
cholesterol:Neuroblastoma (brain cancer):Sporadic Creutzfeldt-Jakob
disease:Gene expression of SCAMP5 in normal prepouch ileum |
|
15 |
75498548 |
2 |
C15orf39 |
A |
G |
exonic |
synonymous SNV |
C15orf39:NM_015492:exon2:c.A159G:p.A53A |
|
15 |
75498744 |
1 |
C15orf39 |
G |
C |
exonic |
nonsynonymous SNV |
C15orf39:NM_015492:exon2:c.G355C:p.A119P |
RS1873379 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Waist hip ratio:Diastolic blood pressure
(DBP):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Adiponectin levels |
|
15 |
75499602 |
2 |
C15orf39 |
C |
A |
exonic |
synonymous SNV |
C15orf39:NM_015492:exon2:c.C1213A:p.R405R |
|
15 |
75499619 |
2 |
C15orf39 |
T |
C |
exonic |
synonymous SNV |
C15orf39:NM_015492:exon2:c.T1230C:p.P410P |
|
15 |
75499861 |
2 |
C15orf39 |
G |
A |
exonic |
nonsynonymous SNV |
C15orf39:NM_015492:exon2:c.G1472A:p.G491D |
|
15 |
75503147 |
2 |
C15orf39 |
G |
A |
exonic |
nonsynonymous SNV |
C15orf39:NM_015492:exon3:c.G2834A:p.G945D |
|
15 |
75650836 |
1 |
MAN2C1 |
G |
A |
exonic |
synonymous SNV |
MAN2C1:NM_001256496:exon18:c.C2073T:p.D691D,MAN2C1:NM_001256494:exon20:c.C2421T:p.D807D,MAN2C1:NM_001256495:exon20:c.C2370T:p.D790D,MAN2C1:NM_006715:exon20:c.C2370T:p.D790D |
RS1128933 |
LDL cholesterol:Total cholesterol
change with statins:LDL cholesterol:Total cholesterol |
|
15 |
77344793 |
1 |
TSPAN3 |
T |
A |
exonic |
synonymous SNV |
TSPAN3:NM_001168412:exon5:c.A411T:p.V137V,TSPAN3:NM_198902:exon5:c.A528T:p.V176V,TSPAN3:NM_005724:exon6:c.A603T:p.V201V |
RS11737 |
Gene expression of PSTPIP1 in
peripheral blood monocytes:Urinary albumin-to-creatinine
ratio:Salmonella-induced pyroptosis:Birth weight:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
15 |
78337303 |
1 |
TBC1D2B |
C |
T |
exonic |
nonsynonymous SNV |
TBC1D2B:NM_015079:exon3:c.G622A:p.A208T,TBC1D2B:NM_144572:exon3:c.G622A:p.A208T |
|
15 |
78758677 |
2 |
IREB2 |
G |
C |
exonic |
nonsynonymous SNV |
IREB2:NM_001320942:exon5:c.G304C:p.V102L,IREB2:NM_001320943:exon5:c.G475C:p.V159L,IREB2:NM_004136:exon5:c.G475C:p.V159L |
|
15 |
78780104 |
2 |
IREB2 |
T |
C |
exonic |
nonsynonymous SNV |
IREB2:NM_001320941:exon13:c.T989C:p.I330T,IREB2:NM_001320942:exon14:c.T1568C:p.I523T,IREB2:NM_004136:exon14:c.T1739C:p.I580T |
RS2230940 |
Salmonella-induced pyroptosis |
|
15 |
78789488 |
1 |
IREB2 |
C |
T |
exonic |
synonymous SNV |
IREB2:NM_001320941:exon20:c.C1866T:p.A622A,IREB2:NM_001320942:exon21:c.C2445T:p.A815A,IREB2:NM_004136:exon21:c.C2616T:p.A872A |
RS13180 |
Gene expression of IREB2 [probe
1555476_at] in lymphoblastoid cell lines:Lung cancer:Lung cancer:Gene
expression of IREB2 [probe 3603336] in peripheral blood mononuclear
cells:Differential exon level expression of IREB2 [probe 3603377] in
peripheral blood mononuclear cells:Chronic obstructive pulmonary disease
(COPD):Lung cancer:Lung cancer:Lung function, ratio of forced expiratory
volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Chronic
obstructive pulmonary disease (COPD):Nicotine dependence (smoking),
cigarettes per day:Nicotine dependence (smoking), cigarettes per day:Gene
expression of IREB2 in peripheral blood monocytes:Total cholesterol:LDL
cholesterol:Triglycerides:Waist hip ratio:Gene expression of IREB2 in
blood:Gene expression of PSMA4 in blood:Chronic obstructive pulmonary disease
(COPD):Gene expression of IREB2 [probeset 1555476_at] in sputum:Chronic
obstructive pulmonary disease (COPD):Chronic obstructive pulmonary disease
(COPD):Sporadic Creutzfeldt-Jakob disease:Lung cancer |
|
15 |
78837262 |
1 |
PSMA4 |
G |
A |
exonic |
synonymous SNV |
PSMA4:NM_001102668:exon5:c.G126A:p.A42A,PSMA4:NM_001102667:exon6:c.G339A:p.A113A,PSMA4:NM_001330673:exon6:c.G339A:p.A113A,PSMA4:NM_001330675:exon6:c.G246A:p.A82A,PSMA4:NM_001330676:exon6:c.G339A:p.A113A,PSMA4:NM_002789:exon6:c.G339A:p.A113A |
|
15 |
78841220 |
1 |
PSMA4 |
T |
C |
exonic |
synonymous SNV |
PSMA4:NM_001102668:exon8:c.T507C:p.H169H,PSMA4:NM_001102667:exon9:c.T720C:p.H240H,PSMA4:NM_001330675:exon9:c.T627C:p.H209H,PSMA4:NM_001330676:exon9:c.T720C:p.H240H,PSMA4:NM_002789:exon9:c.T720C:p.H240H |
RS8053 |
Chronic obstructive pulmonary
disease (COPD):Methylation levels at chr15:76644004-76644054 [hg18 coord,
probe cg22563815] in Caudal pons:Salmonella-induced pyroptosis |
|
15 |
79217690 |
2 |
CTSH |
G |
C |
exonic |
synonymous SNV |
CTSH:NM_004390:exon10:c.C792G:p.T264T,CTSH:NM_001319137:exon11:c.C390G:p.T130T |
|
15 |
79237247 |
1 |
CTSH |
C |
G |
exonic |
nonsynonymous SNV |
CTSH:NM_004390:exon1:c.G77C:p.C26S |
RS1036938 |
Gene expression of CTSH in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CTSH in
lymphoblastoid cell lines:Triglycerides:HDL cholesterol:Cystatin C in
serum:Total cholesterol:Triglycerides:Systolic blood pressure (SBP):College
completion:Coronary artery disease (CAD) |
|
15 |
79603653 |
1 |
TMED3 |
C |
T |
exonic |
nonsynonymous SNV |
TMED3:NM_001301203:exon1:c.C62T:p.A21V,TMED3:NM_001330376:exon1:c.C62T:p.A21V,TMED3:NM_007364:exon1:c.C62T:p.A21V |
|
15 |
79606137 |
1 |
TMED3 |
G |
A |
exonic |
synonymous SNV |
TMED3:NM_001301203:exon2:c.G207A:p.V69V,TMED3:NM_001330376:exon2:c.G207A:p.V69V,TMED3:NM_007364:exon2:c.G207A:p.V69V |
|
15 |
79614418 |
2 |
TMED3 |
A |
G |
exonic |
synonymous SNV |
TMED3:NM_007364:exon3:c.A516G:p.A172A |
|
15 |
80191343 |
1 |
ST20 |
G |
A |
exonic |
nonsynonymous SNV |
ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L |
|
15 |
81212608 |
2 |
CEMIP |
G |
A |
exonic |
synonymous SNV |
CEMIP:NM_018689:exon14:c.G1971A:p.P657P,CEMIP:NM_001293298:exon15:c.G1971A:p.P657P,CEMIP:NM_001293304:exon15:c.G1971A:p.P657P |
|
15 |
82444437 |
2 |
EFL1 |
A |
G |
exonic |
synonymous SNV |
EFL1:NM_001040610:exon16:c.T2205C:p.G735G,EFL1:NM_001322844:exon17:c.T1569C:p.G523G,EFL1:NM_001322845:exon18:c.T2358C:p.G786G,EFL1:NM_024580:exon18:c.T2358C:p.G786G |
RS905450 |
HOMA-IR:Bipolar disorder:Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy) |
|
15 |
83680287 |
1 |
C15orf40 |
A |
G |
exonic |
nonsynonymous SNV |
C15orf40:NM_001160113:exon1:c.T73C:p.C25R,C15orf40:NM_001160114:exon1:c.T73C:p.C25R,C15orf40:NM_001160115:exon1:c.T73C:p.C25R,C15orf40:NM_001160116:exon1:c.T73C:p.C25R,C15orf40:NM_144597:exon1:c.T73C:p.C25R |
RS4842860 |
Gene expression of probe 240201_at
in lymphoblastoid cell lines:Triglycerides |
|
15 |
84842797 |
1 |
UBE2Q2L |
A |
C |
exonic |
nonsynonymous SNV |
UBE2Q2L:NM_001243531:exon2:c.A122C:p.D41A |
|
15 |
84842806 |
1 |
UBE2Q2L |
T |
C |
exonic |
nonsynonymous SNV |
UBE2Q2L:NM_001243531:exon2:c.T131C:p.M44T |
|
15 |
85163998 |
2 |
ZSCAN2 |
G |
C |
exonic |
nonsynonymous SNV |
ZSCAN2:NM_181877:exon3:c.G572C:p.S191T |
RS2044502 |
Gene expression change of SEC11A
(ENSG00000140612) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
15 |
85188775 |
1 |
WDR73 |
G |
A |
exonic |
synonymous SNV |
WDR73:NM_032856:exon7:c.C810T:p.S270S |
|
15 |
85188994 |
2 |
WDR73 |
T |
C |
exonic |
synonymous SNV |
WDR73:NM_032856:exon7:c.A591G:p.S197S |
|
15 |
85327606 |
1 |
ZNF592 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF592:NM_014630:exon4:c.T1700G:p.L567R |
|
15 |
85333953 |
1 |
ZNF592 |
A |
G |
exonic |
synonymous SNV |
ZNF592:NM_014630:exon5:c.A2238G:p.Q746Q |
RS2241645 |
Alzheimer's disease:Gene expression
of AC115102.7///SEC11B in blood:Gene expression of WDR73 in blood:Bipolar
disorder:Sporadic Creutzfeldt-Jakob disease:Years of
education:Salmonella-induced pyroptosis |
|
15 |
86122654 |
2 |
AKAP13 |
T |
C |
exonic |
nonsynonymous SNV |
AKAP13:NM_006738:exon7:c.T1355C:p.M452T,AKAP13:NM_007200:exon7:c.T1355C:p.M452T |
RS2061821 |
Plasma homocysteine:Homocysteine
levels:Gene expression of AKAP13 in blood:Age at death with kuru
exposure:Refractive error:College completion:Birth weight |
|
15 |
86123833 |
2 |
AKAP13 |
T |
C |
exonic |
nonsynonymous SNV |
AKAP13:NM_006738:exon7:c.T2534C:p.V845A,AKAP13:NM_007200:exon7:c.T2534C:p.V845A |
RS4075256 |
Gene expression of AKAP13 in
blood:Refractive error:Birth weight:College completion |
|
15 |
86123924 |
2 |
AKAP13 |
C |
T |
exonic |
synonymous SNV |
AKAP13:NM_006738:exon7:c.C2625T:p.P875P,AKAP13:NM_007200:exon7:c.C2625T:p.P875P |
|
15 |
86278309 |
1 |
AKAP13 |
G |
A |
exonic |
nonsynonymous SNV |
AKAP13:NM_001270546:exon23:c.G3232A:p.G1078S,AKAP13:NM_006738:exon31:c.G7381A:p.G2461S,AKAP13:NM_007200:exon31:c.G7369A:p.G2457S |
RS2241268 |
Differential exon level expression
of AKAP13 [probe 3606444] in brain cortex:Differential exon level expression
of AKAP13 [probe 3606457] in brain cortex:Differential exon level expression
of AKAP13 [probe 3606457] in peripheral blood mononuclear cells:Differential
exon level expression of AKAP13 [probe 3606397] in brain cortex:Differential
exon level expression of AKAP13 [probe 3606405] in brain cortex:Differential
exon level expression of AKAP13 [probe 3606453] in brain cortex:Gene
expression of AKAP13 [probe 3606304] in brain cortex:HDL cholesterol change
with statins:Autism:Gene expression of AKAP13 in blood:Diastolic blood
pressure (DBP):Refractive error |
|
15 |
86311695 |
1 |
KLHL25 |
G |
A |
exonic |
synonymous SNV |
KLHL25:NM_022480:exon2:c.C1347T:p.F449F |
RS1978391 |
Systemic lupus erythematosus
(SLE):Autism with low IQ:Diastolic blood pressure (DBP):Refractive error |
|
15 |
86312681 |
1 |
KLHL25 |
G |
A |
exonic |
synonymous SNV |
KLHL25:NM_022480:exon2:c.C361T:p.L121L |
|
15 |
89169614 |
1 |
AEN |
A |
G |
exonic |
synonymous SNV |
AEN:NM_022767:exon2:c.A174G:p.E58E |
RS3743476 |
Height |
|
15 |
89169703 |
1 |
AEN |
C |
G |
exonic |
nonsynonymous SNV |
AEN:NM_022767:exon2:c.C263G:p.S88C |
RS8026929 |
Chronic kidney disease |
|
15 |
89169858 |
2 |
AEN |
A |
G |
exonic |
nonsynonymous SNV |
AEN:NM_022767:exon2:c.A418G:p.N140D |
RS8027765 |
Hip bone mineral density
(BMD):Rheumatoid arthritis:Premature ovarian failure:HOMA-B:Cystatin C in
serum:Gene expression of ISG20L1 [probe ILMN_12401] in osteoblasts treated
with PGE2:Gene expression of ISG20 in blood:Gene expression of DET1 in
blood:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
15 |
89172558 |
2 |
AEN |
G |
C |
exonic |
synonymous SNV |
AEN:NM_022767:exon3:c.G642C:p.T214T |
RS3743475 |
Rheumatoid arthritis:Birth weight |
|
15 |
89195526 |
2 |
ISG20 |
A |
G |
exonic |
synonymous SNV |
ISG20:NM_001303235:exon2:c.A381G:p.L127L,ISG20:NM_001303233:exon3:c.A414G:p.L138L,ISG20:NM_001303236:exon3:c.A381G:p.L127L,ISG20:NM_001303237:exon3:c.A354G:p.L118L,ISG20:NM_002201:exon3:c.A414G:p.L138L,ISG20:NM_001303234:exon4:c.A414G:p.L138L |
|
15 |
89450546 |
2 |
MFGE8 |
C |
T |
exonic |
synonymous SNV |
MFGE8:NM_001310319:exon2:c.G135A:p.S45S,MFGE8:NM_001114614:exon3:c.G267A:p.S89S,MFGE8:NM_005928:exon3:c.G267A:p.S89S,MFGE8:NM_001310320:exon4:c.G243A:p.S81S |
|
15 |
89450587 |
2 |
MFGE8 |
G |
T |
exonic |
nonsynonymous SNV |
MFGE8:NM_001310319:exon2:c.C94A:p.L32M,MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M,MFGE8:NM_001310320:exon4:c.C202A:p.L68M |
RS1878326 |
Hip bone mineral density
(BMD):Schizophrenia:Cystatin C in serum:Height:Late onset Alzheimer's
disease:Paternal transmission distortion:Gene expression of MFGE8 (probeID
ILMN_1756071) in temporal cortex in Alzheimer's disease cases and controls |
|
15 |
89836228 |
1 |
FANCI |
G |
C |
exonic |
nonsynonymous SNV |
FANCI:NM_001113378:exon22:c.G2225C:p.C742S,FANCI:NM_018193:exon22:c.G2225C:p.C742S |
RS2283432 |
Tardive dyskinesia:Height:Advanced
age-related macular degeneration:Birth weight |
|
15 |
89838236 |
2 |
FANCI |
G |
A |
exonic |
synonymous SNV |
FANCI:NM_001113378:exon24:c.G2547A:p.K849K |
|
15 |
89858602 |
1 |
FANCI |
T |
C |
exonic |
synonymous SNV |
FANCI:NM_018193:exon36:c.T3726C:p.G1242G,FANCI:NM_001113378:exon37:c.T3906C:p.G1302G |
RS1138465 |
Height:Gene expression of POLG in
blood:Birth weight |
|
15 |
90126121 |
1 |
TICRR |
C |
T |
exonic |
nonsynonymous SNV |
TICRR:NM_001308025:exon2:c.C859T:p.R287C,TICRR:NM_152259:exon2:c.C859T:p.R287C |
RS10775247 |
Gene expression of C15orf42 [probe
232475_at] in lymphoblastoid cell lines:Late onset Alzheimer's disease:Gene
expression of MESP1 in blood |
|
15 |
90138670 |
2 |
TICRR |
C |
T |
exonic |
synonymous SNV |
TICRR:NM_001308025:exon7:c.C1725T:p.C575C,TICRR:NM_152259:exon7:c.C1728T:p.C576C |
RS8042146 |
HDL cholesterol |
|
15 |
90168108 |
2 |
TICRR |
C |
T |
exonic |
nonsynonymous SNV |
TICRR:NM_001308025:exon20:c.C4564T:p.R1522C,TICRR:NM_152259:exon20:c.C4567T:p.R1523C |
RS894157 |
Gene expression of ZNF238 in
peripheral blood monocytes:Gene expression of MESP1 in peripheral blood
monocytes:Gene expression of MESP1 in blood:Gene expression of ANPEP in
blood:Fasting serum IGF-1 free (ng/mL) in children:Primary rhegmatogenous
retinal detachment |
|
15 |
90168693 |
1 |
TICRR |
T |
A |
exonic |
nonsynonymous SNV |
TICRR:NM_001308025:exon20:c.T5149A:p.S1717T,TICRR:NM_152259:exon20:c.T5152A:p.S1718T |
RS1866928 |
Gene expression of C15orf42 [probe
232475_at] in lymphoblastoid cell lines |
|
15 |
90170237 |
1 |
TICRR |
C |
T |
exonic |
nonsynonymous SNV |
TICRR:NM_001308025:exon22:c.C5650T:p.R1884C,TICRR:NM_152259:exon22:c.C5653T:p.R1885C |
RS3743372 |
Gene expression of C15orf42 [probe
232475_at] in lymphoblastoid cell lines |
|
15 |
90226947 |
2 |
PEX11A |
C |
A |
exonic |
synonymous SNV |
PEX11A:NM_001271572:exon3:c.G312T:p.L104L,PEX11A:NM_003847:exon3:c.G405T:p.L135L |
RS7169981 |
Obesity with early age of onset (age
>2) |
|
15 |
90334240 |
1 |
ANPEP |
A |
G |
exonic |
synonymous SNV |
ANPEP:NM_001150:exon19:c.T2613C:p.I871I |
RS25654 |
Cystatin C in serum:Gene expression
of MESP1 in peripheral blood
monocytes:2-Hydroxyisobutyrate:Threonine:Threonine:tau-Methylhistidine |
|
15 |
90335534 |
1 |
ANPEP |
G |
A |
exonic |
synonymous SNV |
ANPEP:NM_001150:exon18:c.C2385T:p.T795T |
RS25652 |
HOMA-B:Total cholesterol |
|
15 |
90349558 |
1 |
ANPEP |
C |
T |
exonic |
nonsynonymous SNV |
ANPEP:NM_001150:exon2:c.G257A:p.R86Q |
RS25653 |
Triglycerides:Height:Comorbid
depressive syndrome and alcohol dependence:Resistance to kuru in aged women
despite likely exposure |
|
15 |
90610807 |
1 |
ZNF710 |
C |
A |
exonic |
synonymous SNV |
ZNF710:NM_198526:exon2:c.C438A:p.G146G |
|
15 |
90623052 |
2 |
ZNF710 |
T |
C |
exonic |
synonymous SNV |
ZNF710:NM_198526:exon5:c.T1986C:p.N662N |
RS2970357 |
Response to Lithium Treatment for
Bipolar disorder:Autism without verbal ability:Height:Urinary
albumin-to-creatinine ratio:Parkinson's disease |
|
15 |
90768959 |
1 |
SEMA4B |
A |
C |
exonic |
synonymous SNV |
SEMA4B:NM_001324029:exon11:c.A1174C:p.R392R,SEMA4B:NM_001324030:exon12:c.A1120C:p.R374R,SEMA4B:NM_001324032:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324034:exon12:c.A1618C:p.R540R,SEMA4B:NM_198925:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324031:exon13:c.A1747C:p.R583R,SEMA4B:NM_001324033:exon13:c.A1120C:p.R374R,SEMA4B:NM_020210:exon13:c.A1588C:p.R530R |
|
15 |
90771750 |
2 |
SEMA4B |
T |
G |
exonic |
nonsynonymous SNV |
SEMA4B:NM_001324029:exon13:c.T1975G:p.S659A,SEMA4B:NM_001324030:exon14:c.T1921G:p.S641A,SEMA4B:NM_001324034:exon14:c.T2419G:p.S807A,SEMA4B:NM_198925:exon14:c.T2389G:p.S797A,SEMA4B:NM_001324031:exon15:c.T2548G:p.S850A,SEMA4B:NM_001324033:exon15:c.T1921G:p.S641A,SEMA4B:NM_020210:exon15:c.T2389G:p.S797A |
RS3751655 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
15 |
90784207 |
2 |
GDPGP1 |
A |
G |
exonic |
nonsynonymous SNV |
GDPGP1:NM_001013657:exon4:c.A67G:p.R23G,GDPGP1:NM_001322811:exon5:c.A67G:p.R23G |
|
15 |
91083353 |
2 |
CRTC3 |
G |
A |
exonic |
nonsynonymous SNV |
CRTC3:NM_001042574:exon2:c.G215A:p.S72N,CRTC3:NM_022769:exon2:c.G215A:p.S72N |
RS8033595 |
Stabilized warfarin dose:HDL
cholesterol:HDL cholesterol change with statins:Triglycerides change with
statins:Microalbuminuria:Gene expression of IQGAP1 in blood:Gene expression
of ZNF774 in normal prepouch ileum:Mitral annular calcium |
|
15 |
91337479 |
1 |
BLM |
G |
A |
exonic |
synonymous SNV |
BLM:NM_000057:exon16:c.G3102A:p.T1034T,BLM:NM_001287247:exon16:c.G3102A:p.T1034T,BLM:NM_001287248:exon16:c.G1977A:p.T659T,BLM:NM_001287246:exon17:c.G3102A:p.T1034T |
|
15 |
91424574 |
2 |
FURIN |
G |
C |
exonic |
synonymous SNV |
FURIN:NM_001289823:exon16:c.G1851C:p.G617G,FURIN:NM_001289824:exon16:c.G1851C:p.G617G,FURIN:NM_002569:exon16:c.G1851C:p.G617G |
RS6226 |
Gene expression of MAN2A2
(ENSG00000196547) in dendritic cells treated with Mycobacterium tuberculosis |
|
15 |
91424752 |
1 |
FURIN |
C |
T |
exonic |
nonsynonymous SNV |
FURIN:NM_001289823:exon16:c.C2029T:p.R677W,FURIN:NM_001289824:exon16:c.C2029T:p.R677W,FURIN:NM_002569:exon16:c.C2029T:p.R677W |
|
15 |
91449654 |
1 |
MAN2A2 |
T |
C |
exonic |
synonymous SNV |
MAN2A2:NM_006122:exon6:c.T762C:p.D254D,MAN2A2:NM_001320977:exon7:c.T762C:p.D254D |
RS2072077 |
HIV-1 disease progression:Comorbid
depressive syndrome and alcohol dependence |
|
15 |
91449702 |
1 |
MAN2A2 |
A |
T |
exonic |
synonymous SNV |
MAN2A2:NM_006122:exon6:c.A810T:p.G270G,MAN2A2:NM_001320977:exon7:c.A810T:p.G270G |
|
15 |
91452595 |
2 |
MAN2A2 |
A |
G |
exonic |
nonsynonymous SNV |
MAN2A2:NM_006122:exon9:c.A1235G:p.Q412R,MAN2A2:NM_001320977:exon10:c.A1235G:p.Q412R |
RS2106673 |
Cystatin C in serum:Gene expression
of RCCD1 in CD4+ lymphocytes:Height:Gene expression of UNC45A in blood:Gene
expression of MAN2A2 in blood:Gene expression of RCCD1 in blood:Gene
expression of HDDC3///UNC45A in blood:Gene expression of UNC45A (probeID ILMN_2395932)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
MAN2A2 in normal prepouch ileum:Gene expression of UNC45A (probeID
ILMN_2395932) in cerebellum in Alzheimer's disease cases:Gene expression of
UNC45A (probeID ILMN_2395932) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in
non-Alzheimer's disease samples:Gene expression of HDDC3 in normal prepouch
ileum |
|
15 |
91489919 |
1 |
UNC45A |
A |
G |
exonic |
synonymous SNV |
UNC45A:NM_001323620:exon10:c.A840G:p.P280P,UNC45A:NM_001323621:exon10:c.A1230G:p.P410P,UNC45A:NM_018671:exon10:c.A1275G:p.P425P,UNC45A:NM_001323619:exon11:c.A1275G:p.P425P,UNC45A:NM_001039675:exon13:c.A1230G:p.P410P |
RS12911432 |
HDL cholesterol:Gene expression of
RCCD1 [transcript NM_033544, probe A_23_P106433] in liver |
|
15 |
91524841 |
2 |
PRC1 |
G |
T |
exonic |
nonsynonymous SNV |
PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E |
|
15 |
91525197 |
1 |
PRC1 |
C |
T |
exonic |
synonymous SNV |
PRC1:NM_001267580:exon3:c.G159A:p.T53T,PRC1:NM_003981:exon4:c.G282A:p.T94T,PRC1:NM_199413:exon4:c.G282A:p.T94T |
RS2301826 |
Spine bone mineral density
(BMD):Schizophrenia:LDL cholesterol change with statins:Gene expression of
RCCD1 in peripheral blood monocytes:Gene expression of UNC45A in peripheral
blood monocytes:HDL cholesterol:Total cholesterol:Gene expression of RCCD1 in
CD4+ lymphocytes:Gene expression of RCCD1 in blood:Gene expression of VPS33B
in blood:Type 2 diabetes:Tetrology of fallot |
|
15 |
91543761 |
1 |
VPS33B |
C |
T |
exonic |
nonsynonymous SNV |
VPS33B:NM_001289148:exon19:c.G1459A:p.G487S,VPS33B:NM_001289149:exon19:c.G1267A:p.G423S,VPS33B:NM_018668:exon20:c.G1540A:p.G514S |
RS11073964 |
LDL cholesterol change with
statins:HDL cholesterol:Gene expression of RCCD1 in peripheral blood
monocytes:Aortic valve calcium |
|
15 |
93510603 |
2 |
CHD2 |
A |
G |
exonic |
synonymous SNV |
CHD2:NM_001271:exon17:c.A2049G:p.E683E |
RS4777755 |
Total cholesterol change with
statins:Rheumatoid arthritis:Total cholesterol:College completion |
|
15 |
93536197 |
1 |
CHD2 |
C |
T |
exonic |
synonymous SNV |
CHD2:NM_001271:exon28:c.C3564T:p.Y1188Y |
RS2272457 |
Tetrology of fallot:Transmission
distortion |
|
15 |
98504100 |
1 |
ARRDC4 |
G |
C |
exonic |
synonymous SNV |
ARRDC4:NM_183376:exon1:c.G9C:p.G3G |
|
15 |
99901629 |
1 |
LRRC28 |
G |
A |
exonic |
nonsynonymous SNV |
LRRC28:NM_001321677:exon7:c.G577A:p.A193T,LRRC28:NM_001321679:exon7:c.G322A:p.A108T,LRRC28:NM_001321680:exon7:c.G322A:p.A108T,LRRC28:NM_001284400:exon8:c.G784A:p.A262T,LRRC28:NM_001321675:exon8:c.G784A:p.A262T,LRRC28:NM_001321678:exon8:c.G649A:p.A217T,LRRC28:NM_144598:exon8:c.G784A:p.A262T,LRRC28:NM_001321676:exon9:c.G772A:p.A258T |
|
15 |
100252805 |
1 |
MEF2A |
G |
T |
exonic |
synonymous SNV |
MEF2A:NM_001130928:exon8:c.G1119T:p.G373G,MEF2A:NM_001130926:exon10:c.G1323T:p.G441G,MEF2A:NM_001130927:exon10:c.G1143T:p.G381G,MEF2A:NM_005587:exon11:c.G1329T:p.G443G,MEF2A:NM_001171894:exon12:c.G1323T:p.G441G,MEF2A:NM_001319206:exon12:c.G1347T:p.G449G |
|
15 |
100269796 |
1 |
LYSMD4 |
A |
G |
exonic |
synonymous SNV |
LYSMD4:NM_001284420:exon2:c.T240C:p.S80S,LYSMD4:NM_001284417:exon3:c.T423C:p.S141S,LYSMD4:NM_001284418:exon3:c.T423C:p.S141S,LYSMD4:NM_001284421:exon4:c.T45C:p.S15S,LYSMD4:NM_001284419:exon5:c.T411C:p.S137S,LYSMD4:NM_001284422:exon5:c.T45C:p.S15S,LYSMD4:NM_152449:exon6:c.T426C:p.S142S |
|
15 |
101109677 |
1 |
LINS1 |
C |
A |
exonic |
nonsynonymous SNV |
LINS1:NM_001040616:exon7:c.G2040T:p.R680S |
RS8451 |
Chemosensitivity to targeted
regimes in metastatic colorectal cancer
(Bevacizumab+5-FU/leucovorin+oxaliplatin regime) |
|
15 |
101109818 |
2 |
LINS1 |
G |
A |
exonic |
synonymous SNV |
LINS1:NM_001040616:exon7:c.C1899T:p.D633D |
RS12460 |
Gene expression of LINS1 [probe
231976_at] in lymphoblastoid cell lines:Gene expression of LINS1 [probe
220121_at] in lymphoblastoid cell lines:Gene expression of LINS1 [probe
228348_at] in lymphoblastoid cell lines:Gene expression of PRKXP1 [probe
235987_at] in lymphoblastoid cell lines:Gene expression of PRKXP1 in
lymphoblastoid cell lines:Gene expression of PRKXP1 in liver:Differential
exon level expression of LINS1 [probe 3641887] in brain cortex:Gene
expression of PRKXP1 [transcript ID 3641823] in brain cortex:Gene expression
of PRKXP1 [transcript ID 3641823] in peripheral blood mononuclear cells:HDL
cholesterol:Gene expression of LINS1 in peripheral blood monocytes:Gene
expression of LINS1 in CD4+ lymphocytes:Waist hip ratio:Gene expression of LINS1
[probeset 231976_at] in sputum:Gene expression of LINS1 [probeset 220121_at]
in sputum:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of LINS in normal prepouch ileum:Tetrology of fallot |
|
15 |
101109893 |
1 |
LINS1 |
C |
A |
exonic |
synonymous SNV |
LINS1:NM_001040616:exon7:c.G1824T:p.G608G |
|
15 |
101110265 |
1 |
LINS1 |
T |
A |
exonic |
synonymous SNV |
LINS1:NM_001040616:exon7:c.A1452T:p.T484T |
RS2411836 |
Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy) |
|
15 |
101717680 |
1 |
CHSY1 |
G |
T |
exonic |
synonymous SNV |
CHSY1:NM_014918:exon3:c.C2322A:p.T774T |
RS8024370 |
Body mass index (BMI):Mitral annular
calcium |
|
15 |
101718097 |
1 |
CHSY1 |
C |
G |
exonic |
synonymous SNV |
CHSY1:NM_014918:exon3:c.G1905C:p.V635V |
|
15 |
101835306 |
1 |
SNRPA1 |
G |
C |
exonic |
synonymous SNV |
SNRPA1:NM_003090:exon1:c.C78G:p.L26L |
|
15 |
101910550 |
1 |
PCSK6 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS20543 |
Chronic kidney disease:Gene
expression of PCSK6 in peripheral blood monocytes:Triglycerides:Diastolic
blood pressure (DBP):Mitral annular calcium |
|
15 |
101924546 |
1 |
PCSK6 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS1135911 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:LDL cholesterol:Body mass index (BMI) |
|
15 |
102029597 |
1 |
PCSK6 |
C |
G |
exonic |
unknown |
UNKNOWN |
|
15 |
102192548 |
2 |
TM2D3 |
A |
C |
exonic |
nonsynonymous SNV |
TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R,TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R |
|
15 |
102264476 |
2 |
TARSL2 |
C |
A |
exonic |
nonsynonymous SNV |
TARSL2:NM_152334:exon1:c.G115T:p.A39S |
|
15 |
105278361 |
2 |
|
16 |
103517 |
2 |
POLR3K |
A |
C |
exonic |
nonsynonymous SNV |
POLR3K:NM_016310:exon1:c.T70G:p.S24A |
|
16 |
396264 |
2 |
AXIN1 |
A |
G |
exonic |
synonymous SNV |
AXIN1:NM_003502:exon2:c.T762C:p.D254D,AXIN1:NM_181050:exon2:c.T762C:p.D254D |
RS1805105 |
HDL cholesterol change with
statins:Rheumatoid arthritis:Microalbuminuria:Refractive error |
|
16 |
426432 |
2 |
TMEM8A |
T |
C |
exonic |
nonsynonymous SNV |
TMEM8A:NM_021259:exon6:c.A928G:p.I310V |
RS2071915 |
Gene expression of TMEM8 [probe
222718_at] in lymphoblastoid cell lines:HDL cholesterol:Differential exon
level expression of TMEM8 [probe 3675124] in peripheral blood mononuclear
cells:Differential exon level expression of TMEM8 [probe 3675130] in peripheral
blood mononuclear cells:Differential exon level expression of TMEM8 [probe
3675139] in peripheral blood mononuclear cells:Differential exon level
expression of TMEM8 [probe 3675121] in peripheral blood mononuclear
cells:Differential exon level expression of TMEM8 [probe 3675138] in
peripheral blood mononuclear cells:Differential exon level expression of
TMEM8 [probe 3675129] in peripheral blood mononuclear cells:Differential exon
level expression of MRPL28 [probe 3675109] in peripheral blood mononuclear
cells:Differential exon level expression of TMEM8 [probe 3675119] in
peripheral blood mononuclear cells:Differential exon level expression of
TMEM8 [probe 3675137] in peripheral blood mononuclear cells:Gene expression
of TMEM8 [probe 3675116] in peripheral blood mononuclear cells:Differential
exon level expression of TMEM8 [probe 3675136] in peripheral blood
mononuclear cells:Differential exon level expression of TMEM8 [probe 3675125]
in peripheral blood mononuclear cells:Differential exon level expression of
TMEM8 [probe 3675140] in peripheral blood mononuclear cells:Differential exon
level expression of TMEM8 [probe 3675122] in peripheral blood mononuclear
cells:Differential exon level expression of MRPL28 [probe 3675109] in brain
cortex:Differential exon level expression of TMEM8 [probe 3675133] in
peripheral blood mononuclear cells:Rheumatoid arthritis:Methylation levels at
chr16:360063-360113 [hg18 coord, probe cg12437481] in Frontal
cortex:Methylation levels at chr16:360063-360113 [hg18 coord, probe
cg12437481] in Temporal cortex:Methylation levels at chr16:360063-360113
[hg18 coord, probe cg12437481] in Caudal pons:Gene expression of TMEM8 in
Frontal cortex:Gene expression of TMEM8 in Temporal cortex:Gene expression of
TMEM8 in CD4+ lymphocytes:Gene expression of TMEM8A [probeset 221882_s_at] in
sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMEM8A in normal
prepouch ileum:Parkinson's disease:Refractive error |
|
16 |
427479 |
2 |
TMEM8A |
T |
C |
exonic |
nonsynonymous SNV |
TMEM8A:NM_021259:exon3:c.A406G:p.T136A |
RS11248931 |
Gene expression of MRPL28
(ENSG00000086504) in dendritic cells:Gene expression of TMEM8A in normal
prepouch ileum |
|
16 |
427516 |
2 |
TMEM8A |
T |
C |
exonic |
synonymous SNV |
TMEM8A:NM_021259:exon3:c.A369G:p.V123V |
|
16 |
427784 |
2 |
TMEM8A |
G |
A |
exonic |
synonymous SNV |
TMEM8A:NM_021259:exon2:c.C186T:p.Y62Y |
RS11641742 |
Gene expression of TMEM8 [probe
222718_at] in lymphoblastoid cell lines:HDL cholesterol:Rheumatoid
arthritis:Methylation levels at chr16:360063-360113 [hg18 coord, probe
cg12437481] in Temporal cortex:Methylation levels at chr16:360063-360113
[hg18 coord, probe cg12437481] in Caudal pons:Methylation levels at
chr16:360063-360113 [hg18 coord, probe cg12437481] in Frontal cortex:Gene
expression of TMEM8 in Frontal cortex:Gene expression of TMEM8 in Temporal
cortex:Parkinson's disease:Refractive error:Gene expression of TMEM8A in
normal prepouch ileum:Infant head circumference |
|
16 |
427820 |
2 |
TMEM8A |
C |
T |
exonic |
synonymous SNV |
TMEM8A:NM_021259:exon2:c.G150A:p.S50S |
|
16 |
601632 |
2 |
CAPN15 |
T |
C |
exonic |
synonymous SNV |
CAPN15:NM_005632:exon9:c.T2313C:p.G771G |
RS3213574 |
HDL cholesterol change with
statins:Refractive error |
|
16 |
602313 |
2 |
CAPN15 |
C |
A |
exonic |
synonymous SNV |
CAPN15:NM_005632:exon11:c.C2520A:p.A840A |
|
16 |
718514 |
2 |
RHOT2 |
C |
G |
exonic |
synonymous SNV |
RHOT2:NM_138769:exon3:c.C123G:p.T41T |
|
16 |
839262 |
2 |
CHTF18 |
A |
G |
exonic |
synonymous SNV |
CHTF18:NM_022092:exon3:c.A339G:p.R113R |
|
16 |
1129912 |
2 |
SSTR5 |
A |
G |
exonic |
synonymous SNV |
SSTR5:NM_001053:exon1:c.A1044G:p.P348P,SSTR5:NM_001172560:exon2:c.A1044G:p.P348P |
|
16 |
1270349 |
2 |
CACNA1H |
T |
C |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon34:c.T6399C:p.D2133D,CACNA1H:NM_021098:exon35:c.T6417C:p.D2139D |
|
16 |
1484473 |
2 |
CCDC154 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC154:NM_001143980:exon17:c.T1940C:p.L647P |
|
16 |
1545448 |
2 |
TELO2 |
A |
G |
exonic |
nonsynonymous SNV |
TELO2:NM_016111:exon3:c.A437G:p.Q146R |
RS2235624 |
Fasting insulin:HOMA-IR:HOMA-B |
|
16 |
1608082 |
2 |
IFT140 |
A |
G |
exonic |
synonymous SNV |
IFT140:NM_014714:exon19:c.T2253C:p.P751P |
RS2076436 |
Total cholesterol:LDL
cholesterol:Refractive error |
|
16 |
1827836 |
2 |
SPSB3 |
T |
C |
exonic |
synonymous SNV |
SPSB3:NM_001324081:exon6:c.A633G:p.S211S,SPSB3:NM_080861:exon6:c.A633G:p.S211S |
RS1178432 |
2 hour glucose:Fasting blood
glucose:Serum creatinine |
|
16 |
1838640 |
2 |
NUBP2 |
T |
C |
exonic |
nonsynonymous SNV |
NUBP2:NM_001284502:exon6:c.T295C:p.W99R |
RS344359 |
Left ventricular systolic
dysfunction (LV systolic dysfunction):2 hour glucose:Fasting blood
glucose:Methylation levels at chr16:1849715-1849765 [hg18 coord, probe
cg14074117] in Cerebellum |
|
16 |
1877698 |
2 |
FAHD1 |
C |
G |
exonic |
synonymous SNV |
FAHD1:NM_001018104:exon1:c.C468G:p.L156L,FAHD1:NM_001142398:exon1:c.C468G:p.L156L,FAHD1:NM_031208:exon1:c.C468G:p.L156L |
RS3743852 |
Triglycerides:LDL cholesterol:Total
cholesterol:Cystatin C in serum:Methylation levels at chr16:1762290-1762340
[hg18 coord, probe cg19030554] in Temporal
cortex:Triglycerides:Height:Advanced age-related macular degeneration
(geographic atrophy) |
|
16 |
2059674 |
2 |
ZNF598 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF598:NM_178167:exon2:c.A74G:p.E25G |
|
16 |
2147972 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon31:c.C10064T:p.P3355L,PKD1:NM_001009944:exon31:c.C10064T:p.P3355L |
|
16 |
2149876 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon29:c.C9909T:p.G3303G,PKD1:NM_001009944:exon29:c.C9909T:p.G3303G |
|
16 |
2149965 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon29:c.C9820T:p.R3274C,PKD1:NM_001009944:exon29:c.C9820T:p.R3274C |
|
16 |
2149975 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon29:c.G9810A:p.P3270P,PKD1:NM_001009944:exon29:c.G9810A:p.P3270P |
|
16 |
2150473 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon27:c.C9492T:p.S3164S,PKD1:NM_001009944:exon27:c.C9492T:p.S3164S |
|
16 |
2150500 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon27:c.C9465T:p.D3155D,PKD1:NM_001009944:exon27:c.C9465T:p.D3155D |
|
16 |
2152129 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon26:c.T9330C:p.P3110P,PKD1:NM_001009944:exon26:c.T9330C:p.P3110P |
|
16 |
2152171 |
1 |
PKD1 |
G |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon26:c.C9288G:p.H3096Q,PKD1:NM_001009944:exon26:c.C9288G:p.H3096Q |
|
16 |
2152399 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon25:c.G9184A:p.V3062I,PKD1:NM_001009944:exon25:c.G9184A:p.V3062I |
|
16 |
2152426 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon25:c.G9157A:p.A3053T,PKD1:NM_001009944:exon25:c.G9157A:p.A3053T |
|
16 |
2153308 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon23:c.C8750T:p.A2917V,PKD1:NM_001009944:exon23:c.C8750T:p.A2917V |
|
16 |
2153714 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon23:c.G8344A:p.V2782M,PKD1:NM_001009944:exon23:c.G8344A:p.V2782M |
|
16 |
2153733 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon23:c.G8325A:p.T2775T,PKD1:NM_001009944:exon23:c.G8325A:p.T2775T |
|
16 |
2153738 |
1 |
PKD1 |
G |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon23:c.C8320G:p.L2774V,PKD1:NM_001009944:exon23:c.C8320G:p.L2774V |
|
16 |
2153767 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon23:c.T8291C:p.M2764T,PKD1:NM_001009944:exon23:c.T8291C:p.M2764T |
|
16 |
2156430 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon18:c.C7458T:p.A2486A,PKD1:NM_001009944:exon18:c.C7458T:p.A2486A |
|
16 |
2156470 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon18:c.G7418A:p.G2473E,PKD1:NM_001009944:exon18:c.G7418A:p.G2473E |
|
16 |
2157929 |
1 |
PKD1 |
C |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon16:c.G7020C:p.L2340L,PKD1:NM_001009944:exon16:c.G7020C:p.L2340L |
|
16 |
2157956 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon16:c.G6993A:p.A2331A,PKD1:NM_001009944:exon16:c.G6993A:p.A2331A |
|
16 |
2157965 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon16:c.G6984A:p.E2328E,PKD1:NM_001009944:exon16:c.G6984A:p.E2328E |
|
16 |
2158304 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6864T:p.D2288D,PKD1:NM_001009944:exon15:c.C6864T:p.D2288D |
|
16 |
2158353 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G6815A:p.R2272Q,PKD1:NM_001009944:exon15:c.G6815A:p.R2272Q |
|
16 |
2158376 |
1 |
PKD1 |
T |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.A6792C:p.S2264S,PKD1:NM_001009944:exon15:c.A6792C:p.S2264S |
|
16 |
2158409 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6759T:p.P2253P,PKD1:NM_001009944:exon15:c.C6759T:p.P2253P |
|
16 |
2158440 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A6728G:p.Q2243R,PKD1:NM_001009944:exon15:c.A6728G:p.Q2243R |
|
16 |
2158444 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A6724G:p.T2242A,PKD1:NM_001009944:exon15:c.A6724G:p.T2242A |
|
16 |
2158510 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C6658T:p.R2220W,PKD1:NM_001009944:exon15:c.C6658T:p.R2220W |
|
16 |
2158524 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G6644A:p.R2215Q,PKD1:NM_001009944:exon15:c.G6644A:p.R2215Q |
|
16 |
2158565 |
1 |
PKD1 |
T |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.A6603G:p.P2201P,PKD1:NM_001009944:exon15:c.A6603G:p.P2201P |
|
16 |
2158598 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T6570C:p.Y2190Y,PKD1:NM_001009944:exon15:c.T6570C:p.Y2190Y |
|
16 |
2158634 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6534T:p.C2178C,PKD1:NM_001009944:exon15:c.C6534T:p.C2178C |
|
16 |
2158682 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G6486A:p.R2162R,PKD1:NM_001009944:exon15:c.G6486A:p.R2162R |
|
16 |
2158772 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6396T:p.F2132F,PKD1:NM_001009944:exon15:c.C6396T:p.F2132F |
|
16 |
2158868 |
1 |
PKD1 |
C |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G6300C:p.S2100S,PKD1:NM_001009944:exon15:c.G6300C:p.S2100S |
|
16 |
2158901 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T6267C:p.R2089R,PKD1:NM_001009944:exon15:c.T6267C:p.R2089R |
|
16 |
2158967 |
1 |
PKD1 |
C |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G6201C:p.Q2067H,PKD1:NM_001009944:exon15:c.G6201C:p.Q2067H |
|
16 |
2158968 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A6200G:p.Q2067R,PKD1:NM_001009944:exon15:c.A6200G:p.Q2067R |
|
16 |
2159045 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6123T:p.R2041R,PKD1:NM_001009944:exon15:c.C6123T:p.R2041R |
|
16 |
2159211 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C5957T:p.T1986M,PKD1:NM_001009944:exon15:c.C5957T:p.T1986M |
|
16 |
2159228 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C5940T:p.C1980C,PKD1:NM_001009944:exon15:c.C5940T:p.C1980C |
|
16 |
2159252 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T5916C:p.S1972S,PKD1:NM_001009944:exon15:c.T5916C:p.S1972S |
|
16 |
2159316 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G5852A:p.R1951Q,PKD1:NM_001009944:exon15:c.G5852A:p.R1951Q |
|
16 |
2159341 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G5827A:p.V1943I,PKD1:NM_001009944:exon15:c.G5827A:p.V1943I |
|
16 |
2159456 |
1 |
PKD1 |
C |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G5712T:p.L1904L,PKD1:NM_001009944:exon15:c.G5712T:p.L1904L |
|
16 |
2159520 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C5648T:p.A1883V,PKD1:NM_001009944:exon15:c.C5648T:p.A1883V |
|
16 |
2159732 |
1 |
PKD1 |
G |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C5436G:p.P1812P,PKD1:NM_001009944:exon15:c.C5436G:p.P1812P |
|
16 |
2159861 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T5307C:p.H1769H,PKD1:NM_001009944:exon15:c.T5307C:p.H1769H |
|
16 |
2159881 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T5287C:p.S1763P,PKD1:NM_001009944:exon15:c.T5287C:p.S1763P |
|
16 |
2160034 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A5134G:p.M1712V,PKD1:NM_001009944:exon15:c.A5134G:p.M1712V |
|
16 |
2160044 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C5124T:p.A1708A,PKD1:NM_001009944:exon15:c.C5124T:p.A1708A |
|
16 |
2160222 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C4946T:p.T1649M,PKD1:NM_001009944:exon15:c.C4946T:p.T1649M |
|
16 |
2160332 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G4836A:p.T1612T,PKD1:NM_001009944:exon15:c.G4836A:p.T1612T |
|
16 |
2160394 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C4774T:p.P1592S,PKD1:NM_001009944:exon15:c.C4774T:p.P1592S |
|
16 |
2160458 |
1 |
PKD1 |
C |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G4710C:p.T1570T,PKD1:NM_001009944:exon15:c.G4710C:p.T1570T |
|
16 |
2160472 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G4696A:p.V1566M,PKD1:NM_001009944:exon15:c.G4696A:p.V1566M |
|
16 |
2160578 |
1 |
PKD1 |
C |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G4590C:p.W1530C,PKD1:NM_001009944:exon15:c.G4590C:p.W1530C |
|
16 |
2160649 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T4519C:p.W1507R,PKD1:NM_001009944:exon15:c.T4519C:p.W1507R |
|
16 |
2160812 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T4356C:p.S1452S,PKD1:NM_001009944:exon15:c.T4356C:p.S1452S |
|
16 |
2160973 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T4195C:p.W1399R,PKD1:NM_001009944:exon15:c.T4195C:p.W1399R |
|
16 |
2161115 |
1 |
PKD1 |
C |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G4053T:p.R1351R,PKD1:NM_001009944:exon15:c.G4053T:p.R1351R |
|
16 |
2161178 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C3990T:p.F1330F,PKD1:NM_001009944:exon15:c.C3990T:p.F1330F |
|
16 |
2161200 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A3968G:p.H1323R,PKD1:NM_001009944:exon15:c.A3968G:p.H1323R |
|
16 |
2161247 |
1 |
PKD1 |
C |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G3921T:p.T1307T,PKD1:NM_001009944:exon15:c.G3921T:p.T1307T |
|
16 |
2161268 |
1 |
PKD1 |
T |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.A3900G:p.E1300E,PKD1:NM_001009944:exon15:c.A3900G:p.E1300E |
|
16 |
2161394 |
1 |
PKD1 |
T |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.A3774C:p.A1258A,PKD1:NM_001009944:exon15:c.A3774C:p.A1258A |
|
16 |
2161400 |
1 |
PKD1 |
C |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.G3768A:p.P1256P,PKD1:NM_001009944:exon15:c.G3768A:p.P1256P |
|
16 |
2161472 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C3696T:p.S1232S,PKD1:NM_001009944:exon15:c.C3696T:p.S1232S |
|
16 |
2161526 |
1 |
PKD1 |
T |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.A3642G:p.G1214G,PKD1:NM_001009944:exon15:c.A3642G:p.G1214G |
|
16 |
2161611 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C3557T:p.T1186I,PKD1:NM_001009944:exon15:c.C3557T:p.T1186I |
|
16 |
2161624 |
1 |
PKD1 |
C |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G3544C:p.A1182P,PKD1:NM_001009944:exon15:c.G3544C:p.A1182P |
|
16 |
2161719 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C3449T:p.P1150L,PKD1:NM_001009944:exon15:c.C3449T:p.P1150L |
|
16 |
2161721 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C3447T:p.H1149H,PKD1:NM_001009944:exon15:c.C3447T:p.H1149H |
|
16 |
2161782 |
1 |
PKD1 |
A |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T3386A:p.V1129E,PKD1:NM_001009944:exon15:c.T3386A:p.V1129E |
|
16 |
2161824 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C3344T:p.T1115M,PKD1:NM_001009944:exon15:c.C3344T:p.T1115M |
|
16 |
2161827 |
1 |
PKD1 |
A |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T3341G:p.L1114R,PKD1:NM_001009944:exon15:c.T3341G:p.L1114R |
|
16 |
2162839 |
1 |
PKD1 |
T |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon13:c.A3111G:p.L1037L,PKD1:NM_001009944:exon13:c.A3111G:p.L1037L |
|
16 |
2164354 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon11:c.C2670T:p.N890N,PKD1:NM_001009944:exon11:c.C2670T:p.N890N |
|
16 |
2164835 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon11:c.C2189T:p.S730L,PKD1:NM_001009944:exon11:c.C2189T:p.S730L |
|
16 |
2167972 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.G1021A:p.A341T,PKD1:NM_001009944:exon5:c.G1021A:p.A341T |
|
16 |
2168059 |
1 |
PKD1 |
C |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.G934C:p.A312P,PKD1:NM_001009944:exon5:c.G934C:p.A312P |
|
16 |
2168072 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.C921T:p.F307F,PKD1:NM_001009944:exon5:c.C921T:p.F307F |
|
16 |
2168167 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.A826G:p.T276A,PKD1:NM_001009944:exon5:c.A826G:p.T276A |
|
16 |
2168234 |
1 |
PKD1 |
T |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.A759G:p.P253P,PKD1:NM_001009944:exon5:c.A759G:p.P253P |
|
16 |
2168279 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.C714T:p.S238S,PKD1:NM_001009944:exon5:c.C714T:p.S238S |
|
16 |
2168293 |
1 |
PKD1 |
C |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.G700T:p.A234S,PKD1:NM_001009944:exon5:c.G700T:p.A234S |
|
16 |
2168730 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon4:c.G476A:p.G159D,PKD1:NM_001009944:exon4:c.G476A:p.G159D |
|
16 |
2331430 |
2 |
ABCA3 |
A |
G |
exonic |
synonymous SNV |
ABCA3:NM_001089:exon27:c.T4116C:p.S1372S |
|
16 |
2812890 |
2 |
SRRM2 |
A |
G |
exonic |
synonymous SNV |
SRRM2:NM_016333:exon11:c.A2361G:p.K787K |
RS2240141 |
Total cholesterol change with
statins:Triglycerides change with statins:Height:Waist hip ratio:Advanced
age-related macular degeneration (geographic atrophy) |
|
16 |
2814162 |
2 |
SRRM2 |
G |
A |
exonic |
synonymous SNV |
SRRM2:NM_016333:exon11:c.G3633A:p.R1211R |
|
16 |
2815237 |
2 |
SRRM2 |
A |
C |
exonic |
synonymous SNV |
SRRM2:NM_016333:exon11:c.A4708C:p.R1570R |
RS3094773 |
Stabilized warfarin dose |
|
16 |
2818161 |
2 |
SRRM2 |
T |
C |
exonic |
synonymous SNV |
SRRM2:NM_016333:exon11:c.T7632C:p.S2544S |
RS2301802 |
Total cholesterol change with
statins:Triglycerides change with statins:Height:Waist hip ratio:Advanced
age-related macular degeneration (geographic atrophy) |
|
16 |
2821573 |
2 |
ELOB |
C |
T |
exonic |
nonsynonymous SNV |
ELOB:NM_207013:exon5:c.G386A:p.S129N |
RS8017 |
HDL cholesterol change with
statins:Urinary albumin-to-creatinine ratio:Microalbuminuria:Comorbid
depressive syndrome and alcohol dependence |
|
16 |
3452193 |
2 |
ZNF174 |
T |
G |
exonic |
synonymous SNV |
ZNF174:NM_001032292:exon1:c.T189G:p.A63A,ZNF174:NM_001347869:exon1:c.T189G:p.A63A,ZNF174:NM_003450:exon1:c.T189G:p.A63A,ZNF174:NM_001347868:exon2:c.T189G:p.A63A,ZNF174:NM_001347870:exon2:c.T189G:p.A63A |
RS37811 |
Tardive dyskinesia:PROP taste
detection threshold:Parkinson's disease |
|
16 |
3533577 |
2 |
NAA60 |
C |
G |
exonic |
synonymous SNV |
NAA60:NM_001317095:exon4:c.C357G:p.G119G,NAA60:NM_001083600:exon5:c.C552G:p.G184G,NAA60:NM_001317093:exon5:c.C573G:p.G191G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083601:exon6:c.C552G:p.G184G |
RS1137454 |
Gene expression of NAT15
(ENSG00000122390) in dendritic cells |
|
16 |
3534892 |
2 |
NAA60 |
G |
A |
exonic |
nonsynonymous SNV |
NAA60:NM_001317096:exon5:c.G539A:p.R180Q |
RS13740 |
Irritible bowel syndrome:Chronic
kidney disease:Gene expression of CLUAP1 in blood:Gene expression of TRAP1 in
blood:Salmonella-induced pyroptosis |
|
16 |
3658876 |
2 |
SLX4 |
G |
A |
exonic |
synonymous SNV |
SLX4:NM_032444:exon2:c.C90T:p.S30S |
|
16 |
3707747 |
2 |
DNASE1 |
G |
A |
exonic |
nonsynonymous SNV |
DNASE1:NM_005223:exon8:c.G731A:p.R244Q |
RS1053874 |
Triglycerides:Waist hip ratio:Body
mass index (BMI):Gene expression of CLUAP1 in blood:Birth weight:Infant head
circumference |
|
16 |
4016676 |
2 |
ADCY9 |
A |
G |
exonic |
synonymous SNV |
ADCY9:NM_001116:exon11:c.T3162C:p.H1054H |
RS2230742 |
Major depressive disorder:Recurrent
early onset major depressive disorder:Childhood acute lymphoblastic
leukemia:Microalbuminuria:Bronchodilator response in asthma |
|
16 |
4165432 |
2 |
ADCY9 |
T |
C |
exonic |
synonymous SNV |
ADCY9:NM_001116:exon2:c.A12G:p.P4P |
|
16 |
4751045 |
2 |
ANKS3 |
C |
T |
exonic |
nonsynonymous SNV |
ANKS3:NM_001324129:exon7:c.G691A:p.A231T,ANKS3:NM_001242929:exon8:c.G889A:p.A297T,ANKS3:NM_001308089:exon10:c.G823A:p.A275T,ANKS3:NM_001324130:exon10:c.G340A:p.A114T,ANKS3:NM_133450:exon11:c.G1210A:p.A404T |
RS863980 |
Fasting insulin:Gene expression of
MGRN1 in normal prepouch ileum |
|
16 |
4752134 |
2 |
ANKS3 |
A |
G |
exonic |
synonymous SNV |
ANKS3:NM_001324129:exon5:c.T459C:p.D153D,ANKS3:NM_001242929:exon6:c.T657C:p.D219D,ANKS3:NM_001308089:exon8:c.T591C:p.D197D,ANKS3:NM_001324130:exon8:c.T108C:p.D36D,ANKS3:NM_133450:exon9:c.T978C:p.D326D |
|
16 |
4802386 |
2 |
ZNF500 |
G |
T |
exonic |
synonymous SNV |
ZNF500:NM_021646:exon6:c.C1434A:p.A478A |
RS3747602 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Refractive error:Infant head
circumference |
|
16 |
4815608 |
2 |
ZNF500 |
A |
G |
exonic |
synonymous SNV |
ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L |
|
16 |
4861709 |
2 |
GLYR1 |
G |
C |
exonic |
nonsynonymous SNV |
GLYR1:NM_001324096:exon13:c.C1182G:p.H394Q,GLYR1:NM_001324097:exon13:c.C1200G:p.H400Q,GLYR1:NM_001324098:exon13:c.C1392G:p.H464Q,GLYR1:NM_001308096:exon14:c.C1359G:p.H453Q,GLYR1:NM_032569:exon14:c.C1377G:p.H459Q |
|
16 |
4938160 |
2 |
PPL |
T |
G |
exonic |
nonsynonymous SNV |
PPL:NM_002705:exon20:c.A2457C:p.R819S |
RS2734742 |
Salmonella-induced pyroptosis |
|
16 |
4940809 |
2 |
PPL |
A |
G |
exonic |
synonymous SNV |
PPL:NM_002705:exon17:c.T2082C:p.C694C |
|
16 |
4944518 |
2 |
PPL |
C |
G |
exonic |
synonymous SNV |
PPL:NM_002705:exon12:c.G1344C:p.V448V |
|
16 |
8722629 |
1 |
METTL22 |
G |
C |
exonic |
nonsynonymous SNV |
METTL22:NM_024109:exon3:c.G176C:p.W59S |
RS2270286 |
Gene expression of KIAA1002 in CEU
lymphoblastoid cell lines:Gene expression of PRIM1 in CEU lymphoblastoid cell
lines:HDL cholesterol change with statins:Chronic kidney disease:Serum
creatinine:Gene expression of NOMO2 in peripheral blood monocytes:Gene
expression of B2M in peripheral blood monocytes |
|
16 |
8736028 |
2 |
METTL22 |
T |
C |
exonic |
synonymous SNV |
METTL22:NM_024109:exon8:c.T871C:p.L291L |
|
16 |
8738427 |
2 |
METTL22 |
T |
C |
exonic |
synonymous SNV |
METTL22:NM_024109:exon10:c.T1024C:p.L342L |
|
16 |
8738499 |
2 |
METTL22 |
G |
A |
exonic |
nonsynonymous SNV |
METTL22:NM_024109:exon10:c.G1096A:p.A366T |
|
16 |
8952248 |
2 |
CARHSP1 |
A |
G |
exonic |
synonymous SNV |
CARHSP1:NM_001042476:exon3:c.T240C:p.T80T,CARHSP1:NM_001278263:exon3:c.T240C:p.T80T,CARHSP1:NM_001278264:exon3:c.T240C:p.T80T,CARHSP1:NM_001278265:exon3:c.T240C:p.T80T,CARHSP1:NM_001278266:exon3:c.T240C:p.T80T,CARHSP1:NM_014316:exon3:c.T240C:p.T80T,CARHSP1:NM_001278260:exon4:c.T240C:p.T80T,CARHSP1:NM_001278261:exon4:c.T240C:p.T80T,CARHSP1:NM_001278262:exon4:c.T240C:p.T80T |
|
16 |
8953081 |
1 |
CARHSP1 |
C |
G |
exonic |
synonymous SNV |
CARHSP1:NM_001042476:exon2:c.G105C:p.R35R,CARHSP1:NM_001278263:exon2:c.G105C:p.R35R,CARHSP1:NM_001278264:exon2:c.G105C:p.R35R,CARHSP1:NM_001278265:exon2:c.G105C:p.R35R,CARHSP1:NM_001278266:exon2:c.G105C:p.R35R,CARHSP1:NM_014316:exon2:c.G105C:p.R35R,CARHSP1:NM_001278260:exon3:c.G105C:p.R35R,CARHSP1:NM_001278261:exon3:c.G105C:p.R35R,CARHSP1:NM_001278262:exon3:c.G105C:p.R35R |
|
16 |
8999138 |
1 |
USP7 |
T |
C |
exonic |
synonymous SNV |
USP7:NM_001286457:exon14:c.A1431G:p.A477A,USP7:NM_001321858:exon14:c.A1305G:p.A435A,USP7:NM_003470:exon14:c.A1479G:p.A493A,USP7:NM_001286458:exon15:c.A1182G:p.A394A |
|
16 |
10575824 |
1 |
ATF7IP2 |
C |
A |
exonic |
synonymous SNV |
ATF7IP2:NM_024997:exon12:c.C1767A:p.P589P |
RS1970817 |
Gene expression of ATF7IP2 in
blood:Age at death with kuru exposure:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
16 |
11439496 |
1 |
RMI2 |
G |
A |
exonic |
synonymous SNV |
RMI2:NM_152308:exon1:c.G168A:p.A56A |
|
16 |
11444572 |
1 |
RMI2 |
A |
C |
exonic |
synonymous SNV |
RMI2:NM_152308:exon2:c.A369C:p.T123T |
RS7204628 |
lysoPC a C16:0 / C12-DC:lysoPC a
C16:0 |
|
16 |
11647492 |
1 |
LITAF |
T |
C |
exonic |
nonsynonymous SNV |
LITAF:NM_001136472:exon3:c.A274G:p.I92V,LITAF:NM_001136473:exon3:c.A274G:p.I92V,LITAF:NM_004862:exon3:c.A274G:p.I92V |
|
16 |
11836398 |
2 |
TXNDC11 |
C |
G |
exonic |
synonymous SNV |
TXNDC11:NM_001303447:exon1:c.G189C:p.P63P,TXNDC11:NM_015914:exon1:c.G189C:p.P63P |
|
16 |
11836508 |
2 |
TXNDC11 |
G |
A |
exonic |
nonsynonymous SNV |
TXNDC11:NM_001303447:exon1:c.C79T:p.P27S,TXNDC11:NM_015914:exon1:c.C79T:p.P27S |
|
16 |
11852354 |
2 |
ZC3H7A |
A |
C |
exonic |
synonymous SNV |
ZC3H7A:NM_014153:exon20:c.T2361G:p.V787V |
|
16 |
11933678 |
1 |
RSL1D1 |
G |
C |
exonic |
synonymous SNV |
RSL1D1:NM_015659:exon8:c.C1020G:p.T340T |
|
16 |
11940390 |
2 |
RSL1D1 |
T |
C |
exonic |
synonymous SNV |
RSL1D1:NM_015659:exon5:c.A603G:p.T201T |
|
16 |
11969724 |
1 |
GSPT1 |
G |
C |
exonic |
synonymous SNV |
GSPT1:NM_001130006:exon14:c.C1752G:p.V584V,GSPT1:NM_001130007:exon14:c.C1341G:p.V447V,GSPT1:NM_002094:exon14:c.C1755G:p.V585V |
RS33657 |
Years of education:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG |
|
16 |
11981487 |
1 |
GSPT1 |
G |
A |
exonic |
synonymous SNV |
GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G |
RS3752426 |
HDL cholesterol:Barnes Akathisia
Rating Scale:HDL cholesterol change with statins:Years of education:College
completion |
|
16 |
12009277 |
1 |
GSPT1 |
C |
A |
exonic |
nonsynonymous SNV |
GSPT1:NM_001130006:exon1:c.G301T:p.G101C,GSPT1:NM_002094:exon1:c.G301T:p.G101C |
|
16 |
12009279 |
2 |
GSPT1 |
A |
G |
exonic |
nonsynonymous SNV |
GSPT1:NM_001130006:exon1:c.T299C:p.V100A,GSPT1:NM_002094:exon1:c.T299C:p.V100A |
|
16 |
12009304 |
1 |
GSPT1 |
C |
A |
exonic |
nonsynonymous SNV |
GSPT1:NM_001130006:exon1:c.G274T:p.G92C,GSPT1:NM_002094:exon1:c.G274T:p.G92C |
|
16 |
12758966 |
1 |
CPPED1 |
T |
C |
exonic |
nonsynonymous SNV |
CPPED1:NM_001099455:exon3:c.A296G:p.K99R,CPPED1:NM_018340:exon4:c.A722G:p.K241R |
RS1713480 |
Total cholesterol:Chronic kidney
disease |
|
16 |
12897578 |
1 |
CPPED1 |
G |
T |
exonic |
nonsynonymous SNV |
CPPED1:NM_001099455:exon1:c.C56A:p.A19D,CPPED1:NM_018340:exon1:c.C56A:p.A19D |
RS3748976 |
Triglycerides:Diastolic blood
pressure (DBP):Advanced age-related macular degeneration |
|
16 |
15042814 |
1 |
NPIPA1 |
T |
C |
exonic |
synonymous SNV |
NPIPA1:NM_006985:exon5:c.T465C:p.R155R |
|
16 |
15680642 |
2 |
C16orf45 |
C |
T |
exonic |
synonymous SNV |
C16orf45:NM_001142469:exon6:c.C520T:p.L174L,C16orf45:NM_033201:exon6:c.C571T:p.L191L |
RS2071332 |
Gene expression of ZMYM3 in
peripheral blood monocytes:Coronary artery disease (CAD) |
|
16 |
15818141 |
2 |
MYH11 |
A |
C |
exonic |
synonymous SNV |
MYH11:NM_002474:exon31:c.T4242G:p.A1414A,MYH11:NM_022844:exon31:c.T4242G:p.A1414A,MYH11:NM_001040113:exon32:c.T4263G:p.A1421A,MYH11:NM_001040114:exon32:c.T4263G:p.A1421A |
RS2075511 |
Coronary artery disease (CAD),
combined control dataset:Gene expression of probe 239307_at in lymphoblastoid
cell lines:Total cholesterol:Autism:Late onset Alzheimer's disease:Gene
expression of NDE1 in blood:Gene expression of MYH11 [probeset 239307_at] in
sputum:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Primary
rhegmatogenous retinal detachment:Amyotrophic lateral sclerosis (ALS) |
|
16 |
15961351 |
1 |
FOPNL |
T |
C |
exonic |
synonymous SNV |
FOPNL:NM_001304497:exon3:c.A249G:p.E83E,FOPNL:NM_001304500:exon4:c.A273G:p.E91E,FOPNL:NM_144600:exon5:c.A471G:p.E157E,FOPNL:NM_001304499:exon6:c.A543G:p.E181E |
|
16 |
15961356 |
1 |
FOPNL |
C |
T |
exonic |
nonsynonymous SNV |
FOPNL:NM_001304497:exon3:c.G244A:p.E82K,FOPNL:NM_001304500:exon4:c.G268A:p.E90K,FOPNL:NM_144600:exon5:c.G466A:p.E156K,FOPNL:NM_001304499:exon6:c.G538A:p.E180K |
|
16 |
16271357 |
2 |
ABCC6 |
T |
C |
exonic |
nonsynonymous SNV |
ABCC6:NM_001171:exon19:c.A2542G:p.M848V |
|
16 |
16272670 |
2 |
ABCC6 |
T |
C |
exonic |
synonymous SNV |
ABCC6:NM_001171:exon18:c.A2400G:p.G800G |
|
16 |
18823379 |
2 |
SMG1 |
T |
C |
exonic |
synonymous SNV |
SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q |
|
16 |
18839362 |
1 |
SMG1 |
T |
C |
exonic |
synonymous SNV |
SMG1:NM_015092:exon55:c.A9732G:p.A3244A |
RS12445870 |
2 hour glucose:Gene expression of
SMG1 in peripheral blood monocytes:Gene expression of ARL6IP1 in peripheral
blood monocytes:Waist hip ratio:Aortic valve calcium |
|
16 |
18861335 |
1 |
SMG1 |
A |
G |
exonic |
synonymous SNV |
SMG1:NM_015092:exon35:c.T5397C:p.H1799H |
RS2650613 |
Gene expression of ARL6IP1 [probe
3683037] in peripheral blood mononuclear cells:2 hour glucose:Triglycerides
change with statins:Total cholesterol:LDL cholesterol:Triglycerides:Waist hip
ratio:Gene expression of RPS15A in blood:Aortic valve calcium:Advanced
age-related macular degeneration:Tetrology of fallot |
|
16 |
19041595 |
2 |
TMC7 |
G |
A |
exonic |
nonsynonymous SNV |
TMC7:NM_001160364:exon6:c.G431A:p.G144E,TMC7:NM_001300732:exon6:c.G761A:p.G254E,TMC7:NM_001324265:exon6:c.G761A:p.G254E,TMC7:NM_024847:exon6:c.G761A:p.G254E |
RS28583298 |
Prostate cancer |
|
16 |
19067933 |
2 |
TMC7 |
G |
A |
exonic |
synonymous SNV |
TMC7:NM_001324268:exon13:c.G915A:p.T305T,TMC7:NM_001160364:exon14:c.G1611A:p.T537T,TMC7:NM_001300732:exon14:c.G1941A:p.T647T,TMC7:NM_001324263:exon14:c.G915A:p.T305T,TMC7:NM_024847:exon14:c.G1941A:p.T647T |
|
16 |
19085298 |
2 |
COQ7 |
C |
T |
exonic |
nonsynonymous SNV |
COQ7:NM_001190983:exon3:c.C194T:p.T65M,COQ7:NM_016138:exon3:c.C308T:p.T103M |
RS11074359 |
Irritible bowel
syndrome:Differential exon level expression of COQ7 [probe 3650810] in
peripheral blood mononuclear cells:Endometriosis |
|
16 |
19547747 |
2 |
CCP110 |
C |
G |
exonic |
nonsynonymous SNV |
CCP110:NM_001199022:exon4:c.C756G:p.I252M,CCP110:NM_001323572:exon4:c.C756G:p.I252M,CCP110:NM_001323577:exon4:c.C756G:p.I252M,CCP110:NM_001323569:exon5:c.C756G:p.I252M,CCP110:NM_001323576:exon5:c.C756G:p.I252M,CCP110:NM_014711:exon5:c.C756G:p.I252M,CCP110:NM_001323570:exon6:c.C756G:p.I252M,CCP110:NM_001323571:exon6:c.C756G:p.I252M |
RS226891 |
LDL cholesterol:Comorbid depressive
syndrome and alcohol dependence |
|
16 |
19725561 |
1 |
KNOP1 |
G |
A |
exonic |
nonsynonymous SNV |
KNOP1:NM_001012991:exon2:c.C797T:p.A266V,KNOP1:NM_001348527:exon2:c.C977T:p.A326V,KNOP1:NM_001348530:exon2:c.C797T:p.A266V,KNOP1:NM_001348531:exon2:c.C797T:p.A266V,KNOP1:NM_001348534:exon2:c.C797T:p.A266V,KNOP1:NM_001348535:exon2:c.C797T:p.A266V,KNOP1:NM_001348536:exon2:c.C797T:p.A266V,KNOP1:NM_001348528:exon3:c.C797T:p.A266V,KNOP1:NM_001348529:exon3:c.C797T:p.A266V,KNOP1:NM_001348532:exon3:c.C797T:p.A266V,KNOP1:NM_001348533:exon3:c.C797T:p.A266V,KNOP1:NM_001348537:exon3:c.C797T:p.A266V |
|
16 |
20811681 |
1 |
ERI2 |
C |
T |
exonic |
synonymous SNV |
ERI2:NM_001142725:exon6:c.G504A:p.K168K,ERI2:NM_080663:exon6:c.G504A:p.K168K |
RS2301771 |
LDL cholesterol change with statins |
|
16 |
20873767 |
1 |
DCUN1D3 |
T |
G |
exonic |
synonymous SNV |
DCUN1D3:NM_173475:exon2:c.A94C:p.R32R |
RS7187522 |
LDL cholesterol change with
statins:Total cholesterol:Asthma |
|
16 |
21190853 |
1 |
TMEM159 |
A |
C |
exonic |
nonsynonymous SNV |
TMEM159:NM_001301771:exon5:c.A462C:p.E154D,TMEM159:NM_020422:exon5:c.A462C:p.E154D,TMEM159:NM_001301769:exon6:c.A462C:p.E154D,TMEM159:NM_001301775:exon6:c.A534C:p.E178D |
RS1063087 |
Triglycerides change with
statins:Acute lung injury following major trauma:Obesity with early age of
onset (age >2):Gene expression of TMEM159 in normal prepouch ileum |
|
16 |
22262514 |
2 |
EEF2K |
C |
A |
exonic |
synonymous SNV |
EEF2K:NM_013302:exon6:c.C489A:p.G163G |
RS2303186 |
Major depressive disorder:HDL
cholesterol:Triglycerides:HDL cholesterol:Gene expression of POLR3E
[transcript NM_018119, probe A_23_P152181] in liver:Comorbid depressive
syndrome and alcohol dependence:Bipolar disorder |
|
16 |
22269867 |
2 |
EEF2K |
A |
G |
exonic |
nonsynonymous SNV |
EEF2K:NM_013302:exon10:c.A1082G:p.Q361R |
|
16 |
23489711 |
1 |
GGA2 |
C |
G |
exonic |
nonsynonymous SNV |
GGA2:NM_015044:exon13:c.G1270C:p.A424P |
RS1135045 |
Gene expression of GGA2 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DCTN5 [probe
209232_s_at] in lymphoblastoid cell lines:Gene expression of COG7 [probe
213190_at] in lymphoblastoid cell lines:Gene expression of COG7 in
lymphoblastoid cell lines:Gene expression of DCTN5 in lymphoblastoid cell
lines:Birth weight |
|
16 |
23536684 |
1 |
EARS2 |
T |
C |
exonic |
nonsynonymous SNV |
EARS2:NM_001083614:exon8:c.A1369G:p.S457G,EARS2:NM_001308211:exon8:c.A1369G:p.S457G |
RS6497671 |
Gene expression of COG7 [probe
213190_at] in lymphoblastoid cell lines:Differential exon level expression of
GGA2 [probe 3685210] in brain cortex:Differential exon level expression of
GGA2 [probe 3685210] in peripheral blood mononuclear cells:Gene expression of
UBPH in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of GGA2
in blood:Gene expression of COG7 in blood:Gene expression of DCTN5 in
blood:Gene expression of DCTN5 in normal prepouch ileum |
|
16 |
23546561 |
1 |
EARS2 |
G |
C |
exonic |
synonymous SNV |
EARS2:NM_001083614:exon4:c.C606G:p.V202V,EARS2:NM_001308211:exon4:c.C606G:p.V202V |
RS2073951 |
Gene expression of MGC3248 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of COG7 [probe
213190_at] in lymphoblastoid cell lines |
|
16 |
23563501 |
1 |
EARS2 |
C |
T |
exonic |
synonymous SNV |
EARS2:NM_001083614:exon2:c.G264A:p.A88A,EARS2:NM_001308211:exon2:c.G264A:p.A88A |
RS7187920 |
Gene expression of GGA2 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of COG7 [probe
213190_at] in lymphoblastoid cell lines:Gene expression of DCTN5 [probe
209232_s_at] in lymphoblastoid cell lines:Gene expression of DCTN5 in
lymphoblastoid cell lines:Gene expression of COG7 in lymphoblastoid cell
lines:Bipolar disorder:Major depressive disorder and bipolar disorder
combined analysis:Gene expression of DCTN5 in normal prepouch ileum:Birth
weight:Bipolar disorder |
|
16 |
23607504 |
1 |
NDUFAB1 |
G |
C |
exonic |
synonymous SNV |
NDUFAB1:NM_005003:exon1:c.C108G:p.L36L |
RS466719 |
PROP taste detection threshold |
|
16 |
23677006 |
1 |
DCTN5 |
A |
G |
exonic |
synonymous SNV |
DCTN5:NM_001199743:exon5:c.A408G:p.P136P,DCTN5:NM_032486:exon5:c.A408G:p.P136P |
RS35586 |
Gene expression of MGC3248 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:HDL cholesterol |
|
16 |
24834233 |
1 |
TNRC6A |
C |
T |
exonic |
synonymous SNV |
TNRC6A:NM_001330520:exon23:c.C5265T:p.H1755H,TNRC6A:NM_014494:exon24:c.C5412T:p.H1804H |
RS2303085 |
Rheumatoid arthritis:LDL
cholesterol change with statins:Height:Systolic blood pressure (SBP):Age at
death with kuru exposure:College completion:Tetrology of fallot |
|
16 |
27238110 |
1 |
NSMCE1 |
C |
T |
exonic |
synonymous SNV |
NSMCE1:NM_145080:exon6:c.G531A:p.E177E |
|
16 |
27357927 |
1 |
IL4R |
C |
T |
exonic |
nonsynonymous SNV |
IL4R:NM_001257997:exon5:c.C26T:p.T9M |
RS2234895 |
Allele-specific methylation and
blood gene expression of 242743_at:Rheumatoid arthritis:Gene expression of
IL4R in peripheral blood monocytes |
|
16 |
27373980 |
1 |
IL4R |
C |
T |
exonic |
nonsynonymous SNV |
IL4R:NM_001257406:exon10:c.C1307T:p.S436L,IL4R:NM_001257997:exon10:c.C827T:p.S276L,IL4R:NM_000418:exon11:c.C1307T:p.S436L,IL4R:NM_001257407:exon11:c.C1262T:p.S421L |
RS1805013 |
HDL cholesterol:Triglycerides:Birth
weight |
|
16 |
27374180 |
1 |
IL4R |
T |
C |
exonic |
nonsynonymous SNV |
IL4R:NM_001257406:exon10:c.T1507C:p.S503P,IL4R:NM_001257997:exon10:c.T1027C:p.S343P,IL4R:NM_000418:exon11:c.T1507C:p.S503P,IL4R:NM_001257407:exon11:c.T1462C:p.S488P |
RS1805015 |
Eye color:Cystatin C in serum:Waist
hip ratio:Gene expression of IL4R in blood:IgE in plasma:Sporadic
Creutzfeldt-Jakob disease:Asthma exacerbation |
|
16 |
27374400 |
2 |
IL4R |
A |
G |
exonic |
nonsynonymous SNV |
IL4R:NM_001257406:exon10:c.A1727G:p.Q576R,IL4R:NM_001257997:exon10:c.A1247G:p.Q416R,IL4R:NM_000418:exon11:c.A1727G:p.Q576R,IL4R:NM_001257407:exon11:c.A1682G:p.Q561R |
RS1801275 |
Total cholesterol:Gene expression of
IL4R in blood:IgE in plasma:Birth weight |
|
16 |
27374927 |
1 |
IL4R |
T |
G |
exonic |
nonsynonymous SNV |
IL4R:NM_001257406:exon10:c.T2254G:p.S752A,IL4R:NM_001257997:exon10:c.T1774G:p.S592A,IL4R:NM_000418:exon11:c.T2254G:p.S752A,IL4R:NM_001257407:exon11:c.T2209G:p.S737A |
RS1805016 |
Birth weight |
|
16 |
28123226 |
1 |
XPO6 |
G |
A |
exonic |
synonymous SNV |
XPO6:NM_015171:exon17:c.C2253T:p.H751H,XPO6:NM_001270940:exon18:c.C2211T:p.H737H |
RS205384 |
HOMA-IR:HDL cholesterol change with
statins:Years of education:Gene expression of XPO6 (probeID ILMN_1755235) in
temporal cortex in Alzheimer's disease cases and controls:College completion |
|
16 |
28603655 |
1 |
SULT1A2 |
T |
G |
exonic |
nonsynonymous SNV |
SULT1A2:NM_001054:exon7:c.A704C:p.N235T,SULT1A2:NM_177528:exon7:c.A704C:p.N235T |
RS1059491 |
Nonsyndromic striae distensae
(stretch marks) |
|
16 |
28617485 |
2 |
SULT1A1 |
C |
T |
exonic |
nonsynonymous SNV |
SULT1A1:NM_177536:exon5:c.G433A:p.V145M,SULT1A1:NM_177534:exon6:c.G667A:p.V223M,SULT1A1:NM_001055:exon7:c.G667A:p.V223M,SULT1A1:NM_177529:exon7:c.G667A:p.V223M,SULT1A1:NM_177530:exon7:c.G667A:p.V223M |
|
16 |
28617514 |
1 |
SULT1A1 |
C |
T |
exonic |
nonsynonymous SNV |
SULT1A1:NM_177536:exon5:c.G404A:p.R135H,SULT1A1:NM_177534:exon6:c.G638A:p.R213H,SULT1A1:NM_001055:exon7:c.G638A:p.R213H,SULT1A1:NM_177529:exon7:c.G638A:p.R213H,SULT1A1:NM_177530:exon7:c.G638A:p.R213H |
|
16 |
28618389 |
1 |
SULT1A1 |
C |
T |
exonic |
nonsynonymous SNV |
SULT1A1:NM_177536:exon3:c.G148A:p.V50I,SULT1A1:NM_177534:exon4:c.G382A:p.V128I,SULT1A1:NM_001055:exon5:c.G382A:p.V128I,SULT1A1:NM_177529:exon5:c.G382A:p.V128I,SULT1A1:NM_177530:exon5:c.G382A:p.V128I |
