Chr |
Loc |
Genotype |
Gene |
Ref |
Alt |
Type |
Class |
Protein |
RS |
Phenotype |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
1 |
877831 |
2 |
SAMD11 |
T |
C |
exonic |
nonsynonymous SNV |
SAMD11:NM_152486:exon10:c.T1027C:p.W343R |
|
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 |
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 |
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 |
1374834 |
2 |
VWA1 |
A |
G |
exonic |
synonymous SNV |
VWA1:NM_022834:exon3:c.A1005G:p.P335P |
|
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 |
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 |
1650801 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11B:NM_001291345:exon4:c.A321G:p.E107E,CDK11A:NM_001313896:exon4:c.A321G:p.E107E,CDK11A:NM_001313982:exon4:c.A321G:p.E107E,CDK11B:NM_001787:exon4:c.A321G:p.E107E,CDK11A:NM_024011:exon4:c.A321G:p.E107E,CDK11B:NM_033486:exon4:c.A321G:p.E107E,CDK11A:NM_033529:exon4:c.A321G:p.E107E,CDK11B:NM_033489:exon5:c.A219G:p.E73E |
RS1137004 |
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 |
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 |
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 |
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 |
3428160 |
2 |
MEGF6 |
T |
G |
exonic |
synonymous SNV |
MEGF6:NM_001409:exon9:c.A1068C:p.T356T |
|
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 |
3807593 |
2 |
C1orf174 |
G |
C |
exonic |
nonsynonymous SNV |
C1orf174:NM_207356:exon3:c.C158G:p.T53R |
RS4274008 |
Birth weight |
|
1 |
6313938 |
2 |
GPR153 |
C |
T |
exonic |
nonsynonymous SNV |
GPR153:NM_207370:exon3:c.G626A:p.R209H |
|
1 |
6314822 |
2 |
GPR153 |
T |
C |
exonic |
synonymous SNV |
GPR153:NM_207370:exon2:c.A144G:p.T48T |
RS11590458 |
Gene expression of GPR153
(ENSG00000158292) in dendritic cells treated with Mycobacterium
tuberculosis:Adiponectin levels |
|
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 |
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 |
7887493 |
2 |
PER3 |
T |
C |
exonic |
nonsynonymous SNV |
PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P |
|
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 |
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 |
9859098 |
2 |
|
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 |
10713765 |
1 |
CASZ1 |
T |
C |
exonic |
synonymous SNV |
CASZ1:NM_001079843:exon11:c.A2349G:p.S783S,CASZ1:NM_017766:exon11:c.A2349G:p.S783S |
|
1 |
11087524 |
2 |
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 |
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 |
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 |
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 |
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 |
14109114 |
1 |
PRDM2 |
A |
G |
exonic |
synonymous SNV |
PRDM2:NM_001007257:exon3:c.A4221G:p.S1407S,PRDM2:NM_012231:exon8:c.A4824G:p.S1608S,PRDM2:NM_015866:exon8:c.A4824G:p.S1608S |
RS1203651 |
Bipolar disorder, gender
differentiated:Triglycerides:HDL cholesterol:Fasting blood glucose:LDL
cholesterol change with statins:HDL cholesterol:Asthma:Serum ratio of
(1-palmitoylglycerophosphoinositol*)/(dihomo-linolenate (20:3n3 or n6)):Serum
concentration of glycerol 2-phosphate:Sporadic Creutzfeldt-Jakob
disease:Resistance to kuru in aged women despite likely exposure |
|
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 |
15911349 |
1 |
AGMAT |
G |
A |
exonic |
synonymous SNV |
AGMAT:NM_024758:exon1:c.C114T:p.D38D |
|
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 |
16344360 |
2 |
HSPB7 |
A |
G |
exonic |
synonymous SNV |
HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A |
RS732286 |
HDL cholesterol:HDL
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of CLCNKA (probeID
ILMN_2364072) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of CLCNKA (probeID ILMN_2364072) in cerebellum in
Alzheimer's disease cases and controls |
|
1 |
16386008 |
2 |
FAM131C |
T |
C |
exonic |
synonymous SNV |
FAM131C:NM_182623:exon6:c.A543G:p.Q181Q |
|
1 |
16890606 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16890644 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16902823 |
1 |
NBPF1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16902884 |
1 |
NBPF1 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16907328 |
1 |
NBPF1 |
G |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16918502 |
1 |
NBPF1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
17263319 |
1 |
CROCC |
G |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon9:c.G1144T:p.A382S |
|
1 |
17263321 |
1 |
CROCC |
G |
C |
exonic |
synonymous SNV |
CROCC:NM_014675:exon9:c.G1146C:p.A382A |
|
1 |
17264200 |
2 |
CROCC |
A |
G |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon10:c.A1258G:p.N420D |
|
1 |
17265511 |
2 |
CROCC |
C |
T |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1482T:p.S494S |
|
1 |
17265532 |
2 |
CROCC |
C |
G |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1503G:p.P501P |
|
1 |
17274968 |
1 |
CROCC |
T |
C |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon18:c.T2657C:p.V886A |
|
1 |
17275337 |
1 |
CROCC |
C |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon19:c.C2752T:p.R918W |
|
1 |
17277485 |
2 |
CROCC |
A |
G |
exonic |
synonymous SNV |
CROCC:NM_014675:exon20:c.A2874G:p.T958T |
|
1 |
17295679 |
2 |
CROCC |
T |
C |
exonic |
synonymous SNV |
CROCC:NM_014675:exon32:c.T5145C:p.A1715A |
|
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 |
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 |
20987873 |
2 |
DDOST |
G |
C |
exonic |
nonsynonymous SNV |
DDOST:NM_005216:exon1:c.C22G:p.R8G |
|
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 |
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 |
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 |
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 |
22217108 |
2 |
HSPG2 |
G |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F |
|
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 |
22852715 |
1 |
ZBTB40 |
G |
C |
exonic |
synonymous SNV |
ZBTB40:NM_001330398:exon16:c.G3210C:p.P1070P,ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P |
|
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 |
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 |
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 |
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 |
25889632 |
1 |
LDLRAP1 |
T |
C |
exonic |
nonsynonymous SNV |
LDLRAP1:NM_015627:exon6:c.T604C:p.S202P |
RS6687605 |
Rheumatoid arthritis:HDL
cholesterol:LDL cholesterol:Gene expression of LDLRAP1 in blood:Age at death
with kuru exposure:Nonsyndromic striae distensae (stretch marks) |
|
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 |
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 |
26627478 |
1 |
UBXN11 |
T |
C |
exonic |
synonymous SNV |
UBXN11:NM_001077262:exon4:c.A138G:p.S46S,UBXN11:NM_183008:exon5:c.A138G:p.S46S |
RS2276712 |
Gene expression of CD52 [probe
204661_at] in lymphoblastoid cell lines:Methylation levels at
chr1:26478506-26478556 [hg18 coord, probe cg01414934] in
Cerebellum:Microalbuminuria:Diabetic retinopathy in Type 2 diabetes
mellitus:Birth weight:Decrease in FEV1 (in asthmatic participants >=30
years old) |
|
1 |
27210721 |
2 |
GPN2 |
T |
C |
exonic |
nonsynonymous SNV |
GPN2:NM_018066:exon4:c.A790G:p.R264G |
RS3170660 |
HDL cholesterol:Triglycerides:LDL
cholesterol |
|
1 |
27320356 |
2 |
TRNP1 |
T |
C |
exonic |
nonsynonymous SNV |
TRNP1:NM_001013642:exon1:c.T79C:p.W27R |
|
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 |
30872602 |
2 |
|
1 |
31347320 |
1 |
SDC3 |
G |
A |
exonic |
nonsynonymous SNV |
SDC3:NM_014654:exon4:c.C986T:p.T329I |
RS2282440 |
Adiponectin levels |
|
1 |
32148571 |
2 |
COL16A1 |
A |
G |
exonic |
synonymous SNV |
COL16A1:NM_001856:exon37:c.T2502C:p.P834P |
|
1 |
33065947 |
2 |
ZBTB8A |
G |
C |
exonic |
nonsynonymous SNV |
ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A |
|
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 |
33957152 |
2 |
ZSCAN20 |
T |
G |
exonic |
nonsynonymous SNV |
ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D |
|
1 |
33960062 |
2 |
ZSCAN20 |
A |
G |
exonic |
synonymous SNV |
ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A |
RS9943259 |
HDL cholesterol:Biploar disorder
(bipolar schizoaffective disorder):Triglycerides change with statins:Lp-PLA2
mass:Serum ratio of (gamma-tocopherol)/(indolelactate):Infant head
circumference:Paternal transmission distortion |
|
1 |
35562965 |
2 |
ZMYM1 |
G |
A |
exonic |
nonsynonymous SNV |
ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M |
RS2971408 |
Barnes Akathisia Rating
Scale:Triglycerides:Diastolic blood pressure (DBP):Refractive error |
|
1 |
36316571 |
1 |
AGO4 |
A |
C |
exonic |
synonymous SNV |
AGO4:NM_017629:exon17:c.A2394C:p.S798S |
RS4652895 |
Barnes Akathisia Rating Scale:Major
depressive disorder:Lp-PLA2 mass:Rheumatoid arthritis:LDL cholesterol:Waist
hip ratio:Body mass index (BMI):Years of education |
|
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 |
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 |
38463504 |
1 |
FHL3 |
C |
T |
exonic |
synonymous SNV |
FHL3:NM_001243878:exon4:c.G216A:p.P72P,FHL3:NM_004468:exon5:c.G540A:p.P180P |
|
1 |
39748921 |
2 |
MACF1 |
G |
A |
exonic |
synonymous SNV |
MACF1:NM_012090:exon7:c.G771A:p.Q257Q |
RS2275188 |
HOMA-IR:HDL
cholesterol:Triglycerides |
|
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 |
40533315 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T734G:p.I245S,CAP1:NM_001330502:exon8:c.T731G:p.I244S,CAP1:NM_001350476:exon8:c.T734G:p.I245S,CAP1:NM_001350477:exon8:c.T734G:p.I245S,CAP1:NM_001350479:exon8:c.T734G:p.I245S,CAP1:NM_001350480:exon8:c.T734G:p.I245S,CAP1:NM_001350481:exon8:c.T734G:p.I245S,CAP1:NM_001350482:exon8:c.T731G:p.I244S,CAP1:NM_001350483:exon8:c.T731G:p.I244S,CAP1:NM_001350485:exon8:c.T731G:p.I244S,CAP1:NM_006367:exon8:c.T734G:p.I245S,CAP1:NM_001350475:exon9:c.T734G:p.I245S,CAP1:NM_001350478:exon9:c.T734G:p.I245S,CAP1:NM_001350484:exon9:c.T731G:p.I244S |
|
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 |
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 |
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 |
43212431 |
2 |
P3H1 |
A |
G |
exonic |
synonymous SNV |
P3H1:NM_022356:exon15:c.T2148C:p.G716G |
|
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 |
44415415 |
1 |
IPO13 |
C |
T |
exonic |
synonymous SNV |
IPO13:NM_014652:exon2:c.C411T:p.D137D |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
59125683 |
1 |
MYSM1 |
C |
T |
exonic |
nonsynonymous SNV |
MYSM1:NM_001085487:exon20:c.G2473A:p.E825K |
RS232777 |
Depression scale of the Revised NEO
Personality Inventory:Height |
|
1 |
59148118 |
1 |
MYSM1 |
A |
T |
exonic |
nonsynonymous SNV |
MYSM1:NM_001085487:exon8:c.T598A:p.C200S |
RS17118103 |
Height |
|
1 |
61554084 |
1 |
NFIA |
G |
A |
exonic |
synonymous SNV |
NFIA:NM_001134673:exon2:c.G291A:p.G97G,NFIA:NM_001145511:exon2:c.G267A:p.G89G,NFIA:NM_005595:exon2:c.G291A:p.G97G,NFIA:NM_001145512:exon3:c.G426A:p.G142G |
|
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 |
62380270 |
2 |
PATJ |
C |
T |
exonic |
synonymous SNV |
PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N |
|
1 |
62713224 |
2 |
KANK4 |
C |
G |
exonic |
nonsynonymous SNV |
KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L |
RS2941679 |
Nicotine initiation (smoking):Mitral
annular calcium |
|
1 |
62740446 |
2 |
KANK4 |
T |
C |
exonic |
synonymous SNV |
KANK4:NM_181712:exon3:c.A330G:p.P110P |
RS2666506 |
Triglycerides:Methylation levels at
chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal
cortex:Triglycerides:Total cholesterol:LDL cholesterol:Adiponectin
levels:Infant head circumference |
|
1 |
62740449 |
2 |
KANK4 |
T |
C |
exonic |
synonymous SNV |
KANK4:NM_181712:exon3:c.A327G:p.S109S |
RS2666507 |
Triglycerides:Methylation levels at
chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal
cortex:Triglycerides:Total cholesterol:Infant head circumference:Adiponectin
levels |
|
1 |
63997633 |
1 |
EFCAB7 |
A |
T |
exonic |
synonymous SNV |
EFCAB7:NM_032437:exon3:c.A330T:p.S110S |
RS9804078 |
HDL cholesterol |
|
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 |
64624842 |
2 |
ROR1 |
A |
G |
exonic |
synonymous SNV |
ROR1:NM_005012:exon8:c.A1353G:p.V451V |
|
1 |
65867519 |
2 |
DNAJC6 |
G |
A |
exonic |
nonsynonymous SNV |
DNAJC6:NM_001256864:exon15:c.G2183A:p.S728N,DNAJC6:NM_014787:exon15:c.G2012A:p.S671N,DNAJC6:NM_001256865:exon16:c.G1973A:p.S658N |
RS4915691 |
Serum ratio of
(3-methylxanthine)/(theobromine):Comorbid depressive syndrome and alcohol
dependence |
|
1 |
67390416 |
2 |
WDR78 |
G |
C |
exonic |
nonsynonymous SNV |
WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W |
RS3008858 |
Cystatin C in
serum:Height:Microalbuminuria:Birth weight:College completion:Obesity with
early age of onset (age >2) |
|
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 |
75681511 |
2 |
SLC44A5 |
T |
C |
exonic |
synonymous SNV |
SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q |
RS595009 |
Triglycerides:Total cholesterol:LDL
cholesterol |
|
1 |
75716925 |
2 |
SLC44A5 |
C |
T |
exonic |
synonymous SNV |
SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V |
RS588098 |
Tardive
dyskinesia:Asthma:Height:Mitral annular calcium |
|
1 |
78211121 |
1 |
USP33 |
C |
T |
exonic |
synonymous SNV |
USP33:NM_015017:exon2:c.G27A:p.T9T,USP33:NM_201626:exon2:c.G27A:p.T9T |
|
1 |
78392446 |
2 |
NEXN |
G |
A |
exonic |
nonsynonymous SNV |
NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R |
RS1166698 |
Gene expression of NEXN [probe
226103_at] in lymphoblastoid cell lines:Gene expression of NEXN [probe
1552309_a_at] in lymphoblastoid cell lines:Rheumatoid arthritis:LDL
cholesterol:Height:Body mass index (BMI):Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Bipolar disorder |
|
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 |
85624864 |
2 |
SYDE2 |
G |
A |
exonic |
synonymous SNV |
SYDE2:NM_032184:exon7:c.C3154T:p.L1052L |
|
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 |
89522646 |
1 |
GBP1 |
G |
C |
exonic |
nonsynonymous SNV |
GBP1:NM_002053:exon7:c.C1046G:p.T349S |
|
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 |
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 |
93160902 |
2 |
EVI5 |
T |
C |
exonic |
nonsynonymous SNV |
EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V |
RS2391199 |
Arthritis including
non-Rheumatoid:Simpson-Angus Scale: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 |
93672723 |
2 |
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 |
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 |
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 |
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 |
97272456 |
1 |
PTBP2 |
A |
G |
exonic |
synonymous SNV |
PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L |
RS6699932 |
Gene expression of PTBP2 in
blood:Serum ratio of (ADpSGEGDFXAEGGGVR*)/(biliverdin):PROP taste detection
threshold |
|
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 |
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 |
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 |
107417730 |
2 |
|
1 |
109745618 |
2 |
KIAA1324 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P |
RS1052878 |
Longstanding arthritis:HDL
cholesterol:Chronic kidney disease:LDL cholesterol:HDL cholesterol:Total
cholesterol:Gene expression of PSRC1 in blood:Gene expression of KIAA1324 in
blood:Serum concentration of 1-stearoylglycerophosphocholine:College completion:Aortic
valve calcium |
|
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 |
109795026 |
2 |
CELSR2 |
T |
C |
exonic |
synonymous SNV |
CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y |
RS413380 |
LDL cholesterol:LDL
cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total
cholesterol:Coronary artery disease (CAD):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
1 |
109795608 |
2 |
CELSR2 |
T |
C |
exonic |
synonymous SNV |
CELSR2:NM_001408:exon1:c.T2907C:p.F969F |
RS437444 |
LDL cholesterol:LDL
cholesterol:Serum creatinine:HDL cholesterol:Total cholesterol:LDL
cholesterol:Serum ratio of (2-hydroxyisobutyrate)/(hypoxanthine):Coronary
artery disease (CAD):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
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 |
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 |
110233138 |
2 |
GSTM1 |
G |
C |
exonic |
nonsynonymous SNV |
GSTM1:NM_000561:exon7:c.G519C:p.K173N |
|
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 |
110466709 |
2 |
CSF1 |
T |
C |
exonic |
nonsynonymous SNV |
CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S |
|
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 |
112991698 |
1 |
CTTNBP2NL |
T |
C |
exonic |
synonymous SNV |
CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N |
RS2256883 |
Gene expression of CTTNBP2NL [probe
226000_at] in lymphoblastoid cell lines:HDL
cholesterol:Triglycerides:Nicotine dependence (smoking):Serum ratio of
(pantothenate)/(pyridoxate):Mitral annular calcium:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
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 |
113657092 |
2 |
LRIG2 |
A |
C |
exonic |
synonymous SNV |
LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T |
RS1216793 |
Total cholesterol change with
statins:Waist hip ratio |
|
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 |
117529458 |
1 |
PTGFRN |
G |
A |
exonic |
nonsynonymous SNV |
PTGFRN:NM_020440:exon9:c.G2509A:p.V837I |
RS10801922 |
HOMA-B:Fasting blood glucose:Serum
creatinine:Chronic kidney disease:Gene expression of IGSF2 in peripheral
blood monocytes:Triglycerides:Nicotine dependence (smoking):Serum ratio of
(2-methylbutyroylcarnitine)/(trigonelline (N'-methylnicotinate)):Paternal
transmission distortion:Transmission distortion:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG:Sarcoidosis |
|
1 |
118892888 |
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 |
144618144 |
2 |
NBPF8;NBPF9 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
1 |
144828583 |
1 |
NBPF8;NBPF9 |
G |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
144879375 |
1 |
PDE4DIP |
T |
C |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E |
|
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 |
144912233 |
1 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H |
|
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 |
145281543 |
1 |
NOTCH2NL |
C |
T |
exonic |
nonsynonymous SNV |
NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I |
|
1 |
145281996 |
1 |
NOTCH2NL |
G |
C |
exonic |
nonsynonymous SNV |
NOTCH2NL:NM_203458:exon5:c.G676C:p.E226Q |
|
1 |
145293469 |
1 |
NBPF10 |
G |
C |
exonic |
nonsynonymous SNV |
NBPF10:NM_001039703:exon1:c.G64C:p.E22Q,NBPF10:NM_001302371:exon1:c.G64C:p.E22Q |
|
1 |
145299824 |
1 |
NBPF10 |
C |
G |
exonic |
nonsynonymous SNV |
NBPF10:NM_001039703:exon6:c.C873G:p.I291M,NBPF10:NM_001302371:exon6:c.C873G:p.I291M |
|
1 |
145299833 |
1 |
NBPF10 |
A |
G |
exonic |
synonymous SNV |
NBPF10:NM_001039703:exon6:c.A882G:p.K294K,NBPF10:NM_001302371:exon6:c.A882G:p.K294K |
|
1 |
145477257 |
1 |
LIX1L |
T |
C |
exonic |
synonymous SNV |
LIX1L:NM_153713:exon1:c.T99C:p.A33A |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
151316161 |
2 |
RFX5 |
G |
A |
exonic |
synonymous SNV |
RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L |
|
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 |
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 |
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 |
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 |
155837865 |
2 |
SYT11 |
G |
C |
exonic |
nonsynonymous SNV |
SYT11:NM_152280:exon2:c.G144C:p.Q48H |
RS822522 |
Tardive dyskinesia:Transmission
distortion |
|
1 |
155838267 |
2 |
SYT11 |
T |
C |
exonic |
synonymous SNV |
SYT11:NM_152280:exon2:c.T546C:p.H182H |
|
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 |
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 |
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 |
156646668 |
2 |
NES |
A |
G |
exonic |
nonsynonymous SNV |
NES:NM_006617:exon1:c.T389C:p.V130A |
|
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 |
156877457 |
2 |
PEAR1 |
T |
C |
exonic |
nonsynonymous SNV |
PEAR1:NM_001080471:exon7:c.T700C:p.S234P |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
182850727 |
2 |
DHX9 |
T |
C |
exonic |
synonymous SNV |
DHX9:NM_001357:exon24:c.T2859C:p.T953T |
|
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 |
197704793 |
2 |
DENND1B |
C |
G |
exonic |
synonymous SNV |
DENND1B:NM_001195216:exon3:c.G216C:p.P72P |
|
1 |
197704802 |
2 |
DENND1B |
G |
A |
exonic |
synonymous SNV |
DENND1B:NM_001195216:exon3:c.C207T:p.D69D |
|
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 |
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 |
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 |
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 |
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 |
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 |
203148633 |
2 |
CHI3L1 |
A |
G |
exonic |
synonymous SNV |
CHI3L1:NM_001276:exon10:c.T1092C:p.C364C |
|
1 |
203152801 |
1 |
CHI3L1 |
T |
C |
exonic |
nonsynonymous SNV |
CHI3L1:NM_001276:exon5:c.A433G:p.R145G |
RS880633 |
Asthma:Asthma, childhood, later and
unknown onset, and severe and industrial asthma:Asthma, childhood
onset:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of
ADORA1///MYBPH in blood:Birth weight:Primary rhegmatogenous retinal detachment:Hypertension
(early onset hypertension) |
|
1 |
203652444 |
2 |
ATP2B4 |
A |
G |
exonic |
synonymous SNV |
ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S |
RS1419114 |
Gene expression of ATP2B4 in
blood:Serum ratio of (alpha-tocopherol)/(phenyllactate (PLA)):Mean
corpuscular hemoglobin concentration (MCHC):Mean corpuscular volume (MCV) |
|
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 |
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 |
204438334 |
2 |
PIK3C2B |
C |
T |
exonic |
synonymous SNV |
PIK3C2B:NM_002646:exon3:c.G597A:p.P199P |
RS1124777 |
HIV-1 disease progression:Total
cholesterol:LDL cholesterol:Age at menarche |
|
1 |
204438643 |
2 |
PIK3C2B |
G |
T |
exonic |
synonymous SNV |
PIK3C2B:NM_002646:exon3:c.C288A:p.L96L |
RS1553921 |
HIV-1 disease progression:Total
cholesterol:LDL cholesterol:Age at menarche:Adiponectin levels |
|
1 |
205052939 |
2 |
TMEM81 |
G |
A |
exonic |
synonymous SNV |
TMEM81:NM_203376:exon1:c.C510T:p.L170L |
RS4950979 |
Waist hip ratio |
|
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 |
205272926 |
1 |
NUAK2 |
C |
T |
exonic |
synonymous SNV |
NUAK2:NM_030952:exon7:c.G1671A:p.L557L |
RS1106201 |
Fasting blood glucose:HOMA-B |
|
1 |
205272983 |
1 |
NUAK2 |
C |
G |
exonic |
synonymous SNV |
NUAK2:NM_030952:exon7:c.G1614C:p.L538L |
RS1106202 |
Fasting blood glucose:HOMA-B:Gene
expression of DSTYK (ENSG00000133059) in dendritic cells |
|
1 |
205275421 |
2 |
NUAK2 |
A |
G |
exonic |
synonymous SNV |
NUAK2:NM_030952:exon5:c.T717C:p.G239G |
|
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 |
206626607 |
1 |
SRGAP2 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS11120575 |
HDL cholesterol:LDL
cholesterol:Fasting blood glucose:Rheumatoid arthritis:HDL
cholesterol:Refractive error |
|
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 |
207195779 |
2 |
C1orf116 |
A |
G |
exonic |
nonsynonymous SNV |
C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P |
RS2842726 |
Serum creatinine:Total
cholesterol:Triglycerides:Refractive error |
|
1 |
209788703 |
2 |
LAMB3 |
T |
C |
exonic |
synonymous SNV |
LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S |
RS1049607 |
HDL cholesterol:LDL cholesterol |
|
1 |
209791929 |
2 |
LAMB3 |
G |
T |
exonic |
nonsynonymous SNV |
LAMB3:NM_001017402:exon18:c.C2777A:p.A926D,LAMB3:NM_000228:exon19:c.C2777A:p.A926D,LAMB3:NM_001127641:exon19:c.C2777A:p.A926D |
RS2076222 |
Triglycerides change with
statins:HDL cholesterol change with statins:HDL cholesterol:Serum ratio of
(hexadecanedioate)/(tetradecanedioate):Refractive error |
|
1 |
209797198 |
2 |
LAMB3 |
A |
G |
exonic |
synonymous SNV |
LAMB3:NM_001017402:exon14:c.T2124C:p.S708S,LAMB3:NM_000228:exon15:c.T2124C:p.S708S,LAMB3:NM_001127641:exon15:c.T2124C:p.S708S |
RS2072937 |
Triglycerides change with
statins:HDL cholesterol change with statins:Total cholesterol change with
statins:HDL cholesterol:Refractive error |
|
1 |
209799253 |
2 |
LAMB3 |
A |
G |
exonic |
synonymous SNV |
LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C |
|
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 |
212274413 |
2 |
DTL |
A |
C |
exonic |
nonsynonymous SNV |
DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T |
RS6540718 |
Rheumatoid arthritis:Waist hip ratio |
|
1 |
212515613 |
1 |
PPP2R5A |
C |
T |
exonic |
synonymous SNV |
PPP2R5A:NM_001199756:exon4:c.C393T:p.F131F,PPP2R5A:NM_006243:exon4:c.C564T:p.F188F |
RS1774249 |
Gene expression of TMEM206 [probe
222752_s_at] in lymphoblastoid cell lines:HOMA-B:Height:Waist hip ratio:Gene
expression of PPP2R5A in blood:Sporadic Creutzfeldt-Jakob disease:Years of
education:Adiponectin levels:Hypertension (early onset hypertension):College
completion |
|
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 |
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 |
214542819 |
2 |
PTPN14 |
T |
C |
exonic |
synonymous SNV |
PTPN14:NM_005401:exon17:c.A3252G:p.E1084E |
RS1135352 |
Waist hip ratio:Infant head
circumference |
|
1 |
214811244 |
1 |
CENPF |
C |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon11:c.C1482G:p.H494Q |
RS2070065 |
HDL cholesterol change with
statins:Serum concentration of glycerol:Birth weight |
|
1 |
214816224 |
1 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.G4543A:p.A1515T |
RS2666839 |
Schizophrenia:HDL cholesterol
change with statins:Late onset Alzheimer's disease:Serum concentration of
3-phenylpropionate (hydrocinnamate):Birth weight:Aortic valve calcium |
|
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 |
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 |
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 |
222721288 |
1 |
HHIPL2 |
C |
T |
exonic |
synonymous SNV |
HHIPL2:NM_024746:exon1:c.G99A:p.L33L |
RS4846382 |
Serum creatinine:Triglycerides |
|
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 |
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 |
223178561 |
2 |
DISP1 |
A |
C |
exonic |
synonymous SNV |
DISP1:NM_001350630:exon9:c.A3093C:p.P1031P,DISP1:NM_032890:exon10:c.A3822C:p.P1274P |
|
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 |
224492746 |
2 |
NVL |
C |
T |
exonic |
synonymous SNV |
NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L |
RS3754090 |
HDL cholesterol |
|
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 |
225974614 |
1 |
SRP9 |
A |
G |
exonic |
nonsynonymous SNV |
SRP9:NM_001130440:exon3:c.A192G:p.I64M |
|
1 |
226019653 |
1 |
EPHX1 |
G |
A |
exonic |
synonymous SNV |
EPHX1:NM_000120:exon3:c.G357A:p.K119K,EPHX1:NM_001136018:exon3:c.G357A:p.K119K,EPHX1:NM_001291163:exon3:c.G357A:p.K119K |
RS1131873 |
LDL cholesterol:LDL cholesterol
change with statins:Total cholesterol change with statins:Autism:HDL
cholesterol:LDL cholesterol:Serum concentration of 1-stearoylglycerol
(1-monostearin):Acute lung injury following major trauma |
|
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 |
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 |
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 |
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 |
234582651 |
1 |
TARBP1 |
T |
C |
exonic |
nonsynonymous SNV |
TARBP1:NM_005646:exon12:c.A2032G:p.S678G |
RS4920246 |
College completion |
|
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 |
236413230 |
2 |
ERO1B |
T |
A |
exonic |
nonsynonymous SNV |
ERO1B:NM_019891:exon5:c.A386T:p.D129V |
|
1 |
236700807 |
1 |
LGALS8 |
T |
A |
exonic |
nonsynonymous SNV |
LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y |
RS1126407 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change
with statins:PROP taste detection threshold:College completion:Years of
education |
|
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 |
236711323 |
1 |
LGALS8 |
T |
C |
exonic |
synonymous SNV |
LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y |
RS15701 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Triglycerides:Differential exon level
expression of LGALS8 [probe 2386902] in brain cortex:HDL cholesterol change
with statins:Gene expression of HEATR1 in blood:Gene expression of LGALS8 in
blood:PROP taste detection threshold:Gene expression of LGALS8 in normal
prepouch ileum: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 cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in
Alzheimer's disease cases and controls:Paternal transmission
distortion:College completion:Salmonella-induced pyroptosis:Gene expression
of HEATR1 (probeID ILMN_1787762) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal
cortex in Alzheimer's disease cases:Years of education:Transmission
distortion |
|
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 |
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 |
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 |
243354791 |
1 |
CEP170 |
C |
T |
exonic |
nonsynonymous SNV |
CEP170:NM_001042404:exon8:c.G637A:p.G213S,CEP170:NM_001042405:exon8:c.G637A:p.G213S,CEP170:NM_014812:exon8:c.G637A:p.G213S |
|
1 |
243579112 |
1 |
SDCCAG8 |
G |
A |
exonic |
synonymous SNV |
SDCCAG8:NM_001350249:exon14:c.G1431A:p.E477E,SDCCAG8:NM_006642:exon14:c.G1725A:p.E575E,SDCCAG8:NM_001350247:exon15:c.G822A:p.E274E,SDCCAG8:NM_001350248:exon15:c.G1821A:p.E607E,SDCCAG8:NM_001350246:exon16:c.G822A:p.E274E,SDCCAG8:NM_001350251:exon17:c.G822A:p.E274E |
RS10927011 |
Gene expression of SDCCAG8 [probe
1553034_at] in lymphoblastoid cell lines:Cystatin C in serum:Refractive
error:Years of education:Obesity with early age of onset (age >2):College
completion |
|
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 |
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 |
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 |
3604483 |
1 |
RNASEH1 |
C |
T |
exonic |
nonsynonymous SNV |
RNASEH1:NM_001286834:exon2:c.G62A:p.R21K,RNASEH1:NM_002936:exon2:c.G140A:p.R47K |
|
2 |
9491017 |
2 |
ASAP2 |
C |
T |
exonic |
synonymous SNV |
ASAP2:NM_001135191:exon12:c.C1104T:p.L368L,ASAP2:NM_003887:exon12:c.C1104T:p.L368L |
|
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 |
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 |
15747393 |
2 |
DDX1 |
C |
T |
exonic |
synonymous SNV |
DDX1:NM_004939:exon13:c.C912T:p.N304N |
RS10929378 |
Serum creatinine:College completion |
|
2 |
17954027 |
2 |
GEN1 |
G |
A |
exonic |
nonsynonymous SNV |
GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N |
|
2 |
20101487 |
1 |
TTC32 |
G |
A |
exonic |
synonymous SNV |
TTC32:NM_001008237:exon1:c.C129T:p.S43S |
RS2304589 |
Mean LDL cholesterol:Bipolar
disorder:Serum creatinine:Height:Diastolic blood pressure (DBP):Gene
expression of TTC32 (probeID ILMN_2083588) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of TTC32 (probeID ILMN_2083588) in
cerebellum in Alzheimer's disease cases and controls |
|
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 |
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 |
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 |
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 |
24369674 |
2 |
FAM228B |
C |
T |
exonic |
unknown |
UNKNOWN |
RS11693860 |
Alzheimer's disease:Total
cholesterol:Serum creatinine:Gene expression of TP53I3 in blood:Serum
concentration of piperine:Sporadic Creutzfeldt-Jakob disease:Years of
education |
|
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 |
25046090 |
2 |
ADCY3 |
T |
C |
exonic |
synonymous SNV |
ADCY3:NM_001320613:exon18:c.A2874G:p.S958S,ADCY3:NM_004036:exon18:c.A2871G:p.S957S |
RS1127568 |
Irritible bowel syndrome:Premature
ovarian failure:Cystatin C in serum:Serum creatinine:Height:Gene expression
of CENPO in blood:Serum ratio of (allantoin)/(pro-hydroxy-pro):Diabetic
retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age
>2) |
|
2 |
25194741 |
2 |
DNAJC27 |
G |
A |
exonic |
synonymous SNV |
DNAJC27:NM_001198559:exon1:c.C33T:p.P11P,DNAJC27:NM_016544:exon1:c.C33T:p.P11P |
|
2 |
25377176 |
2 |
EFR3B |
T |
C |
exonic |
synonymous SNV |
EFR3B:NM_001319099:exon23:c.T2316C:p.Y772Y,EFR3B:NM_014971:exon23:c.T2421C:p.Y807Y |
RS2164808 |
Serum creatinine:Height:Serum ratio
of (aspartylphenylalanine)/(ursodeoxycholate):Bipolar disorder |
|
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 |
27324724 |
1 |
CGREF1 |
G |
C |
exonic |
synonymous SNV |
CGREF1:NM_001166239:exon6:c.C375G:p.T125T,CGREF1:NM_006569:exon6:c.C375G:p.T125T |
RS2384571 |
HDL cholesterol:Fasting blood
glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Diabetic retinopathy in Type 2 diabetes mellitus |
|
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 |
27676287 |
1 |
IFT172 |
A |
T |
exonic |
synonymous SNV |
IFT172:NM_015662:exon35:c.T3915A:p.S1305S |
|
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 |
32667182 |
2 |
BIRC6 |
G |
C |
exonic |
nonsynonymous SNV |
BIRC6:NM_016252:exon18:c.G3994C:p.V1332L |
|
2 |
32855615 |
2 |
TTC27 |
A |
G |
exonic |
synonymous SNV |
TTC27:NM_017735:exon2:c.A114G:p.L38L |
|
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 |
37230728 |
1 |
HEATR5B |
T |
C |
exonic |
synonymous SNV |
HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V |
RS1007823 |
Longstanding arthritis:Rheumatoid
arthritis:Arthritis including non-Rheumatoid:2 hour glucose:HDL
cholesterol:LDL cholesterol change with statins:Triglycerides:Kawasaki
disease:Tetrology of fallot:Birth weight |
|
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 |
37599963 |
1 |
QPCT |
A |
C |
exonic |
nonsynonymous SNV |
QPCT:NM_012413:exon7:c.A1079C:p.H360P |
RS4670696 |
HDL cholesterol change with
statins:Refractive error |
|
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 |
46618321 |
2 |
|
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 |
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 |
55805440 |
2 |
PPP4R3B |
T |
C |
exonic |
nonsynonymous SNV |
PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V |
|
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 |
61577435 |
1 |
USP34 |
T |
C |
exonic |
synonymous SNV |
USP34:NM_014709:exon12:c.A1467G:p.A489A |
RS2166720 |
HDL cholesterol:Cystatin C in
serum:Triglycerides:LDL cholesterol:Total cholesterol |
|
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 |
62069358 |
1 |
FAM161A |
T |
C |
exonic |
nonsynonymous SNV |
FAM161A:NM_001201543:exon2:c.A321G:p.I107M,FAM161A:NM_032180:exon2:c.A321G:p.I107M |
RS11125895 |
Serum creatinine:Gene expression of
AHSA2 in peripheral blood monocytes:Hemoglobin (Hb):Neuroblastoma (brain
cancer):Serum concentration of 7-methylxanthine:Type 2 diabetes:Variant
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Primary rhegmatogenous retinal detachment |
|
2 |
62081012 |
2 |
FAM161A |
A |
C |
exonic |
synonymous SNV |
FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A |
RS4270331 |
LDL cholesterol change with
statins:Adiponectin levels |
|
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 |
69741854 |
2 |
AAK1 |
T |
G |
exonic |
nonsynonymous SNV |
AAK1:NM_014911:exon13:c.A1525C:p.K509Q |
|
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 |
71417065 |
2 |
PAIP2B |
G |
T |
exonic |
synonymous SNV |
PAIP2B:NM_020459:exon3:c.C225A:p.P75P |
RS357777 |
Gene expression of DYSF in
peripheral blood monocytes:Height:Serum concentration of myristate (14:0) |
|
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 |
73675669 |
2 |
ALMS1 |
T |
G |
exonic |
nonsynonymous SNV |
ALMS1:NM_015120:exon8:c.T2012G:p.V671G |
RS2037814 |
Waist hip ratio:Late onset
Alzheimer's disease:Salmonella-induced pyroptosis |
|
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 |
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 |
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 |
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 |
85981761 |
1 |
ATOH8 |
T |
C |
exonic |
nonsynonymous SNV |
ATOH8:NM_032827:exon1:c.T449C:p.L150P |
|
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 |
88425811 |
1 |
FABP1 |
C |
T |
exonic |
nonsynonymous SNV |
FABP1:NM_001443:exon2:c.G124A:p.V42M |
|
2 |
95539307 |
2 |
TEKT4 |
A |
G |
exonic |
nonsynonymous SNV |
TEKT4:NM_144705:exon2:c.A541G:p.T181A |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
109099572 |
2 |
GCC2 |
C |
G |
exonic |
nonsynonymous SNV |
GCC2:NM_181453:exon12:c.C3400G:p.Q1134E |
|
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 |
112536264 |
2 |
ANAPC1 |
G |
T |
exonic |
synonymous SNV |
ANAPC1:NM_022662:exon45:c.C5373A:p.I1791I |
|
2 |
112588914 |
1 |
ANAPC1 |
T |
C |
exonic |
synonymous SNV |
ANAPC1:NM_022662:exon21:c.A2574G:p.P858P |
|
2 |
112588926 |
1 |
ANAPC1 |
A |
G |
exonic |
synonymous SNV |
ANAPC1:NM_022662:exon21:c.T2562C:p.G854G |
|
2 |
112592207 |
1 |
ANAPC1 |
A |
G |
exonic |
synonymous SNV |
ANAPC1:NM_022662:exon19:c.T2358C:p.L786L |
|
2 |
112592265 |
1 |
ANAPC1 |
T |
C |
exonic |
nonsynonymous SNV |
ANAPC1:NM_022662:exon19:c.A2300G:p.H767R |
|
2 |
112592412 |
1 |
ANAPC1 |
T |
C |
exonic |
nonsynonymous SNV |
ANAPC1:NM_022662:exon19:c.A2153G:p.N718S |
|
2 |
113090047 |
2 |
ZC3H6 |
T |
C |
exonic |
synonymous SNV |
ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T |
RS4578863 |
Major depressive disorder (broad
definition):Major depressive disorder (broad definition) (females):Major
depressive disorder (broad definition) (males):HOMA-B:Fasting
insulin:HOMA-IR:Years of education:College completion:Birth weight |
|
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 |
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 |
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 |
118893413 |
2 |
|
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 |
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 |
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 |
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 |
152138522 |
1 |
NMI |
T |
C |
exonic |
synonymous SNV |
NMI:NM_004688:exon3:c.A117G:p.Q39Q |
RS3771886 |
Differential exon level expression
of NMI [probe 2580969] in peripheral blood mononuclear cells:Triglycerides
change with statins:Triglycerides:HDL cholesterol:Body mass index (BMI):Gene
expression of TNFAIP6 in blood:Gene expression of RBM43 in blood:Gene
expression of NMI in blood:Gene expression of NMI in normal prepouch ileum |
|
2 |
153041544 |
2 |
|
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 |
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 |
160086653 |
1 |
TANC1 |
C |
T |
exonic |
synonymous SNV |
TANC1:NM_001350062:exon24:c.C4113T:p.A1371A,TANC1:NM_001350063:exon25:c.C4347T:p.A1449A,TANC1:NM_001350064:exon27:c.C4695T:p.A1565A,TANC1:NM_033394:exon27:c.C4716T:p.A1572A,TANC1:NM_001350065:exon28:c.C4695T:p.A1565A |
RS4664277 |
Stabilized warfarin dose:Gene
expression of WDSUB1 [probe ILMN_9810] in osteoblasts:Partial epilepsy:Gene
expression of WDSUB1 [probe ILMN_9810] in untreated osteoblasts:Gene
expression of WDSUB1 in blood:Hypertension (early onset hypertension) |
|
2 |
160086654 |
1 |
TANC1 |
A |
G |
exonic |
nonsynonymous SNV |
TANC1:NM_001350062:exon24:c.A4114G:p.T1372A,TANC1:NM_001350063:exon25:c.A4348G:p.T1450A,TANC1:NM_001350064:exon27:c.A4696G:p.T1566A,TANC1:NM_033394:exon27:c.A4717G:p.T1573A,TANC1:NM_001350065:exon28:c.A4696G:p.T1566A |
|
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 |
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 |
165476253 |
2 |
GRB14 |
A |
T |
exonic |
nonsynonymous SNV |
GRB14:NM_004490:exon2:c.T268A:p.F90I |
|
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 |
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 |
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 |
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 |
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 |
189875421 |
2 |
COL3A1 |
T |
G |
exonic |
nonsynonymous SNV |
COL3A1:NM_000090:exon50:c.T4059G:p.H1353Q |
|
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 |
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 |
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 |
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 |
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 |
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 |
201437214 |
1 |
SGO2 |
A |
G |
exonic |
synonymous SNV |
SGO2:NM_001160033:exon7:c.A2145G:p.K715K,SGO2:NM_001160046:exon7:c.A2145G:p.K715K,SGO2:NM_152524:exon7:c.A2145G:p.K715K |
RS17532679 |
HDL cholesterol:Serum concentration
of citrulline |
|
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 |
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 |
202252539 |
1 |
TRAK2 |
G |
A |
exonic |
nonsynonymous SNV |
TRAK2:NM_015049:exon13:c.C1583T:p.T528I |
RS2244438 |
Alcohol dependence (early age of
onset):Alcohol dependence:Partial epilepsy:LDL cholesterol:Total
cholesterol:Gene expression of ALS2CR2 in blood:Comorbid depressive syndrome
and alcohol dependence:Obesity with early age of onset (age >2):College
completion |
|
2 |
202260049 |
2 |
TRAK2 |
G |
A |
exonic |
synonymous SNV |
TRAK2:NM_015049:exon8:c.C888T:p.H296H |
|
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 |
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 |
204062061 |
2 |
NBEAL1 |
A |
G |
exonic |
nonsynonymous SNV |
NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V |
RS4675323 |
Cystatin C in serum:LDL
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
2 |
205829991 |
2 |
PARD3B |
C |
T |
exonic |
synonymous SNV |
PARD3B:NM_001302769:exon3:c.C339T:p.A113A,PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A |
RS236843 |
Rheumatoid arthritis:Partial
epilepsy:Tetrology of fallot |
|
2 |
206364737 |
2 |
PARD3B |
T |
C |
exonic |
synonymous SNV |
PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S,PARD3B:NM_001302769:exon21:c.T3162C:p.S1054S |
|
2 |
206581033 |
2 |
NRP2 |
G |
A |
exonic |
nonsynonymous SNV |
NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K |
|
2 |
206608039 |
2 |
NRP2 |
T |
C |
exonic |
synonymous SNV |
NRP2:NM_003872:exon9:c.T1404C:p.V468V,NRP2:NM_018534:exon9:c.T1404C:p.V468V,NRP2:NM_201264:exon9:c.T1404C:p.V468V,NRP2:NM_201266:exon9:c.T1404C:p.V468V,NRP2:NM_201267:exon9:c.T1404C:p.V468V,NRP2:NM_201279:exon9:c.T1404C:p.V468V |
|
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 |
207988613 |
2 |
KLF7 |
C |
T |
exonic |
synonymous SNV |
KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L |
|
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 |
208633413 |
2 |
FZD5 |
T |
C |
exonic |
synonymous SNV |
FZD5:NM_003468:exon2:c.A51G:p.L17L |
|
2 |
208841964 |
1 |
PLEKHM3 |
A |
G |
exonic |
synonymous SNV |
PLEKHM3:NM_001080475:exon3:c.T957C:p.N319N |
|
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 |
209215586 |
2 |
PIKFYVE |
A |
G |
exonic |
synonymous SNV |
PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E |
|
2 |
214142447 |
1 |
LOC100130451 |
G |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.C429T:p.C143C |
|
2 |
214142480 |
2 |
LOC100130451 |
T |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.A396T:p.T132T |
|
2 |
215632255 |
1 |
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 |
215674224 |
1 |
BARD1 |
G |
A |
exonic |
nonsynonymous SNV |
BARD1:NM_000465:exon1:c.C70T:p.P24S,BARD1:NM_001282543:exon1:c.C70T:p.P24S,BARD1:NM_001282545:exon1:c.C70T:p.P24S,BARD1:NM_001282548:exon1:c.C70T:p.P24S,BARD1:NM_001282549:exon1:c.C70T:p.P24S |
RS1048108 |
HDL
cholesterol:Triglycerides:High-risk neuroblastoma:Triglycerides change with
statins:Rheumatoid arthritis:Birth weight |
|
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 |
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 |
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 |
218712606 |
1 |
TNS1 |
G |
A |
exonic |
synonymous SNV |
TNS1:NM_001308022:exon16:c.C2259T:p.S753S,TNS1:NM_001308023:exon16:c.C2259T:p.S753S,TNS1:NM_022648:exon17:c.C2259T:p.S753S |
|
2 |
218713282 |
1 |
TNS1 |
G |
A |
exonic |
nonsynonymous SNV |
TNS1:NM_001308022:exon16:c.C1583T:p.T528I,TNS1:NM_001308023:exon16:c.C1583T:p.T528I,TNS1:NM_022648:exon17:c.C1583T:p.T528I |
RS3796033 |
Differential exon level expression
of TNS1 [probe 2599197] in brain cortex:Gene expression of TNS1 in
blood:Diastolic blood pressure (DBP):Hypertension (early onset
hypertension):Primary rhegmatogenous retinal detachment |
|
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 |
219319657 |
2 |
USP37 |
A |
G |
exonic |
nonsynonymous SNV |
USP37:NM_020935:exon26:c.T2936C:p.L979S |
|
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 |
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 |
219920037 |
2 |
IHH |
A |
G |
exonic |
synonymous SNV |
IHH:NM_002181:exon3:c.T1128C:p.T376T |
RS394452 |
Rheumatoid arthritis:Diastolic blood
pressure (DBP):Years of education |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
220421417 |
2 |
OBSL1 |
C |
G |
exonic |
nonsynonymous SNV |
OBSL1:NM_001173431:exon13:c.G4095C:p.E1365D,OBSL1:NM_015311:exon13:c.G4095C:p.E1365D |
RS1983210 |
LDL cholesterol:Total cholesterol
change with statins:Triglycerides:LDL cholesterol:Gene expression of CHPF in
normal prepouch ileum:Coronary artery disease (CAD) |
|
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 |
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 |
220476443 |
2 |
STK11IP |
C |
T |
exonic |
nonsynonymous SNV |
STK11IP:NM_052902:exon18:c.C2222T:p.S741F |
RS627530 |
Triglycerides |
|
2 |
228194480 |
1 |
MFF |
A |
T |
exonic |
nonsynonymous SNV |
MFF:NM_001277061:exon3:c.A19T:p.S7C,MFF:NM_020194:exon3:c.A19T:p.S7C |
|
2 |
228194481 |
1 |
MFF |
G |
T |
exonic |
nonsynonymous SNV |
MFF:NM_001277061:exon3:c.G20T:p.S7I,MFF:NM_020194:exon3:c.G20T:p.S7I |
RS3211098 |
Stabilized warfarin
dose:Differential exon level expression of C2orf33 [probe 2530550] in
peripheral blood mononuclear cells:Differential exon level expression of
C2orf33 [probe 2530550] in brain cortex:Gene expression of MFF (probeID
ILMN_2198408) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MFF (probeID ILMN_2198408) in cerebellum in non-Alzheimer's
disease samples:Gene expression of MFF (probeID ILMN_2198408) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of MFF (probeID
ILMN_2198408) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MFF (probeID ILMN_2198408) in temporal cortex in
Alzheimer's disease cases:Gene expression of MFF (probeID ILMN_2198408) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
MFF (probeID ILMN_2198408) in cerebellum in Alzheimer's disease cases |
|
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 |
231077725 |
2 |
SP110 |
A |
G |
exonic |
nonsynonymous SNV |
SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R |
RS1129411 |
Paternal transmission distortion |
|
2 |
231331896 |
1 |
SP100 |
G |
A |
exonic |
synonymous SNV |
SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S |
RS1050224 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Salmonella-induced
pyroptosis:Parkinson's disease |
|
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 |
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 |
233413101 |
1 |
TIGD1 |
A |
G |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.T1492C:p.L498L |
|
2 |
233413109 |
1 |
TIGD1 |
T |
G |
exonic |
nonsynonymous SNV |
TIGD1:NM_145702:exon1:c.A1484C:p.Y495S |
|
2 |
233413165 |
1 |
TIGD1 |
T |
A |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.A1428T:p.T476T |
|
2 |
233413771 |
1 |
TIGD1 |
C |
T |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.G822A:p.A274A |
RS6752614 |
Myopia |
|
2 |
233413920 |
1 |
TIGD1 |
C |
T |
exonic |
nonsynonymous SNV |
TIGD1:NM_145702:exon1:c.G673A:p.A225T |
|
2 |
233414341 |
1 |
TIGD1 |
C |
T |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.G252A:p.K84K |
RS4973540 |
Myopia |
|
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 |
234449316 |
2 |
USP40 |
G |
A |
exonic |
synonymous SNV |
USP40:NM_018218:exon9:c.C1195T:p.L399L |
RS2167884 |
HDL cholesterol:HDL cholesterol |
|
2 |
234622360 |
2 |
UGT1A5 |
A |
G |
exonic |
synonymous SNV |
UGT1A5:NM_019078:exon1:c.A723G:p.R241R |
|
2 |
234761225 |
2 |
HJURP |
C |
T |
exonic |
nonsynonymous SNV |
HJURP:NM_001282962:exon3:c.G226A:p.E76K,HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K |
RS2286430 |
Hypertension, combined control
dataset, gender differentiated:Childhood acute lymphoblastic leukemia:LDL
cholesterol change with statins:Cystatin C in serum:Partial
epilepsy:Parkinson's disease:Paternal transmission distortion |
|
2 |
237032607 |
1 |
AGAP1 |
T |
G |
exonic |
synonymous SNV |
AGAP1:NM_014914:exon17:c.T2256G:p.A752A,AGAP1:NM_001037131:exon18:c.T2415G:p.A805A |
|
2 |
237032703 |
1 |
AGAP1 |
T |
C |
exonic |
synonymous SNV |
AGAP1:NM_014914:exon17:c.T2352C:p.P784P,AGAP1:NM_001037131:exon18:c.T2511C:p.P837P |
RS8178994 |
Height:College completion:Infant
head circumference:Years of education |
|
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 |
239229372 |
1 |
TRAF3IP1 |
C |
A |
exonic |
synonymous SNV |
TRAF3IP1:NM_001139490:exon1:c.C69A:p.T23T,TRAF3IP1:NM_015650:exon1:c.C69A:p.T23T |
|
2 |
240003870 |
1 |
HDAC4 |
G |
A |
exonic |
synonymous SNV |
HDAC4:NM_006037:exon21:c.C2565T:p.P855P |
RS1063639 |
Fasting insulin:HOMA-B:HOMA-IR:Birth
weight:Refractive error |
|
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 |
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 |
242407588 |
1 |
FARP2 |
G |
A |
exonic |
nonsynonymous SNV |
FARP2:NM_014808:exon18:c.G1927A:p.V643I |
RS41342147 |
Maternal transmission distortion |
|
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 |
|
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 |
4856180 |
2 |
ITPR1 |
T |
C |
exonic |
synonymous SNV |
ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T |
RS711631 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol:Serum ratio of (cysteine-glutathione
disulfide)/(erythronate*):PROP taste detection threshold:Variant
Creutzfeldt-Jakob disease:Mitral annular calcium |
|
3 |
5241309 |
2 |
EDEM1 |
C |
A |
exonic |
synonymous SNV |
EDEM1:NM_014674:exon3:c.C615A:p.A205A |
RS410509 |
LDL cholesterol:Intron expression |
|
3 |
8955389 |
2 |
RAD18 |
C |
T |
exonic |
nonsynonymous SNV |
RAD18:NM_020165:exon8:c.G905A:p.R302Q |
RS373572 |
Gene expression of RAD18 in
CEU-CHB-JPT lymphoblastoid cell lines:Total cholesterol change with
statins:Serum concentration of caproate (6:0):Variant Creutzfeldt-Jakob
disease:Colorectal cancer vs adenoma controls (males):Hypertension (early
onset hypertension) |
|
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 |
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 |
10088329 |
1 |
FANCD2 |
C |
A |
exonic |
nonsynonymous SNV |
FANCD2:NM_001018115:exon15:c.C1200A:p.D400E,FANCD2:NM_001319984:exon15:c.C1200A:p.D400E,FANCD2:NM_033084:exon15:c.C1200A:p.D400E |
|
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 |
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 |
14197987 |
2 |
XPC |
A |
T |
exonic |
synonymous SNV |
XPC:NM_004628:exon10:c.T1881A:p.A627A |
|
3 |
24006477 |
2 |
NR1D2 |
T |
A |
exonic |
nonsynonymous SNV |
NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M |
RS4858097 |
LDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio |
|
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 |
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 |
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 |
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 |
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 |
43121559 |
2 |
POMGNT2 |
C |
T |
exonic |
synonymous SNV |
POMGNT2:NM_032806:exon2:c.G1365A:p.P455P |
RS604033 |
Chronic kidney disease:Comorbid
depressive syndrome and alcohol dependence |
|
3 |
44612547 |
1 |
ZKSCAN7 |
C |
T |
exonic |
nonsynonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.C1945T:p.H649Y,ZKSCAN7:NM_018651:exon6:c.C1945T:p.H649Y |
|
3 |
44612552 |
1 |
ZKSCAN7 |
T |
C |
exonic |
synonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.T1950C:p.L650L,ZKSCAN7:NM_018651:exon6:c.T1950C:p.L650L |
|
3 |
44692564 |
2 |
ZNF35 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF35:NM_003420:exon2:c.C5G:p.T2S |
RS2272044 |
Serum ratio of
(lathosterol)/(mannitol) |
|
3 |
44775962 |
2 |
ZNF501 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V |
RS4682752 |
Gene expression of ZNF502 in CD4+
lymphocytes:Late onset Alzheimer's disease:Gene expression of ZNF502 in
blood:Gene expression of ZNF167 in blood:Sporadic Creutzfeldt-Jakob
disease:Gene expression of ZNF167 in normal prepouch ileum:Gene expression of
ZNF502 in normal prepouch ileum |
|
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 |
45134822 |
2 |
CDCP1 |
T |
C |
exonic |
nonsynonymous SNV |
CDCP1:NM_022842:exon6:c.A1574G:p.Q525R |
RS3749191 |
Irritible bowel syndrome:HDL
cholesterol:LDL cholesterol change with statins:Serum ratio of
(gamma-tocopherol)/(inosine):Serum ratio of
(gamma-glutamylthreonine*)/(ornithine):Coronary artery disease (CAD):Age at
death with kuru exposure:Erectile dysfunction after radiotherapy for prostate
cancer |
|
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 |
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 |
46010077 |
2 |
FYCO1 |
C |
T |
exonic |
nonsynonymous SNV |
FYCO1:NM_024513:exon8:c.G749A:p.R250Q |
RS4683158 |
2 hour glucose:Mitral annular
calcium |
|
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 |
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 |
47454399 |
2 |
PTPN23 |
G |
C |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon24:c.G4257C:p.P1419P,PTPN23:NM_015466:exon25:c.G4635C:p.P1545P |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
52867715 |
2 |
MUSTN1;TMEM110-MUSTN1 |
G |
C |
exonic |
nonsynonymous SNV |
MUSTN1:NM_205853:exon2:c.C60G:p.D20E,TMEM110-MUSTN1:NM_001198974:exon9:c.C930G:p.D310E |
|
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 |
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 |
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 |
64133182 |
2 |
PRICKLE2 |
G |
A |
exonic |
synonymous SNV |
PRICKLE2:NM_198859:exon7:c.C984T:p.N328N |
|
3 |
69245454 |
2 |
FRMD4B |
T |
C |
exonic |
nonsynonymous SNV |
FRMD4B:NM_015123:exon14:c.A1186G:p.T396A |
RS9310141 |
Salmonella-induced pyroptosis |
|
3 |
73046200 |
1 |
PPP4R2 |
G |
C |
exonic |
nonsynonymous SNV |
PPP4R2:NM_001318025:exon1:c.G12C:p.E4D,PPP4R2:NM_001318028:exon1:c.G12C:p.E4D,PPP4R2:NM_174907:exon1:c.G12C:p.E4D |
|
3 |
81643167 |
2 |
GBE1 |
T |
C |
exonic |
nonsynonymous SNV |
GBE1:NM_000158:exon8:c.A1000G:p.I334V |
RS2172397 |
Triglycerides change with
statins:Triglycerides |
|
3 |
88189341 |
2 |
ZNF654 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF654:NM_001350135:exon6:c.T2183C:p.I728T,ZNF654:NM_001350136:exon7:c.T1886C:p.I629T,ZNF654:NM_001350137:exon7:c.T1700C:p.I567T,ZNF654:NM_001350134:exon8:c.T2522C:p.I841T |
RS7653652 |
Major depressive disorder (narrow
definition) (females):Major depressive disorder (narrow
definition):Triglycerides change with statins:Body mass index (BMI):Gene
expression of ZNF654 [probe ILMN_6649] in osteoblasts treated with PGE2:Gene
expression of CGGBP1 [probe ILMN_7424] in untreated osteoblasts:Gene
expression of CGGBP1 [probe ILMN_7424] in osteoblasts treated with BMP2:Gene
expression of ZNF654 in blood:Gene expression of CGGBP1 in blood:College
completion:Obesity with early age of onset (age >2) |
|
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 |
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 |
101484335 |
2 |
CEP97 |
G |
A |
exonic |
synonymous SNV |
CEP97:NM_001303401:exon11:c.G2361A:p.Q787Q,CEP97:NM_024548:exon11:c.G2538A:p.Q846Q |
RS2625282 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Height:Refractive error |
|
3 |
105260596 |
2 |
ALCAM |
T |
C |
exonic |
synonymous SNV |
ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A |
|
3 |
108403086 |
2 |
DZIP3 |
T |
C |
exonic |
synonymous SNV |
DZIP3:NM_014648:exon27:c.T2907C:p.P969P |
|
3 |
111828423 |
2 |
C3orf52 |
G |
A |
exonic |
nonsynonymous SNV |
C3orf52:NM_024616:exon4:c.G430A:p.G144S |
|
3 |
113010466 |
2 |
CFAP44 |
T |
C |
exonic |
nonsynonymous SNV |
CFAP44:NM_001164496:exon35:c.A5503G:p.S1835G |
RS2291905 |
Diffuse-type gastric cancer:Aortic
valve calcium |
|
3 |
113022870 |
2 |
CFAP44 |
T |
C |
exonic |
nonsynonymous SNV |
CFAP44:NM_001164496:exon32:c.A4970G:p.H1657R |
RS4682484 |
Fasting blood glucose |
|
3 |
121208833 |
2 |
POLQ |
G |
C |
exonic |
nonsynonymous SNV |
POLQ:NM_199420:exon16:c.C2945G:p.T982R |
RS3218649 |
LDL cholesterol change with
statins:Rheumatoid arthritis:Acute lung injury following major trauma |
|
3 |
121238749 |
2 |
POLQ |
G |
A |
exonic |
synonymous SNV |
POLQ:NM_199420:exon9:c.C1437T:p.G479G |
|
3 |
121263720 |
2 |
POLQ |
C |
A |
exonic |
nonsynonymous SNV |
POLQ:NM_199420:exon2:c.G197T:p.R66I |
|
3 |
122134047 |
1 |
WDR5B |
C |
T |
exonic |
stopgain |
WDR5B:NM_019069:exon1:c.G329A:p.W110X |
|
3 |
122186188 |
2 |
KPNA1 |
C |
T |
exonic |
nonsynonymous SNV |
KPNA1:NM_002264:exon3:c.G218A:p.S73N |
|
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 |
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 |
123451773 |
2 |
MYLK |
G |
C |
exonic |
nonsynonymous SNV |
MYLK:NM_001321309:exon10:c.C958G:p.L320V,MYLK:NM_053025:exon11:c.C1486G:p.L496V,MYLK:NM_053027:exon11:c.C1486G:p.L496V |
|
3 |
123457893 |
2 |
MYLK |
G |
A |
exonic |
nonsynonymous SNV |
MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S |
|
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 |
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 |
124839470 |
2 |
SLC12A8 |
G |
A |
exonic |
nonsynonymous SNV |
SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L |
|
3 |
125648343 |
2 |
ALG1L |
G |
A |
exonic |
nonsynonymous SNV |
ALG1L:NM_001015050:exon6:c.C416T:p.S139L,ALG1L:NM_001195223:exon7:c.C476T:p.S159L |
|
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 |
126329910 |
2 |
TXNRD3 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS777241 |
Total cholesterol:Gene expression
of CHST13 in peripheral blood monocytes:Body mass index (BMI) |
|
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 |
127983495 |
2 |
EEFSEC |
T |
C |
exonic |
synonymous SNV |
EEFSEC:NM_021937:exon4:c.T657C:p.D219D |
RS2811544 |
Total cholesterol:Parkinson's
disease |
|
3 |
128205860 |
2 |
GATA2 |
G |
C |
exonic |
synonymous SNV |
GATA2:NM_001145662:exon2:c.C15G:p.P5P,GATA2:NM_032638:exon2:c.C15G:p.P5P,GATA2:NM_001145661:exon3:c.C15G:p.P5P |
|
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 |
129214358 |
1 |
IFT122 |
T |
C |
exonic |
nonsynonymous SNV |
IFT122:NM_052990:exon15:c.T1783C:p.F595L,IFT122:NM_001280546:exon16:c.T1489C:p.F497L,IFT122:NM_018262:exon17:c.T1939C:p.F647L,IFT122:NM_001280541:exon18:c.T2092C:p.F698L,IFT122:NM_052989:exon18:c.T2116C:p.F706L,IFT122:NM_001280545:exon19:c.T1666C:p.F556L,IFT122:NM_052985:exon19:c.T2269C:p.F757L |
|
3 |
129281980 |
2 |
PLXND1 |
C |
T |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon26:c.G4625A:p.S1542N |
|
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 |
132360883 |
2 |
ACAD11 |
C |
T |
exonic |
nonsynonymous SNV |
ACAD11:NM_032169:exon4:c.G470A:p.R157H |
|
3 |
133485133 |
2 |
TF |
A |
G |
exonic |
nonsynonymous SNV |
TF:NM_001063:exon12:c.A1342G:p.I448V |
|
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 |
142168331 |
2 |
ATR |
C |
T |
exonic |
synonymous SNV |
ATR:NM_001184:exon47:c.G7875A:p.Q2625Q |
|
3 |
142222284 |
2 |
ATR |
A |
G |
exonic |
synonymous SNV |
ATR:NM_001184:exon30:c.T5208C:p.Y1736Y |
RS2227931 |
Autism with high
IQ:Triglycerides:Total cholesterol |
|
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 |
142277575 |
2 |
ATR |
A |
T |
exonic |
synonymous SNV |
ATR:NM_001184:exon8:c.T1776A:p.G592G |
RS2227930 |
Total cholesterol:Triglycerides:LDL
cholesterol:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Mean corpuscular volume (MCV) |
|
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 |
148872987 |
2 |
HPS3 |
G |
A |
exonic |
synonymous SNV |
HPS3:NM_001308258:exon7:c.G999A:p.Q333Q,HPS3:NM_032383:exon8:c.G1494A:p.Q498Q |
RS6440589 |
Total cholesterol:Diastolic blood
pressure (DBP) |
|
3 |
148916235 |
2 |
CP |
T |
A |
exonic |
nonsynonymous SNV |
CP:NM_000096:exon9:c.A1632T:p.E544D |
RS701753 |
Serum creatinine |
|
3 |
153839866 |
2 |
ARHGEF26 |
G |
C |
exonic |
nonsynonymous SNV |
ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L |
RS12493885 |
Serum creatinine:Rheumatoid
arthritis:Body mass index (BMI):Coronary artery calcification (CAC):Coronary
artery disease (CAD) |
|
3 |
153839959 |
2 |
ARHGEF26 |
C |
T |
exonic |
nonsynonymous SNV |
ARHGEF26:NM_001251962:exon2:c.C178T:p.L60F,ARHGEF26:NM_001251963:exon2:c.C178T:p.L60F,ARHGEF26:NM_015595:exon2:c.C178T:p.L60F |
|
3 |
153839960 |
2 |
ARHGEF26 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P |
|
3 |
153994596 |
2 |
|
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 |
170825905 |
2 |
TNIK |
C |
G |
exonic |
synonymous SNV |
TNIK:NM_001161565:exon18:c.G2079C:p.A693A,TNIK:NM_001161566:exon18:c.G2079C:p.A693A,TNIK:NM_001161561:exon19:c.G2244C:p.A748A,TNIK:NM_001161562:exon19:c.G2244C:p.A748A,TNIK:NM_001161563:exon19:c.G2166C:p.A722A,TNIK:NM_001161564:exon19:c.G2166C:p.A722A,TNIK:NM_001161560:exon20:c.G2331C:p.A777A,TNIK:NM_015028:exon20:c.G2331C:p.A777A |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
194408704 |
2 |
FAM43A |
A |
G |
exonic |
synonymous SNV |
FAM43A:NM_153690:exon1:c.A1149G:p.S383S |
|
3 |
195451880 |
2 |
MUC20 |
A |
G |
exonic |
nonsynonymous SNV |
MUC20:NM_001282506:exon2:c.A406G:p.R136G,MUC20:NM_001291833:exon2:c.A406G:p.R136G,MUC20:NM_020790:exon2:c.A406G:p.R136G,MUC20:NM_152673:exon2:c.A406G:p.R136G |
|
3 |
195451881 |
2 |
MUC20 |
G |
A |
exonic |
nonsynonymous SNV |
MUC20:NM_001282506:exon2:c.G407A:p.R136K,MUC20:NM_001291833:exon2:c.G407A:p.R136K,MUC20:NM_020790:exon2:c.G407A:p.R136K,MUC20:NM_152673:exon2:c.G407A:p.R136K |
|
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 |
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 |
1165741 |
2 |
SPON2 |
A |
G |
exonic |
nonsynonymous SNV |
SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P |
RS922697 |