|
16 |
28619911 |
1 |
SULT1A1 |
T |
C |
exonic |
synonymous SNV |
SULT1A1:NM_177534:exon2:c.A162G:p.V54V,SULT1A1:NM_001055:exon3:c.A162G:p.V54V,SULT1A1:NM_177529:exon3:c.A162G:p.V54V,SULT1A1:NM_177530:exon3:c.A162G:p.V54V |
|
16 |
28842311 |
2 |
ATXN2L |
A |
G |
exonic |
synonymous SNV |
ATXN2L:NM_001308230:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q |
|
16 |
28883241 |
1 |
SH2B1 |
A |
G |
exonic |
nonsynonymous SNV |
SH2B1:NM_001308294:exon5:c.A442G:p.T148A,SH2B1:NM_015503:exon5:c.A1450G:p.T484A,SH2B1:NM_001145795:exon6:c.A1450G:p.T484A,SH2B1:NM_001145796:exon6:c.A1450G:p.T484A,SH2B1:NM_001145797:exon6:c.A1450G:p.T484A,SH2B1:NM_001145812:exon6:c.A1450G:p.T484A,SH2B1:NM_001308293:exon8:c.A1450G:p.T484A |
RS7498665 |
Gene expression of EIF3CL [probe
210949_s_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe
210949_s_at] in lymphoblastoid cell lines:Gene expression of EIF3CL [probe
215230_x_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe
215230_x_at] in lymphoblastoid cell lines:Gene expression of EIF3CL [probe
200647_x_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe
200647_x_at] in lymphoblastoid cell lines:Eye color:Irritible bowel
syndrome:Body mass index (BMI):Weight:Obesity (body mass index (BMI)):Type 2
diabetes:EIF3C expression for Blood tissue:SH2B1 expression for Adipose
tissue:SULT1A1 expression for Blood tissue:EIF3C expression for Adipose
tissue:SULT1A2 expression for Adipose tissue:SULT1A1 expression for Adipose
tissue:SULT1A2 expression for Blood tissue:APOB48R expression for Adipose
tissue:Body mass index (BMI):Percent body fat:Overweight (body mass index
(BMI)):Obesity (body mass index (BMI)):Weight:EIF3S8 expression in
Lymphocytes:TUFM expression in Lymphocytes:Schizophrenia:Differential exon
level expression of TUFM [probe 3686736] in peripheral blood mononuclear
cells:Differential exon level expression of TUFM [probe 3686740] in
peripheral blood mononuclear cells:Differential exon level expression of TUFM
[probe 3686732] in peripheral blood mononuclear cells:Gene expression of TUFM
[probe 3686728] in peripheral blood mononuclear cells:Differential exon level
expression of TUFM [probe 3686739] in peripheral blood mononuclear
cells:Differential exon level expression of TUFM [probe 3686730] in
peripheral blood mononuclear cells:Differential exon level expression of TUFM
[probe 3686743] in peripheral blood mononuclear cells:Differential exon level
expression of TUFM [probe 3686735] in peripheral blood mononuclear
cells:Differential exon level expression of TUFM [probe 3686741] in
peripheral blood mononuclear cells:Premature ovarian failure:Extreme obesity
(body mass index (BMI)):Waist circumference:Waist hip ratio:Fasting
insulin:HOMA-IR:HOMA-B:Body mass index (BMI) (adolescents):Rheumatoid
arthritis:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe
cg00000292] in Frontal cortex:Methylation levels at chr16:28797601-28797651
[hg18 coord, probe cg00000292] in Temporal cortex:Methylation levels at
chr16:28797601-28797651 [hg18 coord, probe cg00000292] in Caudal
pons:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe
cg00000292] in Cerebellum:HDL cholesterol:Body mass index (BMI):Body mass
index (BMI) (genotype x age interactions):Body mass index (BMI) (study year x
genotype interaction):Microalbuminuria:Percent fat (bioelectric impedance
measure):Percent body fat:Gene expression of SPNS1///LAT in blood:Gene
expression of LAT in blood:Gene expression of TUFM in blood:Gene expression
of NEK11 in blood:Obesity (body mass index (BMI)):Body mass index
(BMI):Bipolar disorder:Obesity with early age of onset (age
>2):Nonsyndromic striae distensae (stretch marks):Obesity class:Years of
education:Body mass index (BMI):College completion:Salmonella-induced
pyroptosis:Body mass index (BMI) >25 kg/m2:Parkinson's disease |
|
16 |
28995145 |
1 |
SPNS1 |
C |
T |
exonic |
synonymous SNV |
SPNS1:NM_001142449:exon9:c.C1137T:p.F379F,SPNS1:NM_001142451:exon10:c.C1203T:p.F401F,SPNS1:NM_032038:exon11:c.C1359T:p.F453F,SPNS1:NM_001142448:exon12:c.C1359T:p.F453F,SPNS1:NM_001142450:exon12:c.C1140T:p.F380F |
RS4788114 |
Rheumatoid arthritis:Diastolic blood
pressure (DBP) |
|
16 |
29708350 |
2 |
QPRT |
A |
G |
exonic |
nonsynonymous SNV |
QPRT:NM_001318249:exon2:c.A148G:p.T50A,QPRT:NM_001318250:exon3:c.A139G:p.T47A,QPRT:NM_014298:exon3:c.A583G:p.T195A |
|
16 |
29811319 |
2 |
KIF22 |
C |
T |
exonic |
synonymous SNV |
KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I |
|
16 |
29814234 |
2 |
KIF22 |
G |
A |
exonic |
synonymous SNV |
KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V |
|
16 |
29825126 |
2 |
PRRT2 |
T |
C |
exonic |
synonymous SNV |
PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L |
|
16 |
29994922 |
1 |
TAOK2 |
C |
T |
exonic |
synonymous SNV |
TAOK2:NM_001252043:exon13:c.C1359T:p.S453S,TAOK2:NM_004783:exon13:c.C1359T:p.S453S,TAOK2:NM_016151:exon13:c.C1359T:p.S453S |
RS3814883 |
LDL cholesterol:Gene expression of
SEZ6L2 in Cerebellum:Gene expression of SEZ6L2 in Frontal cortex:LDL
cholesterol:Height:Body mass index (BMI):Suicide attempts in major depressive
disorder:Parkinson's disease |
|
16 |
30097630 |
2 |
TBX6 |
C |
T |
exonic |
synonymous SNV |
TBX6:NM_004608:exon9:c.G1227A:p.P409P |
RS2289292 |
Body mass index (BMI):Gene
expression of GDPD3 [transcript NM_024307, probe A_23_P26511] in
liver:Obesity with early age of onset (age >2) |
|
16 |
30198151 |
2 |
CORO1A |
A |
G |
exonic |
synonymous SNV |
CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P |
|
16 |
30364885 |
1 |
CD2BP2 |
C |
T |
exonic |
synonymous SNV |
CD2BP2:NM_001243646:exon4:c.G612A:p.G204G,CD2BP2:NM_006110:exon5:c.G612A:p.G204G |
|
16 |
30408765 |
2 |
ZNF48 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF48:NM_152652:exon2:c.C194T:p.A65V,ZNF48:NM_001214906:exon3:c.C194T:p.A65V,ZNF48:NM_001214909:exon3:c.C194T:p.A65V |
RS12921440 |
Gene expression of BOLA2 [probe
210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC440354 [probe
210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC595101 [probe
210396_s_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:LDL
cholesterol change with statins:LDL cholesterol:Total cholesterol:Gene
expression of ZNF688///CD2BP2 in blood:Gene expression of
ZNF688///GDPD3///MAPK3 in blood:Gene expression of LOC440354 (probeID
ILMN_1782377) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of SEPT1 (probeID ILMN_2415162) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in Alzheimer's disease cases:Parkinson's disease:Gene
expression of LOC440354 (probeID ILMN_1782377) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of LOC440354 (probeID
ILMN_1782377) in temporal cortex in non-Alzheimer's disease samples:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of LOC595101 (probeID ILMN_2200562) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SEPT1 (probeID ILMN_2415162) in temporal cortex
in Alzheimer's disease cases:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of LOC440354 (probeID ILMN_1782377) in cerebellum in
non-Alzheimer's disease samples:Gene expression of SEPT1 (probeID
ILMN_2415162) in temporal cortex in non-Alzheimer's disease
samples:Refractive error:Advanced age-related macular degeneration:Gene
expression of SEPT1 (probeID ILMN_2415162) in cerebellum in Alzheimer's
disease cases and controls |
|
16 |
30666367 |
1 |
PRR14 |
C |
T |
exonic |
nonsynonymous SNV |
PRR14:NM_001320464:exon8:c.C1076T:p.P359L,PRR14:NM_024031:exon8:c.C1076T:p.P359L |
RS3747481 |
Stabilized warfarin
dose:Acenocoumarol (warfarin) maintenance dose:Alzheimer's disease:Rheumatoid
arthritis:Triglycerides:Waist hip ratio:Gene expression of FLJ32130 [probe
ILMN_12097] in osteoblasts treated with BMP2:Gene expression of AC093249.4 in
blood:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
16 |
30724070 |
2 |
SRCAP |
G |
T |
exonic |
synonymous SNV |
SRCAP:NM_006662:exon14:c.G2064T:p.R688R |
|
16 |
30734963 |
2 |
SRCAP |
C |
A |
exonic |
synonymous SNV |
SRCAP:NM_006662:exon25:c.C4218A:p.S1406S |
|
16 |
30779716 |
2 |
RNF40 |
A |
G |
exonic |
nonsynonymous SNV |
RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_001286572:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R |
|
16 |
30780828 |
2 |
RNF40 |
A |
G |
exonic |
synonymous SNV |
RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_001286572:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L |
|
16 |
30964940 |
2 |
ORAI3 |
A |
G |
exonic |
synonymous SNV |
ORAI3:NM_152288:exon2:c.A663G:p.Q221Q |
|
16 |
30999142 |
1 |
HSD3B7 |
A |
G |
exonic |
nonsynonymous SNV |
HSD3B7:NM_025193:exon7:c.A748G:p.T250A |
RS9938550 |
Infant head
circumference:Parkinson's disease |
|
16 |
30999462 |
1 |
HSD3B7 |
T |
C |
exonic |
synonymous SNV |
HSD3B7:NM_025193:exon7:c.T1068C:p.R356R |
RS2305880 |
Triglycerides:Triglycerides:Gene
expression of HSD3B7 in normal prepouch ileum:Red blood cell count (RBC):Gene
expression of VKORC1 in normal prepouch ileum:Infant head
circumference:Parkinson's disease |
|
16 |
31073208 |
1 |
ZNF668 |
C |
T |
exonic |
synonymous SNV |
ZNF668:NM_001172668:exon3:c.G1041A:p.A347A,ZNF668:NM_001172670:exon3:c.G1041A:p.A347A,ZNF668:NM_024706:exon3:c.G1041A:p.A347A,ZNF668:NM_001172669:exon4:c.G1110A:p.A370A |
|
16 |
31075708 |
2 |
ZNF668 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L |
|
16 |
31088347 |
1 |
ZNF646 |
G |
A |
exonic |
synonymous SNV |
ZNF646:NM_014699:exon2:c.G702A:p.E234E |
RS749671 |
Triglycerides:HDL cholesterol:Total
cholesterol:LDL cholesterol:Triglycerides:Body mass index (BMI):Dose change
in phenprocoumon (warfarin) in mg/week per allele:Bipolar
disorder:Parkinson's disease:Gene expression of PRSS53 in normal prepouch
ileum:Gene expression of ZNF668 (ENSG00000167394) in dendritic cells:Gene
expression of ZNF668 (ENSG00000167394) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of VKORC1 in normal prepouch ileum |
|
16 |
31090407 |
1 |
ZNF646 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF646:NM_014699:exon2:c.G2762C:p.G921A |
|
16 |
31096164 |
1 |
PRSS53 |
G |
C |
exonic |
nonsynonymous SNV |
PRSS53:NM_001039503:exon8:c.C1216G:p.P406A |
RS7199949 |
LDL cholesterol:Total
cholesterol:Triglycerides:Body mass index (BMI):Parkinson's disease:Infant
head circumference |
|
16 |
31121793 |
1 |
BCKDK |
G |
A |
exonic |
synonymous SNV |
BCKDK:NM_001122957:exon7:c.G615A:p.T205T,BCKDK:NM_001271926:exon7:c.G615A:p.T205T,BCKDK:NM_005881:exon7:c.G615A:p.T205T |
RS14235 |
Triglycerides:HDL cholesterol:LDL
cholesterol:Total cholesterol:Triglycerides:Body mass index (BMI):Dose change
in phenprocoumon (warfarin) in mg/week per allele:Bipolar disorder:Gene
expression of PRSS53 in normal prepouch ileum:Gene expression of VKORC1 in
normal prepouch ileum:Parkinson's disease |
|
16 |
31141826 |
2 |
KAT8 |
A |
G |
exonic |
synonymous SNV |
KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P |
|
16 |
31141880 |
2 |
KAT8 |
A |
G |
exonic |
synonymous SNV |
KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L |
|
16 |
31153105 |
2 |
PRSS36 |
A |
G |
exonic |
synonymous SNV |
PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D |
|
16 |
31195279 |
2 |
FUS |
C |
T |
exonic |
synonymous SNV |
FUS:NM_001170634:exon4:c.C288T:p.Y96Y,FUS:NM_001170937:exon4:c.C291T:p.Y97Y,FUS:NM_004960:exon4:c.C291T:p.Y97Y |
RS1052352 |
LDL
cholesterol:Triglycerides:Triglycerides:Dose change in phenprocoumon
(warfarin) in mg/week per allele:PROP taste detection threshold:Parkinson's
disease:Gene expression of VKORC1 in normal prepouch ileum:Gene expression of
MYST1 (probeID ILMN_1804679) in cerebellum in Alzheimer's disease cases and
controls |
|
16 |
31926619 |
2 |
ZNF267 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y |
RS3850114 |
Obesity with early age of onset (age
>2) |
|
16 |
39921444 |
2 |
|
16 |
46655210 |
2 |
SHCBP1 |
A |
G |
exonic |
nonsynonymous SNV |
SHCBP1:NM_001324318:exon1:c.T62C:p.M21T,SHCBP1:NM_001324319:exon1:c.T62C:p.M21T,SHCBP1:NM_024745:exon1:c.T62C:p.M21T |
|
16 |
46696284 |
2 |
VPS35 |
G |
A |
exonic |
synonymous SNV |
VPS35:NM_018206:exon15:c.C1938T:p.H646H |
|
16 |
50106594 |
2 |
HEATR3 |
T |
C |
exonic |
synonymous SNV |
HEATR3:NM_182922:exon5:c.T591C:p.F197F,HEATR3:NM_001329729:exon6:c.T240C:p.F80F,HEATR3:NM_001329730:exon6:c.T240C:p.F80F |
RS2287197 |
Irritible bowel syndrome:Gene
expression of YP01_HUMAN in blood cells in Celiac disease:Schizophrenia:Gene
expression of HEATR3 [probe 3659888] in peripheral blood mononuclear
cells:High-grade glioma:Fasting blood glucose:Total cholesterol change with
statins:Gene expression of FLJ20718 in CD4+ lymphocytes:Waist hip
ratio:Neuroblastoma (brain cancer):Gene expression of HEATR3 in
blood:Comorbid depressive syndrome and alcohol dependence:PROP taste
detection threshold:Parkinson's disease:Gene expression of HEATR3 (probeID
ILMN_1808219) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of HEATR3 (probeID ILMN_1808219) in cerebellum in non-Alzheimer's
disease samples:Primary rhegmatogenous retinal detachment:Gene expression of
HEATR3 (probeID ILMN_1808219) in cerebellum in Alzheimer's disease cases:Gene
expression of HEATR3 (probeID ILMN_1808219) in temporal cortex in Alzheimer's
disease cases:Gene expression of HEATR3 (probeID ILMN_1808219) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of HEATR3
(probeID ILMN_1808219) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of HEATR3 (probeID ILMN_1808219) in cerebellum in
Alzheimer's disease cases and controls |
|
16 |
50326661 |
2 |
ADCY7 |
A |
G |
exonic |
synonymous SNV |
ADCY7:NM_001114:exon4:c.A612G:p.A204A,ADCY7:NM_001286057:exon5:c.A612G:p.A204A |
|
16 |
52473263 |
1 |
TOX3 |
A |
G |
exonic |
synonymous SNV |
TOX3:NM_001080430:exon7:c.T1605C:p.P535P,TOX3:NM_001146188:exon8:c.T1590C:p.P530P |
RS9925256 |
Irritible bowel
syndrome:Triglycerides change with statins:LDL cholesterol:Chronic kidney
disease:Serum creatinine |
|
16 |
53503934 |
1 |
RBL2 |
G |
A |
exonic |
synonymous SNV |
RBL2:NM_001323608:exon15:c.G2082A:p.T694T,RBL2:NM_001323609:exon15:c.G2082A:p.T694T,RBL2:NM_001323610:exon15:c.G2082A:p.T694T,RBL2:NM_001323611:exon15:c.G1860A:p.T620T,RBL2:NM_005611:exon15:c.G2082A:p.T694T |
|
16 |
53503943 |
1 |
RBL2 |
C |
G |
exonic |
synonymous SNV |
RBL2:NM_001323608:exon15:c.C2091G:p.R697R,RBL2:NM_001323609:exon15:c.C2091G:p.R697R,RBL2:NM_001323610:exon15:c.C2091G:p.R697R,RBL2:NM_001323611:exon15:c.C1869G:p.R623R,RBL2:NM_005611:exon15:c.C2091G:p.R697R |
|
16 |
53504721 |
1 |
RBL2 |
T |
C |
exonic |
synonymous SNV |
RBL2:NM_001323608:exon17:c.T2590C:p.L864L,RBL2:NM_001323609:exon17:c.T2590C:p.L864L,RBL2:NM_001323610:exon17:c.T2443C:p.L815L,RBL2:NM_001323611:exon17:c.T2368C:p.L790L,RBL2:NM_005611:exon17:c.T2590C:p.L864L |
RS10748 |
Gene expression of RBL2 [probe
212332_at] in lymphoblastoid cell lines:2 hour glucose:College
completion:Aortic valve calcium:Years of education:Gene expression of RBL2
(ENSG00000103479) in dendritic cells |
|
16 |
54318528 |
2 |
IRX3 |
A |
G |
exonic |
nonsynonymous SNV |
IRX3:NM_024336:exon2:c.T1265C:p.L422P |
|
16 |
56548501 |
2 |
BBS2 |
C |
T |
exonic |
nonsynonymous SNV |
BBS2:NM_031885:exon2:c.G209A:p.S70N |
|
16 |
57016092 |
2 |
CETP |
G |
A |
exonic |
nonsynonymous SNV |
CETP:NM_001286085:exon13:c.G1084A:p.V362I,CETP:NM_000078:exon14:c.G1264A:p.V422I |
RS5882 |
HDL cholesterol:Eye
color:Rheumatoid arthritis:HDL cholesterol:HDL cholesterol:HDL
cholesterol:HDL cholesterol:APOA1 (apolipoprotein AI):HDL cholesterol:Major
depressive disorder (broad definition) (females):Major depressive disorder
(broad definition):HDL cholesterol:LDL cholesterol:Total cholesterol:HDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Rheumatoid
arthritis:HDL cholesterol (modeled HDL cholesterol):HDL cholesterol (median
HDL cholesterol):Variant Creutzfeldt-Jakob disease:HDL cholesterol:Paternal
transmission distortion:Schizophrenia:Advanced age-related macular
degeneration:Birth weight:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
16 |
57068107 |
2 |
NLRC5 |
C |
T |
exonic |
synonymous SNV |
NLRC5:NM_032206:exon12:c.C2571T:p.H857H,NLRC5:NM_001330552:exon13:c.C2571T:p.H857H |
|
16 |
57499902 |
2 |
POLR2C |
T |
C |
exonic |
synonymous SNV |
POLR2C:NM_032940:exon3:c.T174C:p.V58V |
RS4937 |
LDL cholesterol:Mitral annular
calcium |
|
16 |
57619648 |
2 |
|
16 |
57689883 |
1 |
ADGRG1 |
T |
C |
exonic |
synonymous SNV |
ADGRG1:NM_001145773:exon7:c.T1011C:p.T337T,ADGRG1:NM_001290142:exon7:c.T486C:p.T162T,ADGRG1:NM_001290143:exon7:c.T471C:p.T157T,ADGRG1:NM_001290144:exon7:c.T471C:p.T157T,ADGRG1:NM_201525:exon7:c.T996C:p.T332T,ADGRG1:NM_001145770:exon8:c.T996C:p.T332T,ADGRG1:NM_001145771:exon8:c.T996C:p.T332T,ADGRG1:NM_001145772:exon8:c.T996C:p.T332T,ADGRG1:NM_001145774:exon8:c.T996C:p.T332T,ADGRG1:NM_005682:exon8:c.T996C:p.T332T,ADGRG1:NM_201524:exon8:c.T996C:p.T332T |
RS1376041 |
Hip bone mineral density
(BMD):Multiple sclerosis:2 hour glucose:Gene expression of GPR56 in
blood:Parkinson's disease |
|
16 |
57722328 |
2 |
ADGRG3 |
C |
T |
exonic |
synonymous SNV |
ADGRG3:NM_001308360:exon11:c.C1245T:p.S415S,ADGRG3:NM_170776:exon12:c.C1605T:p.S535S |
RS12444859 |
Fasting blood glucose:HDL
cholesterol |
|
16 |
57786711 |
2 |
KATNB1 |
C |
T |
exonic |
synonymous SNV |
KATNB1:NM_005886:exon10:c.C726T:p.D242D |
RS2965798 |
Biploar disorder (bipolar
schizoaffective disorder):Triglycerides |
|
16 |
57795394 |
2 |
KIFC3 |
G |
A |
exonic |
synonymous SNV |
KIFC3:NM_001318712:exon12:c.C1497T:p.D499D,KIFC3:NM_001318713:exon12:c.C1377T:p.D459D,KIFC3:NM_001130099:exon13:c.C1386T:p.D462D,KIFC3:NM_001130100:exon14:c.C1803T:p.D601D,KIFC3:NM_001318710:exon14:c.C1869T:p.D623D,KIFC3:NM_001318711:exon14:c.C1629T:p.D543D,KIFC3:NM_001318715:exon14:c.C1386T:p.D462D,KIFC3:NM_005550:exon14:c.C1803T:p.D601D,KIFC3:NM_001318714:exon15:c.C1386T:p.D462D |
RS2967172 |
Triglycerides:Body mass index (BMI) |
|
16 |
57805176 |
2 |
KIFC3 |
A |
G |
exonic |
synonymous SNV |
KIFC3:NM_001318712:exon4:c.T393C:p.L131L,KIFC3:NM_001318713:exon4:c.T282C:p.L94L,KIFC3:NM_001130099:exon5:c.T282C:p.L94L,KIFC3:NM_001130100:exon6:c.T699C:p.L233L,KIFC3:NM_001318710:exon6:c.T765C:p.L255L,KIFC3:NM_001318711:exon6:c.T525C:p.L175L,KIFC3:NM_001318715:exon6:c.T282C:p.L94L,KIFC3:NM_005550:exon6:c.T699C:p.L233L,KIFC3:NM_001318714:exon7:c.T282C:p.L94L |
RS2967165 |
Neuroblastoma (brain
cancer):Salmonella-induced pyroptosis:Birth weight |
|
16 |
58030634 |
2 |
ZNF319 |
C |
T |
exonic |
synonymous SNV |
ZNF319:NM_020807:exon2:c.G1536A:p.K512K |
|
16 |
58549932 |
1 |
SETD6 |
T |
C |
exonic |
synonymous SNV |
SETD6:NM_001160305:exon2:c.T265C:p.L89L,SETD6:NM_024860:exon3:c.T193C:p.L65L |
RS4784046 |
HDL cholesterol:Birth weight |
|
16 |
58552921 |
1 |
SETD6 |
G |
A |
exonic |
synonymous SNV |
SETD6:NM_001160305:exon8:c.G1410A:p.E470E,SETD6:NM_024860:exon9:c.G1338A:p.E446E |
|
16 |
58575489 |
1 |
CNOT1 |
G |
A |
exonic |
synonymous SNV |
CNOT1:NM_001265612:exon34:c.C4701T:p.Y1567Y,CNOT1:NM_016284:exon34:c.C4716T:p.Y1572Y |
|
16 |
58577421 |
1 |
CNOT1 |
C |
T |
exonic |
synonymous SNV |
CNOT1:NM_206999:exon31:c.G4524A:p.A1508A |
RS41260 |
Barnes Akathisia Rating Scale:Gene
expression of CNOT1 [probe 200860_s_at] in prefrontal cortex:Lp-PLA2
mass:Coronary artery disease (CAD):Gene expression of NDRG4 (probeID
ILMN_2305225) in breast tumors:Refractive error |
|
16 |
58587737 |
1 |
CNOT1 |
C |
T |
exonic |
synonymous SNV |
CNOT1:NM_001265612:exon22:c.G2904A:p.Q968Q,CNOT1:NM_016284:exon22:c.G2919A:p.Q973Q,CNOT1:NM_206999:exon22:c.G2919A:p.Q973Q |
RS11866002 |
Gene expression of SETD6///CNOT1 in
blood:Gene expression of CNOT1 [probeset 200860_s_at] in sputum:Resistance to
kuru in aged women despite likely exposure:Mitral annular calcium:Birth
weight:Advanced age-related macular degeneration:Aortic valve calcium |
|
16 |
58616984 |
1 |
CNOT1 |
T |
C |
exonic |
synonymous SNV |
CNOT1:NM_001265612:exon9:c.A909G:p.G303G,CNOT1:NM_016284:exon9:c.A909G:p.G303G,CNOT1:NM_206999:exon9:c.A909G:p.G303G |
|
16 |
58743454 |
2 |
GOT2 |
A |
C |
exonic |
nonsynonymous SNV |
GOT2:NM_001286220:exon8:c.T908G:p.V303G,GOT2:NM_002080:exon9:c.T1037G:p.V346G |
RS30842 |
Eye color:Rheumatoid
arthritis:Total cholesterol:Triglycerides:Bipolar disorder:Resistance to kuru
in aged women despite likely exposure:Gene expression of SLC38A7
(ENSG00000103042) in dendritic cells:Gene expression of GOT2 in normal
prepouch ileum |
|
16 |
58750604 |
2 |
GOT2 |
G |
A |
exonic |
synonymous SNV |
GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C |
|
16 |
58757668 |
2 |
GOT2 |
A |
C |
exonic |
synonymous SNV |
GOT2:NM_001286220:exon2:c.T228G:p.V76V,GOT2:NM_002080:exon2:c.T228G:p.V76V |
|
16 |
58757683 |
2 |
GOT2 |
A |
G |
exonic |
synonymous SNV |
GOT2:NM_001286220:exon2:c.T213C:p.N71N,GOT2:NM_002080:exon2:c.T213C:p.N71N |
|
16 |
67316234 |
1 |
PLEKHG4 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHG4:NM_001129731:exon7:c.C992T:p.T331I,PLEKHG4:NM_001129728:exon9:c.C1235T:p.T412I,PLEKHG4:NM_001129729:exon9:c.C1235T:p.T412I,PLEKHG4:NM_001129727:exon10:c.C1235T:p.T412I |
RS11860295 |
Arthritis including
non-Rheumatoid:Fasting blood glucose:Cystatin C in serum:HDL
cholesterol:Height:Waist hip ratio:Gene expression of C16orf70 in blood:Gene
expression of HSD11B2///ATP6V0D1 in blood:Gene expression of TRADD in
blood:Birth weight |
|
16 |
67318242 |
1 |
PLEKHG4 |
A |
G |
exonic |
nonsynonymous SNV |
PLEKHG4:NM_001129731:exon10:c.A1331G:p.D444G,PLEKHG4:NM_001129728:exon12:c.A1574G:p.D525G,PLEKHG4:NM_001129729:exon12:c.A1574G:p.D525G,PLEKHG4:NM_001129727:exon13:c.A1574G:p.D525G |
RS8044843 |
Rheumatoid arthritis:Fasting blood
glucose:Chronic kidney disease:HDL cholesterol:Waist hip ratio:Urinary
albumin-to-creatinine ratio:Gene expression of TRADD in blood:Gene expression
of AC009061.7///ZDHHC1 in blood:Gene expression of LRRC29 in blood:Gene
expression of HSD11B2///ATP6V0D1 in blood:Hypertension (early onset
hypertension) |
|
16 |
67320223 |
1 |
PLEKHG4 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHG4:NM_001129731:exon13:c.G2246A:p.R749H,PLEKHG4:NM_001129728:exon15:c.G2489A:p.R830H,PLEKHG4:NM_001129729:exon15:c.G2489A:p.R830H,PLEKHG4:NM_001129727:exon16:c.G2489A:p.R830H |
RS3868142 |
Arthritis including
non-Rheumatoid:Fasting blood glucose:Cystatin C in serum:HDL
cholesterol:Height:Waist hip ratio:Gene expression of C16orf70 in blood:Gene
expression of TRADD in blood:Gene expression of HSD11B2///ATP6V0D1 in
blood:Bipolar disorder:Birth weight |
|
16 |
67469915 |
1 |
HSD11B2 |
G |
A |
exonic |
synonymous SNV |
HSD11B2:NM_000196:exon3:c.G534A:p.E178E |
|
16 |
67696365 |
1 |
PARD6A |
G |
A |
exonic |
nonsynonymous SNV |
PARD6A:NM_001037281:exon3:c.G853A:p.V285I,PARD6A:NM_016948:exon3:c.G856A:p.V286I |
RS35356834 |
Gene expression of HSD11B2
[transcript NM_000196, probe A_23_P14986] in liver:Myopia |
|
16 |
67867739 |
1 |
CENPT |
G |
T |
exonic |
nonsynonymous SNV |
CENPT:NM_025082:exon4:c.C24A:p.S8R |
RS11558534 |
Myopia |
|
16 |
67911517 |
1 |
EDC4 |
T |
C |
exonic |
synonymous SNV |
EDC4:NM_014329:exon6:c.T747C:p.C249C |
RS8060686 |
HDL cholesterol:Gene expression of
NUTF2 [probe 3665857] in brain cortex:Total cholesterol:HDL cholesterol:Waist
hip ratio:HDL cholesterol:Bipolar disorder:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy):HDL
in metabolic styndrome subjects without diabetes:Transmission distortion:Red
blood cell count (RBC) |
|
16 |
67969531 |
1 |
PSMB10 |
A |
G |
exonic |
synonymous SNV |
PSMB10:NM_002801:exon5:c.T453C:p.G151G |
RS14178 |
Fasting blood glucose:Serum
creatinine:Cystatin C in serum:Chronic kidney disease:Height:Myopia |
|
16 |
67969930 |
1 |
PSMB10 |
A |
G |
exonic |
synonymous SNV |
PSMB10:NM_002801:exon4:c.T319C:p.L107L |
RS20549 |
HDL cholesterol:HDL
cholesterol:Total cholesterol:Waist hip ratio:Advanced age-related macular
degeneration:Red blood cell count (RBC):Advanced age-related macular
degeneration (geographic atrophy):HDL cholesterol |
|
16 |
67973953 |
1 |
LCAT |
G |
A |
exonic |
synonymous SNV |
LCAT:NM_000229:exon6:c.C1177T:p.L393L |
RS5923 |
Cystatin C in serum:Chronic kidney
disease:Serum creatinine:Birth weight:Myopia:Parkinson's disease |
|
16 |
67980969 |
1 |
SLC12A4 |
G |
C |
exonic |
synonymous SNV |
SLC12A4:NM_001145962:exon16:c.C2118G:p.L706L,SLC12A4:NM_001145961:exon17:c.C2112G:p.L704L,SLC12A4:NM_001145963:exon17:c.C2094G:p.L698L,SLC12A4:NM_001145964:exon17:c.C2019G:p.L673L,SLC12A4:NM_005072:exon17:c.C2112G:p.L704L |
RS11860125 |
Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Height:Myopia |
|
16 |
68057096 |
2 |
DDX28 |
T |
C |
exonic |
nonsynonymous SNV |
DDX28:NM_018380:exon1:c.A10G:p.T4A |
RS237831 |
HOMA-B:Gene expression of FHOD1 in
peripheral blood monocytes:Aortic valve calcium |
|
16 |
68072004 |
1 |
DUS2 |
A |
G |
exonic |
synonymous SNV |
DUS2:NM_001271762:exon2:c.A78G:p.P26P,DUS2:NM_001271763:exon3:c.A78G:p.P26P,DUS2:NM_017803:exon3:c.A78G:p.P26P |
RS11555012 |
Myopia |
|
16 |
68293320 |
1 |
PLA2G15 |
T |
C |
exonic |
synonymous SNV |
PLA2G15:NM_012320:exon6:c.T999C:p.G333G |
RS3743739 |
HDL cholesterol:Fasting blood
glucose:Autism without verbal ability:Total cholesterol:HDL cholesterol:Red
blood cell count (RBC):HDL cholesterol:Gene expression of SLC7A6OS
(ENSG00000103061) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of PRMT7 (ENSG00000132600) in dendritic cells
treated with Mycobacterium tuberculosis |
|
16 |
68344696 |
1 |
SLC7A6OS |
C |
T |
exonic |
nonsynonymous SNV |
SLC7A6OS:NM_032178:exon1:c.G134A:p.G45D |
RS3803650 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Schizophrenia:Serum creatinine:Gene
expression of SLC7A6 in peripheral blood monocytes:HDL
cholesterol:Neuroblastoma (brain cancer):Gene expression of PRMT7 in
blood:Gene expression of ZFP90 in blood:Gene expression of SLC7A6 in
blood:Gene expression of SLC7A6///SLC7A6OS in blood:Gene expression of PRMT7
in liver:Maternal transmission distortion |
|
16 |
69354963 |
1 |
VPS4A |
A |
G |
exonic |
synonymous SNV |
VPS4A:NM_013245:exon9:c.A861G:p.K287K |
RS1127231 |
Hip bone mineral density
(BMD):Differential exon level expression of NIP7 [probe 3666699] in brain
cortex:Gene expression of NIP7 [probe ILMN_28300] in osteoblasts:Gene
expression of PDF in CD4+ lymphocytes:Gene expression of NIP7 [probe
ILMN_28300] in osteoblasts treated with dexamethasone:Gene expression of NIP7
[probe ILMN_28300] in osteoblasts treated with BMP2:Gene expression of SNTB2
in blood:Gene expression of TERF2 in blood:Gene expression of NIP7///TMED6 in
blood:Gene expression of PDF in blood:Gene expression of TMED6 in normal
prepouch ileum:Advanced age-related macular degeneration (geographic
atrophy):Parkinson's disease |
|
16 |
69782855 |
1 |
NOB1 |
C |
T |
exonic |
nonsynonymous SNV |
NOB1:NM_014062:exon6:c.G692A:p.R231Q |
RS3811348 |
Gene expression of LOC283970 in
CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-B:Serum
creatinine:Height:Adiponectin levels |
|
16 |
69967897 |
2 |
WWP2 |
T |
C |
exonic |
synonymous SNV |
WWP2:NM_199424:exon7:c.T390C:p.H130H,WWP2:NM_001270453:exon14:c.T1359C:p.H453H,WWP2:NM_001270454:exon17:c.T1707C:p.H569H,WWP2:NM_007014:exon18:c.T1707C:p.H569H |
RS2270841 |
Total cholesterol:Serum
creatinine:Triglycerides:Height:Urinary albumin-to-creatinine ratio |
|
16 |
69970329 |
2 |
WWP2 |
A |
G |
exonic |
synonymous SNV |
WWP2:NM_199424:exon9:c.A774G:p.T258T,WWP2:NM_001270453:exon16:c.A1743G:p.T581T,WWP2:NM_001270454:exon19:c.A2091G:p.T697T,WWP2:NM_007014:exon20:c.A2091G:p.T697T |
RS1983016 |
Amyotrophic lateral sclerosis
(ALS):Arthritis including non-Rheumatoid:Differential splicing of AARS
[probeset 3697019] in lymphoblastoid cell lines:Total
cholesterol:Asthma:Height:Urinary albumin-to-creatinine ratio:Gene expression
of WWP2 in blood:Gene expression of [probe 2490187 centered at
chr16:68569411] in blood:Gene expression of [probe 110364 centered at
chr16:68752008] in blood:Gene expression of PDXDC2P in normal prepouch
ileum:Gene expression of CLEC18A in normal prepouch ileum |
|
16 |
69973825 |
2 |
WWP2 |
G |
A |
exonic |
synonymous SNV |
WWP2:NM_199424:exon14:c.G1278A:p.E426E,WWP2:NM_001270453:exon21:c.G2247A:p.E749E,WWP2:NM_001270454:exon24:c.G2595A:p.E865E,WWP2:NM_007014:exon25:c.G2595A:p.E865E |
RS3748389 |
Gene expression of LOC440348 [probe
221992_at] in lymphoblastoid cell lines:Chronic kidney disease:Adiponectin
levels:Birth weight |
|
16 |
70190401 |
1 |
PDPR |
C |
T |
exonic |
synonymous SNV |
PDPR:NM_001322118:exon17:c.C1959T:p.D653D,PDPR:NM_001322119:exon17:c.C1053T:p.D351D,PDPR:NM_001322117:exon19:c.C2259T:p.D753D,PDPR:NM_017990:exon19:c.C2259T:p.D753D |
|
16 |
70287177 |
2 |
AARS |
A |
G |
exonic |
synonymous SNV |
AARS:NM_001605:exon20:c.T2715C:p.V905V |
RS4081753 |
Barnes Akathisia Rating Scale:Gene
expression of EXOSC6 in peripheral blood monocytes:Height:Urinary
albumin-to-creatinine ratio:serum testosterone:Uracil |
|
16 |
70303580 |
1 |
AARS |
G |
A |
exonic |
synonymous SNV |
AARS:NM_001605:exon7:c.C903T:p.H301H |
RS2070203 |
Gene expression of EXOSC6 [probe
3697005] in peripheral blood mononuclear cells:Differential exon level
expression of EXOSC6 [probe 3697007] in peripheral blood mononuclear
cells:Gene expression of EXOSC6 [probe 3697005] in brain cortex:EXOSC6 gene
expression in HIV-infected CD4+ T cells:HDL cholesterol change with
statins:Asthma:Height:Body mass index (BMI):Gene expression of PDPR in
liver:Gene expression of EXOSC6 [probeset 1558044_s_at] in sputum:PROP taste
detection threshold:Variant Creutzfeldt-Jakob disease:Gene expression of
EXOSC6 in normal prepouch ileum:Gene expression of EXOSC6 (probeID
ILMN_1670218) in cerebellum in Alzheimer's disease cases and
controls:Schizophrenia:Gene expression of EXOSC6 (probeID ILMN_1670218) in
temporal cortex in Alzheimer's disease cases and controls |
|
16 |
70395387 |
1 |
DDX19A |
C |
T |
exonic |
synonymous SNV |
DDX19A:NM_018332:exon5:c.C360T:p.N120N,DDX19A:NM_001320525:exon6:c.C90T:p.N30N |
RS1134074 |
HDL cholesterol change with
statins:Triglycerides change with statins |
|
16 |
70515355 |
1 |
COG4 |
C |
T |
exonic |
synonymous SNV |
COG4:NM_001195139:exon17:c.G2079A:p.S693S,COG4:NM_015386:exon18:c.G2142A:p.S714S |
|
16 |
70546234 |
1 |
COG4 |
G |
A |
exonic |
synonymous SNV |
COG4:NM_001195139:exon5:c.C646T:p.L216L,COG4:NM_015386:exon5:c.C646T:p.L216L |
RS3762171 |
Gene expression of LOC283970 in CEU
lymphoblastoid cell lines:College completion |
|
16 |
70548297 |
2 |
COG4 |
G |
A |
exonic |
nonsynonymous SNV |
COG4:NM_001195139:exon4:c.C485T:p.T162I,COG4:NM_015386:exon4:c.C485T:p.T162I |
RS3931036 |
Spine bone mineral density
(BMD):Differential exon level expression of COG4 [probe 3697153] in
peripheral blood mononuclear cells:Differential exon level expression of COG4
[probe 3697153] in brain cortex:Alzheimer's disease:Gene expression of EXOSC6
in peripheral blood monocytes:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
16 |
70602221 |
1 |
SF3B3 |
C |
T |
exonic |
synonymous SNV |
SF3B3:NM_012426:exon22:c.C2988T:p.I996I |
|
16 |
70605093 |
1 |
SF3B3 |
C |
T |
exonic |
synonymous SNV |
SF3B3:NM_012426:exon25:c.C3504T:p.F1168F |
|
16 |
70690989 |
2 |
IL34 |
G |
C |
exonic |
nonsynonymous SNV |
IL34:NM_001172771:exon5:c.G364C:p.E122Q,IL34:NM_001172772:exon5:c.G367C:p.E123Q,IL34:NM_152456:exon5:c.G367C:p.E123Q |
RS8046424 |
HDL cholesterol change with
statins:Triglycerides change with statins:HDL cholesterol change with
statins:PROP taste detection threshold:College completion |
|
16 |
71318577 |
2 |
CMTR2 |
T |
C |
exonic |
nonsynonymous SNV |
CMTR2:NM_001324378:exon2:c.A1247G:p.N416S,CMTR2:NM_001324379:exon2:c.A1247G:p.N416S,CMTR2:NM_001099642:exon3:c.A1247G:p.N416S,CMTR2:NM_001324374:exon3:c.A1247G:p.N416S,CMTR2:NM_001324377:exon3:c.A1247G:p.N416S,CMTR2:NM_018348:exon3:c.A1247G:p.N416S |
RS3803704 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Sporadic Creutzfeldt-Jakob disease:College
completion |
|
16 |
71319539 |
2 |
CMTR2 |
C |
T |
exonic |
synonymous SNV |
CMTR2:NM_001324378:exon2:c.G285A:p.A95A,CMTR2:NM_001324379:exon2:c.G285A:p.A95A,CMTR2:NM_001099642:exon3:c.G285A:p.A95A,CMTR2:NM_001324374:exon3:c.G285A:p.A95A,CMTR2:NM_001324377:exon3:c.G285A:p.A95A,CMTR2:NM_018348:exon3:c.G285A:p.A95A |
RS3826247 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Gene expression of AC106736.3 in blood:Obesity
with early age of onset (age >2):Hypertension (early onset
hypertension):Refractive error |
|
16 |
71319646 |
2 |
CMTR2 |
G |
A |
exonic |
nonsynonymous SNV |
CMTR2:NM_001324378:exon2:c.C178T:p.L60F,CMTR2:NM_001324379:exon2:c.C178T:p.L60F,CMTR2:NM_001099642:exon3:c.C178T:p.L60F,CMTR2:NM_001324374:exon3:c.C178T:p.L60F,CMTR2:NM_001324377:exon3:c.C178T:p.L60F,CMTR2:NM_018348:exon3:c.C178T:p.L60F |
RS3096380 |
HOMA-B:Years of education:College
completion |
|
16 |
71487206 |
2 |
ZNF23 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF23:NM_001304492:exon4:c.A82G:p.S28G,ZNF23:NM_145911:exon5:c.A82G:p.S28G |
RS2070832 |
Serum creatinine:Waist hip
ratio:Late onset Alzheimer's disease:Gene expression of PHLPPL in blood:PROP
taste detection threshold:Gene expression of ZNF19 in normal prepouch ileum |
|
16 |
71509085 |
1 |
ZNF19 |
G |
C |
exonic |
synonymous SNV |
ZNF19:NM_006961:exon6:c.C1365G:p.P455P |
|
16 |
71509685 |
2 |
ZNF19 |
C |
G |
exonic |
synonymous SNV |
ZNF19:NM_006961:exon6:c.G765C:p.T255T |
RS2288489 |
Gene expression of ZNF449 in
peripheral blood monocytes:Waist hip ratio |
|
16 |
71509796 |
2 |
ZNF19 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF19:NM_006961:exon6:c.G654C:p.Q218H |
RS8050871 |
HDL cholesterol:Waist hip ratio |
|
16 |
71682796 |
2 |
PHLPP2 |
T |
C |
exonic |
synonymous SNV |
PHLPP2:NM_001289003:exon18:c.A3768G:p.L1256L,PHLPP2:NM_015020:exon19:c.A3969G:p.L1323L |
RS61733125 |
Serum Phe/Tyr:Serum Ala/Tyr |
|
16 |
71773190 |
2 |
AP1G1 |
G |
T |
exonic |
nonsynonymous SNV |
AP1G1:NM_001128:exon20:c.C2054A:p.P685H,AP1G1:NM_001030007:exon21:c.C2063A:p.P688H |
RS904763 |
Hip bone mineral density
(BMD):Methylation levels at chrX:64112953-64113003 [hg18 coord, probe
cg23926715] in Temporal cortex:Late onset Alzheimer's disease:Gene expression
of AP1G1 in blood:Age at death with kuru exposure:Aortic valve calcium:Serum
Ala/Tyr:Serum Phe/Tyr |
|
16 |
71950450 |
2 |
IST1 |
C |
T |
exonic |
synonymous SNV |
IST1:NM_001270975:exon3:c.C174T:p.H58H,IST1:NM_001270977:exon3:c.C174T:p.H58H,IST1:NM_014761:exon3:c.C174T:p.H58H,IST1:NM_001270976:exon4:c.C213T:p.H71H |
|
16 |
72130203 |
2 |
DHX38 |
C |
G |
exonic |
synonymous SNV |
DHX38:NM_014003:exon2:c.C147G:p.L49L |
RS1050361 |
Gene expression of DHX38 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in
Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe
cg23815491] in Temporal cortex:Methylation levels at chr16:70646123-70646173
[hg18 coord, probe cg23815491] in Frontal cortex:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:Total
cholesterol:LDL cholesterol:Triglycerides:Body mass index (BMI):Obesity (body
mass index (BMI)):Coronary artery disease (CAD):Advanced age-related macular
degeneration (geographic atrophy):Gene expression of DHX38 (ENSG00000140829)
in dendritic cells |
|
16 |
72130815 |
2 |
DHX38 |
C |
A |
exonic |
synonymous SNV |
DHX38:NM_014003:exon3:c.C418A:p.R140R |
RS1050362 |
Gene expression of DHX38 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal
pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe
cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173
[hg18 coord, probe cg23815491] in Cerebellum:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal
cortex:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Obesity (body mass index (BMI)):Body mass index (BMI):Coronary artery
disease (CAD):Gene expression of DHX38 in normal prepouch ileum:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
16 |
72135014 |
1 |
DHX38 |
T |
C |
exonic |
synonymous SNV |
DHX38:NM_014003:exon10:c.T1308C:p.A436A |
RS1050363 |
Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in
Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe
cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173
[hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:LDL
cholesterol:Triglycerides:Total cholesterol:Coronary artery disease
(CAD):Gene expression of DHX38 in normal prepouch ileum:Obesity with early
age of onset (age >2) |
|
16 |
72137561 |
1 |
DHX38 |
G |
A |
exonic |
synonymous SNV |
DHX38:NM_014003:exon13:c.G1698A:p.T566T |
RS2240243 |
Gene expression of DHX38 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal
pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe
cg23815491] in Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18
coord, probe cg23815491] in Temporal cortex:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Gene
expression of HP in peripheral blood monocytes:Gene expression of DHX38 in
peripheral blood monocytes:LDL cholesterol:Triglycerides:Total
cholesterol:Body mass index (BMI):Obesity (body mass index (BMI)):Body mass
index (BMI):Gene expression of DHX38 in normal prepouch ileum:Aortic valve
calcium:Coronary artery disease (CAD) |
|
16 |
72139184 |
2 |
DHX38 |
C |
A |
exonic |
synonymous SNV |
DHX38:NM_014003:exon17:c.C2316A:p.A772A |
RS2074626 |
Gene expression of DHX38 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal
pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe
cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173
[hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at
chr16:70646123-70646173 [hg18 coord, probe cg23815491] in
Cerebellum:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Body mass index (BMI):Obesity (body mass index (BMI)):Aortic valve
calcium:Coronary artery disease (CAD):Gene expression of DHX38 in normal
prepouch ileum |
|
16 |
72991660 |
2 |
ZFHX3 |
C |
G |
exonic |
synonymous SNV |
ZFHX3:NM_006885:exon2:c.G2385C:p.P795P |
|
16 |
74490556 |
1 |
GLG1 |
G |
A |
exonic |
synonymous SNV |
GLG1:NM_001145666:exon24:c.C3330T:p.Y1110Y,GLG1:NM_001145667:exon25:c.C3363T:p.Y1121Y,GLG1:NM_012201:exon25:c.C3363T:p.Y1121Y |
RS9945 |
Parkinson's disease |
|
16 |
74499589 |
1 |
GLG1 |
G |
A |
exonic |
synonymous SNV |
GLG1:NM_001145666:exon18:c.C2619T:p.C873C,GLG1:NM_001145667:exon19:c.C2652T:p.C884C,GLG1:NM_012201:exon19:c.C2652T:p.C884C |
|
16 |
74537591 |
1 |
GLG1 |
C |
T |
exonic |
synonymous SNV |
GLG1:NM_001145666:exon3:c.G579A:p.L193L,GLG1:NM_001145667:exon4:c.G612A:p.L204L,GLG1:NM_012201:exon4:c.G612A:p.L204L |
RS4887772 |
LDL cholesterol:2 hour
glucose:Fasting blood glucose:Fasting insulin:Chronic kidney disease:Total
cholesterol:Infant head circumference |
|
16 |
74664810 |
1 |
RFWD3 |
A |
T |
exonic |
synonymous SNV |
RFWD3:NM_018124:exon10:c.T1623A:p.P541P |
|
16 |
74695079 |
1 |
RFWD3 |
G |
T |
exonic |
nonsynonymous SNV |
RFWD3:NM_018124:exon2:c.C269A:p.T90N |
RS8058922 |
Height in
controls:Schizophrenia:Differential exon level expression of GLG1 [probe
3699026] in brain cortex:Differential exon level expression of RFWD3 [probe
3699056] in brain cortex:2 hour glucose:Fasting blood glucose:Gene expression
of RFWD3 in peripheral blood monocytes:Asthma:Gene expression of RFWD3 in
blood:Gene expression of MLKL in blood:Gene expression of GLG1 in blood:Gene
expression of HS.542999 (probeID ILMN_1899902) in breast tumors:Parkinson's
disease:Paternal transmission distortion:Infant head circumference |
|
16 |
75146266 |
1 |
LDHD |
G |
T |
exonic |
synonymous SNV |
LDHD:NM_153486:exon11:c.C1512A:p.G504G,LDHD:NM_194436:exon11:c.C1443A:p.G481G |
|
16 |
75269267 |
2 |
BCAR1 |
A |
G |
exonic |
synonymous SNV |
BCAR1:NM_001170721:exon4:c.T900C:p.A300A,BCAR1:NM_001170715:exon5:c.T1584C:p.A528A,BCAR1:NM_001170716:exon5:c.T1584C:p.A528A,BCAR1:NM_001170717:exon5:c.T1584C:p.A528A,BCAR1:NM_001170718:exon5:c.T1530C:p.A510A,BCAR1:NM_001170719:exon5:c.T1524C:p.A508A,BCAR1:NM_014567:exon5:c.T1530C:p.A510A,BCAR1:NM_001170714:exon6:c.T1668C:p.A556A,BCAR1:NM_001170720:exon6:c.T1086C:p.A362A |
RS3169330 |
HDL cholesterol:Aortic valve
calcium:Gene expression of CTRB2 (probeID ILMN_1767643) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of CTRB2 (probeID
ILMN_1767643) in temporal cortex in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
16 |
75276583 |
1 |
BCAR1 |
G |
T |
exonic |
nonsynonymous SNV |
BCAR1:NM_001170715:exon2:c.C472A:p.P158T,BCAR1:NM_001170716:exon2:c.C472A:p.P158T,BCAR1:NM_001170717:exon2:c.C418A:p.P140T,BCAR1:NM_001170718:exon2:c.C418A:p.P140T,BCAR1:NM_001170719:exon2:c.C412A:p.P138T,BCAR1:NM_014567:exon2:c.C418A:p.P140T,BCAR1:NM_001170714:exon3:c.C556A:p.P186T |
|
16 |
75276775 |
2 |
BCAR1 |
G |
A |
exonic |
nonsynonymous SNV |
BCAR1:NM_001170715:exon2:c.C280T:p.P94S,BCAR1:NM_001170716:exon2:c.C280T:p.P94S,BCAR1:NM_001170717:exon2:c.C226T:p.P76S,BCAR1:NM_001170718:exon2:c.C226T:p.P76S,BCAR1:NM_001170719:exon2:c.C220T:p.P74S,BCAR1:NM_014567:exon2:c.C226T:p.P76S,BCAR1:NM_001170714:exon3:c.C364T:p.P122S |
|
16 |
75327916 |
2 |
CFDP1 |
A |
G |
exonic |
synonymous SNV |
CFDP1:NM_006324:exon7:c.T834C:p.L278L |
RS6624 |
Differential exon level expression
of CFDP1 [probe 3699511] in peripheral blood mononuclear cells:Gene
expression of FGF6 in peripheral blood monocytes:Gene expression of RHPN1 in
peripheral blood monocytes:Gene expression of PPP5C in peripheral blood monocytes:Neuroblastoma
(brain cancer):Gene expression of CFDP1 in blood:Systolic blood pressure
(SBP):Birth weight |
|
16 |
77228629 |
2 |
MON1B |
A |
G |
exonic |
synonymous SNV |
MON1B:NM_001286640:exon2:c.A435G:p.R145R,MON1B:NM_001286639:exon3:c.A546G:p.R182R,MON1B:NM_014940:exon4:c.A873G:p.R291R |
|
16 |
77228866 |
1 |
MON1B |
T |
C |
exonic |
synonymous SNV |
MON1B:NM_001286640:exon2:c.T672C:p.V224V,MON1B:NM_001286639:exon3:c.T783C:p.V261V,MON1B:NM_014940:exon4:c.T1110C:p.V370V |
RS2232504 |
Gene expression of HSRG1 probe
[GI_38016939-S] in brain cortex with no Alzheimer's interaction:Gene
expression of MON1B in peripheral blood monocytes:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's
disease |
|
16 |
77233394 |
2 |
SYCE1L |
A |
G |
exonic |
nonsynonymous SNV |
SYCE1L:NM_001129979:exon1:c.A46G:p.T16A,SYCE1L:NM_001348924:exon1:c.A46G:p.T16A |
|
16 |
77769834 |
1 |
NUDT7 |
G |
A |
exonic |
nonsynonymous SNV |
NUDT7:NM_001105663:exon3:c.G299A:p.R100H,NUDT7:NM_001243657:exon3:c.G299A:p.R100H |
RS308925 |
Rheumatoid
arthritis:Schizophrenia:Total cholesterol:HDL cholesterol change with
statins:Mitral annular calcium:Years of education:College completion |
|
16 |
81061827 |
2 |
CENPN |
G |
A |
exonic |
nonsynonymous SNV |
CENPN:NM_001270473:exon9:c.G802A:p.E268K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K |
RS2549887 |
Spine bone mineral density
(BMD):Eye color:Serum creatinine:Gene expression of CENPN in blood:Gene
expression of C16orf61 in blood:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Bipolar disorder:Gene expression of CENPN (probeID ILMN_1720526)
in cerebellum in non-Alzheimer's disease samples:Gene expression of CENPN
(probeID ILMN_1720526) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of CENPN (probeID ILMN_1720526) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of CENPN (probeID
ILMN_1720526) in cerebellum in Alzheimer's disease cases:Gene expression of
CENPN (probeID ILMN_1720526) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of CENPN (probeID ILMN_1720526) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of CENPN (probeID
ILMN_1720526) in temporal cortex in Alzheimer's disease cases:Paternal
transmission distortion:Transmission distortion |
|
16 |
81077915 |
2 |
ATMIN |
T |
C |
exonic |
synonymous SNV |
ATMIN:NM_001300728:exon4:c.T1344C:p.A448A,ATMIN:NM_015251:exon4:c.T1812C:p.A604A |
RS2257378 |
Triglycerides:Taste change in
healthy volunteers in response to topiramate treatment (Less sweet) |
|
16 |
81129822 |
2 |
GCSH |
G |
A |
exonic |
nonsynonymous SNV |
GCSH:NM_004483:exon1:c.C62T:p.S21L |
|
16 |
83999033 |
1 |
OSGIN1 |
A |
G |
exonic |
synonymous SNV |
OSGIN1:NM_182981:exon6:c.A855G:p.S285S |
|
16 |
83999261 |
1 |
OSGIN1 |
C |
A |
exonic |
synonymous SNV |
OSGIN1:NM_182981:exon6:c.C1083A:p.L361L |
|
16 |
83999548 |
1 |
OSGIN1 |
T |
C |
exonic |
nonsynonymous SNV |
OSGIN1:NM_182981:exon6:c.T1370C:p.V457A |
|
16 |
84115393 |
1 |
MBTPS1 |
G |
A |
exonic |
synonymous SNV |
MBTPS1:NM_003791:exon11:c.C1407T:p.L469L |
RS12933523 |
Chronic kidney disease:Systolic
blood pressure (SBP):Birth weight |
|
16 |
84158248 |
1 |
HSDL1 |
G |
C |
exonic |
nonsynonymous SNV |
HSDL1:NM_031463:exon6:c.C980G:p.S327C,HSDL1:NM_001146051:exon7:c.C815G:p.S272C |
RS4378600 |
Serum creatinine:Waist hip
ratio:Adiponectin levels |
|
16 |
84213652 |
1 |
TAF1C |
G |
A |
exonic |
synonymous SNV |
TAF1C:NM_001243158:exon10:c.C603T:p.P201P,TAF1C:NM_001243157:exon11:c.C603T:p.P201P,TAF1C:NM_001243160:exon11:c.C168T:p.P56P,TAF1C:NM_001243159:exon13:c.C372T:p.P124P,TAF1C:NM_005679:exon13:c.C1599T:p.P533P,TAF1C:NM_001243156:exon14:c.C1521T:p.P507P,TAF1C:NM_139353:exon14:c.C1317T:p.P439P |
|
16 |
84217062 |
2 |
TAF1C |
C |
T |
exonic |
nonsynonymous SNV |
TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y |
|
16 |
84520325 |
2 |
TLDC1 |
T |
C |
exonic |
synonymous SNV |
TLDC1:NM_020947:exon5:c.A870G:p.G290G |
RS431389 |
Serum creatinine |
|
16 |
84520396 |
2 |
TLDC1 |
A |
G |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon5:c.T799C:p.C267R |
|
16 |
84520537 |
2 |
TLDC1 |
T |
C |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon5:c.A658G:p.I220V |
|
16 |
84691044 |
1 |
KLHL36 |
C |
T |
exonic |
synonymous SNV |
KLHL36:NM_001303451:exon3:c.C631T:p.L211L,KLHL36:NM_024731:exon3:c.C631T:p.L211L |
RS3751762 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression of KLHL36 (probeID ILMN_1703314) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
KLHL36 (probeID ILMN_1703314) in cerebellum in Alzheimer's disease cases and
controls |
|
16 |
84778685 |
1 |
USP10 |
A |
G |
exonic |
nonsynonymous SNV |
USP10:NM_005153:exon4:c.A598G:p.M200V,USP10:NM_001272075:exon5:c.A610G:p.M204V |
|
16 |
84796603 |
1 |
USP10 |
A |
G |
exonic |
synonymous SNV |
USP10:NM_005153:exon9:c.A1563G:p.Q521Q,USP10:NM_001272075:exon10:c.A1575G:p.Q525Q |
|
16 |
85009970 |
2 |
ZDHHC7 |
A |
G |
exonic |
synonymous SNV |
ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G |
RS7195377 |
HDL cholesterol |
|
16 |
85015541 |
2 |
ZDHHC7 |
G |
A |
exonic |
synonymous SNV |
ZDHHC7:NM_017740:exon4:c.C375T:p.P125P,ZDHHC7:NM_001145548:exon5:c.C486T:p.P162P |
RS16975086 |
Waist hip ratio:Obesity with early
age of onset (age >2) |
|
16 |
85694968 |
1 |
GSE1 |
C |
T |
exonic |
synonymous SNV |
GSE1:NM_001134473:exon8:c.C1545T:p.A515A,GSE1:NM_001278184:exon8:c.C1638T:p.A546A,GSE1:NM_014615:exon9:c.C1857T:p.A619A |
|
16 |
85838653 |
2 |
COX4I1 |
T |
C |
exonic |
synonymous SNV |
COX4I1:NM_001318786:exon3:c.T184C:p.L62L,COX4I1:NM_001318788:exon3:c.T184C:p.L62L,COX4I1:NM_001318794:exon3:c.T184C:p.L62L,COX4I1:NM_001318797:exon3:c.T70C:p.L24L,COX4I1:NM_001861:exon3:c.T184C:p.L62L |
RS2599091 |
Simpson-Angus Scale |
|
16 |
86565826 |
2 |
MTHFSD |
C |
G |
exonic |
nonsynonymous SNV |
MTHFSD:NM_001159377:exon8:c.G943C:p.G315R,MTHFSD:NM_001159378:exon8:c.G943C:p.G315R,MTHFSD:NM_001159379:exon8:c.G940C:p.G314R,MTHFSD:NM_001159380:exon8:c.G883C:p.G295R,MTHFSD:NM_022764:exon8:c.G940C:p.G314R |
RS3751803 |
Total cholesterol |
|
16 |
86565882 |
2 |
MTHFSD |
G |
C |
exonic |
nonsynonymous SNV |
MTHFSD:NM_001159377:exon8:c.C887G:p.S296C,MTHFSD:NM_001159378:exon8:c.C887G:p.S296C,MTHFSD:NM_001159379:exon8:c.C884G:p.S295C,MTHFSD:NM_001159380:exon8:c.C827G:p.S276C,MTHFSD:NM_022764:exon8:c.C884G:p.S295C |
RS3751802 |
College completion |
|
16 |
87445363 |
1 |
ZCCHC14 |
G |
A |
exonic |
synonymous SNV |
ZCCHC14:NM_015144:exon12:c.C2553T:p.H851H |
|
16 |
87445839 |
1 |
ZCCHC14 |
C |
T |
exonic |
nonsynonymous SNV |
ZCCHC14:NM_015144:exon12:c.G2077A:p.V693M |
RS3748400 |
Acute insulin response to
glucose:Insulin sensitivity index:Acute insulin response:Pulse pressure:Gene
expression of MAP1LC3B in blood:Bipolar disorder:Years of education:College
completion:Nicotine dependence (smoking):Transmission distortion:Maternal transmission
distortion |
|
16 |
87446053 |
1 |
ZCCHC14 |
G |
A |
exonic |
synonymous SNV |
ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A |
RS2042395 |
Years of education:College
completion |
|
16 |
87782396 |
1 |
KLHDC4 |
C |
A |
exonic |
nonsynonymous SNV |
KLHDC4:NM_001184854:exon3:c.G218T:p.G73V,KLHDC4:NM_001184856:exon5:c.G389T:p.G130V,KLHDC4:NM_017566:exon5:c.G389T:p.G130V |
|
16 |
87788836 |
1 |
KLHDC4 |
G |
A |
exonic |
synonymous SNV |
KLHDC4:NM_001184854:exon2:c.C162T:p.D54D,KLHDC4:NM_001184856:exon4:c.C333T:p.D111D,KLHDC4:NM_017566:exon4:c.C333T:p.D111D |
RS17699859 |
Autism without verbal ability:Birth
weight |
|
16 |
87788864 |
2 |
KLHDC4 |
G |
A |
exonic |
nonsynonymous SNV |
KLHDC4:NM_001184854:exon2:c.C134T:p.T45I,KLHDC4:NM_001184856:exon4:c.C305T:p.T102I,KLHDC4:NM_017566:exon4:c.C305T:p.T102I |
RS2303771 |
Gene expression of LOC100129637
[probe 229035_s_at] in lymphoblastoid cell lines:Serum creatinine:Lp-PLA2
mass:Lp-PLA2 activity:Gene expression of KLHDC4 in peripheral blood
monocytes:College completion:Years of education |
|
16 |
87795580 |
1 |
KLHDC4 |
G |
C |
exonic |
nonsynonymous SNV |
KLHDC4:NM_001184856:exon2:c.C166G:p.L56V,KLHDC4:NM_017566:exon2:c.C166G:p.L56V |
RS2303772 |
Barnes Akathisia Rating
Scale:Lp-PLA2 mass:Diastolic blood pressure (DBP):Birth weight |
|
16 |
88017809 |
2 |
BANP |
C |
T |
exonic |
synonymous SNV |
BANP:NM_001173539:exon4:c.C306T:p.V102V,BANP:NM_001173540:exon4:c.C324T:p.V108V,BANP:NM_001173541:exon4:c.C306T:p.V102V,BANP:NM_001173542:exon4:c.C306T:p.V102V,BANP:NM_001173543:exon4:c.C282T:p.V94V,BANP:NM_017869:exon4:c.C306T:p.V102V,BANP:NM_079837:exon4:c.C306T:p.V102V |
|
16 |
88052161 |
1 |
BANP |
C |
A |
exonic |
synonymous SNV |
BANP:NM_001173540:exon6:c.C684A:p.L228L,BANP:NM_001173541:exon6:c.C666A:p.L222L,BANP:NM_017869:exon6:c.C666A:p.L222L,BANP:NM_079837:exon6:c.C666A:p.L222L,BANP:NM_001173539:exon7:c.C783A:p.L261L,BANP:NM_001173542:exon7:c.C783A:p.L261L,BANP:NM_001173543:exon7:c.C759A:p.L253L |
RS7499814 |
Gene expression change of CA5A
(ENSG00000174990) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of CA5A (ENSG00000174990) in dendritic cells |
|
16 |
88061150 |
1 |
BANP |
C |
T |
exonic |
synonymous SNV |
BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I |
|
16 |
88105725 |
1 |
BANP |
G |
A |
exonic |
synonymous SNV |
BANP:NM_001173541:exon11:c.G1236A:p.A412A,BANP:NM_017869:exon11:c.G1245A:p.A415A,BANP:NM_001173539:exon12:c.G1353A:p.A451A,BANP:NM_001173540:exon12:c.G1329A:p.A443A,BANP:NM_001173542:exon12:c.G1362A:p.A454A,BANP:NM_079837:exon12:c.G1311A:p.A437A,BANP:NM_001173543:exon13:c.G1395A:p.A465A |
RS8050209 |
Comorbid depressive syndrome and
alcohol dependence |
|
16 |
88601360 |
1 |
ZFPM1 |
C |
T |
exonic |
synonymous SNV |
ZFPM1:NM_153813:exon10:c.C2994T:p.S998S |
|
16 |
88644005 |
2 |
ZC3H18 |
A |
G |
exonic |
synonymous SNV |
ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K |
|
16 |
88709828 |
2 |
CYBA |
A |
G |
exonic |
nonsynonymous SNV |
CYBA:NM_000101:exon6:c.T521C:p.V174A |
|
16 |
88713236 |
2 |
CYBA |
A |
G |
exonic |
nonsynonymous SNV |
CYBA:NM_000101:exon4:c.T214C:p.Y72H |
RS4673 |
Abnormal Involuntary Movement
Scale:Tardive dyskinesia:Serum creatinine:Autism with verbal
ability:Height:Gene expression of CYBA in blood |
|
16 |
88717386 |
2 |
CYBA |
T |
C |
exonic |
synonymous SNV |
CYBA:NM_000101:exon1:c.A36G:p.E12E |
|
16 |
88779739 |
1 |
CTU2 |
A |
G |
exonic |
nonsynonymous SNV |
CTU2:NM_001318513:exon7:c.A496G:p.M166V,CTU2:NM_001012759:exon8:c.A757G:p.M253V,CTU2:NM_001012762:exon8:c.A757G:p.M253V,CTU2:NM_001318507:exon8:c.A970G:p.M324V |
|
16 |
88781040 |
1 |
CTU2 |
A |
G |
exonic |
nonsynonymous SNV |
CTU2:NM_001318513:exon11:c.A986G:p.Q329R,CTU2:NM_001012759:exon12:c.A1247G:p.Q416R,CTU2:NM_001012762:exon12:c.A1247G:p.Q416R,CTU2:NM_001318507:exon12:c.A1460G:p.Q487R |
RS8059048 |
Premature ovarian failure:Gene
expression of SNAI3 in CD4+ lymphocytes:Neuroblastoma (brain
cancer):Microalbuminuria:Gene expression of RNF166 in blood:Gene expression
of SNAI3 in blood:Gene expression of RNF166 (ENSG00000158717) in dendritic
cells |
|
16 |
88781125 |
2 |
CTU2 |
T |
C |
exonic |
synonymous SNV |
CTU2:NM_001318513:exon11:c.T1071C:p.C357C,CTU2:NM_001012759:exon12:c.T1332C:p.C444C,CTU2:NM_001012762:exon12:c.T1332C:p.C444C,CTU2:NM_001318507:exon12:c.T1545C:p.C515C |
|
16 |
88781614 |
1 |
CTU2 |
G |
C |
exonic |
nonsynonymous SNV |
CTU2:NM_001012762:exon14:c.G1444C:p.G482R |
|
16 |
88782676 |
2 |
PIEZO1 |
A |
G |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon49:c.T7059C:p.P2353P |
RS2290902 |
Hip bone mineral density
(BMD):Fasting insulin:HOMA-IR:Bicuspid aortic valve:Height:Body mass index
(BMI):Neuroblastoma (brain cancer):Gene expression of RNF166 in blood:Gene
expression of C16orf84///FAM38A in blood:Primary rhegmatogenous retinal
detachment:Transmission distortion |
|
16 |
88783100 |
1 |
PIEZO1 |
T |
C |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon47:c.A6793G:p.I2265V |
RS1803382 |
Fasting blood glucose:Height:Gene
expression of C16orf84///FAM38A in blood:Gene expression of SNAI3 in
blood:Tetrology of fallot:Gene expression of APRT (ENSG00000198931) in
dendritic cells treated with Mycobacterium tuberculosis |
|
16 |
88783449 |
1 |
PIEZO1 |
C |
G |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon45:c.G6642C:p.L2214L |
|
16 |
88783521 |
2 |
PIEZO1 |
T |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P |
|
16 |
88787673 |
1 |
PIEZO1 |
G |
A |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon39:c.C5569T:p.P1857S |
|
16 |
88787704 |
2 |
PIEZO1 |
G |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A |
|
16 |
88788362 |
1 |
PIEZO1 |
G |
A |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon37:c.C5068T:p.L1690F |
|
16 |
88791458 |
1 |
PIEZO1 |
G |
A |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon30:c.C4193T:p.P1398L |
|
16 |
88792047 |
2 |
PIEZO1 |
A |
G |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon28:c.T4014C:p.F1338F |
RS4782430 |
Serum creatinine:Bipolar disorder
versus schizophrenia:Gene expression of FAM38A in peripheral blood
monocytes:Gene expression of SNAI3 in peripheral blood monocytes |
|
16 |
88803982 |
1 |
PIEZO1 |
C |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon10:c.G1180C:p.V394L |
RS6500493 |
Height:PROP taste detection
threshold |
|
16 |
88804734 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon7:c.T749C:p.V250A |
RS7184427 |
LDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Triglycerides change with statins:Height |
|
16 |
88808743 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon3:c.T248C:p.I83T |
RS6500495 |
Gene expression of SNAI3 in
peripheral blood monocytes |
|
16 |
88872145 |
2 |
CDT1 |
T |
C |
exonic |
nonsynonymous SNV |
CDT1:NM_030928:exon5:c.T700C:p.C234R |
|
16 |
88872229 |
1 |
CDT1 |
A |
G |
exonic |
nonsynonymous SNV |
CDT1:NM_030928:exon5:c.A784G:p.T262A |
RS480727 |
Eye color:Total cholesterol:Gene
expression of APRT in blood:Gene expression of TRAPPC2L in blood |
|
16 |
88872511 |
2 |
CDT1 |
T |
C |
exonic |
synonymous SNV |
CDT1:NM_030928:exon6:c.T915C:p.H305H |
RS510862 |
Rheumatoid arthritis:2 hour
glucose:Total cholesterol:LDL cholesterol:Age at death with kuru
exposure:Salmonella-induced pyroptosis:Gene expression of CTU2
(ENSG00000174177) in dendritic cells treated with Mycobacterium tuberculosis |
|
16 |
88874632 |
1 |
CDT1 |
C |
G |
exonic |
synonymous SNV |
CDT1:NM_030928:exon10:c.C1587G:p.L529L |
|
16 |
88884466 |
1 |
GALNS |
C |
T |
exonic |
synonymous SNV |
GALNS:NM_001323543:exon12:c.G876A:p.E292E,GALNS:NM_000512:exon13:c.G1431A:p.E477E,GALNS:NM_001323544:exon14:c.G1449A:p.E483E |
|
16 |
88902183 |
1 |
GALNS |
G |
A |
exonic |
synonymous SNV |
GALNS:NM_001323543:exon6:c.C153T:p.H51H,GALNS:NM_000512:exon7:c.C708T:p.H236H,GALNS:NM_001323544:exon8:c.C726T:p.H242H |
RS1064315 |
HDL cholesterol |
|
16 |
89167094 |
2 |
ACSF3 |
T |
C |
exonic |
nonsynonymous SNV |
ACSF3:NM_001127214:exon2:c.T5C:p.L2P,ACSF3:NM_001243279:exon3:c.T5C:p.L2P,ACSF3:NM_174917:exon3:c.T5C:p.L2P |
RS7188200 |
Gene expression of LOC197322 in
CHB-JPT lymphoblastoid cell lines:Gene expression of ACSF3 [probe 3673806] in
brain cortex:Waist hip ratio:Gene expression of CBFA2T3///ENST00000378347 in
blood:Infant head circumference:Advanced age-related macular degeneration
(geographic atrophy) |
|
16 |
89167140 |
2 |
ACSF3 |
G |
C |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.G51C:p.A17A,ACSF3:NM_001243279:exon3:c.G51C:p.A17A,ACSF3:NM_174917:exon3:c.G51C:p.A17A |
|
16 |
89167395 |
2 |
ACSF3 |
C |
T |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.C306T:p.C102C,ACSF3:NM_001243279:exon3:c.C306T:p.C102C,ACSF3:NM_174917:exon3:c.C306T:p.C102C |
|
16 |
89167404 |
2 |
ACSF3 |
T |
C |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.T315C:p.D105D,ACSF3:NM_001243279:exon3:c.T315C:p.D105D,ACSF3:NM_174917:exon3:c.T315C:p.D105D |
|
16 |
89167443 |
2 |
ACSF3 |
T |
C |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.T354C:p.S118S,ACSF3:NM_001243279:exon3:c.T354C:p.S118S,ACSF3:NM_174917:exon3:c.T354C:p.S118S |
RS6500528 |
Gene expression of ACSF3 in liver |
|
16 |
89167458 |
2 |
ACSF3 |
C |
A |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.C369A:p.V123V,ACSF3:NM_001243279:exon3:c.C369A:p.V123V,ACSF3:NM_174917:exon3:c.C369A:p.V123V |
|
16 |
89262431 |
1 |
SLC22A31 |
G |
A |
exonic |
synonymous SNV |
SLC22A31:NM_001242757:exon8:c.C993T:p.A331A |
|
16 |
89265095 |
1 |
SLC22A31 |
C |
T |
exonic |
nonsynonymous SNV |
SLC22A31:NM_001242757:exon4:c.G239A:p.G80E |
|
16 |
89265101 |
1 |
SLC22A31 |
C |
A |
exonic |
nonsynonymous SNV |
SLC22A31:NM_001242757:exon4:c.G233T:p.G78V |
|
16 |
89265466 |
1 |
SLC22A31 |
A |
G |
exonic |
synonymous SNV |
SLC22A31:NM_001242757:exon3:c.T93C:p.G31G |
|
16 |
89294184 |
2 |
ZNF778 |
G |
A |
exonic |
synonymous SNV |
ZNF778:NM_182531:exon6:c.G1404A:p.A468A,ZNF778:NM_001201407:exon7:c.G1488A:p.A496A |
|
16 |
89346774 |
1 |
ANKRD11 |
G |
T |
exonic |
nonsynonymous SNV |
ANKRD11:NM_001256183:exon9:c.C6176A:p.P2059H,ANKRD11:NM_013275:exon9:c.C6176A:p.P2059H,ANKRD11:NM_001256182:exon10:c.C6176A:p.P2059H |
|
16 |
89348038 |
1 |
ANKRD11 |
G |
C |
exonic |
nonsynonymous SNV |
ANKRD11:NM_001256183:exon9:c.C4912G:p.P1638A,ANKRD11:NM_013275:exon9:c.C4912G:p.P1638A,ANKRD11:NM_001256182:exon10:c.C4912G:p.P1638A |
|
16 |
89350038 |
1 |
ANKRD11 |
G |
A |
exonic |
nonsynonymous SNV |
ANKRD11:NM_001256183:exon9:c.C2912T:p.A971V,ANKRD11:NM_013275:exon9:c.C2912T:p.A971V,ANKRD11:NM_001256182:exon10:c.C2912T:p.A971V |
RS2279348 |
Serum creatinine:Mitral annular
calcium |
|
16 |
89350178 |
1 |
ANKRD11 |
G |
A |
exonic |
synonymous SNV |
ANKRD11:NM_001256183:exon9:c.C2772T:p.T924T,ANKRD11:NM_013275:exon9:c.C2772T:p.T924T,ANKRD11:NM_001256182:exon10:c.C2772T:p.T924T |
RS2279349 |
Eye color |
|
16 |
89704365 |
1 |
DPEP1 |
G |
C |
exonic |
nonsynonymous SNV |
DPEP1:NM_001128141:exon10:c.G1051C:p.E351Q,DPEP1:NM_004413:exon10:c.G1051C:p.E351Q |
RS1126464 |
Plasma homocysteine:Triglycerides |
|
16 |
89764549 |
1 |
SPATA2L |
G |
A |
exonic |
synonymous SNV |
SPATA2L:NM_152339:exon3:c.C468T:p.F156F |
RS3751695 |
Hair color (red):Eye color:Hair
color (black versus red):Hair color (red):Skin freckles:Hair color
(red):Freckles+burns vs. no freckles+tans:Burns vs. tans:HDL cholesterol:Area
adjusted bone mineral content:Height:Gene expression of SPATA2L (ENSG00000158792)
in dendritic cells:Gene expression of CDK10 (ENSG00000185324) in dendritic
cells:Gene expression change of C16orf7 (ENSG00000075399) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
16 |
89777761 |
1 |
VPS9D1 |
C |
T |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon9:c.G807A:p.V269V |
|
16 |
89782989 |
2 |
VPS9D1 |
A |
G |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon4:c.T312C:p.I104I |
RS7206570 |
Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol
dependence |
|
16 |
89783187 |
2 |
VPS9D1 |
C |
T |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon3:c.G219A:p.K73K |
|
16 |
89789898 |
1 |
ZNF276 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF276:NM_001113525:exon4:c.T787C:p.W263R,ZNF276:NM_152287:exon4:c.T562C:p.W188R |
RS6500437 |
Gene expression of FANCA in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of FANCA [probe
203805_s_at] in lymphoblastoid cell lines:Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Eye color:Hair color
(red):Differential exon level expression of ZNF276 [probe 3674360] in
peripheral blood mononuclear cells:Fasting blood glucose:Hair color
(red):Triglycerides:Height:Gene expression of C16orf7 in blood:Gene
expression of CDK10///C16orf76 in blood:Gene expression of SPIRE2 in blood:Bipolar
disorder:Age at death with kuru exposure:Gene expression of CDK10
(ENSG00000185324) in dendritic cells treated with Mycobacterium
tuberculosis:Years of education:Parkinson's disease:Aortic valve calcium |
|
16 |
89836323 |
1 |
FANCA |
C |
T |
exonic |
nonsynonymous SNV |
FANCA:NM_000135:exon26:c.G2426A:p.G809D,FANCA:NM_001286167:exon26:c.G2426A:p.G809D |
RS7195066 |
Gene expression of FANCA [probe
236976_at] in lymphoblastoid cell lines:Hair color (red):Spine bone mineral
density (BMD):Eye color:Hair color (black versus red):Hair color
(red):Tanning ability:Hair color:Freckles+burns vs. no freckles+tans:Burns
vs. tans:Hair color (red):Skin freckles:Hair color (red):Triglycerides:Gene
expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with PGE2:Gene
expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with
dexamethasone:Gene expression of TUBB3 in blood:Gene expression of
CDK10///C16orf76 in blood:Gene expression of DBNDD1 in blood:Gene expression