Gene expression of SPON2 [transcript
NM_001128325, probe A_23_P121533] in liver |
|
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 |
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 |
3219613 |
2 |
HTT |
A |
C |
exonic |
synonymous SNV |
HTT:NM_002111:exon52:c.A7176C:p.L2392L |
|
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 |
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 |
5743509 |
2 |
EVC |
C |
T |
exonic |
synonymous SNV |
EVC:NM_001306090:exon6:c.C769T:p.L257L,EVC:NM_001306092:exon6:c.C769T:p.L257L,EVC:NM_153717:exon6:c.C769T:p.L257L |
|
4 |
5743512 |
2 |
EVC |
T |
C |
exonic |
nonsynonymous SNV |
EVC:NM_001306090:exon6:c.T772C:p.Y258H,EVC:NM_001306092:exon6:c.T772C:p.Y258H,EVC:NM_153717:exon6:c.T772C:p.Y258H |
RS6414624 |
Schizophrenia:Chronic kidney
disease:Serum ratio of
(1-oleoylglycerophosphoethanolamine)/(1-palmitoylglycerophosphoethanolamine):Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
6600012 |
1 |
MAN2B2 |
A |
G |
exonic |
nonsynonymous SNV |
MAN2B2:NM_001292038:exon9:c.A1183G:p.M395V,MAN2B2:NM_015274:exon9:c.A1336G:p.M446V |
RS2301790 |
LDL cholesterol:Systolic blood
pressure (SBP):Aortic valve calcium:Birth weight |
|
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 |
7765495 |
1 |
AFAP1 |
G |
T |
exonic |
synonymous SNV |
AFAP1:NM_198595:exon17:c.C2190A:p.T730T,AFAP1:NM_001134647:exon18:c.C2442A:p.T814T |
RS2240053 |
Chronic kidney disease:Urinary
albumin-to-creatinine ratio:Bipolar disorder |
|
4 |
7774610 |
1 |
AFAP1 |
C |
T |
exonic |
synonymous SNV |
AFAP1:NM_198595:exon15:c.G1938A:p.A646A,AFAP1:NM_001134647:exon16:c.G2190A:p.A730A |
RS2276967 |
Chronic kidney disease:Urinary
albumin-to-creatinine ratio:Bipolar disorder:Gene expression of AFAP1 in
normal prepouch ileum:Salmonella-induced pyroptosis |
|
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 |
8238151 |
1 |
SH3TC1 |
C |
T |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon16:c.C3324T:p.T1108T,SH3TC1:NM_018986:exon16:c.C3552T:p.T1184T |
|
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 |
8602884 |
2 |
CPZ |
T |
C |
exonic |
synonymous SNV |
CPZ:NM_003652:exon2:c.T123C:p.S41S,CPZ:NM_001014447:exon3:c.T156C:p.S52S |
|
4 |
8602935 |
2 |
CPZ |
A |
G |
exonic |
synonymous SNV |
CPZ:NM_003652:exon2:c.A174G:p.S58S,CPZ:NM_001014447:exon3:c.A207G:p.S69S |
|
4 |
8616096 |
2 |
CPZ |
T |
C |
exonic |
synonymous SNV |
CPZ:NM_003652:exon8:c.T1341C:p.D447D,CPZ:NM_001014447:exon9:c.T1374C:p.D458D,CPZ:NM_001014448:exon9:c.T963C:p.D321D |
|
4 |
8616179 |
2 |
CPZ |
T |
C |
exonic |
nonsynonymous SNV |
CPZ:NM_003652:exon8:c.T1424C:p.I475T,CPZ:NM_001014447:exon9:c.T1457C:p.I486T,CPZ:NM_001014448:exon9:c.T1046C:p.I349T |
|
4 |
8621194 |
2 |
CPZ |
A |
G |
exonic |
synonymous SNV |
CPZ:NM_003652:exon10:c.A1776G:p.P592P,CPZ:NM_001014447:exon11:c.A1809G:p.P603P,CPZ:NM_001014448:exon11:c.A1398G:p.P466P |
|
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 |
17634213 |
2 |
FAM184B |
A |
G |
exonic |
nonsynonymous SNV |
FAM184B:NM_015688:exon18:c.T3125C:p.V1042A |
|
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 |
37836302 |
2 |
PGM2 |
T |
C |
exonic |
synonymous SNV |
PGM2:NM_018290:exon3:c.T312C:p.S104S |
|
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 |
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 |
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 |
40438576 |
2 |
RBM47 |
A |
G |
exonic |
synonymous SNV |
RBM47:NM_001098634:exon5:c.T1212C:p.G404G |
RS2307046 |
Irritible bowel
syndrome:Differential exon level expression of RBM47 [probe 2766803] in
peripheral blood mononuclear cells:Variant Creutzfeldt-Jakob disease:Birth
weight |
|
4 |
40440215 |
2 |
RBM47 |
T |
C |
exonic |
synonymous SNV |
RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E |
RS2291580 |
HDL cholesterol:Advanced age-related
macular degeneration |
|
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 |
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 |
47560163 |
1 |
ATP10D |
C |
A |
exonic |
synonymous SNV |
ATP10D:NM_020453:exon12:c.C2307A:p.I769I |
RS11729411 |
HDL cholesterol:Triglycerides |
|
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 |
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 |
57843320 |
2 |
NOA1 |
A |
G |
exonic |
synonymous SNV |
NOA1:NM_032313:exon1:c.T432C:p.C144C |
|
4 |
68374597 |
2 |
CENPC |
C |
T |
exonic |
synonymous SNV |
CENPC:NM_001812:exon10:c.G1839A:p.S613S |
|
4 |
68380215 |
2 |
CENPC |
G |
A |
exonic |
nonsynonymous SNV |
CENPC:NM_001812:exon8:c.C1021T:p.L341F |
RS11250 |
Parkinson's disease
(PD):Differential exon level expression of CENPC1 [probe 2771679] in
peripheral blood mononuclear cells:Differential exon level expression of
CENPC1 [probe 2771679] in brain cortex:Total cholesterol:Chronic kidney
disease |
|
4 |
68384008 |
2 |
CENPC |
C |
T |
exonic |
synonymous SNV |
CENPC:NM_001812:exon7:c.G696A:p.S232S |
RS355510 |
Total cholesterol:Chronic kidney
disease |
|
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 |
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 |
74318330 |
2 |
AFP |
A |
G |
exonic |
synonymous SNV |
AFP:NM_001134:exon12:c.A1641G:p.T547T |
|
4 |
74863997 |
2 |
CXCL5 |
T |
C |
exonic |
synonymous SNV |
CXCL5:NM_002994:exon2:c.A168G:p.Q56Q |
RS425535 |
Stabilized warfarin
dose:HOMA-IR:Fasting insulin:HOMA-B:Serum concentration of threonine |
|
4 |
77192868 |
2 |
FAM47E;FAM47E-STBD1 |
G |
A |
exonic |
nonsynonymous SNV |
FAM47E:NM_001136570:exon5:c.G817A:p.E273K,FAM47E:NM_001242936:exon5:c.G523A:p.E175K,FAM47E-STBD1:NM_001242939:exon5:c.G817A:p.E273K |
RS3733250 |
Triglycerides:Serum
creatinine:Cystatin C in serum:Parkinson's disease (PD):Gene expression of
SCARB2 in blood:Gene expression of CXCL10 in normal prepouch
ileum:Parkinson's disease |
|
4 |
79387464 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon50:c.A7132G:p.K2378E |
RS7684722 |
Tardive dyskinesia |
|
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 |
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 |
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 |
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 |
87809387 |
2 |
C4orf36 |
G |
T |
exonic |
nonsynonymous SNV |
C4orf36:NM_144645:exon3:c.C107A:p.S36Y |
|
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 |
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 |
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 |
106861730 |
2 |
NPNT |
A |
G |
exonic |
nonsynonymous SNV |
NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V |
RS4340795 |
HDL cholesterol change with
statins:Asthma, childhood onset:Body mass index (BMI):Diastolic blood
pressure (DBP):Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
110581363 |
2 |
MCUB |
T |
A |
exonic |
nonsynonymous SNV |
MCUB:NM_017918:exon3:c.T188A:p.I63N |
RS4698744 |
Total cholesterol:Type 2
diabetes:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD: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 |
113352397 |
2 |
ALPK1 |
G |
A |
exonic |
nonsynonymous SNV |
ALPK1:NM_001253884:exon10:c.G1460A:p.G487D,ALPK1:NM_001102406:exon11:c.G1694A:p.G565D,ALPK1:NM_025144:exon11:c.G1694A:p.G565D |
RS2074388 |
Schizophrenia:Differential exon
level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear
cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Partial
epilepsy:Plasma aldosterone concentration:Plasma aldosterone concentration corrected
by plasma renin activity:Serum ratio of
(1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Bipolar
disorder:Chronic kidney disease |
|
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 |
113352899 |
2 |
ALPK1 |
G |
A |
exonic |
nonsynonymous SNV |
ALPK1:NM_001253884:exon10:c.G1962A:p.M654I,ALPK1:NM_001102406:exon11:c.G2196A:p.M732I,ALPK1:NM_025144:exon11:c.G2196A:p.M732I |
RS2074379 |
Schizophrenia:Differential exon
level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear
cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Partial
epilepsy:Plasma aldosterone concentration:Plasma aldosterone concentration corrected
by plasma renin activity:Serum ratio of
(1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Bipolar
disorder:Chronic kidney disease |
|
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 |
122742217 |
2 |
CCNA2 |
T |
C |
exonic |
nonsynonymous SNV |
CCNA2:NM_001237:exon3:c.A487G:p.I163V |
RS769242 |
Triglycerides |
|
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 |
140005294 |
2 |
ELF2 |
A |
G |
exonic |
synonymous SNV |
ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I |
|
4 |
144467104 |
2 |
SMARCA5 |
T |
C |
exonic |
synonymous SNV |
SMARCA5:NM_003601:exon19:c.T2424C:p.N808N |
|
4 |
153633359 |
2 |
|
4 |
154020114 |
2 |
|
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 |
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 |
164435265 |
1 |
TMA16 |
A |
C |
exonic |
nonsynonymous SNV |
TMA16:NM_018352:exon4:c.A194C:p.Q65P |
RS2304802 |
Gene expression of FLJ11184 in
CEU-CHB-JPT lymphoblastoid cell lines:Serum creatinine:Microalbuminuria |
|
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 |
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 |
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 |
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 |
178274694 |
2 |
NEIL3 |
T |
G |
exonic |
synonymous SNV |
NEIL3:NM_018248:exon8:c.T1272G:p.V424V |
RS10007075 |
Fasting insulin:Cystatin C in
serum:Diabetic retinopathy in Type 2 diabetes mellitus |
|
4 |
178274750 |
2 |
NEIL3 |
C |
T |
exonic |
nonsynonymous SNV |
NEIL3:NM_018248:exon8:c.C1328T:p.P443L |
RS13112358 |
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 |
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 |
186180079 |
1 |
SNX25 |
C |
G |
exonic |
nonsynonymous SNV |
SNX25:NM_001317781:exon3:c.C100G:p.L34V |
|
4 |
186185727 |
1 |
SNX25 |
C |
T |
exonic |
synonymous SNV |
SNX25:NM_001317781:exon4:c.C375T:p.S125S |
|
4 |
186185732 |
1 |
SNX25 |
G |
C |
exonic |
nonsynonymous SNV |
SNX25:NM_001317781:exon4:c.G380C:p.R127P |
|
4 |
187519206 |
2 |
FAT1 |
C |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon23:c.G12177C:p.K4059N |
|
4 |
190864371 |
1 |
FRG1 |
G |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon2:c.G77A:p.S26N |
|
4 |
190874255 |
1 |
FRG1 |
A |
T |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon4:c.A292T:p.T98S |
|
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 |
190876301 |
1 |
FRG1 |
C |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.C427A:p.Q143K |
|
4 |
190883001 |
1 |
FRG1 |
C |
G |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon8:c.C654G:p.D218E |
|
5 |
1057615 |
2 |
SLC12A7 |
A |
G |
exonic |
synonymous SNV |
SLC12A7:NM_006598:exon22:c.T2997C:p.S999S |
RS2241606 |
Fasting blood glucose:HOMA-B |
|
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 |
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 |
7868030 |
2 |
FASTKD3 |
T |
C |
exonic |
nonsynonymous SNV |
FASTKD3:NM_024091:exon2:c.A167G:p.K56R |
RS2966952 |
Gene expression of MTRR [probe
203200_s_at] in lymphoblastoid cell lines:Schizophrenia:Gene expression of
MTRR [probe ILMN_13753] in osteoblasts:Tardive dyskinesia:Alzheimer's
disease:Triglycerides change with statins:Total cholesterol:Cystatin C in
serum:Gene expression of MTRR in Temporal cortex:Gene expression of MTRR in
Frontal cortex:Gene expression of MTRR in Cerebellum:Gene expression of MTRR
in CD4+ lymphocytes:Gene expression of MTRR in blood:Gene expression of MTRR
(probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases:Gene
expression of FASTKD3 in normal prepouch ileum:Gene expression of MTRR in
normal prepouch ileum: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: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 and
controls:Primary rhegmatogenous retinal detachment:Gene expression of MTRR
(probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy
cases |
|
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 |
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 |
21975363 |
2 |
CDH12 |
C |
T |
exonic |
synonymous SNV |
CDH12:NM_001317227:exon3:c.G363A:p.E121E,CDH12:NM_001317228:exon4:c.G363A:p.E121E,CDH12:NM_004061:exon6:c.G363A:p.E121E |
|
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 |
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 |
35709095 |
2 |
SPEF2 |
C |
T |
exonic |
nonsynonymous SNV |
SPEF2:NM_024867:exon19:c.C2711T:p.A904V |
RS13170082 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
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 |
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 |
40852451 |
2 |
CARD6 |
C |
G |
exonic |
synonymous SNV |
CARD6:NM_032587:exon3:c.C1017G:p.T339T |
|
5 |
43492978 |
2 |
C5orf34 |
G |
A |
exonic |
synonymous SNV |
C5orf34:NM_198566:exon9:c.C1329T:p.N443N |
|
5 |
43509348 |
2 |
C5orf34 |
T |
A |
exonic |
nonsynonymous SNV |
C5orf34:NM_198566:exon2:c.A94T:p.T32S |
|
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 |
53606295 |
2 |
ARL15 |
T |
C |
exonic |
synonymous SNV |
ARL15:NM_019087:exon1:c.A15G:p.R5R |
RS35941 |
Irritible bowel syndrome:Total
cholesterol:LDL cholesterol:Serum creatinine:Chronic kidney disease:Gene
expression of PKP3 in peripheral blood monocytes:Systolic blood pressure
(SBP):PROP taste detection threshold:Transmission distortion:Maternal transmission
distortion:Advanced age-related macular degeneration (geographic
atrophy):Salmonella-induced pyroptosis |
|
5 |
53814052 |
2 |
SNX18 |
T |
C |
exonic |
synonymous SNV |
SNX18:NM_001102575:exon1:c.T270C:p.P90P,SNX18:NM_001145427:exon1:c.T270C:p.P90P,SNX18:NM_052870:exon1:c.T270C:p.P90P |
|
5 |
53814394 |
2 |
SNX18 |
T |
C |
exonic |
synonymous SNV |
SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G |
|
5 |
56161787 |
2 |
MAP3K1 |
G |
A |
exonic |
synonymous SNV |
MAP3K1:NM_005921:exon6:c.G1284A:p.T428T |
RS832575 |
Eye color:Gene expression of
NP_714917.1 in blood cells in Celiac disease:Gene expression of MGC33648
[probe ILMN_28708] in osteoblasts:Lp-PLA2 mass: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:Gene expression of C5orf35 in
CD4+ lymphocytes:Waist hip ratio:Height:Gene expression of C5orf35 in
blood:Gene expression of C5orf35 [probeset 238465_at] in sputum:Bipolar
disorder:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in
Alzheimer's disease cases:Gene expression of C5orf35 (probeID ILMN_1757636)
in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease
cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in Alzheimer's disease cases and
controls:Parkinson's disease:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in non-Alzheimer's disease samples:Gene
expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Progressive
Supranuclear Palsy cases |
|
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 |
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 |
68531253 |
1 |
CDK7 |
C |
T |
exonic |
nonsynonymous SNV |
CDK7:NM_001324071:exon2:c.C65T:p.T22I |
|
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 |
70281273 |
2 |
NAIP |
C |
T |
exonic |
nonsynonymous SNV |
NAIP:NM_022892:exon10:c.G1117A:p.V373M,NAIP:NM_001346870:exon12:c.G1603A:p.V535M,NAIP:NM_004536:exon12:c.G1603A:p.V535M |
|
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 |
70806958 |
2 |
BDP1 |
G |
A |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon17:c.G4039A:p.V1347M |
RS6886336 |
Triglycerides:PROP taste detection
threshold |
|
5 |
70858261 |
1 |
BDP1 |
G |
A |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon38:c.G7657A:p.E2553K |
|
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 |
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 |
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 |
73981270 |
2 |
HEXB |
T |
C |
exonic |
nonsynonymous SNV |
HEXB:NM_000521:exon1:c.T185C:p.L62S |
|
5 |
75003678 |
1 |
POC5 |
T |
C |
exonic |
nonsynonymous SNV |
POC5:NM_152408:exon2:c.A32G:p.H11R,POC5:NM_001099271:exon3:c.A107G:p.H36R |
RS2307111 |
Eye color:Irritible bowel
syndrome:LDL cholesterol:LDL cholesterol:Total cholesterol:HDL
cholesterol:LDL cholesterol:Total cholesterol:Body mass index (BMI):Gene
expression of [probe 5360296 centered at chr5:74934759] in blood:Diastolic
blood pressure (DBP):Comorbid depressive syndrome and alcohol
dependence:Obesity class:Advanced age-related macular degeneration |
|
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 |
76128521 |
2 |
F2RL1 |
G |
A |
exonic |
nonsynonymous SNV |
F2RL1:NM_005242:exon2:c.G89A:p.S30N |
|
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 |
79945871 |
2 |
MTRNR2L2 |
G |
A |
exonic |
nonsynonymous SNV |
MTRNR2L2:NM_001190470:exon1:c.C35T:p.S12L |
|
5 |
81354389 |
1 |
ATG10 |
T |
C |
exonic |
nonsynonymous SNV |
ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P |
RS3734114 |
Gene expression of ATG10 [probe
1570523_s_at] in lymphoblastoid cell lines:Irritible bowel
syndrome:Schizophrenia:Rheumatoid arthritis:Partial epilepsy:Late onset
Alzheimer's disease |
|
5 |
89769728 |
2 |
MBLAC2 |
T |
C |
exonic |
nonsynonymous SNV |
MBLAC2:NM_203406:exon1:c.A382G:p.T128A |
|
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 |
98109838 |
2 |
RGMB |
A |
C |
exonic |
nonsynonymous SNV |
RGMB:NM_001012761:exon3:c.A187C:p.S63R |
|
5 |
99941705 |
2 |
|
5 |
108516459 |
1 |
FER |
C |
T |
exonic |
nonsynonymous SNV |
FER:NM_001308031:exon9:c.C953T:p.A318V,FER:NM_001308028:exon16:c.C1535T:p.A512V,FER:NM_005246:exon18:c.C2060T:p.A687V |
|
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 |
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 |
112328377 |
2 |
DCP2 |
A |
G |
exonic |
synonymous SNV |
DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L |
RS3733969 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol
dependence:Variant Creutzfeldt-Jakob disease:Birth weight:Gene expression
change of REEP5 (ENSG00000129625) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
5 |
112384802 |
2 |
MCC |
G |
A |
exonic |
synonymous SNV |
MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D |
RS6594664 |
Body mass index (BMI):Paternal
transmission distortion:Maternal transmission distortion:Transmission
distortion:Obesity with early age of onset (age >2) |
|
5 |
112439941 |
2 |
MCC |
T |
C |
exonic |
nonsynonymous SNV |
MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R |
|
5 |
112479004 |
2 |
MCC |
T |
C |
exonic |
synonymous SNV |
MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T |
|
5 |
112929013 |
1 |
YTHDC2 |
T |
A |
exonic |
nonsynonymous SNV |
YTHDC2:NM_001345976:exon27:c.T3326A:p.L1109Q,YTHDC2:NM_001345975:exon28:c.T3740A:p.L1247Q,YTHDC2:NM_022828:exon29:c.T4226A:p.L1409Q |
RS1132528 |
Total cholesterol change with
statins:LDL cholesterol:Triglycerides change with statins:College
completion:Gene expression of YTHDC2 (probeID ILMN_1725760) in cerebellum in
Alzheimer's disease cases and controls:Years of education |
|
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 |
115469773 |
1 |
COMMD10 |
C |
T |
exonic |
synonymous SNV |
COMMD10:NM_001308080:exon5:c.C366T:p.T122T,COMMD10:NM_016144:exon5:c.C408T:p.T136T |
RS2048220 |
Serum creatinine |
|
5 |
118484804 |
2 |
DMXL1 |
G |
A |
exonic |
synonymous SNV |
DMXL1:NM_001290321:exon18:c.G3282A:p.E1094E,DMXL1:NM_001290322:exon18:c.G2763A:p.E921E,DMXL1:NM_005509:exon18:c.G3282A:p.E1094E,DMXL1:NM_001349239:exon19:c.G3282A:p.E1094E,DMXL1:NM_001349240:exon19:c.G3282A:p.E1094E |
RS7734532 |
Total cholesterol change with
statins |
|
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 |
131007949 |
1 |
FNIP1 |
C |
T |
exonic |
nonsynonymous SNV |
FNIP1:NM_001008738:exon13:c.G2104A:p.E702K,FNIP1:NM_001346114:exon13:c.G2053A:p.E685K,FNIP1:NM_133372:exon14:c.G2188A:p.E730K |
|
5 |
131602166 |
1 |
PDLIM4 |
T |
C |
exonic |
synonymous SNV |
PDLIM4:NM_001131027:exon3:c.T255C:p.G85G,PDLIM4:NM_003687:exon3:c.T255C:p.G85G |
RS1007602 |
Height:Eye color:Longstanding
arthritis:Triglycerides:Alzheimer's disease:Fasting blood
glucose:Triglycerides change with statins:Total cholesterol change with
statins:Triglycerides:HDL cholesterol:Asthma:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of SLC22A4 in blood:Gene
expression of SLC22A5 in blood:Gene expression of PDLIM4 [probeset
218691_s_at] in sputum:Gene expression of PDLIM4 [probeset 214175_x_at] in
sputum:Gene expression of PDLIM4 [probeset 214174_s_at] in sputum:Gene
expression of PDLIM4 [probeset 211564_s_at] in sputum:Age at death with kuru
exposure:College completion:Gene expression of SLC22A4 in normal prepouch
ileum:Advanced age-related macular degeneration |
|
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 |
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 |
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 |
137717265 |
2 |
KDM3B |
G |
A |
exonic |
nonsynonymous SNV |
KDM3B:NM_016604:exon6:c.G766A:p.A256T |
|
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 |
140048209 |
1 |
WDR55 |
T |
C |
exonic |
synonymous SNV |
WDR55:NM_017706:exon4:c.T393C:p.N131N |
|
5 |
140048267 |
2 |
WDR55 |
T |
C |
exonic |
nonsynonymous SNV |
WDR55:NM_017706:exon4:c.T451C:p.C151R |
|
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 |
145439647 |
2 |
SH3RF2 |
T |
C |
exonic |
nonsynonymous SNV |
SH3RF2:NM_152550:exon9:c.T1774C:p.W592R |
|
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 |
148407708 |
2 |
SH3TC2 |
A |
C |
exonic |
synonymous SNV |
SH3TC2:NM_024577:exon11:c.T1587G:p.R529R |
RS1432794 |
Barnes Akathisia Rating Scale:HDL
cholesterol change with statins |
|
5 |
148682039 |
2 |
|
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 |
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 |
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 |
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 |
156479424 |
2 |
HAVCR1 |
A |
C |
exonic |
synonymous SNV |
HAVCR1:NM_012206:exon3:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T,HAVCR1:NM_001308156:exon4:c.T621G:p.T207T |
|
5 |
156479509 |
2 |
HAVCR1 |
A |
G |
exonic |
nonsynonymous SNV |
HAVCR1:NM_012206:exon3:c.T536C:p.L179P,HAVCR1:NM_001173393:exon4:c.T536C:p.L179P,HAVCR1:NM_001308156:exon4:c.T536C:p.L179P |
RS1553316 |
LDL cholesterol:Triglycerides
change with statins:Triglycerides:LDL cholesterol:Total cholesterol:Coronary
artery disease (CAD):Advanced age-related macular degeneration (geographic
atrophy) |
|
5 |
156482459 |
2 |
HAVCR1 |
G |
T |
exonic |
synonymous SNV |
HAVCR1:NM_012206:exon2:c.C132A:p.S44S,HAVCR1:NM_001173393:exon3:c.C132A:p.S44S,HAVCR1:NM_001308156:exon3:c.C132A:p.S44S |
|
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 |
167913510 |
1 |
RARS |
G |
A |
exonic |
nonsynonymous SNV |
RARS:NM_002887:exon1:c.G7A:p.V3I |
RS244903 |
Irritible bowel
syndrome: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:Partial
epilepsy:Asthma:Carboplatin IC50 in B lymphoblastoid cell lines:Age at death
with kuru exposure:Gene expression of FBLL1 in normal prepouch ileum |
|
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 |
176025938 |
2 |
GPRIN1 |
T |
C |
exonic |
nonsynonymous SNV |
GPRIN1:NM_052899:exon2:c.A898G:p.M300V |
|
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 |
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 |
176930135 |
2 |
DOK3 |
G |
A |
exonic |
nonsynonymous SNV |
DOK3:NM_001144876:exon5:c.C598T:p.R200C,DOK3:NM_001144875:exon6:c.C904T:p.R302C |
RS28376231 |
Salmonella-induced pyroptosis |
|
5 |
176951276 |
2 |
FAM193B |
A |
G |
exonic |
nonsynonymous SNV |
FAM193B:NM_001190946:exon6:c.T2206C:p.S736P |
|
5 |
178634619 |
2 |
ADAMTS2 |
C |
T |
exonic |
synonymous SNV |
ADAMTS2:NM_014244:exon4:c.G786A:p.A262A,ADAMTS2:NM_021599:exon4:c.G786A:p.A262A |
RS423552 |
PROP taste detection threshold |
|
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 |
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? |
|
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 |
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 |
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 |
3264527 |
2 |
PSMG4 |
T |
C |
exonic |
nonsynonymous SNV |
PSMG4:NM_001128592:exon3:c.T335C:p.L112P |
|
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 |
3727811 |
2 |
PXDC1 |
C |
G |
exonic |
nonsynonymous SNV |
PXDC1:NM_183373:exon4:c.G552C:p.Q184H |
RS226959 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
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 |
5086070 |
2 |
PPP1R3G |
A |
G |
exonic |
synonymous SNV |
PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A |
|
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 |
7211818 |
2 |
RREB1 |
G |
A |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon8:c.G583A:p.G195R,RREB1:NM_001003699:exon8:c.G583A:p.G195R,RREB1:NM_001003700:exon8:c.G583A:p.G195R,RREB1:NM_001168344:exon8:c.G583A:p.G195R |
RS1334576 |
Gene expression of probe
228487_s_at in lymphoblastoid cell lines:Hip bone mineral density
(BMD):Differential exon level expression of RREB1 [probe 2893615] in
peripheral blood mononuclear cells:Total cholesterol:Height:Waist hip
ratio:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Age at death with
kuru exposure:College completion:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
7246998 |
1 |
RREB1 |
G |
A |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon11:c.G4150A:p.G1384R,RREB1:NM_001168344:exon11:c.G4150A:p.G1384R,RREB1:NM_001003699:exon12:c.G4315A:p.G1439R |
|
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 |
10085674 |
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 |
12122645 |
2 |
HIVEP1 |
A |
G |
exonic |
nonsynonymous SNV |
HIVEP1:NM_002114:exon4:c.A2617G:p.T873A |
|
6 |
12123249 |
1 |
HIVEP1 |
A |
G |
exonic |
nonsynonymous SNV |
HIVEP1:NM_002114:exon4:c.A3221G:p.N1074S |
RS2228220 |
Cystatin C in serum:Lp-PLA2
mass:LDL cholesterol:Neuroblastoma (brain cancer):Venous thrombosis |
|
6 |
12294258 |
2 |
EDN1 |
A |
G |
exonic |
synonymous SNV |
EDN1:NM_001168319:exon3:c.A315G:p.E105E,EDN1:NM_001955:exon3:c.A318G:p.E106E |
RS5369 |
LDL cholesterol change with
statins:Waist hip ratio |
|
6 |
12296255 |
1 |
EDN1 |
G |
T |
exonic |
nonsynonymous SNV |
EDN1:NM_001168319:exon5:c.G591T:p.K197N,EDN1:NM_001955:exon5:c.G594T:p.K198N |
RS5370 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Chronic kidney
disease:Intracranial aneurysm:Systolic blood pressure (SBP):plasma levels of
midregional-proadrenomedullin and C-terminal-pro-endothelin-1 |
|
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 |
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 |
17665479 |
1 |
NUP153 |
G |
C |
exonic |
nonsynonymous SNV |
NUP153:NM_001278209:exon9:c.C1206G:p.N402K,NUP153:NM_001278210:exon9:c.C1206G:p.N402K,NUP153:NM_005124:exon9:c.C1206G:p.N402K |
RS6906499 |
Lp-PLA2 activity:Height:Mitral
annular calcium |
|
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 |
17764530 |
1 |
KIF13A |
C |
T |
exonic |
synonymous SNV |
KIF13A:NM_001105567:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105568:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105566:exon38:c.G5124A:p.E1708E,KIF13A:NM_022113:exon39:c.G5229A:p.E1743E |
|
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 |
17781450 |
1 |
KIF13A |
G |
A |
exonic |
synonymous SNV |
KIF13A:NM_001105567:exon29:c.C3588T:p.S1196S,KIF13A:NM_001105568:exon29:c.C3588T:p.S1196S,KIF13A:NM_001105566:exon30:c.C3627T:p.S1209S,KIF13A:NM_022113:exon30:c.C3627T:p.S1209S |
RS942376 |
Advanced age-related macular
degeneration |
|
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 |
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 |
25605091 |
2 |
CARMIL1 |
G |
A |
exonic |
nonsynonymous SNV |
CARMIL1:NM_001173977:exon34:c.G3604A:p.G1202S,CARMIL1:NM_017640:exon34:c.G3604A:p.G1202S |
RS1012899 |
Irritible bowel syndrome:Fasting
blood glucose:Gene expression of BTN3A2 in peripheral blood monocytes:Gene
expression of LRRC16 in blood:Age at death with kuru exposure:Adiponectin
levels:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early
onset hypertension) |
|
6 |
26285560 |
2 |
HIST1H4H |
A |
G |
exonic |
synonymous SNV |
HIST1H4H:NM_003543:exon1:c.T168C:p.R56R |
RS2393592 |
Type 1 diabetes, combined control
dataset:Major depressive disorder:2 hour glucose:HDL cholesterol:Total
cholesterol change with statins:Methylation levels at chr15:38673339-38673389
[hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at chr11:65872173-65872223
[hg18 coord, probe cg10839997] in Cerebellum:Methylation levels at
chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Temporal
cortex:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe
cg21824213] in Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18
coord, probe cg21824213] in Caudal pons:Methylation levels at
chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Temporal
cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe
cg10839997] in Frontal cortex:Gene expression of HIST1H4H in peripheral blood
monocytes:Gene expression of SIPA1L2 in peripheral blood monocytes:Gene
expression of HIST1H2BD in peripheral blood monocytes:Gene expression of
HIST1H4E in peripheral blood monocytes:HDL cholesterol:Total
cholesterol:Height:Bipolar disorder:Gene expression of HIST1H2BF (probeID
ILMN_1779373) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in
Alzheimer's disease cases and controls |
|
6 |
26285683 |
2 |
HIST1H4H |
T |
C |
exonic |
synonymous SNV |
HIST1H4H:NM_003543:exon1:c.A45G:p.G15G |
RS2393593 |
2 hour glucose:HDL
cholesterol:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe
cg21824213] in Temporal cortex:Methylation levels at chr11:65872173-65872223
[hg18 coord, probe cg10839997] in Temporal cortex:Methylation levels at
chr11:65872173-65872223 [hg18 coord, probe cg10839997] in
Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe
cg21824213] in Caudal pons:Methylation levels at chr15:38673339-38673389
[hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at
chr15:38673339-38673389 [hg18 coord, probe cg21824213] in
Cerebellum:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe
cg10839997] in Frontal cortex:Total cholesterol:HDL cholesterol:Height:PROP
taste detection threshold:Gene expression of HIST1H4H in normal prepouch
ileum:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in
Alzheimer's disease cases and controls:Years of education:Gene expression of
HIST1H2BF (probeID ILMN_1779373) in temporal cortex in Alzheimer's disease
cases and controls |
|
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 |
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 |
28219661 |
1 |
ZKSCAN4 |
G |
A |
exonic |
nonsynonymous SNV |
ZKSCAN4:NM_019110:exon1:c.C98T:p.S33F |
|
6 |
28239915 |
1 |
ZSCAN26 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS11965538 |
Serum creatinine:HDL
cholesterol:Comorbid depressive syndrome and alcohol dependence:Infant head
circumference:Gene expression of ZSCAN23 in normal prepouch ileum |
|
6 |
28297313 |
1 |
ZSCAN31 |
T |
A |
exonic |
nonsynonymous SNV |
ZSCAN31:NM_001135216:exon2:c.A148T:p.T50S,ZSCAN31:NM_001243241:exon2:c.A148T:p.T50S,ZSCAN31:NM_030899:exon2:c.A148T:p.T50S,ZSCAN31:NM_001135215:exon6:c.A148T:p.T50S,ZSCAN31:NM_145909:exon6:c.A148T:p.T50S |
RS853678 |
Gene expression of BTN3A2 [probe
212613_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 [probe
204820_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A3 [probe