of SPIRE2 in blood |
|
16 |
89849480 |
1 |
FANCA |
C |
T |
exonic |
nonsynonymous SNV |
FANCA:NM_000135:exon16:c.G1501A:p.G501S,FANCA:NM_001286167:exon16:c.G1501A:p.G501S |
RS2239359 |
Freckles+burns vs. no
freckles+tans:Skin freckles:Alzheimer's disease:Fasting blood
glucose:Methylation levels at chr16:88511968-88512018 [hg18 coord, probe
cg14696348] in Temporal cortex:Methylation levels at chr16:88511968-88512018
[hg18 coord, probe cg14696348] in Cerebellum:Height:Gene expression of MC1R
[transcript NM_002386, probe A_23_P329271] in liver:Gene expression of TCF25
in blood:Gene expression of SPG7 in blood:Gene expression of C16orf7 in
blood:Gene expression of CDK10///C16orf76 in blood:Gene expression of TUBB3
in blood:Gene expression of RPL13 in blood:Gene expression of ENST00000360417
in blood:Gene expression of AC092143.9 in blood:Gene expression of DRD3 in
blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced
age-related macular degeneration:Tetrology of fallot:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
16 |
89986154 |
1 |
MC1R |
G |
A |
exonic |
nonsynonymous SNV |
MC1R:NM_002386:exon1:c.G488A:p.R163Q |
RS885479 |
Tanning ability:Hair color
(red):Rheumatoid arthritis:Information processing speed (Symbol search):Skin
M (melanin index by reflectance spectroscopy):Transmission distortion |
|
16 |
90037828 |
1 |
CENPBD1 |
G |
A |
exonic |
nonsynonymous SNV |
CENPBD1:NM_145039:exon1:c.C503T:p.T168I |
RS4785755 |
Hair color (red):Eye color:Tanning
ability:Hair color (red):Hair color (black versus red):Freckles+burns vs. no
freckles+tans:Hair color (red):Burns vs. tans:Skin freckles:Fasting blood
glucose:HOMA-B:Hair color (red):Gene expression of DEF8 [transcript NM_207514,
probe A_24_P49411] in liver:Gene expression of TUBB3 [transcript NM_006086,
probe A_23_P77493] in liver:Gene expression of TUBB3 in blood:Gene expression
of ENST00000360417 in blood:Gene expression of DBNDD1 in blood:Gene
expression of TCF25 in blood:Gene expression of DRD3 in blood:Advanced
age-related macular degeneration (geographic atrophy) |
|
16 |
90097748 |
1 |
GAS8 |
C |
T |
exonic |
synonymous SNV |
GAS8:NM_001286209:exon3:c.C57T:p.R19R,GAS8:NM_001481:exon3:c.C132T:p.R44R |
RS2302513 |
Triglycerides:Advanced age-related
macular degeneration (geographic atrophy) |
|
16 |
90109711 |
2 |
GAS8 |
A |
G |
exonic |
synonymous SNV |
GAS8:NM_001286208:exon10:c.A819G:p.T273T,GAS8:NM_001286205:exon11:c.A1146G:p.T382T,GAS8:NM_001286209:exon11:c.A1320G:p.T440T,GAS8:NM_001481:exon11:c.A1395G:p.T465T |
|
16 |
118893054 |
2 |
|
17 |
648157 |
2 |
GEMIN4 |
G |
A |
exonic |
synonymous SNV |
GEMIN4:NM_015721:exon2:c.C3126T:p.I1042I |
RS1045481 |
LDL cholesterol change with
statins:T-cell recognition in leukemia patients (minor histocompatibility
antigens):Gene expression of FAM57A in normal prepouch ileum |
|
17 |
648498 |
2 |
GEMIN4 |
C |
T |
exonic |
nonsynonymous SNV |
GEMIN4:NM_015721:exon2:c.G2785A:p.D929N |
RS2740349 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:Gene expression of
VPS53 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic
Creutzfeldt-Jakob disease |
|
17 |
649505 |
2 |
GEMIN4 |
T |
A |
exonic |
nonsynonymous SNV |
GEMIN4:NM_015721:exon2:c.A1778T:p.E593V |
|
17 |
649935 |
2 |
GEMIN4 |
G |
C |
exonic |
nonsynonymous SNV |
GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E |
RS2740348 |
Comorbid depressive syndrome and
alcohol dependence |
|
17 |
685752 |
2 |
MRM3 |
G |
A |
exonic |
nonsynonymous SNV |
MRM3:NM_018146:exon1:c.G134A:p.G45E |
RS2249542 |
Gene expression of FAM57A in normal
prepouch ileum:Aortic valve calcium:Gene expression of VPS53
(ENSG00000141252) in dendritic cells |
|
17 |
970413 |
2 |
ABR |
C |
T |
exonic |
synonymous SNV |
ABR:NM_001282149:exon5:c.G432A:p.E144E,ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_001322840:exon10:c.G948A:p.E316E,ABR:NM_001322841:exon10:c.G1863A:p.E621E,ABR:NM_021962:exon10:c.G1086A:p.E362E |
RS2262150 |
Waist hip ratio:Gene expression of
TIMM22 in blood:Infant head circumference |
|
17 |
1373612 |
2 |
MYO1C |
C |
T |
exonic |
nonsynonymous SNV |
MYO1C:NM_001080779:exon24:c.G2383A:p.V795I,MYO1C:NM_001080950:exon24:c.G2326A:p.V776I,MYO1C:NM_033375:exon24:c.G2278A:p.V760I |
|
17 |
1384066 |
2 |
MYO1C |
A |
G |
exonic |
synonymous SNV |
MYO1C:NM_001080779:exon6:c.T741C:p.G247G,MYO1C:NM_001080950:exon6:c.T684C:p.G228G,MYO1C:NM_033375:exon6:c.T636C:p.G212G |
|
17 |
1637302 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L |
RS3809872 |
Gene expression of RPA1
(ENSG00000132383) in dendritic cells treated with Mycobacterium
tuberculosis:Refractive error |
|
17 |
1639458 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T |
|
17 |
1673276 |
2 |
SERPINF1 |
C |
T |
exonic |
nonsynonymous SNV |
SERPINF1:NM_001329903:exon3:c.C215T:p.T72M,SERPINF1:NM_002615:exon3:c.C215T:p.T72M |
RS1136287 |
Gene expression of SMYD4 in
peripheral blood monocytes:Height:Gene expression of RPA1 in blood:Gene
expression of SMYD4 in blood:Gene expression of WDR81 in blood:Gene
expression of C17orf91 in blood:Coronary artery disease (CAD):Refractive
error:Gene expression of SMYD4 (probeID ILMN_2086238) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of SMYD4 (probeID
ILMN_2086238) in cerebellum in non-Alzheimer's disease samples:Gene
expression of SMYD4 (ENSG00000186532) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of SMYD4 (probeID ILMN_2086238) in
temporal cortex in Alzheimer's disease cases:Gene expression of SMYD4
(probeID ILMN_2086238) in cerebellum in Alzheimer's disease cases:Gene
expression of SMYD4 (probeID ILMN_2086238) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of SMYD4 (probeID ILMN_2086238) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
SMYD4 (probeID ILMN_2086238) in temporal cortex in Alzheimer's disease cases
and controls |
|
17 |
1680002 |
2 |
SERPINF1 |
T |
C |
exonic |
synonymous SNV |
SERPINF1:NM_001329905:exon3:c.T402C:p.Y134Y,SERPINF1:NM_001329904:exon6:c.T402C:p.Y134Y,SERPINF1:NM_001329903:exon7:c.T963C:p.Y321Y,SERPINF1:NM_002615:exon7:c.T963C:p.Y321Y |
RS6828 |
Cystatin C in serum:Gene expression
of RPA1 in peripheral blood monocytes:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Paternal transmission distortion |
|
17 |
1686410 |
2 |
SMYD4 |
T |
C |
exonic |
nonsynonymous SNV |
SMYD4:NM_052928:exon10:c.A2180G:p.Y727C |
RS9902398 |
Gene expression of SERPINF1 [probe
3705967] in peripheral blood mononuclear cells:Late onset Alzheimer's
disease:Gene expression of RPA1///ENST00000342279 in blood:Years of
education:College completion:Hypertension (early onset hypertension):Maternal
transmission distortion |
|
17 |
1733399 |
2 |
RPA1 |
A |
G |
exonic |
synonymous SNV |
RPA1:NM_002945:exon1:c.A12G:p.Q4Q |
RS5030749 |
Gene expression of RPA1
(ENSG00000132383) in dendritic cells |
|
17 |
3514028 |
2 |
SHPK |
G |
C |
exonic |
nonsynonymous SNV |
SHPK:NM_013276:exon7:c.C1263G:p.D421E |
|
17 |
3561396 |
2 |
CTNS |
C |
T |
exonic |
nonsynonymous SNV |
CTNS:NM_001031681:exon10:c.C779T:p.T260I,CTNS:NM_004937:exon10:c.C779T:p.T260I |
|
17 |
3568012 |
2 |
TAX1BP3 |
A |
G |
exonic |
synonymous SNV |
TAX1BP3:NM_001204698:exon2:c.T120C:p.D40D,TAX1BP3:NM_014604:exon2:c.T120C:p.D40D |
|
17 |
4088291 |
2 |
ANKFY1 |
C |
T |
exonic |
synonymous SNV |
ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T |
|
17 |
4455500 |
2 |
MYBBP1A |
T |
C |
exonic |
synonymous SNV |
MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A |
|
17 |
4575283 |
2 |
PELP1 |
A |
G |
exonic |
synonymous SNV |
PELP1:NM_014389:exon16:c.T3153C:p.P1051P |
|
17 |
4638484 |
2 |
CXCL16 |
T |
C |
exonic |
synonymous SNV |
CXCL16:NM_001100812:exon4:c.A678G:p.P226P,CXCL16:NM_022059:exon4:c.A678G:p.P226P |
RS1876444 |
HOMA-B:Gene expression of ZMYND15
[transcript NM_032265, probe A_23_P89570] in liver |
|
17 |
4638563 |
2 |
CXCL16 |
G |
A |
exonic |
nonsynonymous SNV |
CXCL16:NM_001100812:exon4:c.C599T:p.A200V,CXCL16:NM_022059:exon4:c.C599T:p.A200V |
RS2277680 |
Schizophrenia:Serum
creatinine:Neuroblastoma (brain cancer):Gene expression of CXCL16 [probe
ILMN_29805] in osteoblasts treated with dexamethasone:Gene expression of
CXCL16 [probe ILMN_29805] in untreated osteoblasts:Gene expression of CXCL16
[probe ILMN_29805] in osteoblasts treated with BMP2:Gene expression of
ZMYND15 in blood:Gene expression of MED11///CXCL16 in blood:Transmission
distortion |
|
17 |
4638737 |
2 |
CXCL16 |
A |
G |
exonic |
nonsynonymous SNV |
CXCL16:NM_001100812:exon4:c.T425C:p.I142T,CXCL16:NM_022059:exon4:c.T425C:p.I142T |
RS1050998 |
Schizophrenia:Serum
creatinine:Triglycerides:Neuroblastoma (brain cancer):Gene expression of
MED11///CXCL16 in blood:Gene expression of ZMYND15 in blood:Transmission
distortion |
|
17 |
4641755 |
2 |
CXCL16 |
C |
T |
exonic |
synonymous SNV |
CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G |
|
17 |
4693170 |
2 |
GLTPD2 |
T |
C |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.T455C:p.V152A |
|
17 |
4693342 |
2 |
GLTPD2 |
C |
A |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.C627A:p.D209E |
|
17 |
4693508 |
2 |
GLTPD2 |
G |
C |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.G793C:p.V265L |
|
17 |
4699552 |
2 |
PSMB6 |
G |
A |
exonic |
synonymous SNV |
PSMB6:NM_001270481:exon1:c.G63A:p.A21A,PSMB6:NM_002798:exon1:c.G63A:p.A21A |
RS3169950 |
Birth weight |
|
17 |
4856580 |
2 |
ENO3 |
T |
C |
exonic |
nonsynonymous SNV |
ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A |
RS238239 |
Fasting insulin:HDL cholesterol
change with statins:Lp-PLA2 activity:Gene expression of RNF167 in peripheral
blood monocytes:Autism:Body mass index (BMI):Gene expression of RNF167///PFN1
in blood:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of ENO3 (probeID
ILMN_1678904) in temporal cortex in Alzheimer's disease cases:Gene expression
of ENO3 (probeID ILMN_1678904) in cerebellum in non-Alzheimer's disease
samples:Gene expression of ENO3 (probeID ILMN_1678904) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of HS.202577 (probeID
ILMN_1878029) in breast tumors:Gene expression of ENO3 (probeID ILMN_2365383)
in cerebellum in Alzheimer's disease cases:Gene expression of ENO3 (probeID
ILMN_2365383) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of COL16A1 (probeID ILMN_1684554) in breast tumors:Adiponectin
levels:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of ENO3 (probeID
ILMN_2365383) in cerebellum in non-Alzheimer's disease samples:Gene
expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ZC3H12B (probeID ILMN_1814629)
in breast tumors:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum
in Alzheimer's disease cases |
|
17 |
4875566 |
2 |
CAMTA2 |
T |
C |
exonic |
synonymous SNV |
CAMTA2:NM_001171166:exon15:c.A2775G:p.P925P,CAMTA2:NM_001171168:exon15:c.A2766G:p.P922P,CAMTA2:NM_001171167:exon16:c.A2838G:p.P946P,CAMTA2:NM_015099:exon16:c.A2769G:p.P923P |
RS238230 |
Gene expression of DKFZP566H073 in
JPT lymphoblastoid cell lines:Gene expression of MINK1 [probe 214246_x_at] in
lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of MINK1 in
Frontal cortex:Autism:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Gene expression of RNF167///PFN1 in blood:Gene expression of C17orf87
in blood:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in
Alzheimer's disease cases:Adiponectin levels:Gene expression of ENO3 (probeID
ILMN_1678904) in cerebellum in Alzheimer's disease cases:Gene expression of
ENO3 (probeID ILMN_2365383) in cerebellum in non-Alzheimer's disease
samples:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ENO3 (probeID
ILMN_1678904) in cerebellum in non-Alzheimer's disease samples:Gene
expression of ENO3 (probeID ILMN_2365383) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of ENO3 (probeID ILMN_1678904) in
cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene
expression of ENO3 (probeID ILMN_1678904) in cerebellum in Progressive
Supranuclear Palsy cases |
|
17 |
4883818 |
2 |
CAMTA2 |
C |
G |
exonic |
nonsynonymous SNV |
CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P |
RS238234 |
Gene expression of DKFZP566H073 in
JPT lymphoblastoid cell lines:Total cholesterol:Gene expression of RNF167 in
Caudal pons:Gene expression of RNF167 in Cerebellum:Gene expression of RNF167
in Frontal cortex:Gene expression of RNF167 in Temporal cortex:Birth
weight:Gene expression change of PFN1 (ENSG00000108518) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
17 |
4926882 |
2 |
KIF1C |
A |
G |
exonic |
synonymous SNV |
KIF1C:NM_006612:exon23:c.A2748G:p.P916P |
|
17 |
6538355 |
2 |
KIAA0753 |
G |
A |
exonic |
synonymous SNV |
KIAA0753:NM_014804:exon2:c.C69T:p.S23S |
RS2301873 |
Parkinson's disease |
|
17 |
6942108 |
2 |
SLC16A13 |
C |
T |
exonic |
synonymous SNV |
SLC16A13:NM_201566:exon3:c.C981T:p.S327S |
RS11078663 |
Total cholesterol:Gene expression
of ASGR1 [transcript NM_001671, probe A_23_P118722] in liver:Number of iris
nevi |
|
17 |
6943266 |
2 |
SLC16A13 |
G |
A |
exonic |
synonymous SNV |
SLC16A13:NM_201566:exon4:c.G1266A:p.G422G |
RS4796576 |
Gene expression of SLC16A11 in CHB
lymphoblastoid cell lines:Total cholesterol:Asthma:Gene expression of
SLC16A13 [transcript NM_201566, probe A_23_P118741] in liver:Sporadic
Creutzfeldt-Jakob disease:Gene expression of SLC16A13 (ENSG00000174327) in
dendritic cells |
|
17 |
7318396 |
2 |
NLGN2 |
C |
T |
exonic |
synonymous SNV |
NLGN2:NM_020795:exon5:c.C966T:p.S322S |
RS2241233 |
Eye color:Alzheimer's disease:HDL
cholesterol:LDL cholesterol:Total cholesterol:Age at menarche:Gene expression
of [probe 6290132 centered at chr17:7084491] in blood:Acute lung injury
following major trauma:Circulating sex hormone-binding globulin levels in
non-postmenopausal hormone users:Serum testosterone (T) level:Serum
dihydrotestosterone (DHT) level:Circulating sex hormone-binding globulin
levels |
|
17 |
7400137 |
2 |
POLR2A |
T |
C |
exonic |
synonymous SNV |
POLR2A:NM_000937:exon5:c.T592C:p.L198L |
|
17 |
7404107 |
2 |
POLR2A |
T |
C |
exonic |
synonymous SNV |
POLR2A:NM_000937:exon11:c.T1821C:p.S607S |
|
17 |
7404991 |
2 |
POLR2A |
T |
C |
exonic |
synonymous SNV |
POLR2A:NM_000937:exon14:c.T2292C:p.N764N |
RS2228130 |
Ischemic stroke:Fasting insulin:HDL
cholesterol change with statins:HDL cholesterol:Waist hip ratio:Gene
expression of TNFSF13 [transcript NM_003808, probe A_23_P152620] in
liver:Serum testosterone (T) level:Serum dihydrotestosterone (DHT) level |
|
17 |
7416683 |
2 |
POLR2A |
A |
G |
exonic |
synonymous SNV |
POLR2A:NM_000937:exon29:c.A5100G:p.S1700S |
|
17 |
7417086 |
2 |
POLR2A |
G |
A |
exonic |
nonsynonymous SNV |
POLR2A:NM_000937:exon29:c.G5503A:p.A1835T |
|
17 |
7460559 |
2 |
TNFSF12 |
T |
G |
exonic |
synonymous SNV |
TNFSF12:NM_003809:exon7:c.T642G:p.G214G |
|
17 |
7477938 |
2 |
EIF4A1 |
G |
C |
exonic |
synonymous SNV |
EIF4A1:NM_001204510:exon3:c.G147C:p.A49A,EIF4A1:NM_001416:exon3:c.G147C:p.A49A |
|
17 |
8424270 |
2 |
MYH10 |
G |
A |
exonic |
synonymous SNV |
MYH10:NM_005964:exon17:c.C2106T:p.N702N,MYH10:NM_001256095:exon18:c.C2133T:p.N711N,MYH10:NM_001256012:exon19:c.C2199T:p.N733N |
|
17 |
9395231 |
2 |
STX8 |
G |
A |
exonic |
synonymous SNV |
STX8:NM_004853:exon6:c.C456T:p.D152D |
RS9893664 |
HOMA-B:Advanced age-related macular
degeneration:Mitral annular calcium |
|
17 |
9471711 |
2 |
STX8 |
T |
G |
exonic |
synonymous SNV |
STX8:NM_004853:exon2:c.A94C:p.R32R |
RS1133295 |
Urinary albumin-to-creatinine
ratio:Asparagine:Histidine |
|
17 |
10536018 |
2 |
MYH3 |
G |
A |
exonic |
synonymous SNV |
MYH3:NM_002470:exon34:c.C4731T:p.I1577I |
RS2285479 |
Fasting insulin:HOMA-B:HOMA-IR:Birth
weight |
|
17 |
10614442 |
2 |
ADPRM |
A |
G |
exonic |
nonsynonymous SNV |
ADPRM:NM_020233:exon4:c.A1010G:p.E337G |
RS406446 |
Gene expression of TMEM220 [probe
229693_at] in lymphoblastoid cell lines:Differential exon level expression of
C17orf48 [probe 3710287] in brain cortex:Differential exon level expression
of C17orf48 [probe 3710287] in peripheral blood mononuclear cells:Gene
expression of C17orf48 [probe 3710277] in brain cortex:Differential exon
level expression of C17orf48 [probe 3710284] in peripheral blood mononuclear
cells:Gene expression of C17orf48 [probe 3710277] in peripheral blood
mononuclear cells:2 hour glucose:Methylation levels at
chr17:10542726-10542776 [hg18 coord, probe cg12478185] in Temporal
cortex:Gene expression of SCO1 in blood:Gene expression of TMEM220 in
blood:Gene expression of AC002347.1 in blood:Gene expression of MYH3 in
blood:Gene expression of AC002347.1///TMEM220 in blood:Gene expression of
C17orf48 [probeset 223401_at] in sputum:Gene expression of TMEM220 [probeset
229693_at] in sputum:Gene expression of TMEM220 in normal prepouch ileum:Gene
expression of C17orf48 in normal prepouch ileum:Gene expression of SCO1 in
normal prepouch ileum:Tetrology of fallot |
|
17 |
12898361 |
1 |
ELAC2 |
G |
A |
exonic |
synonymous SNV |
ELAC2:NM_001165962:exon19:c.C1707T:p.C569C,ELAC2:NM_018127:exon20:c.C1827T:p.C609C,ELAC2:NM_173717:exon20:c.C1824T:p.C608C |
|
17 |
16068383 |
1 |
NCOR1 |
G |
A |
exonic |
synonymous SNV |
NCOR1:NM_001190438:exon2:c.C201T:p.L67L,NCOR1:NM_001190440:exon4:c.C528T:p.L176L,NCOR1:NM_006311:exon5:c.C528T:p.L176L |
|
17 |
16859628 |
2 |
|
17 |
18137141 |
2 |
LLGL1 |
A |
G |
exonic |
nonsynonymous SNV |
LLGL1:NM_004140:exon5:c.A442G:p.S148G |
RS2290505 |
Type 2 diabetes:Triglycerides
change with statins:HDL cholesterol change with statins:HDL cholesterol:Total
cholesterol:LDL cholesterol:Gene expression of LRRC48 in blood:Gene
expression of TOP3A in blood:Gene expression of LLGL1///FLII in blood |
|
17 |
18566487 |
2 |
ZNF286B |
G |
A |
exonic |
nonsynonymous SNV |
ZNF286B:NM_001145045:exon5:c.C332T:p.P111L |
|
17 |
18694277 |
2 |
TVP23B |
G |
A |
exonic |
nonsynonymous SNV |
TVP23B:NM_001316924:exon3:c.G164A:p.G55E,TVP23B:NM_016078:exon3:c.G164A:p.G55E |
|
17 |
25628820 |
2 |
WSB1 |
T |
C |
exonic |
nonsynonymous SNV |
WSB1:NM_001348350:exon2:c.T47C:p.L16S,WSB1:NM_015626:exon2:c.T47C:p.L16S |
RS6561 |
Gene expression of probe 227501_at
in lymphoblastoid cell lines:Spine bone mineral density (BMD):LDL
cholesterol:HDL cholesterol:Total cholesterol:LDL
cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression of WSB1 in blood:Gene expression of WSB1 [probeset 201294_s_at] in
sputum:Infant head circumference |
|
17 |
26676135 |
2 |
POLDIP2 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS13469 |
HDL cholesterol:Total
cholesterol:Serum creatinine:Body mass index (BMI):Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Gene
expression of TMEM199 in normal prepouch ileum:Years of education:Adiponectin
levels:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Advanced age-related macular degeneration |
|
17 |
26684394 |
2 |
POLDIP2 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
17 |
26684449 |
2 |
POLDIP2 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
17 |
26694861 |
2 |
VTN |
G |
A |
exonic |
nonsynonymous SNV |
VTN:NM_000638:exon7:c.C1199T:p.T400M |
RS704 |
HDL cholesterol:Total
cholesterol:Cystatin C in serum:Body mass index (BMI):Years of
education:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
17 |
28712099 |
1 |
CPD |
G |
A |
exonic |
nonsynonymous SNV |
CPD:NM_001199775:exon2:c.G98A:p.S33N,CPD:NM_001304:exon2:c.G839A:p.S280N |
|
17 |
28712100 |
1 |
CPD |
C |
G |
exonic |
nonsynonymous SNV |
CPD:NM_001199775:exon2:c.C99G:p.S33R,CPD:NM_001304:exon2:c.C840G:p.S280R |
|
17 |
30302581 |
1 |
SUZ12 |
C |
T |
exonic |
synonymous SNV |
SUZ12:NM_001321207:exon6:c.C603T:p.P201P,SUZ12:NM_015355:exon7:c.C672T:p.P224P |
|
17 |
30302638 |
1 |
SUZ12 |
T |
C |
exonic |
synonymous SNV |
SUZ12:NM_001321207:exon6:c.T660C:p.H220H,SUZ12:NM_015355:exon7:c.T729C:p.H243H |
|
17 |
30302681 |
1 |
SUZ12 |
G |
A |
exonic |
nonsynonymous SNV |
SUZ12:NM_001321207:exon6:c.G703A:p.G235R,SUZ12:NM_015355:exon7:c.G772A:p.G258R |
|
17 |
30533970 |
2 |
RHOT1 |
A |
G |
exonic |
synonymous SNV |
RHOT1:NM_001033566:exon17:c.A1458G:p.E486E,RHOT1:NM_001033568:exon17:c.A1458G:p.E486E,RHOT1:NM_001288754:exon17:c.A1458G:p.E486E,RHOT1:NM_001288755:exon17:c.A1395G:p.E465E,RHOT1:NM_018307:exon17:c.A1458G:p.E486E,RHOT1:NM_001033567:exon18:c.A1077G:p.E359E,RHOT1:NM_001288758:exon18:c.A1077G:p.E359E |
RS16967164 |
HOMA-IR:Total cholesterol:LDL
cholesterol change with statins:Methylation levels at chr19:9799988-9800038
[hg18 coord, probe cg17704839] in Frontal cortex:Methylation levels at
chr19:9799988-9800038 [hg18 coord, probe cg17704839] in Caudal pons:Methylation
levels at chr19:9799988-9800038 [hg18 coord, probe cg17704839] in Temporal
cortex:Total cholesterol:LDL cholesterol:Height:Gene expression change of
RHOT1 (ENSG00000126858) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
17 |
33288882 |
2 |
ZNF830 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF830:NM_052857:exon1:c.T297G:p.H99Q |
RS931196 |
Fasting blood glucose:Rheumatoid
arthritis:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
17 |
33464864 |
2 |
NLE1 |
C |
T |
exonic |
nonsynonymous SNV |
NLE1:NM_018096:exon5:c.G506A:p.R169K |
RS7215209 |
HOMA-B:Comorbid depressive syndrome
and alcohol dependence:Refractive error:Advanced age-related macular
degeneration (geographic atrophy) |
|
17 |
34328461 |
2 |
CCL15 |
A |
G |
exonic |
nonsynonymous SNV |
CCL15:NM_032965:exon1:c.T71C:p.I24T |
RS854625 |
Fasting insulin:Urinary
albumin-to-creatinine ratio |
|
17 |
35478362 |
2 |
ACACA |
T |
C |
exonic |
synonymous SNV |
ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T |
|
17 |
36861983 |
2 |
MLLT6 |
T |
C |
exonic |
nonsynonymous SNV |
MLLT6:NM_005937:exon1:c.T98C:p.V33A |
|
17 |
37070658 |
2 |
LASP1 |
A |
G |
exonic |
synonymous SNV |
LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S |
RS525989 |
LDL cholesterol:Total
cholesterol:Serum creatinine:Height:Gene expression of LASP1 [transcript
NM_006148, probe A_23_P89187] in liver:Adiponectin levels |
|
17 |
37814080 |
2 |
STARD3 |
G |
A |
exonic |
nonsynonymous SNV |
STARD3:NM_001165937:exon4:c.G350A:p.R117Q,STARD3:NM_001165938:exon4:c.G350A:p.R117Q,STARD3:NM_006804:exon4:c.G350A:p.R117Q |
RS1877031 |
Irritible bowel syndrome:HDL
cholesterol:Asthma:Serum creatinine:Rheumatoid arthritis:Total
cholesterol:HDL cholesterol:Asthma, childhood, later and unknown onset, and
severe asthma:Asthma, childhood, later and unknown onset, and severe and
industrial asthma:Severe asthma:Asthma, childhood onset:Asthma, childhood and
later onset:Height:Neuroblastoma (brain cancer):Gene expression of STARD3
[probe ILMN_10258] in osteoblasts treated with pge-2:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Pediatric asthma:Gene expression
of CRKRS in blood:Gene expression of PNMT///PERLD1 in blood:Gene expression
of PPP1R1B///STARD3 in blood:Asthma:Gene expression of PERLD1 in
liver:Myasthenia gravis:Gene expression of PGAP3 in normal prepouch
ileum:Gene expression of GSDMB (probeID ILMN_1666206) in whole blood:Years of
education:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of GSDMB in normal prepouch ileum |
|
17 |
37884037 |
2 |
ERBB2 |
C |
G |
exonic |
nonsynonymous SNV |
ERBB2:NM_004448:exon27:c.C3508G:p.P1170A,ERBB2:NM_001005862:exon30:c.C3418G:p.P1140A,ERBB2:NM_001289936:exon31:c.C3463G:p.P1155A |
RS1058808 |
HDL cholesterol:Serum
creatinine:Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Waist hip
ratio:Urinary albumin-to-creatinine ratio:Asthma:Systolic blood pressure
(SBP):Asthma:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration (geographic atrophy) |
|
17 |
37898543 |
2 |
GRB7 |
T |
C |
exonic |
nonsynonymous SNV |
GRB7:NM_001242442:exon2:c.T58C:p.C20R |
|
17 |
38137364 |
2 |
PSMD3 |
G |
A |
exonic |
synonymous SNV |
PSMD3:NM_002809:exon1:c.G141A:p.S47S |
|
17 |
38179492 |
2 |
MED24 |
A |
G |
exonic |
synonymous SNV |
MED24:NM_001079518:exon19:c.T2103C:p.I701I,MED24:NM_001267797:exon19:c.T2103C:p.I701I,MED24:NM_014815:exon20:c.T2142C:p.I714I,MED24:NM_001330211:exon21:c.T2199C:p.I733I |
RS2302777 |
HDL cholesterol:Panic
disorder:Major depressive disorder:Gene expression of PSMD3 in peripheral
blood monocytes:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid
depressive syndrome and alcohol dependence:Bipolar disorder:Multiple
myeloma:Gene expression of MED24 (probeID ILMN_2388272) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MED24 (probeID
ILMN_2388272) in temporal cortex in Alzheimer's disease cases and
controls:Paternal transmission distortion |
|
17 |
38990834 |
2 |
TMEM99 |
G |
C |
exonic |
synonymous SNV |
TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V |
RS2240078 |
HOMA-B:Microalbuminuria |
|
17 |
38991032 |
2 |
TMEM99 |
T |
A |
exonic |
synonymous SNV |
TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G |
RS6694 |
LDL cholesterol change with
statins:Total cholesterol change with statins |
|
17 |
39681475 |
2 |
KRT19 |
A |
G |
exonic |
synonymous SNV |
KRT19:NM_002276:exon2:c.T471C:p.N157N |
|
17 |
39684321 |
2 |
KRT19 |
G |
C |
exonic |
nonsynonymous SNV |
KRT19:NM_002276:exon1:c.C179G:p.A60G |
|
17 |
39684410 |
2 |
KRT19 |
G |
A |
exonic |
synonymous SNV |
KRT19:NM_002276:exon1:c.C90T:p.A30A |
|
17 |
39983808 |
2 |
NT5C3B |
G |
C |
exonic |
nonsynonymous SNV |
NT5C3B:NM_052935:exon8:c.C638G:p.S213C |
RS1046404 |
Gene expression of MGC20781 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe
225044_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of NT5C3L in
normal prepouch ileum:Gene expression of NT5C3L (probeID ILMN_1750511) in
whole blood:Gene expression of SC65 (ENSG00000141696) in dendritic cells
treated with Mycobacterium tuberculosis:Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular
degeneration:Gene expression of ACLY (ENSG00000131473) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of NT5C3L
(ENSG00000141698) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of KLHL11 (ENSG00000178502) in dendritic cells
treated with Mycobacterium tuberculosis |
|
17 |
39983820 |
2 |
NT5C3B |
G |
A |
exonic |
nonsynonymous SNV |
NT5C3B:NM_052935:exon8:c.C626T:p.A209V |
RS1046403 |
Gene expression of MGC20781 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe
225044_at] in lymphoblastoid cell lines:Gene expression of NT5C3L in
lymphoblastoid cell lines:Eye color:Gene expression of NT5C3L in blood cells
in Celiac disease:Schizophrenia:Differential exon level expression of NT5C3L
[probe 3757413] in peripheral blood mononuclear cells:Differential exon level
expression of NT5C3L [probe 3757403] in peripheral blood mononuclear
cells:Differential exon level expression of NT5C3L [probe 3757407] in
peripheral blood mononuclear cells:Differential exon level expression of
NT5C3L [probe 3757404] in peripheral blood mononuclear cells:Differential
exon level expression of NT5C3L [probe 3757414] in peripheral blood mononuclear
cells:Gene expression of JUP [probe 3757329] in peripheral blood mononuclear
cells:Differential exon level expression of NT5C3L [probe 3757405] in
peripheral blood mononuclear cells:Differential exon level expression of
NT5C3L [probe 3757409] in peripheral blood mononuclear cells:Differential
exon level expression of NT5C3L [probe 3757418] in peripheral blood
mononuclear cells:Gene expression of NT5C3L [probe 3757399] in peripheral
blood mononuclear cells:Differential exon level expression of NT5C3L [probe
3757408] in peripheral blood mononuclear cells:Gene expression of NT5C3L
[transcript ID 3757399] in peripheral blood mononuclear cells:Gene expression
of NT5C3L [probe ILMN_24101] in osteoblasts:NT5C3L gene expression in
lymphoblastoid cell lines:Lp-PLA2 mass:Gene expression of NT5C3L in CD4+
lymphocytes:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts
treated with dexamethasone:Gene expression of NT5C3L [probe ILMN_24101] in
osteoblasts treated with PGE2:Gene expression of NT5C3L [probe ILMN_24101] in
untreated osteoblasts:Gene expression of NT5C3L [probe ILMN_24101] in
osteoblasts treated with BMP2:Gene expression of JUP in blood:Gene expression
of TTC25 in blood:Gene expression of NT5C3L in blood:Gene expression of
NT5C3L [probeset 225044_at] in sputum:Gene expression of NT5C3L in
liver:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy):Allele-specific Expression Patterns in
human glioblastoma cell line U87MG |
|
17 |
39983849 |
2 |
NT5C3B |
G |
C |
exonic |
synonymous SNV |
NT5C3B:NM_052935:exon8:c.C597G:p.L199L |
RS1128966 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
17 |
39987130 |
2 |
NT5C3B |
T |
C |
exonic |
synonymous SNV |
NT5C3B:NM_052935:exon6:c.A327G:p.A109A |
RS4796712 |
Gene expression of MGC20781 in YRI
lymphoblastoid cell lines:Gene expression of JUP [probe 3757329] in
peripheral blood mononuclear cells:Differential exon level expression of JUP
[probe 3757355] in peripheral blood mononuclear cells:Differential exon level
expression of JUP [probe 3757338] in peripheral blood mononuclear cells:Gene
expression of NT5C3L [probe 3757399] in peripheral blood mononuclear
cells:Differential exon level expression of JUP [probe 3757339] in peripheral
blood mononuclear cells:Differential exon level expression of JUP [probe
3757337] in peripheral blood mononuclear cells:Differential exon level
expression of NT5C3L [probe 3757405] in peripheral blood mononuclear
cells:Differential exon level expression of JUP [probe 3757361] in peripheral
blood mononuclear cells:Differential exon level expression of JUP [probe
3757353] in peripheral blood mononuclear cells:Differential exon level
expression of JUP [probe 3757356] in peripheral blood mononuclear
cells:Differential exon level expression of JUP [probe 3757351] in peripheral
blood mononuclear cells:Differential exon level expression of JUP [probe
3757352] in peripheral blood mononuclear cells:Differential exon level
expression of JUP [probe 3757359] in peripheral blood mononuclear
cells:Differential exon level expression of JUP [probe 3757336] in peripheral
blood mononuclear cells:Differential exon level expression of JUP [probe
3757357] in peripheral blood mononuclear cells:Differential exon level
expression of JUP [probe 3757349] in peripheral blood mononuclear
cells:Differential exon level expression of JUP [probe 3757341] in peripheral
blood mononuclear cells:Differential exon level expression of JUP [probe
3757343] in peripheral blood mononuclear cells:Rheumatoid arthritis:NT5C3L
gene expression in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Fasting
blood glucose:Gene expression of NT5C3L in CD4+ lymphocytes:Gene expression
of JUP in CD4+ lymphocytes:Gene expression of NT5C3L in blood:Gene expression
of JUP in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of NT5C3L in normal prepouch ileum |
|
17 |
40048613 |
2 |
ACLY |
A |
G |
exonic |
synonymous SNV |
ACLY:NM_001303275:exon15:c.T1821C:p.H607H,ACLY:NM_198830:exon15:c.T1659C:p.H553H,ACLY:NM_001096:exon16:c.T1689C:p.H563H,ACLY:NM_001303274:exon16:c.T1851C:p.H617H |
RS8065502 |
Fasting insulin:HOMA-IR:Autism with
high IQ:Advanced age-related macular degeneration:Gene expression of NT5C3L
in normal prepouch ileum:Gene expression of ACLY in normal prepouch
ileum:Advanced age-related macular degeneration (geographic atrophy) |
|
17 |
40125864 |
2 |
CNP |
G |
A |
exonic |
synonymous SNV |
CNP:NM_001330216:exon4:c.G1128A:p.G376G,CNP:NM_033133:exon4:c.G1188A:p.G396G |
RS2070106 |
Stabilized warfarin dose:LDL
cholesterol:Gene expression of KAT2A [transcript NM_021078, probe
A_23_P66608] in liver:Gene expression of JUP in blood:Gene expression of
NT5C3L in blood:Gene expression of CNP///DNAJC7 in blood:Gene expression of
AC130686.10 in blood:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
17 |
40689455 |
2 |
NAGLU |
T |
C |
exonic |
synonymous SNV |
NAGLU:NM_000263:exon2:c.T423C:p.S141S |
RS659497 |
Diastolic blood pressure (DBP) |
|
17 |
40696233 |
2 |
NAGLU |
C |
G |
exonic |
nonsynonymous SNV |
NAGLU:NM_000263:exon6:c.C2209G:p.R737G |
RS86312 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale:HOMA-IR:Fasting insulin:Chronic kidney
disease:Triglycerides:HDL cholesterol:Acute lung injury following major
trauma:Birth weight |
|
17 |
40822308 |
2 |
PLEKHH3 |
C |
A |
exonic |
nonsynonymous SNV |
PLEKHH3:NM_024927:exon11:c.G1641T:p.Q547H |
|
17 |
41116234 |
2 |
AARSD1;PTGES3L-AARSD1 |
G |
A |
exonic |
synonymous SNV |
AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S |
|
17 |
41133071 |
2 |
RUNDC1 |
T |
C |
exonic |
nonsynonymous SNV |
RUNDC1:NM_001321381:exon1:c.T478C:p.W160R,RUNDC1:NM_173079:exon1:c.T478C:p.W160R |
|
17 |
41165878 |
2 |
IFI35 |
C |
T |
exonic |
synonymous SNV |
IFI35:NM_001330230:exon6:c.C648T:p.N216N,IFI35:NM_005533:exon6:c.C654T:p.N218N |
|
17 |
41174025 |
2 |
VAT1 |
A |
C |
exonic |
synonymous SNV |
VAT1:NM_006373:exon1:c.T315G:p.P105P |
RS2070835 |
PROP taste detection threshold |
|
17 |
41223094 |
2 |
BRCA1 |
T |
C |
exonic |
nonsynonymous SNV |
BRCA1:NM_007297:exon14:c.A4696G:p.S1566G,BRCA1:NM_007298:exon14:c.A1525G:p.S509G,BRCA1:NM_007294:exon15:c.A4837G:p.S1613G,BRCA1:NM_007299:exon15:c.A1525G:p.S509G,BRCA1:NM_007300:exon16:c.A4900G:p.S1634G |
RS1799966 |
Gene expression of MGC20235 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT
lymphoblastoid cell lines:Gene expression of probe 1556545_at in
lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral
density (BMD):Stabilized warfarin dose:Differential exon level expression of
NBR2 [probe 3722404] in brain cortex:Differential exon level expression of
NBR2 [probe 3722401] in brain cortex:Differential exon level expression of
NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384]
in peripheral blood mononuclear cells:Gene expression of NBR2 [probe 3722384]
in brain cortex:Chronic kidney disease:Serum
creatinine:Triglycerides:Depression scale of the Revised NEO Personality
Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Neuroblastoma (brain
cancer):Gene expression of BRCA1 in blood:Gene expression of IFI35///VAT1 in
blood:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in
Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_2311089) in
cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Gene
expression of BRCA1 (probeID ILMN_1738027) in cerebellum in non-Alzheimer's
disease samples:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum
in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027)
in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in
Progressive Supranuclear Palsy cases:DNA repair capacity in cultured
peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung
cancer cases and controls:Gene expression of BRCA1 (probeID ILMN_2311089) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases
and controls |
|
17 |
41231404 |
2 |
BRCA1 |
T |
C |
exonic |
nonsynonymous SNV |
BRCA1:NM_007300:exon13:c.A4370G:p.H1457R |
|
17 |
41231405 |
2 |
BRCA1 |
G |
A |
exonic |
nonsynonymous SNV |
BRCA1:NM_007300:exon13:c.C4369T:p.H1457Y |
|
17 |
41234470 |
2 |
BRCA1 |
A |
G |
exonic |
synonymous SNV |
BRCA1:NM_007297:exon11:c.T4167C:p.S1389S,BRCA1:NM_007298:exon11:c.T999C:p.S333S,BRCA1:NM_007294:exon12:c.T4308C:p.S1436S,BRCA1:NM_007299:exon12:c.T999C:p.S333S,BRCA1:NM_007300:exon12:c.T4308C:p.S1436S |
RS1060915 |
Gene expression of MGC20235 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT
lymphoblastoid cell lines:Gene expression of probe 1556545_at in
lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral
density (BMD):Stabilized warfarin dose:Differential exon level expression of
NBR2 [probe 3722401] in brain cortex:Differential exon level expression of
NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384]
in peripheral blood mononuclear cells:Differential exon level expression of
NBR2 [probe 3722404] in brain cortex:Gene expression of NBR2 [probe 3722384]
in brain cortex:Chronic kidney disease:Serum
creatinine:Triglycerides:Depression scale of the Revised NEO Personality
Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Neuroblastoma (brain
cancer):Gene expression of IFI35///VAT1 in blood:Gene expression of BRCA1 in
blood:Gene expression of NBR2 [probeset 1553992_s_at] in sputum:PROP taste
detection threshold:Gene expression of NBR2 in normal prepouch ileum:Gene
expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in
cerebellum in Alzheimer's disease cases:Gene expression of BRCA1 (probeID
ILMN_1738027) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID
ILMN_1738027) in temporal cortex in Progressive Supranuclear Palsy
cases:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_1738027) in
temporal cortex in Alzheimer's disease cases:Gene expression of BRCA1
(probeID ILMN_1738027) in cerebellum in non-Alzheimer's disease samples:Gene
expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in
cerebellum in Progressive Supranuclear Palsy cases:Refractive error |
|
17 |
41244435 |
2 |
BRCA1 |
T |
C |
exonic |
nonsynonymous SNV |
BRCA1:NM_007297:exon9:c.A2972G:p.E991G,BRCA1:NM_007294:exon10:c.A3113G:p.E1038G,BRCA1:NM_007300:exon10:c.A3113G:p.E1038G |
RS16941 |
Gene expression of MGC20235 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT
lymphoblastoid cell lines:Gene expression of probe 1556545_at in
lymphoblastoid cell lines:Barnes Akathisia Rating Scale:Chronic kidney
disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO
Personality Inventory:PROP taste detection threshold:Gene expression of BRCA1
(probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex
in Alzheimer's disease cases and controls:Adiponectin levels:Refractive
error:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of NBR2 in normal prepouch
ileum:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in
Alzheimer's disease cases and controls |
|
17 |
41244936 |
2 |
BRCA1 |
G |
A |
exonic |
nonsynonymous SNV |
BRCA1:NM_007297:exon9:c.C2471T:p.P824L,BRCA1:NM_007294:exon10:c.C2612T:p.P871L,BRCA1:NM_007300:exon10:c.C2612T:p.P871L |
RS799917 |
Gene expression of NBR2 [probe
1553992_s_at] in lymphoblastoid cell lines:Gene expression of probe
1556545_at in lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip
bone mineral density (BMD):Stabilized warfarin dose:Differential exon level
expression of NBR2 [probe 3722401] in brain cortex:Differential exon level
expression of NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2
[probe 3722384] in peripheral blood mononuclear cells:Gene expression of NBR2
[probe 3722384] in brain cortex:Differential exon level expression of NBR2
[probe 3722404] in brain cortex:Chronic kidney disease:Serum
creatinine:Depression scale of the Revised NEO Personality Inventory:Gene
expression of BRCA1 in CD4+ lymphocytes:Gene expression of BRCA1 in blood:Gene
expression of IFI35///VAT1 in blood:Gene expression of NBR2 [probeset
1553992_s_at] in sputum:PROP taste detection threshold:Gene expression of
NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal
cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene
expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's
disease cases and controls |
|
17 |
41245237 |
2 |
BRCA1 |
A |
G |
exonic |
synonymous SNV |
BRCA1:NM_007297:exon9:c.T2170C:p.L724L,BRCA1:NM_007294:exon10:c.T2311C:p.L771L,BRCA1:NM_007300:exon10:c.T2311C:p.L771L |
RS16940 |
Gene expression of MGC20235 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 1556545_at
in lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone
mineral density (BMD):Stabilized warfarin dose:Differential exon level expression
of NBR2 [probe 3722401] in brain cortex:Differential exon level expression of
NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384]
in peripheral blood mononuclear cells:Differential exon level expression of
NBR2 [probe 3722404] in brain cortex:Gene expression of NBR2 [probe 3722384]
in brain cortex:Chronic kidney disease:Serum
creatinine:Triglycerides:Depression scale of the Revised NEO Personality
Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Body mass index (BMI):Neuroblastoma
(brain cancer):Gene expression of IFI35///VAT1 in blood:Gene expression of
BRCA1 in blood:Gene expression of NBR2 [probeset 1553992_s_at] in sputum:PROP
taste detection threshold:Gene expression of BRCA1 (probeID ILMN_1738027) in
cerebellum in non-Alzheimer's disease samples:Gene expression of BRCA1
(probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases:Gene
expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of BRCA1
(probeID ILMN_1738027) in temporal cortex in Progressive Supranuclear Palsy
cases:Refractive error:Gene expression of BRCA1 (probeID ILMN_2311089) in
cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Gene
expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of NBR2 in normal prepouch
ileum:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in
Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in
temporal cortex in Alzheimer's disease cases and controls |
|
17 |
41245466 |
2 |
BRCA1 |
G |
A |
exonic |
synonymous SNV |
BRCA1:NM_007297:exon9:c.C1941T:p.S647S,BRCA1:NM_007294:exon10:c.C2082T:p.S694S,BRCA1:NM_007300:exon10:c.C2082T:p.S694S |
RS1799949 |
Gene expression of MGC20235 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT
lymphoblastoid cell lines:Gene expression of probe 1556545_at in
lymphoblastoid cell lines:Stabilized warfarin dose:Gene expression of NBR2
[probe 3722384] in brain cortex:Differential exon level expression of NBR2
[probe 3722404] in brain cortex:Chronic kidney disease:Serum
creatinine:Triglycerides:Depression scale of the Revised NEO Personality
Inventory:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID
ILMN_1738027) in temporal cortex in Alzheimer's disease cases and
controls:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_2311089)
in temporal cortex in Alzheimer's disease cases and controls:DNA repair
capacity in cultured peripheral lymphocytes (BPDE-damage host-cell
reactivation testing) in lung cancer cases and controls:Gene expression of
NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089)
in cerebellum in Alzheimer's disease cases and controls |
|
17 |
41361960 |
2 |
NBR1 |
A |
G |
exonic |
nonsynonymous SNV |
NBR1:NM_005899:exon21:c.A2768G:p.H923R,NBR1:NM_031862:exon21:c.A2768G:p.H923R |
|
17 |
42164885 |
2 |
HDAC5 |
G |
C |
exonic |
nonsynonymous SNV |
HDAC5:NM_001015053:exon13:c.C1782G:p.D594E,HDAC5:NM_005474:exon13:c.C1779G:p.D593E |
RS228757 |
Autism with verbal
ability:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene
expression of TMUB2 (probeID ILMN_2311779) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of TMUB2 (probeID ILMN_2311779) in
cerebellum in non-Alzheimer's disease samples:Gene expression of C17orf65 in
normal prepouch ileum:Gene expression of TMUB2 (probeID ILMN_2311779) in
cerebellum in Alzheimer's disease cases:Gene expression of TMUB2 (probeID
ILMN_2311779) in temporal cortex in non-Alzheimer's disease
samples:Parkinson's disease:Coronary artery disease (CAD):Gene expression of
TMUB2 (probeID ILMN_2311779) in temporal cortex in Alzheimer's disease
cases:Gene expression of TMUB2 (probeID ILMN_2311779) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ASB16 (probeID
ILMN_1810881) in cerebellum in Alzheimer's disease cases and controls |
|
17 |
43175906 |
2 |
NMT1 |
C |
T |
exonic |
synonymous SNV |
NMT1:NM_021079:exon7:c.C870T:p.P290P |
RS2239922 |
Bipolar disorder, gender
differentiated:Gene expression of probe 214188_at in lymphoblastoid cell
lines:2 hour glucose:Gene expression of LRRC37A4 in peripheral blood
monocytes:Triglycerides:HDL cholesterol:Waist hip ratio:Birth weight |
|
17 |
43216472 |
2 |
ACBD4 |
A |
G |
exonic |
nonsynonymous SNV |
ACBD4:NM_024722:exon8:c.A734G:p.Q245R,ACBD4:NM_001135705:exon9:c.A734G:p.Q245R,ACBD4:NM_001135706:exon9:c.A772G:p.R258G,ACBD4:NM_001135707:exon9:c.A724G:p.R242G,ACBD4:NM_001321352:exon11:c.A772G:p.R258G,ACBD4:NM_001321353:exon11:c.A772G:p.R258G |
RS16939879 |
2 hour glucose:LDL cholesterol
change with statins:Triglycerides:Waist hip ratio:Birth weight:Coronary
artery disease (CAD) |
|
17 |
43545753 |
1 |
PLEKHM1 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon5:c.G1130A:p.R377H |
|
17 |
43555372 |
1 |
PLEKHM1 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon3:c.G190A:p.A64T |
|
17 |
43555449 |
1 |
PLEKHM1 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon3:c.C113T:p.T38M |
|
17 |
44144993 |
2 |
KANSL1 |
C |
G |
exonic |
nonsynonymous SNV |
KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P |
|
17 |
44626660 |
2 |
LRRC37A2 |
C |
G |
exonic |
nonsynonymous SNV |
LRRC37A2:NM_001006607:exon9:c.C4155G:p.N1385K |
|
17 |
45885687 |
2 |
OSBPL7 |
A |
G |
exonic |
synonymous SNV |
OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y |
RS9907142 |
LDL cholesterol:Advanced age-related
macular degeneration (geographic atrophy) |
|
17 |
45890707 |
2 |
OSBPL7 |
C |
T |
exonic |
synonymous SNV |
OSBPL7:NM_145798:exon16:c.G1662A:p.K554K |
RS2301690 |
Triglycerides:Serum
creatinine:Waist hip ratio:Gene expression of MRPL10 in blood:Diastolic blood
pressure (DBP):Adiponectin levels |
|
17 |
45915788 |
2 |
SCRN2 |
T |
C |
exonic |
nonsynonymous SNV |
SCRN2:NM_001145023:exon7:c.A967G:p.M323V,SCRN2:NM_138355:exon7:c.A967G:p.M323V |
RS7350974 |
Systolic blood pressure
(SBP):Advanced age-related macular degeneration (geographic atrophy) |
|
17 |
47000251 |
2 |
UBE2Z |
C |
T |
exonic |
synonymous SNV |
UBE2Z:NM_023079:exon6:c.C846T:p.Y282Y |
RS1058018 |
Fat mass:HDL cholesterol:Gene
expression of ATP5G1 in Frontal cortex:HDL cholesterol:Height:Waist hip
ratio:Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of
education:College completion:Gene expression of ATP5G1 (probeID ILMN_1712430)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of UBE2Z (probeID ILMN_1692168) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal
cortex in Alzheimer's disease cases and controls:Infant head
circumference:Gene expression change of ATP5G1 (ENSG00000159199) in dendritic
cells after treatment with Mycobacterium tuberculosis:Gene expression of
ATP5G1 (probeID ILMN_1712430) in cerebellum in Alzheimer's disease cases and controls |
|
17 |
47888852 |
2 |
KAT7 |
A |
G |
exonic |
synonymous SNV |
KAT7:NM_001199158:exon4:c.A261G:p.R87R,KAT7:NM_001199156:exon5:c.A351G:p.R117R,KAT7:NM_001199157:exon5:c.A438G:p.R146R,KAT7:NM_001199155:exon6:c.A678G:p.R226R,KAT7:NM_001346706:exon6:c.A528G:p.R176R,KAT7:NM_007067:exon7:c.A768G:p.R256R |
|
17 |
48940422 |
2 |
TOB1 |
T |
C |
exonic |
synonymous SNV |
TOB1:NM_001243885:exon2:c.A540G:p.K180K,TOB1:NM_005749:exon2:c.A957G:p.K319K,TOB1:NM_001243877:exon3:c.A957G:p.K319K |
RS4626 |
Gene expression of TOB1 [probe
228834_at] in lymphoblastoid cell lines:Lp-PLA2 mass:Gene expression of FIS
in peripheral blood monocytes |
|
17 |
53851228 |
2 |
PCTP |
C |
T |
exonic |
synonymous SNV |
PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I |
RS2960062 |
Neuroticism:Simpson-Angus
Scale:Fasting blood glucose:HOMA-IR:Serum creatinine:Waist hip
ratio:Microalbuminuria:Obesity with early age of onset (age >2) |
|
17 |
55027850 |
2 |
COIL |
T |
C |
exonic |
synonymous SNV |
COIL:NM_004645:exon2:c.A753G:p.E251E |
|
17 |
55183203 |
2 |
AKAP1 |
T |
C |
exonic |
synonymous SNV |
AKAP1:NM_003488:exon2:c.T378C:p.D126D,AKAP1:NM_001242902:exon3:c.T378C:p.D126D,AKAP1:NM_001242903:exon3:c.T378C:p.D126D |
RS2230772 |
Triglycerides |
|
17 |
55183716 |
2 |
AKAP1 |
T |
C |
exonic |
synonymous SNV |
AKAP1:NM_003488:exon2:c.T891C:p.D297D,AKAP1:NM_001242902:exon3:c.T891C:p.D297D,AKAP1:NM_001242903:exon3:c.T891C:p.D297D |
|
17 |
56435885 |
2 |
RNF43 |
G |
T |
exonic |
nonsynonymous SNV |
RNF43:NM_001305545:exon8:c.C871A:p.L291M,RNF43:NM_001305544:exon9:c.C1252A:p.L418M,RNF43:NM_017763:exon9:c.C1252A:p.L418M |
RS2526374 |
Differential exon level expression
of SUPT4H1 [probe 3764386] in brain cortex:Serum creatinine:Chronic kidney
disease:Triglycerides:Height:Late onset Alzheimer's disease |
|
17 |
56492800 |
2 |
RNF43 |
T |
C |
exonic |
nonsynonymous SNV |
RNF43:NM_001305544:exon2:c.A139G:p.I47V,RNF43:NM_017763:exon2:c.A139G:p.I47V |
RS3744093 |
Gene expression of C17orf71 in
liver:Differential exon level expression of SUPT4H1 [probe 3764386] in
peripheral blood mononuclear cells:Differential exon level expression of
MTMR4 [probe 3764493] in brain cortex:Differential exon level expression of
SUPT4H1 [probe 3764386] in brain cortex:Differential exon level expression of
MTMR4 [probe 3764493] in peripheral blood mononuclear cells:Barnes Akathisia
Rating Scale:Serum creatinine:Chronic kidney disease:Autism with verbal
ability:Late onset Alzheimer's disease:Gene expression of [probe 6180082
centered at chr17:53974206] in blood:Childhood dental caries:Years of
education:College completion:Gene expression of TRIM37 in normal prepouch
ileum:Docetaxel response in lymphoblastoid cell lines |
|
17 |
56584205 |
2 |
MTMR4 |
A |
C |
exonic |
nonsynonymous SNV |
MTMR4:NM_004687:exon10:c.T890G:p.V297G |
RS2302189 |
Differential exon level expression
of MTMR4 [probe 3764493] in peripheral blood mononuclear cells:Differential
exon level expression of MTMR4 [probe 3764493] in brain cortex:Serum
creatinine:Late onset Alzheimer's disease:Gene expression of RAD51C in blood:Childhood
dental caries:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal
cortex in Alzheimer's disease cases and controls:College completion:Gene
expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in Alzheimer's
disease cases:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal
cortex in non-Alzheimer's disease samples:Gene expression of SEPT4 (probeID
ILMN_2251114) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of SEPT4 (probeID ILMN_2251114) in cerebellum in non-Alzheimer's
disease samples:Years of education:Gene expression of SEPT4 (probeID
ILMN_2251114) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of SEPT4 (probeID ILMN_2251114) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of TRIM37 in normal prepouch
ileum:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in
Alzheimer's disease cases |
|
17 |
56585872 |
2 |
MTMR4 |
G |
C |
exonic |
nonsynonymous SNV |
MTMR4:NM_004687:exon7:c.C508G:p.L170V |
RS3744108 |
Barnes Akathisia Rating Scale:Serum
creatinine:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in
Alzheimer's disease cases and controls:Docetaxel response in lymphoblastoid
cell lines:College completion:Gene expression of TRIM37 in normal prepouch
ileum:Years of education:Gene expression of SEPT4 (probeID ILMN_2251114) in
temporal cortex in Alzheimer's disease cases and controls |
|
17 |
59760996 |
2 |
BRIP1 |
A |
G |
exonic |
synonymous SNV |
BRIP1:NM_032043:exon20:c.T3411C:p.Y1137Y |
RS4986763 |
Cystatin C in serum:Height:Bipolar
disorder |
|
17 |
59763465 |
2 |
BRIP1 |
T |
C |
exonic |
synonymous SNV |
BRIP1:NM_032043:exon19:c.A2637G:p.E879E |
RS4986765 |
Height:Neuroblastoma (brain
cancer):Bipolar disorder |
|
17 |
59955426 |
2 |
INTS2 |
T |
G |
exonic |
nonsynonymous SNV |
INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H |
|
17 |
60043884 |
2 |
MED13 |
G |
A |
exonic |
synonymous SNV |
MED13:NM_005121:exon19:c.C4320T:p.D1440D |
|
17 |
60491144 |
2 |
EFCAB3 |
T |
C |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L |
|
17 |
60493420 |
2 |
EFCAB3 |
G |
A |
exonic |
synonymous SNV |
EFCAB3:NM_173503:exon10:c.G1047A:p.E349E,EFCAB3:NM_001144933:exon12:c.G1203A:p.E401E |
|
17 |
60493465 |
2 |
EFCAB3 |
G |
A |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon10:c.G1092A:p.M364I,EFCAB3:NM_001144933:exon12:c.G1248A:p.M416I |
|
17 |
60493481 |
2 |
EFCAB3 |
T |
G |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon10:c.T1108G:p.S370A,EFCAB3:NM_001144933:exon12:c.T1264G:p.S422A |
|
17 |
60493599 |
2 |
EFCAB3 |
C |
G |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon10:c.C1226G:p.S409C,EFCAB3:NM_001144933:exon12:c.C1382G:p.S461C |
|
17 |
60493634 |
2 |
EFCAB3 |
T |
G |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon10:c.T1261G:p.Y421D,EFCAB3:NM_001144933:exon12:c.T1417G:p.Y473D |
|
17 |
60493662 |
2 |
EFCAB3 |
G |
A |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon10:c.G1289A:p.R430Q,EFCAB3:NM_001144933:exon12:c.G1445A:p.R482Q |
|
17 |
60637441 |
1 |
TLK2 |
G |
A |
exonic |
nonsynonymous SNV |
TLK2:NM_001284363:exon8:c.G689A:p.R230Q,TLK2:NM_001284333:exon10:c.G785A:p.R262Q,TLK2:NM_001330418:exon10:c.G338A:p.R113Q,TLK2:NM_006852:exon10:c.G785A:p.R262Q |
|
17 |
60683503 |
2 |
TLK2 |
A |
G |
exonic |
synonymous SNV |
TLK2:NM_001284363:exon18:c.A1776G:p.P592P,TLK2:NM_001330418:exon20:c.A1425G:p.P475P,TLK2:NM_006852:exon20:c.A1872G:p.P624P,TLK2:NM_001284333:exon21:c.A1938G:p.P646P |
RS8078132 |
LDL cholesterol change with
statins:Total cholesterol:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
17 |
62121480 |
2 |
ERN1 |
T |
C |
exonic |
synonymous SNV |
ERN1:NM_001433:exon22:c.A2802G:p.T934T |
RS196912 |
Differential splicing of ERN1
[probeset 3766657] in lymphoblastoid cell lines:LDL cholesterol:Total
cholesterol:Rheumatoid arthritis:Gene expression of NRM in peripheral blood
monocytes:Autism:Waist hip ratio:Bipolar disorder |
|
17 |
62125272 |
2 |
ERN1 |
A |
G |
exonic |
synonymous SNV |
ERN1:NM_001433:exon19:c.T2475C:p.H825H |
|
17 |
62141455 |
2 |
ERN1 |
A |
G |
exonic |
synonymous SNV |
ERN1:NM_001433:exon10:c.T978C:p.I326I |
|
17 |
63533789 |
2 |
AXIN2 |
T |
C |
exonic |
synonymous SNV |
AXIN2:NM_004655:exon6:c.A1365G:p.P455P |
|
17 |
65104743 |
2 |
HELZ |
G |
A |
exonic |
nonsynonymous SNV |
HELZ:NM_001330447:exon30:c.C4592T:p.A1531V,HELZ:NM_014877:exon30:c.C4589T:p.A1530V |
RS11653020 |
HDL cholesterol:Barnes Akathisia
Rating Scale:HOMA-B:Total cholesterol:HDL cholesterol:PROP taste detection
threshold:College completion:Primary rhegmatogenous retinal
detachment:Transmission distortion:Paternal transmission distortion |
|
17 |
65739627 |
2 |
NOL11 |
A |
G |
exonic |
synonymous SNV |
NOL11:NM_001303272:exon16:c.A1422G:p.A474A,NOL11:NM_015462:exon17:c.A1968G:p.A656A |
|
17 |
65822607 |
2 |
|
17 |
65989048 |
2 |
C17orf58 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf58:NM_181656:exon2:c.A215G:p.E72G |
|
17 |
66246416 |
2 |
AMZ2 |
A |
G |
exonic |
nonsynonymous SNV |
AMZ2:NM_001033574:exon2:c.A88G:p.N30D,AMZ2:NM_001346471:exon2:c.A88G:p.N30D,AMZ2:NM_001346480:exon2:c.A88G:p.N30D,AMZ2:NM_016627:exon2:c.A88G:p.N30D,AMZ2:NM_001033569:exon3:c.A88G:p.N30D,AMZ2:NM_001033570:exon3:c.A88G:p.N30D,AMZ2:NM_001033571:exon3:c.A88G:p.N30D,AMZ2:NM_001033572:exon3:c.A88G:p.N30D,AMZ2:NM_001289054:exon3:c.A88G:p.N30D,AMZ2:NM_001289056:exon3:c.A88G:p.N30D,AMZ2:NM_001346472:exon3:c.A88G:p.N30D,AMZ2:NM_001346473:exon3:c.A88G:p.N30D,AMZ2:NM_001346474:exon3:c.A88G:p.N30D,AMZ2:NM_001346475:exon3:c.A88G:p.N30D,AMZ2:NM_001346476:exon3:c.A88G:p.N30D,AMZ2:NM_001346477:exon3:c.A88G:p.N30D,AMZ2:NM_001346478:exon3:c.A88G:p.N30D,AMZ2:NM_001346479:exon3:c.A88G:p.N30D |
RS3213690 |
Differential exon level expression
of AMZ2 [probe 3732766] in peripheral blood mononuclear cells:Fasting
insulin:HDL cholesterol:Total cholesterol:Serum creatinine:Systolic blood
pressure (SBP):Cognitive response of healthy volunteers to topiramate treatment
as measure by the Delayed Story Recall cognitive test:Gene expression change
of SLC16A6 (ENSG00000108932) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of AMZ2 (ENSG00000196704) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
AMZ2 in normal prepouch ileum |
|
17 |
66253095 |
2 |
AMZ2 |
T |
A |
exonic |
synonymous SNV |
AMZ2:NM_001033574:exon6:c.T894A:p.A298A,AMZ2:NM_001346480:exon6:c.T894A:p.A298A,AMZ2:NM_001346471:exon7:c.T1068A:p.A356A,AMZ2:NM_001346481:exon7:c.T966A:p.A322A,AMZ2:NM_001346484:exon7:c.T966A:p.A322A,AMZ2:NM_001346485:exon7:c.T900A:p.A300A,AMZ2:NM_016627:exon7:c.T1068A:p.A356A,AMZ2:NM_001033569:exon8:c.T1068A:p.A356A,AMZ2:NM_001033570:exon8:c.T1068A:p.A356A,AMZ2:NM_001033571:exon8:c.T1068A:p.A356A,AMZ2:NM_001033572:exon8:c.T1068A:p.A356A,AMZ2:NM_001289054:exon8:c.T1068A:p.A356A,AMZ2:NM_001289056:exon8:c.T1068A:p.A356A,AMZ2:NM_001346472:exon8:c.T1068A:p.A356A,AMZ2:NM_001346473:exon8:c.T1068A:p.A356A,AMZ2:NM_001346474:exon8:c.T1068A:p.A356A,AMZ2:NM_001346475:exon8:c.T1068A:p.A356A,AMZ2:NM_001346476:exon8:c.T1068A:p.A356A,AMZ2:NM_001346477:exon8:c.T1068A:p.A356A,AMZ2:NM_001346478:exon8:c.T1068A:p.A356A,AMZ2:NM_001346479:exon8:c.T1068A:p.A356A,AMZ2:NM_001346482:exon8:c.T966A:p.A322A,AMZ2:NM_001346483:exon8:c.T966A:p.A322A |
RS7105 |
Transcript initiation of AMZ2 in
lymphoblastoid cell lines:LDL cholesterol:Waist hip ratio:Gene expression of
AMZ2 in liver |
|
17 |
66449122 |
2 |
WIPI1 |
G |
A |
exonic |
nonsynonymous SNV |
WIPI1:NM_017983:exon2:c.C92T:p.T31I |
RS883541 |
Spine bone mineral density
(BMD):Rheumatoid arthritis:Biploar disorder (bipolar schizoaffective
disorder):Alzheimer's disease:Total cholesterol:Serum creatinine:Gene
expression of WIPI1 in peripheral blood monocytes:Gene expression of BAZ2A in
peripheral blood monocytes:Gene expression of PRKAR1A in peripheral blood
monocytes:Partial epilepsy:LDL cholesterol:Triglycerides:Asthma:Gene
expression of PRKAR1A in blood:Gene expression of ARSG///WIPI1 in blood:Gene
expression of WIPI1 in normal prepouch ileum:Primary rhegmatogenous retinal
detachment |
|
17 |
70943990 |
2 |
SLC39A11 |
T |
C |
exonic |
nonsynonymous SNV |
SLC39A11:NM_001159770:exon5:c.A331G:p.T111A,SLC39A11:NM_139177:exon5:c.A331G:p.T111A |
RS2466517 |
Asthma |
|
17 |
71232804 |
2 |
C17orf80 |
C |
A |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_001288770:exon3:c.C1183A:p.H395N,C17orf80:NM_001288771:exon3:c.C1183A:p.H395N,C17orf80:NM_001351264:exon3:c.C1183A:p.H395N,C17orf80:NM_001351265:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N |
|
17 |
72949146 |
2 |
HID1 |
C |
T |
exonic |
synonymous SNV |
HID1:NM_030630:exon16:c.G2007A:p.P669P |
RS2307010 |
Waist hip
ratio:Microalbuminuria:Gene expression of USH1G (ENSG00000182040) in
dendritic cells:Gene expression change of USH1G (ENSG00000182040) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression change of CDR2L (ENSG00000109089) in dendritic cells after
treatment with Mycobacterium tuberculosis:Birth weight |
|
17 |
72952017 |
2 |
HID1 |
A |
G |
exonic |
synonymous SNV |
HID1:NM_030630:exon13:c.T1506C:p.T502T |
|
17 |
73089852 |
2 |
SLC16A5 |
T |
C |
exonic |
synonymous SNV |
SLC16A5:NM_001271765:exon3:c.T121C:p.L41L,SLC16A5:NM_004695:exon3:c.T121C:p.L41L |
RS4788863 |
Gene expression of MRPS7 in
peripheral blood monocytes:Tyrosine:Uracil:Uracil:trans-Aconitate |
|
17 |
73127683 |
2 |
NT5C |
T |
C |
exonic |
synonymous SNV |
NT5C:NM_001252377:exon1:c.A120G:p.Q40Q,NT5C:NM_014595:exon1:c.A120G:p.Q40Q |
|
17 |
73230856 |
2 |
NUP85 |
C |
T |
exonic |
synonymous SNV |
NUP85:NM_001303276:exon16:c.C1602T:p.D534D,NUP85:NM_001330472:exon16:c.C1605T:p.D535D,NUP85:NM_024844:exon17:c.C1740T:p.D580D |
RS9988 |
HOMA-IR:Fasting
insulin:Triglycerides:Waist hip ratio:Body mass index (BMI):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Years of education:Gene expression of NUP85 (probeID ILMN_1669635) in
cerebellum in Alzheimer's disease cases and controls:Birth weight:Infant head
circumference:Gene expression of NUP85 (probeID ILMN_1669635) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of NUP85 in
normal prepouch ileum:Advanced age-related macular degeneration:Gene
expression of MRPS7 in normal prepouch ileum |
|
17 |
73269676 |
2 |
SLC25A19 |
C |
T |
exonic |
synonymous SNV |
SLC25A19:NM_001126122:exon7:c.G819A:p.L273L,SLC25A19:NM_001126121:exon8:c.G819A:p.L273L,SLC25A19:NM_021734:exon8:c.G819A:p.L273L |
|
17 |
73279624 |
2 |
SLC25A19 |
A |
G |
exonic |
synonymous SNV |
SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y |
|
17 |
73488794 |
2 |
TMEM94 |
C |
T |
exonic |
synonymous SNV |
TMEM94:NM_001321148:exon14:c.C1866T:p.I622I,TMEM94:NM_001351203:exon14:c.C1866T:p.I622I,TMEM94:NM_001321149:exon15:c.C1848T:p.I616I,TMEM94:NM_001351202:exon15:c.C1788T:p.I596I,TMEM94:NM_014738:exon15:c.C1836T:p.I612I |
RS4078259 |
Differential exon level expression
of KIAA0195 [probe 3734819] in brain cortex:Asthma:Age at death with kuru
exposure:Years of education:Salmonella-induced pyroptosis |
|
17 |
73498483 |
2 |
CASKIN2 |
T |
C |
exonic |
nonsynonymous SNV |
CASKIN2:NM_001142643:exon17:c.A2426G:p.E809G,CASKIN2:NM_020753:exon18:c.A2672G:p.E891G |
|
17 |
73512884 |
2 |
TSEN54 |
T |
G |
exonic |
nonsynonymous SNV |
TSEN54:NM_207346:exon2:c.T114G:p.H38Q |
RS8079373 |
Chronic kidney disease:Serum
creatinine:Methylation levels at chr17:71033668-71033718 [hg18 coord, probe
cg21391660] in Temporal cortex:Years of education |
|
17 |
73513289 |
2 |
TSEN54 |
C |
G |
exonic |
synonymous SNV |
TSEN54:NM_207346:exon4:c.C333G:p.R111R |
RS6501818 |
Serum creatinine:Chronic kidney
disease:Methylation levels at chr17:71033668-71033718 [hg18 coord, probe
cg21391660] in Temporal cortex:Years of education |
|
17 |
73518284 |
2 |
TSEN54 |
G |
C |
exonic |
synonymous SNV |
TSEN54:NM_207346:exon8:c.G1122C:p.R374R |
RS6501820 |
Triglycerides:HDL
cholesterol:Cystatin C in serum:Height:PROP taste detection threshold:Years
of education |
|
17 |
73518328 |
2 |
TSEN54 |
A |
C |
exonic |
nonsynonymous SNV |
TSEN54:NM_207346:exon8:c.A1166C:p.Q389P |
|
17 |
73552185 |
2 |
LLGL2 |
G |
A |
exonic |
nonsynonymous SNV |
LLGL2:NM_001015002:exon3:c.G134A:p.R45H,LLGL2:NM_001031803:exon3:c.G134A:p.R45H,LLGL2:NM_004524:exon3:c.G134A:p.R45H |
RS1671036 |
Neuroblastoma (brain
cancer):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
17 |
73625478 |
2 |
RECQL5 |
T |
C |
exonic |
synonymous SNV |
RECQL5:NM_004259:exon16:c.A2025G:p.T675T |
|
17 |
73627565 |
2 |
RECQL5 |
A |
G |
exonic |
synonymous SNV |
RECQL5:NM_004259:exon9:c.T1413C:p.Y471Y |
|
17 |
73750859 |
2 |
ITGB4 |
C |
G |
exonic |
synonymous SNV |
ITGB4:NM_001005619:exon32:c.C4311G:p.P1437P,ITGB4:NM_001005731:exon33:c.C4311G:p.P1437P,ITGB4:NM_001321123:exon33:c.C4311G:p.P1437P,ITGB4:NM_000213:exon34:c.C4521G:p.P1507P |