204820_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 [probe
209846_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 in
lymphoblastoid cell lines:Gene expression of BTN3A3 in lymphoblastoid cell
lines:Serum creatinine:HDL cholesterol:Comorbid depressive syndrome and
alcohol dependence:Infant head circumference |
|
6 |
29693011 |
2 |
HLA-F |
C |
T |
exonic |
nonsynonymous SNV |
HLA-F:NM_001098479:exon4:c.C814T:p.P272S,HLA-F:NM_018950:exon4:c.C814T:p.P272S |
RS1736924 |
Serum creatinine:Cystatin C in
serum:Rheumatoid arthritis:Height |
|
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 |
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 |
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 |
29911207 |
1 |
HLA-A |
G |
A |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.G506A:p.R169H,HLA-A:NM_002116:exon3:c.G506A:p.R169H |
|
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 |
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 |
29913042 |
2 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon7:c.C1077T:p.S359S,HLA-A:NM_002116:exon7:c.C1077T:p.S359S |
|
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 |
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 |
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 |
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 |
30882203 |
2 |
VARS2 |
T |
C |
exonic |
synonymous SNV |
VARS2:NM_001167734:exon1:c.T15C:p.A5A |
|
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 |
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 |
31084964 |
2 |
CDSN |
T |
C |
exonic |
nonsynonymous SNV |
CDSN:NM_001264:exon2:c.A428G:p.N143S |
RS3130984 |
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 HLA-DQB1 [probe
212999_x_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe
209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 in
lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell
lines:Rheumatoid arthritis:Body mass index (BMI):HIV-1 control |
|
6 |
31085200 |
2 |
CDSN |
A |
G |
exonic |
synonymous SNV |
CDSN:NM_001264:exon2:c.T192C:p.G64G |
RS3132553 |
Rheumatoid arthritis:Body mass index
(BMI):HIV-1 control |
|
6 |
31111180 |
2 |
CCHCR1 |
T |
C |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon16:c.A2070G:p.L690L,CCHCR1:NM_001105564:exon16:c.A2178G:p.L726L,CCHCR1:NM_019052:exon16:c.A1911G:p.L637L |
RS130073 |
Gene expression of HCG27 [probe
1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid
cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL
cholesterol change with statins:Serum creatinine:Rheumatoid arthritis:Total
cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration (geographic atrophy):Advanced
age-related macular degeneration |
|
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 |
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 |
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 |
31237786 |
2 |
HLA-C |
A |
T |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon5:c.T972A:p.L324L,HLA-C:NM_002117:exon5:c.T972A:p.L324L |
|
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 |
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 |
31238234 |
1 |
HLA-C |
G |
A |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon4:c.C648T:p.H216H,HLA-C:NM_002117:exon4:c.C648T:p.H216H |
RS1050344 |
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 |
31238992 |
1 |
HLA-C |
G |
C |
exonic |
synonymous SNV |
HLA-C:NM_001243042:exon3:c.C477G:p.A159A,HLA-C:NM_002117:exon3:c.C477G:p.A159A |
|
6 |
31239006 |
1 |
HLA-C |
G |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon3:c.C463A:p.R155S,HLA-C:NM_002117:exon3:c.C463A:p.R155S |
|
6 |
31239821 |
2 |
HLA-C |
G |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon1:c.C28A:p.L10I,HLA-C:NM_002117:exon1:c.C28A:p.L10I |
|
6 |
31239827 |
2 |
HLA-C |
C |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon1:c.G22A:p.A8T,HLA-C:NM_002117:exon1:c.G22A:p.A8T |
RS2308525 |
Sarcoidosis |
|
6 |
31323215 |
1 |
HLA-B |
T |
C |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.A774G:p.R258R |
|
6 |
31323296 |
2 |
HLA-B |
A |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.T693C:p.G231G |
|
6 |
31324104 |
1 |
HLA-B |
G |
A |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon3:c.C459T:p.D153D |
|
6 |
31324151 |
2 |
HLA-B |
C |
T |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon3:c.G412A:p.D138N |
RS71543422 |
Myasthenia gravis:Myasthenia gravis |
|
6 |
31324931 |
2 |
HLA-B |
A |
C |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon1:c.T5G:p.L2R |
|
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 |
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 |
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 |
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 |
31731881 |
2 |
SAPCD1 |
C |
T |
exonic |
nonsynonymous SNV |
SAPCD1:NM_001039651:exon3:c.C296T:p.P99L |
RS6905572 |
HDL cholesterol:Rheumatoid
arthritis:Height:Systolic blood pressure (SBP):Diabetic retinopathy in Type 2
diabetes mellitus:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Years of education:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (geographic
atrophy) |
|
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 |
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 |
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 |
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 |
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 |
31948448 |
1 |
STK19 |
A |
G |
exonic |
nonsynonymous SNV |
STK19:NM_004197:exon7:c.A919G:p.S307G,STK19:NM_032454:exon7:c.A931G:p.S311G |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
39933339 |
2 |
|
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 |
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 |
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 |
43152573 |
1 |
CUL9 |
A |
G |
exonic |
synonymous SNV |
CUL9:NM_015089:exon2:c.A525G:p.L175L |
|
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 |
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 |
43336771 |
2 |
ZNF318 |
C |
T |
exonic |
synonymous SNV |
ZNF318:NM_014345:exon1:c.G333A:p.R111R |
|
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 |
47563692 |
2 |
CD2AP |
C |
T |
exonic |
synonymous SNV |
CD2AP:NM_012120:exon12:c.C1204T:p.L402L |
|
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 |
74533192 |
2 |
CD109 |
T |
G |
exonic |
synonymous SNV |
CD109:NM_001159588:exon32:c.T3942G:p.A1314A,CD109:NM_001159587:exon33:c.T4122G:p.A1374A,CD109:NM_133493:exon33:c.T4173G:p.A1391A |
RS2917887 |
Cystatin C in serum:Diastolic blood
pressure (DBP):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
6 |
79708000 |
2 |
PHIP |
A |
C |
exonic |
nonsynonymous SNV |
PHIP:NM_017934:exon18:c.T1988G:p.V663G |
RS7747479 |
Urinary albumin-to-creatinine
ratio:Sporadic Creutzfeldt-Jakob disease |
|
6 |
83075914 |
2 |
TPBG |
G |
A |
exonic |
synonymous SNV |
TPBG:NM_001166392:exon2:c.G1236A:p.T412T,TPBG:NM_006670:exon3:c.G1236A:p.T412T |
|
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 |
90340276 |
2 |
ANKRD6 |
G |
A |
exonic |
synonymous SNV |
ANKRD6:NM_001242814:exon13:c.G1545A:p.S515S,ANKRD6:NM_001242813:exon15:c.G1632A:p.S544S,ANKRD6:NM_001242809:exon16:c.G1737A:p.S579S,ANKRD6:NM_001242811:exon16:c.G1737A:p.S579S,ANKRD6:NM_014942:exon16:c.G1722A:p.S574S |
RS3210511 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Differential exon level expression of
ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol:Age at death with kuru
exposure |
|
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 |
90418262 |
2 |
MDN1 |
C |
T |
exonic |
synonymous SNV |
MDN1:NM_014611:exon51:c.G7851A:p.T2617T |
RS2026634 |
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 |
90455084 |
2 |
MDN1 |
A |
G |
exonic |
synonymous SNV |
MDN1:NM_014611:exon29:c.T4086C:p.H1362H |
RS9359861 |
Chronic kidney disease:Rheumatoid
arthritis |
|
6 |
90459454 |
2 |
MDN1 |
G |
A |
exonic |
synonymous SNV |
MDN1:NM_014611:exon25:c.C3423T:p.A1141A |
|
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 |
100964147 |
2 |
ASCC3 |
G |
C |
exonic |
nonsynonymous SNV |
ASCC3:NM_006828:exon39:c.C5984G:p.S1995C |
RS240780 |
Rheumatoid arthritis:LDL
cholesterol:Total cholesterol |
|
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 |
106200202 |
2 |
|
6 |
106992464 |
2 |
CRYBG1 |
A |
G |
exonic |
synonymous SNV |
CRYBG1:NM_001624:exon10:c.A3834G:p.K1278K |
RS1799693 |
Mitral annular calcium |
|
6 |
111696852 |
2 |
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 |
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 |
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 |
130381246 |
2 |
L3MBTL3 |
T |
C |
exonic |
synonymous SNV |
L3MBTL3:NM_001007102:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346550:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346551:exon9:c.T750C:p.P250P,L3MBTL3:NM_032438:exon10:c.T825C:p.P275P |
RS7451021 |
2 hour glucose:Serum
creatinine:Gene expression of L3MBTL3 in peripheral blood
monocytes:Triglycerides:HDL cholesterol:Total cholesterol:Height:Waist hip
ratio:Body mass index (BMI):Myopia:Infant head circumference:Acute lung
injury following major trauma:Refractive error |
|
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 |
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 |
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 |
143091263 |
2 |
HIVEP2 |
A |
G |
exonic |
nonsynonymous SNV |
HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P |
RS109836 |
Triglycerides change with
statins:Cystatin C in serum:Mitral annular calcium |
|
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 |
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 |
152540278 |
2 |
SYNE1 |
A |
C |
exonic |
nonsynonymous SNV |
SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V |
RS2147377 |
Parkinson's disease |
|
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 |
155451352 |
1 |
TIAM2 |
G |
A |
exonic |
nonsynonymous SNV |
TIAM2:NM_012454:exon3:c.G995A:p.R332H |
RS931312 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Irritible bowel syndrome:Alzheimer's
disease:Triglycerides change with statins:PROP taste detection
threshold:Years of education:College completion:Adiponectin levels |
|
6 |
155561760 |
2 |
TIAM2 |
T |
C |
exonic |
nonsynonymous SNV |
TIAM2:NM_001010927:exon2:c.T40C:p.S14P,TIAM2:NM_012454:exon15:c.T3265C:p.S1089P |
|
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 |
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 |
158924088 |
2 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_020245:exon13:c.T3393C:p.D1131D |
|
6 |
160505199 |
2 |
IGF2R |
C |
G |
exonic |
synonymous SNV |
IGF2R:NM_000876:exon40:c.C6051G:p.L2017L |
RS614754 |
Serum creatinine:Height |
|
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 |
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 |
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 |
814788 |
2 |
DNAAF5 |
G |
A |
exonic |
nonsynonymous SNV |
DNAAF5:NM_017802:exon11:c.G2228A:p.R743K |
RS3922641 |
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 |
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 |
1542814 |
2 |
INTS1 |
T |
C |
exonic |
synonymous SNV |
INTS1:NM_001080453:exon3:c.A72G:p.P24P |
RS3752715 |
LDL cholesterol change with
statins:Serum creatinine:Chronic kidney disease |
|
7 |
4802029 |
2 |
FOXK1 |
T |
G |
exonic |
synonymous SNV |
FOXK1:NM_001037165:exon9:c.T2136G:p.G712G |
|
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 |
5372406 |
2 |
TNRC18 |
G |
T |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R |
|
7 |
5427720 |
2 |
TNRC18 |
A |
G |
exonic |
nonsynonymous SNV |
TNRC18:NM_001080495:exon5:c.T1735C:p.S579P |
|
7 |
5540769 |
2 |
FBXL18 |
A |
C |
exonic |
synonymous SNV |
FBXL18:NM_001321213:exon3:c.T1131G:p.T377T,FBXL18:NM_024963:exon3:c.T1131G:p.T377T |
|
7 |
6071060 |
2 |
ANKRD61 |
G |
A |
exonic |
synonymous SNV |
ANKRD61:NM_001271700:exon1:c.G54A:p.K18K |
|
7 |
6075823 |
2 |
ANKRD61 |
A |
T |
exonic |
nonsynonymous SNV |
ANKRD61:NM_001271700:exon3:c.A1063T:p.M355L |
RS2302334 |
Gene expression of HRI in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of EIF2AK1 [probe
217735_s_at] in lymphoblastoid cell lines:HDL cholesterol:Fasting blood
glucose:Gene expression of JTV1 in peripheral blood monocytes:Total
cholesterol:Bipolar disorder:Paternal transmission distortion:Transmission
distortion |
|
7 |
6204999 |
1 |
CYTH3 |
A |
C |
exonic |
synonymous SNV |
CYTH3:NM_004227:exon12:c.T1032G:p.T344T |
|
7 |
6505901 |
2 |
KDELR2 |
T |
C |
exonic |
synonymous SNV |
KDELR2:NM_006854:exon4:c.A405G:p.L135L |
|
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 |
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 |
16834597 |
1 |
AGR2 |
A |
G |
exonic |
synonymous SNV |
AGR2:NM_006408:exon7:c.T441C:p.N147N |
RS6842 |
Infant head circumference:Gene
expression of TSPAN13 in normal prepouch ileum |
|
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 |
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 |
26245998 |
1 |
CBX3 |
G |
A |
exonic |
nonsynonymous SNV |
CBX3:NM_007276:exon3:c.G35A:p.G12E,CBX3:NM_016587:exon3:c.G35A:p.G12E |
|
7 |
27169093 |
2 |
HOXA4 |
T |
G |
exonic |
synonymous SNV |
HOXA4:NM_002141:exon2:c.A714C:p.R238R |
RS2158218 |
Mitral annular calcium |
|
7 |
27170145 |
2 |
HOXA4 |
T |
G |
exonic |
nonsynonymous SNV |
HOXA4:NM_002141:exon1:c.A208C:p.T70P |
|
7 |
27196069 |
2 |
HOXA7 |
A |
C |
exonic |
synonymous SNV |
HOXA7:NM_006896:exon1:c.T96G:p.A32A |
RS2301720 |
Gene expression of probe 228642_at
in lymphoblastoid cell lines:Gene expression of probe 1557051_s_at in
lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body
mass index (BMI):Bipolar disorder:Years of education:Mitral annular calcium |
|
7 |
27196113 |
2 |
HOXA7 |
C |
T |
exonic |
nonsynonymous SNV |
HOXA7:NM_006896:exon1:c.G52A:p.A18T |
RS2301721 |
Gene expression of probe
1557051_s_at in lymphoblastoid cell lines:Fasting
insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body mass index (BMI):Gene expression
of [probe 5340519 centered at chr7:27104823] in blood:College completion |
|
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 |
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 |
36320821 |
2 |
EEPD1 |
G |
A |
exonic |
nonsynonymous SNV |
EEPD1:NM_030636:exon4:c.G1028A:p.S343N |
RS196586 |
Systolic blood pressure (SBP) |
|
7 |
36338749 |
2 |
EEPD1 |
T |
C |
exonic |
synonymous SNV |
EEPD1:NM_030636:exon8:c.T1644C:p.D548D |
RS196613 |
HOMA-IR:Height |
|
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 |
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 |
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 |
44924627 |
1 |
PURB |
A |
C |
exonic |
synonymous SNV |
PURB:NM_033224:exon1:c.T321G:p.A107A |
|
7 |
50673029 |
2 |
GRB10 |
T |
C |
exonic |
synonymous SNV |
GRB10:NM_001001549:exon11:c.A1209G:p.A403A,GRB10:NM_001001550:exon12:c.A1173G:p.A391A,GRB10:NM_001350815:exon12:c.A1461G:p.A487A,GRB10:NM_001001555:exon13:c.A1173G:p.A391A,GRB10:NM_001350816:exon14:c.A1329G:p.A443A,GRB10:NM_001350814:exon15:c.A1347G:p.A449A |
RS4947710 |
LDL cholesterol:Triglycerides:HDL
cholesterol:Fasting blood glucose:HOMA-IR:Fasting insulin:Mitral annular
calcium |
|
7 |
55229255 |
1 |
EGFR |
G |
A |
exonic |
nonsynonymous SNV |
EGFR:NM_001346941:exon7:c.G761A:p.R254K,EGFR:NM_001346897:exon12:c.G1427A:p.R476K,EGFR:NM_001346899:exon12:c.G1427A:p.R476K,EGFR:NM_001346898:exon13:c.G1562A:p.R521K,EGFR:NM_001346900:exon13:c.G1403A:p.R468K,EGFR:NM_005228:exon13:c.G1562A:p.R521K,EGFR:NM_201282:exon13:c.G1562A:p.R521K,EGFR:NM_201284:exon13:c.G1562A:p.R521K |
RS2227983 |
Chronic kidney disease:Bipolar
disorder |
|
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 |
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 |
72744195 |
2 |
FKBP6 |
G |
A |
exonic |
nonsynonymous SNV |
FKBP6:NM_001281304:exon3:c.G218A:p.R73Q,FKBP6:NM_001135211:exon4:c.G293A:p.R98Q,FKBP6:NM_003602:exon4:c.G308A:p.R103Q |
|
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 |
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 |
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 |
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 |
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 |
76110047 |
1 |
DTX2 |
C |
G |
exonic |
nonsynonymous SNV |
DTX2:NM_001102596:exon1:c.C221G:p.P74R,DTX2:NM_001102595:exon2:c.C221G:p.P74R,DTX2:NM_001102594:exon3:c.C221G:p.P74R,DTX2:NM_020892:exon4:c.C221G:p.P74R |
|
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 |
76132898 |
2 |
DTX2 |
T |
C |
exonic |
synonymous SNV |
DTX2:NM_001102596:exon6:c.T1404C:p.G468G,DTX2:NM_001102595:exon8:c.T1545C:p.G515G,DTX2:NM_001102594:exon9:c.T1545C:p.G515G,DTX2:NM_020892:exon10:c.T1545C:p.G515G |
|
7 |
77035392 |
2 |
GSAP |
T |
C |
exonic |
nonsynonymous SNV |
GSAP:NM_001350896:exon2:c.A140G:p.H47R,GSAP:NM_001350897:exon2:c.A140G:p.H47R,GSAP:NM_001350898:exon2:c.A140G:p.H47R,GSAP:NM_001350899:exon2:c.A140G:p.H47R,GSAP:NM_017439:exon2:c.A140G:p.H47R |
RS6949654 |
Gene expression of PION [probe
213142_x_at] in lymphoblastoid cell lines:Gene expression of PION [probe
222150_s_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):LDL cholesterol:Serum creatinine:Asthma:Systolic blood pressure
(SBP):Bipolar disorder |
|
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 |
89912301 |
2 |
CFAP69 |
G |
A |
exonic |
nonsynonymous SNV |
CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M |
RS1029365 |
2 hour glucose:Fasting blood
glucose:Partial epilepsy:Birth weight:Gene expression of STEAP2 (probeID
ILMN_1809101) in cerebellum in non-Alzheimer's disease samples:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
STEAP2 (probeID ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in
non-Alzheimer's disease samples:Gene expression of STEAP2 in normal prepouch
ileum:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID
ILMN_2344298) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum
in Alzheimer's disease cases |
|
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 |
89984409 |
2 |
GTPBP10 |
A |
G |
exonic |
nonsynonymous SNV |
GTPBP10:NM_033107:exon4:c.A329G:p.N110S |
RS42664 |
Gene expression of GTPBP10 [probe
234311_s_at] in lymphoblastoid cell lines:2 hour glucose:Fasting blood
glucose:Partial epilepsy:Advanced age-related macular degeneration
(geographic atrophy):Diabetic retinopathy in Type 2 diabetes mellitus |
|
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 |
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 |
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 |
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 |
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 |
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 |
98782750 |
2 |
KPNA7 |
C |
T |
exonic |
synonymous SNV |
KPNA7:NM_001145715:exon7:c.G936A:p.T312T |
RS10953283 |
HOMA-IR:Fasting insulin:Height:Years
of education |
|
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 |
99145845 |
1 |
FAM200A |
C |
T |
exonic |
synonymous SNV |
FAM200A:NM_145111:exon2:c.G186A:p.L62L |
RS10238965 |
Cystatin C in serum:Rheumatoid
arthritis:Height:Serum dehydroepiandrosterone sulphate (DHEAS) (males):Serum
dehydroepiandrosterone sulphate (DHEAS):Serum dehydroepiandrosterone sulphate
(DHEAS) (females):Gene expression of ZKSCAN5 (ENSG00000196652) in dendritic
cells treated with Mycobacterium tuberculosis:Adiponectin levels:Gene
expression of ZKSCAN5 (ENSG00000196652) in dendritic cells |
|
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 |
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 |
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 |
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 |
101844851 |
1 |
CUX1 |
A |
G |
exonic |
synonymous SNV |
CUX1:NM_001202543:exon18:c.A2307G:p.P769P,CUX1:NM_181552:exon18:c.A2274G:p.P758P |
|
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 |
101917521 |
2 |
CUX1 |
G |
A |
exonic |
nonsynonymous SNV |
CUX1:NM_001202544:exon15:c.G1342A:p.A448T,CUX1:NM_001202545:exon15:c.G1252A:p.A418T,CUX1:NM_001202546:exon15:c.G1273A:p.A425T,CUX1:NM_001913:exon16:c.G1390A:p.A464T,CUX1:NM_181500:exon16:c.G1384A:p.A462T |
RS803064 |
Triglycerides change with
statins:Body mass index (BMI):Urinary albumin-to-creatinine ratio |
|
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 |
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 |
107838464 |
2 |
NRCAM |
G |
T |
exonic |
synonymous SNV |
NRCAM:NM_001037132:exon11:c.C1287A:p.V429V,NRCAM:NM_001193583:exon13:c.C1230A:p.V410V,NRCAM:NM_001193584:exon13:c.C1230A:p.V410V,NRCAM:NM_005010:exon13:c.C1269A:p.V423V,NRCAM:NM_001193582:exon14:c.C1287A:p.V429V |
RS381318 |
Eye color:Hypertension (early onset
hypertension) |
|
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 |
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 |
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 |
129950740 |
1 |
CPA4 |
G |
T |
exonic |
nonsynonymous SNV |
CPA4:NM_001163446:exon8:c.G808T:p.G270C,CPA4:NM_016352:exon9:c.G907T:p.G303C |
RS2171492 |
Arthritis including
non-Rheumatoid:Triglycerides:Serum creatinine:Chronic kidney disease:Lp-PLA2
activity:Total cholesterol:Triglycerides:Gene expression of CPA5 in CD4+
lymphocytes:Gene expression of CPA5 in blood |
|
7 |
129962360 |
2 |
CPA4 |
A |
G |
exonic |
synonymous SNV |
CPA4:NM_001163446:exon10:c.A1011G:p.A337A,CPA4:NM_016352:exon11:c.A1110G:p.A370A |
|
7 |
131190696 |
1 |
PODXL |
T |
C |
exonic |
synonymous SNV |
PODXL:NM_005397:exon7:c.A1314G:p.A438A,PODXL:NM_001018111:exon8:c.A1410G:p.A470A |
RS6651125 |
Schizophrenia: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 |
134889141 |
1 |
WDR91 |
G |
A |
exonic |
nonsynonymous SNV |
WDR91:NM_014149:exon6:c.C770T:p.P257L |
RS292592 |
Gene expression of MGC5242 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Longstanding arthritis:Differential exon level expression of
WDR91 [probe 3074291] in peripheral blood mononuclear cells:Fasting blood
glucose:Triglycerides:Gene expression of TMEM140///C7orf49 in blood: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 |
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 |
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 |
148801658 |
2 |
ZNF425 |
C |
T |
exonic |
synonymous SNV |
ZNF425:NM_001001661:exon4:c.G1305A:p.Q435Q |
RS1137432 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression of ZNF425 (ENSG00000204947) in dendritic
cells treated with Mycobacterium tuberculosis:Gene expression of ZNF786 in
normal prepouch ileum:Gene expression of ZNF425 in normal prepouch ileum |
|
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 |
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 |
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 |
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 |
151874498 |
1 |
KMT2C |
C |
T |
exonic |
synonymous SNV |
KMT2C:NM_170606:exon38:c.G8040A:p.Q2680Q |
RS10252263 |
Chronic kidney disease:Partial
epilepsy:Aortic valve calcium:Obesity with early age of onset (age
>2):Salmonella-induced pyroptosis |
|
7 |
151949068 |
1 |
KMT2C |
C |
G |
exonic |
nonsynonymous SNV |
KMT2C:NM_170606:exon11:c.G1577C:p.R526P |
RS3735156 |
Chronic kidney disease:Body mass
index (BMI):Obesity with early age of onset (age >2) |
|
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 |
156469179 |
2 |
RNF32 |
C |
T |
exonic |
nonsynonymous SNV |
RNF32:NM_001184996:exon9:c.C919T:p.R307C,RNF32:NM_001184997:exon9:c.C919T:p.R307C,RNF32:NM_030936:exon9:c.C919T:p.R307C |
RS2302146 |
Gene expression of C7orf13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Refractive error:Gene expression of
C7orf13 in normal prepouch ileum |
|
7 |
156469190 |
2 |
RNF32 |
A |
G |
exonic |
synonymous SNV |
RNF32:NM_001184996:exon9:c.A930G:p.A310A,RNF32:NM_001184997:exon9:c.A930G:p.A310A,RNF32:NM_030936:exon9:c.A930G:p.A310A |
RS2302145 |
Gene expression of C7orf13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C7orf13 [probe
223630_at] in lymphoblastoid cell lines:Fasting blood glucose:Refractive
error |
|
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 |
|
7 |
158672619 |
1 |
WDR60 |
A |
G |
exonic |
nonsynonymous SNV |
WDR60:NM_001350914:exon5:c.A680G:p.Q227R,WDR60:NM_001350915:exon5:c.A301G:p.K101E,WDR60:NM_018051:exon5:c.A818G:p.Q273R |
RS2788478 |
Hip bone mineral density (BMD):Hip
bone mineral density (BMD):Spine bone mineral density (BMD):Low trauma
fracture:Schizophrenia:Premature ovarian failure:Gene expression of probeset
3034471 in osteoblasts:Gene expression of probeset 3034511 in lymphoblastoid
cell lines:Total cholesterol:LDL cholesterol:Total cholesterol:Height:Gene
expression of WDR60 in blood:Advanced age-related macular degeneration
(geographic atrophy):Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
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 |
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 |
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 |
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 |
9577940 |
2 |
TNKS |
T |
C |
exonic |
synonymous SNV |
TNKS:NM_003747:exon12:c.T1806C:p.G602G |
|
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 |
15838366 |
2 |
|
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 |
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 |
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 |
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 |
21955116 |
2 |
FAM160B2 |
C |
T |
exonic |
synonymous SNV |
FAM160B2:NM_022749:exon4:c.C387T:p.V129V |
|
8 |
21984650 |
2 |
HR |
A |
G |
exonic |
synonymous SNV |
HR:NM_005144:exon3:c.T1305C:p.F435F,HR:NM_018411:exon3:c.T1305C:p.F435F |
|
8 |
21984945 |
2 |
HR |
C |
T |
exonic |
nonsynonymous SNV |
HR:NM_005144:exon3:c.G1010A:p.G337D,HR:NM_018411:exon3:c.G1010A:p.G337D |
|
8 |
22105502 |
2 |
POLR3D |
T |
C |
exonic |
synonymous SNV |
POLR3D:NM_001722:exon4:c.T342C:p.A114A |
|
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 |
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 |
25203022 |
2 |
DOCK5 |
A |
G |
exonic |
synonymous SNV |
DOCK5:NM_024940:exon26:c.A2649G:p.T883T |
|
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 |
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 |
28304769 |
2 |
FBXO16 |
C |
T |
exonic |
nonsynonymous SNV |
FBXO16:NM_001258211:exon6:c.G726A:p.M242I,FBXO16:NM_172366:exon7:c.G762A:p.M254I |
|
8 |
29197672 |
2 |
DUSP4 |
A |
G |
exonic |
synonymous SNV |
DUSP4:NM_001394:exon2:c.T522C:p.S174S,DUSP4:NM_057158:exon3:c.T249C:p.S83S |
|
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 |
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 |
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 |
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 |
49021256 |
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 |
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 |
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 |
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 |
74917084 |
2 |
LY96 |
A |
G |
exonic |
nonsynonymous SNV |
LY96:NM_015364:exon2:c.A166G:p.R56G |
RS6472812 |
Total cholesterol:LDL
cholesterol:Rheumatoid arthritis |
|
8 |
75262798 |
2 |
GDAP1 |
G |
C |
exonic |
synonymous SNV |
GDAP1:NM_018972:exon1:c.G102C:p.S34S |
|
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 |
79610710 |
2 |
ZC2HC1A |
A |
G |
exonic |
synonymous SNV |
ZC2HC1A:NM_016010:exon7:c.A666G:p.L222L |
RS1054283 |
Gene expression of CGI-62 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 234357_at
in lymphoblastoid cell lines:Serum creatinine:Adiponectin levels:Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
98954012 |
2 |
MATN2 |
T |
C |
exonic |
synonymous SNV |
MATN2:NM_001317748:exon4:c.T720C:p.H240H,MATN2:NM_002380:exon4:c.T720C:p.H240H,MATN2:NM_030583:exon4:c.T720C:p.H240H |
|
8 |
98991221 |
2 |
MATN2 |
A |
G |
exonic |
nonsynonymous SNV |
MATN2:NM_001317748:exon6:c.A1066G:p.K356E,MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E |
|
8 |
100844758 |
1 |
VPS13B |
T |
C |
exonic |
synonymous SNV |
VPS13B:NM_017890:exon52:c.T9567C:p.S3189S,VPS13B:NM_152564:exon52:c.T9492C:p.S3164S |
|
8 |
101153024 |
2 |
FBXO43 |
G |
A |
exonic |
synonymous SNV |
FBXO43:NM_001029860:exon2:c.C1458T:p.I486I |
RS1460934 |
2 hour
glucose:Triglycerides:Height:Diastolic blood pressure (DBP):Gene expression
of SPAG1 in normal prepouch ileum:Birth weight |
|
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 |
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 |
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 |
120847188 |
1 |
DSCC1 |
T |
C |
exonic |
nonsynonymous SNV |
DSCC1:NM_024094:exon9:c.A1127G:p.H376R |
RS1055130 |
Differential exon level expression
of TAF2 [probe 3150697] in brain cortex:Autism:Gene expression of DEPDC6 in
blood:Sporadic Creutzfeldt-Jakob disease:Tourette's syndrome:Obesity with
early age of onset (age >2) |
|
8 |
121061879 |
2 |
DEPTOR |
G |
A |
exonic |
nonsynonymous SNV |
DEPTOR:NM_001283012:exon7:c.G863A:p.S288N,DEPTOR:NM_022783:exon9:c.G1166A:p.S389N |
RS4871827 |
Schizophrenia:Height:Obesity with
early age of onset (age >2) |
|
8 |
123966159 |
2 |
ZHX2 |
G |
C |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.G2409C:p.A803A |
RS3802265 |
Cystatin C in serum:Triglycerides |
|
8 |
124440174 |
1 |
WDYHV1 |
A |
G |
exonic |
nonsynonymous SNV |
WDYHV1:NM_018024:exon2:c.A94G:p.I32V |
RS6999234 |
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:Neuroblastoma (brain cancer):Gene expression of C8orf32
[probe ILMN_574] in osteoblasts treated with PGE2:Gene expression of C8orf32
[probe ILMN_574] in untreated osteoblasts:Gene expression of C8orf32 [probe
ILMN_574] in osteoblasts treated with dexamethasone:Rheumatoid arthritis:Gene
expression of WDYHV1 in blood:Adiponectin levels |
|
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 |
124449466 |
1 |
WDYHV1 |
C |
T |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon5:c.C220T:p.R74C,WDYHV1:NM_018024:exon5:c.C400T:p.R134C,WDYHV1:NM_001283027:exon6:c.C196T:p.R66C |
RS3824250 |
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: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:Neuroblastoma (brain cancer):Rheumatoid arthritis:Gene
expression of WDYHV1 in blood:Adiponectin levels |
|
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 |
141551407 |
1 |
AGO2 |
G |
A |
exonic |
synonymous SNV |
AGO2:NM_001164623:exon15:c.C1890T:p.R630R,AGO2:NM_012154:exon15:c.C1890T:p.R630R |
|
8 |
141559358 |
1 |
AGO2 |
G |
A |
exonic |
synonymous SNV |
AGO2:NM_001164623:exon12:c.C1443T:p.A481A,AGO2:NM_012154:exon12:c.C1443T:p.A481A |
RS2292781 |
LDL cholesterol change with
statins:HDL cholesterol:Hypertension (early onset hypertension):Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
8 |
141566311 |
1 |
AGO2 |
C |
T |
exonic |
synonymous SNV |
AGO2:NM_001164623:exon9:c.G1101A:p.A367A,AGO2:NM_012154:exon9:c.G1101A:p.A367A |
RS2271738 |
Differential exon level expression
of EIF2C2 [probe 3156243] in brain cortex:Bipolar disorder:Bipolar disorder
and schizophrenia:Advanced age-related macular degeneration (geographic
atrophy):Hypertension (early onset hypertension):Advanced age-related macular
degeneration |
|
8 |
141568622 |
1 |
AGO2 |
G |
A |
exonic |