|
17 |
73812909 |
2 |
UNK |
A |
G |
exonic |
synonymous SNV |
UNK:NM_001080419:exon8:c.A1020G:p.P340P |
RS9908146 |
LDL cholesterol:PROP taste detection
threshold:Parkinson's disease |
|
17 |
73816026 |
2 |
UNK |
A |
G |
exonic |
synonymous SNV |
UNK:NM_001080419:exon13:c.A1674G:p.A558A |
RS11868471 |
LDL cholesterol:Chronic kidney
disease:PROP taste detection threshold:Parkinson's disease |
|
17 |
73949540 |
2 |
ACOX1 |
G |
C |
exonic |
nonsynonymous SNV |
ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M,ACOX1:NM_007292:exon7:c.C936G:p.I312M |
RS1135640 |
Serum creatinine |
|
17 |
74475024 |
2 |
RHBDF2 |
G |
A |
exonic |
nonsynonymous SNV |
RHBDF2:NM_001005498:exon5:c.C536T:p.P179L,RHBDF2:NM_024599:exon6:c.C623T:p.P208L |
|
17 |
74732507 |
2 |
SRSF2 |
A |
G |
exonic |
synonymous SNV |
SRSF2:NM_001195427:exon2:c.T402C:p.S134S,SRSF2:NM_003016:exon2:c.T402C:p.S134S |
|
17 |
74733099 |
2 |
SRSF2 |
G |
A |
exonic |
synonymous SNV |
SRSF2:NM_001195427:exon1:c.C144T:p.D48D,SRSF2:NM_003016:exon1:c.C144T:p.D48D |
RS237057 |
Gene expression of MXRA7 in normal
prepouch ileum |
|
17 |
75190846 |
2 |
SEC14L1 |
A |
C |
exonic |
nonsynonymous SNV |
SEC14L1:NM_001144001:exon5:c.A460C:p.T154P,SEC14L1:NM_001039573:exon7:c.A562C:p.T188P,SEC14L1:NM_001143998:exon7:c.A562C:p.T188P,SEC14L1:NM_001143999:exon7:c.A562C:p.T188P,SEC14L1:NM_003003:exon7:c.A562C:p.T188P,SEC14L1:NM_001204410:exon8:c.A562C:p.T188P,SEC14L1:NM_001204408:exon9:c.A562C:p.T188P |
|
17 |
75190962 |
2 |
SEC14L1 |
C |
T |
exonic |
synonymous SNV |
SEC14L1:NM_001144001:exon5:c.C576T:p.S192S,SEC14L1:NM_001039573:exon7:c.C678T:p.S226S,SEC14L1:NM_001143998:exon7:c.C678T:p.S226S,SEC14L1:NM_001143999:exon7:c.C678T:p.S226S,SEC14L1:NM_003003:exon7:c.C678T:p.S226S,SEC14L1:NM_001204410:exon8:c.C678T:p.S226S,SEC14L1:NM_001204408:exon9:c.C678T:p.S226S |
RS674402 |
Refractive error |
|
17 |
76130575 |
2 |
TMC8 |
A |
T |
exonic |
nonsynonymous SNV |
TMC8:NM_152468:exon8:c.A917T:p.N306I |
RS7208422 |
Lp-PLA2 activity:Waist hip
ratio:Maternal transmission distortion |
|
17 |
76157266 |
2 |
C17orf99 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf99:NM_001163075:exon3:c.T301C:p.W101R |
RS4071641 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Waist hip ratio |
|
17 |
76167047 |
2 |
SYNGR2 |
C |
T |
exonic |
synonymous SNV |
SYNGR2:NM_001320523:exon2:c.C249T:p.A83A,SYNGR2:NM_004710:exon2:c.C249T:p.A83A |
|
17 |
76219591 |
2 |
BIRC5 |
G |
A |
exonic |
nonsynonymous SNV |
BIRC5:NM_001168:exon4:c.G385A:p.E129K,BIRC5:NM_001012271:exon5:c.G454A:p.E152K |
RS2071214 |
LDL cholesterol:Premature ovarian
failure:Alcohol dependence symptoms:Years of education:College
completion:Mitral annular calcium |
|
17 |
76433898 |
2 |
DNAH17 |
T |
C |
exonic |
nonsynonymous SNV |
DNAH17:NM_173628:exon74:c.A11858G:p.H3953R |
|
17 |
76449505 |
2 |
DNAH17 |
G |
C |
exonic |
synonymous SNV |
DNAH17:NM_173628:exon65:c.C10449G:p.T3483T |
RS2289751 |
Infant head circumference |
|
17 |
76462770 |
2 |
DNAH17 |
G |
A |
exonic |
synonymous SNV |
DNAH17:NM_173628:exon56:c.C8907T:p.S2969S |
|
17 |
76481693 |
2 |
DNAH17 |
C |
G |
exonic |
synonymous SNV |
DNAH17:NM_173628:exon47:c.G7422C:p.T2474T |
RS11872051 |
Fasting blood glucose |
|
17 |
76496492 |
2 |
DNAH17 |
A |
G |
exonic |
synonymous SNV |
DNAH17:NM_173628:exon36:c.T5535C:p.P1845P |
RS2028734 |
HOMA-B:HOMA-IR:Fasting
insulin:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Obesity with
early age of onset (age >2) |
|
17 |
76970879 |
2 |
LGALS3BP |
A |
G |
exonic |
synonymous SNV |
LGALS3BP:NM_005567:exon4:c.T267C:p.D89D |
|
17 |
77705045 |
2 |
ENPP7 |
T |
C |
exonic |
synonymous SNV |
ENPP7:NM_178543:exon1:c.T144C:p.D48D |
RS8074728 |
HOMA-B:Total cholesterol |
|
17 |
77926491 |
2 |
TBC1D16 |
G |
A |
exonic |
synonymous SNV |
TBC1D16:NM_019020:exon4:c.C906T:p.D302D |
|
17 |
78013724 |
2 |
CCDC40 |
G |
C |
exonic |
synonymous SNV |
CCDC40:NM_001243342:exon3:c.G207C:p.V69V,CCDC40:NM_001330508:exon3:c.G207C:p.V69V,CCDC40:NM_017950:exon3:c.G207C:p.V69V |
RS2289527 |
Chronic kidney disease:LDL
cholesterol |
|
17 |
79095144 |
2 |
AATK |
G |
A |
exonic |
synonymous SNV |
AATK:NM_004920:exon10:c.C2283T:p.A761A,AATK:NM_001080395:exon11:c.C2592T:p.A864A |
|
17 |
79171967 |
2 |
CEP131 |
A |
G |
exonic |
nonsynonymous SNV |
CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A |
|
17 |
79174221 |
2 |
CEP131 |
T |
C |
exonic |
nonsynonymous SNV |
CEP131:NM_001009811:exon8:c.A814G:p.T272A,CEP131:NM_001319228:exon8:c.A814G:p.T272A,CEP131:NM_001319229:exon8:c.A814G:p.T272A,CEP131:NM_014984:exon8:c.A814G:p.T272A |
RS2466773 |
HDL cholesterol:LDL cholesterol:2
hour glucose:LDL cholesterol:Infant head circumference |
|
17 |
79508400 |
2 |
FAAP100 |
T |
C |
exonic |
nonsynonymous SNV |
FAAP100:NM_025161:exon8:c.A2449G:p.T817A |
RS14422 |
Salmonella-induced pyroptosis |
|
17 |
79589242 |
2 |
NPLOC4 |
G |
A |
exonic |
synonymous SNV |
NPLOC4:NM_017921:exon3:c.C159T:p.T53T |
RS6565604 |
Gene expression of LOC339229 in CHB
lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT lymphoblastoid
cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI lymphoblastoid cell
lines:LDL cholesterol:Fasting insulin:LDL cholesterol change with statins:Urinary
albumin-to-creatinine ratio:Gene expression change of MRPL12
(ENSG00000183048) in dendritic cells after treatment with Mycobacterium
tuberculosis:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
17 |
79596811 |
2 |
NPLOC4 |
C |
T |
exonic |
synonymous SNV |
NPLOC4:NM_017921:exon2:c.G36A:p.P12P |
RS9894429 |
Gene expression of LOC339229 in
CHB lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT
lymphoblastoid cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI
lymphoblastoid cell lines:Hip bone mineral density (BMD):Irritible bowel
syndrome:LDL cholesterol:Differential exon level expression of NPLOC4 [probe
3774090] in peripheral blood mononuclear cells:Differential exon level
expression of NPLOC4 [probe 3774090] in brain cortex:Gene expression of
TSPAN10 [probe ILMN_12531] in osteoblasts:Fasting insulin:LDL cholesterol
change with statins:Eye color - Hue-Saturation 1st principal component:Eye
color:Eye color (3 category color classification):Eye color (CHS1):Eye color
(5 category color classification):Eye color (saturation):Eye color (hue):Urinary
albumin-to-creatinine ratio:Gene expression of C17orf90 in blood:Gene
expression of PDE6G (probeID ILMN_1718299) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of TSPAN10 (probeID ILMN_1656194)
in temporal cortex in non-Alzheimer's disease samples:Gene expression of
TSPAN10 (probeID ILMN_1656194) in cerebellum in non-Alzheimer's disease
samples:Gene expression of PDE6G (probeID ILMN_1718299) in temporal cortex in
non-Alzheimer's disease samples:Gene expression of TSPAN10 (probeID
ILMN_1656194) in temporal cortex in Alzheimer's disease cases:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Gene expression of TSPAN10 (probeID
ILMN_1656194) in cerebellum in Alzheimer's disease cases:Primary
rhegmatogenous retinal detachment:Gene expression of TSPAN10 (probeID
ILMN_1656194) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TSPAN10 (probeID ILMN_1656194) in cerebellum in
Alzheimer's disease cases and controls |
|
17 |
79637349 |
2 |
CCDC137 |
T |
C |
exonic |
synonymous SNV |
CCDC137:NM_199287:exon3:c.T363C:p.S121S |
|
17 |
79682558 |
2 |
SLC25A10 |
T |
C |
exonic |
synonymous SNV |
SLC25A10:NM_001270888:exon3:c.T264C:p.R88R,SLC25A10:NM_001270953:exon3:c.T264C:p.R88R,SLC25A10:NM_012140:exon3:c.T264C:p.R88R |
RS2072700 |
Myopia:Gene expression of CCDC137
(ENSG00000185298) in dendritic cells treated with Mycobacterium tuberculosis |
|
17 |
79687218 |
2 |
SLC25A10 |
G |
A |
exonic |
nonsynonymous SNV |
SLC25A10:NM_001270953:exon11:c.G892A:p.V298I |
RS11150813 |
Myopia |
|
17 |
79872241 |
2 |
SIRT7 |
A |
G |
exonic |
synonymous SNV |
SIRT7:NM_016538:exon7:c.T745C:p.L249L |
|
17 |
79891147 |
2 |
PYCR1 |
T |
C |
exonic |
synonymous SNV |
PYCR1:NM_001282279:exon7:c.A810G:p.S270S,PYCR1:NM_006907:exon7:c.A903G:p.S301S,PYCR1:NM_001282280:exon8:c.A903G:p.S301S,PYCR1:NM_001282281:exon8:c.A984G:p.S328S |
|
17 |
79954544 |
2 |
ASPSCR1 |
T |
A |
exonic |
nonsynonymous SNV |
ASPSCR1:NM_001330528:exon6:c.T524A:p.L175Q,ASPSCR1:NM_001251888:exon7:c.T755A:p.L252Q,ASPSCR1:NM_024083:exon7:c.T755A:p.L252Q |
RS8074498 |
Serum creatinine:LDL
cholesterol:Total cholesterol:Waist hip ratio:Body mass index (BMI):PROP
taste detection threshold |
|
17 |
80006957 |
2 |
RFNG |
A |
C |
exonic |
nonsynonymous SNV |
RFNG:NM_002917:exon7:c.T864G:p.H288Q |
|
17 |
80008392 |
2 |
RFNG |
G |
T |
exonic |
synonymous SNV |
RFNG:NM_002917:exon4:c.C459A:p.A153A |
RS9916764 |
Fasting insulin:HOMA-IR:Serum
creatinine:Chronic kidney disease:Gene expression of DCXR in peripheral blood
monocytes:Total cholesterol:Body mass index (BMI):Paternal transmission
distortion:Coronary artery disease (CAD) |
|
17 |
80195582 |
2 |
SLC16A3 |
T |
C |
exonic |
synonymous SNV |
SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G |
|
17 |
80391684 |
2 |
HEXDC |
A |
G |
exonic |
nonsynonymous SNV |
HEXDC:NM_001330542:exon5:c.A433G:p.I145V,HEXDC:NM_173620:exon5:c.A433G:p.I145V |
RS4789773 |
Gene expression of NARF in YRI
lymphoblastoid cell lines:Gene expression of NARF [probe 219862_s_at] in
lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Total
cholesterol:Gene expression of HEXDC in blood:Age at death with kuru
exposure:Obesity with early age of onset (age >2):Advanced age-related
macular degeneration:Gene expression of NARF in normal prepouch ileum |
|
17 |
80401946 |
2 |
C17orf62 |
A |
G |
exonic |
synonymous SNV |
C17orf62:NM_001100408:exon6:c.T456C:p.L152L,C17orf62:NM_001033046:exon7:c.T498C:p.L166L,C17orf62:NM_001193654:exon7:c.T498C:p.L166L,C17orf62:NM_001193655:exon7:c.T498C:p.L166L,C17orf62:NM_001100407:exon8:c.T498C:p.L166L,C17orf62:NM_001193653:exon8:c.T498C:p.L166L,C17orf62:NM_001193657:exon8:c.T498C:p.L166L |
RS2306758 |
Gene expression of HEXDC in
blood:Comorbid depressive syndrome and alcohol dependence:Gene expression
change of C17orf101 (ENSG00000181396) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression change of C17orf62 (ENSG00000178927)
in dendritic cells after treatment with Mycobacterium
tuberculosis:Hypertension (early onset hypertension) |
|
17 |
80585094 |
2 |
WDR45B |
C |
T |
exonic |
synonymous SNV |
WDR45B:NM_019613:exon4:c.G318A:p.K106K |
|
17 |
80674643 |
2 |
FN3KRP |
C |
G |
exonic |
synonymous SNV |
FN3KRP:NM_024619:exon1:c.C12G:p.L4L |
|
17 |
80696410 |
2 |
FN3K |
A |
C |
exonic |
synonymous SNV |
FN3K:NM_022158:exon2:c.A187C:p.R63R |
|
17 |
80708601 |
2 |
FN3K |
C |
G |
exonic |
synonymous SNV |
FN3K:NM_022158:exon6:c.C900G:p.S300S |
RS1056534 |
Gene expression of FN3KRP in
Temporal cortex |
|
17 |
80895933 |
2 |
TBCD |
A |
G |
exonic |
nonsynonymous SNV |
TBCD:NM_005993:exon36:c.A3290G:p.E1097G |
RS3785522 |
Coronary artery disease
(CAD):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
17 |
100668296 |
2 |
|
18 |
252559 |
2 |
THOC1 |
G |
A |
exonic |
synonymous SNV |
THOC1:NM_005131:exon9:c.C657T:p.D219D |
|
18 |
724612 |
2 |
YES1 |
A |
G |
exonic |
synonymous SNV |
YES1:NM_005433:exon12:c.T1444C:p.L482L |
|
18 |
2539016 |
2 |
METTL4 |
C |
G |
exonic |
nonsynonymous SNV |
METTL4:NM_022840:exon9:c.G1402C:p.V468L |
|
18 |
2608764 |
1 |
NDC80 |
G |
A |
exonic |
synonymous SNV |
NDC80:NM_006101:exon15:c.G1623A:p.L541L |
|
18 |
2707619 |
2 |
SMCHD1 |
G |
A |
exonic |
nonsynonymous SNV |
SMCHD1:NM_015295:exon16:c.G2122A:p.V708I |
RS2276092 |
Longstanding arthritis:Height:Atopic
dermatitis |
|
18 |
2724930 |
2 |
SMCHD1 |
A |
T |
exonic |
nonsynonymous SNV |
SMCHD1:NM_015295:exon21:c.A2637T:p.K879N |
RS633422 |
Total cholesterol:Height:Body mass
index (BMI):Birth weight:Prostate cancer:Transmission distortion:Maternal
transmission distortion:Infant head circumference |
|
18 |
2763697 |
2 |
SMCHD1 |
C |
T |
exonic |
synonymous SNV |
SMCHD1:NM_015295:exon37:c.C4629T:p.G1543G |
RS483547 |
Total
cholesterol:Triglycerides:Height:Birth weight:Advanced age-related macular
degeneration (geographic atrophy):Infant head circumference |
|
18 |
5292030 |
2 |
ZBTB14 |
A |
G |
exonic |
synonymous SNV |
ZBTB14:NM_003409:exon3:c.T177C:p.T59T,ZBTB14:NM_001143823:exon4:c.T177C:p.T59T,ZBTB14:NM_001243702:exon4:c.T177C:p.T59T,ZBTB14:NM_001243704:exon4:c.T177C:p.T59T |
RS620652 |
Irritible bowel syndrome:HDL
cholesterol:Schizophrenia:Partial epilepsy:HDL cholesterol:PROP taste
detection threshold:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Tetrology of fallot |
|
18 |
8069868 |
2 |
PTPRM |
C |
T |
exonic |
synonymous SNV |
PTPRM:NM_001105244:exon8:c.C1317T:p.N439N,PTPRM:NM_002845:exon8:c.C1317T:p.N439N |
RS2230601 |
Alzheimer's
disease:Microalbuminuria:Comorbid depressive syndrome and alcohol
dependence:Bipolar disorder |
|
18 |
8387195 |
2 |
PTPRM |
G |
A |
exonic |
synonymous SNV |
PTPRM:NM_002845:exon29:c.G4131A:p.E1377E,PTPRM:NM_001105244:exon31:c.G4170A:p.E1390E |
RS593978 |
Triglycerides:Fasting blood
glucose:Rheumatoid arthritis |
|
18 |
8387219 |
2 |
PTPRM |
G |
C |
exonic |
synonymous SNV |
PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T |
RS593950 |
Triglycerides:Fasting blood
glucose:Rheumatoid arthritis |
|
18 |
9117867 |
2 |
NDUFV2 |
T |
C |
exonic |
nonsynonymous SNV |
NDUFV2:NM_021074:exon2:c.T86C:p.V29A |
RS906807 |
LDL cholesterol:Years of education |
|
18 |
9255982 |
2 |
ANKRD12 |
A |
G |
exonic |
nonsynonymous SNV |
ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R |
RS4798791 |
Schizophrenia:Barnes Akathisia
Rating Scale:Celiac disease:Total cholesterol change with statins:LDL
cholesterol:LDL cholesterol change with statins:Alopecia areata:Body mass
index (BMI):Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene
expression of ANKRD12 in blood:Years of education:Aortic valve calcium |
|
18 |
10758023 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N |
RS7407105 |
Salmonella-induced pyroptosis |
|
18 |
10763007 |
2 |
PIEZO2 |
T |
C |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon20:c.A2961G:p.T987T |
RS7227167 |
Irritible bowel
syndrome:Salmonella-induced pyroptosis |
|
18 |
12984144 |
2 |
SEH1L |
C |
A |
exonic |
nonsynonymous SNV |
SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N |
RS6505776 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene
expression of CEP192 in blood cells in Celiac disease:Differential exon level
expression of CEP192 [probe 3779866] in brain cortex:Differential exon level
expression of CEP192 [probe 3779874] in brain cortex:Differential exon level
expression of CEP192 [probe 3779874] in peripheral blood mononuclear
cells:Differential exon level expression of CEP192 [probe 3779864] in brain
cortex:Differential exon level expression of CEP192 [probe 3779870] in brain
cortex:Differential exon level expression of CEP192 [probe 3779865] in brain
cortex:Differential exon level expression of CEP192 [probe 3779862] in brain
cortex:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192
in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+
lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of
SEH1L in blood:Gene expression of CEP192 [probeset 218827_s_at] in
sputum:Hypertension (early onset hypertension):Refractive error:Gene
expression of CEP192 in normal prepouch ileum:Gene expression of CEP192
(probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Primary rhegmatogenous retinal detachment:Gene
expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's
disease cases and controls:Infant head circumference:College completion |
|
18 |
13001512 |
2 |
CEP192 |
G |
C |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon3:c.G221C:p.G74A |
RS4499304 |
Fasting blood glucose:Serum
creatinine:Gene expression of CEP192 in Caudal pons:Height:Refractive
error:College completion:Years of education |
|
18 |
13001523 |
2 |
CEP192 |
G |
A |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon3:c.G232A:p.G78R |
RS11080618 |
Triglycerides:Serum
creatinine:Height:Refractive error:Years of education |
|
18 |
13056333 |
2 |
CEP192 |
C |
T |
exonic |
synonymous SNV |
CEP192:NM_032142:exon19:c.C3744T:p.H1248H |
RS2282541 |
Triglycerides:Serum
creatinine:Comorbid depressive syndrome and alcohol dependence:Gene
expression of CEP192 in normal prepouch ileum:Refractive error |
|
18 |
13068132 |
2 |
CEP192 |
T |
C |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon23:c.T4654C:p.S1552P |
RS578208 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Differential exon level expression
of CEP192 [probe 3779870] in brain cortex:Differential exon level expression
of CEP192 [probe 3779864] in brain cortex:Differential exon level expression
of CEP192 [probe 3779874] in brain cortex:Differential exon level expression
of CEP192 [probe 3779865] in brain cortex:Differential exon level expression
of CEP192 [probe 3779862] in brain cortex:Differential exon level expression
of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Differential
exon level expression of CEP192 [probe 3779866] in brain cortex:Differential
exon level expression of CEP192 [probe 3779874] in peripheral blood
mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Caudal
pons:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192
in peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in
CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Hypertension (early
onset hypertension):Primary rhegmatogenous retinal detachment:Gene expression
of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of CEP192 in normal prepouch ileum:Years of
education:Refractive error:College completion:Infant head circumference:Gene
expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's
disease cases and controls |
|
18 |
13069782 |
2 |
CEP192 |
C |
T |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon27:c.C5101T:p.L1701F |
RS6505780 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Alzheimer's disease:Gene expression
of CEP192 in lymphoblastoid cell lines:Gene expression of CEP192 in blood
cells in Celiac disease:Differential exon level expression of CEP192 [probe
3779870] in brain cortex:Differential exon level expression of CEP192 [probe
3779864] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in brain cortex:Differential exon level expression of CEP192 [probe
3779865] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in peripheral blood mononuclear cells:Differential exon level
expression of CEP192 [probe 3779862] in brain cortex:Differential exon level
expression of CEP192 [probe 3779866] in brain cortex:Differential exon level
expression of CEP192 [probe 3779870] in peripheral blood mononuclear
cells:Fasting blood glucose:Gene expression of CEP192 in Caudal pons:Gene
expression of CEP192 in Temporal cortex:Gene expression of CEP192 in
peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in CD4+
lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of
CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases
and controls:Refractive error:Primary rhegmatogenous retinal detachment:Gene
expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's
disease cases and controls:Years of education:College completion:Hypertension
(early onset hypertension):Gene expression of CEP192 in normal prepouch
ileum:Infant head circumference |
|
18 |
13095609 |
2 |
CEP192 |
T |
C |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon35:c.T6362C:p.L2121P |
RS474337 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood
cells in Celiac disease:Differential exon level expression of CEP192 [probe
3779870] in brain cortex:Differential exon level expression of CEP192 [probe
3779864] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in brain cortex:Differential exon level expression of CEP192 [probe
3779865] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in peripheral blood mononuclear cells:Differential exon level
expression of CEP192 [probe 3779862] in brain cortex:Differential exon level
expression of CEP192 [probe 3779866] in brain cortex:Differential exon level
expression of CEP192 [probe 3779870] in peripheral blood mononuclear
cells:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in
Temporal cortex:LDL cholesterol:Gene expression of CEP192 in CD4+
lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of
CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases
and controls:Refractive error:College completion:Gene expression of CEP192
(probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and
controls:Infant head circumference:Gene expression of CEP192 in normal
prepouch ileum:Years of education:Primary rhegmatogenous retinal
detachment:Hypertension (early onset hypertension) |
|
18 |
13116432 |
2 |
CEP192 |
G |
T |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon43:c.G7346T:p.R2449L |
RS1786263 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood
cells in Celiac disease:Differential exon level expression of CEP192 [probe
3779870] in brain cortex:Differential exon level expression of CEP192 [probe
3779864] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in brain cortex:Differential exon level expression of CEP192 [probe
3779865] in brain cortex:Differential exon level expression of CEP192 [probe
3779874] in peripheral blood mononuclear cells:Differential exon level
expression of CEP192 [probe 3779862] in brain cortex:Differential exon level
expression of CEP192 [probe 3779866] in brain cortex:Differential exon level
expression of CEP192 [probe 3779870] in peripheral blood mononuclear
cells:Differential exon level expression of CEP192 [probeset 3779866] in
peripheral blood mononuclear cells:Differential exon level expression of
CEP192 [probeset 3779862] in peripheral blood mononuclear cells:Fasting blood
glucose:Gene expression of CEP192 in Temporal cortex:Gene expression of
CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+
lymphocytes:Height:Gene expression of CEP192 in blood:Years of education:Gene
expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's
disease cases and controls:Hypertension (early onset hypertension):Refractive
error:College completion:Primary rhegmatogenous retinal detachment:Infant
head circumference:Gene expression of CEP192 in normal prepouch ileum:Gene
expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's
disease cases and controls:Aortic valve calcium |
|
18 |
19153494 |
2 |
ESCO1 |
C |
T |
exonic |
synonymous SNV |
ESCO1:NM_052911:exon4:c.G1311A:p.T437T |
RS973730 |
Fasting blood glucose:Advanced
age-related macular degeneration (geographic atrophy):Maternal transmission
distortion:Transmission distortion:Infant head circumference |
|
18 |
19154143 |
1 |
ESCO1 |
G |
A |
exonic |
nonsynonymous SNV |
ESCO1:NM_052911:exon4:c.C662T:p.T221M |
RS13381941 |
HOMA-IR:Serum creatinine |
|
18 |
20577669 |
1 |
RBBP8 |
G |
A |
exonic |
synonymous SNV |
RBBP8:NM_002894:exon14:c.G2115A:p.K705K,RBBP8:NM_203291:exon14:c.G2115A:p.K705K,RBBP8:NM_203292:exon14:c.G2115A:p.K705K |
|
18 |
21100240 |
1 |
C18orf8 |
C |
T |
exonic |
synonymous SNV |
C18orf8:NM_001318707:exon7:c.C453T:p.P151P,C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_001318709:exon8:c.C780T:p.P260P,C18orf8:NM_001318708:exon9:c.C453T:p.P151P,C18orf8:NM_013326:exon10:c.C924T:p.P308P |
RS1367083 |
Fasting blood glucose:LDL
cholesterol:Height:Body mass index (BMI):Mitral annular calcium:Years of
education:College completion |
|
18 |
21120444 |
1 |
NPC1 |
T |
C |
exonic |
nonsynonymous SNV |
NPC1:NM_000271:exon17:c.A2572G:p.I858V |
RS1805082 |
Fasting blood glucose:Childhood
acute lymphoblastic leukemia:Gene expression of NPC1 in peripheral blood
monocytes:HDL cholesterol:LDL cholesterol:Height:Body mass index
(BMI):Diastolic blood pressure (DBP):Years of education:College
completion:Mitral annular calcium |
|
18 |
21124945 |
2 |
NPC1 |
C |
G |
exonic |
nonsynonymous SNV |
NPC1:NM_000271:exon12:c.G1926C:p.M642I |
RS1788799 |
HOMA-IR:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age
>2):College completion:Years of education |
|
18 |
21148863 |
1 |
NPC1 |
A |
G |
exonic |
synonymous SNV |
NPC1:NM_000271:exon4:c.T387C:p.Y129Y |
RS12970899 |
Lp-PLA2 activity:HDL
cholesterol:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's
disease:Gene expression of C18orf8///NPC1 in blood:Amyotrophic lateral
sclerosis (ALS) age of onset |
|
18 |
21511089 |
2 |
LAMA3 |
A |
G |
exonic |
nonsynonymous SNV |
LAMA3:NM_001127718:exon27:c.A3505G:p.S1169G,LAMA3:NM_000227:exon28:c.A3673G:p.S1225G,LAMA3:NM_001127717:exon64:c.A8332G:p.S2778G,LAMA3:NM_198129:exon65:c.A8500G:p.S2834G |
|
18 |
21710321 |
2 |
TTC39C |
C |
T |
exonic |
synonymous SNV |
TTC39C:NM_001292030:exon7:c.C642T:p.N214N,TTC39C:NM_001135993:exon12:c.C1563T:p.N521N,TTC39C:NM_153211:exon12:c.C1380T:p.N460N |
|
18 |
22020543 |
2 |
IMPACT |
C |
G |
exonic |
nonsynonymous SNV |
IMPACT:NM_018439:exon6:c.C451G:p.L151V |
RS677688 |
Cystatin C in
serum:Salmonella-induced pyroptosis |
|
18 |
25563015 |
1 |
CDH2 |
G |
C |
exonic |
nonsynonymous SNV |
CDH2:NM_001308176:exon13:c.C2149G:p.R717G,CDH2:NM_001792:exon14:c.C2242G:p.R748G |
|
18 |
25565082 |
2 |
CDH2 |
A |
G |
exonic |
synonymous SNV |
CDH2:NM_001308176:exon12:c.T1998C:p.R666R,CDH2:NM_001792:exon13:c.T2091C:p.R697R |
RS1220144 |
Salmonella-induced pyroptosis |
|
18 |
25570228 |
2 |
CDH2 |
G |
C |
exonic |
synonymous SNV |
CDH2:NM_001308176:exon9:c.C1338G:p.P446P,CDH2:NM_001792:exon10:c.C1431G:p.P477P |
|
18 |
28649042 |
1 |
DSC2 |
T |
C |
exonic |
nonsynonymous SNV |
DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V |
RS1893963 |
Schizophrenia:AraC toxicity as
measured by AraC IC50 in lymphoblastoid cell lines:Triglycerides change with
statins:Rheumatoid arthritis:Age at death with kuru exposure:Advanced
age-related macular degeneration (geographic atrophy):Coronary artery disease
(CAD):Birth weight:Tetrology of fallot |
|
18 |
28673565 |
1 |
DSC2 |
T |
C |
exonic |
synonymous SNV |
DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L |
|
18 |
29104698 |
1 |
DSG2 |
C |
T |
exonic |
synonymous SNV |
DSG2:NM_001943:exon8:c.C861T:p.N287N |
RS2230233 |
HDL cholesterol:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
18 |
29126592 |
1 |
DSG2 |
C |
T |
exonic |
synonymous SNV |
DSG2:NM_001943:exon15:c.C3243T:p.V1081V |
|
18 |
29126670 |
1 |
DSG2 |
T |
C |
exonic |
synonymous SNV |
DSG2:NM_001943:exon15:c.T3321C:p.V1107V |
RS1791235 |
HDL cholesterol:Asthma:Comorbid
depressive syndrome and alcohol dependence:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG:Salmonella-induced
pyroptosis:Refractive error |
|
18 |
29497573 |
2 |
TRAPPC8 |
A |
G |
exonic |
nonsynonymous SNV |
TRAPPC8:NM_014939:exon3:c.T410C:p.L137S |
|
18 |
30349691 |
1 |
KLHL14 |
C |
T |
exonic |
synonymous SNV |
KLHL14:NM_020805:exon2:c.G864A:p.P288P |
|
18 |
32470291 |
2 |
DTNA |
G |
A |
exonic |
nonsynonymous SNV |
DTNA:NM_001198938:exon20:c.G2062A:p.E688K |
|
18 |
32917644 |
1 |
ZNF24 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF24:NM_006965:exon4:c.A659G:p.N220S |
RS2032729 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Total cholesterol:Gene expression of
MAPRE2 in blood:Sporadic Creutzfeldt-Jakob disease:Advanced age-related
macular degeneration (geographic atrophy) |
|
18 |
32920361 |
1 |
ZNF24 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF24:NM_001308123:exon2:c.C254T:p.T85M,ZNF24:NM_006965:exon2:c.C254T:p.T85M |
|
18 |
33647254 |
2 |
RPRD1A |
A |
C |
exonic |
synonymous SNV |
RPRD1A:NM_001303413:exon1:c.T114G:p.R38R,RPRD1A:NM_018170:exon1:c.T114G:p.R38R |
|
18 |
33694120 |
2 |
SLC39A6 |
G |
A |
exonic |
synonymous SNV |
SLC39A6:NM_001099406:exon6:c.C958T:p.L320L,SLC39A6:NM_012319:exon7:c.C1783T:p.L595L |
RS1050631 |
Cystatin C in serum:Rheumatoid
arthritis:Gene expression of PHF6 in peripheral blood monocytes:Gene
expression of ELP2 in peripheral blood monocytes:Comorbid depressive syndrome
and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Survival
after esophageal squamous-cell carcinoma (Esophageal cancer):Gene expression
of SLC39A6 (ENSG00000141424) in dendritic cells:Refractive error:Gene
expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's
disease cases and controls:Paternal transmission distortion:Gene expression
of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of SLC39A6 (ENSG00000141424) in dendritic cells
treated with Mycobacterium tuberculosis:Transmission distortion |
|
18 |
33706614 |
2 |
SLC39A6 |
C |
G |
exonic |
nonsynonymous SNV |
SLC39A6:NM_012319:exon2:c.G357C:p.E119D |
|
18 |
33718326 |
2 |
ELP2 |
A |
C |
exonic |
nonsynonymous SNV |
ELP2:NM_001242875:exon4:c.A382C:p.T128P,ELP2:NM_001242876:exon4:c.A382C:p.T128P,ELP2:NM_001242877:exon4:c.A382C:p.T128P,ELP2:NM_001242878:exon4:c.A382C:p.T128P,ELP2:NM_001242879:exon4:c.A382C:p.T128P,ELP2:NM_001324465:exon4:c.A382C:p.T128P,ELP2:NM_001324466:exon4:c.A382C:p.T128P,ELP2:NM_001324467:exon4:c.A382C:p.T128P,ELP2:NM_018255:exon4:c.A382C:p.T128P |
RS1785934 |
Cystatin C in serum:Adiponectin
levels:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID
ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls |
|
18 |
33725931 |
2 |
ELP2 |
G |
A |
exonic |
nonsynonymous SNV |
ELP2:NM_001242879:exon7:c.G703A:p.V235M,ELP2:NM_001242877:exon9:c.G835A:p.V279M,ELP2:NM_001242878:exon9:c.G835A:p.V279M,ELP2:NM_001324468:exon9:c.G466A:p.V156M,ELP2:NM_001242876:exon10:c.G1030A:p.V344M,ELP2:NM_001324465:exon10:c.G913A:p.V305M,ELP2:NM_001324466:exon10:c.G1030A:p.V344M,ELP2:NM_001324467:exon10:c.G913A:p.V305M,ELP2:NM_018255:exon10:c.G913A:p.V305M,ELP2:NM_001242875:exon11:c.G1108A:p.V370M |
RS1785928 |
Differential exon level expression
of ELP2 [probe 3784747] in brain cortex:Differential exon level expression of
ELP2 [probe 3784736] in peripheral blood mononuclear cells:Differential exon
level expression of ELP2 [probe 3784747] in peripheral blood mononuclear
cells:Cystatin C in serum:Gene expression of ELP2 in peripheral blood
monocytes:Gene expression of RPRD1A in blood:Gene expression of STATIP1 in
blood:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID
ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Progressive
Supranuclear Palsy cases:Adiponectin levels:Gene expression of ELP2 (probeID
ILMN_1709132) in cerebellum in Alzheimer's disease cases:Gene expression of
ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease
cases:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in
non-Alzheimer's disease samples:Gene expression of ELP2 (probeID
ILMN_1709132) in cerebellum in Progressive Supranuclear Palsy cases |
|
18 |
33750046 |
2 |
ELP2 |
C |
T |
exonic |
synonymous SNV |
ELP2:NM_001242879:exon17:c.C1887T:p.C629C,ELP2:NM_001242878:exon18:c.C1887T:p.C629C,ELP2:NM_001242876:exon19:c.C2082T:p.C694C,ELP2:NM_001242877:exon19:c.C2019T:p.C673C,ELP2:NM_001324465:exon19:c.C1965T:p.C655C,ELP2:NM_001324467:exon19:c.C1947T:p.C649C,ELP2:NM_001324468:exon19:c.C1650T:p.C550C,ELP2:NM_001324466:exon20:c.C2214T:p.C738C,ELP2:NM_018255:exon20:c.C2097T:p.C699C,ELP2:NM_001242875:exon21:c.C2292T:p.C764C |
RS8299 |
Triglycerides:Gene expression of
STATIP1 probe [GI_8922734-S] in brain cortex with no Alzheimer's
interaction:Gene expression of ELP2 in peripheral blood monocytes:Gene
expression of ZSWIM4 in peripheral blood monocytes:Bipolar disorder:Gene
expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ELP2 (probeID ILMN_1709132) in
cerebellum in Alzheimer's disease cases and controls:Maternal transmission
distortion:Adiponectin levels:Transmission distortion |
|
18 |
33779821 |
2 |
MOCOS |
C |
A |
exonic |
synonymous SNV |
MOCOS:NM_017947:exon4:c.C475A:p.R159R |
|
18 |
33779855 |
2 |
MOCOS |
C |
T |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon4:c.C509T:p.T170I |
RS623053 |
LDL cholesterol:Major depressive
disorder (narrow definition) (males):Major depressive disorder (narrow
definition):Partial epilepsy:Adiponectin levels |
|
18 |
33779896 |
2 |
MOCOS |
A |
G |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon4:c.A550G:p.S184G |
|
18 |
33780020 |
2 |
MOCOS |
A |
G |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon4:c.A674G:p.H225R |
|
18 |
33785093 |
2 |
MOCOS |
G |
A |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon6:c.G1072A:p.V358M |
RS678560 |
LDL cholesterol:Major depressive
disorder (narrow definition) (males):Major depressive disorder (narrow
definition):Adiponectin levels:Mitral annular calcium |
|
18 |
33785185 |
2 |
MOCOS |
A |
G |
exonic |
synonymous SNV |
MOCOS:NM_017947:exon6:c.A1164G:p.P388P |
|
18 |
33831189 |
1 |
MOCOS |
C |
A |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon11:c.C2107A:p.H703N |
RS594445 |
HDL cholesterol:Alzheimer's
disease:Fasting blood glucose:HDL cholesterol change with statins:Waist hip
ratio:Comorbid depressive syndrome and alcohol dependence:Sporadic
Creutzfeldt-Jakob disease:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Parkinson's disease |
|
18 |
33848581 |
1 |
MOCOS |
T |
C |
exonic |
nonsynonymous SNV |
MOCOS:NM_017947:exon15:c.T2600C:p.V867A |
RS1057251 |
Simpson-Angus Scale:Advanced
age-related macular degeneration (geographic atrophy):Hypertension (early
onset hypertension):Mitral annular calcium |
|
18 |
43481075 |
1 |
EPG5 |
G |
A |
exonic |
nonsynonymous SNV |
EPG5:NM_020964:exon26:c.C4532T:p.A1511V |
RS1893523 |
Eye color:Gene expression of
SIGLEC15 [probe 3786920] in brain cortex:Body mass index (BMI):Neuroblastoma
(brain cancer):Gene expression of ATP5A1 in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:Primary rhegmatogenous
retinal detachment:Acute lung injury following major trauma:Adiponectin
levels |
|
18 |
44407993 |
1 |
PIAS2 |
G |
A |
exonic |
synonymous SNV |
PIAS2:NM_001324058:exon11:c.C1437T:p.D479D,PIAS2:NM_004671:exon11:c.C1437T:p.D479D,PIAS2:NM_173206:exon11:c.C1437T:p.D479D,PIAS2:NM_001324047:exon12:c.C1410T:p.D470D,PIAS2:NM_001324051:exon12:c.C1410T:p.D470D,PIAS2:NM_001324054:exon12:c.C1410T:p.D470D,PIAS2:NM_001324046:exon13:c.C1410T:p.D470D,PIAS2:NM_001324048:exon13:c.C1410T:p.D470D,PIAS2:NM_001324055:exon13:c.C1410T:p.D470D,PIAS2:NM_001324059:exon13:c.C1410T:p.D470D,PIAS2:NM_001324049:exon14:c.C1410T:p.D470D,PIAS2:NM_001324052:exon14:c.C1410T:p.D470D,PIAS2:NM_001324053:exon14:c.C1410T:p.D470D,PIAS2:NM_001324057:exon14:c.C1410T:p.D470D |
|
18 |
46284587 |
1 |
CTIF |
T |
C |
exonic |
synonymous SNV |
CTIF:NM_014772:exon8:c.T882C:p.L294L,CTIF:NM_001142397:exon9:c.T882C:p.L294L |
|
18 |
47429022 |
1 |
MYO5B |
C |
T |
exonic |
nonsynonymous SNV |
MYO5B:NM_001080467:exon21:c.G2753A:p.R918H |
RS2298624 |
HDL cholesterol:Childhood acute
lymphoblastic leukemia:Gene expression of hCG_2 [probe 200038_s_at] in
prefrontal cortex:Lp-PLA2 activity:Total cholesterol:HDL cholesterol:Acute
lung injury following major trauma |
|
18 |
47455923 |
1 |
MYO5B |
C |
T |
exonic |
synonymous SNV |
MYO5B:NM_001080467:exon17:c.G2049A:p.V683V |
RS2298628 |
HDL cholesterol:Mean telomere
length:HDL cholesterol:Systolic blood pressure (SBP) |
|
18 |
47563299 |
2 |
MYO5B |
T |
C |
exonic |
nonsynonymous SNV |
MYO5B:NM_001080467:exon4:c.A376G:p.T126A |
|
18 |
47800179 |
1 |
MBD1 |
G |
C |
exonic |
nonsynonymous SNV |
MBD1:NM_001323954:exon10:c.C964G:p.P322A,MBD1:NM_001204141:exon11:c.C1051G:p.P351A,MBD1:NM_001204143:exon11:c.C1033G:p.P345A,MBD1:NM_001204151:exon11:c.C1132G:p.P378A,MBD1:NM_001323952:exon11:c.C958G:p.P320A,MBD1:NM_001323953:exon11:c.C625G:p.P209A,MBD1:NM_002384:exon11:c.C1033G:p.P345A,MBD1:NM_015844:exon11:c.C1033G:p.P345A,MBD1:NM_015845:exon11:c.C1132G:p.P378A,MBD1:NM_015847:exon11:c.C1054G:p.P352A,MBD1:NM_001204136:exon12:c.C1201G:p.P401A,MBD1:NM_001204139:exon12:c.C1201G:p.P401A,MBD1:NM_001204140:exon12:c.C1108G:p.P370A,MBD1:NM_001204142:exon12:c.C1201G:p.P401A,MBD1:NM_001323950:exon12:c.C1198G:p.P400A,MBD1:NM_001323951:exon12:c.C1201G:p.P401A,MBD1:NM_015846:exon12:c.C1201G:p.P401A,MBD1:NM_001204137:exon13:c.C1276G:p.P426A,MBD1:NM_001204138:exon13:c.C1273G:p.P425A,MBD1:NM_001323942:exon13:c.C1276G:p.P426A,MBD1:NM_001323947:exon13:c.C1276G:p.P426A,MBD1:NM_001323949:exon13:c.C769G:p.P257A |
RS125555 |
Microalbuminuria:PROP taste
detection threshold:Gene expression change of MBD1 (ENSG00000141644) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of MBD1 in normal prepouch ileum |
|
18 |
47810351 |
1 |
CXXC1 |
A |
G |
exonic |
synonymous SNV |
CXXC1:NM_001101654:exon10:c.T1338C:p.T446T,CXXC1:NM_014593:exon10:c.T1326C:p.T442T |
RS7228084 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
18 |
48723217 |
2 |
MEX3C |
C |
T |
exonic |
synonymous SNV |
MEX3C:NM_016626:exon1:c.G474A:p.P158P |
|
18 |
51820805 |
1 |
POLI |
G |
A |
exonic |
nonsynonymous SNV |
POLI:NM_001351616:exon8:c.G1828A:p.A610T,POLI:NM_001351610:exon9:c.G2065A:p.A689T,POLI:NM_001351613:exon9:c.G1954A:p.A652T,POLI:NM_001351614:exon9:c.G1882A:p.A628T,POLI:NM_001351615:exon9:c.G1882A:p.A628T,POLI:NM_001351617:exon9:c.G1648A:p.A550T,POLI:NM_001351620:exon9:c.G1411A:p.A471T,POLI:NM_001351611:exon10:c.G1987A:p.A663T,POLI:NM_001351612:exon10:c.G1987A:p.A663T,POLI:NM_001351618:exon10:c.G1648A:p.A550T,POLI:NM_001351619:exon10:c.G1648A:p.A550T,POLI:NM_001351632:exon10:c.G2116A:p.A706T,POLI:NM_007195:exon10:c.G2191A:p.A731T |
RS8305 |
Differential exon level expression
of POLI [probe 3788863] in brain cortex:LDL cholesterol change with
statins:Partial epilepsy:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Late onset Alzheimer's disease:Gene expression of POLI [probeset
219317_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Refractive error |
|
18 |
55317676 |
2 |
ATP8B1 |
C |
T |
exonic |
nonsynonymous SNV |
ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T |
|
18 |
56149099 |
2 |
ALPK2 |
T |
C |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon13:c.A6469G:p.I2157V |
RS7240666 |
Alcohol dependence:Cystatin C in
serum:HDL cholesterol:Coronary artery disease (CAD) |
|
18 |
56202418 |
2 |
ALPK2 |
T |
C |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.A5001G:p.K1667K |
|
18 |
56202768 |
1 |
ALPK2 |
C |
A |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.G4651T:p.A1551S |
RS3809983 |
Celiac disease:Celiac
disease:Barnes Akathisia Rating Scale:Celiac disease:LDL cholesterol change
with statins:Height:Comorbid depressive syndrome and alcohol dependence |
|
18 |
56202982 |
2 |
ALPK2 |
A |
T |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.T4437A:p.A1479A |
|
18 |
56203411 |
2 |
ALPK2 |
G |
C |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.C4008G:p.P1336P |
RS3809980 |
Waist hip ratio:Diastolic blood
pressure (DBP) |
|
18 |
56203447 |
2 |
ALPK2 |
A |
G |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.T3972C:p.H1324H |
|
18 |
56203891 |
2 |
ALPK2 |
G |
T |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.C3528A:p.P1176P |
|
18 |
56203898 |
2 |
ALPK2 |
T |
G |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.A3521C:p.H1174P |
RS3809977 |
Celiac disease:Waist hip
ratio:Diastolic blood pressure (DBP):Resistance to kuru in aged women despite
likely exposure |
|
18 |
56204250 |
2 |
ALPK2 |
A |
C |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.T3169G:p.L1057V |
RS3809976 |
Barnes Akathisia Rating Scale:Waist
hip ratio:Diastolic blood pressure (DBP):Resistance to kuru in aged women
despite likely exposure |
|
18 |
56204644 |
1 |
ALPK2 |
T |
G |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.A2775C:p.V925V |
RS12963422 |
Rheumatoid arthritis:Comorbid
depressive syndrome and alcohol dependence:College completion |
|
18 |
56204671 |
1 |
ALPK2 |
A |
T |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.T2748A:p.N916K |
RS4940404 |
Height |
|
18 |
56204747 |
2 |
ALPK2 |
G |
A |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.C2672T:p.T891I |
RS3826593 |
HDL cholesterol:Height:Variant
Creutzfeldt-Jakob disease:Resistance to kuru in aged women despite likely
exposure:Infant head circumference |
|
18 |
56204932 |
1 |
ALPK2 |
T |
G |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.A2487C:p.K829N |
RS3809973 |
Crohn's disease:Celiac
disease:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Celiac
disease:Height:Comorbid depressive syndrome and alcohol dependence:Age at
death with kuru exposure |
|
18 |
56204945 |
1 |
ALPK2 |
C |
G |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.G2474C:p.R825T |
RS3809972 |
Barnes Akathisia Rating Scale:Height |
|
18 |
56204977 |
1 |
ALPK2 |
C |
T |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.G2442A:p.T814T |
RS3809971 |
Height:Comorbid depressive syndrome
and alcohol dependence |
|
18 |
56204991 |
1 |
ALPK2 |
C |
T |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.G2428A:p.G810S |
RS3809970 |
Celiac disease:Irritible bowel
syndrome:Barnes Akathisia Rating Scale:Celiac disease:Height:Comorbid
depressive syndrome and alcohol dependence:Age at death with kuru exposure |
|
18 |
56205262 |
1 |
ALPK2 |
A |
C |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.T2157G:p.H719Q |
RS12103986 |
Celiac disease:Celiac
disease:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Celiac
disease:Height:Comorbid depressive syndrome and alcohol dependence:Age at
death with kuru exposure:Gene expression of ALPK2 (ENSG00000198796) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression
change of ALPK2 (ENSG00000198796) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
18 |
59814268 |
2 |
PIGN |
G |
A |
exonic |
synonymous SNV |
PIGN:NM_012327:exon8:c.C741T:p.H247H,PIGN:NM_176787:exon9:c.C741T:p.H247H |
|
18 |
60191428 |
1 |
ZCCHC2 |
G |
A |
exonic |
synonymous SNV |
ZCCHC2:NM_017742:exon1:c.G771A:p.E257E |
RS7229802 |
College completion:Years of
education |
|
18 |
60237388 |
2 |
ZCCHC2 |
A |
G |
exonic |
synonymous SNV |
ZCCHC2:NM_017742:exon12:c.A1899G:p.S633S |
RS8096750 |
LDL cholesterol:Triglycerides:LDL
cholesterol:Total cholesterol:Late onset Alzheimer's disease |
|
18 |
60242740 |
1 |
ZCCHC2 |
T |
C |
exonic |
synonymous SNV |
ZCCHC2:NM_017742:exon13:c.T3426C:p.Y1142Y |
|
18 |
61650865 |
2 |
SERPINB8 |
G |
A |
exonic |
synonymous SNV |
SERPINB8:NM_001031848:exon5:c.G477A:p.L159L,SERPINB8:NM_001348367:exon5:c.G477A:p.L159L,SERPINB8:NM_001348368:exon5:c.G477A:p.L159L,SERPINB8:NM_001348369:exon5:c.G477A:p.L159L,SERPINB8:NM_002640:exon5:c.G477A:p.L159L,SERPINB8:NM_198833:exon5:c.G477A:p.L159L |
|
18 |
61654463 |
1 |
SERPINB8 |
A |
G |
exonic |
nonsynonymous SNV |
SERPINB8:NM_001348370:exon5:c.A536G:p.H179R,SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R,SERPINB8:NM_198833:exon7:c.A1076G:p.H359R |
RS3826616 |
Triglycerides:Gene expression of
SERPINB8 in normal prepouch ileum |
|
18 |
67992684 |
1 |
SOCS6 |
C |
T |
exonic |
synonymous SNV |
SOCS6:NM_004232:exon2:c.C780T:p.R260R |
RS1047657 |
Fasting blood glucose:HDL
cholesterol change with statins:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Mitral annular calcium |
|
18 |
72914280 |
1 |
ZADH2 |
G |
A |
exonic |
synonymous SNV |
ZADH2:NM_175907:exon2:c.C225T:p.N75N |
RS7230037 |
Gene expression of ZADH2 in
liver:Differential exon level expression of ZADH2 [probe 3813623] in
peripheral blood mononuclear cells:Gene expression of ZADH2 [probeset
227977_at] in sputum:Gene expression of ZADH2 [probeset 227049_at] in
sputum:Gene expression of ZADH2 [probeset 234977_at] in sputum:Gene
expression of ZADH2 [probeset 227978_s_at] in sputum:Gene expression of ZADH2
[probeset 237776_at] in sputum:Gene expression of ZADH2 in normal prepouch
ileum |
|
18 |
73000005 |
1 |
TSHZ1 |
G |
A |
exonic |
synonymous SNV |
TSHZ1:NM_001308210:exon2:c.G2643A:p.P881P,TSHZ1:NM_005786:exon2:c.G2508A:p.P836P |
|
18 |
77067000 |
2 |
ATP9B |
T |
G |
exonic |
synonymous SNV |
ATP9B:NM_001306085:exon15:c.T1539G:p.A513A,ATP9B:NM_198531:exon15:c.T1539G:p.A513A |
RS3760541 |
LDL cholesterol:Serum creatinine |
|
18 |
77440128 |
2 |
CTDP1 |
T |
G |
exonic |
nonsynonymous SNV |
CTDP1:NM_001318511:exon1:c.T181G:p.S61A,CTDP1:NM_004715:exon1:c.T181G:p.S61A,CTDP1:NM_048368:exon1:c.T181G:p.S61A |
|
18 |
77475455 |
1 |
CTDP1 |
G |
A |
exonic |
synonymous SNV |
CTDP1:NM_001202504:exon8:c.G1638A:p.A546A,CTDP1:NM_001318511:exon8:c.G1995A:p.A665A,CTDP1:NM_004715:exon8:c.G1995A:p.A665A,CTDP1:NM_048368:exon8:c.G1995A:p.A665A |
|
18 |
77513721 |
2 |
CTDP1 |
T |
C |
exonic |
synonymous SNV |
CTDP1:NM_001202504:exon13:c.T2460C:p.D820D,CTDP1:NM_004715:exon13:c.T2817C:p.D939D |
|
18 |
77728135 |
2 |
HSBP1L1 |
G |
T |
exonic |
nonsynonymous SNV |
HSBP1L1:NM_001136180:exon3:c.G165T:p.K55N |
RS2298645 |
Triglycerides:Total
cholesterol:Serum creatinine:Total cholesterol:College completion:Years of
education |
|
18 |
77805949 |
1 |
RBFA |
A |
C |
exonic |
nonsynonymous SNV |
RBFA:NM_024805:exon7:c.A826C:p.K276Q |
RS3744873 |
Urinary albumin-to-creatinine
ratio:Adiponectin levels |
|
18 |
77894844 |
1 |
ADNP2 |
G |
A |
exonic |
synonymous SNV |
ADNP2:NM_014913:exon4:c.G1548A:p.P516P |
RS3744877 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
19 |
418948 |
1 |
SHC2 |
C |
T |
exonic |
nonsynonymous SNV |
SHC2:NM_012435:exon12:c.G1729A:p.V577M |
|
19 |
532066 |
1 |
CDC34 |
C |
T |
exonic |
synonymous SNV |
CDC34:NM_004359:exon1:c.C135T:p.I45I |
|
19 |
580665 |
1 |
BSG |
T |
C |
exonic |
synonymous SNV |
BSG:NM_198591:exon3:c.T135C:p.A45A,BSG:NM_001322243:exon4:c.T327C:p.A109A,BSG:NM_198589:exon4:c.T327C:p.A109A,BSG:NM_198590:exon4:c.T48C:p.A16A,BSG:NM_001728:exon5:c.T675C:p.A225A |
|
19 |
619021 |
1 |
POLRMT |
G |
C |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon15:c.C3243G:p.P1081P |
|
19 |
621148 |
1 |
POLRMT |
C |
T |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon10:c.G2550A:p.G850G |
|
19 |
621712 |
1 |
POLRMT |
A |
G |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon10:c.T1986C:p.A662A |
|
19 |
622336 |
1 |
POLRMT |
T |
G |
exonic |
nonsynonymous SNV |
POLRMT:NM_005035:exon9:c.A1664C:p.E555A |
|
19 |
625198 |
1 |
POLRMT |
A |
G |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon4:c.T879C:p.T293T |
|
19 |
632915 |
1 |
POLRMT |
G |
A |
exonic |
nonsynonymous SNV |
POLRMT:NM_005035:exon2:c.C112T:p.P38S |
|
19 |
731144 |
1 |
PALM |
A |
G |
exonic |
nonsynonymous SNV |
PALM:NM_001040134:exon5:c.A319G:p.T107A,PALM:NM_002579:exon5:c.A319G:p.T107A |
RS1050457 |
Cystatin C in serum:Rheumatoid
arthritis:LDL cholesterol:Age at menarche |
|
19 |
868115 |
2 |
MED16 |
C |
T |
exonic |
nonsynonymous SNV |
MED16:NM_005481:exon16:c.G2620A:p.E874K |
RS13090 |
HDL cholesterol:Gene expression of
CFD in blood cells in Celiac disease:2 hour glucose:LDL cholesterol:Total
cholesterol:Partial epilepsy:Gene expression of MED16 in CD4+
lymphocytes:Gene expression of CFD in CD4+ lymphocytes:Gene expression of
KISS1R in CD4+ lymphocytes:Age at menarche:Gene expression of CFD in
blood:Gene expression of C19orf22 in blood:Gene expression of MED16 in
blood:Gene expression of KISS1R in blood:Gene expression of ELA2 in
blood:Gene expression of CFD [probeset 205382_s_at] in sputum:Gene expression
of CFD (probeID ILMN_1777190) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of CFD (probeID ILMN_1777190) in temporal cortex in
Alzheimer's disease cases and controls |
|
19 |
871135 |
2 |
MED16 |
A |
G |
exonic |
synonymous SNV |
MED16:NM_005481:exon13:c.T2217C:p.V739V |
RS1683569 |
2 hour glucose:LDL
cholesterol:Total cholesterol:Gene expression of CFD (probeID ILMN_1777190)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
CFD (probeID ILMN_1777190) in temporal cortex in Alzheimer's disease cases
and controls |
|
19 |
871987 |
1 |
MED16 |
G |
A |
exonic |
synonymous SNV |
MED16:NM_005481:exon12:c.C2037T:p.T679T |
|
19 |
872089 |
1 |
MED16 |
A |
G |
exonic |
synonymous SNV |
MED16:NM_005481:exon12:c.T1935C:p.F645F |
|
19 |
875389 |
2 |
MED16 |
G |
A |
exonic |
synonymous SNV |
MED16:NM_005481:exon10:c.C1626T:p.T542T |
|
19 |
885818 |
2 |
MED16 |
A |
G |
exonic |
synonymous SNV |
MED16:NM_005481:exon5:c.T831C:p.F277F |
RS1060442 |
Rheumatoid arthritis:Gene
expression of THRAP5 in peripheral blood monocytes:Gene expression of CFD in
peripheral blood monocytes:Partial epilepsy:Microalbuminuria:Gene expression
of C19orf22 [transcript NM_138774, probe A_23_P315286] in liver:Gene expression
of RNF126 [transcript NM_194460, probe A_23_P314086] in liver:Gene expression
of WDR18 in blood:Gene expression of MED16 in blood:Gene expression of KISS1R
in blood:Gene expression of CFD in blood:Stroke |
|
19 |
890165 |
2 |
MED16 |
G |
A |
exonic |
synonymous SNV |
MED16:NM_005481:exon3:c.C249T:p.A83A |
|
19 |
917526 |
1 |
KISS1R |
A |
G |
exonic |
synonymous SNV |
KISS1R:NM_032551:exon1:c.A24G:p.G8G |
|
19 |
929753 |
1 |
ARID3A |
A |
G |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon2:c.A225G:p.P75P |
|
19 |
965043 |
2 |
ARID3A |
T |
C |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon6:c.T1161C:p.N387N |
|
19 |
966693 |
2 |
ARID3A |
C |
T |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon7:c.C1320T:p.A440A |
RS6510986 |
LDL cholesterol change with
statins:Chronic kidney disease:Serum creatinine:LDL cholesterol:HDL
cholesterol:Total cholesterol:Triglycerides:Age at menarche:Adiponectin
levels |
|
19 |
971933 |
1 |
ARID3A |
A |
G |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon9:c.A1650G:p.G550G |
RS1051504 |
Gene expression of ARID3A [probe
205865_at] in lymphoblastoid cell lines:Adiponectin levels |
|
19 |
971949 |
2 |
ARID3A |
G |
A |
exonic |
nonsynonymous SNV |
ARID3A:NM_005224:exon9:c.G1666A:p.G556S |
|
19 |
984479 |
1 |
WDR18 |
C |
T |
exonic |
synonymous SNV |
WDR18:NM_024100:exon1:c.C126T:p.R42R |
|
19 |
984533 |
1 |
WDR18 |
T |
C |
exonic |
synonymous SNV |
WDR18:NM_024100:exon1:c.T180C:p.N60N |
RS2301810 |
Gene expression of WDR18 [probe
209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Triglycerides:LDL cholesterol:Mitral annular calcium |
|
19 |
984537 |
1 |
WDR18 |
A |
G |
exonic |
nonsynonymous SNV |
WDR18:NM_024100:exon1:c.A184G:p.I62V |
|
19 |
984554 |
1 |
WDR18 |
C |
G |
exonic |
synonymous SNV |
WDR18:NM_024100:exon1:c.C201G:p.L67L |
RS4806884 |
Gene expression of WDR18 [probe
209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Triglycerides:Mitral annular calcium |
|
19 |
990281 |
2 |
WDR18 |
G |
A |
exonic |
nonsynonymous SNV |
WDR18:NM_024100:exon4:c.G514A:p.A172T |
RS2158367 |
LDL cholesterol:Total
cholesterol:Cystatin C in serum:Triglycerides:Age at menarche |
|
19 |
991129 |
1 |
WDR18 |
G |
A |
exonic |
nonsynonymous SNV |
WDR18:NM_024100:exon6:c.G790A:p.V264I |
|
19 |
1010396 |
1 |
TMEM259 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM259:NM_001033026:exon11:c.C1816G:p.P606A |
|
19 |
1010691 |
1 |
TMEM259 |
A |
G |
exonic |
synonymous SNV |
TMEM259:NM_001033026:exon11:c.T1521C:p.P507P |
|
19 |
1014377 |
1 |
TMEM259 |
A |
G |
exonic |
synonymous SNV |
TMEM259:NM_001033026:exon2:c.T321C:p.R107R,TMEM259:NM_033420:exon2:c.T321C:p.R107R |
RS1058506 |
Microalbuminuria:Gene expression of
WDR18 (probeID ILMN_1694479) in breast tumors |
|
19 |
1014398 |
1 |
TMEM259 |
A |
G |
exonic |
synonymous SNV |
TMEM259:NM_001033026:exon2:c.T300C:p.H100H,TMEM259:NM_033420:exon2:c.T300C:p.H100H |
RS7146 |
Eye color:Irritible bowel
syndrome:LDL cholesterol:Differential exon level expression of C19orf6 [probe
3844924] in brain cortex:Gene expression of WDR18 [probe 3815328] in
peripheral blood mononuclear cells:Gene expression of WDR18 in blood:Gene
expression of CNN2 in blood:Gene expression of ABCA7 in blood:Gene expression
of GRIN3B///C19orf6 in blood:Gene expression of C19orf6 (probeID
ILMN_2326282) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of C19orf6 (probeID ILMN_2326282) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C19orf6 (probeID ILMN_2326282)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of C19orf6 (probeID ILMN_2326282) in temporal cortex in Progressive Supranuclear
Palsy cases:Gene expression of C19orf6 (probeID ILMN_2326282) in temporal
cortex in Alzheimer's disease cases:Gene expression of C19orf6 (probeID
ILMN_2326282) in cerebellum in non-Alzheimer's disease samples:Gene
expression of C19orf6 (probeID ILMN_2326282) in cerebellum in Alzheimer's
disease cases |
|
19 |
1036552 |
1 |
CNN2 |
T |
C |
exonic |
synonymous SNV |
CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_001303499:exon6:c.T612C:p.C204C,CNN2:NM_001303501:exon6:c.T708C:p.C236C,CNN2:NM_004368:exon6:c.T645C:p.C215C |
RS2304262 |
Aortic valve calcium |
|
19 |
1052005 |
1 |
ABCA7 |
C |
T |
exonic |
synonymous SNV |
ABCA7:NM_019112:exon22:c.C3027T:p.A1009A |
RS3764652 |
Serum creatinine:Triglycerides:HDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Lung
function, forced expiratory volume in 1 second (FEV1) percent predicted (in
asthmatic participants) |
|
19 |
1054060 |
1 |
ABCA7 |
A |
G |
exonic |
synonymous SNV |
ABCA7:NM_019112:exon26:c.A3528G:p.L1176L |
RS3752243 |
Childhood acute lymphoblastic
leukemia:Serum creatinine:Triglycerides:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Lung function,
forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic
participants) |
|
19 |
1055191 |
1 |
ABCA7 |
G |
A |
exonic |
nonsynonymous SNV |
ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q |
|
19 |
1064193 |
1 |
ABCA7 |
G |
A |
exonic |
synonymous SNV |
ABCA7:NM_019112:exon45:c.G5985A:p.L1995L |
RS4147930 |
Asthma |
|
19 |
1065018 |
1 |
ABCA7 |
G |
T |
exonic |
nonsynonymous SNV |
ABCA7:NM_019112:exon46:c.G6133T:p.A2045S |
|
19 |
1077985 |
1 |
ARHGAP45 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGAP45:NM_001282334:exon1:c.A220G:p.S74G,ARHGAP45:NM_001282335:exon10:c.A964G:p.S322G,ARHGAP45:NM_001258328:exon11:c.A1363G:p.S455G,ARHGAP45:NM_001321232:exon11:c.A1327G:p.S443G,ARHGAP45:NM_012292:exon11:c.A1315G:p.S439G |
|
19 |
1080311 |
1 |
ARHGAP45 |
G |
C |
exonic |
synonymous SNV |
ARHGAP45:NM_001282334:exon4:c.G666C:p.P222P,ARHGAP45:NM_001282335:exon13:c.G1410C:p.P470P,ARHGAP45:NM_001258328:exon14:c.G1809C:p.P603P,ARHGAP45:NM_001321232:exon14:c.G1773C:p.P591P,ARHGAP45:NM_012292:exon14:c.G1761C:p.P587P |
RS2074454 |
Refractive error:Gene expression of
ABCA7 (probeID ILMN_1743205) in cerebellum in Alzheimer's disease cases and
controls |
|
19 |
1081617 |
1 |
ARHGAP45 |
A |
G |
exonic |
synonymous SNV |
ARHGAP45:NM_001282334:exon8:c.A1164G:p.Q388Q,ARHGAP45:NM_001282335:exon17:c.A1908G:p.Q636Q,ARHGAP45:NM_001258328:exon18:c.A2307G:p.Q769Q,ARHGAP45:NM_001321232:exon18:c.A2271G:p.Q757Q,ARHGAP45:NM_012292:exon18:c.A2259G:p.Q753Q |
RS10404947 |
Body mass index (BMI):Gene
expression of ABCA7 (probeID ILMN_1743205) in cerebellum in Alzheimer's
disease cases and controls:Refractive error |
|
19 |
1094004 |
2 |
POLR2E |
G |
A |
exonic |
nonsynonymous SNV |
POLR2E:NM_002695:exon2:c.C131T:p.S44F |
|
19 |
1104874 |
1 |
GPX4 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
19 |
1106615 |
2 |
GPX4 |
T |
C |
exonic |
unknown |
UNKNOWN |
RS713041 |
HDL cholesterol:HDL
cholesterol:Height:College completion:Parkinson's disease:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
SBNO2 (ENSG00000064932) in dendritic cells |
|
19 |
1110829 |
1 |
SBNO2 |
G |
A |
exonic |
synonymous SNV |
SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N |
RS2302109 |
Irritible bowel
syndrome:Schizophrenia:HDL cholesterol:Gene expression of GPX4 in
blood:Advanced age-related macular degeneration (geographic atrophy):Primary
rhegmatogenous retinal detachment:Parkinson's disease |
|
19 |
1119963 |
1 |
SBNO2 |
A |
G |
exonic |
synonymous SNV |
SBNO2:NM_001100122:exon9:c.T1038C:p.A346A,SBNO2:NM_014963:exon12:c.T1209C:p.A403A |
RS2074921 |
HDL cholesterol:HDL
cholesterol:Height:Parkinson's disease:College completion |
|
19 |
1256998 |
2 |
MIDN |
C |
T |
exonic |
synonymous SNV |
MIDN:NM_177401:exon8:c.C1134T:p.D378D |
|
19 |
1272040 |
1 |
CIRBP |
T |
C |
exonic |
synonymous SNV |
CIRBP:NM_001280:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300815:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300829:exon6:c.T492C:p.Y164Y |
RS12488 |
Chronic kidney disease |
|
19 |
1277275 |
1 |
C19orf24 |
G |
C |
exonic |
synonymous SNV |
C19orf24:NM_017914:exon2:c.G375C:p.V125V |
RS757292 |
Urinary albumin-to-creatinine ratio |
|
19 |
1357082 |
2 |
MUM1 |
T |
C |
exonic |
synonymous SNV |
MUM1:NM_032853:exon3:c.T135C:p.S45S |
RS713042 |
Gene expression of CNN2 in CHB-JPT
lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid
cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell
lines:Gene expression of probe 230461_s_at in lymphoblastoid cell
lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no
arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid
arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal
prepouch ileum:Hypertension (early onset hypertension) |
|
19 |
1360575 |
2 |
MUM1 |
G |
A |
exonic |
nonsynonymous SNV |
MUM1:NM_032853:exon5:c.G658A:p.G220R |
RS3826942 |
HOMA-IR:Fasting insulin:Gene
expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of
MUM1 in CHB-JPT lymphoblastoid cell lines:Psoriasis and/or psoriatic
arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone
mineral density (BMD):Gene expression of MUM1 in blood:Gene expression of
MUM1 [probeset 223347_at] in sputum:Gene expression of MUM1 (probeID
ILMN_1764764) in cerebellum in Alzheimer's disease cases and controls:Years
of education:Hypertension (early onset hypertension):Gene expression of MUM1
(probeID ILMN_1764764) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MUM1 in normal prepouch ileum:Pulmonary arterial
hypertension (PAH) |
|
19 |
1360981 |
1 |
MUM1 |
C |
T |
exonic |
nonsynonymous SNV |
MUM1:NM_032853:exon5:c.C1064T:p.A355V |
|
19 |
1370741 |
1 |
MUM1 |
G |
A |
exonic |
synonymous SNV |
MUM1:NM_032853:exon12:c.G1653A:p.L551L |
|
19 |
1434842 |
1 |
DAZAP1 |
C |
T |
exonic |
synonymous SNV |
DAZAP1:NM_018959:exon12:c.C1155T:p.P385P |
|
19 |
1619333 |
1 |
TCF3 |
G |
A |
exonic |
synonymous SNV |
TCF3:NM_001136139:exon14:c.C1308T:p.G436G,TCF3:NM_003200:exon15:c.C1308T:p.G436G |
|
19 |
1619339 |
1 |
TCF3 |
T |
C |
exonic |
synonymous SNV |
TCF3:NM_001136139:exon14:c.A1302G:p.S434S,TCF3:NM_003200:exon15:c.A1302G:p.S434S |
|
19 |
2110746 |
1 |
AP3D1 |
G |
A |
exonic |
synonymous SNV |
AP3D1:NM_003938:exon25:c.C2949T:p.S983S,AP3D1:NM_001261826:exon27:c.C3135T:p.S1045S |
RS20567 |
HOMA-IR:Fasting
insulin:Height:Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene
expression of AP3D1 (ENSG00000065000) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of AP3D1 in normal prepouch ileum |
|
19 |
2116649 |
1 |
AP3D1 |
A |
G |
exonic |
synonymous SNV |
AP3D1:NM_001261826:exon17:c.T1956C:p.R652R,AP3D1:NM_003938:exon17:c.T1956C:p.R652R |
|
19 |
2226772 |
1 |
DOT1L |
G |
C |
exonic |
nonsynonymous SNV |
DOT1L:NM_032482:exon27:c.G4252C:p.V1418L |
RS2302061 |
Fasting blood glucose:Urinary
albumin-to-creatinine ratio:Systolic blood pressure (SBP):Gene expression of
SF3A2 (probeID ILMN_1754220) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of SF3A2 (probeID ILMN_1754220) in cerebellum in
Alzheimer's disease cases and controls |
|
19 |
2344022 |
1 |
SPPL2B |
G |
A |
exonic |
unknown |
UNKNOWN |
|
19 |
2353150 |
1 |
SPPL2B |
C |
A |
exonic |
unknown |
UNKNOWN |
|
19 |
2433890 |
1 |
LMNB2 |
A |
G |
exonic |
synonymous SNV |
LMNB2:NM_032737:exon8:c.T1416C:p.G472G |
RS11084940 |
HDL cholesterol:Gene expression of
TIMM13 in normal prepouch ileum |
|
19 |
2732986 |
1 |
SLC39A3 |
T |
C |
exonic |
synonymous SNV |
SLC39A3:NM_144564:exon3:c.A708G:p.V236V |
|
19 |
2733250 |
2 |
SLC39A3 |
C |
T |
exonic |
synonymous SNV |
SLC39A3:NM_144564:exon3:c.G444A:p.V148V |
|
19 |
2762585 |
1 |
SGTA |
A |
C |
exonic |
synonymous SNV |
SGTA:NM_003021:exon7:c.T555G:p.A185A |
RS2302491 |
HDL cholesterol:Rheumatoid
arthritis:Total cholesterol |
|
19 |
2767192 |
1 |
SGTA |
G |
T |
exonic |
synonymous SNV |
SGTA:NM_003021:exon4:c.C234A:p.P78P |
|
19 |
2834808 |
2 |
ZNF554 |
T |
C |
exonic |
synonymous SNV |
ZNF554:NM_001102651:exon5:c.T1575C:p.C525C |
RS8102063 |
Transmission distortion |
|
19 |
2853566 |
2 |
ZNF555 |
A |
G |
exonic |
synonymous SNV |
ZNF555:NM_001172775:exon4:c.A1500G:p.R500R,ZNF555:NM_152791:exon4:c.A1503G:p.R501R |
RS10412087 |
Methylation levels at
chr19:2818753-2818803 [hg18 coord, probe cg19636861] in Caudal
pons:Methylation levels at chr19:2818753-2818803 [hg18 coord, probe
cg19636861] in Temporal cortex:Gene expression change of SGTA
(ENSG00000104969) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
19 |
2934282 |
2 |
ZNF77 |
T |
C |
exonic |
synonymous SNV |
ZNF77:NM_021217:exon4:c.A843G:p.S281S |
RS3746073 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
2936623 |
2 |
ZNF77 |
C |
T |
exonic |
synonymous SNV |
ZNF77:NM_021217:exon3:c.G210A:p.E70E |
|
19 |
3062857 |
2 |
AES |
T |
C |
exonic |
synonymous SNV |
AES:NM_198969:exon1:c.A69G:p.L23L |
|
19 |
3119239 |
1 |
GNA11 |
C |
T |
exonic |
synonymous SNV |
GNA11:NM_002067:exon6:c.C771T:p.T257T |
RS4900 |
HDL
cholesterol:HOMA-B:HOMA-IR:Triglycerides |
|
19 |
3186085 |
2 |
NCLN |
G |
T |
exonic |
synonymous SNV |
NCLN:NM_001321463:exon1:c.G57T:p.P19P,NCLN:NM_020170:exon1:c.G57T:p.P19P |
RS11551095 |
Cystatin C in serum |
|
19 |
3624005 |
1 |
CACTIN |
G |
A |
exonic |
nonsynonymous SNV |
CACTIN:NM_001080543:exon2:c.C323T:p.S108L,CACTIN:NM_021231:exon2:c.C323T:p.S108L |
RS55862054 |
Prostate cancer |
|
19 |
3738649 |
2 |
TJP3 |
A |
C |
exonic |
synonymous SNV |
TJP3:NM_001267560:exon12:c.A1381C:p.R461R,TJP3:NM_001267561:exon12:c.A1408C:p.R470R |
|
19 |
3738971 |
2 |
TJP3 |
A |
G |
exonic |
synonymous SNV |
TJP3:NM_001267560:exon13:c.A1470G:p.P490P,TJP3:NM_001267561:exon13:c.A1497G:p.P499P |
|
19 |
3740658 |
2 |
TJP3 |
T |
G |
exonic |
synonymous SNV |
TJP3:NM_001267560:exon14:c.T1740G:p.L580L,TJP3:NM_001267561:exon14:c.T1767G:p.L589L |
RS10416362 |
Gene expression of APBA3
(ENSG00000011132) in dendritic cells |
|
19 |
3750622 |
1 |
TJP3 |
A |
C |
exonic |