synonymous SNV |
AGO2:NM_001164623:exon7:c.C840T:p.R280R,AGO2:NM_012154:exon7:c.C840T:p.R280R |
RS2292778 |
Simpson-Angus Scale:LDL cholesterol
change with statins:Total cholesterol change with statins:Bipolar
disorder:Height:Systolic blood pressure (SBP):Advanced age-related macular
degeneration:Infant head circumference |
|
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 |
144649601 |
2 |
MROH6 |
A |
G |
exonic |
synonymous SNV |
MROH6:NM_001100878:exon14:c.T1968C:p.A656A |
|
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 |
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 |
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 |
144776109 |
2 |
ZNF707 |
A |
G |
exonic |
synonymous SNV |
ZNF707:NM_001288808:exon4:c.A417G:p.S139S,ZNF707:NM_001288809:exon4:c.A417G:p.S139S,ZNF707:NM_001100599:exon5:c.A525G:p.S175S,ZNF707:NM_001100598:exon6:c.A525G:p.S175S,ZNF707:NM_001288806:exon6:c.A525G:p.S175S,ZNF707:NM_001288807:exon6:c.A306G:p.S102S,ZNF707:NM_173831:exon7:c.A525G:p.S175S,ZNF707:NM_001288805:exon8:c.A525G:p.S175S |
|
8 |
144809804 |
2 |
FAM83H |
G |
A |
exonic |
synonymous SNV |
FAM83H:NM_198488:exon5:c.C1827T:p.Y609Y |
|
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 |
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 |
144940290 |
1 |
EPPK1 |
C |
G |
exonic |
nonsynonymous SNV |
EPPK1:NM_031308:exon2:c.G7132C:p.D2378H |
|
8 |
144940300 |
1 |
EPPK1 |
G |
A |
exonic |
synonymous SNV |
EPPK1:NM_031308:exon2:c.C7122T:p.R2374R |
|
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 |
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 |
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 |
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 |
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 |
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 |
146115367 |
2 |
ZNF250 |
A |
G |
exonic |
synonymous SNV |
ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G |
|
8 |
148631000 |
1 |
|
9 |
17011 |
2 |
WASHC1 |
T |
C |
exonic |
synonymous SNV |
WASHC1:NM_182905:exon7:c.A837G:p.P279P |
|
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 |
5968416 |
2 |
KIAA2026 |
A |
G |
exonic |
synonymous SNV |
KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L |
RS3739649 |
Height:Birth weight |
|
9 |
13112116 |
2 |
MPDZ |
A |
G |
exonic |
synonymous SNV |
MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I,MPDZ:NM_001330637:exon43:c.T5631C:p.I1877I |
|
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 |
17394996 |
2 |
CNTLN |
T |
C |
exonic |
synonymous SNV |
CNTLN:NM_017738:exon15:c.T2544C:p.H848H |
RS3739489 |
Fasting blood glucose |
|
9 |
20866974 |
2 |
FOCAD |
C |
G |
exonic |
nonsynonymous SNV |
FOCAD:NM_017794:exon20:c.C2153G:p.T718S |
|
9 |
26116193 |
2 |
LOC100506422 |
T |
C |
exonic |
synonymous SNV |
LOC100506422:NM_001004352:exon6:c.T369C:p.I123I |
|
9 |
26886129 |
1 |
CAAP1 |
C |
T |
exonic |
nonsynonymous SNV |
CAAP1:NM_001167575:exon3:c.G127A:p.E43K,CAAP1:NM_024828:exon3:c.G562A:p.E188K |
|
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 |
34372783 |
2 |
KIAA1161 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
9 |
34372873 |
2 |
KIAA1161 |
C |
G |
exonic |
unknown |
UNKNOWN |
|
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 |
35546735 |
2 |
RUSC2 |
A |
G |
exonic |
nonsynonymous SNV |
RUSC2:NM_001135999:exon2:c.A217G:p.T73A,RUSC2:NM_014806:exon2:c.A217G:p.T73A |
|
9 |
35606884 |
2 |
TESK1 |
G |
A |
exonic |
nonsynonymous SNV |
TESK1:NM_001318230:exon4:c.G44A:p.C15Y |
|
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 |
37441808 |
2 |
ZBTB5 |
A |
G |
exonic |
synonymous SNV |
ZBTB5:NM_014872:exon2:c.T741C:p.D247D |
|
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 |
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 |
43885012 |
2 |
CNTNAP3B |
A |
G |
exonic |
nonsynonymous SNV |
CNTNAP3B:NM_001201380:exon15:c.A2305G:p.T769A |
|
9 |
49022700 |
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 |
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 |
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 |
86495335 |
1 |
KIF27 |
C |
T |
exonic |
synonymous SNV |
KIF27:NM_001271928:exon11:c.G2520A:p.E840E,KIF27:NM_017576:exon11:c.G2520A:p.E840E |
|
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 |
88694179 |
1 |
GOLM1 |
G |
T |
exonic |
synonymous SNV |
GOLM1:NM_016548:exon2:c.C57A:p.A19A,GOLM1:NM_177937:exon2:c.C57A:p.A19A |
|
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 |
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 |
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 |
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 |
98209594 |
1 |
PTCH1 |
G |
A |
exonic |
nonsynonymous SNV |
PTCH1:NM_000264:exon23:c.C3944T:p.P1315L,PTCH1:NM_001083602:exon23:c.C3746T:p.P1249L,PTCH1:NM_001083603:exon23:c.C3941T:p.P1314L,PTCH1:NM_001083604:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083605:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083606:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083607:exon23:c.C3491T:p.P1164L |
RS357564 |
Height |
|
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 |
100971348 |
1 |
TBC1D2 |
T |
C |
exonic |
synonymous SNV |
TBC1D2:NM_001267572:exon3:c.A372G:p.A124A,TBC1D2:NM_001267571:exon9:c.A1752G:p.A584A,TBC1D2:NM_018421:exon9:c.A1752G:p.A584A |
|
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 |
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 |
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 |
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 |
115580008 |
2 |
SNX30 |
G |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon3:c.G372C:p.L124L |
RS10117709 |
LDL cholesterol:Parkinson's
disease:Adiponectin levels:Obesity with early age of onset (age >2):Mitral
annular calcium |
|
9 |
115600848 |
2 |
SNX30 |
T |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon6:c.T885C:p.A295A |
|
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 |
116356516 |
2 |
RGS3 |
A |
G |
exonic |
nonsynonymous SNV |
RGS3:NM_144489:exon1:c.A317G:p.Y106C |
RS12341266 |
High-grade glioma:Partial
epilepsy:Asthma:Glioma:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Hypertrophic cardiomyopathy |
|
9 |
116356529 |
2 |
RGS3 |
C |
G |
exonic |
nonsynonymous SNV |
RGS3:NM_144489:exon1:c.C330G:p.C110W |
|
9 |
117103973 |
1 |
AKNA |
A |
G |
exonic |
nonsynonymous SNV |
AKNA:NM_001317952:exon20:c.T3550C:p.S1184P,AKNA:NM_001317950:exon21:c.T3907C:p.S1303P,AKNA:NM_030767:exon21:c.T3907C:p.S1303P |
RS2250242 |
Differential splicing of AKNA
[probeset 3221949] in lymphoblastoid cell lines:LDL cholesterol:Alzheimer's
disease:HDL cholesterol:Total cholesterol:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Gene expression of AKNA in blood:Gene expression
of ORM1 in blood:Gene expression of ORM2 in blood:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Age at death with kuru
exposure:Hypertension (early onset hypertension) |
|
9 |
117124731 |
1 |
AKNA |
G |
A |
exonic |
nonsynonymous SNV |
AKNA:NM_001317952:exon7:c.C1514T:p.P505L,AKNA:NM_001317950:exon8:c.C1871T:p.P624L,AKNA:NM_030767:exon8:c.C1871T:p.P624L |
RS3748176 |
Differential splicing of AKNA
[probeset 3221949] in lymphoblastoid cell lines:Fasting blood glucose:Serum
creatinine:HDL cholesterol:Total cholesterol:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Systolic blood pressure (SBP) |
|
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 |
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 |
123583192 |
1 |
PSMD5 |
A |
G |
exonic |
synonymous SNV |
PSMD5:NM_001270427:exon8:c.T1053C:p.D351D,PSMD5:NM_005047:exon9:c.T1182C:p.D394D |
RS1060817 |
Gene expression of EGFL5 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Rheumatoid
arthritis:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe
cg09419670] in Frontal cortex:Methylation levels at chr9:122644335-122644385
[hg18 coord, probe cg21717724] in Caudal pons:Methylation levels at
chr9:122645487-122645537 [hg18 coord, probe cg09419670] in
Cerebellum:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe
cg21717724] in Cerebellum:Methylation levels at chr9:122645487-122645537
[hg18 coord, probe cg09419670] in Temporal cortex:Methylation levels at
chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Caudal
pons:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe
cg21717724] in Temporal cortex:Methylation levels at chr9:122644335-122644385
[hg18 coord, probe cg21717724] in Frontal cortex:Height:Methylation QTL for
probe cg09419670:Urinary albumin-to-creatinine ratio:Systolic blood pressure
(SBP):Bipolar disorder:Gene expression of PSMD5 in normal prepouch ileum:Gene
expression change of PSMD5 (ENSG00000095261) in dendritic cells after
treatment with Mycobacterium tuberculosis:Gene expression of PSMD5
(ENSG00000095261) in dendritic cells |
|
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 |
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 |
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 |
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 |
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 |
131418828 |
2 |
WDR34 |
A |
C |
exonic |
nonsynonymous SNV |
WDR34:NM_052844:exon1:c.T178G:p.W60G |
|
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 |
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 |
131846957 |
1 |
DOLPP1 |
T |
C |
exonic |
synonymous SNV |
DOLPP1:NM_001135917:exon2:c.T87C:p.S29S,DOLPP1:NM_020438:exon2:c.T87C:p.S29S |
RS11541836 |
Adiponectin levels:Years of
education:College completion |
|
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 |
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 |
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 |
132686186 |
2 |
FNBP1 |
A |
G |
exonic |
synonymous SNV |
FNBP1:NM_015033:exon10:c.T1107C:p.H369H |
|
9 |
132872686 |
2 |
GPR107 |
A |
G |
exonic |
synonymous SNV |
GPR107:NM_001136557:exon15:c.A1344G:p.L448L,GPR107:NM_001136558:exon15:c.A1344G:p.L448L |
RS4837460 |
Partial epilepsy |
|
9 |
132988709 |
1 |
NCS1 |
T |
G |
exonic |
synonymous SNV |
NCS1:NM_001128826:exon7:c.T462G:p.G154G,NCS1:NM_014286:exon7:c.T516G:p.G172G |
RS2277200 |
Infant head circumference |
|
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 |
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 |
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 |
134385436 |
2 |
POMT1 |
A |
G |
exonic |
nonsynonymous SNV |
POMT1:NM_007171:exon8:c.A752G:p.Q251R |
RS2296949 |
Spine bone mineral density
(BMD):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:Breast cancer:Gene
expression of POMT1 (probeID ILMN_2305721) in cerebellum in Progressive
Supranuclear Palsy cases: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:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in
non-Alzheimer's disease samples:Gene expression of POMT1 (probeID
ILMN_2305721) in temporal cortex in Progressive Supranuclear Palsy cases:Gene
expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's
disease cases:Years of education:Adiponectin levels:Gene expression of POMT1
(probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases |
|
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 |
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 |
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 |
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 |
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 |
138377915 |
1 |
PPP1R26 |
G |
A |
exonic |
nonsynonymous SNV |
PPP1R26:NM_014811:exon4:c.G1559A:p.R520H |
RS3748195 |
Chronic kidney disease |
|
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 |
139222174 |
2 |
GPSM1 |
T |
C |
exonic |
nonsynonymous SNV |
GPSM1:NM_001145638:exon1:c.T23C:p.V8A,GPSM1:NM_015597:exon1:c.T23C:p.V8A |
|
9 |
139616742 |
2 |
FAM69B |
A |
G |
exonic |
nonsynonymous SNV |
FAM69B:NM_152421:exon4:c.A472G:p.S158G |
RS945384 |
Type 2 diabetes:Triglycerides:Type
2 diabetes:Alzheimer's disease:Diastolic blood pressure (DBP):Comorbid
depressive syndrome and alcohol dependence:Mitral annular calcium |
|
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 |
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 |
139739643 |
2 |
C9orf172 |
T |
C |
exonic |
synonymous SNV |
C9orf172:NM_001080482:exon1:c.T777C:p.P259P |
|
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 |
139752899 |
2 |
MAMDC4 |
T |
G |
exonic |
nonsynonymous SNV |
MAMDC4:NM_206920:exon22:c.T2722G:p.W908G |
|
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 |
139906359 |
1 |
ABCA2 |
G |
A |
exonic |
synonymous SNV |
ABCA2:NM_001606:exon35:c.C5472T:p.H1824H,ABCA2:NM_212533:exon35:c.C5562T:p.H1854H |
RS2271862 |
LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Birth weight |
|
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 |
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 |
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 |
140100317 |
1 |
NDOR1 |
C |
G |
exonic |
nonsynonymous SNV |
NDOR1:NM_001144026:exon1:c.C88G:p.R30G,NDOR1:NM_001144027:exon1:c.C88G:p.R30G,NDOR1:NM_001144028:exon1:c.C88G:p.R30G,NDOR1:NM_014434:exon1:c.C88G:p.R30G |
|
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 |
3150898 |
2 |
PFKP |
C |
T |
exonic |
synonymous SNV |
PFKP:NM_001323070:exon4:c.C228T:p.V76V,PFKP:NM_001323074:exon4:c.C228T:p.V76V,PFKP:NM_001323073:exon5:c.C228T:p.V76V,PFKP:NM_001323067:exon9:c.C795T:p.V265V,PFKP:NM_001323068:exon9:c.C876T:p.V292V,PFKP:NM_001323069:exon9:c.C369T:p.V123V,PFKP:NM_001345944:exon9:c.C762T:p.V254V,PFKP:NM_002627:exon9:c.C876T:p.V292V,PFKP:NM_001323071:exon10:c.C762T:p.V254V,PFKP:NM_001323072:exon10:c.C762T:p.V254V,PFKP:NM_001242339:exon11:c.C852T:p.V284V |
|
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 |
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 |
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 |
5495218 |
2 |
NET1 |
T |
C |
exonic |
synonymous SNV |
NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y |
RS4567355 |
Abnormal Involuntary Movement Scale |
|
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 |
5781969 |
1 |
FAM208B |
A |
T |
exonic |
synonymous SNV |
FAM208B:NM_001321785:exon13:c.A1593T:p.T531T,FAM208B:NM_017782:exon13:c.A1836T:p.T612T,FAM208B:NM_001321783:exon14:c.A1836T:p.T612T,FAM208B:NM_001321784:exon14:c.A1836T:p.T612T |
RS2797486 |
Triglycerides:2 hour
glucose:Urinary albumin-to-creatinine ratio:Adiponectin levels:College
completion |
|
10 |
5788608 |
1 |
FAM208B |
G |
C |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon15:c.G2981C:p.R994P,FAM208B:NM_017782:exon15:c.G3224C:p.R1075P,FAM208B:NM_001321783:exon16:c.G3224C:p.R1075P,FAM208B:NM_001321784:exon16:c.G3224C:p.R1075P |
RS2797491 |
Triglycerides:2 hour glucose:Gene
expression of NAPRT1 in peripheral blood monocytes:Urinary
albumin-to-creatinine ratio:College completion:Adiponectin levels |
|
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 |
5804531 |
1 |
FAM208B |
G |
A |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon20:c.G6968A:p.S2323N,FAM208B:NM_017782:exon20:c.G7211A:p.S2404N,FAM208B:NM_001321783:exon21:c.G7211A:p.S2404N,FAM208B:NM_001321784:exon21:c.G7211A:p.S2404N |
RS2797501 |
Arthritis including
non-Rheumatoid:Differential exon level expression of C10orf18 [probe 3233383]
in peripheral blood mononuclear cells:Differential exon level expression of
C10orf18 [probe 3233383] in brain cortex:2 hour glucose:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Transmission distortion:Years of
education |
|
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 |
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 |
12111090 |
2 |
DHTKD1 |
T |
C |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon1:c.T58C:p.F20L |
|
10 |
12131081 |
1 |
DHTKD1 |
T |
G |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon5:c.T814G:p.Y272D |
RS3740015 |
HDL
cholesterol:Schizophrenia:Asthma:Height:Gene expression of SEC61A2 in blood |
|
10 |
12143105 |
1 |
DHTKD1 |
C |
G |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon10:c.C1821G:p.I607M |
|
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 |
12191933 |
1 |
SEC61A2 |
C |
T |
exonic |
synonymous SNV |
SEC61A2:NM_001142628:exon5:c.C369T:p.A123A,SEC61A2:NM_001142627:exon6:c.C435T:p.A145A,SEC61A2:NM_018144:exon6:c.C435T:p.A145A |
RS10466280 |
Gene expression of SEC61A2 [probe
219499_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Longstanding arthritis:Triglycerides:2 hour glucose:Gene
expression of SEC61A2 in blood:Advanced age-related macular degeneration
(geographic atrophy):Gene expression change of DHTKD1 (ENSG00000181192) in
dendritic cells after treatment with Mycobacterium tuberculosis:Coronary
artery disease (CAD):Gene expression of SEC61A2 (probeID ILMN_1779381) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
SEC61A2 (probeID ILMN_1779381) in cerebellum in Alzheimer's disease cases and
controls |
|
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 |
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 |
14944416 |
1 |
SUV39H2 |
A |
G |
exonic |
nonsynonymous SNV |
SUV39H2:NM_024670:exon5:c.A958G:p.I320V,SUV39H2:NM_001193424:exon6:c.A1138G:p.I380V,SUV39H2:NM_001193425:exon6:c.A958G:p.I320V,SUV39H2:NM_001193426:exon6:c.A598G:p.I200V,SUV39H2:NM_001193427:exon6:c.A418G:p.I140V |
|
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 |
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 |
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 |
28378758 |
2 |
MPP7 |
T |
C |
exonic |
nonsynonymous SNV |
MPP7:NM_001318170:exon12:c.A965G:p.K322R,MPP7:NM_173496:exon14:c.A965G:p.K322R |
RS2997211 |
Rheumatoid arthritis:Longstanding
arthritis:HOMA-IR:PROP taste detection threshold:Resistance to kuru in aged
women despite likely exposure:Infant head circumference |
|
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 |
32974969 |
2 |
CCDC7 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC7:NM_001321115:exon23:c.A2194G:p.I732V |
RS1762526 |
Salmonella-induced pyroptosis |
|
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 |
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 |
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 |
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 |
43315814 |
1 |
BMS1 |
A |
G |
exonic |
nonsynonymous SNV |
BMS1:NM_014753:exon16:c.A2711G:p.H904R |
|
10 |
43315848 |
1 |
BMS1 |
T |
C |
exonic |
synonymous SNV |
BMS1:NM_014753:exon16:c.T2745C:p.S915S |
|
10 |
43315863 |
1 |
BMS1 |
C |
A |
exonic |
synonymous SNV |
BMS1:NM_014753:exon16:c.C2760A:p.G920G |
|
10 |
43316120 |
1 |
BMS1 |
C |
T |
exonic |
synonymous SNV |
BMS1:NM_014753:exon17:c.C2934T:p.C978C |
|
10 |
50723684 |
2 |
ERCC6;PGBD3 |
G |
A |
exonic |
synonymous SNV |
PGBD3:NM_170753:exon2:c.C1477T:p.L493L,ERCC6:NM_001277058:exon6:c.C2881T:p.L961L,ERCC6:NM_001277059:exon6:c.C2881T:p.L961L |
RS4253073 |
Schizophrenia:LDL cholesterol
change with statins:Triglycerides change with statins:Mitral annular calcium |
|
10 |
50724016 |
2 |
ERCC6;PGBD3 |
C |
T |
exonic |
nonsynonymous SNV |
PGBD3:NM_170753:exon2:c.G1145A:p.R382K,ERCC6:NM_001277058:exon6:c.G2549A:p.R850K,ERCC6:NM_001277059:exon6:c.G2549A:p.R850K |
|
10 |
50960209 |
2 |
OGDHL |
G |
A |
exonic |
synonymous SNV |
OGDHL:NM_001143996:exon4:c.C393T:p.L131L,OGDHL:NM_001347820:exon4:c.C393T:p.L131L,OGDHL:NM_001347819:exon5:c.C564T:p.L188L,OGDHL:NM_001347823:exon5:c.C564T:p.L188L,OGDHL:NM_001347824:exon5:c.C564T:p.L188L,OGDHL:NM_018245:exon5:c.C564T:p.L188L |
RS1258184 |
Total cholesterol:HDL
cholesterol:Serum creatinine:Cystatin C in serum:HDL cholesterol:Birth
weight:Obesity with early age of onset (age >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 |
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 |
51363169 |
2 |
PARG |
T |
C |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.A579G:p.E193E,PARG:NM_001303486:exon3:c.A657G:p.E219E,PARG:NM_001324381:exon3:c.A657G:p.E219E,PARG:NM_003631:exon3:c.A903G:p.E301E |
|
10 |
51363249 |
1 |
PARG |
A |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.T499C:p.S167P,PARG:NM_001303486:exon3:c.T577C:p.S193P,PARG:NM_001324381:exon3:c.T577C:p.S193P,PARG:NM_003631:exon3:c.T823C:p.S275P |
|
10 |
51363294 |
1 |
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 |
1 |
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 |
51363758 |
2 |
PARG |
A |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303486:exon3:c.T68G:p.I23R,PARG:NM_001324381:exon3:c.T68G:p.I23R,PARG:NM_003631:exon3:c.T314G:p.I105R |
|
10 |
51364733 |
2 |
PARG |
C |
T |
exonic |
nonsynonymous SNV |
PARG:NM_001303486:exon2:c.G10A:p.E4K,PARG:NM_001324381:exon2:c.G10A:p.E4K,PARG:NM_003631:exon2:c.G256A:p.E86K |
|
10 |
51370889 |
1 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303489:exon1:c.A178G:p.R60G,PARG:NM_003631:exon1:c.A182G:p.Q61R |
|
10 |
51370975 |
2 |
PARG |
C |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303489:exon1:c.G92C:p.R31P |
|
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 |
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 |
59956347 |
1 |
IPMK |
A |
G |
exonic |
synonymous SNV |
IPMK:NM_152230:exon6:c.T741C:p.N247N |
|
10 |
59956390 |
1 |
IPMK |
A |
G |
exonic |
nonsynonymous SNV |
IPMK:NM_152230:exon6:c.T698C:p.I233T |
|
10 |
59976012 |
1 |
IPMK |
A |
G |
exonic |
nonsynonymous SNV |
IPMK:NM_152230:exon4:c.T440C:p.I147T |
|
10 |
60577393 |
2 |
BICC1 |
T |
C |
exonic |
synonymous SNV |
BICC1:NM_001080512:exon19:c.T2605C:p.L869L |
RS4344442 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Chronic kidney
disease:Salmonella-induced pyroptosis:Adiponectin levels |
|
10 |
60588553 |
2 |
BICC1 |
T |
C |
exonic |
nonsynonymous SNV |
BICC1:NM_001080512:exon21:c.T2827C:p.S943P |
RS4948550 |
Allergic rhinitis:Atopy:Adiponectin
levels:Advanced age-related macular degeneration (geographic atrophy) |
|
10 |
61552774 |
1 |
CCDC6 |
C |
T |
exonic |
synonymous SNV |
CCDC6:NM_005436:exon9:c.G1326A:p.P442P |
|
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 |
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 |
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 |
70227964 |
1 |
DNA2 |
C |
T |
exonic |
synonymous SNV |
DNA2:NM_001080449:exon3:c.G357A:p.L119L |
|
10 |
70696713 |
2 |
DDX50 |
C |
T |
exonic |
synonymous SNV |
DDX50:NM_024045:exon12:c.C1617T:p.Y539Y |
RS5030895 |
Aortic valve calcium |
|
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 |
71103597 |
2 |
HK1 |
C |
G |
exonic |
synonymous SNV |
HK1:NM_000188:exon2:c.C78G:p.L26L,HK1:NM_001322367:exon2:c.C78G:p.L26L,HK1:NM_033496:exon2:c.C75G:p.L25L,HK1:NM_001322364:exon4:c.C90G:p.L30L,HK1:NM_033497:exon5:c.C90G:p.L30L,HK1:NM_033498:exon5:c.C90G:p.L30L,HK1:NM_033500:exon6:c.C42G:p.L14L,HK1:NM_001322365:exon7:c.C183G:p.L61L |
RS1133189 |
LDL cholesterol:Height:Hemoglobin
(Hb):Obesity with early age of onset (age >2) |
|
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 |
71906150 |
1 |
TYSND1 |
T |
C |
exonic |
nonsynonymous SNV |
TYSND1:NM_001040273:exon1:c.A193G:p.T65A,TYSND1:NM_173555:exon1:c.A193G:p.T65A |
|
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 |
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 |
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 |
75673101 |
2 |
PLAU |
T |
C |
exonic |
nonsynonymous SNV |
PLAU:NM_001145031:exon5:c.T371C:p.L124P,PLAU:NM_001319191:exon5:c.T164C:p.L55P,PLAU:NM_002658:exon6:c.T422C:p.L141P |
RS2227564 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:LDL cholesterol:HDL cholesterol:Methylation
levels at chr10:75242176-75242226 [hg18 coord, probe cg16540259] in
Cerebellum:Triglycerides:Gene expression of PLAU///C10orf55 in blood:Gene
expression of AC022400.9///CAMK2G in blood:Gene expression of
KIAA0913///NDST2 in blood:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Venous thrombosis:Bipolar disorder:Years of education:Coronary
artery disease (CAD):Gene expression change of PLAU (ENSG00000122861) in
dendritic cells after treatment with Mycobacterium tuberculosis:Infant head
circumference:College completion:Inflammatory bowel disease |
|
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 |
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 |
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 |
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 |
90771829 |
2 |
FAS |
T |
C |
exonic |
synonymous SNV |
FAS:NM_152871:exon6:c.T579C:p.T193T,FAS:NM_000043:exon7:c.T642C:p.T214T,FAS:NM_152872:exon7:c.T642C:p.T214T |
RS2234978 |
Arthritis including
non-Rheumatoid:Gene expression of ACTA2 [probe 3299504] in peripheral blood
mononuclear cells:Gene expression of ACTA2 in peripheral blood monocytes:Gene
expression of FAS in peripheral blood monocytes:Selective immunoglobulin A
deficiency (IgAD):Neuroblastoma (brain cancer):Gene expression of
AL157394.15///ACTA2///RP11-399O19.3 in blood:Gene expression of FAS (probeID
ILMN_2319077) in temporal cortex in Alzheimer's disease cases:Gene expression
of FAS in normal prepouch ileum:Gene expression of ACTA2 (probeID
ILMN_430338) in whole blood:Gene expression of FAS (probeID ILMN_2319077) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
FAS (probeID ILMN_1808132) in temporal cortex in Alzheimer's disease cases
and controls:Years of education |
|
10 |
91162497 |
2 |
IFIT1 |
A |
G |
exonic |
synonymous SNV |
IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K |
RS303211 |
Longstanding arthritis:Waist
circumference:Body mass index (BMI):Tourette's syndrome:Primary
rhegmatogenous retinal detachment |
|
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 |
93170250 |
2 |
HECTD2 |
C |
G |
exonic |
nonsynonymous SNV |
HECTD2:NM_001284274:exon1:c.C55G:p.P19A,HECTD2:NM_173497:exon1:c.C55G:p.P19A,HECTD2:NM_182765:exon1:c.C55G:p.P19A |
|
10 |
95072906 |
2 |
MYOF |
T |
C |
exonic |
synonymous SNV |
MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R |
RS787666 |
Bipolar disorder |
|
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 |
97447373 |
2 |
TCTN3 |
A |
T |
exonic |
synonymous SNV |
TCTN3:NM_015631:exon4:c.T603A:p.T201T |
|
10 |
98386558 |
2 |
PIK3AP1 |
G |
A |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L |
|
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 |
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 |
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 |
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 |
101544447 |
2 |
ABCC2 |
A |
T |
exonic |
nonsynonymous SNV |
ABCC2:NM_000392:exon2:c.A116T:p.Y39F |
|
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 |
105361816 |
2 |
SH3PXD2A |
T |
G |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I |
|
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 |
105659826 |
2 |
STN1 |
T |
C |
exonic |
nonsynonymous SNV |
STN1:NM_024928:exon5:c.A451G:p.T151A |
RS2487999 |
Spine bone mineral density
(BMD):Differential exon level expression of OBFC1 [probe 3305032] in brain
cortex:HOMA-B:Fasting insulin:HOMA-IR:Leukocyte telomere length:HDL
cholesterol:Height:Gene expression of OBFC1 [probe ILMN_29568] in osteoblasts
treated with bmp:Relative telomere length:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Bipolar
disorder:College completion:Parkinson's disease:Coronary artery disease (CAD) |
|
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 |
112266822 |
2 |
DUSP5 |
G |
A |
exonic |
nonsynonymous SNV |
DUSP5:NM_004419:exon3:c.G658A:p.A220T |
|
10 |
112266823 |
2 |
DUSP5 |
C |
T |
exonic |
nonsynonymous SNV |
DUSP5:NM_004419:exon3:c.C659T:p.A220V |
|
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 |
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 |
116307504 |
2 |
ABLIM1 |
A |
G |
exonic |
synonymous SNV |
ABLIM1:NM_001003407:exon5:c.T525C:p.N175N,ABLIM1:NM_001003408:exon5:c.T525C:p.N175N,ABLIM1:NM_001322882:exon5:c.T525C:p.N175N,ABLIM1:NM_001322883:exon5:c.T525C:p.N175N,ABLIM1:NM_001322884:exon5:c.T474C:p.N158N,ABLIM1:NM_001322885:exon5:c.T474C:p.N158N,ABLIM1:NM_001322886:exon5:c.T474C:p.N158N,ABLIM1:NM_001322887:exon5:c.T525C:p.N175N,ABLIM1:NM_002313:exon5:c.T705C:p.N235N |
RS2247528 |
HDL cholesterol:Body mass index
(BMI):Refractive error |
|
10 |
116335246 |
2 |
ABLIM1 |
G |
A |
exonic |
synonymous SNV |
ABLIM1:NM_001003407:exon3:c.C312T:p.F104F,ABLIM1:NM_001003408:exon3:c.C312T:p.F104F,ABLIM1:NM_001322882:exon3:c.C312T:p.F104F,ABLIM1:NM_001322883:exon3:c.C312T:p.F104F,ABLIM1:NM_001322884:exon3:c.C261T:p.F87F,ABLIM1:NM_001322885:exon3:c.C261T:p.F87F,ABLIM1:NM_001322886:exon3:c.C261T:p.F87F,ABLIM1:NM_001322887:exon3:c.C312T:p.F104F,ABLIM1:NM_002313:exon3:c.C492T:p.F164F |
RS985273 |
Comorbid depressive syndrome and
alcohol dependence |
|
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 |
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 |
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 |
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 |
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 |
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 |
135233541 |
2 |
MTG1 |
A |
G |
exonic |
nonsynonymous SNV |
MTG1:NM_138384:exon11:c.A877G:p.I293V |
|
10 |
138897130 |
2 |
|
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 |
314207 |
2 |
IFITM1 |
C |
G |
exonic |
nonsynonymous SNV |
IFITM1:NM_003641:exon1:c.C37G:p.P13A |
|
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 |
406473 |
2 |
SIGIRR |
A |
C |
exonic |
synonymous SNV |
SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P |
RS3087588 |
Gene expression of SIGIRR
(ENSG00000185187) in dendritic cells treated with Mycobacterium tuberculosis |
|
11 |
406483 |
2 |
SIGIRR |
T |
C |
exonic |
nonsynonymous SNV |
SIGIRR:NM_001135053:exon9:c.A935G:p.Q312R,SIGIRR:NM_001135054:exon9:c.A935G:p.Q312R,SIGIRR:NM_021805:exon9:c.A935G:p.Q312R |
RS3210908 |
Gene expression of SIGIRR [probe
52940_at] in lymphoblastoid cell lines:HDL cholesterol change with
statins:Postoperative nausea and vomiting:Gene expression of SIGIRR in
blood:College completion |
|
11 |
556521 |
2 |
LMNTD2 |
C |
G |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon9:c.G1044C:p.P348P |
|
11 |
557989 |
2 |
LMNTD2 |
C |
T |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q |
|
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 |
824789 |
2 |
PNPLA2 |
T |
C |
exonic |
nonsynonymous SNV |
PNPLA2:NM_020376:exon10:c.T1442C:p.L481P |
|
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 |
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 |
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 |
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 |
6411935 |
2 |
SMPD1 |
T |
C |
exonic |
nonsynonymous SNV |
SMPD1:NM_000543:exon1:c.T107C:p.V36A,SMPD1:NM_001007593:exon1:c.T107C:p.V36A,SMPD1:NM_001318087:exon1:c.T107C:p.V36A |
|
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 |
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 |
7687715 |
2 |
CYB5R2 |
T |
C |
exonic |
nonsynonymous SNV |
CYB5R2:NM_001302826:exon8:c.A625G:p.N209D,CYB5R2:NM_016229:exon8:c.A625G:p.N209D |
RS12801394 |
HDL cholesterol:Chronic kidney
disease:Microalbuminuria:Gene expression of PPFIBP2 in blood:Gene expression
of CYB5R2 in blood:Advanced age-related macular degeneration (geographic
atrophy) |
|
11 |
9406349 |
2 |
IPO7 |
T |
C |
exonic |
synonymous SNV |
IPO7:NM_006391:exon1:c.T39C:p.T13T |
|
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 |