synonymous SNV |
TJP3:NM_001267560:exon21:c.A2700C:p.V900V,TJP3:NM_001267561:exon21:c.A2727C:p.V909V |
RS1046271 |
LDL cholesterol:Total
cholesterol:Autism with high IQ:Total cholesterol:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
3752874 |
1 |
APBA3 |
A |
G |
exonic |
nonsynonymous SNV |
APBA3:NM_004886:exon7:c.T1126C:p.C376R |
RS8102086 |
Gene expression of TJP3 in
liver:Triglycerides:Schizophrenia:Celiac disease:Total cholesterol:Diastolic
blood pressure (DBP):Gene expression of MRPL54 [probeset 225797_at] in
sputum:Age at death with kuru exposure:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
3753874 |
1 |
APBA3 |
G |
A |
exonic |
synonymous SNV |
APBA3:NM_004886:exon6:c.C900T:p.I300I |
|
19 |
3977486 |
2 |
EEF2 |
A |
G |
exonic |
synonymous SNV |
EEF2:NM_001961:exon13:c.T2190C:p.Y730Y |
RS36527 |
2 hour glucose:HDL
cholesterol:Height:Body mass index (BMI) |
|
19 |
3979408 |
2 |
EEF2 |
A |
G |
exonic |
synonymous SNV |
EEF2:NM_001961:exon11:c.T1632C:p.H544H |
RS36526 |
2 hour glucose:HDL
cholesterol:Height:Body mass index (BMI) |
|
19 |
4028783 |
1 |
PIAS4 |
C |
T |
exonic |
synonymous SNV |
PIAS4:NM_015897:exon6:c.C738T:p.T246T |
RS2289863 |
Cystatin C in serum:Rheumatoid
arthritis:Partial epilepsy:HDL cholesterol:Body mass index (BMI):Gene
expression of PIAS4 in blood:Years of education |
|
19 |
4033462 |
2 |
PIAS4 |
T |
C |
exonic |
synonymous SNV |
PIAS4:NM_015897:exon9:c.T1026C:p.C342C |
|
19 |
4180836 |
2 |
SIRT6 |
C |
T |
exonic |
nonsynonymous SNV |
SIRT6:NM_001193285:exon2:c.G137A:p.S46N,SIRT6:NM_001321059:exon2:c.G137A:p.S46N,SIRT6:NM_001321060:exon2:c.G137A:p.S46N,SIRT6:NM_001321063:exon2:c.G137A:p.S46N,SIRT6:NM_016539:exon2:c.G137A:p.S46N |
RS352493 |
HDL cholesterol:Schizophrenia:PROP
taste detection threshold:Transmission distortion |
|
19 |
4352959 |
1 |
MPND |
A |
G |
exonic |
synonymous SNV |
MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_001300862:exon4:c.A597G:p.A199A,MPND:NM_032868:exon4:c.A597G:p.A199A |
|
19 |
4357555 |
2 |
MPND |
A |
G |
exonic |
synonymous SNV |
MPND:NM_001159846:exon8:c.A1059G:p.S353S,MPND:NM_001300862:exon10:c.A1209G:p.S403S,MPND:NM_032868:exon10:c.A1209G:p.S403S |
RS4807583 |
Parkinson's disease |
|
19 |
4362691 |
1 |
SH3GL1 |
G |
C |
exonic |
synonymous SNV |
SH3GL1:NM_001199943:exon7:c.C627G:p.P209P,SH3GL1:NM_001199944:exon8:c.C579G:p.P193P,SH3GL1:NM_003025:exon8:c.C771G:p.P257P |
|
19 |
4442999 |
1 |
CHAF1A |
T |
G |
exonic |
nonsynonymous SNV |
CHAF1A:NM_005483:exon15:c.T2848G:p.S950A |
|
19 |
4457650 |
1 |
UBXN6 |
C |
T |
exonic |
synonymous SNV |
UBXN6:NM_025241:exon1:c.G45A:p.K15K |
|
19 |
4510560 |
1 |
PLIN4 |
C |
T |
exonic |
nonsynonymous SNV |
PLIN4:NM_001080400:exon3:c.G3370A:p.A1124T |
RS7251858 |
Alzheimer's disease:LDL
cholesterol:Total cholesterol:Neuroblastoma (brain cancer):Hypertension
(early onset hypertension) |
|
19 |
4511955 |
1 |
PLIN4 |
T |
C |
exonic |
nonsynonymous SNV |
PLIN4:NM_001080400:exon3:c.A1975G:p.S659G |
RS7260518 |
Suicide attempts in bipolar disorder
(substance free) |
|
19 |
4538599 |
1 |
LRG1 |
G |
A |
exonic |
nonsynonymous SNV |
LRG1:NM_052972:exon2:c.C397T:p.P133S |
RS966384 |
Spine bone mineral density
(BMD):Gene expression of NM_032631 in liver:Arthritis including
non-Rheumatoid:PROP taste detection threshold:Salmonella-induced pyroptosis |
|
19 |
4558431 |
1 |
SEMA6B |
C |
G |
exonic |
synonymous SNV |
SEMA6B:NM_032108:exon2:c.G39C:p.L13L |
RS2304213 |
LDL cholesterol:Obesity with early
age of onset (age >2) |
|
19 |
4695534 |
1 |
DPP9 |
C |
A |
exonic |
nonsynonymous SNV |
DPP9:NM_139159:exon12:c.G1209T:p.Q403H |
|
19 |
4816719 |
2 |
TICAM1 |
G |
A |
exonic |
synonymous SNV |
TICAM1:NM_182919:exon2:c.C1671T:p.D557D |
RS2292151 |
HDL cholesterol:Fasting
insulin:HOMA-IR:HOMA-B:Height:PROP taste detection threshold:Gene expression
of DPP9 (ENSG00000142002) in dendritic cells |
|
19 |
4844790 |
1 |
PLIN3 |
G |
C |
exonic |
nonsynonymous SNV |
PLIN3:NM_001164189:exon7:c.C850G:p.Q284E,PLIN3:NM_001164194:exon7:c.C814G:p.Q272E,PLIN3:NM_005817:exon7:c.C850G:p.Q284E |
|
19 |
4847713 |
2 |
PLIN3 |
A |
G |
exonic |
nonsynonymous SNV |
PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A,PLIN3:NM_005817:exon6:c.T824C:p.V275A |
RS9973235 |
Birth weight:Gene expression of
FEM1A (ENSG00000141965) in dendritic cells treated with Mycobacterium
tuberculosis:Transmission distortion |
|
19 |
4847874 |
2 |
PLIN3 |
A |
G |
exonic |
synonymous SNV |
PLIN3:NM_001164189:exon6:c.T663C:p.F221F,PLIN3:NM_001164194:exon6:c.T627C:p.F209F,PLIN3:NM_005817:exon6:c.T663C:p.F221F |
RS9304915 |
Gene expression change of UHRF1
(ENSG00000034063) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
19 |
4852106 |
2 |
PLIN3 |
A |
G |
exonic |
synonymous SNV |
PLIN3:NM_001164189:exon5:c.T556C:p.L186L,PLIN3:NM_001164194:exon5:c.T520C:p.L174L,PLIN3:NM_005817:exon5:c.T556C:p.L186L |
RS2271058 |
PROP taste detection
threshold:Paternal transmission distortion:Transmission distortion:Birth
weight |
|
19 |
4852137 |
1 |
PLIN3 |
C |
T |
exonic |
synonymous SNV |
PLIN3:NM_001164189:exon5:c.G525A:p.S175S,PLIN3:NM_001164194:exon5:c.G489A:p.S163S,PLIN3:NM_005817:exon5:c.G525A:p.S175S |
RS1055919 |
Irritible bowel
syndrome:Differential exon level expression of M6PRBP1 [probe 3847016] in
peripheral blood mononuclear cells:Total cholesterol:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Adiponectin levels |
|
19 |
4859937 |
2 |
PLIN3 |
T |
C |
exonic |
nonsynonymous SNV |
PLIN3:NM_001164189:exon3:c.A166G:p.I56V,PLIN3:NM_001164194:exon3:c.A166G:p.I56V,PLIN3:NM_005817:exon3:c.A166G:p.I56V |
RS8289 |
Fasting insulin:HOMA-IR:Gene
expression of M6PRBP1 in blood:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Transmission
distortion:Salmonella-induced pyroptosis |
|
19 |
4910924 |
1 |
UHRF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
19 |
4929413 |
1 |
UHRF1 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
19 |
4945914 |
2 |
UHRF1 |
A |
C |
exonic |
unknown |
UNKNOWN |
|
19 |
4945917 |
2 |
UHRF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
19 |
4954454 |
1 |
UHRF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
19 |
5041178 |
1 |
KDM4B |
T |
C |
exonic |
synonymous SNV |
KDM4B:NM_015015:exon5:c.T348C:p.D116D |
RS2240678 |
Citrate:Tyrosine |
|
19 |
5135392 |
2 |
KDM4B |
A |
G |
exonic |
nonsynonymous SNV |
KDM4B:NM_015015:exon15:c.A2128G:p.K710E |
|
19 |
5210782 |
1 |
PTPRS |
G |
A |
exonic |
synonymous SNV |
PTPRS:NM_130853:exon25:c.C3928T:p.L1310L,PTPRS:NM_130855:exon26:c.C3940T:p.L1314L,PTPRS:NM_130854:exon29:c.C5155T:p.L1719L,PTPRS:NM_002850:exon34:c.C5269T:p.L1757L |
|
19 |
5212380 |
1 |
PTPRS |
C |
T |
exonic |
synonymous SNV |
PTPRS:NM_130853:exon22:c.G3396A:p.P1132P,PTPRS:NM_130855:exon23:c.G3408A:p.P1136P,PTPRS:NM_130854:exon26:c.G4623A:p.P1541P,PTPRS:NM_002850:exon31:c.G4737A:p.P1579P |
|
19 |
5214697 |
2 |
PTPRS |
A |
G |
exonic |
nonsynonymous SNV |
PTPRS:NM_130853:exon20:c.T3028C:p.C1010R,PTPRS:NM_130855:exon21:c.T3040C:p.C1014R,PTPRS:NM_130854:exon24:c.T4255C:p.C1419R,PTPRS:NM_002850:exon29:c.T4369C:p.C1457R |
|
19 |
5223018 |
1 |
PTPRS |
G |
A |
exonic |
nonsynonymous SNV |
PTPRS:NM_130854:exon14:c.C2719T:p.R907C,PTPRS:NM_002850:exon18:c.C2785T:p.R929C |
|
19 |
5604875 |
1 |
SAFB2 |
T |
C |
exonic |
nonsynonymous SNV |
SAFB2:NM_014649:exon10:c.A1369G:p.T457A |
|
19 |
5692068 |
1 |
LONP1 |
G |
A |
exonic |
nonsynonymous SNV |
LONP1:NM_001276480:exon18:c.C2267T:p.A756V,LONP1:NM_004793:exon18:c.C2855T:p.A952V,LONP1:NM_001276479:exon19:c.C2663T:p.A888V |
|
19 |
5696146 |
1 |
LONP1 |
G |
A |
exonic |
synonymous SNV |
LONP1:NM_001276480:exon13:c.C1344T:p.T448T,LONP1:NM_004793:exon13:c.C1932T:p.T644T,LONP1:NM_001276479:exon14:c.C1740T:p.T580T |
RS3745624 |
Stabilized warfarin
dose:Triglycerides:HOMA-B:Gene expression of RPL36///LONP1 in blood:Gene
expression of SAFB (ENSG00000160633) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of C19orf70 (ENSG00000174917) in
dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
5783614 |
1 |
PRR22 |
T |
A |
exonic |
nonsynonymous SNV |
PRR22:NM_001134316:exon3:c.A644T:p.Q215L |
|
19 |
5783634 |
1 |
PRR22 |
T |
C |
exonic |
synonymous SNV |
PRR22:NM_001134316:exon3:c.A624G:p.P208P |
RS2446210 |
Gene expression of LOC56931 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height |
|
19 |
5789565 |
1 |
DUS3L |
T |
C |
exonic |
nonsynonymous SNV |
DUS3L:NM_020175:exon3:c.A553G:p.R185G |
RS2436487 |
Gene expression of DUS3L [probe
224966_s_at] in lymphoblastoid cell lines:Differential exon level expression
of DUS3L [probe 3847446] in peripheral blood mononuclear cells:Gene
expression of DUS3L [probe ILMN_3805] in osteoblasts:Fasting blood glucose:Gene
expression of DUS3L in CD4+ lymphocytes:Height:Gene expression of DUS3L
[probe ILMN_3805] in osteoblasts treated with PGE2:Gene expression of DUS3L
in blood |
|
19 |
5832209 |
1 |
FUT6 |
G |
A |
exonic |
nonsynonymous SNV |
FUT6:NM_001040701:exon2:c.C370T:p.P124S,FUT6:NM_000150:exon3:c.C370T:p.P124S |
RS778805 |
Height:Glycan Peak 14:Desialylated
Glycan Peak 7:Desialylated Glycan Peak 9:Plasma carcinoembryonic antigen
(CEA) levels:Plasma cancer antigen 19-9 (CA19-9) levels:Obesity with early
age of onset (age >2) |
|
19 |
6415443 |
2 |
KHSRP |
T |
C |
exonic |
synonymous SNV |
KHSRP:NM_003685:exon18:c.A1914G:p.A638A |
|
19 |
6415711 |
1 |
KHSRP |
G |
A |
exonic |
synonymous SNV |
KHSRP:NM_003685:exon17:c.C1722T:p.A574A |
|
19 |
6468331 |
1 |
DENND1C |
T |
C |
exonic |
nonsynonymous SNV |
DENND1C:NM_001290331:exon20:c.A1573G:p.M525V,DENND1C:NM_024898:exon22:c.A1705G:p.M569V |
|
19 |
6677989 |
2 |
C3 |
G |
A |
exonic |
synonymous SNV |
C3:NM_000064:exon41:c.C4896T:p.P1632P |
|
19 |
6697406 |
2 |
C3 |
A |
G |
exonic |
synonymous SNV |
C3:NM_000064:exon21:c.T2745C:p.A915A |
RS423490 |
Schizophrenia:2 hour
glucose:Salmonella-induced pyroptosis:Advanced age-related macular
degeneration (geographic atrophy) |
|
19 |
6702157 |
2 |
C3 |
C |
G |
exonic |
synonymous SNV |
C3:NM_000064:exon19:c.G2421C:p.V807V |
RS428453 |
2 hour glucose:Total
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
19 |
6707846 |
1 |
C3 |
G |
C |
exonic |
nonsynonymous SNV |
C3:NM_000064:exon15:c.C1940G:p.T647R |
|
19 |
6709848 |
1 |
C3 |
C |
T |
exonic |
synonymous SNV |
C3:NM_000064:exon14:c.G1692A:p.V564V |
RS2230204 |
Waist hip ratio:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
6710782 |
1 |
C3 |
G |
T |
exonic |
synonymous SNV |
C3:NM_000064:exon13:c.C1554A:p.P518P |
RS2230203 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Plasma protein abundance (pQTL) of C3
(CO3,UniProt:P01024,Peptide:LLDGVQNPR):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
6713262 |
1 |
C3 |
G |
A |
exonic |
nonsynonymous SNV |
C3:NM_000064:exon9:c.C941T:p.P314L |
|
19 |
6714374 |
1 |
C3 |
C |
T |
exonic |
synonymous SNV |
C3:NM_000064:exon5:c.G588A:p.P196P |
|
19 |
6718387 |
1 |
C3 |
G |
C |
exonic |
nonsynonymous SNV |
C3:NM_000064:exon3:c.C304G:p.R102G |
RS2230199 |
Age-related macular
degeneration:Age-related macular degeneration (neovascular vs Geographic
atrophy):Age-related macular degeneration (large drusen):Age-related macular
degeneration (geographic atrophy):Age-related macular degeneration
(neovascular):Rheumatoid arthritis:Age-related macular
degeneration:Age-related macular degeneration:Advanced age-related macular
degeneration:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (geographic atrophy):Age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration
(choroidal neovascularization) |
|
19 |
6731057 |
2 |
GPR108 |
T |
C |
exonic |
synonymous SNV |
GPR108:NM_001080452:exon17:c.A1500G:p.G500G |
|
19 |
6737509 |
2 |
GPR108 |
G |
A |
exonic |
synonymous SNV |
GPR108:NM_001080452:exon1:c.C79T:p.L27L |
|
19 |
6763718 |
1 |
SH2D3A |
A |
G |
exonic |
synonymous SNV |
SH2D3A:NM_005490:exon2:c.T42C:p.P14P |
RS2305805 |
Methylation levels at
chr19:6717609-6717659 [hg18 coord, probe cg15055101] in
Cerebellum:Methylation levels at chr19:6717609-6717659 [hg18 coord, probe
cg15055101] in Caudal pons:Methylation levels at chr19:6717609-6717659 [hg18
coord, probe cg15055101] in Frontal cortex:Methylation levels at
chr19:6717609-6717659 [hg18 coord, probe cg15055101] in Temporal
cortex:Height |
|
19 |
7166376 |
1 |
INSR |
C |
T |
exonic |
synonymous SNV |
INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A |
RS2059806 |
HOMA-B:Total cholesterol change
with statins:LDL cholesterol change with statins:Total cholesterol:LDL
cholesterol:Height:Urinary albumin-to-creatinine ratio:Adiponectin levels |
|
19 |
7528734 |
2 |
ARHGEF18 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R |
RS2287918 |
HOMA-IR:Cystatin C in serum:HDL
cholesterol:Diastolic blood pressure (DBP) |
|
19 |
7533767 |
2 |
ARHGEF18 |
T |
G |
exonic |
synonymous SNV |
ARHGEF18:NM_001130955:exon17:c.T2973G:p.R991R,ARHGEF18:NM_015318:exon18:c.T2499G:p.R833R |
|
19 |
7533850 |
2 |
ARHGEF18 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S |
|
19 |
7584223 |
1 |
ZNF358 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF358:NM_018083:exon2:c.A95G:p.N32S |
|
19 |
7747293 |
1 |
TRAPPC5 |
T |
G |
exonic |
nonsynonymous SNV |
TRAPPC5:NM_001042461:exon2:c.T154G:p.S52A,TRAPPC5:NM_001042462:exon2:c.T154G:p.S52A,TRAPPC5:NM_174894:exon2:c.T154G:p.S52A |
RS6952 |
Gene expression of C19orf59
(ENSG00000183019) in dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
7913974 |
2 |
EVI5L |
T |
C |
exonic |
synonymous SNV |
EVI5L:NM_001159944:exon3:c.T495C:p.H165H,EVI5L:NM_145245:exon4:c.T495C:p.H165H |
RS555609 |
Stabilized warfarin
dose:Triglycerides:LDL cholesterol:LDL cholesterol:Alcohol consumption:PROP
taste detection threshold:Gene expression of TIMM44 (ENSG00000104980) in
dendritic cells:College completion:Gene expression change of TIMM44
(ENSG00000104980) in dendritic cells after treatment with Mycobacterium
tuberculosis:Mitral annular calcium:Refractive error:Gene expression of
LRRC8E (ENSG00000171017) in dendritic cells treated with Mycobacterium
tuberculosis:Years of education |
|
19 |
7916620 |
2 |
EVI5L |
A |
G |
exonic |
synonymous SNV |
EVI5L:NM_001159944:exon7:c.A951G:p.A317A,EVI5L:NM_145245:exon8:c.A951G:p.A317A |
|
19 |
7963914 |
2 |
LRRC8E |
A |
C |
exonic |
synonymous SNV |
LRRC8E:NM_001268285:exon2:c.A120C:p.V40V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268284:exon4:c.A507C:p.V169V |
|
19 |
7964616 |
1 |
LRRC8E |
G |
C |
exonic |
synonymous SNV |
LRRC8E:NM_001268285:exon2:c.G822C:p.T274T,LRRC8E:NM_025061:exon3:c.G1209C:p.T403T,LRRC8E:NM_001268284:exon4:c.G1209C:p.T403T |
|
19 |
7986638 |
1 |
SNAPC2 |
C |
G |
exonic |
nonsynonymous SNV |
SNAPC2:NM_003083:exon3:c.C352G:p.L118V |
|
19 |
8028544 |
1 |
ELAVL1 |
A |
G |
exonic |
synonymous SNV |
ELAVL1:NM_001419:exon6:c.T804C:p.G268G |
RS14394 |
Neuroticism:Triglycerides change
with statins:Cystatin C in serum:Gene expression of ZNF71 in peripheral blood
monocytes:Birth weight |
|
19 |
8321946 |
1 |
CERS4 |
T |
C |
exonic |
synonymous SNV |
CERS4:NM_024552:exon9:c.T726C:p.S242S |
RS36247 |
HDL cholesterol:Obesity with early
age of onset (age >2) |
|
19 |
8326904 |
1 |
CERS4 |
G |
A |
exonic |
nonsynonymous SNV |
CERS4:NM_024552:exon12:c.G1096A:p.A366T |
RS36259 |
Sporadic Creutzfeldt-Jakob
disease:Primary rhegmatogenous retinal detachment |
|
19 |
8376431 |
1 |
NDUFA7 |
G |
A |
exonic |
synonymous SNV |
NDUFA7:NM_005001:exon4:c.C300T:p.P100P |
RS561 |
Gene expression of NDUFA7 (probeID
ILMN_1675239) in cerebellum in Alzheimer's disease cases:Gene expression of
NDUFA7 (probeID ILMN_1675239) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of NDUFA7 (probeID ILMN_1675239) in temporal cortex in
Alzheimer's disease cases:Refractive error:Gene expression of NDUFA7 (probeID
ILMN_1675239) in cerebellum in non-Alzheimer's disease samples:Gene
expression of NDUFA7 (probeID ILMN_1675239) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of NDUFA7 (probeID ILMN_1675239)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of NDUFA7 (probeID ILMN_1675239) in temporal cortex in Progressive
Supranuclear Palsy cases |
|
19 |
8436164 |
1 |
ANGPTL4 |
C |
T |
exonic |
nonsynonymous SNV |
ANGPTL4:NM_001039667:exon5:c.C683T:p.T228M,ANGPTL4:NM_139314:exon6:c.C797T:p.T266M |
RS1044250 |
HDL cholesterol:Chronic kidney
disease:Partial epilepsy:Triglycerides:HDL cholesterol:Gene expression of
MARCH2 (probeID ILMN_1669592) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of MARCH2 (probeID ILMN_1669592) in cerebellum
in Alzheimer's disease cases and controls:College completion |
|
19 |
8468337 |
1 |
RAB11B |
C |
T |
exonic |
synonymous SNV |
RAB11B:NM_004218:exon5:c.C552T:p.R184R |
RS2230876 |
HDL cholesterol:Triglycerides:HDL
cholesterol:Gene expression of MARCH2 in normal prepouch ileum:Parkinson's
disease |
|
19 |
8503345 |
1 |
2-Mar |
G |
C |
exonic |
nonsynonymous SNV |
MARCH2:NM_001005416:exon4:c.G446C:p.R149P,MARCH2:NM_001005415:exon5:c.G656C:p.R219P,MARCH2:NM_016496:exon6:c.G656C:p.R219P |
|
19 |
8551094 |
2 |
HNRNPM |
T |
C |
exonic |
synonymous SNV |
HNRNPM:NM_001297418:exon12:c.T1377C:p.P459P,HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P |
|
19 |
8551112 |
1 |
HNRNPM |
G |
T |
exonic |
synonymous SNV |
HNRNPM:NM_001297418:exon12:c.G1395T:p.L465L,HNRNPM:NM_005968:exon14:c.G1800T:p.L600L,HNRNPM:NM_031203:exon15:c.G1683T:p.L561L |
RS12977861 |
Alzheimer's disease (APOE4
negative):HDL cholesterol:HDL cholesterol:Infant head circumference |
|
19 |
8553630 |
2 |
HNRNPM |
C |
T |
exonic |
synonymous SNV |
HNRNPM:NM_001297418:exon14:c.C1680T:p.G560G,HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G |
RS6992 |
LDL cholesterol:LDL cholesterol |
|
19 |
8576670 |
1 |
ZNF414 |
C |
T |
exonic |
synonymous SNV |
ZNF414:NM_001146175:exon5:c.G705A:p.P235P,ZNF414:NM_032370:exon5:c.G705A:p.P235P |
|
19 |
8578000 |
1 |
ZNF414 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF414:NM_001146175:exon2:c.C229T:p.P77S,ZNF414:NM_032370:exon2:c.C229T:p.P77S |
|
19 |
8578118 |
1 |
ZNF414 |
A |
G |
exonic |
synonymous SNV |
ZNF414:NM_001146175:exon2:c.T111C:p.P37P,ZNF414:NM_032370:exon2:c.T111C:p.P37P |
RS1064009 |
Gene expression change of ZNF414
(ENSG00000133250) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of ZNF414 (ENSG00000133250) in dendritic cells
treated with Mycobacterium tuberculosis |
|
19 |
9524185 |
2 |
ZNF266 |
A |
G |
exonic |
synonymous SNV |
ZNF266:NM_001271314:exon11:c.T1416C:p.A472A,ZNF266:NM_006631:exon11:c.T1416C:p.A472A |
RS2241356 |
Gene expression of ZNF266 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of ZNF266 [probe
214686_at] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Serum
creatinine:Chronic kidney disease:Cystatin C in serum:Gene expression of
ZNF266 in Cerebellum:Height:Gene expression of ZNF266 in normal prepouch
ileum:Gene expression of ZNF266 (probeID ILMN_1753782) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of ZNF266 (probeID
ILMN_1753782) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF266 (probeID ILMN_2396786) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ZNF266 (probeID ILMN_2396786)
in temporal cortex in Alzheimer's disease cases and controls |
|
19 |
10224526 |
1 |
P2RY11;PPAN-P2RY11 |
C |
T |
exonic |
nonsynonymous SNV |
PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L |
|
19 |
10224548 |
1 |
P2RY11;PPAN-P2RY11 |
G |
A |
exonic |
nonsynonymous SNV |
P2RY11:NM_002566:exon2:c.G259A:p.A87T,PPAN-P2RY11:NM_001040664:exon13:c.G1519A:p.A507T |
RS3745601 |
Methylation levels at
chr19:10077676-10077726 [hg18 coord, probe cg12819826] in Frontal
cortex:Comorbid depressive syndrome and alcohol dependence |
|
19 |
10226256 |
1 |
EIF3G |
A |
G |
exonic |
synonymous SNV |
EIF3G:NM_003755:exon10:c.T846C:p.F282F |
RS7710 |
Refractive error |
|
19 |
10265312 |
2 |
DNMT1 |
T |
C |
exonic |
synonymous SNV |
DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T |
RS721186 |
Total cholesterol |
|
19 |
10273372 |
1 |
DNMT1 |
T |
C |
exonic |
nonsynonymous SNV |
DNMT1:NM_001318730:exon12:c.A931G:p.I311V,DNMT1:NM_001379:exon12:c.A931G:p.I311V,DNMT1:NM_001130823:exon13:c.A979G:p.I327V,DNMT1:NM_001318731:exon13:c.A616G:p.I206V |
RS2228612 |
Refractive error |
|
19 |
10291181 |
1 |
DNMT1 |
T |
C |
exonic |
nonsynonymous SNV |
DNMT1:NM_001130823:exon4:c.A290G:p.H97R,DNMT1:NM_001318730:exon4:c.A290G:p.H97R,DNMT1:NM_001379:exon4:c.A290G:p.H97R |
|
19 |
10449392 |
2 |
ICAM3 |
A |
G |
exonic |
synonymous SNV |
ICAM3:NM_001320605:exon2:c.T309C:p.S103S,ICAM3:NM_001320606:exon2:c.T78C:p.S26S,ICAM3:NM_002162:exon2:c.T309C:p.S103S |
RS2304240 |
Rheumatoid arthritis:Longstanding
arthritis:Triglycerides:HDL cholesterol:Gene expression of ICAM3 in
peripheral blood monocytes:Microalbuminuria:Gene expression of RAVER1///ICAM3
in blood:PROP taste detection threshold:Systemic lupus erythematosus (SLE):Familial
hypercholesterolemia:Familial hypercholesterolemia (LDL receptor mutation
present):Gene expression change of MRPL4 (ENSG00000105364) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of CDC37
(ENSG00000105401) in dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
10475652 |
1 |
TYK2 |
C |
A |
exonic |
nonsynonymous SNV |
TYK2:NM_003331:exon8:c.G1084T:p.V362F |
RS2304256 |
Type 1 diabetes:Gene expression of
TYK2 in peripheral blood monocytes:Selective immunoglobulin A deficiency
(IgAD):Soluble intercellular adhesion molecule 1 (ICAM-1):Type 1
diabetes:Primary biliary cirrhosis |
|
19 |
10668452 |
1 |
KRI1 |
A |
G |
exonic |
synonymous SNV |
KRI1:NM_023008:exon15:c.T1497C:p.F499F |
RS3745255 |
Gene expression of KRI1 [probe
218798_at] in lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid
arthritis:Height:Gene expression of SLC44A2 in blood:Variant
Creutzfeldt-Jakob disease:Gene expression of ATG4D (ENSG00000130734) in
dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression change
of ATG4D (ENSG00000130734) in dendritic cells after treatment with
Mycobacterium tuberculosis:Advanced age-related macular degeneration |
|
19 |
10679240 |
1 |
CDKN2D |
C |
G |
exonic |
synonymous SNV |
CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R |
|
19 |
11039724 |
1 |
TIMM29 |
C |
G |
exonic |
synonymous SNV |
TIMM29:NM_138358:exon2:c.C129G:p.A43A |
|
19 |
11224265 |
1 |
LDLR |
A |
G |
exonic |
synonymous SNV |
LDLR:NM_001195800:exon8:c.A909G:p.R303R,LDLR:NM_001195799:exon9:c.A1290G:p.R430R,LDLR:NM_001195803:exon9:c.A1032G:p.R344R,LDLR:NM_000527:exon10:c.A1413G:p.R471R,LDLR:NM_001195798:exon10:c.A1413G:p.R471R |
RS5930 |
Differential splicing of LDLR
[probeset 3821042] in lymphoblastoid cell lines:LDL
cholesterol:Schizophrenia:LDL cholesterol:Total cholesterol:HDL
cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome
and alcohol dependence:Age at death with kuru exposure:Variant
Creutzfeldt-Jakob disease:LDL cholesterol:College completion:Total
cholesterol:Coronary artery disease (CAD):Advanced age-related macular
degeneration:LDL cholesterol response after 40mg daily simvastatin
treatment:Hypertension (early onset hypertension) |
|
19 |
11230881 |
1 |
LDLR |
T |
C |
exonic |
synonymous SNV |
LDLR:NM_001195800:exon11:c.T1455C:p.V485V,LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V |
RS5925 |
LDL cholesterol change with
statins:Gene expression of CCDC121 in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Urinary albumin-to-creatinine
ratio:Microalbuminuria:LDL cholesterol:Total cholesterol |
|
19 |
11233941 |
2 |
LDLR |
A |
G |
exonic |
synonymous SNV |
LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R,LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R |
RS5927 |
LDL cholesterol:HDL cholesterol:LDL
cholesterol:Total cholesterol:Microalbuminuria:Bipolar disorder:College
completion |
|
19 |
11326119 |
1 |
DOCK6 |
A |
G |
exonic |
synonymous SNV |
DOCK6:NM_020812:exon32:c.T4050C:p.N1350N |
RS2304155 |
LDL cholesterol:Rheumatoid
arthritis:Total cholesterol:LDL cholesterol:HDL cholesterol:Diastolic blood
pressure (DBP):Advanced age-related macular degeneration (geographic
atrophy):Advanced age-related macular degeneration |
|
19 |
11326125 |
1 |
DOCK6 |
C |
T |
exonic |
synonymous SNV |
DOCK6:NM_020812:exon32:c.G4044A:p.P1348P |
RS2304154 |
Total cholesterol:LDL
cholesterol:Body mass index (BMI):Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
19 |
11327626 |
1 |
DOCK6 |
A |
G |
exonic |
synonymous SNV |
DOCK6:NM_020812:exon30:c.T3858C:p.D1286D |
RS4804152 |
LDL cholesterol:Differential exon
level expression of DOCK6 [probe 3850754] in brain cortex:Serum
creatinine:Total cholesterol:LDL cholesterol:Diastolic blood pressure
(DBP):Advanced age-related macular degeneration (geographic atrophy) |
|
19 |
11465316 |
1 |
CCDC159 |
G |
C |
exonic |
nonsynonymous SNV |
CCDC159:NM_001080503:exon10:c.G833C:p.C278S |
RS6887 |
Adiponectin levels |
|
19 |
11943697 |
2 |
ZNF440 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF440:NM_152357:exon4:c.G1706A:p.S569N |
RS400106 |
Differential exon level expression
of ZNF440 [probe 3821417] in peripheral blood mononuclear cells:Triglycerides
change with statins:Suicide attempts in bipolar disorder:Systolic blood
pressure (SBP):Adiponectin levels:Amyotrophic lateral sclerosis (ALS) |
|
19 |
12059699 |
1 |
ZNF700 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF700:NM_001271848:exon4:c.T869G:p.F290C,ZNF700:NM_144566:exon4:c.T860G:p.F287C |
|
19 |
12059838 |
1 |
ZNF700 |
G |
A |
exonic |
synonymous SNV |
ZNF700:NM_001271848:exon4:c.G1008A:p.P336P,ZNF700:NM_144566:exon4:c.G999A:p.P333P |
|
19 |
12222381 |
2 |
ZNF788 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF788:NM_001348164:exon2:c.C19G:p.R7G,ZNF788:NM_001348165:exon3:c.C19G:p.R7G,ZNF788:NM_001348163:exon4:c.C19G:p.R7G |
RS1866382 |
Rheumatoid arthritis:Waist hip
ratio:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Infant head circumference:Advanced age-related
macular degeneration |
|
19 |
12502787 |
1 |
ZNF799 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF799:NM_001080821:exon4:c.C425T:p.T142M,ZNF799:NM_001322497:exon4:c.C329T:p.T110M,ZNF799:NM_001322498:exon5:c.C329T:p.T110M |
|
19 |
12541532 |
1 |
ZNF443 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF443:NM_005815:exon4:c.G1454T:p.C485F |
|
19 |
12541547 |
1 |
ZNF443 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF443:NM_005815:exon4:c.A1439C:p.K480T |
|
19 |
12760200 |
1 |
MAN2B1 |
G |
A |
exonic |
synonymous SNV |
MAN2B1:NM_000528:exon19:c.C2310T:p.P770P,MAN2B1:NM_001173498:exon19:c.C2307T:p.P769P |
|
19 |
12772165 |
1 |
MAN2B1 |
G |
A |
exonic |
nonsynonymous SNV |
MAN2B1:NM_000528:exon7:c.C935T:p.T312I,MAN2B1:NM_001173498:exon7:c.C935T:p.T312I |
RS1054487 |
Abnormal Involuntary Movement
Scale:Alzheimer's disease:Gene expression of MAN2B1 in blood:Gene expression
of PRDX2 in blood:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of DHPS (ENSG00000095059) in dendritic
cells:Gene expression change of DHPS (ENSG00000095059) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
19 |
12786449 |
1 |
WDR83 |
G |
A |
exonic |
nonsynonymous SNV |
WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q |
|
19 |
12817497 |
1 |
TNPO2 |
G |
C |
exonic |
synonymous SNV |
TNPO2:NM_001136196:exon13:c.C1383G:p.R461R,TNPO2:NM_013433:exon13:c.C1383G:p.R461R,TNPO2:NM_001136195:exon14:c.C1383G:p.R461R |
|
19 |
12989560 |
1 |
DNASE2 |
G |
A |
exonic |
synonymous SNV |
DNASE2:NM_001375:exon4:c.C435T:p.S145S |
RS2293682 |
Irritible bowel syndrome:Arthritis
including non-Rheumatoid:LDL cholesterol:Gene expression of C19orf56 in
blood:Gene expression of PRDX2 in blood:Gene expression of MAST1///DNASE2 in
blood:Gene expression of GCDH in blood:Mitral annular calcium:Aortic valve
calcium |
|
19 |
13010520 |
2 |
GCDH |
A |
G |
exonic |
nonsynonymous SNV |
GCDH:NM_013976:exon12:c.A1250G:p.Q417R |
RS8012 |
Rheumatoid arthritis:Gene
expression of GCDH in blood cells in Celiac disease:Gene expression of GCDH
[probe ILMN_9055] in osteoblasts treated with dexamethasone:Gene expression
of GCDH [probe ILMN_9055] in osteoblasts treated with PGE2:Gene expression of
MAST1 [transcript NM_014975, probe A_23_P101480] in liver:Gene expression of
MAST1///DNASE2 in blood:Gene expression of PRDX2 in blood:Gene expression of
GCDH in blood:Resistance to kuru in aged women despite likely exposure:Gene
expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in
cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID
ILMN_2296843) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID
ILMN_1797482) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of GCDH (probeID ILMN_1797482) in cerebellum in non-Alzheimer's
disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum
in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843)
in temporal cortex in Alzheimer's disease cases:Gene expression of GCDH
(probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of GCDH (probeID
ILMN_2296843) in cerebellum in non-Alzheimer's disease samples:Gene
expression of GCDH (probeID ILMN_2296843) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in
temporal cortex in Alzheimer's disease cases |
|
19 |
13035522 |
1 |
FARSA |
C |
A |
exonic |
nonsynonymous SNV |
FARSA:NM_004461:exon10:c.G1126T:p.V376L |
|
19 |
13054615 |
1 |
CALR |
A |
C |
exonic |
nonsynonymous SNV |
CALR:NM_004343:exon9:c.A1142C:p.E381A |
|
19 |
14038791 |
1 |
CC2D1A |
C |
T |
exonic |
nonsynonymous SNV |
CC2D1A:NM_017721:exon23:c.C2402T:p.T801M |
RS2305777 |
Schizophrenia:Fasting blood
glucose:Birth weight |
|
19 |
14165278 |
2 |
PALM3 |
G |
A |
exonic |
synonymous SNV |
PALM3:NM_001145028:exon6:c.C1161T:p.G387G |
|
19 |
14200109 |
1 |
SAMD1 |
T |
C |
exonic |
synonymous SNV |
SAMD1:NM_138352:exon3:c.A702G:p.E234E |
|
19 |
14231325 |
1 |
ASF1B |
C |
G |
exonic |
synonymous SNV |
ASF1B:NM_018154:exon4:c.G555C:p.G185G |
|
19 |
14231330 |
1 |
ASF1B |
A |
G |
exonic |
synonymous SNV |
ASF1B:NM_018154:exon4:c.T550C:p.L184L |
|
19 |
14561722 |
2 |
PKN1 |
A |
G |
exonic |
synonymous SNV |
PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L |
RS8107892 |
HDL cholesterol change with
statins:Triglycerides |
|
19 |
14574959 |
1 |
PKN1 |
G |
A |
exonic |
synonymous SNV |
PKN1:NM_002741:exon12:c.G1725A:p.S575S,PKN1:NM_213560:exon12:c.G1743A:p.S581S |
RS2230538 |
LDL cholesterol:Total
cholesterol:Waist hip ratio:Refractive error:Mitral annular calcium |
|
19 |
14629150 |
1 |
DNAJB1 |
G |
A |
exonic |
synonymous SNV |
DNAJB1:NM_006145:exon1:c.C12T:p.D4D |
RS3962158 |
Years of education |
|
19 |
14829749 |
1 |
ZNF333 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF333:NM_032433:exon12:c.C1610T:p.A537V |
RS3764626 |
Gene expression of ZNF333 [probe
3822875] in peripheral blood mononuclear cells:Gene expression of CASP14 in T
cells:Alzheimer's disease:HOMA-IR:Fasting insulin:Gene expression of EMR2 in
peripheral blood monocytes:Gene expression of ZNF333 in peripheral blood
monocytes:Gene expression of EMR3 in peripheral blood monocytes:Gene
expression of ZNF333 [probe ILMN_1170] in osteoblasts treated with
dexamethasone:Gene expression of ZNF333 in blood:Gene expression of EMR3 in
blood:Gene expression of EMR2 in blood:Sporadic Creutzfeldt-Jakob
disease:Gene expression of ZNF333 (probeID ILMN_2209299) in cerebellum in
Alzheimer's disease cases:Gene expression of ZNF333 (probeID ILMN_2209299) in
breast tumors:Gene expression of ZNF333 (probeID ILMN_2209299) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of ZNF333 (probeID
ILMN_2209299) in temporal cortex in Alzheimer's disease cases:Gene expression
of ZNF333 (probeID ILMN_2209299) in cerebellum in non-Alzheimer's disease
samples:Gene expression of ZNF333 (probeID ILMN_2209299) in temporal cortex
in Alzheimer's disease cases and controls:College completion |
|
19 |
15226970 |
1 |
ILVBL |
G |
A |
exonic |
synonymous SNV |
ILVBL:NM_006844:exon12:c.C1464T:p.L488L |
RS2074262 |
HDL
cholesterol:Triglycerides:Chronic kidney disease:Aortic valve calcium |
|
19 |
15227030 |
1 |
ILVBL |
G |
A |
exonic |
synonymous SNV |
ILVBL:NM_006844:exon12:c.C1404T:p.G468G |
|
19 |
15229993 |
1 |
ILVBL |
A |
G |
exonic |
synonymous SNV |
ILVBL:NM_006844:exon9:c.T1035C:p.D345D |
|
19 |
15508362 |
2 |
AKAP8L |
G |
C |
exonic |
nonsynonymous SNV |
AKAP8L:NM_001291478:exon11:c.C1191G:p.H397Q,AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q |
|
19 |
15763721 |
2 |
CYP4F3 |
G |
A |
exonic |
synonymous SNV |
CYP4F3:NM_000896:exon9:c.G1074A:p.V358V,CYP4F3:NM_001199208:exon9:c.G1074A:p.V358V,CYP4F3:NM_001199209:exon9:c.G1074A:p.V358V |
|
19 |
15784377 |
1 |
CYP4F12 |
C |
T |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon2:c.C38T:p.P13L |
RS16995376 |
LDL cholesterol:LDL cholesterol |
|
19 |
15784386 |
2 |
CYP4F12 |
C |
T |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon2:c.C47T:p.T16M |
|
19 |
15789098 |
2 |
CYP4F12 |
A |
G |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon3:c.A226G:p.N76D |
RS609636 |
Gene expression of CYP4F12 in normal
prepouch ileum |
|
19 |
15789140 |
2 |
CYP4F12 |
A |
G |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon3:c.A268G:p.I90V |
|
19 |
15807830 |
1 |
CYP4F12 |
T |
C |
exonic |
synonymous SNV |
CYP4F12:NM_023944:exon13:c.T1510C:p.L504L |
RS593421 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio:Microalbuminuria |
|
19 |
15807884 |
2 |
CYP4F12 |
A |
G |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon13:c.A1564G:p.S522G |
RS593818 |
Gene expression of CYP4F12 in blood
cells in Celiac disease:Barnes Akathisia Rating Scale:Tardive dyskinesia:Gene
expression of OR10H1 [probe ILMN_19170] in osteoblasts treated with BMP2:Gene
expression of OR10H1 [probe ILMN_19170] in osteoblasts treated with
bmp:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of
CYP4F12 in blood |
|
19 |
15996820 |
1 |
CYP4F2 |
G |
A |
exonic |
synonymous SNV |
CYP4F2:NM_001082:exon9:c.C1029T:p.H343H |
|
19 |
16040292 |
1 |
CYP4F11 |
A |
G |
exonic |
synonymous SNV |
CYP4F11:NM_021187:exon2:c.T318C:p.I106I,CYP4F11:NM_001128932:exon3:c.T318C:p.I106I |
RS3765070 |
Total cholesterol change with
statins:Rheumatoid arthritis:Gene expression of CYP4F11 in normal prepouch
ileum |
|
19 |
16238279 |
1 |
RAB8A |
C |
T |
exonic |
synonymous SNV |
RAB8A:NM_005370:exon5:c.C357T:p.L119L |
RS1043308 |
Gene expression of AP1M1
(ENSG00000072958) in dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
16633950 |
2 |
CHERP |
T |
C |
exonic |
synonymous SNV |
CHERP:NM_006387:exon11:c.A1893G:p.P631P |
RS1043481 |
Fasting blood glucose:LDL
cholesterol |
|
19 |
16666101 |
1 |
SLC35E1 |
G |
C |
exonic |
synonymous SNV |
SLC35E1:NM_024881:exon5:c.C864G:p.P288P |
RS2287869 |
Fasting blood glucose:Birth weight |
|
19 |
16976286 |
2 |
SIN3B |
A |
G |
exonic |
synonymous SNV |
SIN3B:NM_001297597:exon2:c.A219G:p.L73L,SIN3B:NM_001297595:exon11:c.A1449G:p.L483L,SIN3B:NM_015260:exon12:c.A1545G:p.L515L |
|
19 |
17160720 |
1 |
HAUS8 |
G |
A |
exonic |
nonsynonymous SNV |
HAUS8:NM_001011699:exon11:c.C1193T:p.P398L,HAUS8:NM_033417:exon11:c.C1196T:p.P399L |
|
19 |
17163661 |
1 |
HAUS8 |
C |
T |
exonic |
synonymous SNV |
HAUS8:NM_001011699:exon10:c.G900A:p.T300T,HAUS8:NM_033417:exon10:c.G903A:p.T301T |
RS2305758 |
Crohn's disease, combined control
dataset:Major depressive disorder:Gene expression of NY-SAR-48 in peripheral
blood monocytes:Urinary albumin-to-creatinine ratio:Gene expression of
AC020908.7 in blood:Diastolic blood pressure (DBP):Comorbid depressive syndrome
and alcohol dependence:Bipolar disorder:Age at death with kuru exposure:Birth
weight:Tetrology of fallot:Advanced age-related macular degeneration
(geographic atrophy) |
|
19 |
17273893 |
2 |
MYO9B |
G |
T |
exonic |
synonymous SNV |
MYO9B:NM_001130065:exon10:c.G1632T:p.L544L,MYO9B:NM_004145:exon10:c.G1632T:p.L544L |
RS7256689 |
Suicide attempts in bipolar
disorder (substance abuse/dependence):Diastolic blood pressure (DBP):Years of
education:College completion |
|
19 |
17303774 |
1 |
MYO9B |
T |
G |
exonic |
nonsynonymous SNV |
MYO9B:NM_001130065:exon21:c.T3031G:p.S1011A,MYO9B:NM_004145:exon21:c.T3031G:p.S1011A |
RS1545620 |
Differential exon level expression
of MYO9B [probe 3824053] in peripheral blood mononuclear cells:Height:Urinary
albumin-to-creatinine ratio:Gene expression of OCEL1 in blood:Gene expression
of USE1 [probeset 219348_at] in sputum:Age at death with kuru exposure |
|
19 |
17305440 |
1 |
MYO9B |
T |
C |
exonic |
synonymous SNV |
MYO9B:NM_001130065:exon22:c.T3204C:p.G1068G,MYO9B:NM_004145:exon22:c.T3204C:p.G1068G |
RS1064305 |
Differential exon level expression
of MYO9B [probe 3824053] in peripheral blood mononuclear cells:Gene
expression of MYO9B [probe 3823982] in peripheral blood mononuclear
cells:Height:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine
ratio:Gene expression of OCEL1 in blood:Gene expression of USE1 [probeset
221706_s_at] in sputum:Gene expression of USE1 [probeset 219348_at] in
sputum:Age at death with kuru exposure |
|
19 |
17306031 |
1 |
MYO9B |
T |
C |
exonic |
synonymous SNV |
MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P,MYO9B:NM_004145:exon22:c.T3795C:p.P1265P |
RS2279003 |
Triglycerides:Microalbuminuria:Obesity
with early age of onset (age >2) |
|
19 |
17312992 |
1 |
MYO9B |
C |
T |
exonic |
synonymous SNV |
MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V,MYO9B:NM_004145:exon28:c.C4716T:p.V1572V |
RS2305765 |
LDL cholesterol:HDL
cholesterol:Obesity with early age of onset (age >2):Adiponectin levels |
|
19 |
17316782 |
2 |
MYO9B |
T |
C |
exonic |
nonsynonymous SNV |
MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A |
RS7248508 |
LDL cholesterol:HDL
cholesterol:Triglycerides:Height:Obesity with early age of onset (age
>2):Adiponectin levels |
|
19 |
17317955 |
2 |
MYO9B |
A |
G |
exonic |
synonymous SNV |
MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S,MYO9B:NM_004145:exon35:c.A5526G:p.S1842S |
RS8110964 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
19 |
17330060 |
2 |
USE1 |
T |
C |
exonic |
nonsynonymous SNV |
USE1:NM_018467:exon7:c.T461C:p.L154S |
|
19 |
17337555 |
1 |
OCEL1 |
C |
A |
exonic |
synonymous SNV |
OCEL1:NM_024578:exon2:c.C123A:p.T41T |
|
19 |
17337871 |
1 |
OCEL1 |
A |
G |
exonic |
synonymous SNV |
OCEL1:NM_024578:exon3:c.A315G:p.G105G |
RS891204 |
Gene expression of NR2F6 [probe
209262_s_at] in lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Mitral
annular calcium |
|
19 |
17337882 |
1 |
OCEL1 |
C |
G |
exonic |
nonsynonymous SNV |
OCEL1:NM_024578:exon3:c.C326G:p.A109G |
RS891203 |
Gene expression of NR2F6 [probe
209262_s_at] in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Lp-PLA2
mass:Mitral annular calcium |
|
19 |
17351535 |
1 |
NR2F6 |
G |
A |
exonic |
synonymous SNV |
NR2F6:NM_005234:exon2:c.C318T:p.N106N |
RS2288539 |
Gene expression of NR2F6 in CHB-JPT
lymphoblastoid cell lines:Gene expression of NR2F6 [probe 209262_s_at] in
lymphoblastoid cell lines:Gene expression of NR2F6 in CD4+ lymphocytes:Mitral
annular calcium |
|
19 |
17389704 |
1 |
BABAM1 |
G |
A |
exonic |
synonymous SNV |
BABAM1:NM_001288757:exon6:c.G612A:p.K204K,BABAM1:NM_001033549:exon9:c.G837A:p.K279K,BABAM1:NM_001288756:exon9:c.G837A:p.K279K,BABAM1:NM_014173:exon9:c.G837A:p.K279K |
RS8170 |
HDL cholesterol:Gene expression of
OCEL1 in CD4+ lymphocytes:Breast cancer risk (in BRCA1 mutation
carriers):Breast cancer (Estrogen receptor positive breast cancer):Breast
cancer risk (Estrogen receptor, progesterone receptor and HER2
negative):Breast cancer risk (Estrogen receptor or progesterone receptor
positive):Breast cancer (Estrogen receptor negative breast cancer):Breast
cancer risk (Progesterone receptor negative):Breast cancer risk (Estrogen
receptor or progesterone receptor negative):Breast cancer risk (Excluding
breast cancer cases diagnosed with breast cancer more than 5 years prior to
study recruitment):Breast cancer risk (BRCA1 Class 2 mutations only):Breast
cancer risk (BRCA1 Class 1 mutations only):Breast cancer risk (Excluding
BRCA1 mutation carriers who developed ovarian cancer):Epithelial ovarian
cancer (serous cases):Epithelial ovarian cancer:Epithelial ovarian cancer
survival (serous cases):Epithelial ovarian cancer
survival:Microalbuminuria:Gene expression of DDA1 in blood:Gene expression of
MRPL34 in blood:Gene expression of GTPBP3 in blood:Gene expression of OCEL1
in blood:Breast cancer:Breast cancer (Estrogen receptor negative breast
cancer):College completion:Years of education:Breast cancer
(BRCA1-carriers):Birth weight:Breast cancer (Estrogen receptor negative
breast cancer) |
|
19 |
17412366 |
1 |
ABHD8 |
G |
A |
exonic |
synonymous SNV |
ABHD8:NM_024527:exon2:c.C60T:p.A20A |
|
19 |
17412399 |
1 |
ABHD8 |
G |
A |
exonic |
synonymous SNV |
ABHD8:NM_024527:exon2:c.C27T:p.I9I |
RS11086067 |
LDL cholesterol:Total
cholesterol:Lp-PLA2 mass:Gene expression of ANKRD41 in peripheral blood
monocytes:Gene expression of OCEL1 in peripheral blood monocytes:Gene
expression of MRPL34 in peripheral blood monocytes:HDL
cholesterol:Microalbuminuria |
|
19 |
17435887 |
1 |
ANO8 |
C |
T |
exonic |
synonymous SNV |
ANO8:NM_020959:exon17:c.G2970A:p.S990S |
|
19 |
17438642 |
2 |
ANO8 |
A |
G |
exonic |
synonymous SNV |
ANO8:NM_020959:exon14:c.T2274C:p.V758V |
RS8102944 |
Chronic kidney disease |
|
19 |
17448961 |
2 |
GTPBP3 |
A |
C |
exonic |
synonymous SNV |
GTPBP3:NM_001128855:exon2:c.A198C:p.T66T,GTPBP3:NM_001195422:exon2:c.A264C:p.T88T,GTPBP3:NM_032620:exon2:c.A198C:p.T66T,GTPBP3:NM_133644:exon2:c.A198C:p.T66T |
RS1864112 |
Chronic kidney disease:HDL
cholesterol:Triglycerides |
|
19 |
17450016 |
2 |
GTPBP3 |
T |
C |
exonic |
nonsynonymous SNV |
GTPBP3:NM_133644:exon5:c.T845C:p.V282A,GTPBP3:NM_001128855:exon6:c.T749C:p.V250A,GTPBP3:NM_001195422:exon6:c.T815C:p.V272A,GTPBP3:NM_032620:exon6:c.T749C:p.V250A |
RS3810206 |
Gene expression of DDA1 in normal
prepouch ileum |
|
19 |
17628587 |
1 |
PGLS |
A |
G |
exonic |
synonymous SNV |
PGLS:NM_012088:exon4:c.A567G:p.T189T |
|
19 |
17666636 |
1 |
COLGALT1 |
C |
T |
exonic |
synonymous SNV |
COLGALT1:NM_024656:exon1:c.C114T:p.F38F |
|
19 |
17837981 |
1 |
MAP1S |
A |
G |
exonic |
synonymous SNV |
MAP1S:NM_001308363:exon5:c.A1710G:p.A570A,MAP1S:NM_018174:exon5:c.A1788G:p.A596A |
|
19 |
17922795 |
2 |
B3GNT3 |
G |
A |
exonic |
nonsynonymous SNV |
B3GNT3:NM_014256:exon3:c.G983A:p.R328H |
RS36686 |
Eye color:Simpson-Angus
Scale:Partial epilepsy:Gene expression of JAK3 [probeset 211109_at] in
sputum:Infant head circumference:Refractive error |
|
19 |
18047283 |
1 |
CCDC124 |
T |
G |
exonic |
synonymous SNV |
CCDC124:NM_001136203:exon2:c.T54G:p.R18R,CCDC124:NM_138442:exon2:c.T54G:p.R18R |
RS4808722 |
Gene expression of CCDC124 in
blood:Gene expression of IL12RB1 in blood:Parkinson's disease:Advanced
age-related macular degeneration (geographic atrophy):College completion |
|
19 |
18248146 |
2 |
MAST3 |
T |
C |
exonic |
synonymous SNV |
MAST3:NM_015016:exon18:c.T1983C:p.A661A |
RS541225 |
HDL cholesterol:Cystatin C in
serum:Refractive error |
|
19 |
18273047 |
2 |
PIK3R2 |
T |
C |
exonic |
nonsynonymous SNV |
PIK3R2:NM_005027:exon8:c.T937C:p.S313P |
RS1011320 |
HDL cholesterol:Total
cholesterol:Triglycerides:Refractive error:Tetrology of fallot |
|
19 |
18279638 |
2 |
PIK3R2 |
T |
C |
exonic |
synonymous SNV |
PIK3R2:NM_005027:exon15:c.T1911C:p.S637S |
RS273269 |
PROP taste detection threshold |
|
19 |
18279692 |
1 |
PIK3R2 |
C |
A |
exonic |
stopgain |
PIK3R2:NM_005027:exon15:c.C1965A:p.Y655X |
|
19 |
18288004 |
1 |
IFI30 |
A |
G |
exonic |
nonsynonymous SNV |
IFI30:NM_006332:exon5:c.A538G:p.M180V |
|
19 |
18288069 |
2 |
IFI30 |
A |
G |
exonic |
synonymous SNV |
IFI30:NM_006332:exon5:c.A603G:p.P201P |
RS7125 |
Irritible bowel syndrome:Rheumatoid
arthritis:Gene expression of IL12RB1 in blood:Gene expression of MAST3 in
blood:Gene expression of AC116021.5///ENST00000316350 in blood:Obesity (body
mass index (BMI)):Body mass index (BMI):Obesity with early age of onset (age
>2):Gene expression of IFI30 (ENSG00000216490) in dendritic cells |
|
19 |
18480609 |
1 |
PGPEP1 |
C |
T |
exonic |
synonymous SNV |
PGPEP1:NM_001329471:exon5:c.C531T:p.P177P |
RS7226 |
Irritible bowel
syndrome:Triglycerides:Gene expression of LRRC25///PGPEP1 in blood:Gene
expression of ELL///PGPEP1 in blood:PROP taste detection threshold:Tetrology
of fallot |
|
19 |
18497024 |
2 |
GDF15 |
G |
C |
exonic |
nonsynonymous SNV |
GDF15:NM_004864:exon1:c.G25C:p.V9L |
RS1059519 |
PROP taste detection
threshold:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
18497141 |
1 |
GDF15 |
T |
A |
exonic |
nonsynonymous SNV |
GDF15:NM_004864:exon1:c.T142A:p.S48T |
RS1059369 |
College completion |
|
19 |
18499238 |
1 |
GDF15 |
G |
T |
exonic |
synonymous SNV |
GDF15:NM_004864:exon2:c.G420T:p.P140P |
RS1804826 |
Triglycerides:PROP taste detection
threshold |
|
19 |
18499422 |
1 |
GDF15 |
C |
G |
exonic |
nonsynonymous SNV |
GDF15:NM_004864:exon2:c.C604G:p.H202D |
|
19 |
18538742 |
1 |
SSBP4 |
A |
C |
exonic |
synonymous SNV |
SSBP4:NM_001009998:exon4:c.A229C:p.R77R,SSBP4:NM_032627:exon4:c.A229C:p.R77R |
RS10405636 |
2 hour glucose:LDL
cholesterol:Total cholesterol:LDL cholesterol:Height:Urinary
albumin-to-creatinine ratio:Years of education |
|
19 |
18545786 |
1 |
ISYNA1 |
G |
T |
exonic |
synonymous SNV |
ISYNA1:NM_001253389:exon8:c.C1230A:p.T410T,ISYNA1:NM_001170938:exon10:c.C1452A:p.T484T,ISYNA1:NM_016368:exon11:c.C1614A:p.T538T |
|
19 |
18546678 |
1 |
ISYNA1 |
T |
C |
exonic |
synonymous SNV |
ISYNA1:NM_001253389:exon5:c.A645G:p.L215L,ISYNA1:NM_001170938:exon7:c.A867G:p.L289L,ISYNA1:NM_016368:exon8:c.A1029G:p.L343L |
RS2303697 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
19 |
19011244 |
1 |
COPE |
T |
C |
exonic |
synonymous SNV |
COPE:NM_199442:exon7:c.A597G:p.P199P,COPE:NM_199444:exon7:c.A594G:p.P198P,COPE:NM_007263:exon8:c.A750G:p.P250P,COPE:NM_001330469:exon9:c.A819G:p.P273P |
RS1127821 |
Neuroblastoma (brain
cancer):Adiponectin levels:Gene expression of DDX49 (ENSG00000105671) in
dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
19040312 |
2 |
HOMER3 |
G |
C |
exonic |
nonsynonymous SNV |
HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R |
|
19 |
19049194 |
1 |
HOMER3 |
G |
A |
exonic |
synonymous SNV |
HOMER3:NM_001145724:exon3:c.C271T:p.L91L,HOMER3:NM_001145721:exon4:c.C271T:p.L91L,HOMER3:NM_001145722:exon4:c.C271T:p.L91L,HOMER3:NM_004838:exon4:c.C271T:p.L91L |
|
19 |
19105259 |
1 |
SUGP2 |
G |
A |
exonic |
synonymous SNV |
SUGP2:NM_001017392:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321697:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321698:exon10:c.C3207T:p.D1069D,SUGP2:NM_001321699:exon10:c.C3207T:p.D1069D,SUGP2:NM_014884:exon10:c.C3165T:p.D1055D |
RS4808897 |
Comorbid depressive syndrome and
alcohol dependence:Multiple myeloma:Gene expression of SUGP2 in normal
prepouch ileum |
|
19 |
19136541 |
1 |
SUGP2 |
C |
T |
exonic |
nonsynonymous SNV |
SUGP2:NM_001017392:exon3:c.G616A:p.G206S,SUGP2:NM_001321697:exon3:c.G616A:p.G206S,SUGP2:NM_001321698:exon3:c.G658A:p.G220S,SUGP2:NM_001321699:exon3:c.G658A:p.G220S,SUGP2:NM_014884:exon3:c.G616A:p.G206S |
RS4808907 |
HDL cholesterol change with
statins:Gene expression of SFRS14 in blood:Birth weight |
|
19 |
19212658 |
1 |
SLC25A42 |
G |
A |
exonic |
synonymous SNV |
SLC25A42:NM_001321544:exon3:c.G150A:p.A50A,SLC25A42:NM_178526:exon3:c.G150A:p.A50A |
|
19 |
19230868 |
2 |
TMEM161A |
A |
G |
exonic |
synonymous SNV |
TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,TMEM161A:NM_017814:exon12:c.T1311C:p.A437A |
|
19 |
19449686 |
1 |
MAU2 |
G |
T |
exonic |
synonymous SNV |
MAU2:NM_015329:exon5:c.G489T:p.S163S |
RS2074090 |
Fasting blood glucose:Rheumatoid
arthritis:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index
(BMI):Mitral annular calcium |
|
19 |
19606634 |
1 |
GATAD2A |
G |
A |
exonic |
synonymous SNV |
GATAD2A:NM_001300946:exon5:c.G696A:p.S232S,GATAD2A:NM_017660:exon6:c.G696A:p.S232S |
|
19 |
20002439 |
1 |
ZNF253 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF253:NM_001331134:exon2:c.G155T:p.G52V,ZNF253:NM_001331133:exon3:c.G191T:p.G64V,ZNF253:NM_021047:exon4:c.G383T:p.G128V |
|
19 |
20003109 |
1 |
ZNF253 |
A |
G |
exonic |
synonymous SNV |
ZNF253:NM_001331134:exon2:c.A825G:p.L275L,ZNF253:NM_001331133:exon3:c.A861G:p.L287L,ZNF253:NM_021047:exon4:c.A1053G:p.L351L |
|
19 |
23545250 |
1 |
ZNF91 |
A |
G |
exonic |
synonymous SNV |
ZNF91:NM_001300951:exon3:c.T435C:p.T145T,ZNF91:NM_003430:exon4:c.T531C:p.T177T |
RS1044095 |
HOMA-B:Advanced age-related macular
degeneration (geographic atrophy):Gemcitabine-induced neutropenia/leukopenia
in cancer patients:Advanced age-related macular degeneration |
|
19 |
23837365 |
2 |
ZNF675 |
A |
C |
exonic |
nonsynonymous SNV |
ZNF675:NM_138330:exon4:c.T370G:p.L124V |
|
19 |
29704002 |
2 |
UQCRFS1 |
T |
C |
exonic |
synonymous SNV |
UQCRFS1:NM_006003:exon1:c.A24G:p.S8S |
|
19 |
29704010 |
2 |
UQCRFS1 |
A |
C |
exonic |
nonsynonymous SNV |
UQCRFS1:NM_006003:exon1:c.T16G:p.S6A |
RS8100724 |
Eye color:Stabilized warfarin
dose:Differential exon level expression of UQCRFS1 [probe 3857699] in
peripheral blood mononuclear cells:Differential exon level expression of
UQCRFS1 [probe 3857699] in brain cortex:HOMA-IR:Fasting blood
glucose:Refractive error |
|
19 |
30193653 |
1 |
C19orf12 |
T |
G |
exonic |
nonsynonymous SNV |
C19orf12:NM_001282929:exon2:c.A200C:p.K67T,C19orf12:NM_001282930:exon2:c.A200C:p.K67T,C19orf12:NM_001031726:exon3:c.A425C:p.K142T,C19orf12:NM_001256047:exon3:c.A392C:p.K131T,C19orf12:NM_031448:exon3:c.A392C:p.K131T,C19orf12:NM_001282931:exon4:c.A200C:p.K67T |
|
19 |
32873698 |
2 |
ZNF507 |
A |
G |
exonic |
synonymous SNV |
ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S |
RS2270399 |
Comorbid depressive syndrome and
alcohol dependence:Years of education:Adiponectin levels:College completion |
|
19 |
32930069 |
2 |
DPY19L3 |
G |
A |
exonic |
synonymous SNV |
DPY19L3:NM_001172774:exon7:c.G648A:p.A216A,DPY19L3:NM_207325:exon7:c.G648A:p.A216A |
RS6510249 |
HDL cholesterol:HDL
cholesterol:Triglycerides:Comorbid depressive syndrome and alcohol
dependence:Refractive error |
|
19 |
33098632 |
1 |
ANKRD27 |
G |
C |
exonic |
nonsynonymous SNV |
ANKRD27:NM_032139:exon23:c.C2282G:p.P761R |
RS2302970 |
LDL cholesterol:HOMA-IR:Fasting
insulin:LDL cholesterol:Cystatin C in serum:Urinary albumin-to-creatinine
ratio |
|
19 |
33106621 |
1 |
ANKRD27 |
C |
T |
exonic |
synonymous SNV |
ANKRD27:NM_032139:exon22:c.G2118A:p.A706A |
RS405858 |
HDL cholesterol:Gene expression of
ANKRD27 probe [GI_14149802-S] in brain cortex with no Alzheimer's
interaction:Major depressive disorder:Serum creatinine:Cystatin C in
serum:Lysine/valine ratio:Obesity with early age of onset (age >2) |
|
19 |
33117666 |
1 |
ANKRD27 |
T |
C |
exonic |
synonymous SNV |
ANKRD27:NM_032139:exon16:c.A1488G:p.G496G |
RS6510271 |
LDL cholesterol:HDL cholesterol:LDL
cholesterol:Suicide attempts in bipolar disorder (males):Lysine/valine ratio |
|
19 |
33370161 |
1 |
CEP89 |
A |
C |
exonic |
synonymous SNV |
CEP89:NM_032816:exon19:c.T2259G:p.V753V |
RS745959 |
HDL cholesterol:Lysine/valine
ratio:Adiponectin levels:Obesity with early age of onset (age >2) |
|
19 |
33390796 |
2 |
CEP89 |
G |
A |
exonic |
synonymous SNV |
CEP89:NM_032816:exon16:c.C1842T:p.N614N |
RS10418340 |
Lysine/valine ratio |
|
19 |
33487071 |
1 |
RHPN2 |
G |
C |
exonic |
synonymous SNV |
RHPN2:NM_033103:exon11:c.C1281G:p.A427A |
RS12610600 |
HDL cholesterol:College completion |
|
19 |
33498978 |
1 |
RHPN2 |
A |
G |
exonic |
synonymous SNV |
RHPN2:NM_033103:exon7:c.T702C:p.C234C |
RS2163807 |
Fasting insulin:HOMA-IR |
|
19 |
33600764 |
1 |
GPATCH1 |
T |
C |
exonic |
nonsynonymous SNV |
GPATCH1:NM_018025:exon11:c.T1427C:p.L476P |
RS2287679 |
Fasting
insulin:Microalbuminuria:Serum dehydroepiandrosterone sulphate
(DHEAS):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Lumbar spine bone mineral density (BMD):Gene
expression of RHPN2 (probeID ILMN_1753143) in temporal cortex in Alzheimer's
disease cases and controls:Femoral neck bone mineral density (BMD):Advanced
age-related macular degeneration:Gene expression of RHPN2 (probeID
ILMN_1753143) in cerebellum in Alzheimer's disease cases and controls |
|
19 |
33602757 |
1 |
GPATCH1 |
C |
T |
exonic |
synonymous SNV |
GPATCH1:NM_018025:exon12:c.C1713T:p.H571H |
RS10420258 |
Microalbuminuria |
|
19 |
33693785 |
1 |
LRP3 |
G |
A |
exonic |
synonymous SNV |
LRP3:NM_002333:exon3:c.G153A:p.T51T |
|
19 |
33696354 |
1 |
LRP3 |
C |
T |
exonic |
synonymous SNV |
LRP3:NM_002333:exon5:c.C678T:p.R226R |
|
19 |
33696621 |
1 |
LRP3 |
C |
T |
exonic |
synonymous SNV |
LRP3:NM_002333:exon5:c.C945T:p.G315G |
|
19 |
33696708 |
1 |
LRP3 |
T |
C |
exonic |
synonymous SNV |
LRP3:NM_002333:exon5:c.T1032C:p.T344T |
|
19 |
33697546 |
1 |
LRP3 |
C |
T |
exonic |
synonymous SNV |
LRP3:NM_002333:exon6:c.C1632T:p.F544F |
RS1056041 |
Triglycerides:HDL
cholesterol:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Total
cholesterol change with statins:Cystatin C in serum |
|
19 |
33698018 |
1 |
LRP3 |
C |
T |
exonic |
nonsynonymous SNV |
LRP3:NM_002333:exon7:c.C1850T:p.A617V |
|
19 |
33698291 |
2 |
LRP3 |
T |
C |
exonic |
nonsynonymous SNV |
LRP3:NM_002333:exon7:c.T2123C:p.V708A |
RS3745974 |
Autism with verbal ability:Autism |
|
19 |
33793146 |
1 |
CEBPA |
C |
G |
exonic |
nonsynonymous SNV |
CEBPA:NM_001287424:exon1:c.G280C:p.E94Q,CEBPA:NM_001287435:exon1:c.G133C:p.E45Q,CEBPA:NM_004364:exon1:c.G175C:p.E59Q |
|
19 |
33882222 |
1 |
PEPD |
G |
A |
exonic |
synonymous SNV |
PEPD:NM_001166056:exon11:c.C1008T:p.H336H,PEPD:NM_001166057:exon11:c.C939T:p.H313H,PEPD:NM_000285:exon13:c.C1131T:p.H377H |
RS17569 |
HDL cholesterol:Waist hip
ratio:Obesity with early age of onset (age >2):Adiponectin levels |
|
19 |
34843761 |
1 |
KIAA0355 |
C |
A |
exonic |
synonymous SNV |
KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P |
|
19 |
34959979 |
2 |
UBA2 |
A |
G |
exonic |
synonymous SNV |
UBA2:NM_005499:exon17:c.A1776G:p.S592S |
RS7259160 |
Autism:Adiponectin levels |
|
19 |
34973476 |
2 |
WTIP |
G |
A |
exonic |
synonymous SNV |
WTIP:NM_001080436:exon1:c.G597A:p.E199E |
|
19 |
35450229 |
1 |
ZNF792 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF792:NM_175872:exon4:c.G530A:p.R177Q |
RS2651079 |
Simpson-Angus Scale:LDL
cholesterol:Total cholesterol:Lysine/valine ratio:Gene expression of ZNF792
in blood:Gene expression of ZNF30 in blood:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
35510102 |
1 |
GRAMD1A |
G |
C |
exonic |
synonymous SNV |
GRAMD1A:NM_001136199:exon11:c.G1200C:p.T400T,GRAMD1A:NM_001320035:exon11:c.G519C:p.T173T,GRAMD1A:NM_001320034:exon12:c.G1221C:p.T407T,GRAMD1A:NM_020895:exon12:c.G1221C:p.T407T,GRAMD1A:NM_001320036:exon13:c.G1479C:p.T493T |
RS2290646 |
Aortic valve calcium |
|
19 |
35741456 |
1 |
LSR |
T |
C |
exonic |
synonymous SNV |
LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V |
RS2073900 |
Schizophrenia:Asthma:Gene
expression of HPN in blood:Gene expression of FXYD5 in
blood:Salmonella-induced pyroptosis:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Primary rhegmatogenous retinal
detachment:Adiponectin levels |
|
19 |
35757427 |
1 |
LSR |
G |
A |
exonic |
nonsynonymous SNV |
LSR:NM_001260490:exon3:c.G764A:p.S255N,LSR:NM_205835:exon4:c.G884A:p.S295N,LSR:NM_001260489:exon5:c.G1031A:p.S344N,LSR:NM_015925:exon5:c.G1031A:p.S344N,LSR:NM_205834:exon6:c.G1088A:p.S363N |
|
19 |
36243089 |
2 |
LIN37 |
T |
C |
exonic |
nonsynonymous SNV |
LIN37:NM_019104:exon2:c.T47C:p.V16A |
|
19 |
36486445 |
2 |
SDHAF1 |
G |
C |
exonic |
nonsynonymous SNV |
SDHAF1:NM_001042631:exon1:c.G269C:p.C90S |
|
19 |
36497358 |
2 |
SYNE4 |
C |
G |
exonic |
nonsynonymous SNV |
SYNE4:NM_001297735:exon3:c.G495C:p.Q165H,SYNE4:NM_001039876:exon5:c.G834C:p.Q278H |
|
19 |
36583651 |
2 |
WDR62 |
G |
A |
exonic |
synonymous SNV |
WDR62:NM_001083961:exon19:c.G2271A:p.L757L,WDR62:NM_173636:exon19:c.G2271A:p.L757L |
|
19 |
36590329 |
2 |
WDR62 |
T |
C |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon22:c.T2549C:p.L850S,WDR62:NM_173636:exon22:c.T2549C:p.L850S |
RS2285745 |
Spine bone mineral density
(BMD):Gene expression of POLR2I in blood:Gene expression of ALKBH6///CLIP3 in
blood:Gene expression of CAPNS1///COX7A1 in blood:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
36594659 |
2 |
WDR62 |
A |
T |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L |
RS2074435 |
Lung function, predicted ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):College completion |
|
19 |
36594853 |
2 |
WDR62 |
G |
A |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon30:c.G4123A:p.G1375S,WDR62:NM_173636:exon30:c.G4108A:p.G1370S |
|
19 |
36595436 |
2 |
WDR62 |
A |
C |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F |
RS1008328 |
Fasting insulin:Total
cholesterol:Gene expression of POLR2I in peripheral blood monocytes |
|
19 |
36727365 |
1 |
ZNF146 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF146:NM_001099638:exon3:c.G23A:p.R8K,ZNF146:NM_001099639:exon3:c.G23A:p.R8K,ZNF146:NM_007145:exon4:c.G23A:p.R8K |
RS2070132 |
Differential exon level expression
of ZNF146 [probe 3831276] in peripheral blood mononuclear cells:Differential
exon level expression of ZNF146 [probe 3831276] in brain cortex:Total
cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr19:41411052-41411102
[hg18 coord, probe cg02358804] in Frontal cortex:Gene expression of ZNF545 in
peripheral blood monocytes:Gene expression of ZFP14 in peripheral blood
monocytes:Waist hip ratio:Gene expression of [probe 2600301 centered at
chr19:41360499] in blood:Gene expression of ZNF565 in blood:Gene expression
of ZFP82 in blood:Gene expression of ZNF146 in blood:Gene expression of ZFP14
in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression
change of ZNF146 (ENSG00000167635) in dendritic cells after treatment with
Mycobacterium tuberculosis:Hypertension (early onset hypertension) |
|
19 |
37038092 |
2 |
ZNF529 |
T |
C |
exonic |
synonymous SNV |
ZNF529:NM_001145650:exon5:c.A1314G:p.G438G,ZNF529:NM_020951:exon5:c.A1368G:p.G456G,ZNF529:NM_001145649:exon6:c.A1368G:p.G456G,ZNF529:NM_001321351:exon6:c.A1053G:p.G351G |
RS2278168 |
Gene expression of ZFP14 in
peripheral blood monocytes:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
37117302 |
2 |
ZNF382 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF382:NM_001256838:exon5:c.A500G:p.E167G,ZNF382:NM_032825:exon5:c.A503G:p.E168G |
RS3108171 |
LDL cholesterol:Abnormal Involuntary
Movement Scale:Lp-PLA2 mass:Bipolar disorder |
|
19 |
38189440 |
2 |
ZNF607 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF607:NM_001172677:exon5:c.A1589G:p.K530R,ZNF607:NM_032689:exon5:c.A1592G:p.K531R |
RS958305 |
2 hour glucose:LDL cholesterol
change with statins:Total cholesterol change with
statins:Triglycerides:Paclitaxel sensitivity in NCI60 cancer cell
lines:Primary rhegmatogenous retinal detachment |
|
19 |
38189616 |
2 |
ZNF607 |
T |
C |
exonic |
synonymous SNV |
ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T |
|
19 |
38696847 |
1 |
SIPA1L3 |
G |
A |
exonic |
synonymous SNV |
SIPA1L3:NM_015073:exon22:c.G5313A:p.A1771A |
|
19 |
38861333 |
2 |
CATSPERG |
G |
A |
exonic |
synonymous SNV |
CATSPERG:NM_001330496:exon28:c.G3261A:p.P1087P,CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P |
RS1052375 |
Gene expression of C19orf33 in
normal prepouch ileum:Salmonella-induced pyroptosis:Acute lung injury
following major trauma |
|
19 |
38899459 |
1 |
FAM98C |
G |
C |
exonic |
nonsynonymous SNV |
FAM98C:NM_001351675:exon6:c.G741C:p.W247C,FAM98C:NM_174905:exon8:c.G987C:p.W329C |
|
19 |
39196745 |
2 |
ACTN4 |
C |
T |
exonic |
synonymous SNV |
ACTN4:NM_001322033:exon5:c.C546T:p.N182N,ACTN4:NM_004924:exon5:c.C546T:p.N182N |
RS3745859 |
HDL
cholesterol:Triglycerides:Bipolar disorder:Adiponectin levels:Birth weight |
|
19 |
39322087 |
2 |
ECH1 |
T |
G |
exonic |
nonsynonymous SNV |
ECH1:NM_001398:exon2:c.A122C:p.E41A |
RS9419 |
Serum creatinine:Methylation levels
at chr19:44014948-44014998 [hg18 coord, probe cg00204262] in Caudal
pons:Salmonella-induced pyroptosis:Years of education:Parkinson's
disease:Birth weight |
|
19 |
39329205 |
1 |
HNRNPL |
C |
T |
exonic |
synonymous SNV |
HNRNPL:NM_001005335:exon10:c.G990A:p.Q330Q,HNRNPL:NM_001533:exon10:c.G1389A:p.Q463Q |
|
19 |
39360597 |
1 |
RINL |
C |
T |
exonic |
nonsynonymous SNV |
RINL:NM_001195833:exon9:c.G1328A:p.R443Q,RINL:NM_198445:exon9:c.G986A:p.R329Q |
|
19 |
39360720 |
1 |
RINL |
G |
A |
exonic |
nonsynonymous SNV |
RINL:NM_001195833:exon9:c.C1205T:p.P402L,RINL:NM_198445:exon9:c.C863T:p.P288L |
|
19 |
39433299 |
1 |
FBXO17 |
A |
G |
exonic |
synonymous SNV |
FBXO17:NM_024907:exon6:c.T786C:p.Y262Y,FBXO17:NM_148169:exon6:c.T813C:p.Y271Y |
RS8113389 |
Gene expression of SARS2 in CEU
lymphoblastoid cell lines:Triglycerides:Urinary albumin-to-creatinine
ratio:Gene expression of SARS2 in normal prepouch ileum |
|
19 |
39914748 |
1 |
PLEKHG2 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K |
RS31726 |
Gene expression of RPS16 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression
of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential
exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL
cholesterol change with statins:Total cholesterol change with
statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene
expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension
(early onset hypertension):Aortic valve calcium:Maternal transmission
distortion |
|
19 |
39915637 |
1 |
PLEKHG2 |
G |
A |
exonic |
synonymous SNV |
PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q |
RS31727 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Aortic valve calcium |
|
19 |
39944082 |
1 |
SUPT5H |
C |
T |
exonic |
synonymous SNV |
SUPT5H:NM_003169:exon2:c.C162T:p.Y54Y,SUPT5H:NM_001111020:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130824:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130825:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319990:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319991:exon3:c.C162T:p.Y54Y |
|
19 |
39955533 |
1 |
SUPT5H |
G |
A |
exonic |
synonymous SNV |
SUPT5H:NM_001130825:exon10:c.G708A:p.E236E,SUPT5H:NM_001319991:exon10:c.G708A:p.E236E,SUPT5H:NM_003169:exon10:c.G720A:p.E240E,SUPT5H:NM_001111020:exon11:c.G720A:p.E240E,SUPT5H:NM_001130824:exon11:c.G720A:p.E240E,SUPT5H:NM_001319990:exon11:c.G720A:p.E240E |
RS2304217 |
Differential exon level expression
of RPS16 [probe 3862031] in peripheral blood mononuclear cells:Age at death
with kuru exposure:Gene expression of RPS16 in normal prepouch ileum:Aortic
valve calcium |
|
19 |
40030704 |
1 |
EID2 |
C |
T |
exonic |
nonsynonymous SNV |
EID2:NM_153232:exon1:c.G16A:p.A6T |
RS7252027 |
HDL cholesterol change with
statins:Total cholesterol:LDL cholesterol:Body mass index (BMI):Acute lung
injury following major trauma:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
19 |
40357683 |
1 |
FCGBP |
T |
G |
exonic |
synonymous SNV |
FCGBP:NM_003890:exon34:c.A15630C:p.A5210A |
RS759120 |
Triglycerides change with statins |
|
19 |
40360928 |
1 |
FCGBP |
G |
A |
exonic |
synonymous SNV |
FCGBP:NM_003890:exon33:c.C15480T:p.R5160R |
RS1053686 |
Microalbuminuria:Birth weight |
|
19 |
40368395 |
2 |
FCGBP |
C |
T |
exonic |
nonsynonymous SNV |
FCGBP:NM_003890:exon28:c.G12953A:p.R4318H |
|
19 |
40478362 |
1 |
PSMC4 |
T |
C |
exonic |
synonymous SNV |
PSMC4:NM_006503:exon3:c.T222C:p.H74H |
|
19 |
40480501 |
1 |
PSMC4 |
C |
T |
exonic |
synonymous SNV |
PSMC4:NM_006503:exon5:c.C540T:p.A180A,PSMC4:NM_153001:exon5:c.C447T:p.A149A |
|
19 |
40720079 |
1 |
MAP3K10 |
C |
T |
exonic |
synonymous SNV |
MAP3K10:NM_002446:exon9:c.C2493T:p.D831D |
|
19 |
40929363 |
2 |
SERTAD1 |
T |
C |
exonic |
nonsynonymous SNV |
SERTAD1:NM_013376:exon2:c.A91G:p.T31A |
RS268687 |
HOMA-IR:Fasting insulin |
|
19 |
41082868 |
1 |
SHKBP1 |
T |
C |
exonic |
synonymous SNV |
SHKBP1:NM_138392:exon1:c.T63C:p.I21I |
RS16974365 |
Gene expression of LTBP4 in liver |
|
19 |
41096189 |
1 |
SHKBP1 |
A |
G |
exonic |
synonymous SNV |
SHKBP1:NM_138392:exon16:c.A1629G:p.T543T |
|
19 |
41209689 |
1 |
COQ8B |
G |
A |
exonic |
synonymous SNV |
COQ8B:NM_001142555:exon7:c.C525T:p.A175A,COQ8B:NM_024876:exon8:c.C648T:p.A216A |
RS4803357 |
Triglycerides:HDL cholesterol |
|
19 |
41211056 |
2 |
COQ8B |
T |
C |
exonic |
nonsynonymous SNV |
COQ8B:NM_001142555:exon6:c.A398G:p.H133R,COQ8B:NM_024876:exon7:c.A521G:p.H174R |
RS3865452 |
Fasting insulin:HDL
cholesterol:Gene expression of EGLN2 in blood:Gene expression of RAB4B in
blood:Gene expression of MIA (ENSG00000167578) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression of EGLN2 (ENSG00000171570) in
dendritic cells:Mitral annular calcium:Gene expression change of EGLN2
(ENSG00000171570) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
19 |
41255500 |
2 |
C19orf54 |
C |
G |
exonic |
nonsynonymous SNV |
C19orf54:NM_198476:exon1:c.G209C:p.R70P |
RS2254343 |
Gene expression of FLJ41131 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:Gene expression of
C19orf54 (probeID ILMN_1729546) in cerebellum in Alzheimer's disease cases
and controls:Mitral annular calcium:Gene expression of C19orf54 (probeID
ILMN_1729546) in temporal cortex in Alzheimer's disease cases and controls |
|
19 |
41700493 |
2 |
CYP2S1 |
G |
C |
exonic |
synonymous SNV |
CYP2S1:NM_030622:exon2:c.G222C:p.P74P |
RS338599 |
HDL cholesterol change with
statins:PROP taste detection threshold |
|
19 |
41809995 |
1 |
HNRNPUL1 |
A |
G |
exonic |
synonymous SNV |
HNRNPUL1:NM_001301016:exon13:c.A1824G:p.P608P,HNRNPUL1:NM_001321208:exon13:c.A1791G:p.P597P,HNRNPUL1:NM_001321211:exon13:c.A1791G:p.P597P,HNRNPUL1:NM_007040:exon13:c.A2091G:p.P697P,HNRNPUL1:NM_144732:exon13:c.A1791G:p.P597P |
RS1056854 |
Advanced age-related macular
degeneration |
|
19 |
41811730 |
2 |
HNRNPUL1 |
T |
C |
exonic |
synonymous SNV |
HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T |
|
19 |
41858921 |
2 |
TGFB1 |
G |
A |
exonic |
nonsynonymous SNV |
TGFB1:NM_000660:exon1:c.C29T:p.P10L |
|
19 |
41869392 |
2 |
B9D2 |
T |
C |
exonic |
nonsynonymous SNV |
B9D2:NM_030578:exon2:c.A33G:p.I11M |
RS2241714 |
Stabilized warfarin dose:Rheumatoid
arthritis:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Cystatin C
in serum:Gene expression of TMEM91 in peripheral blood monocytes:Gene
expression of B3GNT8 in peripheral blood monocytes:Gene expression of B9D2 in
peripheral blood monocytes:Total cholesterol:Asthma:Gene expression of TMEM91
in blood:Coronary artery disease (CAD):Advanced age-related macular
degeneration:Gene expression of BCKDHA in normal prepouch ileum:Tetrology of
fallot:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Coronary artery disease (CAD) |
|
19 |
41903220 |
2 |
EXOSC5 |
G |
A |
exonic |
nonsynonymous SNV |
EXOSC5:NM_020158:exon1:c.C14T:p.T5M |
RS10853751 |
Eye color:Stabilized warfarin
dose:Differential exon level expression of TMEM91 [probe 3834195] in
peripheral blood mononuclear cells:2 hour glucose:Fasting
insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Height:Gene expression of
EXOSC5 [transcript NM_020158, probe A_24_P211151] in liver:Gene expression of
BCKDHA///B3GNT8 in blood:Gene expression of BCKDHA///ATP5SL in blood:Gene
expression of TMEM91 in blood:Advanced age-related macular degeneration:Gene
expression of BCKDHA in normal prepouch ileum:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
41928652 |
2 |
BCKDHA |
C |
T |
exonic |
synonymous SNV |
BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F |
RS284652 |
Gene expression of BCKDHA in normal
prepouch ileum |
|
19 |
41930396 |
2 |
BCKDHA |
A |
G |
exonic |
synonymous SNV |
BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L |
RS4674 |
2 hour glucose:Fasting
insulin:HOMA-B:Chronic kidney disease:Height:Advanced age-related macular
degeneration:Coronary artery disease (CAD):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
BCKDHA in normal prepouch ileum |
|
19 |
41932084 |
2 |
B3GNT8 |
G |
T |
exonic |
synonymous SNV |
B3GNT8:NM_198540:exon3:c.C600A:p.A200A |
RS284660 |
HOMA-B:Fasting insulin:Chronic
kidney disease:Height:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
41932120 |
2 |
B3GNT8 |
C |
T |
exonic |
synonymous SNV |
B3GNT8:NM_198540:exon3:c.G564A:p.V188V |
RS284661 |
HOMA-B:Fasting insulin:Height:Gene
expression of B3GNT8 (ENSG00000177191) in dendritic cells:Gene expression of
BCKDHA in normal prepouch ileum:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Advanced age-related macular
degeneration |
|
19 |
42736267 |
2 |
GSK3A |
A |
G |
exonic |
synonymous SNV |
GSK3A:NM_019884:exon10:c.T1320C:p.L440L |
|
19 |
42799049 |
1 |
CIC |
C |
T |
exonic |
synonymous SNV |
CIC:NM_015125:exon20:c.C4533T:p.I1511I,CIC:NM_001304815:exon21:c.C7260T:p.I2420I |
RS1052023 |
Barnes Akathisia Rating Scale |
|
19 |
44047826 |
2 |
XRCC1 |
T |
A |
exonic |
nonsynonymous SNV |
XRCC1:NM_006297:exon16:c.A1726T:p.N576Y |
|
19 |
44057227 |
2 |
XRCC1 |
T |
C |
exonic |
synonymous SNV |
XRCC1:NM_006297:exon7:c.A618G:p.P206P |
|
19 |
44351836 |
2 |
ZNF283 |
G |
A |
exonic |
synonymous SNV |
ZNF283:NM_001297752:exon6:c.G666A:p.Q222Q,ZNF283:NM_181845:exon7:c.G1083A:p.Q361Q |
RS957569 |
Gene expression of ZNF283 in
CEU-CHB-JPT lymphoblastoid cell lines:Triglycerides:HOMA-IR:Fasting
insulin:HOMA-B:Rheumatoid arthritis |
|
19 |
44352665 |
2 |
ZNF283 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF283:NM_001297752:exon6:c.T1495C:p.C499R,ZNF283:NM_181845:exon7:c.T1912C:p.C638R |
RS2356437 |
Gene expression of ZNF283 in
CEU-CHB-JPT lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Rheumatoid
arthritis:Bipolar disorder:Age at death with kuru exposure |
|
19 |
44377357 |
2 |
ZNF404 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF404:NM_001033719:exon2:c.G1000A:p.G334S |
|
19 |
44417575 |
2 |
ZNF45 |
A |
G |
exonic |
synonymous SNV |
ZNF45:NM_003425:exon10:c.T2013C:p.F671F |
RS417699 |
Hypertension:Gene expression of
FLJ30469 in brain cortex:Gene expression of FLJ30469 probe [GI_32698975-S] in
brain cortex with no Alzheimer's interaction:Methylation levels at
chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Frontal cortex:Methylation
levels at chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Temporal
cortex:Gene expression of KCNN4 in peripheral blood monocytes:Gene expression
of UHRF1 in peripheral blood monocytes:Gene expression of ZNF404 (probeID
ILMN_1682227) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF404 (probeID ILMN_1682227) in temporal cortex in Alzheimer's
disease cases and controls:Maternal transmission distortion:Birth weight |
|
19 |
44418824 |
2 |
ZNF45 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF45:NM_003425:exon10:c.G764A:p.R255K |
RS399098 |
Differential exon level expression
of ZNF45 [probe 3864727] in peripheral blood mononuclear cells:Differential
exon level expression of ZNF45 [probe 3864727] in brain cortex:Total
cholesterol:Methylation levels at chr19:49122726-49122776 [hg18 coord, probe
cg00185103] in Frontal cortex:Methylation levels at chr19:49122726-49122776
[hg18 coord, probe cg00185103] in Temporal cortex:Neuroblastoma (brain
cancer):Gene expression of KCNN4 in blood:Hypertension (early onset
hypertension):Gene expression of ZNF404 (probeID ILMN_1682227) in temporal
cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression
of ZNF404 (probeID ILMN_1682227) in cerebellum in Alzheimer's disease cases
and controls |
|
19 |
44419030 |
2 |
ZNF45 |
A |
G |
exonic |
synonymous SNV |
ZNF45:NM_003425:exon10:c.T558C:p.H186H |
|
19 |
44500478 |
2 |
ZNF155 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F |
|
19 |
44570393 |
2 |
ZNF223 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF223:NM_013361:exon5:c.C412A:p.L138I |
RS6509138 |
Triglycerides:Triglycerides change
with statins:Sporadic Creutzfeldt-Jakob disease:Gene expression of ZNF223 in
normal prepouch ileum:Breast cancer |
|
19 |
44570551 |
2 |
ZNF223 |
G |
A |
exonic |
synonymous SNV |
ZNF223:NM_013361:exon5:c.G570A:p.A190A |
RS4375771 |
HOMA-IR:LDL cholesterol change with
statins |
|
19 |
44610665 |
2 |
ZNF224 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF224:NM_001321645:exon6:c.A352G:p.M118V,ZNF224:NM_013398:exon6:c.A352G:p.M118V |
RS2068061 |
Bipolar disorder:Irritible bowel
syndrome:Differential exon level expression of ZNF223 [probe 3835379] in
brain cortex:LDL cholesterol change with statins:Gene expression of
ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in blood:Bipolar
disorder:Tetrology of fallot:Gene expression of ZNF230 in normal prepouch
ileum:Gene expression of ZNF223 in normal prepouch ileum |
|
19 |
44610798 |
2 |
ZNF224 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF224:NM_001321645:exon6:c.A485T:p.H162L,ZNF224:NM_013398:exon6:c.A485T:p.H162L |
|
19 |
44611066 |
2 |
ZNF224 |
T |
C |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.T753C:p.H251H,ZNF224:NM_013398:exon6:c.T753C:p.H251H |
RS7508149 |
Gene expression of ZNF221 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines |
|
19 |
44611420 |
2 |
ZNF224 |
A |
G |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.A1107G:p.E369E,ZNF224:NM_013398:exon6:c.A1107G:p.E369E |
RS4508518 |
Gene expression of ZNF221 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Late onset Alzheimer's
disease:Bipolar disorder:Gene expression of ZNF230 in normal prepouch
ileum:Gene expression of ZNF223 in normal prepouch ileum |
|
19 |
44612231 |
2 |
ZNF224 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF224:NM_001321645:exon6:c.A1918G:p.K640E,ZNF224:NM_013398:exon6:c.A1918G:p.K640E |
RS3746319 |
Gene expression of ZNF221 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Irritible bowel syndrome:Late onset
Alzheimer's disease:Partial epilepsy:Late onset Alzheimer's
disease:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene
expression of ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in
blood:Bipolar disorder:Gene expression of ZNF230 in normal prepouch
ileum:Gene expression of ZNF222 (ENSG00000159885) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression of ZNF223 in normal prepouch
ileum:Gene expression change of ZNF222 (ENSG00000159885) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
19 |
44981883 |
2 |
ZNF180 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF180:NM_001278508:exon4:c.G740C:p.C247S,ZNF180:NM_001278509:exon5:c.G734C:p.C245S,ZNF180:NM_001288759:exon5:c.G812C:p.C271S,ZNF180:NM_001291633:exon5:c.G734C:p.C245S,ZNF180:NM_013256:exon5:c.G815C:p.C272S |
RS1897820 |
Lp-PLA2 activity:Lp-PLA2 mass |
|
19 |
44983567 |
2 |
ZNF180 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF180:NM_001278508:exon3:c.G192C:p.W64C,ZNF180:NM_001278509:exon4:c.G186C:p.W62C,ZNF180:NM_001288759:exon4:c.G264C:p.W88C,ZNF180:NM_001291633:exon4:c.G186C:p.W62C,ZNF180:NM_013256:exon4:c.G267C:p.W89C |
|
19 |
45162038 |
2 |
PVR |
A |
G |
exonic |
nonsynonymous SNV |
PVR:NM_001135770:exon6:c.A1020G:p.I340M,PVR:NM_006505:exon6:c.A1020G:p.I340M |
RS203710 |
Simpson-Angus Scale:Serum creatinine |
|
19 |
45262848 |
1 |
BCL3 |
C |
A |
exonic |
synonymous SNV |
BCL3:NM_005178:exon9:c.C1341A:p.P447P |
|
19 |
45281265 |
1 |
CBLC |
A |
G |
exonic |
nonsynonymous SNV |
CBLC:NM_001130852:exon1:c.A77G:p.Q26R,CBLC:NM_012116:exon1:c.A77G:p.Q26R |
|
19 |
45296832 |
1 |
CBLC |
A |
G |
exonic |
synonymous SNV |
CBLC:NM_001130852:exon7:c.A1101G:p.S367S,CBLC:NM_012116:exon8:c.A1239G:p.S413S |
|
19 |
45297479 |
1 |
CBLC |
C |
T |
exonic |
nonsynonymous SNV |
CBLC:NM_001130852:exon8:c.C1165T:p.P389S,CBLC:NM_012116:exon9:c.C1303T:p.P435S |
|
19 |
45312432 |
1 |
BCAM |
G |
A |
exonic |
synonymous SNV |
BCAM:NM_001013257:exon1:c.G51A:p.L17L,BCAM:NM_005581:exon1:c.G51A:p.L17L |
|
19 |
45322891 |
1 |
BCAM |
C |
T |
exonic |
synonymous SNV |
BCAM:NM_001013257:exon13:c.C1671T:p.S557S,BCAM:NM_005581:exon13:c.C1671T:p.S557S |
|
19 |
45322962 |
1 |
BCAM |
A |
T |
exonic |
nonsynonymous SNV |
BCAM:NM_001013257:exon13:c.A1742T:p.Q581L,BCAM:NM_005581:exon13:c.A1742T:p.Q581L |
|
19 |
45375238 |
1 |
NECTIN2 |
G |
A |
exonic |
nonsynonymous SNV |
NECTIN2:NM_001042724:exon3:c.G607A:p.E203K,NECTIN2:NM_002856:exon3:c.G607A:p.E203K |
|
19 |
45476422 |
2 |
CLPTM1 |
T |
C |
exonic |
synonymous SNV |
CLPTM1:NM_001282175:exon3:c.T222C:p.A74A,CLPTM1:NM_001294:exon3:c.T264C:p.A88A |
RS204481 |
Infant head circumference |
|
19 |
45490636 |
2 |
CLPTM1 |
T |
C |
exonic |
synonymous SNV |
CLPTM1:NM_001282175:exon8:c.T951C:p.G317G,CLPTM1:NM_001282176:exon8:c.T687C:p.G229G,CLPTM1:NM_001294:exon8:c.T993C:p.G331G |
RS204468 |
HDL cholesterol:HOMA-B:HDL
cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Gene
expression of RELB (ENSG00000104856) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of ZNF296 (ENSG00000170684) in
dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
45561063 |
2 |
CLASRP |
A |
G |
exonic |
nonsynonymous SNV |
CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E |
|
19 |
45801018 |
1 |
MARK4 |
T |
C |
exonic |
synonymous SNV |
MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R |
|
19 |
45810035 |
1 |
CKM |
A |
G |
exonic |
synonymous SNV |
CKM:NM_001824:exon8:c.T1119C:p.I373I |
RS4884 |
Fasting blood glucose:Gene
expression of CKM in peripheral blood monocytes:LDL cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Mitral annular calcium:Aortic valve calcium |
|
19 |
45854919 |
1 |
ERCC2 |
T |
G |
exonic |
nonsynonymous SNV |
ERCC2:NM_000400:exon23:c.A2251C:p.K751Q |
RS13181 |
LDL cholesterol:Total
cholesterol:Gene expression of VASP in blood:Gene expression of KLC3///ERCC2
in blood:Gene expression of ERCC2 in blood:Systolic blood pressure (SBP):DNA
repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell
reactivation testing) in lung cancer cases and controls (never smokers):Acute
lung injury following major trauma:DNA repair capacity in cultured peripheral
lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases
and controls:DNA repair capacity in cultured peripheral lymphocytes
(BPDE-damage host-cell reactivation testing) in lung cancer cases and
controls (ever smokers):DNA repair capacity in cultured peripheral
lymphocytes (BPDE-damage host-cell reactivation testing) in controls |
|
19 |
45912002 |
1 |
CD3EAP |
A |
C |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.A782C:p.K261T,CD3EAP:NM_012099:exon3:c.A776C:p.K259T |
RS735482 |
Gene expression of ERCC1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic
kidney disease:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of
VASP in blood:Gene expression of ERCC1 in blood:Bipolar disorder:Resistance to
kuru in aged women despite likely exposure:Salmonella-induced pyroptosis |
|
19 |
45912343 |
1 |
CD3EAP |
A |
G |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E,CD3EAP:NM_012099:exon3:c.A1117G:p.K373E |
RS762562 |
Chronic kidney disease:Serum
creatinine:Cystatin C in serum:Salmonella-induced pyroptosis |
|
19 |
45912406 |
1 |
CD3EAP |
G |
A |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N,CD3EAP:NM_012099:exon3:c.G1180A:p.D394N |
RS2336219 |
Gene expression of ERCC1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic
kidney disease:Gene expression of ERCC1 in peripheral blood monocytes:Gene
expression of ERCC1 in blood:Gene expression of CD3EAP///ERCC1 in blood:Gene
expression of VASP in blood:Bipolar disorder:Resistance to kuru in aged women
despite likely exposure:Primary rhegmatogenous retinal
detachment:Salmonella-induced pyroptosis |
|
19 |
45923653 |
1 |
ERCC1 |
A |
G |
exonic |
synonymous SNV |
ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N |
RS11615 |
Cystatin C in serum:LDL
cholesterol:Plasma aldosterone concentration:Body mass index
(BMI):Neuroblastoma (brain cancer):Non-Hodgkin lymphoma (Diffuse large B-cell
lymphoma):Gene expression of FOSB in blood:Gene expression of VASP in
blood:Resistance to kuru in aged women despite likely exposure:Hypertension
(early onset hypertension):Primary rhegmatogenous retinal detachment |
|
19 |
46057081 |
1 |
OPA3 |
A |
G |
exonic |
synonymous SNV |
OPA3:NM_025136:exon2:c.T231C:p.A77A |
|
19 |
46133251 |
2 |
EML2 |
C |
T |
exonic |
synonymous SNV |
EML2:NM_012155:exon7:c.G564A:p.S188S,EML2:NM_001193268:exon10:c.G1167A:p.S389S,EML2:NM_001193269:exon10:c.G1005A:p.S335S |
|
19 |
46133256 |
2 |
EML2 |
G |
A |
exonic |
nonsynonymous SNV |
EML2:NM_012155:exon7:c.C559T:p.L187F,EML2:NM_001193268:exon10:c.C1162T:p.L388F,EML2:NM_001193269:exon10:c.C1000T:p.L334F |
RS7252175 |
Hip bone mineral density
(BMD):Differential exon level expression of EML2 [probe 3865538] in brain
cortex:Total cholesterol:Gene expression of FOXA3 in blood:Gene expression of
SNRPD2 in blood:Gene expression of hsa-miR-330-3p in gluteal adipose:Sporadic
Creutzfeldt-Jakob disease |
|
19 |
46141845 |
2 |
EML2 |
T |
C |
exonic |
nonsynonymous SNV |
EML2:NM_012155:exon3:c.A97G:p.M33V,EML2:NM_001193268:exon6:c.A700G:p.M234V,EML2:NM_001193269:exon6:c.A538G:p.M180V |
RS12151009 |
Differential exon level expression
of EML2 [probe 3865538] in brain cortex:Total cholesterol:Gene expression of
SNRPD2 in blood:Gene expression of FOXA3 in blood:Sporadic Creutzfeldt-Jakob
disease:Years of education |
|
19 |
46206262 |
1 |
QPCTL |
G |
A |
exonic |
synonymous SNV |
QPCTL:NM_001163377:exon6:c.G822A:p.L274L,QPCTL:NM_017659:exon7:c.G1104A:p.L368L |
|
19 |
46216642 |
1 |
FBXO46 |
G |
T |
exonic |
nonsynonymous SNV |
FBXO46:NM_001080469:exon2:c.C112A:p.P38T,FBXO46:NM_001329632:exon2:c.C112A:p.P38T,FBXO46:NM_001329633:exon2:c.C112A:p.P38T,FBXO46:NM_001329634:exon2:c.C112A:p.P38T |
|
19 |
46268902 |
2 |
SIX5 |
C |
T |
exonic |
nonsynonymous SNV |
SIX5:NM_175875:exon3:c.G2077A:p.V693M |
RS2341097 |
Gene expression of SYMPK in CEU
lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:Methylation
levels at chr19:50977274-50977324 [hg18 coord, probe cg20908204] in
Cerebellum:Height:Diastolic blood pressure (DBP):Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Coronary artery disease (CAD) |
|
19 |
46269313 |
2 |
SIX5 |
G |
C |
exonic |
nonsynonymous SNV |
SIX5:NM_175875:exon3:c.C1666G:p.L556V |
|
19 |
46289392 |
2 |
DMWD |
G |
C |
exonic |
synonymous SNV |
DMWD:NM_004943:exon3:c.C1362G:p.P454P |
|
19 |
46289503 |
2 |
DMWD |
C |
T |
exonic |
synonymous SNV |
DMWD:NM_004943:exon3:c.G1251A:p.P417P |
RS8109951 |
Fasting blood glucose:Serum
creatinine:Methylation levels at chr19:50977274-50977324 [hg18 coord, probe
cg20908204] in Cerebellum:Gene expression of SIX5 in CD4+
lymphocytes:Height:Diastolic blood pressure (DBP):Coronary artery disease
(CAD):Endometriosis:Advanced age-related macular degeneration:Type 2
diabetes:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
46319415 |
1 |
SYMPK |
G |
C |
exonic |
synonymous SNV |
SYMPK:NM_004819:exon26:c.C3381G:p.A1127A |
|
19 |
46387344 |
1 |
IRF2BP1 |
G |
A |
exonic |
synonymous SNV |
IRF2BP1:NM_015649:exon1:c.C1689T:p.F563F |
RS11550348 |
PROP taste detection threshold |
|
19 |
46387503 |
1 |
IRF2BP1 |
T |
C |
exonic |
synonymous SNV |
IRF2BP1:NM_015649:exon1:c.A1530G:p.L510L |
RS3745926 |
Total cholesterol:Urinary
albumin-to-creatinine ratio:Microalbuminuria |
|
19 |
46404579 |
1 |
MYPOP |
A |
G |
exonic |
synonymous SNV |
MYPOP:NM_001012643:exon2:c.T453C:p.P151P |
|
19 |
46520026 |
2 |
CCDC61 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R |
RS2287306 |
LDL cholesterol:Total
cholesterol:HDL cholesterol:LDL cholesterol |
|
19 |
47177913 |
2 |
PRKD2 |
A |
G |
exonic |
nonsynonymous SNV |
PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A |
|
19 |
47223949 |
1 |
STRN4 |
G |
A |
exonic |
synonymous SNV |
STRN4:NM_001039877:exon17:c.C2193T:p.H731H,STRN4:NM_013403:exon17:c.C2172T:p.H724H |
RS313841 |
Gene expression of FKRP
(ENSG00000181027) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of STRN4 (ENSG00000090372) in dendritic
cells:Gene expression of FKRP (ENSG00000181027) in dendritic cells:Gene
expression of STRN4 (ENSG00000090372) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of PRKD2 (ENSG00000105287) in
dendritic cells |
|
19 |
47258842 |
1 |
FKRP |
C |
T |
exonic |
synonymous SNV |
FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A |
|
19 |
47548678 |
2 |
NPAS1 |
G |
A |
exonic |
synonymous SNV |
NPAS1:NM_002517:exon12:c.G1542A:p.A514A |
|
19 |
47549454 |
2 |
TMEM160 |
C |
T |
exonic |
nonsynonymous SNV |
TMEM160:NM_017854:exon3:c.G358A:p.G120S |
|
19 |
47823484 |
2 |
C5AR1 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
19 |
47878858 |
1 |
DHX34 |
C |
T |
exonic |
nonsynonymous SNV |
DHX34:NM_014681:exon10:c.C2200T:p.R734C |
|
19 |
47883086 |
1 |
DHX34 |
T |
G |
exonic |
synonymous SNV |
DHX34:NM_014681:exon14:c.T2826G:p.A942A |
|
19 |
48258717 |
2 |
NOP53 |
A |
G |
exonic |
nonsynonymous SNV |
NOP53:NM_015710:exon9:c.A1166G:p.Q389R |
|
19 |
48258772 |
2 |
NOP53 |
G |
A |
exonic |
synonymous SNV |
NOP53:NM_015710:exon9:c.G1221A:p.G407G |
|
19 |
48389425 |
2 |
SULT2A1 |
A |
G |
exonic |
synonymous SNV |
SULT2A1:NM_003167:exon1:c.T90C:p.F30F |
|
19 |
48654553 |
1 |
LIG1 |
G |
T |
exonic |
synonymous SNV |
LIG1:NM_001289063:exon6:c.C417A:p.A139A,LIG1:NM_001320971:exon6:c.C420A:p.A140A,LIG1:NM_000234:exon7:c.C510A:p.A170A,LIG1:NM_001320970:exon7:c.C507A:p.A169A |
RS20580 |
Gene expression of PLA2G4C [probe
209785_s_at] in lymphoblastoid cell lines:LDL cholesterol:Height:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(geographic atrophy) |
|
19 |
48715153 |
2 |
CARD8 |
T |
C |
exonic |
synonymous SNV |
CARD8:NM_001184900:exon11:c.A1428G:p.Q476Q,CARD8:NM_001184901:exon11:c.A1278G:p.Q426Q,CARD8:NM_014959:exon12:c.A1278G:p.Q426Q |
RS3745718 |
Blood glucose - glucose tolerance
test:Gene expression of CARD8 in CEU lymphoblastoid cell lines:Gene
expression of CARD8 [probe 204950_at] in lymphoblastoid cell
lines:Triglycerides change with statins:Gene expression of CARD8 in
Cerebellum:Gene expression of AHCY in peripheral blood monocytes:Gene
expression of CARD8 in peripheral blood monocytes:Gene expression of PLA2G4C
in peripheral blood monocytes:Gene expression of SULT1B1 in peripheral blood
monocytes:Gene expression of CARD8 (probeID ILMN_1654376) in whole blood:Gene
expression of CARD8 (probeID ILMN_2192281) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of CARD8 (probeID ILMN_2192281) in
cerebellum in Alzheimer's disease cases and controls |
|
19 |
48863386 |
2 |
TMEM143 |
C |
T |
exonic |
synonymous SNV |
TMEM143:NM_001303539:exon3:c.G312A:p.S104S,TMEM143:NM_018273:exon3:c.G312A:p.S104S |
RS438767 |
Gene expression of CCDC114 (probeID
ILMN_1658376) in cerebellum in Alzheimer's disease cases and controls:Years
of education:Gene expression of CCDC114 (probeID ILMN_1658376) in temporal
cortex in Alzheimer's disease cases and controls:College completion |
|
19 |
48949286 |
2 |
GRWD1 |
G |
T |
exonic |
synonymous SNV |
GRWD1:NM_031485:exon1:c.G24T:p.R8R |
RS1643487 |
HDL cholesterol:HDL
cholesterol:Advanced age-related macular degeneration (geographic atrophy) |
|
19 |
48973705 |
1 |
CYTH2 |
G |
C |
exonic |
nonsynonymous SNV |
CYTH2:NM_004228:exon2:c.G115C:p.E39Q,CYTH2:NM_017457:exon2:c.G115C:p.E39Q |
|
19 |
49206417 |
2 |
FUT2 |
A |
G |
exonic |
synonymous SNV |
FUT2:NM_000511:exon2:c.A204G:p.A68A,FUT2:NM_001097638:exon2:c.A204G:p.A68A |
RS492602 |
Vitamin B12 (female):LDL
cholesterol:Cystatin C in serum:Chronic kidney disease:Serum
creatinine:Crohn's disease:Triglycerides:Total cholesterol:LDL
cholesterol:Body mass index (BMI):Psoriasis:FUT2 gene expression in psoriasis
lesional skin:FUT2 gene expression in normal skin:FUT2 gene expression in
psoriasis uninvolved skin:Psoriasis:Plasma vitamin B12:Urinary
albumin-to-creatinine ratio:Gene expression of AC008888.7 in blood:Gene
expression of CA11 in blood:Gene expression of CLDN10 in blood:Serum ratio of
(ADpSGEGDFXAEGGGVR)/(DSGEGDFXAEGGGVR):Gene expression of FAM83E (probeID
ILMN_1658301) in cerebellum in Alzheimer's disease cases:Birth
weight:Advanced age-related macular degeneration:College completion:Gene
expression of FAM83E (probeID ILMN_1658301) in cerebellum in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Obesity with early age of onset
(age >2):Total cholesterol:Gene expression of FUT2 in normal prepouch ileum:Fasting
plasma vitamin B12 (pmol/L) in children:Years of education:Infant head
circumference:Adiponectin levels |
|
19 |
49206462 |
2 |
FUT2 |
C |
T |
exonic |
synonymous SNV |
FUT2:NM_000511:exon2:c.C249T:p.Y83Y,FUT2:NM_001097638:exon2:c.C249T:p.Y83Y |
RS681343 |
LDL cholesterol:Chronic kidney
disease:Cystatin C in serum:Serum creatinine:Triglycerides:LDL
cholesterol:Total cholesterol:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Gene expression of FUT2 in normal prepouch
ileum:Obesity with early age of onset (age >2):Years of education:Advanced
age-related macular degeneration:Fasting plasma vitamin B12 (pmol/L) in
children:Adiponectin levels:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Infant head circumference:Birth
weight:College completion |
|
19 |
49217261 |
2 |
MAMSTR |
A |
G |
exonic |
synonymous SNV |
MAMSTR:NM_001297753:exon5:c.T261C:p.R87R,MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R |
RS281385 |
Serum creatinine:Total
cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Aortic valve
calcium |
|
19 |
49218111 |
2 |
MAMSTR |
G |
T |
exonic |
synonymous SNV |
MAMSTR:NM_001297753:exon4:c.C171A:p.P57P,MAMSTR:NM_182574:exon4:c.C171A:p.P57P,MAMSTR:NM_001130915:exon6:c.C480A:p.P160P |
|
19 |
49218602 |
2 |
MAMSTR |
C |
T |
exonic |
synonymous SNV |
MAMSTR:NM_001297753:exon3:c.G33A:p.A11A,MAMSTR:NM_182574:exon3:c.G33A:p.A11A,MAMSTR:NM_001130915:exon5:c.G342A:p.A114A |
|
19 |
49469087 |
1 |
FTL |
T |
C |
exonic |
synonymous SNV |
FTL:NM_000146:exon2:c.T163C:p.L55L |
RS2230267 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
19 |
49485548 |
1 |
GYS1 |
G |
A |
exonic |
synonymous SNV |
GYS1:NM_001161587:exon6:c.C834T:p.F278F,GYS1:NM_002103:exon7:c.C1026T:p.F342F |
RS5464 |
Simpson-Angus
Scale:HOMA-B:HOMA-IR:Triglycerides:Urinary albumin-to-creatinine ratio:Acute
lung injury following major trauma |
|
19 |
49513273 |
1 |
RUVBL2 |
C |
T |
exonic |
synonymous SNV |
RUVBL2:NM_001321190:exon8:c.C511T:p.L171L,RUVBL2:NM_001321191:exon8:c.C478T:p.L160L,RUVBL2:NM_006666:exon8:c.C613T:p.L205L |
RS1062708 |
Gene expression of RUVBL2 in
lymphoblastoid cell lines:Differential splicing of RUVBL2 [probeset 3838136]
in lymphoblastoid cell lines:Schizophrenia:Ischemic stroke:Type 2 diabetes:2
hour glucose:Total cholesterol:Gene expression of LHB [transcript NM_000894,
probe A_23_P218505] in liver:Tetrology of fallot |
|
19 |
49621964 |
2 |
C19orf73 |
T |
C |
exonic |
nonsynonymous SNV |
C19orf73:NM_018111:exon1:c.A316G:p.S106G |
RS2232003 |
Schizophrenia:Serum
creatinine:Chronic kidney disease:Gene expression of C19orf73 [transcript
NM_018111, probe A_23_P153524] in liver:Gene expression of PPP1R15A
[transcript NM_014330, probe A_23_P90172] in liver:Gene expression of CGB7
(ENSG00000196337) in dendritic cells:Hypertension (early onset
hypertension):Advanced age-related macular degeneration (geographic
atrophy):Obsessive-compulsive disorder (OCD):Gene expression of PPFIA3 in
normal prepouch ileum |
|
19 |
49658209 |
1 |
HRC |
A |
C |
exonic |
nonsynonymous SNV |
HRC:NM_002152:exon1:c.T286G:p.S96A |
RS3745297 |
LDL cholesterol change with
statins:Height:Gene expression of TRPM4 in blood:Comorbid depressive syndrome
and alcohol dependence:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
49658367 |
1 |
HRC |
C |
T |
exonic |
nonsynonymous SNV |
HRC:NM_002152:exon1:c.G128A:p.S43N |
RS3745298 |
Gene expression of TRPM4 in
blood:Comorbid depressive syndrome and alcohol dependence:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
KCNA7 (ENSG00000104848) in dendritic cells treated with Mycobacterium
tuberculosis:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression change of KCNA7
(ENSG00000104848) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
19 |
49658390 |
1 |
HRC |
T |
C |
exonic |
synonymous SNV |
HRC:NM_002152:exon1:c.A105G:p.L35L |
RS3745299 |
Gene expression of HRC [transcript
NM_002152, probe A_23_P142125] in liver:Comorbid depressive syndrome and
alcohol dependence:Gene expression of CGB7 (ENSG00000196337) in dendritic
cells treated with Mycobacterium tuberculosis:Gene expression of TRPM4 in
normal prepouch ileum:Gene expression change of PPFIA3 (ENSG00000177380) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
19 |
49950298 |
1 |
PIH1D1 |
C |
T |
exonic |
nonsynonymous SNV |
PIH1D1:NM_017916:exon7:c.G670A:p.V224I |
RS13394 |
LDL cholesterol:Gene expression of
ALDH16A1 (ENSG00000161618) in dendritic cells:Gene expression of ALDH16A1
(ENSG00000161618) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of RCN3 (ENSG00000142552) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of ALDH16A1 (probeID
ILMN_2051381) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ALDH16A1 (probeID ILMN_2051381) in cerebellum in
Alzheimer's disease cases and controls:Gene expression change of RCN3
(ENSG00000142552) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
19 |
49954803 |
1 |
PIH1D1 |
C |
T |
exonic |
nonsynonymous SNV |
PIH1D1:NM_017916:exon1:c.G29A:p.G10E |
RS2293013 |
Rheumatoid arthritis |
|
19 |
49954807 |
1 |
PIH1D1 |
T |
G |
exonic |
nonsynonymous SNV |
PIH1D1:NM_017916:exon1:c.A25C:p.M9L |
RS2293012 |
Prostate cancer |
|
19 |
49964977 |
1 |
ALDH16A1 |
C |
G |
exonic |
nonsynonymous SNV |
ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V,ALDH16A1:NM_153329:exon6:c.C679G:p.L227V |
RS1320303 |
LDL cholesterol:Gene expression of
PIH1D1 (ENSG00000104872) in dendritic cells treated with Mycobacterium
tuberculosis |
|
19 |
49965173 |
1 |
ALDH16A1 |
A |
T |
exonic |
synonymous SNV |
ALDH16A1:NM_153329:exon7:c.A792T:p.G264G |
|
19 |
50140092 |
2 |
RRAS |
G |
A |
exonic |
synonymous SNV |
RRAS:NM_006270:exon3:c.C333T:p.N111N |
RS1865077 |
Differential exon level expression
of RRAS [probe 3867971] in peripheral blood mononuclear cells:Premature
ovarian failure:Simpson-Angus Scale:HOMA-B:Microalbuminuria:Gene expression
of IRF3 in blood:Gene expression of NOSIP in blood:Paternal transmission
distortion:Transmission distortion |
|
19 |
50154904 |
2 |
SCAF1 |
A |
C |
exonic |
nonsynonymous SNV |
SCAF1:NM_021228:exon7:c.A1258C:p.T420P |
|
19 |
50156896 |
2 |
SCAF1 |
T |
C |
exonic |
synonymous SNV |
SCAF1:NM_021228:exon7:c.T3250C:p.L1084L |
|
19 |
50161091 |
1 |
SCAF1 |
A |
G |
exonic |
nonsynonymous SNV |
SCAF1:NM_021228:exon10:c.A3692G:p.K1231R |
|
19 |
50383591 |
2 |
TBC1D17 |
A |
G |
exonic |
nonsynonymous SNV |
TBC1D17:NM_001168222:exon3:c.A152G:p.D51G,TBC1D17:NM_024682:exon4:c.A251G:p.D84G |
|
19 |
50383636 |
1 |
TBC1D17 |
T |
C |
exonic |
nonsynonymous SNV |
TBC1D17:NM_001168222:exon3:c.T197C:p.L66P,TBC1D17:NM_024682:exon4:c.T296C:p.L99P |
RS3745486 |
Autism |
|
19 |
50411742 |
2 |
NUP62 |
A |
G |
exonic |
synonymous SNV |
NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D |
|
19 |
50412417 |
1 |
NUP62 |
G |
A |
exonic |
synonymous SNV |
NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S |
RS999583 |
Urinary albumin-to-creatinine ratio |
|
19 |
50435747 |
1 |
ATF5 |
T |
C |
exonic |
synonymous SNV |
ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_001290746:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L |
RS283525 |
Spine bone mineral density
(BMD):Stabilized warfarin dose:Serum creatinine:Gene expression of
PTOV1///PNKP in blood:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP) |
|
19 |
50726570 |
2 |
MYH14 |
G |
A |
exonic |
synonymous SNV |
MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A |
RS4801822 |
LDL cholesterol:Coronary artery
disease (CAD):Salmonella-induced pyroptosis |
|
19 |
50760716 |
2 |
MYH14 |
C |
G |
exonic |
synonymous SNV |
MYH14:NM_024729:exon16:c.C2082G:p.R694R,MYH14:NM_001077186:exon17:c.C2106G:p.R702R,MYH14:NM_001145809:exon18:c.C2205G:p.R735R |
RS378811 |
HOMA-IR:LDL cholesterol |
|
19 |
50762418 |
1 |
MYH14 |
A |
G |
exonic |
synonymous SNV |
MYH14:NM_024729:exon17:c.A2127G:p.P709P,MYH14:NM_001077186:exon18:c.A2151G:p.P717P,MYH14:NM_001145809:exon19:c.A2250G:p.P750P |
|
19 |
50796905 |
1 |
MYH14 |
G |
A |
exonic |
synonymous SNV |
MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S |
RS3745509 |
2 hour glucose:Obesity with early
age of onset (age >2):Mitral annular calcium |
|
19 |
50902196 |
1 |
POLD1 |
C |
T |
exonic |
nonsynonymous SNV |
POLD1:NM_001308632:exon1:c.C88T:p.R30W,POLD1:NM_001256849:exon2:c.C88T:p.R30W,POLD1:NM_002691:exon2:c.C88T:p.R30W |
|
19 |
51301395 |
1 |
C19orf48 |
C |
T |
exonic |
nonsynonymous SNV |
C19orf48:NM_001290150:exon3:c.G311A:p.G104E,C19orf48:NM_001290151:exon4:c.G311A:p.G104E,C19orf48:NM_001290152:exon4:c.G311A:p.G104E,C19orf48:NM_001290155:exon4:c.G311A:p.G104E,C19orf48:NM_032712:exon4:c.G311A:p.G104E,C19orf48:NM_199250:exon4:c.G311A:p.G104E,C19orf48:NM_001290153:exon5:c.G311A:p.G104E,C19orf48:NM_001290154:exon5:c.G311A:p.G104E,C19orf48:NM_199249:exon5:c.G311A:p.G104E,C19orf48:NM_001290149:exon6:c.G311A:p.G104E |
RS4801853 |
Gene expression of C19orf48 in
lymphoblastoid cell lines:LDL cholesterol:Gene expression of C19orf48 in CD4+
lymphocytes:Gene expression of C19orf48 in blood:Gene expression of ZNF473 in
normal prepouch ileum |
|
19 |
51301456 |
1 |
C19orf48 |
G |
A |
exonic |
nonsynonymous SNV |
C19orf48:NM_001290150:exon3:c.C250T:p.R84C,C19orf48:NM_001290151:exon4:c.C250T:p.R84C,C19orf48:NM_001290152:exon4:c.C250T:p.R84C,C19orf48:NM_001290155:exon4:c.C250T:p.R84C,C19orf48:NM_032712:exon4:c.C250T:p.R84C,C19orf48:NM_199250:exon4:c.C250T:p.R84C,C19orf48:NM_001290153:exon5:c.C250T:p.R84C,C19orf48:NM_001290154:exon5:c.C250T:p.R84C,C19orf48:NM_199249:exon5:c.C250T:p.R84C,C19orf48:NM_001290149:exon6:c.C250T:p.R84C |
RS4802741 |
Abnormal Involuntary Movement
Scale:LDL cholesterol change with statins:Gene expression of ZNF473 in normal
prepouch ileum |
|
19 |
51837171 |
1 |
VSIG10L |
A |
G |
exonic |
synonymous SNV |
VSIG10L:NM_001163922:exon9:c.T2448C:p.P816P |
RS7255306 |
Gene expression of CLDND2
(ENSG00000160318) in dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
51841417 |
1 |
VSIG10L |
C |
T |
exonic |
nonsynonymous SNV |
VSIG10L:NM_001163922:exon6:c.G1775A:p.R592Q |
|
19 |
51843808 |
1 |
VSIG10L |
C |
T |
exonic |
nonsynonymous SNV |
VSIG10L:NM_001163922:exon3:c.G1068A:p.M356I |
|
19 |
52714719 |
1 |
PPP2R1A |
C |
T |
exonic |
synonymous SNV |
PPP2R1A:NM_014225:exon4:c.C477T:p.S159S |
|
19 |
53086362 |
1 |
ZNF701 |
A |
T |
exonic |
synonymous SNV |
ZNF701:NM_018260:exon4:c.A1050T:p.G350G,ZNF701:NM_001172655:exon5:c.A1248T:p.G416G |
|
19 |
53270384 |
2 |
ZNF600 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF600:NM_198457:exon3:c.T625C:p.C209R,ZNF600:NM_001321867:exon4:c.T832C:p.C278R,ZNF600:NM_001321866:exon6:c.T832C:p.C278R |
RS1820128 |
Adiponectin levels:Refractive error |
|
19 |
53303527 |
2 |
ZNF28 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF28:NM_006969:exon4:c.T1571C:p.M524T |
|
19 |
53303705 |
2 |
ZNF28 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF28:NM_006969:exon4:c.A1393C:p.K465Q |
|
19 |
53454789 |
1 |
ZNF816 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF816:NM_001202456:exon4:c.T239A:p.I80N,ZNF816:NM_001202457:exon4:c.T239A:p.I80N,ZNF816:NM_001031665:exon5:c.T239A:p.I80N |
RS12459008 |
Barnes Akathisia Rating
Scale:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Lp-PLA2
mass:Rheumatoid arthritis:Gene expression of ZNF702 in peripheral blood
monocytes:Urinary albumin-to-creatinine ratio |
|
19 |
53958263 |
1 |
ZNF761;ZNF765-ZNF761 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I |
RS1984432 |
HDL cholesterol:Schizophrenia:HDL
cholesterol:Gene expression of TEP1 in peripheral blood monocytes:Gene
expression of FLJ16231 in CD4+ lymphocytes:Adiponectin levels:College
completion |
|
19 |
53959343 |
1 |
ZNF761;ZNF765-ZNF761 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF761:NM_001289951:exon6:c.G1582A:p.G528S,ZNF761:NM_001289952:exon6:c.G1582A:p.G528S,ZNF761:NM_001008401:exon7:c.G1582A:p.G528S,ZNF765-ZNF761:NM_001350496:exon14:c.G1582A:p.G528S |
RS2708742 |
LDL cholesterol:Gene expression of
RAB30 in peripheral blood monocytes |
|
19 |
54080144 |
2 |
ZNF331 |
A |
G |
exonic |
synonymous SNV |
ZNF331:NM_001253801:exon5:c.A330G:p.R110R,ZNF331:NM_001317113:exon5:c.A330G:p.R110R,ZNF331:NM_001317116:exon5:c.A330G:p.R110R,ZNF331:NM_001317119:exon5:c.A330G:p.R110R,ZNF331:NM_001317121:exon5:c.A330G:p.R110R,ZNF331:NM_001079906:exon6:c.A330G:p.R110R,ZNF331:NM_001079907:exon6:c.A330G:p.R110R,ZNF331:NM_001253799:exon6:c.A330G:p.R110R,ZNF331:NM_001253800:exon6:c.A330G:p.R110R,ZNF331:NM_001317114:exon6:c.A330G:p.R110R,ZNF331:NM_001317117:exon6:c.A330G:p.R110R,ZNF331:NM_001317118:exon6:c.A330G:p.R110R,ZNF331:NM_001253798:exon7:c.A330G:p.R110R,ZNF331:NM_001317115:exon7:c.A330G:p.R110R,ZNF331:NM_001317120:exon7:c.A330G:p.R110R,ZNF331:NM_018555:exon7:c.A330G:p.R110R |
RS8109631 |
Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy) |
|
19 |
54209387 |
2 |
|
19 |
54600232 |
2 |
OSCAR |
A |
C |
exonic |
nonsynonymous SNV |
OSCAR:NM_001282350:exon3:c.T257G:p.I86S,OSCAR:NM_133168:exon3:c.T257G:p.I86S,OSCAR:NM_001282349:exon4:c.T290G:p.I97S,OSCAR:NM_133169:exon4:c.T290G:p.I97S,OSCAR:NM_130771:exon5:c.T302G:p.I101S,OSCAR:NM_206818:exon5:c.T302G:p.I101S |
|
19 |
54649671 |
2 |
CNOT3 |
T |
C |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon9:c.T729C:p.P243P |
|
19 |
54652203 |
2 |
CNOT3 |
T |
C |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon11:c.T1215C:p.G405G |
RS43211 |
HDL cholesterol change with
statins:Cystatin C in serum:Triglycerides:Parkinson's disease |
|
19 |
54656709 |
1 |
CNOT3 |
A |
T |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon16:c.A2010T:p.T670T |
|
19 |
54672342 |
1 |
TMC4 |
C |
T |
exonic |
synonymous SNV |
TMC4:NM_001145303:exon4:c.G525A:p.V175V,TMC4:NM_144686:exon4:c.G507A:p.V169V |
|
19 |
54677759 |
2 |
MBOAT7 |
T |
C |
exonic |
synonymous SNV |
MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P |
|
19 |
54697079 |
2 |
TSEN34 |
C |
T |
exonic |
synonymous SNV |
TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_001282332:exon5:c.C795T:p.P265P,TSEN34:NM_001282333:exon5:c.C804T:p.P268P,TSEN34:NM_024075:exon5:c.C795T:p.P265P |
RS7595 |
Gene expression of IGSF21 in
Temporal cortex:Height change (cm/y) in children |
|
19 |
54966579 |
1 |
LENG8 |
C |
G |
exonic |
synonymous SNV |
LENG8:NM_052925:exon8:c.C858G:p.P286P |
RS889147 |
HOMA-B:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of LENG8 (ENSG00000167615) in
dendritic cells |
|
19 |
55559715 |
2 |
RDH13 |
G |
A |
exonic |
synonymous SNV |
RDH13:NM_001145971:exon5:c.C640T:p.L214L,RDH13:NM_138412:exon6:c.C427T:p.L143L |
RS2305543 |
Cystatin C in serum:Late onset
Alzheimer's disease:Gene expression change of EPS8L1 (ENSG00000131037) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
19 |
55570574 |
2 |
RDH13 |
A |
G |
exonic |
synonymous SNV |
RDH13:NM_001145971:exon2:c.T135C:p.G45G |
RS1654447 |
Waist hip ratio:Gene expression of
NLRP2 (probeID ILMN_1664878) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of EPS8L1 (probeID ILMN_1671600) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of GP6 (probeID
ILMN_2223772) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of NLRP2 (probeID ILMN_1664878) in temporal cortex
in Alzheimer's disease cases |
|
19 |
55614923 |
1 |
PPP1R12C |
T |
C |
exonic |
synonymous SNV |
PPP1R12C:NM_001271618:exon4:c.A585G:p.E195E,PPP1R12C:NM_017607:exon4:c.A585G:p.E195E |
RS2532060 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of SYT5 [transcript NM_003180, probe
A_24_P373877] in liver:Advanced age-related macular degeneration (geographic
atrophy) |
|
19 |
55624113 |
1 |
PPP1R12C |
G |
A |
exonic |
synonymous SNV |
PPP1R12C:NM_001271618:exon2:c.C372T:p.G124G,PPP1R12C:NM_017607:exon2:c.C372T:p.G124G |
|
19 |
55699454 |
2 |
PTPRH |
T |
C |
exonic |
nonsynonymous SNV |
PTPRH:NM_001161440:exon11:c.A1933G:p.K645E,PTPRH:NM_002842:exon13:c.A2467G:p.K823E |
|
19 |
55708508 |
1 |
PTPRH |
G |
T |
exonic |
nonsynonymous SNV |
PTPRH:NM_001161440:exon7:c.C1433A:p.T478K,PTPRH:NM_002842:exon9:c.C1967A:p.T656K |
|
19 |
55708557 |
1 |
PTPRH |
A |
G |
exonic |
synonymous SNV |
PTPRH:NM_001161440:exon7:c.T1384C:p.L462L,PTPRH:NM_002842:exon9:c.T1918C:p.L640L |
RS2288521 |
Lung function, forced expiratory
volume in 1 second (FEV1):HDL cholesterol:Total cholesterol:Total cholesterol
change with statins:Gene expression of TNNT1 in peripheral blood
monocytes:Urinary albumin-to-creatinine ratio:Microalbuminuria:Aortic valve
calcium |
|
19 |
55713535 |
1 |
PTPRH |
G |
A |
exonic |
nonsynonymous SNV |
PTPRH:NM_001161440:exon4:c.C508T:p.H170Y,PTPRH:NM_002842:exon6:c.C1042T:p.H348Y |
|
19 |
55715319 |
1 |
PTPRH |
C |
G |
exonic |
synonymous SNV |
PTPRH:NM_002842:exon5:c.G717C:p.S239S |
RS9304763 |
Infant head circumference |
|
19 |
55716800 |
1 |
PTPRH |
A |
G |
exonic |
synonymous SNV |
PTPRH:NM_002842:exon4:c.T513C:p.T171T |
RS2288516 |
HDL cholesterol |
|
19 |
55738634 |
2 |
TMEM86B |
T |
C |
exonic |
nonsynonymous SNV |
TMEM86B:NM_173804:exon3:c.A596G:p.H199R |
RS4644955 |
Irritible bowel
syndrome:Longstanding arthritis:HDL cholesterol:Triglycerides change with
statins:Urinary albumin-to-creatinine ratio:Gene expression of TMEM86B in
blood:Primary rhegmatogenous retinal detachment:Birth weight |
|
19 |
55739689 |
1 |
TMEM86B |
G |
A |
exonic |
synonymous SNV |
TMEM86B:NM_173804:exon2:c.C168T:p.P56P |
|
19 |
55913038 |
1 |
UBE2S |
C |
T |
exonic |
synonymous SNV |
UBE2S:NM_014501:exon4:c.G435A:p.A145A |
|
19 |
55964720 |
1 |
ISOC2 |
G |
A |
exonic |
synonymous SNV |
ISOC2:NM_001136202:exon5:c.C363T:p.S121S,ISOC2:NM_001136201:exon6:c.C573T:p.S191S,ISOC2:NM_024710:exon6:c.C621T:p.S207S |
RS2303089 |
Adiponectin levels |
|
19 |
56041255 |
2 |
SBK2 |
C |
G |
exonic |
nonsynonymous SNV |
SBK2:NM_001101401:exon4:c.G892C:p.A298P |
|
19 |
56047448 |
2 |
SBK2 |
A |
G |
exonic |
nonsynonymous SNV |
SBK2:NM_001101401:exon2:c.T214C:p.C72R |
RS310453 |
Rheumatoid arthritis:Urinary
albumin-to-creatinine ratio |
|
19 |
56090524 |
1 |
ZNF579 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF579:NM_152600:exon2:c.C482T:p.A161V |
|
19 |
56104136 |
1 |
FIZ1 |
T |
C |
exonic |
nonsynonymous SNV |
FIZ1:NM_032836:exon3:c.A1171G:p.T391A |
|
19 |
56114045 |
1 |
ZNF524 |
C |
T |
exonic |
synonymous SNV |
ZNF524:NM_153219:exon2:c.C567T:p.H189H |
|
19 |
56114237 |
1 |
ZNF524 |
G |
A |
exonic |
synonymous SNV |
ZNF524:NM_153219:exon2:c.G759A:p.E253E |
|
19 |
56154339 |
1 |
ZNF580 |
C |
T |
exonic |
synonymous SNV |
ZNF580:NM_016202:exon1:c.C465T:p.C155C,ZNF580:NM_001163423:exon2:c.C465T:p.C155C,ZNF580:NM_207115:exon2:c.C465T:p.C155C |
|
19 |
56162776 |
2 |
CCDC106 |
C |
T |
exonic |
synonymous SNV |
CCDC106:NM_013301:exon5:c.C441T:p.S147S |
RS2287791 |
Rheumatoid arthritis:Obesity with
early age of onset (age >2):Infant head circumference:Mitral annular
calcium |
|
19 |
56180968 |
2 |
U2AF2 |
C |
T |
exonic |
synonymous SNV |
U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D |
RS617073 |
Major depressive
disorder:Rheumatoid arthritis:Infant head circumference:Obesity with early
age of onset (age >2):Mitral annular calcium |
|
19 |
56658422 |
1 |
ZNF444 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF444:NM_001253792:exon3:c.T142C:p.W48R,ZNF444:NM_018337:exon3:c.T142C:p.W48R |
|
19 |
56733460 |
1 |
ZSCAN5A |
C |
T |
exonic |
synonymous SNV |
ZSCAN5A:NM_001322077:exon5:c.G624A:p.P208P,ZSCAN5A:NM_001322078:exon5:c.G585A:p.P195P,ZSCAN5A:NM_001322062:exon6:c.G1131A:p.P377P,ZSCAN5A:NM_001322064:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322065:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322066:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322067:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322068:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322069:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322070:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322073:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322074:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322075:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322076:exon6:c.G972A:p.P324P,ZSCAN5A:NM_024303:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322061:exon7:c.G1131A:p.P377P,ZSCAN5A:NM_001322072:exon7:c.G975A:p.P325P |
|
19 |
57325083 |
2 |
PEG3 |
C |
T |
exonic |
nonsynonymous SNV |
PEG3:NM_001146186:exon7:c.G4727A:p.R1576H,PEG3:NM_001146184:exon9:c.G4727A:p.R1576H,PEG3:NM_001146185:exon9:c.G4349A:p.R1450H,PEG3:NM_001146187:exon9:c.G4355A:p.R1452H,PEG3:NM_006210:exon10:c.G4727A:p.R1576H |
|
19 |
57326721 |
2 |
PEG3 |
C |
T |
exonic |
nonsynonymous SNV |
PEG3:NM_001146186:exon7:c.G3089A:p.R1030Q,PEG3:NM_001146184:exon9:c.G3089A:p.R1030Q,PEG3:NM_001146185:exon9:c.G2711A:p.R904Q,PEG3:NM_001146187:exon9:c.G2717A:p.R906Q,PEG3:NM_006210:exon10:c.G3089A:p.R1030Q |
|
19 |
57672031 |
2 |
DUXA |
T |
C |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A160G:p.T54A |
|
19 |
57672039 |
2 |
DUXA |
T |
G |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A152C:p.E51A |
|
19 |
57672080 |
2 |
DUXA |
C |
T |
exonic |
synonymous SNV |
DUXA:NM_001012729:exon2:c.G111A:p.K37K |
|
19 |
57672087 |
2 |
DUXA |
T |
G |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A104C:p.N35T |
|
19 |
57868336 |
2 |
ZNF304 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E |
RS862709 |
Urinary albumin-to-creatinine
ratio:Parkinson's disease |
|
19 |
57909872 |
2 |
ZNF548 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF548:NM_152909:exon3:c.G217A:p.A73T,ZNF548:NM_001172773:exon4:c.G253A:p.A85T |
RS4801478 |
Body mass index (BMI):Mitral annular
calcium |
|
19 |
58058536 |
2 |
ZNF550 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF550:NM_001277090:exon4:c.T1076C:p.I359T,ZNF550:NM_001277091:exon4:c.T1076C:p.I359T,ZNF550:NM_001277092:exon4:c.T1076C:p.I359T |
RS1548476 |
Stabilized warfarin dose:LDL
cholesterol:Rheumatoid arthritis:Gene expression of ZNF773 in blood:Gene
expression of ZNF586 in blood:Sporadic Creutzfeldt-Jakob disease:Obesity with
early age of onset (age >2):Gene expression change of ZIK1 (ENSG00000171649)
in dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of ZNF773 in normal prepouch ileum:Primary rhegmatogenous retinal
detachment:Gene expression of ZIK1 (ENSG00000171649) in dendritic cells
treated with Mycobacterium tuberculosis |
|
19 |
58058739 |
2 |
ZNF550 |
T |
C |
exonic |
synonymous SNV |
ZNF550:NM_001277090:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277091:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277092:exon4:c.A873G:p.Q291Q |
RS10410631 |
Total cholesterol:Gene expression
of DUSP6 in peripheral blood monocytes:Gene expression of ZNF772 in
peripheral blood monocytes:Gene expression of ZNF551 [transcript NM_138347,
probe A_24_P68019] in liver:Resistance to kuru in aged women despite likely exposure |
|
19 |
58319697 |
1 |
ZNF552 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF552:NM_024762:exon3:c.T935C:p.I312T |
|
19 |
58319706 |
1 |
ZNF552 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF552:NM_024762:exon3:c.A926G:p.Y309C |
|
19 |
58718269 |
1 |
ZNF274 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS7256349 |
2 hour glucose:Fasting blood
glucose:HDL cholesterol:HDL cholesterol:Gene expression of ZNF544 in
blood:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:College completion |
|
19 |
58774071 |
2 |
ZNF544 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF544:NM_001320770:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320771:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320773:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320767:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320769:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320774:exon7:c.A1394G:p.Q465R,ZNF544:NM_014480:exon7:c.A2099G:p.Q700R |
RS260462 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Eye color:Gene expression of ZNF544
[probe 3843848] in peripheral blood mononuclear cells:Differential exon level
expression of ZNF544 [probe 3843868] in peripheral blood mononuclear cells:Differential
exon level expression of ZNF544 [probe 3843868] in brain cortex:HDL
cholesterol change with statins:HDL cholesterol:Asthma:Gene expression of
ZSCAN18 in blood:Gene expression of ZNF544 in blood:Gene expression of ZNF329
in blood:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum in
non-Alzheimer's disease samples:Gene expression of ZNF544 (probeID
ILMN_2052079) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of ZNF544 (probeID ILMN_2052079) in cerebellum in Alzheimer's
disease cases:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum
in Alzheimer's disease cases and controls:Birth weight:Gene expression of
ZNF544 (probeID ILMN_2052079) in temporal cortex in Alzheimer's disease cases
and controls:Acute lung injury following major trauma |
|
19 |
58864479 |
1 |
A1BG |
T |
C |
exonic |
nonsynonymous SNV |
A1BG:NM_130786:exon3:c.A155G:p.H52R |
RS893184 |
Fasting blood glucose:Urinary
albumin-to-creatinine ratio:Gene expression of AC010642.5 in blood:Gene
expression of ZNF324 in blood:Gene expression of ZNF497 [probeset
230857_s_at] in sputum:Gene expression of NCRNA00181 [probeset 232462_s_at]
in sputum:Transmission distortion |
|
19 |
58982384 |
2 |
ZNF324 |
A |
G |
exonic |
synonymous SNV |
ZNF324:NM_014347:exon4:c.A525G:p.R175R |
|
19 |
118678364 |
2 |
|
19 |
148681299 |
2 |
|
19 |
153284192 |
2 |
|
20 |
278515 |
2 |
ZCCHC3 |
T |
C |
exonic |
synonymous SNV |
ZCCHC3:NM_033089:exon1:c.T288C:p.D96D |
|
20 |
279185 |
1 |
ZCCHC3 |
C |
T |
exonic |
synonymous SNV |
ZCCHC3:NM_033089:exon1:c.C958T:p.L320L |
|
20 |
371972 |
1 |
TRIB3 |
T |
C |
exonic |
synonymous SNV |
TRIB3:NM_001301188:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301190:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301193:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301196:exon3:c.T333C:p.Y111Y,TRIB3:NM_021158:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301201:exon4:c.T414C:p.Y138Y |
RS6051637 |
Birth weight |
|
20 |
377226 |
1 |
TRIB3 |
C |
T |
exonic |
synonymous SNV |
TRIB3:NM_001301188:exon4:c.C969T:p.A323A,TRIB3:NM_001301190:exon4:c.C969T:p.A323A,TRIB3:NM_001301193:exon4:c.C969T:p.A323A,TRIB3:NM_001301196:exon4:c.C969T:p.A323A,TRIB3:NM_021158:exon4:c.C969T:p.A323A,TRIB3:NM_001301201:exon5:c.C1050T:p.A350A |
RS6115830 |
Comorbid depressive syndrome and
alcohol dependence:Resistance to kuru in aged women despite likely exposure |
|
20 |
825678 |
2 |
FAM110A |
T |
C |
exonic |
synonymous SNV |
FAM110A:NM_031424:exon1:c.T231C:p.F77F,FAM110A:NM_001042353:exon2:c.T231C:p.F77F,FAM110A:NM_001289146:exon2:c.T231C:p.F77F,FAM110A:NM_001289147:exon2:c.T231C:p.F77F,FAM110A:NM_207121:exon2:c.T231C:p.F77F,FAM110A:NM_001289145:exon3:c.T231C:p.F77F |
|
20 |
1099523 |
2 |
PSMF1 |
T |
G |
exonic |
nonsynonymous SNV |
PSMF1:NM_001323408:exon1:c.T107G:p.F36C,PSMF1:NM_001323409:exon1:c.T107G:p.F36C,PSMF1:NM_001323410:exon1:c.T107G:p.F36C,PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C |
RS1803415 |
Differential exon level expression
of PSMF1 [probe 3873394] in peripheral blood mononuclear cells:Late onset
Alzheimer's disease:Parkinson's disease |
|
20 |
1108122 |
1 |
PSMF1 |
C |
T |
exonic |
synonymous SNV |
PSMF1:NM_001323407:exon3:c.C72T:p.I24I,PSMF1:NM_001323408:exon3:c.C336T:p.I112I,PSMF1:NM_001323409:exon3:c.C336T:p.I112I,PSMF1:NM_001323410:exon3:c.C336T:p.I112I,PSMF1:NM_006814:exon3:c.C336T:p.I112I,PSMF1:NM_178578:exon4:c.C336T:p.I112I |
|
20 |
1293046 |
1 |
SDCBP2 |
G |
A |
exonic |
nonsynonymous SNV |
SDCBP2:NM_015685:exon3:c.C412T:p.R138C,SDCBP2:NM_001199784:exon7:c.C667T:p.R223C,SDCBP2:NM_080489:exon7:c.C667T:p.R223C |
RS1048621 |
Gene expression of SDCBP2 [probe
3894545] in peripheral blood mononuclear cells:Total cholesterol:Partial
epilepsy:Gene expression of NSFL1C in blood:Gene expression of [probe 650554
centered at chr20:1364589] in blood:Hypertension (early onset hypertension):Birth
weight:Tetrology of fallot:Gene expression of SDCBP2 (probeID ILMN_2376822)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of SDCBP2 (probeID ILMN_2376822) in cerebellum in Alzheimer's disease cases
and controls |
|
20 |
1293107 |
1 |
SDCBP2 |
G |
A |
exonic |
synonymous SNV |
SDCBP2:NM_015685:exon3:c.C351T:p.H117H,SDCBP2:NM_001199784:exon7:c.C606T:p.H202H,SDCBP2:NM_080489:exon7:c.C606T:p.H202H |
|
20 |
1293247 |
2 |
SDCBP2 |
C |
T |
exonic |
nonsynonymous SNV |
SDCBP2:NM_015685:exon2:c.G289A:p.V97M,SDCBP2:NM_001199784:exon6:c.G544A:p.V182M,SDCBP2:NM_080489:exon6:c.G544A:p.V182M |
RS2273959 |
Autism:Gene expression of [probe
650554 centered at chr20:1364589] in blood:Gene expression of SDCBP2 (probeID
ILMN_2376822) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of SDCBP2 (probeID ILMN_2376822) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of SDCBP2 (probeID ILMN_2376822)
in temporal cortex in Alzheimer's disease cases:Transmission distortion:Gene
expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in non-Alzheimer's
disease samples:Gene expression of SDCBP2 (probeID ILMN_2376822) in temporal
cortex in Progressive Supranuclear Palsy cases:Maternal transmission
distortion:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in
Alzheimer's disease cases and controls:Tetrology of fallot:Gene expression of
SDCBP2 (probeID ILMN_2376822) in cerebellum in Alzheimer's disease cases |
|
20 |
1350709 |
2 |
FKBP1A |
T |
C |
exonic |
synonymous SNV |
FKBP1A:NM_001199786:exon4:c.A258G:p.P86P |
RS8392 |
PROP taste detection threshold:Gene
expression of FKBP1A (ENSG00000088832) in dendritic cells:Gene expression of
FKBP1A (ENSG00000088832) in dendritic cells treated with Mycobacterium
tuberculosis |
|
20 |
1426393 |
1 |
NSFL1C |
C |
T |
exonic |
nonsynonymous SNV |
NSFL1C:NM_018839:exon7:c.G775A:p.D259N,NSFL1C:NM_016143:exon8:c.G868A:p.D290N |
RS9575 |
Barnes Akathisia Rating
Scale:HOMA-IR:Gene expression of NSFL1C in Temporal cortex:Gene expression of
NSFL1C in Cerebellum:Gene expression of NSFL1C in Caudal pons:Gene expression
of NSFL1C in Frontal cortex:Body mass index (BMI):Gene expression of NSFL1C
[transcript NM_182483, probe A_23_P210719] in liver:Gene expression of NSFL1C
(probeID ILMN_2366719) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of NSFL1C (probeID ILMN_2366719) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of NSFL1C (probeID
ILMN_1657624) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of NSFL1C (probeID ILMN_1657624) in temporal cortex in Alzheimer's
disease cases and controls |
|
20 |
2464353 |
1 |
ZNF343 |
A |
G |
exonic |
synonymous SNV |
ZNF343:NM_001282498:exon4:c.T984C:p.F328F,ZNF343:NM_001282496:exon6:c.T1254C:p.F418F,ZNF343:NM_001321800:exon6:c.T1254C:p.F418F,ZNF343:NM_001321805:exon6:c.T1251C:p.F417F,ZNF343:NM_024325:exon6:c.T1254C:p.F418F,ZNF343:NM_001282495:exon7:c.T1254C:p.F418F,ZNF343:NM_001282497:exon7:c.T1377C:p.F459F,ZNF343:NM_001321801:exon7:c.T1377C:p.F459F,ZNF343:NM_001321802:exon7:c.T1374C:p.F458F,ZNF343:NM_001321803:exon7:c.T1374C:p.F458F |
|
20 |
2633936 |
2 |
NOP56 |
T |
C |
exonic |
synonymous SNV |
NOP56:NM_006392:exon3:c.T105C:p.S35S |
|
20 |
2816821 |
1 |
PCED1A |
C |
T |
exonic |
synonymous SNV |
PCED1A:NM_001271168:exon7:c.G828A:p.P276P,PCED1A:NM_022760:exon7:c.G981A:p.P327P |
|
20 |
2846052 |
1 |
VPS16 |
T |
C |
exonic |
nonsynonymous SNV |
VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R |
|
20 |
3147762 |
2 |
LZTS3 |
A |
G |
exonic |
synonymous SNV |
LZTS3:NM_001282533:exon3:c.T48C:p.D16D |
|
20 |
3171337 |
1 |
DDRGK1 |
C |
T |
exonic |
nonsynonymous SNV |
DDRGK1:NM_023935:exon9:c.G907A:p.A303T |
RS11591 |
Infant head circumference |
|
20 |
3210301 |
1 |
SLC4A11 |
G |
A |
exonic |
synonymous SNV |
SLC4A11:NM_032034:exon13:c.C1659T:p.N553N,SLC4A11:NM_001174089:exon14:c.C1611T:p.N537N,SLC4A11:NM_001174090:exon14:c.C1740T:p.N580N |
|
20 |
3211235 |
1 |
SLC4A11 |
C |
T |
exonic |
synonymous SNV |
SLC4A11:NM_032034:exon11:c.G1389A:p.T463T,SLC4A11:NM_001174089:exon12:c.G1341A:p.T447T,SLC4A11:NM_001174090:exon12:c.G1470A:p.T490T |
RS6084312 |
Eye color:Stabilized warfarin
dose:Gene expression of C20orf116 in blood:Cognitive response to topiramate
treatment as measured by the Controlled Oral Word Association cognitive test |
|
20 |
3214819 |
2 |
SLC4A11 |
T |
G |
exonic |
synonymous SNV |
SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R |
RS3827075 |
Rheumatoid arthritis:HDL
cholesterol change with statins:Methylation levels at chr20:3166095-3166145
[hg18 coord, probe cg08284598] in Cerebellum:Gene expression of C20orf116 in
blood:Gene expression of UBOX5 in blood:Cognitive response to topiramate treatment
as measured by the Animals cognitive test:Bipolar disorder |
|
20 |
3218634 |
2 |
SLC4A11 |
G |
C |
exonic |
nonsynonymous SNV |
SLC4A11:NM_001174090:exon1:c.C77G:p.P26R |
|
20 |
3285126 |
1 |
C20orf194 |
A |
T |
exonic |
synonymous SNV |
C20orf194:NM_001009984:exon21:c.T1743A:p.I581I |
RS2254916 |
Rheumatoid arthritis:Infant head
circumference |
|
20 |
3285140 |
2 |
C20orf194 |
T |
C |
exonic |
nonsynonymous SNV |
C20orf194:NM_001009984:exon21:c.A1729G:p.R577G |
RS2422864 |
Major depressive disorder:Fasting
blood glucose:Serum creatinine:Chronic kidney
disease:Asthma:Microalbuminuria:Urinary albumin-to-creatinine ratio:Suicide
attempts in bipolar disorder:PROP taste detection threshold:Bipolar disorder |
|
20 |
3546058 |
1 |
ATRN |
A |
G |
exonic |
nonsynonymous SNV |
ATRN:NM_001207047:exon11:c.A1502G:p.H501R,ATRN:NM_001323332:exon11:c.A1850G:p.H617R,ATRN:NM_139321:exon11:c.A1850G:p.H617R,ATRN:NM_139322:exon11:c.A1850G:p.H617R |
|
20 |
3564672 |
2 |
ATRN |
C |
T |
exonic |
synonymous SNV |
ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_001323332:exon17:c.C2892T:p.Y964Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y |
RS235540 |
Aortic valve calcium:Mitral annular
calcium |
|
20 |
3624830 |
1 |
ATRN |
G |
A |
exonic |
synonymous SNV |
ATRN:NM_139321:exon28:c.G4080A:p.P1360P |
RS2246808 |
Mitral annular calcium:Parkinson's
disease |
|
20 |
3838441 |
1 |
MAVS |
C |
G |
exonic |
nonsynonymous SNV |
MAVS:NM_020746:exon3:c.C277G:p.Q93E |
|
20 |
3843027 |
1 |
MAVS |
C |
A |
exonic |
nonsynonymous SNV |
MAVS:NM_001206491:exon4:c.C169A:p.Q57K,MAVS:NM_020746:exon5:c.C592A:p.Q198K |
RS7262903 |
Gene expression of KIAA1271 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SNORD22 in
peripheral blood monocytes:Gene expression of VISA in peripheral blood
monocytes:Gene expression of KIAA1271 [probe ILMN_138982] in osteoblasts
treated with PGE2:Gene expression of MAVS [transcript NM_020746, probe
A_24_P928798] in liver:Gene expression of RP11-119B16.1 in blood:Gene
expression of PANK2 in blood |
|
20 |
3846397 |
1 |
MAVS |
C |
T |
exonic |
nonsynonymous SNV |
MAVS:NM_001206491:exon6:c.C803T:p.S268F,MAVS:NM_020746:exon7:c.C1226T:p.S409F |
RS7269320 |
Fasting blood glucose:Gene
expression of SNORD22 in peripheral blood monocytes:Gene expression of VISA
in peripheral blood monocytes:1-Methylnicotinamide:cis-Aconitate:Gene
expression of RP11-119B16.1 in blood:Gene expression of PANK2 in blood |
|
20 |
3870124 |
1 |
PANK2 |
G |
C |
exonic |
nonsynonymous SNV |
PANK2:NM_001324192:exon1:c.G377C:p.G126A,PANK2:NM_153638:exon1:c.G377C:p.G126A |
|
20 |
4163302 |
1 |
SMOX |
A |
G |
exonic |
synonymous SNV |
SMOX:NM_001270691:exon5:c.A1176G:p.A392A,SMOX:NM_175839:exon5:c.A1176G:p.A392A,SMOX:NM_175840:exon6:c.A1017G:p.A339A,SMOX:NM_175842:exon6:c.A1017G:p.A339A |
RS1051904 |
Fasting insulin:HOMA-IR:HDL
cholesterol:Adiponectin levels |