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 |
11986061 |
2 |
DKK3 |
T |
C |
exonic |
nonsynonymous SNV |
DKK3:NM_001018057:exon7:c.A1003G:p.R335G,DKK3:NM_001330220:exon8:c.A1045G:p.R349G,DKK3:NM_013253:exon8:c.A1003G:p.R335G,DKK3:NM_015881:exon8:c.A1003G:p.R335G |
RS3206824 |
Body mass index (BMI):Adolescent
idiopathic scoliosis:Infant head circumference |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
46890165 |
2 |
LRP4 |
C |
T |
exonic |
nonsynonymous SNV |
LRP4:NM_002334:exon33:c.G4937A:p.R1646Q |
RS3816614 |
HDL cholesterol:Stroke (all
types):HDL cholesterol:Methylation levels at chr11:46914334-46914384 [hg18
coord, probe cg26198807] in Temporal cortex:Triglycerides:HDL cholesterol |
|
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 |
46914583 |
2 |
LRP4 |
T |
C |
exonic |
synonymous SNV |
LRP4:NM_002334:exon13:c.A1638G:p.K546K |
|
11 |
46914598 |
2 |
LRP4 |
A |
G |
exonic |
synonymous SNV |
LRP4:NM_002334:exon13:c.T1623C:p.D541D |
|
11 |
47188314 |
2 |
ARFGAP2 |
T |
C |
exonic |
synonymous SNV |
ARFGAP2:NM_001242832:exon12:c.A1245G:p.A415A,ARFGAP2:NM_032389:exon13:c.A1329G:p.A443A |
|
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 |
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 |
57077464 |
1 |
TNKS1BP1 |
T |
C |
exonic |
synonymous SNV |
TNKS1BP1:NM_033396:exon6:c.A2721G:p.Q907Q |
RS10896602 |
Gene expression of P2RX3
(ENSG00000109991) in dendritic cells treated with Mycobacterium tuberculosis |
|
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 |
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 |
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 |
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 |
61906374 |
2 |
INCENP |
T |
C |
exonic |
synonymous SNV |
INCENP:NM_001040694:exon7:c.T1188C:p.N396N,INCENP:NM_020238:exon7:c.T1188C:p.N396N |
RS1675126 |
Total cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
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 |
62381106 |
2 |
ROM1 |
G |
C |
exonic |
nonsynonymous SNV |
ROM1:NM_000327:exon1:c.G353C:p.G118A |
|
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 |
63313644 |
2 |
RARRES3 |
T |
C |
exonic |
synonymous SNV |
RARRES3:NM_004585:exon4:c.T411C:p.V137V |
|
11 |
63487386 |
2 |
RTN3 |
T |
C |
exonic |
nonsynonymous SNV |
RTN3:NM_001265590:exon2:c.T1076C:p.V359A,RTN3:NM_201428:exon2:c.T1355C:p.V452A,RTN3:NM_001265589:exon3:c.T1412C:p.V471A |
RS542998 |
Rheumatoid arthritis:Gene
expression of PLA2G16 in blood:Maternal transmission distortion:Tetrology of
fallot:Transmission distortion |
|
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 |
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 |
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 |
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 |
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 |
64677293 |
2 |
ATG2A |
G |
C |
exonic |
nonsynonymous SNV |
ATG2A:NM_015104:exon14:c.C1967G:p.P656R |
|
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 |
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 |
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 |
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 |
65415028 |
2 |
SIPA1 |
T |
G |
exonic |
synonymous SNV |
SIPA1:NM_006747:exon9:c.T2205G:p.T735T,SIPA1:NM_153253:exon9:c.T2205G:p.T735T |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
68822739 |
2 |
TPCN2 |
T |
C |
exonic |
synonymous SNV |
TPCN2:NM_139075:exon4:c.T348C:p.A116A |
|
11 |
68840412 |
1 |
TPCN2 |
C |
G |
exonic |
synonymous SNV |
TPCN2:NM_139075:exon13:c.C1173G:p.L391L |
|
11 |
68851466 |
1 |
TPCN2 |
G |
T |
exonic |
synonymous SNV |
TPCN2:NM_139075:exon19:c.G1743T:p.A581A |
RS896973 |
Gene expression of TPCN2 [probe
229250_at] in lymphoblastoid cell lines:Gene expression of TPCN2 in Frontal
cortex:Height |
|
11 |
68855363 |
1 |
TPCN2 |
G |
A |
exonic |
nonsynonymous SNV |
TPCN2:NM_139075:exon25:c.G2201A:p.G734E |
RS3829241 |
Gene expression of TPCN2 [probe
229250_at] in lymphoblastoid cell lines:Eye color:Hair color (blond versus
brown):Skin sensitivity to sun:Differential exon level expression of TPCN2
[probe 3337957] in peripheral blood mononuclear cells:Differential exon level
expression of TPCN2 [probe 3337957] in brain cortex:Differential exon level
expression of TPCN2 [probe 3337975] in brain cortex:Risperidone response in
schizophrenia treatment:Rheumatoid arthritis:Triglycerides:Total
cholesterol:Height:Waist hip ratio:Gene expression of TPCN2 [probe
ILMN_29131] in osteoblasts treated with BMP2:Suicide attempts in bipolar
disorder (males):Gene expression of TPCN2 in blood:Comorbid depressive
syndrome and alcohol dependence:Hair color |
|
11 |
69478942 |
2 |
|
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 |
71401614 |
2 |
|
11 |
72945341 |
2 |
P2RY2 |
C |
T |
exonic |
nonsynonymous SNV |
P2RY2:NM_002564:exon3:c.C137T:p.P46L,P2RY2:NM_176071:exon3:c.C137T:p.P46L,P2RY2:NM_176072:exon3:c.C137T:p.P46L |
|
11 |
72946020 |
2 |
P2RY2 |
C |
T |
exonic |
synonymous SNV |
P2RY2:NM_002564:exon3:c.C816T:p.R272R,P2RY2:NM_176071:exon3:c.C816T:p.R272R,P2RY2:NM_176072:exon3:c.C816T:p.R272R |
RS1783596 |
Alzheimer's
disease:HOMA-B:HOMA-IR:Fasting insulin:HDL cholesterol change with
statins:Triglycerides change with statins:Total cholesterol:LDL
cholesterol:Nicotine dependence (smoking):Waist hip
ratio:O-Acetylcarnitine:Valine:O-Acetylcarnitine:Tyrosine:Variant
Creutzfeldt-Jakob disease:Infant head circumference |
|
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 |
74049569 |
2 |
PGM2L1 |
A |
G |
exonic |
synonymous SNV |
PGM2L1:NM_173582:exon13:c.T1710C:p.S570S |
|
11 |
74053547 |
2 |
PGM2L1 |
C |
T |
exonic |
nonsynonymous SNV |
PGM2L1:NM_173582:exon12:c.G1591A:p.V531I |
RS592644 |
LDL cholesterol:LDL cholesterol
change with statins:Height |
|
11 |
74559481 |
2 |
XRRA1 |
C |
T |
exonic |
synonymous SNV |
XRRA1:NM_001270380:exon12:c.G1122A:p.P374P,XRRA1:NM_001270381:exon12:c.G558A:p.P186P,XRRA1:NM_182969:exon15:c.G1383A:p.P461P |
RS4944961 |
Gene expression of XRRA1 [probe
230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe
237666_at] in lymphoblastoid cell lines:HOMA-IR:Height:Body mass index
(BMI):College completion:Parkinson's disease:Gene expression of XRRA1 in
normal prepouch ileum:Salmonella-induced pyroptosis |
|
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 |
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 |
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 |
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 |
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 |
93425159 |
2 |
CEP295 |
C |
A |
exonic |
nonsynonymous SNV |
CEP295:NM_033395:exon12:c.C1496A:p.A499E |
RS4753495 |
Gene expression of LOC374421 in YRI
lymphoblastoid cell lines:LDL cholesterol:Adiponectin levels |
|
11 |
102666316 |
2 |
MMP1 |
T |
C |
exonic |
synonymous SNV |
MMP1:NM_001145938:exon5:c.A450G:p.A150A,MMP1:NM_002421:exon5:c.A648G:p.A216A |
RS470558 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Adiponectin levels:Refractive error |
|
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 |
108183167 |
2 |
ATM |
A |
G |
exonic |
nonsynonymous SNV |
ATM:NM_000051:exon40:c.A5948G:p.N1983S |
|
11 |
111420364 |
2 |
LAYN |
A |
G |
exonic |
synonymous SNV |
LAYN:NM_178834:exon3:c.A405G:p.P135P,LAYN:NM_001258390:exon4:c.A429G:p.P143P |
|
11 |
111749349 |
2 |
FDXACB1 |
A |
T |
exonic |
nonsynonymous SNV |
FDXACB1:NM_138378:exon2:c.T260A:p.I87N |
RS611010 |
Gene expression of PPP2R1B in
peripheral blood monocytes |
|
11 |
112065434 |
2 |
BCO2 |
T |
C |
exonic |
nonsynonymous SNV |
BCO2:NM_001256400:exon4:c.T377C:p.L126P,BCO2:NM_001037290:exon5:c.T590C:p.L197P,BCO2:NM_001256397:exon5:c.T590C:p.L197P,BCO2:NM_031938:exon5:c.T692C:p.L231P |
|
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 |
117160347 |
2 |
BACE1 |
A |
G |
exonic |
nonsynonymous SNV |
BACE1:NM_001207048:exon8:c.T1141C:p.C381R,BACE1:NM_001207049:exon8:c.T1066C:p.C356R,BACE1:NM_012104:exon9:c.T1441C:p.C481R,BACE1:NM_138971:exon9:c.T1309C:p.C437R,BACE1:NM_138972:exon9:c.T1366C:p.C456R,BACE1:NM_138973:exon9:c.T1234C:p.C412R |
|
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 |
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 |
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 |
121403229 |
2 |
SORL1 |
T |
C |
exonic |
synonymous SNV |
SORL1:NM_003105:exon12:c.T1653C:p.A551A |
|
11 |
121491782 |
2 |
SORL1 |
G |
A |
exonic |
nonsynonymous SNV |
SORL1:NM_003105:exon44:c.G5899A:p.V1967I |
|
11 |
124015994 |
2 |
VWA5A |
C |
T |
exonic |
synonymous SNV |
VWA5A:NM_014622:exon17:c.C2205T:p.H735H,VWA5A:NM_001130142:exon18:c.C2205T:p.H735H |
RS1056615 |
Diastolic blood pressure (DBP):PROP
taste detection threshold |
|
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 |
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 |
151138179 |
2 |
|
11 |
153039502 |
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 |
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 |
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 |
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 |
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 |
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 |
9070366 |
2 |
PHC1 |
T |
A |
exonic |
synonymous SNV |
PHC1:NM_004426:exon2:c.T93A:p.L31L |
RS4883198 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Gene expression of M6PR in liver |
|
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 |
10525740 |
2 |
KLRC4-KLRK1;KLRK1 |
C |
T |
exonic |
synonymous SNV |
KLRK1:NM_007360:exon8:c.G624A:p.T208T,KLRC4-KLRK1:NM_001199805:exon13:c.G624A:p.T208T |
RS1049172 |
Gene expression of KLRC4 [probe
1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe
1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe
205821_at] in lymphoblastoid cell lines:Chronic kidney disease:Methylation
levels at chr12:10479433-10479483 [hg18 coord, probe cg22432908] in Caudal
pons:Gene expression of KLRK1 [probe ILMN_29874] in osteoblasts treated with
pge-2:Gene expression of KLRD1 (ENSG00000134539) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression change of KLRD1
(ENSG00000134539) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of KLRC4 in normal prepouch ileum |
|
12 |
10763236 |
2 |
MAGOHB |
G |
C |
exonic |
synonymous SNV |
MAGOHB:NM_018048:exon2:c.C138G:p.V46V |
RS10845182 |
Fasting blood glucose:HDL
cholesterol change with statins |
|
12 |
14587301 |
2 |
ATF7IP |
A |
G |
exonic |
nonsynonymous SNV |
ATF7IP:NM_001286514:exon3:c.A1586G:p.K529R,ATF7IP:NM_001286515:exon3:c.A1586G:p.K529R,ATF7IP:NM_018179:exon3:c.A1589G:p.K530R,ATF7IP:NM_181352:exon3:c.A1613G:p.K538R |
RS3213764 |
HDL
cholesterol:Height:Free-to-total prostate-specific antigen (%fPSA):Obesity
with early age of onset (age >2):College completion:Years of education |
|
12 |
14688644 |
2 |
PLBD1 |
C |
T |
exonic |
nonsynonymous SNV |
PLBD1:NM_024829:exon6:c.G793A:p.V265I |
|
12 |
14720583 |
2 |
PLBD1 |
T |
C |
exonic |
synonymous SNV |
PLBD1:NM_024829:exon1:c.A48G:p.P16P |
|
12 |
15095558 |
2 |
ARHGDIB |
C |
G |
exonic |
synonymous SNV |
ARHGDIB:NM_001175:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321421:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321422:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321423:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321420:exon7:c.G504C:p.A168A |
RS4703 |
HDL cholesterol change with
statins:T-cell recognition in leukemia patients (minor histocompatibility
antigens):Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
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 |
27849795 |
2 |
REP15 |
C |
T |
exonic |
synonymous SNV |
REP15:NM_001029874:exon1:c.C300T:p.S100S |
RS929948 |
Differential exon level expression
of MRPS35 [probe 3409337] in brain cortex:Gene expression of MRPS35 in CD4+
lymphocytes |
|
12 |
27849796 |
2 |
REP15 |
A |
G |
exonic |
nonsynonymous SNV |
REP15:NM_001029874:exon1:c.A301G:p.N101D |
|
12 |
32134240 |
2 |
KIAA1551 |
C |
T |
exonic |
synonymous SNV |
KIAA1551:NM_018169:exon4:c.C351T:p.N117N |
RS2388982 |
LDL cholesterol:Neuroblastoma
(brain cancer):Gene expression of C12orf35 (ENSG00000174718) in dendritic
cells:Advanced age-related macular degeneration (geographic atrophy):Gene
expression change of C12orf35 (ENSG00000174718) in dendritic cells after treatment
with Mycobacterium tuberculosis |
|
12 |
32134638 |
2 |
KIAA1551 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA1551:NM_018169:exon4:c.T749C:p.L250P |
RS2166807 |
Gene expression of hmm30082 in JPT
lymphoblastoid cell lines:HDL cholesterol:Acute lung injury following major
trauma |
|
12 |
32134943 |
1 |
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 |
32996192 |
1 |
PKP2 |
G |
T |
exonic |
synonymous SNV |
PKP2:NM_004572:exon6:c.C1434A:p.A478A |
|
12 |
32996218 |
2 |
PKP2 |
C |
A |
exonic |
nonsynonymous SNV |
PKP2:NM_004572:exon6:c.G1408T:p.G470C |
|
12 |
32996221 |
2 |
PKP2 |
T |
A |
exonic |
nonsynonymous SNV |
PKP2:NM_004572:exon6:c.A1405T:p.N469Y |
|
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 |
42839836 |
2 |
PPHLN1 |
A |
C |
exonic |
nonsynonymous SNV |
PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P |
|
12 |
47168898 |
2 |
SLC38A4 |
G |
A |
exonic |
synonymous SNV |
SLC38A4:NM_001143824:exon13:c.C1233T:p.P411P,SLC38A4:NM_018018:exon14:c.C1233T:p.P411P |
|
12 |
49221622 |
1 |
CACNB3 |
G |
A |
exonic |
synonymous SNV |
CACNB3:NM_001206915:exon12:c.G1272A:p.E424E,CACNB3:NM_000725:exon13:c.G1395A:p.E465E,CACNB3:NM_001206916:exon13:c.G1392A:p.E464E,CACNB3:NM_001206917:exon13:c.G1356A:p.E452E |
RS1045340 |
Body mass index (BMI):Refractive
error:Years of education:Gene expression of DDX23 (ENSG00000174243) in
dendritic cells treated with Mycobacterium tuberculosis:College completion |
|
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 |
49434074 |
1 |
KMT2D |
C |
A |
exonic |
synonymous SNV |
KMT2D:NM_003482:exon31:c.G7479T:p.G2493G |
|
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 |
50529736 |
1 |
CERS5 |
G |
A |
exonic |
synonymous SNV |
CERS5:NM_001331070:exon7:c.C753T:p.D251D,CERS5:NM_001331071:exon7:c.C753T:p.D251D,CERS5:NM_147190:exon7:c.C753T:p.D251D,CERS5:NM_001281731:exon8:c.C579T:p.D193D,CERS5:NM_001331069:exon8:c.C579T:p.D193D,CERS5:NM_001331072:exon8:c.C321T:p.D107D,CERS5:NM_001331073:exon8:c.C321T:p.D107D |
RS3741562 |
LDL cholesterol:HOMA-IR:Fasting
insulin:LDL cholesterol:Total cholesterol:LDL cholesterol change with
statins:Serum creatinine:HDL cholesterol:College completion:Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
52565322 |
2 |
KRT80 |
G |
T |
exonic |
synonymous SNV |
KRT80:NM_001081492:exon9:c.C1254A:p.P418P |
|
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 |
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 |
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 |
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 |
57109931 |
2 |
NACA |
A |
T |
exonic |
nonsynonymous SNV |
NACA:NM_001113203:exon5:c.T1924A:p.S642T |
RS2926747 |
Type 2 diabetes |
|
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 |
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 |
58019472 |
2 |
SLC26A10 |
T |
G |
exonic |
nonsynonymous SNV |
SLC26A10:NM_133489:exon14:c.T1636G:p.L546V |
|
12 |
58149446 |
2 |
9-Mar |
C |
T |
exonic |
synonymous SNV |
MARCH9:NM_138396:exon1:c.C135T:p.G45G |
|
12 |
64472803 |
2 |
SRGAP1 |
A |
T |
exonic |
synonymous SNV |
SRGAP1:NM_001346201:exon9:c.A1230T:p.S410S,SRGAP1:NM_020762:exon9:c.A1230T:p.S410S |
|
12 |
64519806 |
1 |
SRGAP1 |
T |
C |
exonic |
synonymous SNV |
SRGAP1:NM_001346201:exon19:c.T2205C:p.S735S,SRGAP1:NM_020762:exon19:c.T2274C:p.S758S |
RS789722 |
Eye color:Resistance to kuru in aged
women despite likely exposure |
|
12 |
64609562 |
2 |
C12orf66 |
C |
T |
exonic |
nonsynonymous SNV |
C12orf66:NM_001300940:exon2:c.G417A:p.M139I,C12orf66:NM_001300941:exon2:c.G258A:p.M86I,C12orf66:NM_152440:exon2:c.G417A:p.M139I |
|
12 |
65563712 |
1 |
LEMD3 |
C |
T |
exonic |
synonymous SNV |
LEMD3:NM_001167614:exon1:c.C336T:p.A112A,LEMD3:NM_014319:exon1:c.C336T:p.A112A |
|
12 |
72013832 |
1 |
ZFC3H1 |
A |
G |
exonic |
synonymous SNV |
ZFC3H1:NM_144982:exon26:c.T4923C:p.A1641A |
RS1298463 |
Hypertension:LDL cholesterol:2 hour
glucose:LDL cholesterol change with statins:Adiponectin levels |
|
12 |
77449790 |
2 |
E2F7 |
A |
G |
exonic |
nonsynonymous SNV |
E2F7:NM_203394:exon3:c.T214C:p.F72L |
RS310791 |
Stabilized warfarin
dose:Schizophrenia:Sporadic Creutzfeldt-Jakob disease:Tourette's
syndrome:Salmonella-induced pyroptosis |
|
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 |
82792787 |
2 |
METTL25 |
C |
A |
exonic |
nonsynonymous SNV |
METTL25:NM_001319675:exon4:c.C484A:p.Q162K,METTL25:NM_032230:exon4:c.C745A:p.Q249K,METTL25:NM_001347934:exon5:c.C589A:p.Q197K |
RS4296098 |
Gene expression of C12orf26 in
liver:HDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob disease |
|
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 |
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 |
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 |
95604290 |
1 |
FGD6 |
T |
C |
exonic |
nonsynonymous SNV |
FGD6:NM_018351:exon2:c.A770G:p.Q257R |
RS10507047 |
Premature ovarian failure:Gene
expression of VEZT in blood |
|
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 |
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 |
101683929 |
1 |
UTP20 |
C |
T |
exonic |
synonymous SNV |
UTP20:NM_014503:exon7:c.C612T:p.N204N |
RS703715 |
Gene expression of ZSWIM1 in
peripheral blood monocytes |
|
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 |
102517753 |
1 |
PARPBP |
T |
C |
exonic |
synonymous SNV |
PARPBP:NM_001319988:exon2:c.T87C:p.T29T,PARPBP:NM_001319996:exon2:c.T87C:p.T29T,PARPBP:NM_017915:exon2:c.T87C:p.T29T |
RS2036772 |
LDL cholesterol:Cystatin C in
serum:Autism with low IQ:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
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 |
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 |
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 |
108954823 |
2 |
SART3 |
C |
T |
exonic |
synonymous SNV |
SART3:NM_014706:exon1:c.G108A:p.R36R |
|
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 |
109182049 |
1 |
SSH1 |
T |
C |
exonic |
synonymous SNV |
SSH1:NM_018984:exon15:c.A2865G:p.T955T |
|
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 |
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 |
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 |
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 |
113386950 |
2 |
OAS3 |
T |
C |
exonic |
synonymous SNV |
OAS3:NM_006187:exon6:c.T1314C:p.I438I |
RS2285932 |
Crohn's disease, combined control
dataset, gender differentiated:Abnormal Involuntary Movement Scale:Lp-PLA2
activity:Gene expression of OAS3 in peripheral blood
monocytes:Microalbuminuria:Refractive error:Parkinson's disease: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:Gene expression of OAS1 (probeID ILMN_1658247) in temporal cortex
in Alzheimer's disease cases and controls |
|
12 |
113425154 |
2 |
OAS2 |
C |
G |
exonic |
nonsynonymous SNV |
OAS2:NM_001032731:exon2:c.C489G:p.S163R |
|
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 |
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 |
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 |
118682751 |
2 |
TAOK3 |
C |
T |
exonic |
nonsynonymous SNV |
TAOK3:NM_001346487:exon4:c.G140A:p.S47N,TAOK3:NM_001346489:exon4:c.G140A:p.S47N,TAOK3:NM_016281:exon4:c.G140A:p.S47N,TAOK3:NM_001346488:exon5:c.G140A:p.S47N |
RS428073 |
Arthritis including
non-Rheumatoid:Differential exon level expression of PEBP1 [probe 3433809] in
brain cortex:Gene expression of PEBP1 [probe 3433796] in brain
cortex:Differential exon level expression of TAOK3 [probe 3473856] in brain
cortex:Microalbuminuria:Diastolic blood pressure (DBP):Bipolar disorder |
|
12 |
120171995 |
2 |
CIT |
T |
C |
exonic |
synonymous SNV |
CIT:NM_007174:exon25:c.A3198G:p.R1066R,CIT:NM_001206999:exon26:c.A3324G:p.R1108R |
RS278109 |
Triglycerides:Years of education |
|
12 |
120189879 |
2 |
CIT |
A |
G |
exonic |
synonymous SNV |
CIT:NM_007174:exon22:c.T2754C:p.A918A,CIT:NM_001206999:exon23:c.T2880C:p.A960A |
RS904655 |
Methylation levels at
chr1:208046402-208046452 [hg18 coord, probe cg23283495] in Temporal
cortex:College completion:Years of education |
|
12 |
120189888 |
2 |
CIT |
T |
C |
exonic |
synonymous SNV |
CIT:NM_007174:exon22:c.A2745G:p.T915T,CIT:NM_001206999:exon23:c.A2871G:p.T957T |
RS904654 |
College completion:Years of
education |
|
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 |
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 |
122248582 |
2 |
SETD1B |
C |
G |
exonic |
synonymous SNV |
SETD1B:NM_015048:exon5:c.C1731G:p.L577L |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
125397750 |
2 |
UBC |
A |
G |
exonic |
nonsynonymous SNV |
UBC:NM_021009:exon2:c.T568C:p.S190P |
|
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 |
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 |
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 |
132402020 |
1 |
ULK1 |
T |
C |
exonic |
synonymous SNV |
ULK1:NM_003565:exon22:c.T2247C:p.P749P |
|
12 |
132403161 |
2 |
ULK1 |
A |
G |
exonic |
nonsynonymous SNV |
ULK1:NM_003565:exon23:c.A2446G:p.T816A |
|
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 |
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 |
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 |
133943258 |
1 |
|
12 |
152771509 |
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 |
21562832 |
2 |
LATS2 |
C |
T |
exonic |
nonsynonymous SNV |
LATS2:NM_014572:exon4:c.G1087A:p.G363S |
|
13 |
21562948 |
1 |
LATS2 |
G |
A |
exonic |
nonsynonymous SNV |
LATS2:NM_014572:exon4:c.C971T:p.A324V |
RS558614 |
PROP taste detection threshold |
|
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 |
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 |
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 |
23908034 |
2 |
SACS |
A |
G |
exonic |
synonymous SNV |
SACS:NM_001278055:exon8:c.T9540C:p.A3180A,SACS:NM_014363:exon10:c.T9981C:p.A3327A |
RS2737700 |
Triglycerides:Triglycerides:Waist
hip ratio:Adiponectin levels:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
13 |
24411772 |
2 |
MIPEP |
T |
C |
exonic |
nonsynonymous SNV |
MIPEP:NM_005932:exon13:c.A1462G:p.S488G |
|
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 |
25027744 |
2 |
PARP4 |
A |
G |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon23:c.T2807C:p.M936T |
RS4770684 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (broad definition):Recurrent
early onset major depressive disorder (males):Recurrent early onset major
depressive disorder:Systolic blood pressure (SBP) |
|
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 |
25831888 |
1 |
MTMR6 |
T |
C |
exonic |
nonsynonymous SNV |
MTMR6:NM_004685:exon8:c.A955G:p.I319V |
RS7995033 |
Eye
color:Triglycerides:Schizophrenia:Lp-PLA2 mass:Total cholesterol:LDL
cholesterol:Triglycerides:Neuroblastoma (brain cancer):Serum brain derived
neurotrophic factor concentration:PROP taste detection threshold:Gene
expression change of NUPL1 (ENSG00000139496) in dendritic cells after
treatment with Mycobacterium tuberculosis:Gene expression of MTMR6 in normal
prepouch ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
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 |
28143229 |
1 |
LNX2 |
A |
G |
exonic |
nonsynonymous SNV |
LNX2:NM_153371:exon3:c.T592C:p.S198P |
RS8002697 |
Irritible bowel syndrome:Gene
expression of POLR1D in blood cells in Celiac disease:Eur students <30
Delayed Story Recall:HDL cholesterol:Gene expression of POLR1D in
blood:Primary rhegmatogenous retinal detachment |
|
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 |
30091714 |
2 |
SLC7A1 |
G |
A |
exonic |
synonymous SNV |
SLC7A1:NM_003045:exon10:c.C1506T:p.L502L |
RS2482089 |
Serum creatinine:Transmission
distortion:Maternal transmission distortion:Mitral annular calcium |
|
13 |
30091819 |
2 |
SLC7A1 |
G |
C |
exonic |
synonymous SNV |
SLC7A1:NM_003045:exon10:c.C1401G:p.G467G |
RS2482090 |
Serum creatinine:Mitral annular
calcium |
|
13 |
31036681 |
2 |
HMGB1 |
A |
G |
exonic |
synonymous SNV |
HMGB1:NM_001313892:exon4:c.T465C:p.Y155Y,HMGB1:NM_001313893:exon4:c.T465C:p.Y155Y,HMGB1:NM_002128:exon4:c.T465C:p.Y155Y |
|
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 |
35615135 |
2 |
NBEA |
T |
C |
exonic |
synonymous SNV |
NBEA:NM_015678:exon2:c.T360C:p.C120C |
|
13 |
35615150 |
2 |
NBEA |
G |
A |
exonic |
synonymous SNV |
NBEA:NM_015678:exon2:c.G375A:p.L125L |
|
13 |
35630202 |
1 |
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 |
41705495 |
2 |
KBTBD6 |
A |
G |
exonic |
synonymous SNV |
KBTBD6:NM_152903:exon1:c.T1153C:p.L385L |
|
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 |
43639845 |
1 |
DNAJC15 |
A |
C |
exonic |
synonymous SNV |
DNAJC15:NM_013238:exon2:c.A132C:p.G44G |
|
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 |
47260054 |
2 |
LRCH1 |
T |
C |
exonic |
nonsynonymous SNV |
LRCH1:NM_001164211:exon5:c.T700C:p.S234P,LRCH1:NM_001164213:exon5:c.T700C:p.S234P,LRCH1:NM_015116:exon5:c.T700C:p.S234P |
RS842381 |
Infant head circumference |
|
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 |
50057633 |
1 |
SETDB2;SETDB2-PHF11 |
A |
G |
exonic |
synonymous SNV |
SETDB2:NM_001160308:exon10:c.A1416G:p.Q472Q,SETDB2:NM_001320699:exon10:c.A1416G:p.Q472Q,SETDB2-PHF11:NM_001320727:exon10:c.A1416G:p.Q472Q,SETDB2:NM_031915:exon11:c.A1452G:p.Q484Q |
RS11619265 |
Arthritis including
non-Rheumatoid:Total cholesterol:Neuroblastoma (brain cancer):Gene expression
of PHF11 in blood:Gene expression of PHF11 (probeID ILMN_2390162) in
cerebellum in Alzheimer's disease cases:Gene expression of PHF11 (probeID
ILMN_2390162) in cerebellum in Progressive Supranuclear Palsy cases: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:Gene expression of PHF11
(probeID ILMN_2390162) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in
non-Alzheimer's disease samples:Gene expression of PHF11 (probeID
ILMN_2390162) 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 |
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 |
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 |
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 |
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 |
53217035 |
1 |
HNRNPA1L2 |
C |
A |
exonic |
synonymous SNV |
HNRNPA1L2:NM_001011725:exon6:c.C408A:p.I136I,HNRNPA1L2:NM_001011724:exon7:c.C408A:p.I136I |
RS9536211 |
Body mass index (BMI):Gene
expression of LOC220115 (probeID ILMN_2184525) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of LOC220115 (probeID
ILMN_2184525) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of LOC220115 (probeID ILMN_2184525) in temporal cortex in
Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression
of LOC220115 (probeID ILMN_2184525) in cerebellum in Alzheimer's disease
cases:Gene expression of LOC220115 (probeID ILMN_2184525) in temporal cortex
in Alzheimer's disease cases:Aortic valve calcium |
|
13 |
57405163 |
2 |
|
13 |
73349359 |
1 |
DIS3 |
G |
C |
exonic |
nonsynonymous SNV |
DIS3:NM_001322348:exon5:c.C608G:p.T203R,DIS3:NM_001128226:exon6:c.C887G:p.T296R,DIS3:NM_014953:exon6:c.C977G:p.T326R,DIS3:NM_001322349:exon7:c.C491G:p.T164R |
RS7332388 |
Fasting blood
glucose:Height:Systolic blood pressure (SBP):Mitral annular calcium |
|
13 |
75876389 |
1 |
TBC1D4 |
G |
A |
exonic |
synonymous SNV |
TBC1D4:NM_001286659:exon14:c.C2712T:p.L904L,TBC1D4:NM_001286658:exon15:c.C2877T:p.L959L,TBC1D4:NM_014832:exon16:c.C2901T:p.L967L |
RS2297208 |
Gene expression of TBC1D4 in CEU
lymphoblastoid cell lines:Gene expression of TBC1D4 [probe 203387_s_at] in
lymphoblastoid cell lines:Gene expression of TBC1D4 in Lymphoblastoid cell
lines:Fasting blood glucose:Chronic kidney disease:Cystatin C in serum:Rheumatoid
arthritis:Urinary albumin-to-creatinine ratio:Microalbuminuria:Late onset
Alzheimer's disease:Gene expression of TBC1D4 in blood |
|
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 |
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 |
95714976 |
2 |
ABCC4 |
C |
T |
exonic |
synonymous SNV |
ABCC4:NM_001301829:exon25:c.G3207A:p.K1069K,ABCC4:NM_005845:exon26:c.G3348A:p.K1116K |
RS1751034 |
HDL cholesterol change with
statins:Total cholesterol:Chronic kidney disease:Triglycerides:Total
cholesterol:LDL cholesterol:Microalbuminuria:Paternal transmission distortion |
|
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 |
95727780 |
2 |
ABCC4 |
T |
C |
exonic |
synonymous SNV |
ABCC4:NM_001301829:exon21:c.A2571G:p.L857L,ABCC4:NM_005845:exon22:c.A2712G:p.L904L |
RS1678339 |
HDL cholesterol:Cystatin C in serum |
|
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 |
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 |
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 |
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 |
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 |
111155773 |
2 |
COL4A2 |
T |
C |
exonic |
synonymous SNV |
COL4A2:NM_001846:exon43:c.T4083C:p.T1361T |
|
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 |
111368164 |
2 |
ING1 |
T |
G |
exonic |
nonsynonymous SNV |
ING1:NM_005537:exon1:c.T374G:p.L125R |
|
13 |
111368316 |
2 |
ING1 |
C |
T |
exonic |
synonymous SNV |
ING1:NM_005537:exon1:c.C526T:p.L176L |
|
13 |
113527967 |
1 |
ATP11A |
G |
A |
exonic |
synonymous SNV |
ATP11A:NM_015205:exon27:c.G3138A:p.S1046S,ATP11A:NM_032189:exon27:c.G3138A:p.S1046S |
|
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 |
114780764 |
2 |
RASA3 |
A |
G |
exonic |
synonymous SNV |
RASA3:NM_001320822:exon14:c.T1230C:p.T410T,RASA3:NM_007368:exon14:c.T1326C:p.T442T,RASA3:NM_001320821:exon16:c.T177C:p.T59T |
RS2274717 |
Height:Microalbuminuria |
|
13 |
149680554 |
2 |
|
14 |
20770036 |
1 |
TTC5 |
T |
C |
exonic |
nonsynonymous SNV |
TTC5:NM_138376:exon2:c.A140G:p.Q47R |
RS3742945 |
Triglycerides:Differential exon
level expression of PARP2 [probe 3527423] in brain cortex:Differential exon
level expression of TEP1 [probe 3555416] in brain cortex:Differential exon
level expression of PARP2 [probe 3527423] in peripheral blood mononuclear
cells:Serum creatinine:Gene expression of TTC5 in peripheral blood
monocytes:Gene expression of PARP2 in peripheral blood monocytes:Gene
expression of RPPH1 in peripheral blood monocytes:Gene expression of TTC5 in
blood:Obesity with early age of onset (age >2) |
|
14 |
20824181 |
1 |
PARP2 |
T |
C |
exonic |
synonymous SNV |
PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y |
RS3093930 |
Longstanding arthritis:LDL
cholesterol:Differential exon level expression of PARP2 [probe 3527423] in
brain cortex:Gene expression of RPPH1 in peripheral blood monocytes:Urinary
albumin-to-creatinine ratio:Gene expression of TTC5 in blood:Obesity with early
age of onset (age >2) |
|
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 |
21551069 |
2 |
ARHGEF40 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF40:NM_001278529:exon16:c.T1424C:p.L475S,ARHGEF40:NM_001278530:exon16:c.T1424C:p.L475S,ARHGEF40:NM_018071:exon16:c.T3566C:p.L1189S |
RS1958396 |
Irritible bowel
syndrome:Longstanding arthritis:Gene expression of RNASE2 [probe ILMN_10025]