|
20 |
4164283 |
1 |
SMOX |
A |
G |
exonic |
synonymous SNV |
SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T |
RS1741327 |
Differential exon level expression
of SMOX [probe 3874654] in brain cortex:Gene expression of SMOX in
blood:Adiponectin levels |
|
20 |
4680251 |
1 |
PRNP |
A |
G |
exonic |
nonsynonymous SNV |
PRNP:NM_000311:exon2:c.A385G:p.M129V,PRNP:NM_001080121:exon2:c.A385G:p.M129V,PRNP:NM_001080122:exon2:c.A385G:p.M129V,PRNP:NM_001080123:exon2:c.A385G:p.M129V,PRNP:NM_183079:exon2:c.A385G:p.M129V |
RS1799990 |
Variant Creutzfeldt-Jakob
disease:Resistance to kuru despite exposure:Kuru incubation:Sporadic
Creutzfeldt-Jakob disease:Iatrogenic Creutzfeldt-Jakob disease:Waist hip
ratio:Gene expression of PRNP in blood:Variant Creutzfeldt-Jakob
disease:Sporadic Creutzfeldt-Jakob disease:College completion:Years of
education:Birth weight |
|
20 |
4843470 |
1 |
SLC23A2 |
C |
A |
exonic |
synonymous SNV |
SLC23A2:NM_005116:exon14:c.G1440T:p.A480A,SLC23A2:NM_203327:exon14:c.G1440T:p.A480A |
|
20 |
6100088 |
1 |
FERMT1 |
A |
G |
exonic |
synonymous SNV |
FERMT1:NM_017671:exon2:c.T114C:p.H38H |
RS10373 |
Alzheimer's disease:Childhood acute
lymphoblastic leukemia:HDL cholesterol change with statins:Chronic kidney
disease:Serum creatinine |
|
20 |
8755243 |
1 |
PLCB1 |
T |
C |
exonic |
synonymous SNV |
PLCB1:NM_015192:exon27:c.T2988C:p.A996A,PLCB1:NM_182734:exon27:c.T2988C:p.A996A |
|
20 |
10019093 |
1 |
ANKEF1 |
A |
G |
exonic |
synonymous SNV |
ANKEF1:NM_198798:exon2:c.A144G:p.G48G,ANKEF1:NM_022096:exon3:c.A144G:p.G48G |
RS575534 |
Childhood acute lymphoblastic
leukemia |
|
20 |
10030188 |
1 |
ANKEF1 |
T |
A |
exonic |
nonsynonymous SNV |
ANKEF1:NM_198798:exon6:c.T971A:p.L324Q,ANKEF1:NM_001303472:exon7:c.T404A:p.L135Q,ANKEF1:NM_022096:exon7:c.T971A:p.L324Q |
RS652633 |
Lp-PLA2 mass:HDL cholesterol:Years
of education |
|
20 |
10032413 |
1 |
ANKEF1 |
T |
G |
exonic |
synonymous SNV |
ANKEF1:NM_198798:exon7:c.T1746G:p.A582A,ANKEF1:NM_001303472:exon8:c.T1179G:p.A393A,ANKEF1:NM_022096:exon8:c.T1746G:p.A582A |
RS683145 |
HDL cholesterol:Years of education |
|
20 |
10386013 |
1 |
MKKS |
C |
A |
exonic |
nonsynonymous SNV |
MKKS:NM_018848:exon6:c.G1595T:p.G532V,MKKS:NM_170784:exon6:c.G1595T:p.G532V |
RS1545 |
Rheumatoid arthritis:Arthritis
including non-Rheumatoid:Neuroblastoma (brain cancer):Gene expression of MKKS
in blood:Diastolic blood pressure (DBP):Refractive error:College completion |
|
20 |
10386059 |
1 |
MKKS |
G |
A |
exonic |
nonsynonymous SNV |
MKKS:NM_018848:exon6:c.C1549T:p.R517C,MKKS:NM_170784:exon6:c.C1549T:p.R517C |
RS1547 |
Rheumatoid arthritis:Arthritis
including non-Rheumatoid:Neuroblastoma (brain cancer):Gene expression of MKKS
in blood:Diastolic blood pressure (DBP):Refractive error |
|
20 |
10393629 |
1 |
MKKS |
G |
A |
exonic |
synonymous SNV |
MKKS:NM_018848:exon3:c.C534T:p.I178I,MKKS:NM_170784:exon3:c.C534T:p.I178I |
|
20 |
10394046 |
1 |
MKKS |
G |
A |
exonic |
synonymous SNV |
MKKS:NM_018848:exon3:c.C117T:p.P39P,MKKS:NM_170784:exon3:c.C117T:p.P39P |
RS16991547 |
Plasma aldosterone concentration
corrected by plasma renin activity:Neuroblastoma (brain cancer):Diastolic
blood pressure (DBP):Refractive error |
|
20 |
10620275 |
1 |
JAG1 |
G |
A |
exonic |
synonymous SNV |
JAG1:NM_000214:exon26:c.C3528T:p.Y1176Y |
RS1051421 |
Serum creatinine:Cystatin C in
serum:Partial epilepsy:Total cholesterol:LDL cholesterol:Gene expression of
C20orf94 in CD4+ lymphocytes:Refractive error:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:College completion |
|
20 |
10620386 |
1 |
JAG1 |
A |
G |
exonic |
synonymous SNV |
JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y |
RS1051419 |
Lumbar spine bone mineral density
(BMD):Cystatin C in serum:Serum creatinine:Diastolic blood pressure
(DBP):Infant head circumference |
|
20 |
13053018 |
2 |
SPTLC3 |
T |
G |
exonic |
nonsynonymous SNV |
SPTLC3:NM_018327:exon3:c.T418G:p.L140V,SPTLC3:NM_001349945:exon4:c.T418G:p.L140V |
RS243887 |
Obesity with early age of onset
(age >2):Hypertension (early onset hypertension):Maternal transmission
distortion |
|
20 |
13053035 |
2 |
SPTLC3 |
A |
G |
exonic |
synonymous SNV |
SPTLC3:NM_018327:exon3:c.A435G:p.S145S,SPTLC3:NM_001349945:exon4:c.A435G:p.S145S |
RS243888 |
Hypertension (early onset
hypertension):Obesity with early age of onset (age >2) |
|
20 |
13134768 |
1 |
SPTLC3 |
T |
C |
exonic |
synonymous SNV |
SPTLC3:NM_018327:exon10:c.T1398C:p.Y466Y,SPTLC3:NM_001349945:exon11:c.T1398C:p.Y466Y |
RS6078938 |
Irritible bowel syndrome:2 hour
glucose:Total cholesterol:Aortic valve calcium:Docetaxel-induced
neutropenia/leukopenia in cancer patients |
|
20 |
13140720 |
1 |
SPTLC3 |
G |
A |
exonic |
nonsynonymous SNV |
SPTLC3:NM_018327:exon11:c.G1486A:p.A496T,SPTLC3:NM_001349945:exon12:c.G1486A:p.A496T |
|
20 |
13695607 |
1 |
ESF1 |
T |
G |
exonic |
nonsynonymous SNV |
ESF1:NM_001276380:exon14:c.A2470C:p.I824L,ESF1:NM_016649:exon14:c.A2470C:p.I824L |
|
20 |
13747441 |
1 |
ESF1 |
A |
G |
exonic |
nonsynonymous SNV |
ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T |
RS3180370 |
HDL cholesterol change with
statins:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob
disease:Adiponectin levels:Years of education:Salmonella-induced
pyroptosis:Tetrology of fallot |
|
20 |
16410559 |
1 |
KIF16B |
A |
T |
exonic |
synonymous SNV |
KIF16B:NM_001199865:exon13:c.T1371A:p.I457I,KIF16B:NM_001199866:exon13:c.T1371A:p.I457I,KIF16B:NM_024704:exon13:c.T1371A:p.I457I |
|
20 |
17600357 |
2 |
RRBP1 |
G |
A |
exonic |
nonsynonymous SNV |
RRBP1:NM_004587:exon19:c.C2297T:p.S766L,RRBP1:NM_001042576:exon20:c.C2297T:p.S766L |
RS11960 |
Differential exon level expression
of RRBP1 [probe 3899201] in peripheral blood mononuclear cells:Tetrology of
fallot |
|
20 |
17605240 |
2 |
RRBP1 |
A |
T |
exonic |
nonsynonymous SNV |
RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H |
|
20 |
18143117 |
2 |
KAT14 |
T |
G |
exonic |
nonsynonymous SNV |
KAT14:NM_020536:exon6:c.T1199G:p.V400G |
|
20 |
18167977 |
2 |
KAT14 |
T |
C |
exonic |
synonymous SNV |
KAT14:NM_020536:exon10:c.T2223C:p.P741P |
|
20 |
18296072 |
2 |
ZNF133 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T |
|
20 |
18462421 |
2 |
POLR3F |
A |
G |
exonic |
synonymous SNV |
POLR3F:NM_001282526:exon8:c.A717G:p.T239T,POLR3F:NM_006466:exon8:c.A840G:p.T280T |
RS1055171 |
Birth weight |
|
20 |
18513350 |
1 |
SEC23B |
G |
A |
exonic |
nonsynonymous SNV |
SEC23B:NM_001172745:exon11:c.G1276A:p.V426I,SEC23B:NM_001172746:exon11:c.G1222A:p.V408I,SEC23B:NM_006363:exon11:c.G1276A:p.V426I,SEC23B:NM_032985:exon11:c.G1276A:p.V426I,SEC23B:NM_032986:exon11:c.G1276A:p.V426I |
|
20 |
20493222 |
1 |
RALGAPA2 |
G |
A |
exonic |
synonymous SNV |
RALGAPA2:NM_020343:exon32:c.C4791T:p.P1597P |
|
20 |
21142813 |
1 |
KIZ |
T |
C |
exonic |
unknown |
UNKNOWN |
RS2236178 |
LDL cholesterol:Differential exon
level expression of C20orf19 [probe 3879393] in brain cortex:Differential
exon level expression of C20orf19 [probe 3879393] in peripheral blood
mononuclear cells:Total cholesterol:LDL cholesterol:Height:Waist hip ratio:Neuroblastoma
(brain cancer):Gene expression of XRN2 in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Birth weight:Salmonella-induced
pyroptosis:Advanced age-related macular degeneration (geographic
atrophy):Mitral annular calcium:Advanced age-related macular degeneration |
|
20 |
22562674 |
2 |
FOXA2 |
T |
C |
exonic |
synonymous SNV |
FOXA2:NM_021784:exon2:c.A1206G:p.Q402Q,FOXA2:NM_153675:exon3:c.A1188G:p.Q396Q |
|
20 |
23618395 |
2 |
CST3 |
T |
C |
exonic |
synonymous SNV |
CST3:NM_000099:exon1:c.A105G:p.L35L,CST3:NM_001288614:exon1:c.A105G:p.L35L |
|
20 |
25038484 |
1 |
ACSS1 |
G |
T |
exonic |
synonymous SNV |
ACSS1:NM_001252675:exon1:c.C255A:p.T85T,ACSS1:NM_001252677:exon1:c.C255A:p.T85T,ACSS1:NM_032501:exon1:c.C255A:p.T85T |
|
20 |
25187213 |
1 |
ENTPD6 |
G |
A |
exonic |
nonsynonymous SNV |
ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N |
RS2076559 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene
expression of CT022_HUMAN in blood cells in Celiac
disease:Schizophrenia:Differential exon level expression of ABHD12 [probe
3901876] in brain cortex:Differential exon level expression of ENTPD6 [probe
3880722] in peripheral blood mononuclear cells:Tardive dyskinesia:HOMA-B:Gene
expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in
Cerebellum:LDL cholesterol:Total cholesterol:Gene expression of PYGB in CD4+
lymphocytes:Height:Gene expression of PYGB in blood:Gene expression of [probe
2710615 centered at chr20:25223568] in blood:Gene expression of [probe
7610382 centered at chr20:25229091] in blood:Systolic blood pressure (SBP):Tetrology
of fallot:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
25193949 |
1 |
ENTPD6 |
G |
A |
exonic |
synonymous SNV |
ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001322386:exon4:c.G453A:p.P151P,ENTPD6:NM_001322389:exon4:c.G495A:p.P165P,ENTPD6:NM_001322392:exon4:c.G450A:p.P150P,ENTPD6:NM_001322393:exon4:c.G453A:p.P151P,ENTPD6:NM_001322394:exon4:c.G450A:p.P150P,ENTPD6:NM_001322395:exon4:c.G495A:p.P165P,ENTPD6:NM_001322398:exon4:c.G495A:p.P165P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P,ENTPD6:NM_001317941:exon5:c.G501A:p.P167P,ENTPD6:NM_001322378:exon5:c.G504A:p.P168P,ENTPD6:NM_001322388:exon5:c.G504A:p.P168P,ENTPD6:NM_001322391:exon5:c.G504A:p.P168P,ENTPD6:NM_001322396:exon5:c.G501A:p.P167P,ENTPD6:NM_001322397:exon5:c.G504A:p.P168P,ENTPD6:NM_001322390:exon6:c.G504A:p.P168P |
RS2076561 |
HOMA-B:Gene expression of C20orf22
in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL
cholesterol:Height:Systolic blood pressure (SBP):Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in
Alzheimer's disease cases and controls |
|
20 |
25195509 |
2 |
ENTPD6 |
A |
G |
exonic |
nonsynonymous SNV |
ENTPD6:NM_001322385:exon4:c.A409G:p.K137E,ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001322386:exon5:c.A553G:p.K185E,ENTPD6:NM_001322387:exon5:c.A460G:p.K154E,ENTPD6:NM_001322389:exon5:c.A595G:p.K199E,ENTPD6:NM_001322392:exon5:c.A550G:p.K184E,ENTPD6:NM_001322393:exon5:c.A553G:p.K185E,ENTPD6:NM_001322394:exon5:c.A550G:p.K184E,ENTPD6:NM_001322395:exon5:c.A595G:p.K199E,ENTPD6:NM_001322398:exon5:c.A595G:p.K199E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E,ENTPD6:NM_001317941:exon6:c.A601G:p.K201E,ENTPD6:NM_001322378:exon6:c.A604G:p.K202E,ENTPD6:NM_001322388:exon6:c.A604G:p.K202E,ENTPD6:NM_001322391:exon6:c.A604G:p.K202E,ENTPD6:NM_001322396:exon6:c.A601G:p.K201E,ENTPD6:NM_001322397:exon6:c.A604G:p.K202E,ENTPD6:NM_001322390:exon7:c.A604G:p.K202E |
RS6050446 |
HOMA-B:LDL cholesterol change with
statins:Waist hip ratio:Body mass index (BMI) |
|
20 |
25259006 |
1 |
PYGB |
G |
T |
exonic |
nonsynonymous SNV |
PYGB:NM_002862:exon8:c.G907T:p.A303S |
RS2228976 |
Gene expression of C20orf22 in YRI
lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:College
completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years
of education |
|
20 |
25260931 |
1 |
PYGB |
A |
G |
exonic |
synonymous SNV |
PYGB:NM_002862:exon10:c.A1122G:p.A374A |
RS2227890 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal
cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Temporal cortex:Height:Gene expression of ABHD12 (probeID ILMN_2318685) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
PYGB (probeID ILMN_1778360) in whole blood:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:College completion:Gene expression of ABHD12 in normal prepouch
ileum:Years of education:Gene expression of ABHD12 (probeID ILMN_1745116) in
whole blood:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of PYGB in normal
prepouch ileum:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum
in Alzheimer's disease cases and controls |
|
20 |
25262769 |
1 |
PYGB |
G |
A |
exonic |
nonsynonymous SNV |
PYGB:NM_002862:exon12:c.G1504A:p.D502N |
RS2227891 |
Gene expression of C20orf22 in YRI
lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:Years of
education:Gene expression change of PYGB (ENSG00000100994) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of ABHD12
(probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex
in Alzheimer's disease cases and controls:College completion:Gene expression
of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in
cerebellum in Alzheimer's disease cases and controls |
|
20 |
25264814 |
1 |
PYGB |
T |
C |
exonic |
synonymous SNV |
PYGB:NM_002862:exon14:c.T1695C:p.D565D |
RS2227892 |
Gene expression of C20orf22 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of PYGB in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal
cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Temporal cortex:LDL cholesterol:Total cholesterol:Height:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases
and controls:College completion:Gene expression of ABHD12 (probeID
ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
25276297 |
1 |
PYGB |
G |
A |
exonic |
synonymous SNV |
PYGB:NM_002862:exon19:c.G2370A:p.Q790Q |
RS1130694 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in
Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Frontal cortex:College completion:Gene expression of ABHD12 (probeID
ILMN_2318685) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in
Alzheimer's disease cases and controls:Years of education:Gene expression of
ABHD12 in normal prepouch ileum:Gene expression of PYGB in normal prepouch
ileum |
|
20 |
25282944 |
1 |
ABHD12 |
A |
G |
exonic |
synonymous SNV |
ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D |
|
20 |
25288632 |
1 |
ABHD12 |
G |
A |
exonic |
synonymous SNV |
ABHD12:NM_001042472:exon9:c.C837T:p.R279R,ABHD12:NM_015600:exon9:c.C837T:p.R279R |
RS6107027 |
Gene expression of C20orf22 in CEU
lymphoblastoid cell lines:Gene expression of ABHD12 [probe 228124_at] in
lymphoblastoid cell lines:Fasting blood glucose:Gene expression of C20orf22
in Temporal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression
of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Cerebellum:LDL
cholesterol:Total cholesterol:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Gene expression of ABHD12 (probeID ILMN_2318685) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:College completion:Gene expression of ABHD12
(probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ABHD12 in normal
prepouch ileum |
|
20 |
25398790 |
1 |
GINS1 |
G |
A |
exonic |
nonsynonymous SNV |
GINS1:NM_021067:exon4:c.G289A:p.V97I |
RS6076347 |
Gene expression of C20orf22 in CEU
lymphoblastoid cell lines:Gene expression of ABHD12 [probe 228124_at] in
lymphoblastoid cell lines:HDL cholesterol:Gene expression of CT022_HUMAN in
blood cells in Celiac disease:Differential exon level expression of ABHD12
[probe 3901876] in brain cortex:Acute insulin response to glucose:Gene
expression of C20orf22 [probe ILMN_15850] in osteoblasts:Acute insulin
response:Alzheimer's disease:Fasting blood glucose:HOMA-B:Cystatin C in
serum:Gene expression of C20orf22 in Frontal cortex:Gene expression of
C20orf22 in Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene
expression of C20orf22 in Temporal cortex:Gene expression of ABHD12 in
peripheral blood monocytes:Gene expression of NANP in peripheral blood monocytes:Gene
expression of PYGB in peripheral blood monocytes:LDL cholesterol:Total
cholesterol:Gene expression of C20orf22 in CD4+ lymphocytes:Gene expression
of ABHD12 in blood:Gene expression of PYGB in blood:Gene expression of [probe
2710615 centered at chr20:25223568] in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Alkaline phosphatase (ALP) in plasma:Gene
expression of ABHD12 in liver:Years of education:Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in cerebellum in non-Alzheimer's disease samples:Gene expression
of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of GINS1
(ENSG00000101003) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum
in Alzheimer's disease cases:Gene expression of ABHD12 (probeID ILMN_1745116)
in temporal cortex in Alzheimer's disease cases:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of ABHD12 in normal
prepouch ileum:College completion |
|
20 |
25456888 |
1 |
NINL |
A |
G |
exonic |
synonymous SNV |
NINL:NM_025176:exon17:c.T3039C:p.S1013S |
RS437635 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in
Caudal pons:Gene expression of C20orf22 in Temporal cortex:Gene expression of
C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene
expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and
controls:College completion:Years of education:Gene expression of ABHD12
(probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and
controls |
|
20 |
30193538 |
1 |
ID1 |
A |
G |
exonic |
synonymous SNV |
ID1:NM_002165:exon1:c.A348G:p.G116G,ID1:NM_181353:exon1:c.A348G:p.G116G |
RS15817 |
Advanced age-related macular
degeneration (geographic atrophy):Refractive error |
|
20 |
30381660 |
1 |
TPX2 |
G |
A |
exonic |
nonsynonymous SNV |
TPX2:NM_012112:exon14:c.G1519A:p.E507K |
|
20 |
30381758 |
1 |
TPX2 |
G |
C |
exonic |
synonymous SNV |
TPX2:NM_012112:exon14:c.G1617C:p.S539S |
RS1062794 |
HOMA-B:HOMA-IR:Fasting insulin:HDL
cholesterol:Height:Diastolic blood pressure (DBP):Infant head circumference |
|
20 |
30382315 |
1 |
TPX2 |
A |
G |
exonic |
synonymous SNV |
TPX2:NM_012112:exon15:c.A1797G:p.R599R |
RS3203770 |
HDL
cholesterol:Triglycerides:Height:Diastolic blood pressure (DBP) |
|
20 |
30795819 |
2 |
POFUT1 |
T |
C |
exonic |
synonymous SNV |
POFUT1:NM_015352:exon1:c.T75C:p.P25P,POFUT1:NM_172236:exon1:c.T75C:p.P25P |
|
20 |
31022959 |
2 |
ASXL1 |
T |
C |
exonic |
nonsynonymous SNV |
ASXL1:NM_015338:exon12:c.T2444C:p.L815P |
|
20 |
31024274 |
1 |
ASXL1 |
T |
C |
exonic |
synonymous SNV |
ASXL1:NM_015338:exon12:c.T3759C:p.S1253S |
|
20 |
31609581 |
1 |
BPIFB2 |
C |
T |
exonic |
synonymous SNV |
BPIFB2:NM_025227:exon15:c.C1311T:p.V437V |
RS17124003 |
Alzheimer's disease:LDL cholesterol
change with statins:Total cholesterol:Diastolic blood pressure
(DBP):Height:Resistance to kuru in aged women despite likely exposure:Mitral
annular calcium |
|
20 |
32881908 |
1 |
AHCY |
T |
C |
exonic |
nonsynonymous SNV |
AHCY:NM_000687:exon3:c.A274G:p.I92V,AHCY:NM_001161766:exon3:c.A190G:p.I64V,AHCY:NM_001322084:exon3:c.A190G:p.I64V,AHCY:NM_001322085:exon3:c.A190G:p.I64V,AHCY:NM_001322086:exon3:c.A280G:p.I94V |
|
20 |
33337751 |
2 |
NCOA6 |
T |
C |
exonic |
synonymous SNV |
NCOA6:NM_001242539:exon7:c.A2247G:p.P749P,NCOA6:NM_014071:exon9:c.A2247G:p.P749P,NCOA6:NM_001318240:exon10:c.A2247G:p.P749P |
RS3787220 |
Triglycerides:Total cholesterol:HDL
cholesterol:Triglycerides:Height:Body mass index (BMI):Bipolar
disorder:Obesity with early age of onset (age >2):Breast cancer (Estrogen
receptor negative breast cancer) |
|
20 |
33470694 |
1 |
ACSS2 |
C |
T |
exonic |
synonymous SNV |
ACSS2:NM_001076552:exon2:c.C276T:p.F92F,ACSS2:NM_018677:exon2:c.C276T:p.F92F |
RS4911163 |
Gene expression of ACAS2 in
CEU-CHB-JPT lymphoblastoid cell lines:Hip bone mineral density (BMD):Gene
expression of TRPC4AP in blood cells in Celiac disease:Gene expression of
TRPC4AP [probe ILMN_20082] in osteoblasts:Serum creatinine:Rheumatoid
arthritis:Gene expression of TRPC4AP in Frontal cortex:Gene expression of
TRPC4AP in Temporal cortex:Gene expression of TRPC4AP in Caudal pons:Total
cholesterol:HDL cholesterol:Gene expression of ACSS2 in CD4+
lymphocytes:Height:Gene expression of GGTL3 in blood:Gene expression of
MYH7B///TRPC4AP in blood:Gene expression of ACSS2///GSS in blood:Gene
expression of TRPC4AP in liver:Hypertension (early onset hypertension):Years
of education:Gene expression of ACSS2 (probeID ILMN_1714197) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ACSS2 (probeID
ILMN_1714197) in temporal cortex in Alzheimer's disease cases and controls |
|
20 |
33657126 |
1 |
TRPC4AP |
G |
A |
exonic |
synonymous SNV |
TRPC4AP:NM_015638:exon3:c.C387T:p.Y129Y,TRPC4AP:NM_199368:exon3:c.C387T:p.Y129Y |
RS1998233 |
HDL cholesterol:Hair color
(red):Total cholesterol:Gene expression of TRPC4AP in CD4+
lymphocytes:Asthma:Height:Gene expression of MYH7B///TRPC4AP in blood:Gene
expression of EIF6 in blood:Gene expression of EDEM2 in blood:Gene expression
of [probe 7100544 centered at chr20:33266985] in blood:Bipolar
disorder:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
20 |
33971914 |
2 |
UQCC1 |
C |
T |
exonic |
nonsynonymous SNV |
UQCC1:NM_018244:exon3:c.G152A:p.R51Q,UQCC1:NM_199487:exon3:c.G152A:p.R51Q |
RS4911494 |
Height:Height:Spine bone mineral
density (BMD):LDL cholesterol:Height:Hip axis length:Height (males):Height
(females):Femur length:Gene expression of C20orf44 [probe ILMN_26543] in
osteoblasts:Knee osteoarthritis:Hand osteoarthritis:Total cholesterol:Height
(adolescents):Height:Height (adults):LDL cholesterol:Total
cholesterol:Height:Waist hip ratio:Gene expression of C20orf44 [probe
ILMN_26543] in untreated osteoblasts:Gene expression of C20orf44 [probe
ILMN_26543] in osteoblasts treated with PGE2:Gene expression of C20orf44
[probe ILMN_26543] in osteoblasts treated with dexamethasone:Gene expression
of C20orf44 [probe ILMN_26543] in osteoblasts treated with BMP2:Gene
expression of EIF6 in blood:Gene expression of CEP250 in blood:Gene
expression of UQCC in blood:Diastolic blood pressure (DBP):Comorbid
depressive syndrome and alcohol dependence:Birth weight:Gene expression of
CEP250 (probeID ILMN_1799011) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of CEP250 (probeID ILMN_1799011) in cerebellum in
Alzheimer's disease cases:Gene expression of CEP250 (probeID ILMN_1799011) in
cerebellum in non-Alzheimer's disease samples:Gene expression of CEP250
(probeID ILMN_1799011) in cerebellum in Alzheimer's disease cases and
controls:Salmonella-induced pyroptosis:Gene expression of CEP250 (probeID
ILMN_1799011) in temporal cortex in Alzheimer's disease cases and controls |
|
20 |
35507542 |
1 |
TLDC2 |
G |
A |
exonic |
synonymous SNV |
TLDC2:NM_001304783:exon3:c.G288A:p.R96R,TLDC2:NM_080628:exon3:c.G288A:p.R96R |
RS3748459 |
HDL cholesterol:Triglycerides:Total
cholesterol:Cystatin C in serum:Rheumatoid arthritis:Comorbid depressive
syndrome and alcohol dependence:Salmonella-induced pyroptosis |
|
20 |
35865054 |
2 |
RPN2 |
C |
T |
exonic |
synonymous SNV |
RPN2:NM_001324306:exon14:c.C1354T:p.L452L,RPN2:NM_001135771:exon15:c.C1729T:p.L577L,RPN2:NM_001324299:exon15:c.C1729T:p.L577L,RPN2:NM_001324302:exon15:c.C1729T:p.L577L,RPN2:NM_001324303:exon16:c.C1825T:p.L609L,RPN2:NM_001324304:exon16:c.C1825T:p.L609L,RPN2:NM_002951:exon16:c.C1825T:p.L609L,RPN2:NM_001324301:exon17:c.C1873T:p.L625L,RPN2:NM_001324305:exon17:c.C1873T:p.L625L |
RS4608 |
Gene expression of C20orf132
(probeID ILMN_2363127) in temporal cortex in Alzheimer's disease cases and
controls:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Gene expression of C20orf132 (probeID ILMN_2363127) in cerebellum in
Alzheimer's disease cases and controls |
|
20 |
36030939 |
2 |
SRC |
G |
C |
exonic |
synonymous SNV |
SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A |
|
20 |
39792063 |
1 |
PLCG1 |
A |
G |
exonic |
nonsynonymous SNV |
PLCG1:NM_002660:exon9:c.A835G:p.S279G,PLCG1:NM_182811:exon9:c.A835G:p.S279G |
RS2228246 |
Emergence of suicidal ideation
during treatment with antidepressants:Emergence of suicidal ideation during
treatment with antidepressants (narrow
definition - emergence from suicidal ideation absent at baseline):Emergence
of suicidal ideation during treatment with antidepressants (broad definition - no increase in suicide
ideation) |
|
20 |
39797465 |
2 |
PLCG1 |
T |
C |
exonic |
nonsynonymous SNV |
PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T |
RS386611104 |
Gene expression of THNSL1 [probe
222931_s_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL
cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL
cholesterol:Body mass index (BMI):Gene expression of [probe 5290575 centered
at chr20:39239179] in blood:Metabolic syndrome domains (Central
obesity):Metabolic syndrome domains (Atherogenic Dyslipidemia -
PC2):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC1):Metabolic
syndrome domains (Vascular Inflammation - PC2):Metabolic syndrome domains
(Elevated plasma glucose):Metabolic syndrome domains (Multivariate
analysis):PROP taste detection threshold:Infant head
circumference:Amyotrophic lateral sclerosis (ALS) age of
onset:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Total cholesterol:Coronary artery disease (CAD):Birth weight:Mitral
annular calcium:Prostate cancer |
|
20 |
42089511 |
2 |
SRSF6 |
T |
C |
exonic |
synonymous SNV |
SRSF6:NM_006275:exon6:c.T843C:p.P281P |
RS2235611 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Coronary artery disease (CAD):Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
20 |
42225114 |
2 |
IFT52 |
G |
A |
exonic |
synonymous SNV |
IFT52:NM_001303458:exon3:c.G159A:p.V53V,IFT52:NM_001303459:exon3:c.G159A:p.V53V,IFT52:NM_016004:exon3:c.G159A:p.V53V |
RS2664519 |
Gene expression of MYBL2 in CHB-JPT
lymphoblastoid cell lines:Height:Urinary albumin-to-creatinine ratio:Infant
head circumference:Obesity with early age of onset (age >2) |
|
20 |
42328639 |
2 |
MYBL2 |
T |
C |
exonic |
synonymous SNV |
MYBL2:NM_001278610:exon6:c.T834C:p.P278P,MYBL2:NM_002466:exon7:c.T906C:p.P302P |
RS285162 |
Height:Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP) |
|
20 |
42825929 |
1 |
OSER1 |
C |
T |
exonic |
synonymous SNV |
OSER1:NM_016470:exon4:c.G642A:p.V214V |
RS8268 |
2 hour glucose:Serum creatinine |
|
20 |
42826350 |
1 |
OSER1 |
A |
C |
exonic |
nonsynonymous SNV |
OSER1:NM_016470:exon4:c.T221G:p.V74G |
RS9346 |
Rheumatoid arthritis:Serum
creatinine:Gene expression of C20orf111 in blood:Tetrology of fallot |
|
20 |
42939750 |
2 |
FITM2 |
T |
C |
exonic |
synonymous SNV |
FITM2:NM_001080472:exon1:c.A39G:p.G13G |
|
20 |
43034815 |
1 |
HNF4A |
A |
C |
exonic |
nonsynonymous SNV |
HNF4A:NM_000457:exon2:c.A233C:p.D78A,HNF4A:NM_001030003:exon2:c.A167C:p.D56A,HNF4A:NM_001030004:exon2:c.A167C:p.D56A,HNF4A:NM_175914:exon2:c.A167C:p.D56A,HNF4A:NM_178849:exon2:c.A233C:p.D78A,HNF4A:NM_178850:exon2:c.A233C:p.D78A,HNF4A:NM_001258355:exon3:c.A212C:p.D71A,HNF4A:NM_001287182:exon3:c.A158C:p.D53A,HNF4A:NM_001287183:exon3:c.A158C:p.D53A,HNF4A:NM_001287184:exon3:c.A158C:p.D53A |
|
20 |
43566787 |
1 |
PABPC1L |
A |
G |
exonic |
synonymous SNV |
PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S |
RS11780 |
SYS1 (Transcript:AI096624 ) gene
expression in psoriasis case, uninvolved tissue:PROP taste detection
threshold:Years of education |
|
20 |
43629135 |
2 |
STK4 |
G |
A |
exonic |
nonsynonymous SNV |
STK4:NM_006282:exon8:c.G934A:p.V312M |
RS17420378 |
Bipolar disorder, combined control
dataset, gender differentiated:Bipolar disorder:Transmission distortion:Birth
weight:Paternal transmission distortion |
|
20 |
43976991 |
1 |
SDC4 |
A |
G |
exonic |
nonsynonymous SNV |
SDC4:NM_002999:exon1:c.T34C:p.F12L |
RS2228384 |
Eye color:Chronic obstructive
pulmonary disease (COPD):LDL cholesterol:Gene expression of C20orf169 in
blood:Acute lung injury following major trauma:Primary rhegmatogenous retinal
detachment |
|
20 |
44052992 |
1 |
PIGT |
G |
A |
exonic |
synonymous SNV |
PIGT:NM_001184730:exon8:c.G1065A:p.T355T,PIGT:NM_001184728:exon9:c.G1203A:p.T401T,PIGT:NM_001184729:exon9:c.G1170A:p.T390T,PIGT:NM_015937:exon10:c.G1371A:p.T457T |
RS13217 |
Gene expression of PIGT in
peripheral blood monocytes:Gene expression of SDC4 (ENSG00000124145) in
dendritic cells:Gene expression of SPINT3 (ENSG00000101446) in dendritic
cells treated with Mycobacterium tuberculosis:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG:Gene expression of SYS1 in
normal prepouch ileum:Gene expression change of SPINT3 (ENSG00000101446) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
20 |
44054349 |
1 |
PIGT |
T |
C |
exonic |
synonymous SNV |
PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y |
RS707577 |
Schizophrenia:Recurrent early
onset major depressive disorder (males):Recurrent early onset major
depressive disorder (females):Recurrent early onset major depressive
disorder:LDL cholesterol:Total cholesterol:Gene expression of C20orf35 [probe
ILMN_16777] in osteoblasts treated with dexamethasone:Gene expression of
C20orf169 in blood:Systolic blood pressure (SBP):Gene expression of WFDC2
(probeID ILMN_1706612) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of SYS1 (probeID ILMN_1756590) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID
ILMN_1706612) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SYS1 in normal prepouch ileum:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Gene expression of
WFDC2 (probeID ILMN_1799120) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of WFDC2 (probeID ILMN_1799120) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID
ILMN_1756590) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
44505973 |
1 |
ZSWIM3 |
T |
C |
exonic |
nonsynonymous SNV |
ZSWIM3:NM_080752:exon2:c.T776C:p.V259A |
RS2903808 |
Gene expression of ZSWIM1 [probe
217592_at] in lymphoblastoid cell lines:Differential exon level expression of
SNX21 [probe 3887087] in brain cortex:2 hour glucose:Methylation levels at
chr20:43889508-43889558 [hg18 coord, probe cg08201421] in Cerebellum:HDL
cholesterol:Triglycerides:Gene expression of CTSA///PLTP in blood:Gene
expression of TNNC2 in blood:Gene expression of WFDC3 in blood:Gene
expression of DNTTIP1 in blood:Gene expression of TNNC2 (probeID
ILMN_1693428) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TNNC2 (probeID ILMN_1693428) in cerebellum in Alzheimer's
disease cases:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum
in non-Alzheimer's disease samples:Gene expression of TNNC2 (probeID ILMN_1693428)
in cerebellum in Progressive Supranuclear Palsy cases:Infant head
circumference |
|
20 |
44596207 |
2 |
ZNF335 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF335:NM_022095:exon6:c.G881C:p.S294T |
RS6032606 |
Triglycerides change with
statins:Total cholesterol change with statins:College completion:Obesity with
early age of onset (age >2) |
|
20 |
44691350 |
1 |
NCOA5 |
T |
G |
exonic |
synonymous SNV |
NCOA5:NM_001348148:exon7:c.A1014C:p.T338T,NCOA5:NM_020967:exon8:c.A1329C:p.T443T |
RS1537028 |
Irritible bowel syndrome:HDL
cholesterol:Gene expression of SNX21 [transcript NM_152897, probe
A_24_P117177] in liver:Comorbid depressive syndrome and alcohol
dependence:PROP taste detection threshold:Bipolar disorder:Infant head
circumference:Birth weight |
|
20 |
44996182 |
2 |
ELMO2 |
A |
G |
exonic |
synonymous SNV |
ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_001318253:exon22:c.T1716C:p.D572D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D |
|
20 |
45204266 |
2 |
SLC13A3 |
G |
A |
exonic |
synonymous SNV |
SLC13A3:NM_001193339:exon9:c.C1128T:p.P376P,SLC13A3:NM_001193340:exon10:c.C1032T:p.P344P,SLC13A3:NM_001193342:exon10:c.C984T:p.P328P,SLC13A3:NM_022829:exon10:c.C1278T:p.P426P,SLC13A3:NM_001011554:exon11:c.C1137T:p.P379P |
RS1880898 |
Major depressive disorder (narrow
definition):Major depressive disorder (narrow definition) (females):Major
depressive disorder (narrow definition) (males):Rheumatoid arthritis:Advanced
age-related macular degeneration |
|
20 |
45853037 |
2 |
ZMYND8 |
A |
G |
exonic |
synonymous SNV |
ZMYND8:NM_001281771:exon18:c.T2733C:p.T911T,ZMYND8:NM_001281776:exon18:c.T2808C:p.T936T,ZMYND8:NM_001281781:exon18:c.T2835C:p.T945T,ZMYND8:NM_001281782:exon18:c.T2895C:p.T965T,ZMYND8:NM_001281784:exon18:c.T2973C:p.T991T,ZMYND8:NM_001281775:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281777:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281778:exon19:c.T3114C:p.T1038T,ZMYND8:NM_001281783:exon19:c.T3189C:p.T1063T,ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281773:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281774:exon20:c.T2991C:p.T997T,ZMYND8:NM_001281779:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281780:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281772:exon21:c.T3129C:p.T1043T |
|
20 |
46256424 |
1 |
NCOA3 |
C |
T |
exonic |
nonsynonymous SNV |
NCOA3:NM_001174087:exon7:c.C652T:p.R218C,NCOA3:NM_001174088:exon7:c.C652T:p.R218C,NCOA3:NM_006534:exon7:c.C652T:p.R218C,NCOA3:NM_181659:exon7:c.C652T:p.R218C |
|
20 |
47626847 |
1 |
ARFGEF2 |
T |
C |
exonic |
synonymous SNV |
ARFGEF2:NM_006420:exon27:c.T3663C:p.G1221G |
RS2295580 |
Major depressive disorder:Fasting
insulin:HOMA-IR:Gene expression of ARFGEF2 in peripheral blood monocytes:LDL
cholesterol:Height:Bipolar disorder:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Infant head circumference:Advanced
age-related macular degeneration:Sarcoidosis:Years of education |
|
20 |
47630449 |
1 |
ARFGEF2 |
C |
T |
exonic |
synonymous SNV |
ARFGEF2:NM_006420:exon30:c.C4131T:p.I1377I |
RS2281582 |
Hip bone mineral density
(BMD):Barnes Akathisia Rating Scale:Height:Body mass index (BMI):Cognitive
response to topiramate treatment:Salmonella-induced pyroptosis |
|
20 |
47685320 |
1 |
CSE1L |
G |
C |
exonic |
synonymous SNV |
CSE1L:NM_001256135:exon7:c.G636C:p.L212L,CSE1L:NM_001316:exon7:c.G636C:p.L212L |
RS2227946 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
20 |
47841660 |
1 |
DDX27 |
G |
T |
exonic |
nonsynonymous SNV |
DDX27:NM_001348187:exon6:c.G617T:p.G206V,DDX27:NM_017895:exon6:c.G617T:p.G206V |
RS11553387 |
Bipolar disorder:Hypertension
(early onset hypertension):Obesity with early age of onset (age
>2):Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Infant head circumference:Years of education |
|
20 |
47850182 |
1 |
DDX27 |
C |
T |
exonic |
synonymous SNV |
DDX27:NM_017895:exon11:c.C1302T:p.F434F,DDX27:NM_001348187:exon12:c.C1395T:p.F465F |
RS238148 |
Height:Body mass index
(BMI):Comorbid depressive syndrome and alcohol dependence:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
20 |
47865372 |
1 |
ZNFX1 |
G |
A |
exonic |
synonymous SNV |
ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L |
RS238208 |
Triglycerides change with
statins:Height:Salmonella-induced pyroptosis:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
20 |
47865784 |
1 |
ZNFX1 |
C |
T |
exonic |
nonsynonymous SNV |
ZNFX1:NM_021035:exon14:c.G3777A:p.M1259I |
RS6512577 |
Gene expression of probe 239373_at
in lymphoblastoid cell lines:Triglycerides change with statins:Height:Gene
expression of ZNFX1 in blood:Gene expression of CSE1L in blood:Sporadic
Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension (early onset hypertension):Years
of education:Infant head circumference:Obesity with early age of onset (age
>2):Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
20 |
48257149 |
1 |
B4GALT5 |
C |
T |
exonic |
synonymous SNV |
B4GALT5:NM_004776:exon6:c.G660A:p.E220E |
RS421801 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Gene expression of B4GALT5 in
peripheral blood monocytes:Asthma:Gene expression of B4GALT5 [probeset
221484_at] in sputum:PROP taste detection threshold:Obesity with early age of
onset (age >2) |
|
20 |
48259034 |
1 |
B4GALT5 |
A |
G |
exonic |
synonymous SNV |
B4GALT5:NM_004776:exon5:c.T577C:p.L193L |
RS2235855 |
HOMA-B:Total cholesterol:PROP taste
detection threshold |
|
20 |
48522330 |
1 |
SPATA2 |
G |
A |
exonic |
synonymous SNV |
SPATA2:NM_001135773:exon3:c.C1389T:p.C463C,SPATA2:NM_006038:exon3:c.C1389T:p.C463C |
RS495337 |
Parkinson's disease
(PD):Psoriasis:Chronic kidney disease:Serum creatinine:Psoriasis:Psoriasis
(cutaneous psoriasis):Psoriatic arthritis:Gene expression of HIST1H4F in
blood:Gene expression of [probe 6520358 centered at chr1:156369550] in
blood:Adiponectin levels:Gene expression of RNF114 in normal prepouch
ileum:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
20 |
48522585 |
1 |
SPATA2 |
G |
A |
exonic |
synonymous SNV |
SPATA2:NM_001135773:exon3:c.C1134T:p.S378S,SPATA2:NM_006038:exon3:c.C1134T:p.S378S |
RS492702 |
Chronic kidney disease:Serum
creatinine:Adiponectin levels:Gene expression of RNF114 in normal prepouch
ileum:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
20 |
48524827 |
1 |
SPATA2 |
A |
G |
exonic |
synonymous SNV |
SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y,SPATA2:NM_006038:exon2:c.T201C:p.Y67Y |
RS2769982 |
Simpson-Angus Scale:Chronic kidney
disease:Serum creatinine:Gene expression of ZNF313 in peripheral blood
monocytes:Gene expression of SPATA2 in peripheral blood monocytes:Gene
expression of BID in peripheral blood monocytes:Adiponectin levels |
|
20 |
48770159 |
2 |
TMEM189;TMEM189-UBE2V1 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM189:NM_001162505:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D |
|
20 |
48808011 |
2 |
CEBPB |
C |
T |
exonic |
synonymous SNV |
CEBPB:NM_001285878:exon1:c.C372T:p.A124A,CEBPB:NM_005194:exon1:c.C441T:p.A147A |
|
20 |
50769183 |
1 |
ZFP64 |
G |
A |
exonic |
synonymous SNV |
ZFP64:NM_022088:exon5:c.C1386T:p.A462A,ZFP64:NM_018197:exon6:c.C1548T:p.A516A,ZFP64:NM_199426:exon6:c.C1542T:p.A514A |
RS3746415 |
HDL cholesterol:HDL
cholesterol:Obesity with early age of onset (age >2) |
|
20 |
50769379 |
1 |
ZFP64 |
C |
T |
exonic |
nonsynonymous SNV |
ZFP64:NM_022088:exon5:c.G1190A:p.S397N,ZFP64:NM_018197:exon6:c.G1352A:p.S451N,ZFP64:NM_199426:exon6:c.G1346A:p.S449N |
RS3746414 |
Eye color:HDL cholesterol:Partial
epilepsy:HDL cholesterol:Neuroblastoma (brain cancer):Chronic lymphocytic
leukemia outcome in response to chemotherapy (progression free
survival):Sporadic Creutzfeldt-Jakob disease:Obesity with early age of onset
(age >2) |
|
20 |
50769549 |
1 |
ZFP64 |
A |
G |
exonic |
synonymous SNV |
ZFP64:NM_022088:exon5:c.T1020C:p.H340H,ZFP64:NM_018197:exon6:c.T1182C:p.H394H,ZFP64:NM_199426:exon6:c.T1176C:p.H392H |
RS3746413 |
HDL cholesterol:HDL
cholesterol:Gene expression of ZFP64 [transcript NM_199427, probe
A_32_P148737] in liver:Obesity with early age of onset (age >2) |
|
20 |
50803444 |
1 |
ZFP64 |
C |
T |
exonic |
synonymous SNV |
ZFP64:NM_018197:exon2:c.G213A:p.S71S,ZFP64:NM_022088:exon2:c.G213A:p.S71S,ZFP64:NM_199426:exon2:c.G207A:p.S69S,ZFP64:NM_199427:exon2:c.G213A:p.S71S |
|
20 |
52192408 |
1 |
ZNF217 |
C |
T |
exonic |
synonymous SNV |
ZNF217:NM_006526:exon3:c.G2895A:p.A965A |
|
20 |
52192637 |
1 |
ZNF217 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF217:NM_006526:exon3:c.A2666G:p.D889G |
RS34323943 |
PROP taste detection
threshold:Breast cancer:Prostate cancer |
|
20 |
52193088 |
1 |
ZNF217 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF217:NM_006526:exon3:c.G2215A:p.V739I |
RS6063966 |
Spine bone mineral density
(BMD):Neuroticism:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Fasting blood
glucose:HOMA-B:Choline:cis-Aconitate:Breast cancer:Gene expression of ZNF217
(ENSG00000171940) in dendritic cells:Primary rhegmatogenous retinal detachment:Gene
expression change of ZNF217 (ENSG00000171940) in dendritic cells after
treatment with Mycobacterium tuberculosis |
|
20 |
52193368 |
1 |
ZNF217 |
C |
T |
exonic |
synonymous SNV |
ZNF217:NM_006526:exon3:c.G1935A:p.A645A |
RS3748503 |
HDL cholesterol |
|
20 |
52193660 |
1 |
ZNF217 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF217:NM_006526:exon3:c.C1643T:p.T548I |
|
20 |
52193698 |
1 |
ZNF217 |
G |
A |
exonic |
synonymous SNV |
ZNF217:NM_006526:exon3:c.C1605T:p.N535N |
RS7270855 |
HDL
cholesterol:Microalbuminuria:Adiponectin levels |
|
20 |
52198340 |
1 |
ZNF217 |
T |
A |
exonic |
synonymous SNV |
ZNF217:NM_006526:exon1:c.A1026T:p.A342A |
|
20 |
54961463 |
1 |
AURKA |
T |
C |
exonic |
nonsynonymous SNV |
AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_001323303:exon4:c.A169G:p.I57V,AURKA:NM_001323304:exon4:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_001323305:exon5:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V |
RS1047972 |
Eye color:Triglycerides:Height:Gene
expression of C20orf108 in blood:Age at death with kuru exposure:Gene
expression of CSTF1 (ENSG00000101138) in dendritic cells treated with
Mycobacterium tuberculosis |
|
20 |
55052115 |
1 |
RTFDC1 |
C |
T |
exonic |
synonymous SNV |
RTFDC1:NM_001283036:exon4:c.C333T:p.H111H,RTFDC1:NM_001283037:exon4:c.C333T:p.H111H,RTFDC1:NM_016407:exon4:c.C333T:p.H111H,RTFDC1:NM_001283035:exon5:c.C423T:p.H141H |
|
20 |
55088404 |
2 |
RTFDC1 |
A |
G |
exonic |
nonsynonymous SNV |
RTFDC1:NM_001283036:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283035:exon7:c.A601G:p.M201V |
RS1059768 |
Amyotrophic lateral sclerosis
(ALS):Alzheimer's disease:HOMA-B:Amyotrophic lateral sclerosis
(ALS):Parkinson's disease |
|
20 |
56136536 |
2 |
PCK1 |
A |
G |
exonic |
synonymous SNV |
PCK1:NM_002591:exon2:c.A69G:p.L23L |
|
20 |
56137807 |
2 |
PCK1 |
A |
G |
exonic |
synonymous SNV |
PCK1:NM_002591:exon4:c.A462G:p.S154S |
RS1042523 |
Serum creatinine:Chronic kidney
disease:Triglycerides:Waist hip ratio:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
20 |
56137834 |
2 |
PCK1 |
A |
G |
exonic |
synonymous SNV |
PCK1:NM_002591:exon4:c.A489G:p.S163S |
RS1062601 |
Serum creatinine:Chronic kidney
disease:Triglycerides:HDL cholesterol:Waist hip ratio:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Transmission
distortion |
|
20 |
56137895 |
2 |
PCK1 |
G |
C |
exonic |
nonsynonymous SNV |
PCK1:NM_002591:exon4:c.G550C:p.V184L |
RS707555 |
Triglycerides:HDL
cholesterol:Fasting blood glucose:Serum creatinine:Chronic kidney
disease:Triglycerides:Waist hip ratio:College completion |
|
20 |
56140665 |
1 |
PCK1 |
C |
T |
exonic |
synonymous SNV |
PCK1:NM_002591:exon10:c.C1674T:p.I558I |
|
20 |
57290347 |
2 |
NPEPL1 |
C |
G |
exonic |
nonsynonymous SNV |
NPEPL1:NM_024663:exon12:c.C1537G:p.L513V,NPEPL1:NM_001204872:exon13:c.C1453G:p.L485V,NPEPL1:NM_001204873:exon13:c.C1393G:p.L465V |
RS6026468 |
Gene expression of NPEPL1 in JPT
lymphoblastoid cell lines:Rheumatoid arthritis |
|
20 |
57478807 |
1 |
GNAS |
C |
T |
exonic |
synonymous SNV |
GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077488:exon5:c.C396T:p.I132I,GNAS:NM_001309840:exon5:c.C216T:p.I72I,GNAS:NM_001309861:exon5:c.C216T:p.I72I,GNAS:NM_080425:exon5:c.C2322T:p.I774I |
RS7121 |
Body mass index (BMI):College
completion:Aortic valve calcium:Years of education |
|
20 |
57598870 |
1 |
TUBB1 |
C |
G |
exonic |
nonsynonymous SNV |
TUBB1:NM_030773:exon4:c.C388G:p.L130V |
|
20 |
57599016 |
2 |
TUBB1 |
T |
G |
exonic |
synonymous SNV |
TUBB1:NM_030773:exon4:c.T534G:p.T178T |
|
20 |
60572663 |
2 |
TAF4 |
C |
A |
exonic |
synonymous SNV |
TAF4:NM_003185:exon14:c.G3033T:p.A1011A |
RS2296081 |
Obesity with early age of onset
(age >2):Allele-specific Expression Patterns in human glioblastoma cell
line U87MG |
|
20 |
60768615 |
2 |
MTG2 |
G |
A |
exonic |
nonsynonymous SNV |
MTG2:NM_015666:exon2:c.G139A:p.G47S |
RS6062133 |
HDL cholesterol:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Birth weight:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
20 |
60881330 |
2 |
ADRM1 |
G |
A |
exonic |
synonymous SNV |
ADRM1:NM_001281437:exon3:c.G291A:p.A97A,ADRM1:NM_001281438:exon3:c.G291A:p.A97A,ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A |
|
20 |
60881780 |
2 |
ADRM1 |
T |
C |
exonic |
synonymous SNV |
ADRM1:NM_001281437:exon4:c.T414C:p.L138L,ADRM1:NM_001281438:exon4:c.T414C:p.L138L,ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L |
|
20 |
60892526 |
2 |
LAMA5 |
A |
G |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon55:c.T7386C:p.D2462D |
|
20 |
60892545 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon55:c.G7367A:p.R2456H |
|
20 |
60895697 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon50:c.G6677A:p.R2226H |
RS2297587 |
Rheumatoid arthritis:Triglycerides
change with statins:Serum creatinine:Gene expression of RPS21
(ENSG00000171858) in dendritic cells:Obesity with early age of onset (age
>2):Gene expression change of CABLES2 (ENSG00000149679) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
20 |
60897488 |
1 |
LAMA5 |
G |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon47:c.C6183T:p.F2061F |
|
20 |
60897772 |
2 |
LAMA5 |
T |
C |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon46:c.A6107G:p.H2036R |
|
20 |
60898654 |
1 |
LAMA5 |
G |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon45:c.C5922T:p.N1974N |
|
20 |
60899182 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon43:c.G5722A:p.A1908T |
RS11698080 |
Triglycerides change with
statins:Serum creatinine:Obesity with early age of onset (age >2) |
|
20 |
60899206 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon43:c.G5698A:p.V1900M |
RS2427283 |
Serum creatinine |
|
20 |
60900481 |
2 |
LAMA5 |
A |
G |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon41:c.T5420C:p.F1807S |
|
20 |
60900579 |
2 |
LAMA5 |
C |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon41:c.G5322T:p.T1774T |
|
20 |
60901762 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon40:c.G5269A:p.V1757I |
|
20 |
60902402 |
1 |
LAMA5 |
G |
A |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon38:c.C4999T:p.R1667W |
|
20 |
60903419 |
1 |
LAMA5 |
C |
T |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon35:c.G4530A:p.L1510L |
|
20 |
60904853 |
2 |
LAMA5 |
T |
C |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon32:c.A4099G:p.K1367E |
RS2427286 |
Triglycerides:2 hour glucose |
|
20 |
60905878 |
2 |
LAMA5 |
A |
G |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon30:c.T3773C:p.M1258T |
RS3810548 |
2 hour glucose:Birth weight |
|
20 |
60907675 |
2 |
LAMA5 |
G |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon27:c.C3381T:p.A1127A |
|
20 |
60909060 |
2 |
LAMA5 |
A |
G |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon23:c.T2775C:p.P925P |
|
20 |
60912683 |
2 |
LAMA5 |
T |
C |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon16:c.A2127G:p.T709T |
RS2427289 |
Urinary albumin-to-creatinine ratio |
|
20 |
60913127 |
2 |
LAMA5 |
A |
G |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon14:c.T1836C:p.A612A |
RS8124907 |
Gene expression of CABLES2 in
peripheral blood monocytes:Gene expression of OSBPL2 in peripheral blood
monocytes:Microalbuminuria |
|
20 |
60926828 |
1 |
LAMA5 |
G |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon6:c.C888T:p.I296I |
|
20 |
60927349 |
2 |
LAMA5 |
C |
T |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon4:c.G636A:p.A212A |
RS483876 |
Urinary albumin-to-creatinine ratio |
|
20 |
60966374 |
1 |
CABLES2 |
G |
C |
exonic |
synonymous SNV |
CABLES2:NM_031215:exon9:c.C1227G:p.G409G |
|
20 |
60968596 |
1 |
CABLES2 |
A |
G |
exonic |
synonymous SNV |
CABLES2:NM_031215:exon6:c.T780C:p.H260H |
RS1570027 |
LDL cholesterol:Serum
creatinine:Cystatin C in serum:Height:Gene expression of C20orf151
(ENSG00000130701) in dendritic cells:Gene expression of LAMA5
(ENSG00000130702) in dendritic cells treated with Mycobacterium tuberculosis |
|
20 |
60986019 |
1 |
RBBP8NL |
A |
C |
exonic |
nonsynonymous SNV |
RBBP8NL:NM_080833:exon14:c.T1910G:p.L637R |
RS2236200 |
LDL cholesterol:Serum
creatinine:Rheumatoid arthritis:Height:Gene expression of RPS21///CABLES2 in
blood:Gene expression change of RPS21 (ENSG00000171858) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
20 |
61288038 |
1 |
SLCO4A1 |
G |
A |
exonic |
nonsynonymous SNV |
SLCO4A1:NM_016354:exon2:c.G232A:p.V78I |
|
20 |
61288355 |
1 |
SLCO4A1 |
G |
T |
exonic |
synonymous SNV |
SLCO4A1:NM_016354:exon2:c.G549T:p.G183G |
RS3195701 |
Tetrology of fallot:Adiponectin
levels:Hypertension (early onset hypertension) |
|
20 |
61443636 |
1 |
OGFR |
G |
A |
exonic |
synonymous SNV |
OGFR:NM_007346:exon7:c.G669A:p.L223L |
|
20 |
61443660 |
1 |
OGFR |
G |
A |
exonic |
synonymous SNV |
OGFR:NM_007346:exon7:c.G693A:p.P231P |
RS3204347 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
20 |
61443870 |
1 |
OGFR |
C |
G |
exonic |
synonymous SNV |
OGFR:NM_007346:exon7:c.C903G:p.P301P |
|
20 |
61468571 |
2 |
COL9A3 |
T |
C |
exonic |
synonymous SNV |
COL9A3:NM_001853:exon30:c.T1740C:p.P580P |
|
20 |
61488785 |
1 |
TCFL5 |
T |
C |
exonic |
synonymous SNV |
TCFL5:NM_001301726:exon4:c.A1197G:p.Q399Q,TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q |
RS2294996 |
Gene expression of TCFL5 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TCFL5 [probe
ILMN_12278] in osteoblasts:Fasting blood glucose:Gene expression of TCFL5 in
Temporal cortex:Gene expression of TCFL5 in Cerebellum:Gene expression of
TCFL5 in Frontal cortex:Gene expression of TCFL5 in Caudal pons:Gene
expression of TCFL5 in CD4+ lymphocytes:Gene expression of TCFL5 [probe
ILMN_12278] in osteoblasts treated with PGE2:Gene expression of TCFL5 [probe
ILMN_12278] in untreated osteoblasts:Gene expression of TCFL5 [probe
ILMN_12278] in osteoblasts treated with dexamethasone:Gene expression of
TCFL5 [probe ILMN_12278] in osteoblasts treated with BMP2:Late onset
Alzheimer's disease:Gene expression of COL9A3///TCFL5 in blood:PROP taste
detection threshold:Resistance to kuru in aged women despite likely
exposure:Gene expression of TCFL5 in liver:Gene expression of TCFL5 (probeID
ILMN_1814247) in cerebellum in Alzheimer's disease cases:Gene expression of
TCFL5 (probeID ILMN_1814247) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of TCFL5 (probeID ILMN_1814247) in temporal cortex
in Alzheimer's disease cases:Gene expression of TCFL5 (probeID ILMN_1814247)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of TCFL5 (probeID ILMN_1814247) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of TCFL5 (probeID ILMN_1814247) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TCFL5
(probeID ILMN_1814247) in cerebellum in non-Alzheimer's disease samples |
|
20 |
61512606 |
2 |
DIDO1 |
T |
C |
exonic |
nonsynonymous SNV |
DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A,DIDO1:NM_033081:exon16:c.A4702G:p.T1568A |
|
20 |
61528074 |
1 |
DIDO1 |
T |
C |
exonic |
synonymous SNV |
DIDO1:NM_001193369:exon7:c.A1863G:p.A621A,DIDO1:NM_001193370:exon7:c.A1863G:p.A621A,DIDO1:NM_033081:exon7:c.A1863G:p.A621A,DIDO1:NM_080797:exon7:c.A1863G:p.A621A |
|
20 |
61528306 |
1 |
DIDO1 |
A |
G |
exonic |
nonsynonymous SNV |
DIDO1:NM_001193369:exon7:c.T1631C:p.M544T,DIDO1:NM_001193370:exon7:c.T1631C:p.M544T,DIDO1:NM_033081:exon7:c.T1631C:p.M544T,DIDO1:NM_080797:exon7:c.T1631C:p.M544T |
RS1883848 |
Gene expression of Hs.517172 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression
of DIDO1 [probe 3913564] in brain cortex:Body mass index (BMI):Resistance to
kuru in aged women despite likely exposure:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:College
completion:Years of education:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
20 |
61588159 |
1 |
SLC17A9 |
A |
G |
exonic |
synonymous SNV |
SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T |
RS2245341 |
2 hour glucose:LDL cholesterol |
|
20 |
61594679 |
2 |
SLC17A9 |
A |
G |
exonic |
nonsynonymous SNV |
SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S |
|
20 |
61595636 |
1 |
SLC17A9 |
C |
T |
exonic |
synonymous SNV |
SLC17A9:NM_022082:exon8:c.C879T:p.S293S,SLC17A9:NM_001302643:exon9:c.C861T:p.S287S |
RS2248900 |
LDL cholesterol:Total
cholesterol:Tetrology of fallot:Gene expression of DIDO1 (ENSG00000101191) in
dendritic cells |
|
20 |
61834092 |
1 |
YTHDF1 |
G |
A |
exonic |
synonymous SNV |
YTHDF1:NM_017798:exon4:c.C1200T:p.D400D |
|
20 |
61834695 |
2 |
YTHDF1 |
G |
A |
exonic |
synonymous SNV |
YTHDF1:NM_017798:exon4:c.C597T:p.A199A |
RS6122103 |
Fasting blood glucose:Parkinson's
disease |
|
20 |
62191558 |
1 |
HELZ2 |
G |
A |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon12:c.C5916T:p.A1972A,HELZ2:NM_001037335:exon18:c.C7623T:p.A2541A |
|
20 |
62194103 |
2 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon3:c.T4365C:p.P1455P,HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P |
|
20 |
62194128 |
2 |
HELZ2 |
G |
A |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.C4340T:p.P1447L,HELZ2:NM_001037335:exon9:c.C6047T:p.P2016L |
|
20 |
62196807 |
2 |
HELZ2 |
T |
C |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R |
|
20 |
62198236 |
2 |
HELZ2 |
G |
A |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon1:c.C768T:p.R256R,HELZ2:NM_001037335:exon7:c.C2475T:p.R825R |
|
20 |
62198348 |
2 |
HELZ2 |
C |
T |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon1:c.G656A:p.S219N,HELZ2:NM_001037335:exon7:c.G2363A:p.S788N |
RS438363 |
HDL cholesterol:Serum
creatinine:Gene expression of C20orf195 in CD4+ lymphocytes:Advanced
age-related macular degeneration |
|
20 |
62198662 |
2 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon1:c.T342C:p.Y114Y,HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y |
|
20 |
62200860 |
2 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_001037335:exon5:c.T729C:p.A243A |
RS1757752 |
HDL cholesterol:Gene expression
change of PTK6 (ENSG00000101213) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression change of STMN3 (ENSG00000197457)
in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression
of PTK6 (ENSG00000101213) in dendritic cells |
|
20 |
62221610 |
2 |
GMEB2 |
T |
C |
exonic |
synonymous SNV |
GMEB2:NM_012384:exon10:c.A1425G:p.L475L |
RS311496 |
Lung function, predicted ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Serum creatinine |
|
20 |
62227081 |
2 |
GMEB2 |
A |
G |
exonic |
synonymous SNV |
GMEB2:NM_012384:exon6:c.T501C:p.H167H |
RS311489 |
Cystatin C in serum:Serum creatinine |
|
20 |
62236148 |
2 |
GMEB2 |
T |
C |
exonic |
synonymous SNV |
GMEB2:NM_012384:exon3:c.A177G:p.A59A |
RS6090471 |
Cystatin C in serum:Height:Advanced
age-related macular degeneration (geographic atrophy) |
|
20 |
62320968 |
2 |
RTEL1 |
T |
C |
exonic |
synonymous SNV |
RTEL1:NM_001283010:exon22:c.T1323C:p.D441D,RTEL1:NM_001283009:exon23:c.T1992C:p.D664D,RTEL1:NM_016434:exon23:c.T1992C:p.D664D,RTEL1:NM_032957:exon23:c.T2064C:p.D688D |
|
20 |
62326110 |
2 |
RTEL1 |
A |
C |
exonic |
nonsynonymous SNV |
RTEL1:NM_001283010:exon31:c.A2457C:p.Q819H,RTEL1:NM_001283009:exon32:c.A3126C:p.Q1042H,RTEL1:NM_016434:exon32:c.A3126C:p.Q1042H,RTEL1:NM_032957:exon32:c.A3198C:p.Q1066H |
RS3208008 |
LDL cholesterol:Total
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression of TNFRSF6B [transcript NM_032945, probe A_23_P218646] in liver |
|
20 |
62328375 |
2 |
TNFRSF6B |
A |
G |
exonic |
synonymous SNV |
TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L |
|
20 |
62340115 |
2 |
ZGPAT |
C |
G |
exonic |
nonsynonymous SNV |
ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R |
RS1291212 |
Serum creatinine:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP) |
|
20 |
62372813 |
2 |
SLC2A4RG |
G |
A |
exonic |
synonymous SNV |
SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P |
RS2427536 |
Schizophrenia:Serum creatinine:HDL
cholesterol:Gene expression of EEF1A2 [probe ILMN_2929] in osteoblasts with
treatment interaction:Gene expression of ZGPAT///RP4-583P15.5 in blood:Gene
expression of RP4-583P15.5///SLC2A4RG in blood |
|
20 |
62373707 |
2 |
SLC2A4RG |
G |
T |
exonic |
nonsynonymous SNV |
SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D |
RS8957 |
LDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression change of LIME1 (ENSG00000203896) in dendritic cells after
treatment with Mycobacterium tuberculosis:Gene expression change of ZGPAT
(ENSG00000197114) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of SLC2A4RG (ENSG00000125520) in dendritic cells |
|
20 |
62492922 |
1 |
ABHD16B |
T |
A |
exonic |
nonsynonymous SNV |
ABHD16B:NM_080622:exon1:c.T29A:p.L10Q |
|
20 |
62493978 |
1 |
ABHD16B |
G |
A |
exonic |
nonsynonymous SNV |
ABHD16B:NM_080622:exon1:c.G1085A:p.R362Q |
|
20 |
62494027 |
1 |
ABHD16B |
G |
C |
exonic |
synonymous SNV |
ABHD16B:NM_080622:exon1:c.G1134C:p.A378A |
RS2236152 |
Birth weight |
|
20 |
62591460 |
1 |
ZNF512B |
G |
A |
exonic |
synonymous SNV |
ZNF512B:NM_020713:exon17:c.C2460T:p.P820P |
|
20 |
62595169 |
1 |
ZNF512B |
A |
G |
exonic |
synonymous SNV |
ZNF512B:NM_020713:exon9:c.T1578C:p.L526L |
RS817325 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
20 |
62597694 |
1 |
ZNF512B |
T |
G |
exonic |
synonymous SNV |
ZNF512B:NM_020713:exon5:c.A834C:p.V278V |
RS817329 |
Differential exon level expression
of [probeset 3914266] in peripheral blood mononuclear cells:Differential exon
level expression of ZNF512B [probeset 3914253] in peripheral blood
mononuclear cells:Differential exon level expression of [probeset 3914265] in
peripheral blood mononuclear cells:Differential exon level expression of
[probeset 3914265] in brain cortex:Differential exon level expression of
ZNF512B [probeset 3914253] in brain cortex:Differential exon level expression
of [probeset 3914266] in brain cortex:Total cholesterol:Neuroblastoma (brain
cancer):Gene expression of UCKL1 in blood:Sporadic Creutzfeldt-Jakob
disease:Transmission distortion |
|
21 |
19169155 |
2 |
C21orf91 |
G |
C |
exonic |
nonsynonymous SNV |
C21orf91:NM_001100420:exon3:c.C408G:p.D136E,C21orf91:NM_001100421:exon3:c.C408G:p.D136E,C21orf91:NM_017447:exon3:c.C408G:p.D136E |
RS1047978 |
Simpson-Angus Scale:Total
cholesterol:PROP taste detection threshold |
|
21 |
30250555 |
2 |
N6AMT1 |
T |
C |
exonic |
nonsynonymous SNV |
N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R |
|
21 |
30250615 |
2 |
N6AMT1 |
T |
C |
exonic |
nonsynonymous SNV |
N6AMT1:NM_182749:exon4:c.A353G:p.K118R,N6AMT1:NM_013240:exon5:c.A437G:p.K146R |
|
21 |
30257568 |
2 |
N6AMT1 |
T |
C |
exonic |
nonsynonymous SNV |
N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D |
|
21 |
30339120 |
2 |
LTN1 |
C |
A |
exonic |
nonsynonymous SNV |
LTN1:NM_001320766:exon10:c.G1831T:p.G611C,LTN1:NM_015565:exon10:c.G1831T:p.G611C |
|
21 |
30339234 |
2 |
LTN1 |
T |
C |
exonic |
nonsynonymous SNV |
LTN1:NM_001320766:exon10:c.A1717G:p.S573G,LTN1:NM_015565:exon10:c.A1717G:p.S573G |
|
21 |
30341891 |
2 |
LTN1 |
A |
G |
exonic |
nonsynonymous SNV |
LTN1:NM_001320766:exon9:c.T1346C:p.L449S,LTN1:NM_015565:exon9:c.T1346C:p.L449S |
RS2254796 |
Triglycerides:Fasting
insulin:HOMA-B:HOMA-IR:Methylation levels at chr21:29314090-29314140 [hg18
coord, probe cg05406101] in Frontal cortex:Gene expression of HEMK2 in
blood:Gene expression of CCT8 in blood:Gene expression of C21orf7 in
blood:Gene expression of RWDD2B (probeID ILMN_1698233) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of RWDD2B (probeID
ILMN_1698233) in temporal cortex in Alzheimer's disease cases and controls |
|
21 |
30714776 |
1 |
BACH1 |
T |
C |
exonic |
synonymous SNV |
BACH1:NM_001186:exon5:c.T1833C:p.G611G,BACH1:NM_206866:exon5:c.T1833C:p.G611G |
RS388707 |
HDL cholesterol:HOMA-B:HDL
cholesterol:Height:Systolic blood pressure (SBP):Height (Pygmy height):Lung
function, forced expiratory volume in 1 second (FEV1) percent predicted (in
asthmatic participants):Decrease in FEV1 (in asthmatic participants):Gene expression
of BACH1 (ENSG00000156273) in dendritic cells |
|
21 |
33688865 |
1 |
URB1 |
A |
G |
exonic |
synonymous SNV |
URB1:NM_014825:exon38:c.T6546C:p.A2182A |
RS7279896 |
Cystatin C in serum:Comorbid
depressive syndrome and alcohol dependence:Infant head
circumference:Refractive error:Parkinson's disease |
|
21 |
33694224 |
2 |
URB1 |
C |
G |
exonic |
nonsynonymous SNV |
URB1:NM_014825:exon34:c.G5371C:p.V1791L |
RS3761342 |
2 hour glucose:Obesity with early
age of onset (age >2) |
|
21 |
33719400 |
1 |
URB1 |
A |
G |
exonic |
synonymous SNV |
URB1:NM_014825:exon22:c.T3733C:p.L1245L |
RS9981151 |
LDL cholesterol:Cystatin C in
serum:Total cholesterol:LDL cholesterol:Parkinson's disease:Refractive
error:Infant head circumference |
|
21 |
33719695 |
2 |
URB1 |
C |
T |
exonic |
synonymous SNV |
URB1:NM_014825:exon22:c.G3438A:p.K1146K |
|
21 |
33757947 |
1 |
URB1 |
A |
T |
exonic |
nonsynonymous SNV |
URB1:NM_014825:exon2:c.T189A:p.D63E |
|
21 |
34614255 |
1 |
IFNAR2 |
T |
G |
exonic |
nonsynonymous SNV |
IFNAR2:NM_000874:exon2:c.T28G:p.F10V,IFNAR2:NM_001289125:exon2:c.T28G:p.F10V,IFNAR2:NM_001289126:exon2:c.T28G:p.F10V,IFNAR2:NM_001289128:exon2:c.T28G:p.F10V,IFNAR2:NM_207584:exon2:c.T28G:p.F10V,IFNAR2:NM_207585:exon2:c.T28G:p.F10V |
RS1051393 |
Parkinson's disease:Gene expression
of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of IFNAR2 (probeID ILMN_1765146) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
IFNAR2 (probeID ILMN_1765146) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in
Alzheimer's disease cases and controls |
|
21 |
34640788 |
2 |
IL10RB |
A |
G |
exonic |
nonsynonymous SNV |
IL10RB:NM_000628:exon2:c.A139G:p.K47E |
RS2834167 |
Triglycerides:Alzheimer's
disease:Gene expression of IL10RB in peripheral blood monocytes:Gene
expression of IL10RB [transcript NM_000628, probe A_24_P322741] in liver:Gene
expression of IFNAR1 in blood:Gene expression of IL10RB (probeID
ILMN_2230892) in cerebellum in non-Alzheimer's disease samples:Gene
expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of IL10RB (probeID ILMN_2230892) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease
cases:Transmission distortion:Refractive error:Gene expression of IL10RB
(probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases:Gene
expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's
disease cases and controls:Paternal transmission distortion:Gene expression
of IL10RB (probeID ILMN_2230892) in cerebellum in Progressive Supranuclear
Palsy cases |
|
21 |
34715699 |
2 |
IFNAR1 |
G |
C |
exonic |
nonsynonymous SNV |
IFNAR1:NM_000629:exon4:c.G502C:p.V168L |
RS2257167 |
Diastolic blood pressure (DBP) |
|
21 |
34883618 |
1 |
GART |
T |
C |
exonic |
nonsynonymous SNV |
GART:NM_000819:exon17:c.A2255G:p.D752G,GART:NM_001136005:exon17:c.A2255G:p.D752G,GART:NM_001136006:exon17:c.A2255G:p.D752G |
RS8971 |
Spine bone mineral density
(BMD):Alzheimer's disease:Late onset Alzheimer's disease:Gene expression of
GART in blood:Gene expression of [probe 4480647 centered at chr21:33733423]
in blood:Gene expression of IFNGR2 in blood:Years of education:College completion |
|
21 |
34897113 |
1 |
GART |
C |
T |
exonic |
nonsynonymous SNV |
GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I |
RS8788 |
Years of education:College
completion:Birth weight |
|
21 |
34924243 |
1 |
SON |
T |
C |
exonic |
synonymous SNV |
SON:NM_001291411:exon3:c.T2706C:p.D902D,SON:NM_032195:exon3:c.T2706C:p.D902D,SON:NM_138927:exon3:c.T2706C:p.D902D |
|
21 |
34925142 |
2 |
SON |
C |
T |
exonic |
nonsynonymous SNV |
SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L |
|
21 |
34925689 |
1 |
SON |
G |
A |
exonic |
synonymous SNV |
SON:NM_001291411:exon3:c.G4152A:p.L1384L,SON:NM_032195:exon3:c.G4152A:p.L1384L,SON:NM_138927:exon3:c.G4152A:p.L1384L |
|
21 |
34926260 |
1 |
SON |
C |
T |
exonic |
nonsynonymous SNV |
SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C |
RS13047599 |
HDL cholesterol:Serum
creatinine:Gene expression of TMEM50B in blood:Years of education:Birth
weight:College completion |
|
21 |
34945721 |
1 |
SON |
T |
C |
exonic |
synonymous SNV |
SON:NM_001291412:exon8:c.T1077C:p.N359N,SON:NM_138927:exon9:c.T6993C:p.N2331N |
|
21 |
35281393 |
2 |
ATP5O |
A |
G |
exonic |
synonymous SNV |
ATP5O:NM_001697:exon4:c.T321C:p.N107N |
RS4591 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression of ATP5O in normal prepouch ileum |
|
21 |
35469193 |
2 |
SLC5A3 |
C |
A |
exonic |
nonsynonymous SNV |
SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K |
|
21 |
37617630 |
2 |
DOPEY2 |
T |
G |
exonic |
nonsynonymous SNV |
DOPEY2:NM_001320714:exon19:c.T3352G:p.C1118G,DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G |
RS4817788 |
Serum creatinine:Partial
epilepsy:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration (geographic atrophy) |
|
21 |
38444863 |
2 |
PIGP |
C |
T |
exonic |
nonsynonymous SNV |
PIGP:NM_153681:exon1:c.G25A:p.A9T |
|
21 |
38525356 |
2 |
TTC3 |
T |
C |
exonic |
nonsynonymous SNV |
TTC3:NM_001330681:exon18:c.T1589C:p.M530T,TTC3:NM_001330682:exon18:c.T1589C:p.M530T,TTC3:NM_001001894:exon27:c.T2519C:p.M840T,TTC3:NM_001320703:exon27:c.T2585C:p.M862T,TTC3:NM_001320704:exon27:c.T2519C:p.M840T,TTC3:NM_001330683:exon27:c.T2519C:p.M840T,TTC3:NM_003316:exon27:c.T2519C:p.M840T |
RS1053808 |
Lp-PLA2 mass:Methylation levels at
chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Frontal
cortex:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe
cg21832243] in Temporal cortex:Methylation levels at chr21:37366093-37366143
[hg18 coord, probe cg21832243] in Caudal pons:Gene expression of DSCR5 in
Caudal pons:Gene expression of DSCR5 in Temporal cortex:Triglycerides:Gene
expression of PIGP (probeID ILMN_1774949) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of PIGP (probeID ILMN_1774949) in
cerebellum in Alzheimer's disease cases and controls |
|
21 |
38568009 |
2 |
TTC3 |
G |
C |
exonic |
nonsynonymous SNV |
TTC3:NM_001330681:exon33:c.G4321C:p.D1441H,TTC3:NM_001330682:exon33:c.G4321C:p.D1441H,TTC3:NM_001001894:exon42:c.G5251C:p.D1751H,TTC3:NM_001330683:exon42:c.G5251C:p.D1751H,TTC3:NM_003316:exon42:c.G5251C:p.D1751H,TTC3:NM_001320703:exon43:c.G5371C:p.D1791H,TTC3:NM_001320704:exon43:c.G5305C:p.D1769H |
RS1053966 |
Triglycerides:Methylation levels at
chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Frontal
cortex:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe
cg21832243] in Temporal cortex:Methylation levels at chr21:37366093-37366143
[hg18 coord, probe cg21832243] in Caudal pons:Gene expression of DSCR5 in
Caudal pons:Gene expression of DSCR5 in Temporal cortex:Triglycerides:HDL
cholesterol:College completion:Gene expression of TTC3 in normal prepouch
ileum |
|
21 |
38568308 |
2 |
TTC3 |
C |
T |
exonic |
synonymous SNV |
TTC3:NM_001330681:exon33:c.C4620T:p.H1540H,TTC3:NM_001330682:exon33:c.C4620T:p.H1540H,TTC3:NM_001001894:exon42:c.C5550T:p.H1850H,TTC3:NM_001330683:exon42:c.C5550T:p.H1850H,TTC3:NM_003316:exon42:c.C5550T:p.H1850H,TTC3:NM_001320703:exon43:c.C5670T:p.H1890H,TTC3:NM_001320704:exon43:c.C5604T:p.H1868H |
RS6579 |
Triglycerides:Methylation levels at
chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Frontal
cortex:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe
cg21832243] in Temporal cortex:Methylation levels at chr21:37366093-37366143
[hg18 coord, probe cg21832243] in Caudal pons:Gene expression of DSCR5 in
Temporal cortex:Gene expression of DSCR5 in Caudal pons:Triglycerides:Height |
|
21 |
40191431 |
1 |
ETS2 |
T |
G |
exonic |
synonymous SNV |
ETS2:NM_005239:exon8:c.T816G:p.T272T,ETS2:NM_001256295:exon9:c.T1236G:p.T412T |
RS457705 |
HDL cholesterol:Lung function,
ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity
(FVC) (FEV1/FVC) |
|
21 |
40191638 |
1 |
ETS2 |
A |
G |
exonic |
synonymous SNV |
ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P |
RS461155 |
HDL cholesterol:Lung function,
ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity
(FVC) (FEV1/FVC) |
|
21 |
40552307 |
2 |
PSMG1 |
A |
G |
exonic |
synonymous SNV |
PSMG1:NM_001261824:exon3:c.T297C:p.A99A,PSMG1:NM_001320795:exon3:c.T36C:p.A12A,PSMG1:NM_003720:exon3:c.T297C:p.A99A,PSMG1:NM_203433:exon3:c.T297C:p.A99A |
RS3171465 |
Serum creatinine:Rheumatoid
arthritis:Gene expression of BRWD1 in Frontal cortex:Gene expression of BRWD1
in Caudal pons:Gene expression of BRWD1 in Temporal cortex:Gene expression of
BRWD1 in Cerebellum:Gene expression of BRWD1 [transcript NM_033656, probe
A_24_P231025] in liver:Gene expression of BRWD1 (probeID ILMN_1801866) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases and
controls |
|
21 |
40571246 |
2 |
BRWD1 |
A |
G |
exonic |
nonsynonymous SNV |
BRWD1:NM_018963:exon40:c.T5096C:p.L1699P,BRWD1:NM_033656:exon40:c.T5096C:p.L1699P |
RS1041439 |
Gene expression of C21orf107 in JPT
lymphoblastoid cell lines:Triglycerides:LDL cholesterol:Gene expression of
BRWD1 in blood:Gene expression of HMGN1 in blood:Refractive error:Gene
expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of BRWD1 (probeID ILMN_1801866) in
temporal cortex in Alzheimer's disease cases:Gene expression of BRWD1
(probeID ILMN_1801866) in cerebellum in non-Alzheimer's disease samples:Gene
expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of BRWD1 (probeID ILMN_1801866) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of BRWD1
(probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases:Gene
expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Progressive
Supranuclear Palsy cases |
|
21 |
40670460 |
2 |
BRWD1 |
G |
C |
exonic |
nonsynonymous SNV |
BRWD1:NM_001007246:exon5:c.C247G:p.Q83E,BRWD1:NM_018963:exon5:c.C247G:p.Q83E,BRWD1:NM_033656:exon5:c.C247G:p.Q83E |
RS2056844 |
Gene expression of C21orf107 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of LOC400452 in CEU
lymphoblastoid cell lines:Triglycerides:Serum creatinine:Gene expression of
BRWD1 in Cerebellum:Gene expression of BRWD1 in Caudal pons:Gene expression
of BRWD1 in Frontal cortex:Gene expression of BRWD1 in Temporal cortex:Total
cholesterol:Triglycerides:Gene expression of HMGN1 (probeID ILMN_2151579) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of HMGN1 (probeID ILMN_2151579) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of BRWD1 (probeID
ILMN_1801866) in temporal cortex in Alzheimer's disease cases and controls |
|
21 |
43161022 |
2 |
RIPK4 |
C |
T |
exonic |
synonymous SNV |
RIPK4:NM_020639:exon8:c.G2331A:p.T777T |
|
21 |
43161357 |
2 |
RIPK4 |
T |
C |
exonic |
nonsynonymous SNV |
RIPK4:NM_020639:exon8:c.A1996G:p.M666V |
RS3746891 |
Triglycerides |
|
21 |
43161805 |
2 |
RIPK4 |
G |
A |
exonic |
synonymous SNV |
RIPK4:NM_020639:exon8:c.C1548T:p.D516D |
RS2838113 |
LDL cholesterol:Gene expression
change of RIPK4 (ENSG00000183421) in dendritic cells after treatment with
Mycobacterium tuberculosis:Infant head circumference |
|
21 |
43161877 |
2 |
RIPK4 |
C |
T |
exonic |
synonymous SNV |
RIPK4:NM_020639:exon8:c.G1476A:p.A492A |
RS3746893 |
LDL cholesterol:Bipolar
disorder:Infant head circumference |
|
21 |
43162128 |
1 |
RIPK4 |
T |
G |
exonic |
nonsynonymous SNV |
RIPK4:NM_020639:exon8:c.A1225C:p.K409Q |
|
21 |
43164232 |
2 |
RIPK4 |
C |
A |
exonic |
synonymous SNV |
RIPK4:NM_020639:exon7:c.G1005T:p.L335L |
|
21 |
43221483 |
2 |
PRDM15 |
A |
G |
exonic |
nonsynonymous SNV |
PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_001282934:exon25:c.T3514C:p.S1172P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P |
|
21 |
43239972 |
2 |
PRDM15 |
A |
G |
exonic |
synonymous SNV |
PRDM15:NM_001040424:exon18:c.T2337C:p.N779N,PRDM15:NM_001282934:exon19:c.T2397C:p.N799N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N |
|
21 |
43327793 |
2 |
C2CD2 |
C |
T |
exonic |
synonymous SNV |
C2CD2:NM_199050:exon8:c.G654A:p.S218S,C2CD2:NM_015500:exon9:c.G1119A:p.S373S |
|
21 |
44189166 |
1 |
PDE9A |
T |
C |
exonic |
synonymous SNV |
PDE9A:NM_001001580:exon11:c.T840C:p.P280P,PDE9A:NM_001001575:exon12:c.T1011C:p.P337P,PDE9A:NM_001001576:exon12:c.T840C:p.P280P,PDE9A:NM_001001569:exon13:c.T1107C:p.P369P,PDE9A:NM_001001572:exon13:c.T870C:p.P290P,PDE9A:NM_001001577:exon13:c.T1089C:p.P363P,PDE9A:NM_001001568:exon14:c.T1110C:p.P370P,PDE9A:NM_001001573:exon14:c.T870C:p.P290P,PDE9A:NM_001001578:exon14:c.T1185C:p.P395P,PDE9A:NM_001001579:exon14:c.T870C:p.P290P,PDE9A:NM_001001571:exon15:c.T1188C:p.P396P,PDE9A:NM_001001574:exon15:c.T1233C:p.P411P,PDE9A:NM_001001581:exon15:c.T1290C:p.P430P,PDE9A:NM_001001584:exon15:c.T870C:p.P290P,PDE9A:NM_001001585:exon15:c.T870C:p.P290P,PDE9A:NM_001001567:exon16:c.T1311C:p.P437P,PDE9A:NM_001001570:exon16:c.T1332C:p.P444P,PDE9A:NM_001001582:exon16:c.T1368C:p.P456P,PDE9A:NM_001001583:exon16:c.T1413C:p.P471P,PDE9A:NM_001315533:exon17:c.T1167C:p.P389P,PDE9A:NM_002606:exon17:c.T1491C:p.P497P |
|
21 |
44189172 |
1 |
PDE9A |
A |
C |
exonic |
synonymous SNV |
PDE9A:NM_001001580:exon11:c.A846C:p.A282A,PDE9A:NM_001001575:exon12:c.A1017C:p.A339A,PDE9A:NM_001001576:exon12:c.A846C:p.A282A,PDE9A:NM_001001569:exon13:c.A1113C:p.A371A,PDE9A:NM_001001572:exon13:c.A876C:p.A292A,PDE9A:NM_001001577:exon13:c.A1095C:p.A365A,PDE9A:NM_001001568:exon14:c.A1116C:p.A372A,PDE9A:NM_001001573:exon14:c.A876C:p.A292A,PDE9A:NM_001001578:exon14:c.A1191C:p.A397A,PDE9A:NM_001001579:exon14:c.A876C:p.A292A,PDE9A:NM_001001571:exon15:c.A1194C:p.A398A,PDE9A:NM_001001574:exon15:c.A1239C:p.A413A,PDE9A:NM_001001581:exon15:c.A1296C:p.A432A,PDE9A:NM_001001584:exon15:c.A876C:p.A292A,PDE9A:NM_001001585:exon15:c.A876C:p.A292A,PDE9A:NM_001001567:exon16:c.A1317C:p.A439A,PDE9A:NM_001001570:exon16:c.A1338C:p.A446A,PDE9A:NM_001001582:exon16:c.A1374C:p.A458A,PDE9A:NM_001001583:exon16:c.A1419C:p.A473A,PDE9A:NM_001315533:exon17:c.A1173C:p.A391A,PDE9A:NM_002606:exon17:c.A1497C:p.A499A |
|
21 |
44270229 |
1 |
WDR4 |
C |
T |
exonic |
nonsynonymous SNV |
WDR4:NM_001260474:exon11:c.G1166A:p.R389Q,WDR4:NM_001260475:exon11:c.G731A:p.R244Q,WDR4:NM_001260476:exon11:c.G731A:p.R244Q,WDR4:NM_001260477:exon11:c.G731A:p.R244Q,WDR4:NM_018669:exon11:c.G1169A:p.R390Q,WDR4:NM_033661:exon11:c.G1169A:p.R390Q |
RS6586250 |
Gene expression of NDUFV3 in
CHB-JPT lymphoblastoid cell lines:Triglycerides:Partial
epilepsy:Triglycerides:Asthma:Gene expression of AC127383.1 in blood:Gene
expression of CBS in blood:Tetrology of fallot:Prostate cancer |
|
21 |
44293744 |
1 |
WDR4 |
C |
G |
exonic |
nonsynonymous SNV |
WDR4:NM_001260474:exon3:c.G213C:p.K71N,WDR4:NM_018669:exon3:c.G213C:p.K71N,WDR4:NM_033661:exon3:c.G213C:p.K71N |
RS2248490 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Triglycerides change with statins:Gene expression
of WDR4 in peripheral blood monocytes:Triglycerides:Aortic valve
calcium:Prostate cancer |
|
21 |
44323590 |
1 |
NDUFV3 |
T |
G |
exonic |
synonymous SNV |
NDUFV3:NM_021075:exon3:c.T468G:p.S156S |
RS4148973 |
Triglycerides:HOMA-IR:Triglycerides:Sporadic
Creutzfeldt-Jakob disease:Parkinson's disease:Aortic valve calcium |
|
21 |
44324365 |
1 |
NDUFV3 |
G |
A |
exonic |
nonsynonymous SNV |
NDUFV3:NM_021075:exon3:c.G1243A:p.D415N |
RS10595 |
Birth weight |
|
21 |
44837551 |
1 |
LOC102724428;SIK1 |
G |
A |
exonic |
synonymous SNV |
LOC102724428:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P |
|
21 |
44837555 |
2 |
LOC102724428;SIK1 |
G |
A |
exonic |
nonsynonymous SNV |
LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V |
RS430554 |
Total cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Adiponectin levels |
|
21 |
45107518 |
2 |
RRP1B |
A |
G |
exonic |
synonymous SNV |
RRP1B:NM_015056:exon13:c.A1263G:p.P421P |
|
21 |
45107562 |
1 |
RRP1B |
T |
C |
exonic |
nonsynonymous SNV |
RRP1B:NM_015056:exon13:c.T1307C:p.L436P |
|
21 |
45168884 |
1 |
PDXK |
G |
A |
exonic |
synonymous SNV |
PDXK:NM_001331030:exon5:c.G267A:p.P89P,PDXK:NM_003681:exon6:c.G387A:p.P129P |
|
21 |
45209559 |
1 |
RRP1 |
C |
T |
exonic |
synonymous SNV |
RRP1:NM_003683:exon1:c.C49T:p.L17L |
|
21 |
45217559 |
2 |
RRP1 |
T |
C |
exonic |
synonymous SNV |
RRP1:NM_003683:exon7:c.T600C:p.I200I |
RS2838378 |
Gene expression of CSTB [probe
201201_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Gene
expression of CSTB in peripheral blood monocytes:Height:Age-related macular
degeneration:PROP taste detection threshold:Temperament in bipolar disorder
(Anxious):Gene expression of CSTB in normal prepouch ileum |
|
21 |
45217929 |
2 |
RRP1 |
T |
C |
exonic |
synonymous SNV |
RRP1:NM_003683:exon8:c.T759C:p.G253G |
RS2838379 |
PROP taste detection threshold:Gene
expression of CSTB (ENSG00000160213) in dendritic cells |
|
21 |
45219524 |
2 |
RRP1 |
T |
C |
exonic |
synonymous SNV |
RRP1:NM_003683:exon9:c.T885C:p.V295V |
RS4566449 |
PROP taste detection threshold |
|
21 |
45220483 |
1 |
RRP1 |
A |
G |
exonic |
nonsynonymous SNV |
RRP1:NM_003683:exon10:c.A977G:p.K326R |
RS915770 |
Irritible bowel syndrome:Body mass
index (BMI):Gene expression of CSTB in blood:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Parkinson's disease:Paternal transmission
distortion:Salmonella-induced pyroptosis:Transmission distortion:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
21 |
45389034 |
1 |
AGPAT3 |
C |
T |
exonic |
synonymous SNV |
AGPAT3:NM_001037553:exon4:c.C384T:p.Y128Y,AGPAT3:NM_020132:exon5:c.C384T:p.Y128Y |
RS61737069 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
21 |
45479055 |
1 |
TRAPPC10 |
C |
T |
exonic |
synonymous SNV |
TRAPPC10:NM_003274:exon6:c.C750T:p.D250D |
RS2838475 |
Triglycerides:Gene expression of
FOXC2 in peripheral blood monocytes:Partial epilepsy |
|
21 |
45503121 |
1 |
TRAPPC10 |
G |
A |
exonic |
nonsynonymous SNV |
TRAPPC10:NM_001351709:exon7:c.G775A:p.V259M,TRAPPC10:NM_003274:exon14:c.G2176A:p.V726M |
RS2071152 |
Triglycerides:HDL cholesterol:Gene
expression of C21orf33 in blood:PROP taste detection threshold:Gene
expression of TRAPPC10 in normal prepouch ileum |
|
21 |
45506819 |
1 |
TRAPPC10 |
T |
C |
exonic |
synonymous SNV |
TRAPPC10:NM_001351709:exon9:c.T1116C:p.A372A,TRAPPC10:NM_003274:exon16:c.T2517C:p.A839A |
RS1131999 |
Gene expression of TRAPPC10 in
normal prepouch ileum |
|
21 |
45528919 |
1 |
PWP2 |
G |
A |
exonic |
nonsynonymous SNV |
PWP2:NM_005049:exon2:c.G73A:p.D25N |
RS2020945 |
Gene expression of PWP2 [probe
209336_at] in lymphoblastoid cell lines:Gene expression of HSS00354734 in
liver:Differential exon level expression of PWP2 [probe 3923518] in brain
cortex:Total cholesterol change with statins:Gene expression of PWP2H [probe
ILMN_28098] in untreated osteoblasts:Gene expression of C21orf33 in
blood:PROP taste detection threshold:Gene expression of TRAPPC10 in normal
prepouch ileum:Obesity with early age of onset (age >2) |
|
21 |
45540919 |
1 |
PWP2 |
A |
G |
exonic |
synonymous SNV |
PWP2:NM_005049:exon13:c.A1572G:p.T524T |
RS2071143 |
Total cholesterol change with
statins:PROP taste detection threshold |
|
21 |
45544594 |
1 |
PWP2 |
T |
C |
exonic |
synonymous SNV |
PWP2:NM_005049:exon15:c.T1951C:p.L651L |
RS2187313 |
Gene expression of PWP2 [probe
209336_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Total
cholesterol change with statins |
|
21 |
45553596 |
1 |
C21orf33 |
T |
C |
exonic |
nonsynonymous SNV |
C21orf33:NM_001320383:exon1:c.T17C:p.V6A,C21orf33:NM_001320384:exon1:c.T17C:p.V6A,C21orf33:NM_004649:exon1:c.T17C:p.V6A,C21orf33:NM_198155:exon1:c.T17C:p.V6A |
RS968714 |
Total cholesterol change with
statins:PROP taste detection threshold |
|
21 |
45876716 |
1 |
LRRC3 |
G |
A |
exonic |
synonymous SNV |
LRRC3:NM_030891:exon2:c.G189A:p.P63P |
|
21 |
46271452 |
1 |
PTTG1IP |
C |
T |
exonic |
nonsynonymous SNV |
PTTG1IP:NM_001286822:exon3:c.G259A:p.A87T |
RS235314 |
HDL cholesterol:HDL cholesterol:HDL
cholesterol:Gene expression of PTTG1IP in liver:Coronary artery disease (CAD) |
|
21 |
46311813 |
2 |
ITGB2 |
A |
G |
exonic |
synonymous SNV |
ITGB2:NM_000211:exon11:c.T1323C:p.V441V,ITGB2:NM_001127491:exon11:c.T1323C:p.V441V,ITGB2:NM_001303238:exon11:c.T1116C:p.V372V |
RS235326 |
Eye color:Longstanding
arthritis:HDL cholesterol:LDL cholesterol:Differential exon level expression
of ITGB2 [probe 3934743] in peripheral blood mononuclear cells:HDL
cholesterol:Gene expression of PTTG1IP in blood:Tetrology of fallot:Advanced
age-related macular degeneration:Salmonella-induced pyroptosis |
|
21 |
46313442 |
1 |
ITGB2 |
G |
T |
exonic |
synonymous SNV |
ITGB2:NM_000211:exon10:c.C1101A:p.V367V,ITGB2:NM_001127491:exon10:c.C1101A:p.V367V,ITGB2:NM_001303238:exon10:c.C894A:p.V298V |
|
21 |
46314907 |
2 |
ITGB2 |
T |
A |
exonic |
nonsynonymous SNV |
ITGB2:NM_000211:exon9:c.A1062T:p.Q354H,ITGB2:NM_001127491:exon9:c.A1062T:p.Q354H,ITGB2:NM_001303238:exon9:c.A855T:p.Q285H |
|
21 |
46641968 |
2 |
ADARB1 |
G |
A |
exonic |
nonsynonymous SNV |
ADARB1:NM_001346687:exon11:c.G2185A:p.A729T |
RS1051367 |
Gene expression of POFUT2 (probeID
ILMN_2376667) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of POFUT2 (probeID ILMN_2376667) in cerebellum in
Alzheimer's disease cases and controls |
|
21 |
46899842 |
1 |
COL18A1 |
C |
T |
exonic |
synonymous SNV |
COL18A1:NM_030582:exon9:c.C1815T:p.P605P,COL18A1:NM_130444:exon9:c.C2520T:p.P840P,COL18A1:NM_130445:exon10:c.C1275T:p.P425P |
|
21 |
46910210 |
1 |
COL18A1 |
G |
A |
exonic |
nonsynonymous SNV |
COL18A1:NM_030582:exon19:c.G2521A:p.V841I,COL18A1:NM_130444:exon19:c.G3226A:p.V1076I,COL18A1:NM_130445:exon20:c.G1981A:p.V661I |
|
21 |
46911188 |
1 |
COL18A1 |
C |
G |
exonic |
nonsynonymous SNV |
COL18A1:NM_030582:exon21:c.C2657G:p.P886R,COL18A1:NM_130444:exon21:c.C3362G:p.P1121R,COL18A1:NM_130445:exon22:c.C2117G:p.P706R |
|
21 |
46929467 |
1 |
COL18A1 |
G |
A |
exonic |
synonymous SNV |
COL18A1:NM_030582:exon39:c.G3978A:p.A1326A,COL18A1:NM_130444:exon39:c.G4683A:p.A1561A,COL18A1:NM_130445:exon40:c.G3438A:p.A1146A |
RS1050351 |
Serum creatinine |
|
21 |
46951556 |
1 |
SLC19A1 |
A |
G |
exonic |
synonymous SNV |
SLC19A1:NM_001205207:exon2:c.T576C:p.P192P,SLC19A1:NM_001205206:exon3:c.T696C:p.P232P,SLC19A1:NM_194255:exon3:c.T696C:p.P232P |
|
21 |
46957794 |
1 |
SLC19A1 |
T |
C |
exonic |
nonsynonymous SNV |
SLC19A1:NM_001205206:exon2:c.A80G:p.H27R,SLC19A1:NM_194255:exon2:c.A80G:p.H27R |
RS1051266 |
Stabilized warfarin dose:Atopy:Gene
expression of COL18A1 [transcript NM_030582, probe A_23_P211212] in
liver:Obesity with early age of onset (age >2) |
|
21 |
47558473 |
1 |
FTCD |
G |
C |
exonic |
synonymous SNV |
FTCD:NM_001320412:exon12:c.C1392G:p.A464A,FTCD:NM_006657:exon12:c.C1392G:p.A464A,FTCD:NM_206965:exon12:c.C1392G:p.A464A |
|
21 |
47558552 |
1 |
FTCD |
G |
A |
exonic |
nonsynonymous SNV |
FTCD:NM_001320412:exon12:c.C1313T:p.A438V,FTCD:NM_006657:exon12:c.C1313T:p.A438V,FTCD:NM_206965:exon12:c.C1313T:p.A438V |
|
21 |
47676711 |
2 |
MCM3AP |
G |
A |
exonic |
synonymous SNV |
MCM3AP:NM_003906:exon17:c.C3924T:p.S1308S |
RS2839173 |
Triglycerides:Gene expression of
MCM3APAS (probeID ILMN_2065822) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of MCM3AP in normal prepouch ileum:Gene
expression of MCM3AP-AS1 in normal prepouch ileum:Gene expression of YBEY in normal
prepouch ileum:Gene expression of MCM3APAS (probeID ILMN_2065822) in temporal
cortex in Alzheimer's disease cases and controls |
|
21 |
47685939 |
2 |
MCM3AP |
A |
G |
exonic |
synonymous SNV |
MCM3AP:NM_003906:exon11:c.T2931C:p.H977H |
RS2839181 |
HDL cholesterol change with
statins:Triglycerides:Gene expression of C21orf57 (probeID ILMN_2411127) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
MCM3AP-AS1 in normal prepouch ileum:Gene expression of C21orf56 (probeID
ILMN_1716838) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of C21orf57 (probeID ILMN_2411127) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of C21orf57
(probeID ILMN_1765328) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of MCM3APAS (probeID ILMN_2065822) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of C21orf56
(probeID ILMN_1716838) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of MCM3AP
(ENSG00000160294) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of YBEY in normal prepouch ileum:Gene expression
of C21orf57 (probeID ILMN_1765328) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
MCM3APAS (probeID ILMN_2065822) in cerebellum in Alzheimer's disease cases
and controls:Infant head circumference |
|
21 |
47734659 |
2 |
C21orf58 |
G |
A |
exonic |
nonsynonymous SNV |
C21orf58:NM_001286463:exon4:c.C262T:p.P88S,C21orf58:NM_001286462:exon5:c.C262T:p.P88S,C21orf58:NM_001286476:exon5:c.C262T:p.P88S,C21orf58:NM_001286477:exon5:c.C262T:p.P88S,C21orf58:NM_058180:exon5:c.C580T:p.P194S |
|
21 |
47777063 |
2 |
PCNT |
G |
A |
exonic |
nonsynonymous SNV |
PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E |
|
21 |
47783796 |
2 |
PCNT |
T |
C |
exonic |
synonymous SNV |
PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A |
|
21 |
47786817 |
2 |
PCNT |
C |
G |
exonic |
synonymous SNV |
PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L |
RS2839228 |
Gene expression of C21orf57 [probe
227421_at] in lymphoblastoid cell lines:Chronic kidney disease:HDL
cholesterol:LDL cholesterol:Gene expression of C21orf57 (probeID
ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease
cases and controls |
|
21 |
47970581 |
2 |
DIP2A |
G |
A |
exonic |
synonymous SNV |
DIP2A:NM_001146116:exon23:c.G2751A:p.T917T,DIP2A:NM_015151:exon23:c.G2763A:p.T921T |
RS2255397 |
Gene expression of C21orf56 [probe
223360_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Irritible
bowel syndrome:Gene expression of SMC6 in peripheral blood monocytes:Gene
expression of PRMT2 in peripheral blood monocytes:Partial epilepsy:Gene
expression of DIP2A in blood:Gene expression of PRMT2 in blood:Advanced
age-related macular degeneration (geographic atrophy):Gene expression change
of DIP2A (ENSG00000160305) in dendritic cells after treatment with
Mycobacterium tuberculosis:Birth weight:Tetrology of fallot:Advanced
age-related macular degeneration |
|
21 |
47974582 |
2 |
DIP2A |
A |
G |
exonic |
synonymous SNV |
DIP2A:NM_001146116:exon27:c.A3237G:p.T1079T,DIP2A:NM_015151:exon27:c.A3249G:p.T1083T |
|
21 |
48063476 |
2 |
PRMT2 |
C |
G |
exonic |
synonymous SNV |
PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001286676:exon3:c.C69G:p.A23A,PRMT2:NM_001286677:exon3:c.C69G:p.A23A,PRMT2:NM_001286678:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A |
|
22 |
18209613 |
2 |
BCL2L13 |
A |
G |
exonic |
synonymous SNV |
BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S |
RS4488761 |
Stabilized warfarin dose:Gene
expression of BCL2L13 in blood:Gene expression of BID in blood:Comorbid
depressive syndrome and alcohol dependence:Aortic valve calcium |
|
22 |
18300240 |
2 |
MICAL3 |
T |
C |
exonic |
synonymous SNV |
MICAL3:NM_015241:exon26:c.A5187G:p.L1729L |
RS5992854 |
Triglycerides:Years of
education:Aortic valve calcium:Mitral annular calcium |
|
22 |
18304821 |
2 |
MICAL3 |
G |
A |
exonic |
synonymous SNV |
MICAL3:NM_015241:exon24:c.C3423T:p.P1141P |
|
22 |
18304891 |
2 |
MICAL3 |
C |
T |
exonic |
nonsynonymous SNV |
MICAL3:NM_015241:exon24:c.G3353A:p.R1118H |
|
22 |
19026613 |
2 |
DGCR2 |
A |
G |
exonic |
nonsynonymous SNV |
DGCR2:NM_001173533:exon9:c.T1295C:p.V432A,DGCR2:NM_001173534:exon9:c.T1286C:p.V429A,DGCR2:NM_001184781:exon10:c.T1409C:p.V470A,DGCR2:NM_005137:exon10:c.T1418C:p.V473A |
RS2072123 |
Differential exon level expression
of DGCR2 [probe 3952460] in brain cortex:Differential exon level expression
of DGCR2 [probe 3952460] in peripheral blood mononuclear cells:Gene
expression of DGCR2 [probe 3952453] in peripheral blood mononuclear cells:Serum
creatinine:Asthma:Waist hip ratio:Gene expression of DGCR2 in blood:Gene
expression of DGCR11 [probeset 215725_at] in sputum:Bipolar disorder |
|
22 |
19122665 |
2 |
DGCR14 |
C |
T |
exonic |
synonymous SNV |
DGCR14:NM_022719:exon9:c.G1059A:p.E353E |
|
22 |
19165478 |
2 |
SLC25A1 |
A |
G |
exonic |
synonymous SNV |
SLC25A1:NM_001256534:exon2:c.T300C:p.G100G,SLC25A1:NM_005984:exon3:c.T279C:p.G93G |
RS2070255 |
HDL cholesterol:Refractive error |
|
22 |
19170956 |
2 |
CLTCL1 |
C |
T |
exonic |
nonsynonymous SNV |
CLTCL1:NM_001835:exon29:c.G4603A:p.V1535M,CLTCL1:NM_007098:exon30:c.G4774A:p.V1592M |
RS2073738 |
Total cholesterol:Body mass index
(BMI) |
|
22 |
19197896 |
2 |
CLTCL1 |
T |
C |
exonic |
synonymous SNV |
CLTCL1:NM_001835:exon20:c.A3189G:p.A1063A,CLTCL1:NM_007098:exon20:c.A3189G:p.A1063A |
RS698423 |
Serum Cit:Serum Lac/Cit |
|
22 |
19230365 |
2 |
CLTCL1 |
T |
C |
exonic |
nonsynonymous SNV |
CLTCL1:NM_001835:exon4:c.A614G:p.K205R,CLTCL1:NM_007098:exon4:c.A614G:p.K205R |
RS5746697 |
Body mass index (BMI) |
|
22 |
19263214 |
2 |
CLTCL1 |
G |
A |
exonic |
nonsynonymous SNV |
CLTCL1:NM_001835:exon2:c.C182T:p.P61L,CLTCL1:NM_007098:exon2:c.C182T:p.P61L |
RS3747059 |
Body mass index (BMI) |
|
22 |
19468514 |
2 |
CDC45 |
T |
C |
exonic |
synonymous SNV |
CDC45:NM_001178010:exon3:c.T150C:p.V50V,CDC45:NM_001178011:exon3:c.T150C:p.V50V,CDC45:NM_003504:exon3:c.T150C:p.V50V |
|
22 |
19868218 |
2 |
TXNRD2 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS1139793 |
Barnes Akathisia Rating Scale |
|
22 |
19882984 |
2 |
TXNRD2 |
T |
G |
exonic |
nonsynonymous SNV |
TXNRD2:NM_001282512:exon11:c.A895C:p.S299R |
RS5992495 |
Schizophrenia:Fasting blood
glucose:Asthma:Lp-PLA2 activity:College completion |
|
22 |
19906511 |
2 |
TXNRD2 |
G |
A |
exonic |
synonymous SNV |
TXNRD2:NM_001282512:exon4:c.C246T:p.L82L |
RS11541479 |
Variant Creutzfeldt-Jakob
disease:Gene expression of ARVCF (ENSG00000099889) in dendritic cells treated
with Mycobacterium tuberculosis:Refractive error:Gene expression of COMT
(ENSG00000093010) in dendritic cells:Birth weight |
|
22 |
19950235 |
2 |
COMT |
C |
T |
exonic |
synonymous SNV |
COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H |
RS4633 |
Coronary artery disease
(CAD):Irritible bowel syndrome:Simpson-Angus Scale:Major depressive disorder
(broad definition):Major depressive disorder (narrow definition):Recurrent
early onset major depressive disorder (broad definition):Recurrent early
onset major depressive disorder (narrow definition):Serum creatinine:Total
cholesterol:Triglycerides:Systolic blood pressure (SBP):Coronary artery
disease (CAD) |
|
22 |
19951271 |
2 |
COMT |
G |
A |
exonic |
nonsynonymous SNV |
COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M |
RS4680 |
Simpson-Angus Scale:Serum
creatinine:Total cholesterol:Triglycerides:Height:Longevity:Systolic blood
pressure (SBP):Attention-deficit/hyperactivity disorder (ADHD) in
adolescents:Coronary artery disease (CAD) |
|
22 |
19959473 |
2 |
ARVCF |
C |
T |
exonic |
nonsynonymous SNV |
ARVCF:NM_001670:exon18:c.G2717A:p.R906Q |
RS165815 |
Simpson-Angus Scale:Gene expression
of GNB1L in blood:Advanced age-related macular degeneration:Change in
depression severity with Norepinephrine reuptake inhibitors (NRI) |
|
22 |
19968971 |
2 |
ARVCF |
G |
A |
exonic |
nonsynonymous SNV |
ARVCF:NM_001670:exon5:c.C659T:p.P220L |
RS2073748 |
Autism with low IQ |
|
22 |
19969075 |
2 |
ARVCF |
A |
G |
exonic |
synonymous SNV |
ARVCF:NM_001670:exon5:c.T555C:p.S185S |
RS2073747 |
HOMA-IR:Serum creatinine:Total
cholesterol:Systolic blood pressure (SBP) |
|
22 |
19969106 |
2 |
ARVCF |
A |
G |
exonic |
nonsynonymous SNV |
ARVCF:NM_001670:exon5:c.T524C:p.V175A |
RS2240717 |
Systolic blood pressure
(SBP):Coronary artery disease (CAD):Advanced age-related macular degeneration
(geographic atrophy) |
|
22 |
20074785 |
2 |
DGCR8 |
C |
T |
exonic |
nonsynonymous SNV |
DGCR8:NM_001190326:exon3:c.C821T:p.P274L,DGCR8:NM_022720:exon3:c.C821T:p.P274L |
|
22 |
21088806 |
1 |
PI4KA |
C |
T |
exonic |
synonymous SNV |
PI4KA:NM_058004:exon33:c.G3777A:p.T1259T |
|
22 |
21134023 |
2 |
SERPIND1 |
G |
A |
exonic |
synonymous SNV |
SERPIND1:NM_000185:exon2:c.G423A:p.L141L |
|
22 |
21213416 |
2 |
SNAP29 |
A |
G |
exonic |
synonymous SNV |
SNAP29:NM_004782:exon1:c.A18G:p.K6K |
RS1061064 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
22 |
21330787 |
2 |
AIFM3 |
C |
T |
exonic |
synonymous SNV |
AIFM3:NM_001018060:exon11:c.C990T:p.A330A,AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A |
|
22 |
21354970 |
2 |
THAP7 |
C |
G |
exonic |
nonsynonymous SNV |
THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P |
|
22 |
21800042 |
2 |
HIC2 |
T |
C |
exonic |
synonymous SNV |
HIC2:NM_015094:exon3:c.T858C:p.A286A |
|
22 |
21800444 |
2 |
HIC2 |
T |
C |
exonic |
synonymous SNV |
HIC2:NM_015094:exon3:c.T1260C:p.H420H |
|
22 |
22277571 |
2 |
PPM1F |
A |
C |
exonic |
nonsynonymous SNV |
PPM1F:NM_014634:exon8:c.T1259G:p.L420R |
|
22 |
23627369 |
2 |
BCR |
A |
G |
exonic |
nonsynonymous SNV |
BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S |
RS140504 |
Delayed Story Recall:LDL
cholesterol:Gene expression of RAB36 in blood:Aortic valve
calcium:Adiponectin levels:Salmonella-induced pyroptosis |
|
22 |
24108412 |
2 |
CHCHD10 |
G |
A |
exonic |
synonymous SNV |
CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y |
RS9153 |
Gene expression of VPREB3 (probeID
ILMN_1700147) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of VPREB3 (probeID ILMN_1700147) in cerebellum in
Alzheimer's disease cases and controls |
|
22 |
24459438 |
2 |
CABIN1 |
T |
C |
exonic |
synonymous SNV |
CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C |
RS762273 |
Obesity with early age of onset (age
>2):Amyotrophic lateral sclerosis (ALS) |
|
22 |
24581145 |
2 |
SUSD2 |
C |
T |
exonic |
nonsynonymous SNV |
SUSD2:NM_019601:exon6:c.C866T:p.A289V |
|
22 |
24717850 |
2 |
SPECC1L |
A |
G |
exonic |
nonsynonymous SNV |
SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G |
RS204710 |
Prostate cancer |
|
22 |
24761467 |
2 |
SPECC1L |
G |
A |
exonic |
nonsynonymous SNV |
SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M |
RS204718 |
Prostate cancer |
|
22 |
24837301 |
2 |
ADORA2A |
T |
C |
exonic |
synonymous SNV |
ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278498:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278499:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278500:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278497:exon4:c.T1083C:p.Y361Y |
|
22 |
24964128 |
2 |
SNRPD3 |
T |
C |
exonic |
synonymous SNV |
SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A |
|
22 |
24988920 |
2 |
LRRC75B |
C |
T |
exonic |
synonymous SNV |
LRRC75B:NM_207644:exon1:c.G87A:p.E29E |
|
22 |
25019155 |
2 |
GGT1 |
T |
C |
exonic |
nonsynonymous SNV |
GGT1:NM_001288833:exon10:c.T815C:p.V272A,GGT1:NM_013430:exon10:c.T815C:p.V272A,GGT1:NM_013421:exon11:c.T815C:p.V272A |
|
22 |
25425340 |
2 |
KIAA1671 |
T |
C |
exonic |
synonymous SNV |
KIAA1671:NM_001145206:exon1:c.T1374C:p.S458S |
|
22 |
25436904 |
2 |
KIAA1671 |
T |
C |
exonic |
synonymous SNV |
KIAA1671:NM_001145206:exon3:c.T3807C:p.N1269N |
RS1040421 |
APOA2 (apolipoprotein AII):Waist hip
ratio |
|
22 |
25753321 |
2 |
LRP5L |
G |
A |
exonic |
synonymous SNV |
LRP5L:NM_182492:exon2:c.C339T:p.R113R,LRP5L:NM_001135772:exon4:c.C339T:p.R113R |
RS9624807 |
LDL cholesterol:HDL cholesterol
change with statins:Total cholesterol:LDL cholesterol:College
completion:Mitral annular calcium:Refractive error |
|
22 |
26853905 |
2 |
HPS4 |
C |
A |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_001349896:exon13:c.G1875T:p.Q625H,HPS4:NM_001349899:exon13:c.G1875T:p.Q625H,HPS4:NM_001349904:exon13:c.G1875T:p.Q625H,HPS4:NM_001349905:exon13:c.G1875T:p.Q625H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H,HPS4:NM_001349898:exon14:c.G1875T:p.Q625H,HPS4:NM_001349900:exon14:c.G1929T:p.Q643H,HPS4:NM_001349901:exon14:c.G1929T:p.Q643H |
RS1894704 |
Schizophrenia:Total
cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru
exposure:Advanced age-related macular degeneration (geographic atrophy) |
|
22 |
26854441 |
2 |
HPS4 |
G |
A |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_001349896:exon12:c.C1816T:p.H606Y,HPS4:NM_001349899:exon12:c.C1816T:p.H606Y,HPS4:NM_001349904:exon12:c.C1816T:p.H606Y,HPS4:NM_001349905:exon12:c.C1816T:p.H606Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y,HPS4:NM_001349898:exon13:c.C1816T:p.H606Y,HPS4:NM_001349900:exon13:c.C1870T:p.H624Y,HPS4:NM_001349901:exon13:c.C1870T:p.H624Y |
RS1894706 |
Schizophrenia:Total
cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru
exposure:Advanced age-related macular degeneration (geographic atrophy) |
|
22 |
26859942 |
2 |
HPS4 |
C |
T |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_001349896:exon11:c.G1654A:p.V552M,HPS4:NM_001349899:exon11:c.G1654A:p.V552M,HPS4:NM_001349902:exon11:c.G1654A:p.V552M,HPS4:NM_001349903:exon11:c.G1654A:p.V552M,HPS4:NM_001349904:exon11:c.G1654A:p.V552M,HPS4:NM_001349905:exon11:c.G1654A:p.V552M,HPS4:NM_022081:exon11:c.G1654A:p.V552M,HPS4:NM_001349898:exon12:c.G1654A:p.V552M,HPS4:NM_001349900:exon12:c.G1708A:p.V570M,HPS4:NM_001349901:exon12:c.G1708A:p.V570M |
RS5752330 |
Gene expression of
CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease |
|
22 |
26884039 |
2 |
SRRD |
G |
A |
exonic |
nonsynonymous SNV |
SRRD:NM_001013694:exon3:c.G295A:p.A99T |
RS4820682 |
Stabilized warfarin dose:Gene
expression of CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and
alcohol dependence:Sporadic Creutzfeldt-Jakob disease |
|
22 |
26937327 |
2 |
TPST2 |
C |
A |
exonic |
synonymous SNV |
TPST2:NM_001008566:exon3:c.G270T:p.A90A,TPST2:NM_003595:exon3:c.G270T:p.A90A |
|
22 |
28378688 |
2 |
TTC28 |
C |
G |
exonic |
nonsynonymous SNV |
TTC28:NM_001145418:exon23:c.G6967C:p.A2323P |
RS9613558 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
22 |
29446611 |
2 |
ZNRF3 |
A |
C |
exonic |
synonymous SNV |
ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P,ZNRF3:NM_032173:exon8:c.A2142C:p.P714P |
|
22 |
29656389 |
2 |
RHBDD3 |
G |
T |
exonic |
synonymous SNV |
RHBDD3:NM_001329536:exon6:c.C909A:p.A303A,RHBDD3:NM_012265:exon6:c.C909A:p.A303A |
|
22 |
29704125 |
2 |
GAS2L1 |
C |
T |
exonic |
synonymous SNV |
GAS2L1:NM_001278730:exon2:c.C30T:p.G10G |
|
22 |
29727886 |
2 |
AP1B1 |
T |
C |
exonic |
nonsynonymous SNV |
AP1B1:NM_001166019:exon17:c.A2248G:p.T750A,AP1B1:NM_145730:exon17:c.A2308G:p.T770A,AP1B1:NM_001127:exon18:c.A2329G:p.T777A |
|
22 |
29908072 |
2 |
THOC5 |
C |
T |
exonic |
nonsynonymous SNV |
THOC5:NM_001002879:exon18:c.G1735A:p.V579I,THOC5:NM_003678:exon18:c.G1735A:p.V579I,THOC5:NM_001002877:exon19:c.G1735A:p.V579I,THOC5:NM_001002878:exon19:c.G1735A:p.V579I |
RS1049534 |
Fasting insulin:HOMA-IR:HOMA-B:Gene
expression of THOC5 (ENSG00000100296) in dendritic cells treated with
Mycobacterium tuberculosis |
|
22 |
29913272 |
2 |
THOC5 |
C |
T |
exonic |
nonsynonymous SNV |
THOC5:NM_001002879:exon16:c.G1573A:p.V525I,THOC5:NM_003678:exon16:c.G1573A:p.V525I,THOC5:NM_001002877:exon17:c.G1573A:p.V525I,THOC5:NM_001002878:exon17:c.G1573A:p.V525I |
RS737976 |
Hip bone mineral density
(BMD):Simpson-Angus Scale:Triglycerides change with statins:Body mass index
(BMI):Gene expression of NIPSNAP1 in blood:Gene expression of THOC5 in
blood:Gene expression of NIPSNAP1 (ENSG00000184117) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of THOC5 in normal
prepouch ileum:Years of education:Endometriosis |
|
22 |
30688659 |
2 |
TBC1D10A |
C |
T |
exonic |
nonsynonymous SNV |
TBC1D10A:NM_001204240:exon9:c.G1253A:p.R418H,TBC1D10A:NM_031937:exon9:c.G1232A:p.R411H |
RS4823086 |
Serum creatinine:Autism:Diastolic
blood pressure (DBP) |
|
22 |
30733111 |
2 |
SF3A1 |
C |
A |
exonic |
synonymous SNV |
SF3A1:NM_005877:exon13:c.G2010T:p.V670V |
|
22 |
30776095 |
2 |
RNF215 |
C |
T |
exonic |
nonsynonymous SNV |
RNF215:NM_001017981:exon7:c.G964A:p.A322T |
RS5749088 |
Autism:Total cholesterol:Waist hip
ratio:Parkinson's disease |
|
22 |
30953295 |
2 |
GAL3ST1 |
C |
T |
exonic |
nonsynonymous SNV |
GAL3ST1:NM_001318103:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318105:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318109:exon2:c.G160A:p.V54M,GAL3ST1:NM_001318111:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318112:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318114:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318104:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318106:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318107:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318108:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318110:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318113:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318115:exon3:c.G85A:p.V29M,GAL3ST1:NM_004861:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318116:exon4:c.G85A:p.V29M |
RS2267161 |
Spine bone mineral density
(BMD):Premature ovarian failure:Total cholesterol change with statins:LDL
cholesterol change with statins:Gene expression of TCN2 in peripheral blood
monocytes:Gene expression of SEC14L3 [probe ILMN_24718] in osteoblasts treated
with pge-2:Late onset Alzheimer's disease:Gene expression of SLC35E4///DUSP18
in blood:Gene expression of TCN2 in blood:Sporadic Creutzfeldt-Jakob
disease:Amyotrophic lateral sclerosis (ALS) |
|
22 |
31333631 |
2 |
MORC2 |
T |
C |
exonic |
synonymous SNV |
MORC2:NM_001303256:exon15:c.A1437G:p.P479P,MORC2:NM_001303257:exon15:c.A1437G:p.P479P,MORC2:NM_014941:exon16:c.A1251G:p.P417P |
RS3747151 |
Gene expression of TUG1 [probe
222244_s_at] in lymphoblastoid cell lines:Aortic valve calcium |
|
22 |
31342376 |
2 |
MORC2 |
G |
C |
exonic |
synonymous SNV |
MORC2:NM_001303256:exon6:c.C378G:p.T126T,MORC2:NM_001303257:exon6:c.C378G:p.T126T,MORC2:NM_014941:exon7:c.C192G:p.T64T |
RS2072132 |
Waist hip ratio:Years of
education:Aortic valve calcium |
|
22 |
31663842 |
2 |
LIMK2 |
C |
G |
exonic |
synonymous SNV |
LIMK2:NM_001031801:exon9:c.C1146G:p.L382L,LIMK2:NM_016733:exon9:c.C1146G:p.L382L,LIMK2:NM_005569:exon10:c.C1209G:p.L403L |
|
22 |
31673092 |
1 |
LIMK2 |
C |
G |
exonic |
nonsynonymous SNV |
LIMK2:NM_001031801:exon15:c.C2027G:p.A676G |
|
22 |
31679110 |
2 |
PIK3IP1 |
G |
C |
exonic |
nonsynonymous SNV |
PIK3IP1:NM_052880:exon6:c.C752G:p.T251S |
RS2040533 |
HOMA-IR:Fasting insulin:College
completion |
|
22 |
31971258 |
2 |
SFI1 |
T |
C |
exonic |
nonsynonymous SNV |
SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_014775:exon10:c.T964C:p.Y322H |
RS5753700 |
2 hour glucose:HDL cholesterol:Gene
expression of PIK3IP1 in peripheral blood monocytes:Height |
|
22 |
31998612 |
2 |
SFI1 |
G |
A |
exonic |
nonsynonymous SNV |
SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001007467:exon17:c.G1646A:p.R549Q |
RS2006771 |
Fasting blood glucose:HOMA-IR:Waist
hip ratio:Gene expression of SFI1///PISD in blood:Gene expression of PISD in
blood:Gene expression of SFI1 in blood:Primary rhegmatogenous retinal
detachment |
|
22 |
32795641 |
2 |
RTCB |
C |
T |
exonic |
synonymous SNV |
RTCB:NM_014306:exon6:c.G603A:p.Q201Q |
RS5749426 |
PROP taste detection threshold:Gene
expression of RFPL3S (probeID ILMN_2401263) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of RFPL3S (probeID ILMN_2401263)
in temporal cortex in Alzheimer's disease cases and controls |
|
22 |
33253280 |
2 |
TIMP3 |
T |
C |
exonic |
synonymous SNV |
TIMP3:NM_000362:exon3:c.T249C:p.H83H |
RS9862 |
Triglycerides:Partial epilepsy |
|
22 |
35660875 |
2 |
HMGXB4 |
G |
T |
exonic |
nonsynonymous SNV |
HMGXB4:NM_001003681:exon5:c.G494T:p.G165V |
RS1053593 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Differential exon level expression of
HMG2L1 [probe 3944078] in brain cortex:Differential exon level expression of
HMG2L1 [probe 3944054] in brain cortex:Differential exon level expression of
HMG2L1 [probe 3944052] in brain cortex:Gene expression of HMG2L1 [probe
3944046] in brain cortex:Fasting insulin:HOMA-IR:Fasting blood glucose:LDL
cholesterol:Triglycerides:Total cholesterol:Waist hip ratio:Gene expression
of TOM1 in blood:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Comorbid depressive syndrome and alcohol dependence |
|
22 |
36623731 |
2 |
APOL2 |
T |
C |
exonic |
nonsynonymous SNV |
APOL2:NM_030882:exon5:c.A733G:p.I245V,APOL2:NM_145637:exon6:c.A733G:p.I245V |
RS132760 |
Cystatin C in serum |
|
22 |
36661330 |
2 |
APOL1 |
G |
A |
exonic |
nonsynonymous SNV |
APOL1:NM_001136541:exon5:c.G394A:p.E132K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K |
RS2239785 |
Arthritis including
non-Rheumatoid:Focal segmental glomerulosclerosis:Neuroblastoma (brain
cancer):Adiponectin levels |
|
22 |
36661536 |
2 |
APOL1 |
C |
A |
exonic |
synonymous SNV |
APOL1:NM_001136541:exon5:c.C600A:p.A200A,APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_145343:exon7:c.C702A:p.A234A |
RS136174 |
Adiponectin levels |
|
22 |
36661566 |
2 |
APOL1 |
G |
A |
exonic |
nonsynonymous SNV |
APOL1:NM_001136541:exon5:c.G630A:p.M210I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I |
RS136175 |
Arthritis including
non-Rheumatoid:Partial epilepsy:Focal segmental
glomerulosclerosis:Neuroblastoma (brain cancer):Adiponectin levels |
|
22 |
36661646 |
2 |
APOL1 |
G |
A |
exonic |
nonsynonymous SNV |
APOL1:NM_001136541:exon5:c.G710A:p.R237K,APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K |
RS136176 |
Arthritis including
non-Rheumatoid:Partial epilepsy:Focal segmental
glomerulosclerosis:Neuroblastoma (brain cancer):Adiponectin levels |
|
22 |
36661842 |
2 |
APOL1 |
G |
A |
exonic |
synonymous SNV |
APOL1:NM_001136541:exon5:c.G906A:p.R302R,APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_145343:exon7:c.G1008A:p.R336R |
RS136177 |
Adiponectin levels |
|
22 |
36691607 |
2 |
MYH9 |
A |
C |
exonic |
synonymous SNV |
MYH9:NM_002473:exon26:c.T3429G:p.A1143A |
RS710181 |
Chronic kidney
disease:Microalbuminuria:Systolic blood pressure (SBP) |
|
22 |
36702015 |
2 |
MYH9 |
C |
T |
exonic |
nonsynonymous SNV |
MYH9:NM_002473:exon17:c.G2120A:p.G707D |
|
22 |
37453452 |
2 |
KCTD17 |
C |
T |
exonic |
synonymous SNV |
KCTD17:NM_001282684:exon4:c.C426T:p.H142H,KCTD17:NM_001282685:exon4:c.C426T:p.H142H,KCTD17:NM_001282686:exon4:c.C426T:p.H142H,KCTD17:NM_024681:exon4:c.C426T:p.H142H |
|
22 |
37462173 |
2 |
TMPRSS6 |
C |
T |
exonic |
nonsynonymous SNV |
TMPRSS6:NM_001289001:exon18:c.G2356A:p.V786I,TMPRSS6:NM_153609:exon18:c.G2383A:p.V795I,TMPRSS6:NM_001289000:exon19:c.G2422A:p.V808I |
|
22 |
37471290 |
2 |
TMPRSS6 |
G |
A |
exonic |
synonymous SNV |
TMPRSS6:NM_001289000:exon11:c.C1227T:p.Y409Y,TMPRSS6:NM_001289001:exon11:c.C1227T:p.Y409Y,TMPRSS6:NM_153609:exon11:c.C1254T:p.Y418Y |
|
22 |
37499386 |
2 |
TMPRSS6 |
C |
T |
exonic |
synonymous SNV |
TMPRSS6:NM_001289000:exon2:c.G72A:p.P24P,TMPRSS6:NM_001289001:exon2:c.G72A:p.P24P,TMPRSS6:NM_153609:exon2:c.G99A:p.P33P |
RS11704654 |
Mitral annular calcium |
|
22 |
37581422 |
2 |
C1QTNF6 |
G |
C |
exonic |
nonsynonymous SNV |
C1QTNF6:NM_031910:exon2:c.C125G:p.P42R,C1QTNF6:NM_182486:exon2:c.C125G:p.P42R |
RS229526 |
Triglycerides change with
statins:Gene expression of C1QTNF6 in peripheral blood monocytes:Body mass
index (BMI):Type 1 diabetes:Adiponectin levels:Hypothyroidism |
|
22 |
38051493 |
2 |
SH3BP1 |
G |
T |
exonic |
synonymous SNV |
SH3BP1:NM_018957:exon18:c.G1908T:p.R636R |
|
22 |
38204089 |
2 |
GCAT |
C |
T |
exonic |
nonsynonymous SNV |
GCAT:NM_001171690:exon1:c.C115T:p.R39C,GCAT:NM_014291:exon1:c.C115T:p.R39C |
RS710187 |
Total cholesterol change with
statins:Total cholesterol:LDL cholesterol:Height:Parkinson's disease |
|
22 |
38506509 |
2 |
BAIAP2L2 |
A |
G |
exonic |
synonymous SNV |
BAIAP2L2:NM_025045:exon1:c.T24C:p.F8F |
|
22 |
38877461 |
2 |
KDELR3 |
T |
G |
exonic |
nonsynonymous SNV |
KDELR3:NM_006855:exon4:c.T596G:p.V199G,KDELR3:NM_016657:exon4:c.T596G:p.V199G |
RS12004 |
Gene expression of TOMM22 in
abdominal adipose |
|
22 |
39069181 |
2 |
CBY1 |
T |
C |
exonic |
synonymous SNV |
CBY1:NM_015373:exon5:c.T321C:p.A107A,CBY1:NM_001002880:exon6:c.T450C:p.A150A |
RS3747174 |
LDL cholesterol change with
statins:Rheumatoid arthritis:Triglycerides:Height:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no
AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG |
|
22 |
39134715 |
2 |
SUN2 |
T |
C |
exonic |
synonymous SNV |
SUN2:NM_001199579:exon16:c.A1887G:p.Q629Q,SUN2:NM_015374:exon16:c.A1824G:p.Q608Q,SUN2:NM_001199580:exon17:c.A1824G:p.Q608Q |
|
22 |
39178701 |
2 |
DNAL4 |
A |
G |
exonic |
synonymous SNV |
DNAL4:NM_005740:exon2:c.T36C:p.D12D |
RS760482 |
LDL cholesterol:Rheumatoid
arthritis:Gene expression of CBX6 in peripheral blood monocytes |
|
22 |
39222652 |
2 |
NPTXR |
G |
A |
exonic |
synonymous SNV |
NPTXR:NM_014293:exon3:c.C951T:p.Y317Y |
RS5757299 |
Rheumatoid arthritis:Gene
expression of CBX6 in peripheral blood monocytes:Total cholesterol |
|
22 |
39382079 |
2 |
APOBEC3B |
C |
A |
exonic |
nonsynonymous SNV |
APOBEC3B:NM_001270411:exon3:c.C437A:p.T146K,APOBEC3B:NM_004900:exon3:c.C437A:p.T146K |
|
22 |
41833116 |
2 |
TOB2 |
C |
T |
exonic |
synonymous SNV |
TOB2:NM_016272:exon2:c.G234A:p.A78A |
RS202641 |
Fasting blood glucose:Serum
creatinine:Cystatin C in serum:Height:Microalbuminuria:Birth weight |
|
22 |
41911525 |
2 |
ACO2 |
C |
T |
exonic |
synonymous SNV |
ACO2:NM_001098:exon5:c.C670T:p.L224L |
RS1799932 |
Irritible bowel
syndrome:Schizophrenia:Fasting blood glucose:Chronic kidney disease:Serum
creatinine:Height:Microalbuminuria:Gene expression of ZC3H7B [transcript
NM_017590, probe A_23_P218807] in liver:Gene expression of RP3-347H13.6 in
blood:Gene expression of MEI1 in blood:Gene expression of NHP2L1 in
blood:Sporadic Creutzfeldt-Jakob disease:Gene expression change of PMM1
(ENSG00000100417) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of POLR3H (ENSG00000100413) in dendritic
cells:Gene expression change of POLR3H (ENSG00000100413) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of CCDC134 in
normal prepouch ileum:Birth weight |
|
22 |
42059768 |
2 |
XRCC6 |
G |
T |
exonic |
synonymous SNV |
XRCC6:NM_001288978:exon12:c.G1629T:p.G543G,XRCC6:NM_001288976:exon13:c.G1779T:p.G593G,XRCC6:NM_001288977:exon13:c.G1656T:p.G552G,XRCC6:NM_001469:exon13:c.G1779T:p.G593G |
RS132788 |
Total cholesterol:Chronic kidney
disease:Birth weight |
|
22 |
42089623 |
2 |
C22orf46 |
T |
C |
exonic |
nonsynonymous SNV |
C22orf46:NM_001142964:exon2:c.T373C:p.W125R |
|
22 |
42274034 |
2 |
SREBF2 |
G |
T |
exonic |
synonymous SNV |
SREBF2:NM_004599:exon9:c.G1668T:p.L556L |
|
22 |
42463814 |
2 |
NAGA |
C |
T |
exonic |
synonymous SNV |
NAGA:NM_000262:exon3:c.G279A:p.P93P |
RS133369 |
Gene expression of C22orf32 [probe
225795_at] in lymphoblastoid cell lines:Gene expression of C22orf32 [probe
225794_s_at] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Methylation
levels at chr22:40796291-40796341 [hg18 coord, probe cg27187881] in Caudal
pons:Methylation levels at chr22:40796291-40796341 [hg18 coord, probe
cg27187881] in Temporal cortex:Height:Gene expression of C22orf32 in normal
prepouch ileum:Salmonella-induced pyroptosis |
|
22 |
42523943 |
2 |
CYP2D6 |
A |
G |
exonic |
nonsynonymous SNV |
CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,CYP2D6:NM_000106:exon6:c.T886C:p.C296R |
|
22 |
42912097 |
2 |
RRP7A |
C |
T |
exonic |
nonsynonymous SNV |
RRP7A:NM_015703:exon3:c.G262A:p.V88I |
RS11553441 |
Chronic kidney disease:Gene
expression of SERHL (probeID ILMN_2289840) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of SERHL (probeID ILMN_2289840) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
RRP7A (probeID ILMN_1688178) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of RRP7A (probeID ILMN_1688178) in cerebellum in
Alzheimer's disease cases and controls |
|
22 |
43195147 |
2 |
ARFGAP3 |
A |
G |
exonic |
synonymous SNV |
ARFGAP3:NM_001142293:exon14:c.T1299C:p.S433S,ARFGAP3:NM_014570:exon15:c.T1431C:p.S477S |
|
22 |
43203137 |
2 |
ARFGAP3 |
C |
T |
exonic |
synonymous SNV |
ARFGAP3:NM_001142293:exon13:c.G1221A:p.S407S,ARFGAP3:NM_014570:exon14:c.G1353A:p.S451S |
RS738535 |
Gene expression of PACSIN2 [probe
1554691_a_at] in lymphoblastoid cell lines:Differential exon level expression
of ARFGAP3 [probe 3962619] in brain cortex:Differential exon level expression
of ARFGAP3 [probe 3962619] in peripheral blood mononuclear cells:Height:Gene
expression of PACSIN2 in blood:Gene expression of ARFGAP3 in blood:Birth
weight:College completion |
|
22 |
43278220 |
2 |
PACSIN2 |
C |
T |
exonic |
synonymous SNV |
PACSIN2:NM_001349974:exon6:c.G753A:p.P251P,PACSIN2:NM_001184970:exon7:c.G876A:p.P292P,PACSIN2:NM_001184971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349968:exon7:c.G876A:p.P292P,PACSIN2:NM_001349969:exon7:c.G876A:p.P292P,PACSIN2:NM_001349970:exon7:c.G876A:p.P292P,PACSIN2:NM_001349971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349972:exon7:c.G876A:p.P292P,PACSIN2:NM_001349973:exon7:c.G876A:p.P292P,PACSIN2:NM_007229:exon7:c.G876A:p.P292P |
RS2899365 |
Height:College completion |
|
22 |
43289473 |
2 |
PACSIN2 |
G |
A |
exonic |
synonymous SNV |
PACSIN2:NM_001349974:exon2:c.C84T:p.L28L,PACSIN2:NM_001184970:exon3:c.C207T:p.L69L,PACSIN2:NM_001184971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349968:exon3:c.C207T:p.L69L,PACSIN2:NM_001349969:exon3:c.C207T:p.L69L,PACSIN2:NM_001349970:exon3:c.C207T:p.L69L,PACSIN2:NM_001349971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349972:exon3:c.C207T:p.L69L,PACSIN2:NM_001349973:exon3:c.C207T:p.L69L,PACSIN2:NM_007229:exon3:c.C207T:p.L69L |
RS5759013 |
Height:College completion |
|
22 |
43459864 |
2 |
TTLL1 |
G |
A |
exonic |
synonymous SNV |
TTLL1:NM_012263:exon7:c.C702T:p.D234D |
RS2272870 |
HOMA-B:Chronic kidney disease |
|
22 |
43465814 |
2 |
TTLL1 |
A |
G |
exonic |
synonymous SNV |
TTLL1:NM_012263:exon4:c.T150C:p.V50V |
RS2076155 |
HOMA-B |
|
22 |
43558926 |
2 |
TSPO |
A |
G |
exonic |
nonsynonymous SNV |
TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A,TSPO:NM_001256531:exon4:c.A439G:p.T147A |
RS6971 |
Schizophrenia:Gene expression of
TSPO [probe 3947627] in peripheral blood mononuclear cells:Total
cholesterol:LDL cholesterol:Gene expression of CCNC in peripheral blood
monocytes:Gene expression of TSPO in blood:Gene expression of TSPO (probeID
ILMN_2349658) in cerebellum in non-Alzheimer's disease samples:Gene
expression of TSPO (probeID ILMN_2349658) in temporal cortex in Progressive
Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658) in
cerebellum in Alzheimer's disease cases:Infant head circumference:Gene
expression of TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's
disease cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's disease cases
and controls |
|
22 |
43558972 |
2 |
TSPO |
G |
A |
exonic |
nonsynonymous SNV |
TSPO:NM_000714:exon4:c.G485A:p.R162H,TSPO:NM_001256530:exon4:c.G485A:p.R162H,TSPO:NM_001256531:exon4:c.G485A:p.R162H |
RS6972 |
2 hour glucose:HDL cholesterol
change with statins:LDL cholesterol:Triglycerides:Waist hip ratio:Birth
weight |
|
22 |
43583051 |
2 |
TTLL12 |
G |
A |
exonic |
nonsynonymous SNV |
TTLL12:NM_015140:exon1:c.C25T:p.R9C |
|
22 |
44322970 |
2 |
PNPLA3 |
G |
T |
exonic |
nonsynonymous SNV |
PNPLA3:NM_025225:exon2:c.G343T:p.G115C |
RS2076212 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Fasting blood glucose:Total cholesterol change with
statins:Urinary albumin-to-creatinine ratio:Birth weight |
|
22 |
44324727 |
2 |
PNPLA3 |
C |
G |
exonic |
nonsynonymous SNV |
PNPLA3:NM_025225:exon3:c.C444G:p.I148M |
RS738409 |
HDL cholesterol:Total
cholesterol:Nonalcoholic fatty liver disease:Total cholesterol:HDL
cholesterol:LDL cholesterol:HDL cholesterol:SAMM50 cis expression in
subcutaneous fat:SAMM50 cis expression in omental fat:CT hepatic
steatosis:Nonalcoholic fatty liver disease:LDL cholesterol:Soluble
intercellular adhesion molecule 1 (ICAM-1):Alanine aminotransferase (ALT) in
plasma:Hepatic steatosis assessed by CT:Non-alcoholic fatty liver
disease:Alanine aminotransferase (ALT):Non-alcoholic fatty liver disease:Fibrosis
(brunt grade 1/2/3) in Nonalcoholic fatty liver disease:Fasting blood glucose
in Nonalcoholic fatty liver disease:Fatty liver:Non-alcoholic fatty liver
disease (Matteoni classification, Type 2 versus Type 4):Iron deposition
(0/1/2/3/4) in Nonalcoholic fatty liver disease:Fasting insulin in
Nonalcoholic fatty liver disease:Aspartate aminotransferase (AST) in
Nonalcoholic fatty liver disease:Ferritin in Nonalcoholic fatty liver
disease:Alanine aminotransferase (ALT) in Nonalcoholic fatty liver disease:Hepatocyte
ballooning in Nonalcoholic fatty liver disease:Triglycerides in Nonalcoholic
fatty liver disease:Hyaluronic acid in Nonalcoholic fatty liver
disease:Non-alcoholic fatty liver disease (Matteoni classification,
Type4):Non-alcoholic fatty liver disease activity score:Non-alcoholic fatty
liver disease (Matteoni classification, Type4 nonalcoholic
steatohepatitis):Non-alcoholic fatty liver disease (Matteoni classification,
Type 3 versus Type 4):Steatosis grade in Nonalcoholic fatty liver disease:Aspartate
aminotransferase (AST) in Nonalcoholic fatty liver disease:Non-alcoholic
fatty liver disease (Matteoni classification, Type 1 versus Type 4):Lobular
inflammation in Nonalcoholic fatty liver disease:Aspartate aminotransferase
(AST):Alanine aminotransferase (ALT) in Nonalcoholic fatty liver disease:Fat
deposition (1/2/3/4) in Nonalcoholic fatty liver disease:Non-alcoholic fatty
liver disease (Matteoni classification):Fibrosis in Nonalcoholic fatty liver
disease:Type IV collagen in Nonalcoholic fatty liver disease:Glycated
Hemoglobin (HbA1c) in Nonalcoholic fatty liver disease:Platelet count (PLT)
in Nonalcoholic fatty liver disease:Triglycerides in Nonalcoholic fatty liver
disease |
|
22 |
44324730 |
2 |
PNPLA3 |
C |
T |
exonic |
synonymous SNV |
PNPLA3:NM_025225:exon3:c.C447T:p.P149P |
RS738408 |
HDL cholesterol:Total
cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Fatty liver |
|
22 |
44342116 |
2 |
PNPLA3 |
A |
G |
exonic |
nonsynonymous SNV |
PNPLA3:NM_025225:exon9:c.A1300G:p.K434E |
RS2294918 |
Stabilized warfarin dose:HDL
cholesterol:Fasting blood glucose:Total cholesterol:Mitral annular calcium |
|
22 |
44379822 |
2 |
SAMM50 |
T |
C |
exonic |
synonymous SNV |
SAMM50:NM_015380:exon12:c.T1017C:p.L339L |
|
22 |
44379838 |
2 |
SAMM50 |
A |
G |
exonic |
nonsynonymous SNV |
SAMM50:NM_015380:exon12:c.A1033G:p.I345V |
RS8418 |
Childhood acute lymphoblastic
leukemia:Mitral annular calcium |
|
22 |
45128232 |
2 |
PRR5 |
T |
C |
exonic |
synonymous SNV |
PRR5:NM_001017529:exon6:c.T231C:p.R77R,PRR5:NM_001017530:exon6:c.T231C:p.R77R,PRR5:NM_181333:exon6:c.T516C:p.R172R,PRR5:NM_001017528:exon7:c.T489C:p.R163R,PRR5:NM_015366:exon7:c.T489C:p.R163R,PRR5:NM_001198721:exon8:c.T585C:p.R195R |
|
22 |
45132687 |
2 |
PRR5 |
G |
A |
exonic |
nonsynonymous SNV |
PRR5:NM_001017529:exon8:c.G442A:p.V148M,PRR5:NM_001017530:exon8:c.G442A:p.V148M,PRR5:NM_181333:exon8:c.G727A:p.V243M,PRR5:NM_001017528:exon9:c.G700A:p.V234M,PRR5:NM_015366:exon9:c.G700A:p.V234M,PRR5:NM_001198721:exon10:c.G796A:p.V266M |
|
22 |
45685002 |
2 |
UPK3A |
A |
G |
exonic |
synonymous SNV |
UPK3A:NM_006953:exon4:c.A549G:p.S183S |
RS1135360 |
Gene expression of UPK3A in normal
prepouch ileum:Birth weight |
|
22 |
45691594 |
2 |
UPK3A |
A |
G |
exonic |
synonymous SNV |
UPK3A:NM_001167574:exon4:c.A495G:p.Q165Q,UPK3A:NM_006953:exon6:c.A858G:p.Q286Q |
RS1057356 |
Fasting blood glucose:Rheumatoid
arthritis:Waist hip ratio:Obesity with early age of onset (age >2) |
|
22 |
45923827 |
2 |
FBLN1 |
A |
G |
exonic |
nonsynonymous SNV |
FBLN1:NM_001996:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006487:exon4:c.A422G:p.Q141R |
|
22 |
46677607 |
2 |
TTC38 |
T |
C |
exonic |
nonsynonymous SNV |
TTC38:NM_017931:exon7:c.T727C:p.F243L |
|
22 |
46722400 |
2 |
GTSE1 |
T |
C |
exonic |
nonsynonymous SNV |
GTSE1:NM_016426:exon9:c.T1573C:p.W525R |
|
22 |
47058992 |
2 |
GRAMD4 |
T |
C |
exonic |
synonymous SNV |
GRAMD4:NM_015124:exon6:c.T522C:p.F174F |
|
22 |
50277835 |
2 |
ZBED4 |
T |
C |
exonic |
synonymous SNV |
ZBED4:NM_014838:exon2:c.T525C:p.S175S |
RS910796 |
Fasting insulin |
|
22 |
50277883 |
2 |
ZBED4 |
A |
G |
exonic |
synonymous SNV |
ZBED4:NM_014838:exon2:c.A573G:p.P191P |
|
22 |
50278438 |
2 |
ZBED4 |
A |
G |
exonic |
synonymous SNV |
ZBED4:NM_014838:exon2:c.A1128G:p.P376P |
RS910798 |
Fasting insulin:HOMA-IR:Gene
expression of CRELD2 in peripheral blood monocytes |
|
22 |
50278568 |
2 |
ZBED4 |
A |
G |
exonic |
nonsynonymous SNV |
ZBED4:NM_014838:exon2:c.A1258G:p.I420V |
RS910799 |
Differential splicing of ALG12
[probeset 3965401] in lymphoblastoid cell lines:Chronic kidney
disease:Rheumatoid arthritis:Gene expression of CRELD2 in CD4+
lymphocytes:Gene expression of CRELD2 in blood:Variant Creutzfeldt-Jakob
disease:Tetrology of fallot |
|
22 |
50278642 |
2 |
ZBED4 |
C |
T |
exonic |
synonymous SNV |
ZBED4:NM_014838:exon2:c.C1332T:p.G444G |
RS910800 |
Differential splicing of ALG12
[probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney
disease |
|
22 |
50279574 |
2 |
ZBED4 |
C |
T |
exonic |
nonsynonymous SNV |
ZBED4:NM_014838:exon2:c.C2264T:p.S755L |
|
22 |
50280136 |
2 |
ZBED4 |
T |
C |
exonic |
synonymous SNV |
ZBED4:NM_014838:exon2:c.T2826C:p.A942A |
RS5770755 |
Differential splicing of ALG12
[probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney
disease |
|
22 |
50318061 |
2 |
CRELD2 |
G |
C |
exonic |
nonsynonymous SNV |
CRELD2:NM_001284317:exon7:c.G742C:p.E248Q,CRELD2:NM_024324:exon8:c.G826C:p.E276Q,CRELD2:NM_001135101:exon9:c.G973C:p.E325Q |
|
22 |
50356693 |
2 |
PIM3 |
T |
C |
exonic |
nonsynonymous SNV |
PIM3:NM_001001852:exon6:c.T899C:p.V300A |
RS4077129 |
PROP taste detection threshold |
|
22 |
50657010 |
2 |
TUBGCP6 |
C |
G |
exonic |
nonsynonymous SNV |
TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L |
|
22 |
50658698 |
2 |
TUBGCP6 |
T |
A |
exonic |
nonsynonymous SNV |
TUBGCP6:NM_020461:exon16:c.A4090T:p.S1364C |
RS5771107 |
HOMA-IR:Fasting insulin:HDL
cholesterol change with statins:Parkinson's disease |
|
22 |
50688348 |
2 |
HDAC10 |
A |
G |
exonic |
synonymous SNV |
HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C |
RS1555048 |
LDL cholesterol:2 hour
glucose:Cystatin C in serum:Rheumatoid arthritis:Gene expression of HDAC10 in
peripheral blood monocytes |
|
22 |
50694297 |
2 |
MAPK12 |
A |
G |
exonic |
synonymous SNV |
MAPK12:NM_001303252:exon7:c.T603C:p.S201S,MAPK12:NM_002969:exon8:c.T633C:p.S211S |
RS1129880 |
Differential exon level expression
of MAPK12 [probe 3965760] in brain cortex:Serum creatinine:Gene expression of
HDAC10 (ENSG00000100429) in dendritic cells |
|
22 |
50699668 |
2 |
MAPK12 |
A |
G |
exonic |
synonymous SNV |
MAPK12:NM_001303252:exon2:c.T183C:p.P61P,MAPK12:NM_002969:exon2:c.T183C:p.P61P |
RS2272857 |
Triglycerides:Methylation levels at
chr22:49042605-49042655 [hg18 coord, probe cg21974239] in Frontal
cortex:Urinary albumin-to-creatinine ratio:Years of education:Acute lung
injury following major trauma:Parkinson's disease |
|
22 |
50719251 |
2 |
PLXNB2 |
A |
G |
exonic |
synonymous SNV |
PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P |
|
22 |
50722134 |
2 |
PLXNB2 |
T |
C |
exonic |
nonsynonymous SNV |
PLXNB2:NM_012401:exon15:c.A2467G:p.I823V |
|
22 |
50877166 |
2 |
PPP6R2 |
G |
C |
exonic |
synonymous SNV |
PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351644:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351646:exon18:c.G2019C:p.A673A,PPP6R2:NM_001351648:exon18:c.G1536C:p.A512A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351641:exon19:c.G2106C:p.A702A,PPP6R2:NM_001351642:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351645:exon19:c.G2022C:p.A674A,PPP6R2:NM_001351647:exon19:c.G1617C:p.A539A,PPP6R2:NM_001351643:exon20:c.G2103C:p.A701A |
|
22 |
50882338 |
2 |
PPP6R2 |
G |
A |
exonic |
nonsynonymous SNV |
PPP6R2:NM_001242899:exon22:c.G2545A:p.A849T,PPP6R2:NM_001242900:exon22:c.G2545A:p.A849T,PPP6R2:NM_001351644:exon22:c.G2545A:p.A849T,PPP6R2:NM_001351646:exon22:c.G2539A:p.A847T,PPP6R2:NM_001351648:exon22:c.G2056A:p.A686T,PPP6R2:NM_014678:exon22:c.G2542A:p.A848T,PPP6R2:NM_001242898:exon23:c.G2623A:p.A875T,PPP6R2:NM_001351641:exon23:c.G2626A:p.A876T,PPP6R2:NM_001351642:exon23:c.G2626A:p.A876T,PPP6R2:NM_001351645:exon23:c.G2542A:p.A848T,PPP6R2:NM_001351647:exon23:c.G2137A:p.A713T,PPP6R2:NM_001351643:exon24:c.G2623A:p.A875T |
|
22 |
50895020 |
2 |
SBF1 |
C |
T |
exonic |
synonymous SNV |
SBF1:NM_002972:exon30:c.G3987A:p.A1329A |
|
22 |
50898026 |
2 |
SBF1 |
G |
A |
exonic |
synonymous SNV |
SBF1:NM_002972:exon27:c.C3561T:p.Y1187Y |
|
22 |
50901009 |
2 |
SBF1 |
C |
T |
exonic |
synonymous SNV |
SBF1:NM_002972:exon18:c.G2106A:p.T702T |
|
22 |
50941985 |
2 |
LMF2 |
T |
C |
exonic |
synonymous SNV |
LMF2:NM_033200:exon14:c.A1959G:p.Q653Q |
|
22 |
50942121 |
2 |
LMF2 |
C |
T |
exonic |
nonsynonymous SNV |
LMF2:NM_033200:exon14:c.G1823A:p.S608N |
|
22 |
50945256 |
2 |
LMF2 |
A |
G |
exonic |
synonymous SNV |
LMF2:NM_033200:exon2:c.T303C:p.P101P |
|
22 |
153581728 |
2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|