in osteoblasts treated with BMP2:Gene expression of RNASE2 [probe ILMN_10025]
in osteoblasts treated with dexamethasone:Resistance to kuru in aged women
despite likely exposure |
|
14 |
21570614 |
2 |
TMEM253 |
A |
C |
exonic |
synonymous SNV |
TMEM253:NM_001146683:exon6:c.A327C:p.I109I |
RS4982408 |
Alzheimer's disease:HDL cholesterol
change with statins |
|
14 |
21871653 |
1 |
CHD8 |
C |
T |
exonic |
synonymous SNV |
CHD8:NM_001170629:exon16:c.G3477A:p.V1159V,CHD8:NM_020920:exon17:c.G2640A:p.V880V |
RS8022395 |
HOMA-B |
|
14 |
23240328 |
1 |
OXA1L |
T |
A |
exonic |
synonymous SNV |
OXA1L:NM_005015:exon8:c.T1221A:p.R407R |
RS8786 |
Bipolar disorder, gender
differentiated:Waist hip ratio |
|
14 |
23242828 |
2 |
SLC7A7 |
T |
C |
exonic |
synonymous SNV |
SLC7A7:NM_001126105:exon11:c.A1527G:p.K509K,SLC7A7:NM_001126106:exon11:c.A1527G:p.K509K |
RS1061040 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Age at death with kuru exposure:Refractive
error |
|
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 |
23530622 |
1 |
ACIN1 |
T |
C |
exonic |
synonymous SNV |
ACIN1:NM_001164816:exon10:c.A1302G:p.S434S,ACIN1:NM_001164817:exon11:c.A1209G:p.S403S,ACIN1:NM_001164815:exon16:c.A3363G:p.S1121S,ACIN1:NM_001164814:exon17:c.A3444G:p.S1148S,ACIN1:NM_014977:exon17:c.A3483G:p.S1161S |
|
14 |
23549319 |
1 |
ACIN1 |
A |
G |
exonic |
nonsynonymous SNV |
ACIN1:NM_001164815:exon5:c.T1279C:p.S427P,ACIN1:NM_001164814:exon6:c.T1399C:p.S467P,ACIN1:NM_014977:exon6:c.T1399C:p.S467P |
RS1885097 |
HDL cholesterol:Gene expression of
SNTB1 in peripheral blood monocytes:HDL cholesterol:Height:Parkinson's
disease |
|
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 |
23549785 |
1 |
ACIN1 |
T |
C |
exonic |
nonsynonymous SNV |
ACIN1:NM_001164815:exon5:c.A813G:p.I271M,ACIN1:NM_001164814:exon6:c.A933G:p.I311M,ACIN1:NM_014977:exon6:c.A933G:p.I311M |
RS3811182 |
HDL
cholesterol:Triglycerides:HOMA-B:Parkinson's disease |
|
14 |
23745533 |
1 |
HOMEZ |
C |
T |
exonic |
nonsynonymous SNV |
HOMEZ:NM_020834:exon2:c.G904A:p.A302T |
RS10131813 |
Tardive dyskinesia:Waist hip
ratio:Bipolar disorder:Obesity with early age of onset (age
>2):Parkinson's disease |
|
14 |
23777374 |
2 |
BCL2L2;BCL2L2-PABPN1 |
A |
G |
exonic |
nonsynonymous SNV |
BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R |
RS910332 |
Systolic blood pressure (SBP):Birth
weight |
|
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 |
24736027 |
1 |
RABGGTA |
G |
A |
exonic |
synonymous SNV |
RABGGTA:NM_004581:exon14:c.C1422T:p.R474R,RABGGTA:NM_182836:exon15:c.C1422T:p.R474R |
RS14193 |
Gene expression of ADCY4 in
peripheral blood monocytes:Gene expression of RABGGTA in peripheral blood
monocytes:Gene expression of LTB4R2 [transcript NM_019839, probe
A_23_P163173] in liver:Gene expression of RABGGTA (probeID ILMN_2299221) in
breast tumors |
|
14 |
24736961 |
1 |
RABGGTA |
T |
C |
exonic |
nonsynonymous SNV |
RABGGTA:NM_004581:exon13:c.A1258G:p.T420A,RABGGTA:NM_182836:exon14:c.A1258G:p.T420A |
RS729421 |
Differential splicing of RABGGTA
[probeset 3558081] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Gene
expression of RABGGTA in normal prepouch ileum:Advanced age-related macular
degeneration:Refractive error:Parkinson's disease:Aortic valve calcium:Gene
expression of DHRS1 in normal prepouch ileum |
|
14 |
24901249 |
1 |
KHNYN |
A |
C |
exonic |
nonsynonymous SNV |
KHNYN:NM_001290256:exon3:c.A905C:p.K302T,KHNYN:NM_001290257:exon3:c.A782C:p.K261T,KHNYN:NM_015299:exon3:c.A782C:p.K261T |
RS3742520 |
Cystatin C in serum:Serum
creatinine:Methylation levels at chr14:23969834-23969884 [hg18 coord, probe
cg13105904] in Caudal pons:LDL cholesterol:Total
cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression of KIAA0323 in blood:Gene expression of GZMB in blood:Gene
expression of CTSG in blood:Gene expression of CBLN3 in blood:Gene expression
of CBLN3 [probeset 235221_at] in sputum:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
31355096 |
1 |
COCH |
C |
G |
exonic |
nonsynonymous SNV |
COCH:NM_001135058:exon10:c.C1055G:p.T352S,COCH:NM_001347720:exon10:c.C1250G:p.T417S,COCH:NM_004086:exon11:c.C1055G:p.T352S |
RS1045644 |
Mitral annular calcium |
|
14 |
31381351 |
2 |
STRN3 |
T |
C |
exonic |
nonsynonymous SNV |
STRN3:NM_014574:exon9:c.A1160G:p.N387S,STRN3:NM_001083893:exon11:c.A1412G:p.N471S |
RS2273171 |
Hip bone mineral density
(BMD):Irritible bowel syndrome:Serum creatinine:Gene expression of STRN3 in
blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Bipolar
disorder:Coronary artery disease (CAD):Aortic valve calcium:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
14 |
31578762 |
1 |
HECTD1 |
C |
T |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon36:c.G6321A:p.E2107E |
RS17097735 |
Irritible bowel syndrome:Abnormal
Involuntary Movement Scale:Gene expression of ARHGAP5 [probe 217936_at] in
prefrontal cortex:LDL cholesterol:Parkinson's disease:Aortic valve
calcium:Gene expression change of HECTD1 (ENSG00000092148) in dendritic cells
after treatment with Mycobacterium tuberculosis:Prostate cancer |
|
14 |
31582380 |
2 |
HECTD1 |
A |
G |
exonic |
nonsynonymous SNV |
HECTD1:NM_015382:exon34:c.T6080C:p.L2027P |
|
14 |
31582526 |
1 |
HECTD1 |
T |
C |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon33:c.A6021G:p.L2007L |
RS2273483 |
Total cholesterol:Body mass index
(BMI):Gene expression of AP4S1 [transcript NM_007077, probe A_24_P12281] in
liver:College completion:Prostate cancer |
|
14 |
31619392 |
1 |
HECTD1 |
T |
C |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon13:c.A1968G:p.Q656Q |
RS11620816 |
Abnormal Involuntary Movement
Scale:Lp-PLA2 activity:Prostate cancer:Birth weight |
|
14 |
31647241 |
1 |
HECTD1 |
G |
A |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon3:c.C360T:p.A120A |
RS2274201 |
Premature ovarian failure:Lp-PLA2
activity:Prostate cancer |
|
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 |
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 |
35242828 |
1 |
BAZ1A |
G |
A |
exonic |
synonymous SNV |
BAZ1A:NM_182648:exon19:c.C3006T:p.D1002D,BAZ1A:NM_013448:exon20:c.C3102T:p.D1034D |
RS2275145 |
Irritible bowel syndrome:Rheumatoid
arthritis:Triglycerides change with statins:Total cholesterol change with
statins |
|
14 |
35592538 |
1 |
KIAA0391 |
C |
G |
exonic |
synonymous SNV |
KIAA0391:NM_001256678:exon2:c.C87G:p.V29V,KIAA0391:NM_014672:exon2:c.C87G:p.V29V |
RS941653 |
Rheumatoid arthritis:College
completion:Years of education |
|
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 |
39517925 |
1 |
SEC23A |
T |
C |
exonic |
synonymous SNV |
SEC23A:NM_006364:exon15:c.A1668G:p.K556K |
RS12895000 |
Triglycerides:Total cholesterol:LDL
cholesterol:Triglycerides:Systolic blood pressure (SBP) |
|
14 |
39556185 |
1 |
SEC23A |
G |
C |
exonic |
nonsynonymous SNV |
SEC23A:NM_006364:exon6:c.C631G:p.L211V |
RS8018720 |
Tardive dyskinesia:Simpson-Angus
Scale:Rheumatoid arthritis:Aortic valve calcium |
|
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 |
39650924 |
1 |
PNN |
A |
G |
exonic |
nonsynonymous SNV |
PNN:NM_002687:exon9:c.A2011G:p.S671G |
RS13021 |
Differential exon level expression
of SEC23A [probe 3561985] in brain cortex:Differential exon level expression
of SEC23A [probe 3561985] in peripheral blood mononuclear cells:Premature
ovarian failure:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of SS18 in
Temporal cortex:Allergic rhinitis:Atopy:Gene expression of CTAGE5 in
blood:Gene expression of PNN in blood:Gene expression of TRAPPC6B in
blood:Years of education:College completion |
|
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 |
39777676 |
1 |
MIA2 |
G |
C |
exonic |
nonsynonymous SNV |
MIA2:NM_001247988:exon13:c.G991C:p.E331Q,MIA2:NM_001247989:exon13:c.G1093C:p.E365Q,MIA2:NM_001247990:exon13:c.G853C:p.E285Q,MIA2:NM_005930:exon13:c.G1078C:p.E360Q,MIA2:NM_203354:exon13:c.G1042C:p.E348Q,MIA2:NM_203355:exon13:c.G1078C:p.E360Q,MIA2:NM_203356:exon13:c.G991C:p.E331Q,MIA2:NM_001329214:exon18:c.G2902C:p.E968Q |
RS1950952 |
HDL
cholesterol:Triglycerides:Triglycerides:Waist hip ratio:Systolic blood
pressure (SBP):Obesity with early age of onset (age >2) |
|
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 |
50298962 |
2 |
NEMF |
T |
A |
exonic |
nonsynonymous SNV |
NEMF:NM_001301732:exon9:c.A769T:p.S257C,NEMF:NM_004713:exon9:c.A769T:p.S257C |
|
14 |
51237701 |
2 |
NIN |
A |
G |
exonic |
synonymous SNV |
NIN:NM_016350:exon11:c.T1128C:p.V376V,NIN:NM_020921:exon11:c.T1128C:p.V376V,NIN:NM_182944:exon11:c.T1128C:p.V376V,NIN:NM_182946:exon11:c.T1128C:p.V376V |
RS17793018 |
LDL cholesterol:HOMA-B:Gene
expression of TEAD1 in peripheral blood monocytes:Bipolar disorder in
alcoholics:Adiponectin levels:Parkinson's disease |
|
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 |
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 |
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 |
58917454 |
2 |
KIAA0586 |
G |
A |
exonic |
synonymous SNV |
KIAA0586:NM_001244193:exon5:c.G699A:p.S233S,KIAA0586:NM_001244191:exon8:c.G864A:p.S288S,KIAA0586:NM_001329943:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329944:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329945:exon8:c.G864A:p.S288S,KIAA0586:NM_001329946:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329947:exon8:c.G1119A:p.S373S,KIAA0586:NM_014749:exon8:c.G1119A:p.S373S,KIAA0586:NM_001244190:exon9:c.G1074A:p.S358S,KIAA0586:NM_001244192:exon9:c.G987A:p.S329S,KIAA0586:NM_001244189:exon10:c.G1278A:p.S426S |
|
14 |
58937416 |
2 |
KIAA0586 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA0586:NM_001244193:exon14:c.T2108C:p.L703P,KIAA0586:NM_014749:exon16:c.T2300C:p.L767P,KIAA0586:NM_001244191:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329943:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329944:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329945:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329946:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329947:exon17:c.T2528C:p.L843P,KIAA0586:NM_001244190:exon18:c.T2483C:p.L828P,KIAA0586:NM_001244192:exon18:c.T2396C:p.L799P,KIAA0586:NM_001244189:exon19:c.T2687C:p.L896P |
|
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 |
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 |
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 |
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 |
61997226 |
2 |
PRKCH |
C |
T |
exonic |
synonymous SNV |
PRKCH:NM_006255:exon12:c.C1674T:p.N558N |
RS1088680 |
Schizophrenia:HOMA-B:Total
cholesterol change with statins:LDL cholesterol change with statins:Serum
creatinine:Cystatin C in serum:Height:Rheumatoid arthritis:Paternal
transmission distortion:Aortic valve calcium |
|
14 |
64612858 |
2 |
SYNE2 |
C |
A |
exonic |
nonsynonymous SNV |
SYNE2:NM_015180:exon84:c.C15556A:p.L5186M,SYNE2:NM_182914:exon84:c.C15556A:p.L5186M |
RS10151658 |
HOMA-B |
|
14 |
64935720 |
2 |
AKAP5 |
C |
T |
exonic |
nonsynonymous SNV |
AKAP5:NM_004857:exon2:c.C608T:p.T203I |
|
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 |
68234539 |
2 |
ZFYVE26 |
T |
C |
exonic |
nonsynonymous SNV |
ZFYVE26:NM_015346:exon31:c.A5672G:p.N1891S |
|
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 |
71374702 |
2 |
PCNX1 |
G |
A |
exonic |
synonymous SNV |
PCNX1:NM_001308160:exon1:c.G135A:p.L45L,PCNX1:NM_014982:exon1:c.G135A:p.L45L |
|
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 |
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 |
74514674 |
2 |
BBOF1 |
A |
T |
exonic |
nonsynonymous SNV |
BBOF1:NM_025057:exon7:c.A689T:p.D230V |
RS3784038 |
HOMA-B:Fasting
insulin:HOMA-IR:Rheumatoid arthritis |
|
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 |
77697967 |
2 |
TMEM63C |
A |
G |
exonic |
synonymous SNV |
TMEM63C:NM_020431:exon7:c.A387G:p.A129A |
|
14 |
77745193 |
2 |
POMT2 |
A |
C |
exonic |
synonymous SNV |
POMT2:NM_013382:exon19:c.T1911G:p.L637L |
RS3209079 |
Total cholesterol:LDL
cholesterol:Gene expression of POMT2 (ENSG00000009830) in dendritic cells
treated with Mycobacterium tuberculosis |
|
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 |
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 |
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 |
86088056 |
2 |
FLRT2 |
T |
C |
exonic |
synonymous SNV |
FLRT2:NM_001346143:exon2:c.T198C:p.T66T,FLRT2:NM_001346144:exon2:c.T198C:p.T66T,FLRT2:NM_001346145:exon2:c.T198C:p.T66T,FLRT2:NM_001346146:exon2:c.T198C:p.T66T,FLRT2:NM_013231:exon2:c.T198C:p.T66T |
|
14 |
91123575 |
2 |
TTC7B |
T |
C |
exonic |
synonymous SNV |
TTC7B:NM_001010854:exon11:c.A1284G:p.P428P,TTC7B:NM_001320421:exon11:c.A978G:p.P326P |
|
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 |
94510964 |
2 |
OTUB2 |
T |
C |
exonic |
synonymous SNV |
OTUB2:NM_023112:exon5:c.T336C:p.D112D |
RS2273226 |
LDL cholesterol:Infant head
circumference:Mitral annular calcium |
|
14 |
94524216 |
2 |
DDX24 |
T |
C |
exonic |
synonymous SNV |
DDX24:NM_020414:exon6:c.A1941G:p.A647A |
|
14 |
96771959 |
2 |
ATG2B |
A |
G |
exonic |
nonsynonymous SNV |
ATG2B:NM_018036:exon31:c.T4700C:p.I1567T |
RS2289622 |
Eye color:Aortic valve calcium |
|
14 |
100331876 |
2 |
EML1 |
T |
C |
exonic |
synonymous SNV |
EML1:NM_001008707:exon3:c.T276C:p.P92P,EML1:NM_004434:exon3:c.T276C:p.P92P |
RS11160553 |
Amyotrophic lateral sclerosis
(ALS):Fasting insulin:Cystatin C in serum:HDL cholesterol:Triglycerides:High
myopia:Late onset Alzheimer's disease:PROP taste detection
threshold:Adiponectin levels:Obesity with early age of onset (age >2) |
|
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 |
102802129 |
1 |
ZNF839 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF839:NM_001267827:exon5:c.G1265A:p.S422N,ZNF839:NM_001267828:exon5:c.G1265A:p.S422N,ZNF839:NM_018335:exon5:c.G1613A:p.S538N |
|
14 |
102802145 |
1 |
ZNF839 |
C |
T |
exonic |
synonymous SNV |
ZNF839:NM_001267827:exon5:c.C1281T:p.S427S,ZNF839:NM_001267828:exon5:c.C1281T:p.S427S,ZNF839:NM_018335:exon5:c.C1629T:p.S543S |
|
14 |
102894593 |
2 |
TECPR2 |
G |
A |
exonic |
nonsynonymous SNV |
TECPR2:NM_001172631:exon7:c.G958A:p.V320I,TECPR2:NM_014844:exon7:c.G958A:p.V320I |
RS1309353 |
Body mass index (BMI):Height:Age at
death with kuru exposure |
|
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 |
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 |
21154466 |
2 |
|
15 |
22840279 |
1 |
TUBGCP5 |
G |
T |
exonic |
synonymous SNV |
TUBGCP5:NM_001102610:exon4:c.G345T:p.L115L,TUBGCP5:NM_052903:exon4:c.G345T:p.L115L |
|
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 |
25961964 |
2 |
ATP10A |
A |
G |
exonic |
synonymous SNV |
ATP10A:NM_024490:exon9:c.T1689C:p.P563P |
|
15 |
28412872 |
2 |
HERC2 |
G |
A |
exonic |
synonymous SNV |
HERC2:NM_004667:exon68:c.C10515T:p.A3505A |
|
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 |
28460900 |
1 |
HERC2 |
G |
A |
exonic |
nonsynonymous SNV |
HERC2:NM_004667:exon39:c.C6077T:p.T2026M |
|
15 |
28502243 |
1 |
HERC2 |
A |
G |
exonic |
synonymous SNV |
HERC2:NM_004667:exon17:c.T2481C:p.C827C |
|
15 |
28517436 |
1 |
HERC2 |
T |
C |
exonic |
synonymous SNV |
HERC2:NM_004667:exon9:c.A1008G:p.P336P |
|
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 |
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 |
38614525 |
2 |
SPRED1 |
G |
A |
exonic |
synonymous SNV |
SPRED1:NM_152594:exon3:c.G291A:p.K97K |
RS7182445 |
Fasting insulin:HOMA-IR:HDL
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
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 |
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 |
40330564 |
2 |
SRP14 |
C |
T |
exonic |
synonymous SNV |
SRP14:NM_003134:exon3:c.G129A:p.K43K |
|
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 |
40914772 |
1 |
KNL1 |
C |
T |
exonic |
synonymous SNV |
KNL1:NM_144508:exon10:c.C2310T:p.V770V,KNL1:NM_170589:exon11:c.C2388T:p.V796V |
RS11855334 |
Gene expression of MGC20481 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C15orf57 [probe
225397_at] in lymphoblastoid cell lines:Gene expression of RAD51 [probe
205023_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe
1560814_a_at] in lymphoblastoid cell lines:Serum creatinine:Chronic kidney
disease:Gene expression of CCDC32 in Cerebellum:Gene expression of C15orf57
(probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of C15orf57 in normal prepouch ileum:College
completion:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum
in Alzheimer's disease cases and controls: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 temporal
cortex in Alzheimer's disease cases and controls |
|
15 |
40915045 |
1 |
KNL1 |
T |
G |
exonic |
synonymous SNV |
KNL1:NM_144508:exon10:c.T2583G:p.T861T,KNL1:NM_170589:exon11:c.T2661G:p.T887T |
RS8041534 |
Gene expression of C15orf57 [probe
225397_at] in lymphoblastoid cell lines:Gene expression of RAD51 [probe
205023_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe
1560814_a_at] in lymphoblastoid cell lines:Serum creatinine:Chronic kidney
disease:Gene expression of CCDC32 in Cerebellum:Gene expression of C15orf57
in normal prepouch ileum: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 temporal cortex in Alzheimer's disease
cases and controls:College completion:Gene expression of C15orf57 (probeID
ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's
disease cases and controls |
|
15 |
40915190 |
1 |
KNL1 |
A |
G |
exonic |
nonsynonymous SNV |
KNL1:NM_144508:exon10:c.A2728G:p.R910G,KNL1:NM_170589:exon11:c.A2806G:p.R936G |
RS8040502 |
College completion:Gene expression
of C15orf57 in normal prepouch ileum |
|
15 |
40915894 |
1 |
KNL1 |
T |
C |
exonic |
synonymous SNV |
KNL1:NM_144508:exon10:c.T3432C:p.N1144N,KNL1:NM_170589:exon11:c.T3510C:p.N1170N |
RS11070285 |
Gene expression of MGC20481 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Chronic kidney
disease:Gene expression of CCDC32 in Cerebellum:Gene expression of CCDC32 in
peripheral blood monocytes:Gene expression of MRPL42P5 in peripheral blood
monocytes:Gene expression of ZFYVE19 in peripheral blood monocytes:Gene
expression of C15orf57 (ENSG00000128891) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of RPUSD2 (ENSG00000166133) in
dendritic cells treated with Mycobacterium tuberculosis: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 Alzheimer's disease cases and controls:Gene expression of
MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease
cases and controls:Years of education:Gene expression of C15orf57 (probeID
ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:College
completion |
|
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 |
41815516 |
2 |
RPAP1 |
G |
C |
exonic |
nonsynonymous SNV |
RPAP1:NM_015540:exon18:c.C2473G:p.Q825E |
|
15 |
41991315 |
2 |
MGA |
A |
T |
exonic |
nonsynonymous SNV |
MGA:NM_001080541:exon5:c.A2146T:p.T716S,MGA:NM_001164273:exon5:c.A2146T:p.T716S |
RS2178004 |
Gene expression of MGA [probe
230848_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Diastolic
blood pressure (DBP):Infant head circumference |
|
15 |
42105918 |
1 |
MAPKBP1 |
C |
G |
exonic |
nonsynonymous SNV |
MAPKBP1:NM_001265611:exon9:c.C919G:p.L307V,MAPKBP1:NM_014994:exon9:c.C919G:p.L307V,MAPKBP1:NM_001128608:exon10:c.C937G:p.L313V |
RS1201689 |
Triglycerides:HDL cholesterol:Years
of education |
|
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 |
42579948 |
2 |
GANC |
T |
C |
exonic |
synonymous SNV |
GANC:NM_198141:exon4:c.T261C:p.N87N,GANC:NM_001301409:exon5:c.T261C:p.N87N |
RS8037627 |
Urinary albumin-to-creatinine ratio |
|
15 |
43828387 |
1 |
PPIP5K1 |
C |
T |
exonic |
nonsynonymous SNV |
PPIP5K1:NM_001190214:exon29:c.G3364A:p.A1122T |
|
15 |
43873489 |
1 |
PPIP5K1 |
C |
T |
exonic |
nonsynonymous SNV |
PPIP5K1:NM_001130859:exon8:c.G875A:p.R292Q,PPIP5K1:NM_014659:exon8:c.G875A:p.R292Q,PPIP5K1:NM_001130858:exon9:c.G875A:p.R292Q,PPIP5K1:NM_001190214:exon9:c.G875A:p.R292Q |
|
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 |
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 |
48443699 |
2 |
MYEF2 |
T |
C |
exonic |
nonsynonymous SNV |
MYEF2:NM_001301210:exon13:c.A1277G:p.Q426R,MYEF2:NM_016132:exon13:c.A1277G:p.Q426R |
|
15 |
48460314 |
2 |
|
15 |
48460927 |
2 |
MYEF2 |
C |
T |
exonic |
nonsynonymous SNV |
MYEF2:NM_001301210:exon2:c.G271A:p.A91T,MYEF2:NM_016132:exon2:c.G271A:p.A91T |
|
15 |
48807637 |
2 |
FBN1 |
C |
T |
exonic |
nonsynonymous SNV |
FBN1:NM_000138:exon12:c.G1415A:p.C472Y |
|
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 |
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 |
50867082 |
2 |
TRPM7 |
G |
A |
exonic |
synonymous SNV |
TRPM7:NM_001301212:exon34:c.C4983T:p.Y1661Y,TRPM7:NM_017672:exon34:c.C4986T:p.Y1662Y |
RS473357 |
LDL cholesterol change with
statins:Total cholesterol change with statins:HDL
cholesterol:Height:Resistance to kuru in aged women despite likely
exposure:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Years of education:Aortic valve
calcium:Advanced age-related macular degeneration |
|
15 |
51217361 |
2 |
AP4E1 |
T |
C |
exonic |
nonsynonymous SNV |
AP4E1:NM_001252127:exon5:c.T262C:p.C88R,AP4E1:NM_007347:exon5:c.T487C:p.C163R |
RS2306331 |
Eye color:Alzheimer's
disease:Autism:Height:Waist hip ratio:Microalbuminuria:Gene expression of
AC012100.1 in blood:Gene expression of AP4E1 in blood:Gene expression of
AP4E1 (ENSG00000081014) in dendritic cells:Infant head circumference:Advanced
age-related macular degeneration:Years of education:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Gene
expression of AP4E1 (ENSG00000081014) in dendritic cells treated with
Mycobacterium tuberculosis |
|
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 |
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 |
52667552 |
2 |
MYO5A |
G |
A |
exonic |
synonymous SNV |
MYO5A:NM_000259:exon20:c.C2526T:p.I842I,MYO5A:NM_001142495:exon20:c.C2526T:p.I842I |
RS2414145 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
15 |
52689526 |
2 |
MYO5A |
T |
C |
exonic |
synonymous SNV |
MYO5A:NM_000259:exon10:c.A1191G:p.T397T,MYO5A:NM_001142495:exon10:c.A1191G:p.T397T |
RS2924130 |
Salmonella-induced pyroptosis |
|
15 |
52689631 |
2 |
MYO5A |
T |
G |
exonic |
nonsynonymous SNV |
MYO5A:NM_000259:exon10:c.A1086C:p.E362D,MYO5A:NM_001142495:exon10:c.A1086C:p.E362D |
|
15 |
56386577 |
2 |
RFX7 |
T |
G |
exonic |
nonsynonymous SNV |
RFX7:NM_022841:exon9:c.A3349C:p.N1117H |
|
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 |
56923714 |
2 |
ZNF280D |
G |
A |
exonic |
synonymous SNV |
ZNF280D:NM_001002843:exon21:c.C2883T:p.D961D,ZNF280D:NM_001288588:exon22:c.C2922T:p.D974D,ZNF280D:NM_017661:exon22:c.C2922T:p.D974D |
|
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 |
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 |
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 |
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 |
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 |
64915106 |
2 |
ZNF609 |
C |
T |
exonic |
synonymous SNV |
ZNF609:NM_015042:exon2:c.C828T:p.P276P |
|
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 |
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 |
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 |
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 |
68583175 |
2 |
FEM1B |
T |
C |
exonic |
synonymous SNV |
FEM1B:NM_015322:exon2:c.T1479C:p.N493N |
|
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 |
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 |
71184278 |
1 |
THAP10 |
G |
T |
exonic |
synonymous SNV |
THAP10:NM_020147:exon1:c.C334A:p.R112R |
|
15 |
71184495 |
1 |
THAP10 |
A |
G |
exonic |
synonymous SNV |
THAP10:NM_020147:exon1:c.T117C:p.G39G |
RS2955035 |
Total cholesterol:LDL
cholesterol:LDL cholesterol change with statins:Advanced age-related macular
degeneration:Mitral annular calcium |
|
15 |
72191266 |
2 |
MYO9A |
C |
T |
exonic |
nonsynonymous SNV |
MYO9A:NM_006901:exon25:c.G3578A:p.G1193E |
RS2415129 |
Triglycerides:HOMA-B:Fasting
insulin:Disease-free survival in gastric cancer patients |
|
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 |
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 |
73067234 |
2 |
ADPGK |
T |
C |
exonic |
synonymous SNV |
ADPGK:NM_031284:exon2:c.A438G:p.A146A |
RS11634630 |
Illegal drug dependence |
|
15 |
73541513 |
1 |
NEO1 |
A |
G |
exonic |
synonymous SNV |
NEO1:NM_001172623:exon10:c.A1719G:p.K573K,NEO1:NM_001172624:exon10:c.A1719G:p.K573K,NEO1:NM_002499:exon10:c.A1719G:p.K573K |
RS3736510 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Transmission distortion:Infant
head circumference |
|
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 |
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 |
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 |
77298857 |
2 |
|
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 |
77407114 |
1 |
PEAK1 |
C |
G |
exonic |
nonsynonymous SNV |
PEAK1:NM_024776:exon8:c.G4625C:p.S1542T |
RS1867780 |
Rheumatoid arthritis:Height:Waist
hip ratio |
|
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 |
79058572 |
2 |
ADAMTS7 |
T |
G |
exonic |
synonymous SNV |
ADAMTS7:NM_014272:exon19:c.A3681C:p.R1227R |
RS1809421 |
Triglycerides:LDL cholesterol:Total
cholesterol:Cystatin C in serum:Triglycerides:Diastolic blood pressure
(DBP):Coronary artery disease (CAD) |
|
15 |
79089007 |
2 |
ADAMTS7 |
T |
C |
exonic |
synonymous SNV |
ADAMTS7:NM_014272:exon4:c.A744G:p.V248V |
RS3743057 |
Lung cancer:Nicotine dependence
(smoking), cigarettes per day:Gene expression of CTSH in blood:Tetrology of
fallot:Refractive error |
|
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 |
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 |
80987812 |
2 |
ABHD17C |
T |
C |
exonic |
synonymous SNV |
ABHD17C:NM_021214:exon1:c.T42C:p.G14G |
|
15 |
83224696 |
2 |
CPEB1 |
C |
T |
exonic |
synonymous SNV |
CPEB1:NM_001079535:exon3:c.G558A:p.P186P,CPEB1:NM_001288820:exon3:c.G105A:p.P35P,CPEB1:NM_001079533:exon4:c.G558A:p.P186P,CPEB1:NM_001079534:exon4:c.G558A:p.P186P,CPEB1:NM_001288819:exon5:c.G558A:p.P186P,CPEB1:NM_030594:exon5:c.G783A:p.P261P |
|
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 |
84842857 |
1 |
UBE2Q2L |
T |
C |
exonic |
nonsynonymous SNV |
UBE2Q2L:NM_001243531:exon2:c.T182C:p.I61T |
|
15 |
85149771 |
2 |
ZSCAN2 |
G |
T |
exonic |
nonsynonymous SNV |
ZSCAN2:NM_017894:exon3:c.G418T:p.V140F |
RS2271433 |
Differential exon level expression
of FLJ43276 [probe 3636887] in brain cortex:HDL cholesterol change with
statins:Gene expression of WDR73 in CD4+ lymphocytes:Gene expression of
AC115102.7///SEC11B in blood:Gene expression of WDR73 in blood |
|
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 |
85188994 |
2 |
WDR73 |
T |
C |
exonic |
synonymous SNV |
WDR73:NM_032856:exon7:c.A591G:p.S197S |
|
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 |
89804043 |
1 |
FANCI |
C |
T |
exonic |
nonsynonymous SNV |
FANCI:NM_001113378:exon4:c.C257T:p.A86V,FANCI:NM_018193:exon4:c.C257T:p.A86V |
RS17803620 |
Height:Suicide attempts in bipolar
disorder (substance free):Birth weight:Advanced age-related macular
degeneration |
|
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 |
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 |
90196008 |
1 |
KIF7 |
C |
T |
exonic |
nonsynonymous SNV |
KIF7:NM_198525:exon2:c.G154A:p.D52N |
|
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 |
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 |
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 |
90784250 |
2 |
GDPGP1 |
T |
C |
exonic |
nonsynonymous SNV |
GDPGP1:NM_001013657:exon4:c.T110C:p.M37T,GDPGP1:NM_001322811:exon5:c.T110C:p.M37T |
RS7171194 |
Rheumatoid arthritis:Partial
epilepsy:Body mass index (BMI):Gene expression of SEMA4B///CIB1 in blood:Gene
expression of C15orf58 in blood:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
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 |
91346923 |
1 |
BLM |
C |
A |
exonic |
synonymous SNV |
BLM:NM_000057:exon18:c.C3531A:p.A1177A,BLM:NM_001287248:exon18:c.C2406A:p.A802A,BLM:NM_001287246:exon19:c.C3531A:p.A1177A |
RS2227934 |
Salmonella-induced pyroptosis |
|
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 |
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 |
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 |
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 |
93521604 |
2 |
CHD2 |
A |
G |
exonic |
synonymous SNV |
CHD2:NM_001271:exon21:c.A2718G:p.Q906Q |
RS11074121 |
Total cholesterol change with
statins:Rheumatoid arthritis:Total cholesterol:College completion |
|
15 |
99670989 |
2 |
SYNM |
T |
C |
exonic |
unknown |
UNKNOWN |
RS3743248 |
Cystatin C in serum:Birth
weight:Mitral annular calcium |
|
15 |
99671760 |
2 |
SYNM |
T |
C |
exonic |
unknown |
UNKNOWN |
RS260087 |
Mitral annular calcium |
|
15 |
99672722 |
2 |
SYNM |
A |
G |
exonic |
unknown |
UNKNOWN |
RS2292288 |
Gene expression of DMN in CD4+
lymphocytes:Tetrology of fallot:Transmission distortion:Mitral annular
calcium:Refractive error |
|
15 |
99715352 |
2 |
TTC23 |
A |
G |
exonic |
synonymous SNV |
TTC23:NM_001288616:exon8:c.T768C:p.L256L,TTC23:NM_001288615:exon10:c.T768C:p.L256L |
RS2602016 |
Cystatin C in serum:Gene expression
of LRRC28 in peripheral blood monocytes:Gene expression of TTC23 in
peripheral blood monocytes:Birth weight:Mitral annular calcium |
|
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 |
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 |
129147079 |
2 |
|
16 |
103517 |
2 |
POLR3K |
A |
C |
exonic |
nonsynonymous SNV |
POLR3K:NM_016310:exon1:c.T70G:p.S24A |
|
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 |
1260481 |
2 |
CACNA1H |
T |
C |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon19:c.T3957C:p.D1319D,CACNA1H:NM_021098:exon19:c.T3957C:p.D1319D |
RS8063574 |
Prostate cancer |
|
16 |
1261282 |
2 |
CACNA1H |
T |
C |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon22:c.T4338C:p.I1446I,CACNA1H:NM_021098:exon22:c.T4338C:p.I1446I |
RS4984637 |
Gene expression of TPSG1 in normal
prepouch ileum |
|
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 |
1503879 |
2 |
CLCN7 |
T |
A |
exonic |
synonymous SNV |
CLCN7:NM_001114331:exon13:c.A1098T:p.A366A,CLCN7:NM_001287:exon14:c.A1170T:p.A390A |
RS2235579 |
HOMA-B:Fasting insulin |
|
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 |
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 |
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 |
2150481 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon27:c.C9484T:p.R3162C,PKD1:NM_001009944:exon27:c.C9484T:p.R3162C |
|
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 |
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 |
2152397 |
1 |
PKD1 |
G |
T |
exonic |
synonymous SNV |
PKD1:NM_000296:exon25:c.C9186A:p.V3062V,PKD1:NM_001009944:exon25:c.C9186A:p.V3062V |
|
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 |
2153823 |
1 |
PKD1 |
A |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon23:c.T8235G:p.S2745S,PKD1:NM_001009944:exon23:c.T8235G:p.S2745S |
|
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 |
2158277 |
1 |
PKD1 |
G |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.C6891G:p.H2297Q,PKD1:NM_001009944:exon15:c.C6891G:p.H2297Q |
|
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 |
2158389 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T6779C:p.I2260T,PKD1:NM_001009944:exon15:c.T6779C:p.I2260T |
|
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 |
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 |
2160094 |
1 |
PKD1 |
T |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A5074T:p.T1692S,PKD1:NM_001009944:exon15:c.A5074T:p.T1692S |
|
16 |
2160108 |
1 |
PKD1 |
A |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.T5060C:p.V1687A,PKD1:NM_001009944:exon15:c.T5060C:p.V1687A |
|
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 |
2160514 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G4654A:p.V1552I,PKD1:NM_001009944:exon15:c.G4654A:p.V1552I |
|
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 |
2161062 |
1 |
PKD1 |
T |
C |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.A4106G:p.H1369R,PKD1:NM_001009944:exon15:c.A4106G:p.H1369R |
|
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 |
2161153 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon15:c.G4015A:p.V1339M,PKD1:NM_001009944:exon15:c.G4015A:p.V1339M |
|
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 |
2161271 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.T3897C:p.V1299V,PKD1:NM_001009944:exon15:c.T3897C:p.V1299V |
|
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 |
2167044 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon7:c.G1396A:p.V466M,PKD1:NM_001009944:exon7:c.G1396A:p.V466M |
|
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 |
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 |
2168135 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.T858C:p.S286S,PKD1:NM_001009944:exon5:c.T858C:p.S286S |
|
16 |
2168144 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.T849C:p.P283P,PKD1:NM_001009944:exon5:c.T849C:p.P283P |
|
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 |
2168212 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.G781A:p.G261S,PKD1:NM_001009944:exon5:c.G781A:p.G261S |
|
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 |
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 |
2185569 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon1:c.C122T:p.P41L,PKD1:NM_001009944:exon1:c.C122T:p.P41L |
|
16 |
2185595 |
2 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon1:c.C96T:p.P32P,PKD1:NM_001009944:exon1:c.C96T:p.P32P |
|
16 |
2331430 |
2 |
ABCA3 |
A |
G |
exonic |
synonymous SNV |
ABCA3:NM_001089:exon27:c.T4116C:p.S1372S |
|
16 |
2815237 |
2 |
SRRM2 |
A |
C |
exonic |
synonymous SNV |
SRRM2:NM_016333:exon11:c.A4708C:p.R1570R |
RS3094773 |
Stabilized warfarin dose |
|
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 |
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 |
4027605 |
2 |
ADCY9 |
C |
T |
exonic |
synonymous SNV |
ADCY9:NM_001116:exon9:c.G2706A:p.A902A |
RS2240735 |
LDL cholesterol:Height:Obesity
(body mass index (BMI)):Body mass index (BMI):Red blood cell traits
(combined):Bronchodilator response in asthma:Aortic valve calcium |
|
16 |
4165432 |
2 |
ADCY9 |
T |
C |
exonic |
synonymous SNV |
ADCY9:NM_001116:exon2:c.A12G:p.P4P |
|
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 |
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 |
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 |
11940390 |
2 |
RSL1D1 |
T |
C |
exonic |
synonymous SNV |
RSL1D1:NM_015659:exon5:c.A603G:p.T201T |
|
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 |
15042814 |
1 |
NPIPA1 |
T |
C |
exonic |
synonymous SNV |
NPIPA1:NM_006985:exon5:c.T465C:p.R155R |
|
16 |
16271357 |
2 |
ABCC6 |
T |
C |
exonic |
nonsynonymous SNV |
ABCC6:NM_001171:exon19:c.A2542G:p.M848V |
|
16 |
18823379 |
2 |
SMG1 |
T |
C |
exonic |
synonymous SNV |
SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q |
|
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 |
20855309 |
2 |
REXO5 |
A |
G |
exonic |
synonymous SNV |
REXO5:NM_001199053:exon16:c.A1680G:p.E560E,REXO5:NM_030941:exon16:c.A1680G:p.E560E |
RS9929443 |
Rheumatoid arthritis |
|
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 |
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 |
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 |
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 |
30236878 |
2 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
54318528 |
2 |
IRX3 |
A |
G |
exonic |
nonsynonymous SNV |
IRX3:NM_024336:exon2:c.T1265C:p.L422P |
|
16 |
55523705 |
2 |
MMP2 |
T |
C |
exonic |
synonymous SNV |
MMP2:NM_001127891:exon7:c.T999C:p.D333D,MMP2:NM_001302508:exon7:c.T921C:p.D307D,MMP2:NM_001302509:exon7:c.T921C:p.D307D,MMP2:NM_001302510:exon7:c.T921C:p.D307D,MMP2:NM_004530:exon7:c.T1149C:p.D383D |
RS243849 |
Fasting blood glucose:HDL
cholesterol:Gene expression of LPCAT2 in peripheral blood monocytes:Bipolar
disorder:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
16 |
56548501 |
2 |
BBS2 |
C |
T |
exonic |
nonsynonymous SNV |
BBS2:NM_031885:exon2:c.G209A:p.S70N |
|
16 |
56855496 |
2 |
NUP93 |
C |
G |
exonic |
synonymous SNV |
NUP93:NM_001242795:exon5:c.C276G:p.L92L,NUP93:NM_001242796:exon5:c.C276G:p.L92L,NUP93:NM_014669:exon7:c.C645G:p.L215L |
RS2118017 |
HDL cholesterol:Gene expression of
MED29 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Diastolic
blood pressure (DBP) |
|
16 |
57060340 |
1 |
NLRC5 |
T |
C |
exonic |
synonymous SNV |
NLRC5:NM_032206:exon5:c.T1485C:p.T495T,NLRC5:NM_001330552:exon6:c.T1485C:p.T495T |
|
16 |
57562804 |
2 |
CCDC102A |
G |
A |
exonic |
nonsynonymous SNV |
CCDC102A:NM_033212:exon2:c.C286T:p.R96W |
|
16 |
57619648 |
2 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
71509796 |
2 |
ZNF19 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF19:NM_006961:exon6:c.G654C:p.Q218H |
RS8050871 |
HDL cholesterol:Waist hip ratio |
|
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 |
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 |
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 |
81050965 |
2 |
CENPN |
A |
T |
exonic |
nonsynonymous SNV |
CENPN:NM_001100624:exon4:c.A252T:p.E84D,CENPN:NM_001100625:exon4:c.A252T:p.E84D,CENPN:NM_001270474:exon4:c.A252T:p.E84D,CENPN:NM_018455:exon4:c.A252T:p.E84D |
|
16 |
81157324 |
2 |
PKD1L2 |
G |
A |
exonic |
unknown |
UNKNOWN |
RS4889241 |
Partial epilepsy |
|
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 |
84516309 |
2 |
TLDC1 |
G |
A |
exonic |
synonymous SNV |
TLDC1:NM_020947:exon6:c.C966T:p.N322N |
RS433293 |
Serum creatinine |
|
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 |
84522897 |
2 |
TLDC1 |
G |
C |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon4:c.C516G:p.D172E |
RS436278 |
Tardive dyskinesia:Serum creatinine |
|
16 |
84808824 |
2 |
USP10 |
C |
G |
exonic |
synonymous SNV |
USP10:NM_005153:exon13:c.C2202G:p.L734L,USP10:NM_001272075:exon14:c.C2214G:p.L738L |
RS774298 |
Methylation levels at
chr5:176951869-176951919 [hg18 coord, probe cg06665799] in Caudal
pons:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
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 |
87446053 |
2 |
ZCCHC14 |
G |
A |
exonic |
synonymous SNV |
ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A |
RS2042395 |
Years of education:College
completion |
|
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 |
88600079 |
2 |
ZFPM1 |
C |
G |
exonic |
synonymous SNV |
ZFPM1:NM_153813:exon10:c.C1713G:p.P571P |
|
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 |
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 |
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 |
88783521 |
2 |
PIEZO1 |
T |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P |
|
16 |
88787704 |
2 |
PIEZO1 |
G |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A |
|
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 |
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 |
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 |
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 |
89293614 |
2 |
ZNF778 |
A |
G |
exonic |
synonymous SNV |
ZNF778:NM_182531:exon6:c.A834G:p.E278E,ZNF778:NM_001201407:exon7:c.A918G:p.E306E |
RS4785626 |
Differential exon level expression
of ZNF778 [probe 3673937] in brain cortex:HDL cholesterol |
|
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 |
89294381 |
2 |
ZNF778 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF778:NM_182531:exon6:c.T1601C:p.I534T,ZNF778:NM_001201407:exon7:c.T1685C:p.I562T |
|
16 |
89294511 |
2 |
ZNF778 |
C |
T |
exonic |
synonymous SNV |
ZNF778:NM_182531:exon6:c.C1731T:p.T577T,ZNF778:NM_001201407:exon7:c.C1815T:p.T605T |
|
16 |
89662990 |
2 |
CPNE7 |
T |
C |
exonic |
synonymous SNV |
CPNE7:NM_153636:exon15:c.T1638C:p.G546G,CPNE7:NM_014427:exon17:c.T1863C:p.G621G |
|
16 |
89783187 |
2 |
VPS9D1 |
C |
T |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon3:c.G219A:p.K73K |
|
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 |
|
17 |
465775 |
1 |
VPS53 |
G |
A |
exonic |
synonymous SNV |
VPS53:NM_018289:exon13:c.C1437T:p.Y479Y,VPS53:NM_001128159:exon14:c.C1524T:p.Y508Y |
RS2075443 |
Gene expression of C17orf97 in
blood:Gene expression of VPS53 in blood:Age at death with kuru
exposure:Variant Creutzfeldt-Jakob disease:Transmission distortion:hsa-miR-22
miRNA expression in lymphoblastoid cell lines |
|
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 |
649935 |
2 |
GEMIN4 |
G |
C |
exonic |
nonsynonymous SNV |
GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E |
RS2740348 |
Comorbid depressive syndrome and
alcohol dependence |
|
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 |
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 |
1611433 |
2 |
TLCD2 |
A |
G |
exonic |
synonymous SNV |
TLCD2:NM_001164407:exon4:c.T426C:p.S142S |
RS4790809 |
PROP taste detection
threshold:Salmonella-induced pyroptosis |
|
17 |
1630992 |
1 |
WDR81 |
G |
A |
exonic |
synonymous SNV |
WDR81:NM_001163809:exon1:c.G2739A:p.L913L |
RS9912287 |
Triglycerides:Total
cholesterol:Serum calcium:Body mass index (BMI):Microalbuminuria:Adiponectin
levels:Gene expression of SERPINF2 (ENSG00000167711) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression change of SERPINF2
(ENSG00000167711) in dendritic cells after treatment with Mycobacterium
tuberculosis:Advanced age-related macular degeneration (geographic atrophy) |
|
17 |
1637074 |
1 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.A1134G:p.P378P,WDR81:NM_001163809:exon7:c.A4743G:p.P1581P,WDR81:NM_001163811:exon7:c.A1062G:p.P354P,WDR81:NM_152348:exon8:c.A1590G:p.P530P |
RS3809871 |
Height:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Adiponectin levels |
|
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 |
1637458 |
1 |
WDR81 |
G |
A |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.G1518A:p.P506P,WDR81:NM_001163809:exon7:c.G5127A:p.P1709P,WDR81:NM_001163811:exon7:c.G1446A:p.P482P,WDR81:NM_152348:exon8:c.G1974A:p.P658P |
RS8065251 |
Triglycerides:Total
cholesterol:Serum calcium:Body mass index (BMI):Microalbuminuria:Adiponectin
levels:Advanced age-related macular degeneration (geographic atrophy) |
|
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 |
1640793 |
1 |
WDR81 |
C |
T |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon10:c.C2031T:p.S677S,WDR81:NM_001163809:exon10:c.C5640T:p.S1880S,WDR81:NM_001163811:exon10:c.C1959T:p.S653S,WDR81:NM_152348:exon11:c.C2487T:p.S829S |
RS8077638 |
Triglycerides:Total
cholesterol:Serum calcium:Cerebrospinal fluid levels of Phosphorylated tau
protein (P-tau181p) (Mild cognitive impairment subjects):Beta-amyloid peptide
(Abeta1-42) in cerebrospinal fliud in mild cognitive impairment subjects:Body
mass index (BMI):Neuroblastoma (brain cancer):Microalbuminuria:Advanced
age-related macular degeneration (geographic atrophy):Adiponectin levels |
|
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 |
2186100 |
1 |
SMG6 |
C |
T |
exonic |
synonymous SNV |
SMG6:NM_017575:exon8:c.G2502A:p.Q834Q |
RS749240 |
Gene expression of SRR [probe
219205_at] in lymphoblastoid cell lines:Aortic root size:Total
cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Body mass index
(BMI):Mitral annular calcium:Obesity with early age of onset (age
>2):Parkinson's disease:Behcet's disease |
|
17 |
2202943 |
1 |
SMG6 |
T |
C |
exonic |
synonymous SNV |
SMG6:NM_017575:exon2:c.A1104G:p.S368S |
RS216196 |
Aortic root size:Left atrial size
(LA size):Serum creatinine:Body mass index (BMI):Coronary artery disease
(CAD):Gene expression of SRR (probeID ILMN_1753515) in temporal cortex in
Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of
SRR (probeID ILMN_1753515) in cerebellum in Alzheimer's disease cases and
controls:Coronary artery disease (CAD) |
|
17 |
2203167 |
1 |
SMG6 |
T |
G |
exonic |
nonsynonymous SNV |
SMG6:NM_017575:exon2:c.A880C:p.K294Q |
RS216195 |
Aortic root size:Total
cholesterol:LDL cholesterol:Gene expression of SRR in CD4+
lymphocytes:Neuroblastoma (brain cancer):Systolic blood pressure (SBP):Gene
expression of SRR (probeID ILMN_1753515) in cerebellum in Alzheimer's disease
cases and controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of SRR (probeID ILMN_1753515)
in temporal cortex in Alzheimer's disease cases and controls:College
completion:Parkinson's disease:Hypertension (early onset hypertension):Aortic
valve calcium |
|
17 |
2203453 |
1 |
SMG6 |
A |
G |
exonic |
synonymous SNV |
SMG6:NM_017575:exon2:c.T594C:p.A198A |
RS216193 |
Gene expression of SRR [probe
219205_at] in lymphoblastoid cell lines:HDL cholesterol:Aortic root size:Type
2 diabetes:Total cholesterol:LDL cholesterol:Total cholesterol:HDL
cholesterol:Body mass index (BMI):PROP taste detection threshold:Mitral
annular calcium:Gene expression of SRR in normal prepouch ileum:Obesity with
early age of onset (age >2):Blood pressure response to candesartan
treatment:Gene expression change of SMG6 (ENSG00000070366) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
17 |
2266799 |
1 |
SGSM2 |
G |
A |
exonic |
nonsynonymous SNV |
SGSM2:NM_001098509:exon7:c.G713A:p.R238K,SGSM2:NM_001346700:exon7:c.G713A:p.R238K,SGSM2:NM_014853:exon7:c.G713A:p.R238K |
RS745400 |
HDL cholesterol:Neuroblastoma
(brain cancer):Gene expression of SGSM2 in blood:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels |
|
17 |
2266812 |
1 |
SGSM2 |
T |
C |
exonic |
synonymous SNV |
SGSM2:NM_001098509:exon7:c.T726C:p.C242C,SGSM2:NM_001346700:exon7:c.T726C:p.C242C,SGSM2:NM_014853:exon7:c.T726C:p.C242C |
|
17 |
2268311 |
1 |
SGSM2 |
G |
A |
exonic |
nonsynonymous SNV |
SGSM2:NM_001098509:exon10:c.G1121A:p.R374Q,SGSM2:NM_001346700:exon10:c.G1121A:p.R374Q,SGSM2:NM_014853:exon10:c.G1121A:p.R374Q |
RS2248821 |
HOMA-IR:Fasting insulin:HDL
cholesterol:Total cholesterol:HDL cholesterol:Total cholesterol:Systolic
blood pressure (SBP):Gene expression of TSR1 (ENSG00000167721) in dendritic
cells:Mitral annular calcium:Obesity with early age of onset (age >2):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
17 |
2595964 |
1 |
CLUH |
G |
A |
exonic |
synonymous SNV |
CLUH:NM_015229:exon21:c.C3222T:p.A1074A |
|
17 |
2606715 |
1 |
CLUH |
G |
A |
exonic |
synonymous SNV |
CLUH:NM_015229:exon3:c.C258T:p.R86R |
|
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 |
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 |
4497160 |
2 |
SMTNL2 |
T |
C |
exonic |
synonymous SNV |
SMTNL2:NM_001114974:exon4:c.T774C:p.Y258Y,SMTNL2:NM_198501:exon4:c.T342C:p.Y114Y |
RS8080130 |
Gene expression of MYBBP1A [probe
3742130] in peripheral blood mononuclear cells:Fasting blood
glucose:Rheumatoid arthritis:Triglycerides:Asthma:Sporadic Creutzfeldt-Jakob
disease:Parkinson's disease |
|
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 |
4718776 |
2 |
PLD2 |
G |
A |
exonic |
synonymous SNV |
PLD2:NM_001243108:exon13:c.G1179A:p.E393E,PLD2:NM_002663:exon13:c.G1179A:p.E393E |
|
17 |
7129840 |
1 |
DVL2 |
T |
C |
exonic |
synonymous SNV |
DVL2:NM_004422:exon14:c.A1662G:p.Q554Q |
|
17 |
7132556 |
1 |
DVL2 |
C |
T |
exonic |
synonymous SNV |
DVL2:NM_004422:exon8:c.G855A:p.Q285Q |
RS222837 |
Gene expression of DERP6 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C17orf81 in
lymphoblastoid cell lines:Differential exon level expression of C17orf81
[probe 3708392] in peripheral blood mononuclear cells:Fasting blood
glucose:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Gene
expression of C17orf81 [probeset 219260_s_at] in sputum:Gene expression of
C17orf81 in normal prepouch ileum:Adiponectin levels:Gene expression of DLG4
(probeID ILMN_1768595) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of CLDN7 in normal prepouch ileum:Birth weight:Gene
expression of DLG4 (probeID ILMN_1768595) in cerebellum in Alzheimer's
disease cases and controls |
|
17 |
7133162 |
1 |
DVL2 |
G |
A |
exonic |
synonymous SNV |
DVL2:NM_004422:exon5:c.C621T:p.S207S |
RS222836 |
Gene expression of C17orf81 [probe
223286_at] in lymphoblastoid cell lines:Gene expression of C17orf81 [probe
219260_s_at] in lymphoblastoid cell lines:Gene expression of C17orf81 in
normal prepouch ileum:Gene expression of CLDN7 in normal prepouch ileum:Gene
expression of DLG4 (probeID ILMN_1768595) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of DLG4 (probeID ILMN_1768595) in
cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Birth
weight |
|
17 |
7154534 |
1 |
CTDNEP1 |
G |
A |
exonic |
synonymous SNV |
CTDNEP1:NM_001143775:exon1:c.C82T:p.L28L,CTDNEP1:NM_015343:exon2:c.C82T:p.L28L |
|
17 |
7230845 |
1 |
NEURL4 |
G |
T |
exonic |
nonsynonymous SNV |
NEURL4:NM_001005408:exon2:c.C641A:p.P214H,NEURL4:NM_032442:exon2:c.C641A:p.P214H |
|
17 |
7286266 |
1 |
TNK1 |
C |
T |
exonic |
synonymous SNV |
TNK1:NM_001251902:exon2:c.C21T:p.S7S,TNK1:NM_003985:exon2:c.C21T:p.S7S |
RS1554947 |
Fasting
insulin:HOMA-IR:HOMA-B:Total cholesterol change with statins:LDL cholesterol
change with statins:Chronic kidney disease:Methylation levels at
chr17:7224773-7224823 [hg18 coord, probe cg18632631] in
Cerebellum:Methylation levels at chr17:7224773-7224823 [hg18 coord, probe
cg18632631] in Caudal pons |
|
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 |
7751388 |
1 |
KDM6B |
C |
A |
exonic |
synonymous SNV |
KDM6B:NM_001080424:exon11:c.C1782A:p.P594P,KDM6B:NM_001348716:exon11:c.C1782A:p.P594P |
|
17 |
7751751 |
1 |
KDM6B |
C |
T |
exonic |
synonymous SNV |
KDM6B:NM_001080424:exon11:c.C2145T:p.H715H,KDM6B:NM_001348716:exon11:c.C2145T:p.H715H |
|
17 |
7849087 |
1 |
CNTROB |
C |
G |
exonic |
synonymous SNV |
CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_001330124:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P |
RS4462665 |
Fasting blood glucose:Methylation
levels at chr17:7773204-7773254 [hg18 coord, probe cg03386903] in
Cerebellum:Body mass index (BMI):Diastolic blood pressure (DBP):Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
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 |
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 |
17046024 |
1 |
MPRIP |
C |
A |
exonic |
nonsynonymous SNV |
MPRIP:NM_015134:exon8:c.C980A:p.P327Q,MPRIP:NM_201274:exon8:c.C980A:p.P327Q |
RS3744137 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Differential exon level expression of
M-RIP [probe 3712429] in brain cortex:HOMA-B:Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Atopy:Allergic rhinitis:Gene expression of COPS3
in blood:Decrease in FEV1 (in nonasthmatic participants):Salmonella-induced
pyroptosis |
|
17 |
17062241 |
1 |
MPRIP |
C |
G |
exonic |
synonymous SNV |
MPRIP:NM_015134:exon14:c.C1971G:p.A657A,MPRIP:NM_201274:exon14:c.C1971G:p.A657A |
|
17 |
17168164 |
1 |
COPS3 |
G |
A |
exonic |
synonymous SNV |
COPS3:NM_001316358:exon4:c.C258T:p.I86I,COPS3:NM_001316356:exon5:c.C372T:p.I124I,COPS3:NM_001316357:exon5:c.C258T:p.I86I,COPS3:NM_001199125:exon6:c.C513T:p.I171I,COPS3:NM_001316354:exon6:c.C183T:p.I61I,COPS3:NM_001316355:exon6:c.C573T:p.I191I,COPS3:NM_003653:exon6:c.C573T:p.I191I |
RS3182911 |
Gene expression of BHD in
CEU-CHB-JPT lymphoblastoid cell lines:Irritible bowel syndrome:Differential
exon level expression of M-RIP [probe 3712429] in brain cortex:Total
cholesterol change with statins:LDL cholesterol change with statins:Chronic
kidney disease:Gene expression of NT5M in blood:Gene expression of FLCN in
blood:Gene expression of COPS3 in blood:Gene expression of AC055811.3 in
blood:Gene expression of [probe 6980148 centered at chr17:17065490] in
blood:Gene expression of FLCN (probeID ILMN_1814952) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of FLCN (probeID
ILMN_1814952) in cerebellum in Alzheimer's disease cases and
controls:Transmission distortion:Tetrology of fallot:Gene expression of FLCN
(probeID ILMN_1814952) in cerebellum in Alzheimer's disease cases:Gene
expression of FLCN (probeID ILMN_1814952) in cerebellum in non-Alzheimer's
disease samples |
|
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 |
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 |
18702220 |
1 |
TVP23B |
T |
C |
exonic |
synonymous SNV |
TVP23B:NM_001316923:exon4:c.T168C:p.A56A,TVP23B:NM_001316919:exon5:c.T234C:p.A78A,TVP23B:NM_001316920:exon5:c.T234C:p.A78A,TVP23B:NM_001316921:exon5:c.T234C:p.A78A,TVP23B:NM_001316922:exon5:c.T168C:p.A56A,TVP23B:NM_001316924:exon5:c.T426C:p.A142A,TVP23B:NM_016078:exon5:c.T426C:p.A142A |
RS8080471 |
Triglycerides:Biploar disorder
(bipolar schizoaffective disorder):Rheumatoid arthritis:Gene expression of
FAM18B2 in peripheral blood monocytes:Gene expression of PRPSAP2 in
peripheral blood monocytes:Height |
|
17 |
19458972 |
1 |
SLC47A1 |
C |
T |
exonic |
synonymous SNV |
SLC47A1:NM_018242:exon8:c.C708T:p.L236L |
|
17 |
19644472 |
1 |
ALDH3A1 |
A |
T |
exonic |
synonymous SNV |
ALDH3A1:NM_001135168:exon5:c.T741A:p.P247P,ALDH3A1:NM_001330150:exon5:c.T522A:p.P174P,ALDH3A1:NM_000691:exon6:c.T741A:p.P247P,ALDH3A1:NM_001135167:exon6:c.T741A:p.P247P |
|
17 |
25909850 |
1 |
KSR1 |
G |
T |
exonic |
synonymous SNV |
KSR1:NM_014238:exon5:c.G288T:p.L96L |
RS2293181 |
Longstanding arthritis:HDL
cholesterol change with statins:Gene expression of LGALS9 in blood:Sporadic
Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment |
|
17 |
26684394 |
2 |
POLDIP2 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
17 |
26684449 |
2 |
POLDIP2 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
17 |
27009749 |
1 |
SUPT6H |
C |
T |
exonic |
synonymous SNV |
SUPT6H:NM_003170:exon14:c.C1602T:p.G534G,SUPT6H:NM_001320755:exon15:c.C1602T:p.G534G |
RS12051648 |
Barnes Akathisia Rating
Scale:Simpson-Angus Scale:LDL cholesterol:Total
cholesterol:Height:Salmonella-induced pyroptosis:Years of education:Aortic
valve calcium |
|
17 |
27185827 |
1 |
ERAL1 |
C |
T |
exonic |
synonymous SNV |
ERAL1:NM_001317985:exon7:c.C942T:p.D314D,ERAL1:NM_005702:exon7:c.C945T:p.D315D |
RS2242345 |
Gene expression of ERAL1 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of ERAL1 probe
[GI_24307898-S] in brain cortex with no Alzheimer's interaction:Lp-PLA2
activity:Total cholesterol:LDL cholesterol:Presence of peripupillary
pigmented ring:Systolic blood pressure (SBP):Mean corpuscular hemoglobin
concentration (MCHC):Salmonella-induced pyroptosis:Years of education:Mean
corpuscular volume (MCV):Aortic valve calcium |
|
17 |
27835138 |
2 |
TAOK1 |
C |
T |
exonic |
synonymous SNV |
TAOK1:NM_020791:exon14:c.C1563T:p.A521A,TAOK1:NM_025142:exon14:c.C1563T:p.A521A |
RS508706 |
HDL cholesterol change with
statins:Cystatin C in serum:HDL cholesterol:Height:Body mass index
(BMI):Diastolic blood pressure (DBP):PROP taste detection threshold |
|
17 |
27904711 |
1 |
GIT1 |
G |
A |
exonic |
synonymous SNV |
GIT1:NM_014030:exon10:c.C933T:p.A311A,GIT1:NM_001085454:exon11:c.C960T:p.A320A |
|
17 |
29508775 |
2 |
NF1 |
G |
A |
exonic |
synonymous SNV |
NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L |
RS1801052 |
LDL cholesterol:Biploar disorder
(bipolar schizoaffective disorder):LDL cholesterol:Total cholesterol:Total
cholesterol:LDL cholesterol:Height:Waist hip ratio:Body mass index (BMI):Gene
expression of NF1 in normal prepouch ileum:Obesity with early age of onset
(age >2) |
|
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 |
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 |
33289046 |
1 |
ZNF830 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF830:NM_052857:exon1:c.G461C:p.S154T |
RS3744355 |
HDL cholesterol change with
statins:Total cholesterol change with statins:PROP taste detection
threshold:Obesity with early age of onset (age >2):College completion |
|
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 |
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 |
35609866 |
1 |
ACACA |
C |
T |
exonic |
synonymous SNV |
ACACA:NM_198837:exon13:c.G1638A:p.Q546Q,ACACA:NM_198838:exon14:c.G1578A:p.Q526Q,ACACA:NM_198834:exon15:c.G1923A:p.Q641Q,ACACA:NM_198836:exon15:c.G1812A:p.Q604Q,ACACA:NM_198839:exon19:c.G1812A:p.Q604Q |
|
17 |
35771468 |
2 |
TADA2A |
C |
T |
exonic |
nonsynonymous SNV |
TADA2A:NM_001166105:exon2:c.C16T:p.P6S,TADA2A:NM_001291918:exon2:c.C16T:p.P6S,TADA2A:NM_001488:exon2:c.C16T:p.P6S,TADA2A:NM_133439:exon2:c.C16T:p.P6S |
RS7211875 |
Gene expression of DUSP14 [probe
203367_at] in lymphoblastoid cell lines:Eye color:Gene expression of DUSP14
in blood cells in Celiac disease:Chronic kidney disease:Late onset
Alzheimer's disease:Gene expression of DUSP14 in blood:Advanced age-related
macular degeneration |
|
17 |
35984410 |
1 |
DDX52 |
T |
C |
exonic |
nonsynonymous SNV |
DDX52:NM_007010:exon9:c.A1207G:p.M403V,DDX52:NM_001291476:exon10:c.A883G:p.M295V |
RS7216445 |
Gene expression of DUSP14 in
blood:Gene expression of DDX52 in blood:Maternal transmission distortion:Gene
expression of DDX52 in normal prepouch ileum:Gene expression of DDX52
(ENSG00000141141) in dendritic cells treated with Mycobacterium tuberculosis |
|
17 |
35988672 |
1 |
DDX52 |
C |
T |
exonic |
synonymous SNV |
DDX52:NM_007010:exon6:c.G792A:p.R264R,DDX52:NM_001291476:exon7:c.G468A:p.R156R |
RS7224513 |
Gene expression of DDX52 in normal
prepouch ileum |
|
17 |
36646386 |
2 |
ARHGAP23 |
A |
G |
exonic |
synonymous SNV |
ARHGAP23:NM_001199417:exon18:c.A3030G:p.A1010A |
|
17 |
36666551 |
2 |
ARHGAP23 |
T |
C |
exonic |
synonymous SNV |
ARHGAP23:NM_001199417:exon24:c.T3819C:p.D1273D |
|
17 |
36861983 |
2 |
MLLT6 |
T |
C |
exonic |
nonsynonymous SNV |
MLLT6:NM_005937:exon1:c.T98C:p.V33A |
|
17 |
37830900 |
2 |
PGAP3 |
A |
G |
exonic |
synonymous SNV |
PGAP3:NM_001291726:exon3:c.T312C:p.V104V,PGAP3:NM_001291730:exon4:c.T465C:p.V155V,PGAP3:NM_033419:exon4:c.T465C:p.V155V |
RS2941504 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:HDL cholesterol:Major depressive
disorder:Serum creatinine:Rheumatoid arthritis:Gene expression of PERLD1 in
peripheral blood monocytes:Total cholesterol:HDL cholesterol:Severe
asthma:Asthma, childhood, later and unknown onset, and severe asthma:Asthma,
childhood, later and unknown onset, and severe and industrial asthma:Asthma,
childhood onset:Asthma, childhood and later
onset:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Pediatric
asthma:Gene expression of CRKRS in blood:Gene expression of ORMDL3 in
blood:Gene expression of PNMT///PERLD1 in blood:Gene expression of GSDMB in
blood:Asthma:Asthma (without atopy):Gene expression of PERLD1 in liver:Gene
expression of PGAP3 in normal prepouch ileum:Advanced age-related macular
degeneration:Gene expression of GSDMB in normal prepouch ileum:College
completion:Gene expression of GSDMB (probeID ILMN_1666206) in whole
blood:Advanced age-related macular degeneration (geographic atrophy):Years of
education |
17 |
37898543 |
2 |
GRB7 |
T |
C |
exonic |
nonsynonymous SNV |
GRB7:NM_001242442:exon2:c.T58C:p.C20R |
|
17 |
39674641 |
2 |
KRT15 |
T |
C |
exonic |
nonsynonymous SNV |
KRT15:NM_002275:exon1:c.A439G:p.T147A |
RS1050784 |
Arthritis including
non-Rheumatoid:Triglycerides:Eur students <30 Animals:Resistance to kuru
in aged women despite likely exposure |
|
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 |
39967442 |
1 |
P3H4 |
T |
C |
exonic |
nonsynonymous SNV |
P3H4:NM_006455:exon2:c.A557G:p.Q186R |
RS13412 |
Irritible bowel
syndrome:Schizophrenia:Triglycerides change with statins:HDL cholesterol:Gene
expression of EIF1 in liver:Gene expression of TTC25 in blood:Gene expression
of NT5C3L in blood:Obesity with early age of onset (age >2) |
|
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 |
40010979 |
2 |
KLHL11 |
G |
A |
exonic |
synonymous SNV |
KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y |
RS3744782 |
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:Advanced age-related macular
degeneration:Gene expression of NT5C3L in normal prepouch ileum:Gene expression
of NT5C3L (probeID ILMN_1750511) in whole blood:Refractive error |
|
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 |
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 |
40822678 |
1 |
PLEKHH3 |
C |
T |
exonic |
synonymous SNV |
PLEKHH3:NM_024927:exon10:c.G1467A:p.G489G |
RS2277618 |
Stabilized warfarin dose:Sporadic
Creutzfeldt-Jakob disease:Parkinson's disease:Primary rhegmatogenous retinal
detachment |
|
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 |
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 |
41959808 |
2 |
MPP2 |
T |
C |
exonic |
synonymous SNV |
MPP2:NM_001278371:exon5:c.A492G:p.Q164Q,MPP2:NM_001278373:exon5:c.A492G:p.Q164Q,MPP2:NM_001278374:exon5:c.A108G:p.Q36Q,MPP2:NM_001278375:exon5:c.A492G:p.Q164Q,MPP2:NM_001278376:exon5:c.A576G:p.Q192Q,MPP2:NM_001278370:exon6:c.A660G:p.Q220Q,MPP2:NM_005374:exon6:c.A525G:p.Q175Q,MPP2:NM_001278372:exon7:c.A597G:p.Q199Q,MPP2:NM_001278381:exon7:c.A525G:p.Q175Q |
RS124721 |
Triglycerides:HDL
cholesterol:HOMA-IR:Total cholesterol:Triglycerides:HDL cholesterol |
|
17 |
41960343 |
2 |
MPP2 |
T |
C |
exonic |
synonymous SNV |
MPP2:NM_001278371:exon4:c.A348G:p.T116T,MPP2:NM_001278373:exon4:c.A348G:p.T116T,MPP2:NM_001278375:exon4:c.A348G:p.T116T,MPP2:NM_001278376:exon4:c.A432G:p.T144T,MPP2:NM_001278370:exon5:c.A516G:p.T172T,MPP2:NM_005374:exon5:c.A381G:p.T127T,MPP2:NM_001278372:exon6:c.A453G:p.T151T,MPP2:NM_001278381:exon6:c.A381G:p.T127T |
RS124719 |
Stabilized warfarin
dose:Triglycerides:HDL cholesterol:HOMA-IR:Fasting insulin:Triglycerides:HDL
cholesterol:Asthma |
|
17 |
41960633 |
2 |
MPP2 |
C |
G |
exonic |
nonsynonymous SNV |
MPP2:NM_001278371:exon3:c.G208C:p.V70L,MPP2:NM_001278373:exon3:c.G208C:p.V70L,MPP2:NM_001278375:exon3:c.G208C:p.V70L,MPP2:NM_001278376:exon3:c.G292C:p.V98L,MPP2:NM_001278370:exon4:c.G376C:p.V126L,MPP2:NM_005374:exon4:c.G241C:p.V81L,MPP2:NM_001278372:exon5:c.G313C:p.V105L,MPP2:NM_001278381:exon5:c.G241C:p.V81L |
|
17 |
41960634 |
2 |
MPP2 |
G |
C |
exonic |
nonsynonymous SNV |
MPP2:NM_001278371:exon3:c.C207G:p.H69Q,MPP2:NM_001278373:exon3:c.C207G:p.H69Q,MPP2:NM_001278375:exon3:c.C207G:p.H69Q,MPP2:NM_001278376:exon3:c.C291G:p.H97Q,MPP2:NM_001278370:exon4:c.C375G:p.H125Q,MPP2:NM_005374:exon4:c.C240G:p.H80Q,MPP2:NM_001278372:exon5:c.C312G:p.H104Q,MPP2:NM_001278381:exon5:c.C240G:p.H80Q |
|
17 |
43318778 |
2 |
FMNL1 |
G |
C |
exonic |
synonymous SNV |
FMNL1:NM_005892:exon14:c.G1362C:p.G454G |
|
17 |
43318779 |
2 |
FMNL1 |
C |
G |
exonic |
nonsynonymous SNV |
FMNL1:NM_005892:exon14:c.C1363G:p.P455A |
|
17 |
43319770 |
1 |
FMNL1 |
C |
T |
exonic |
synonymous SNV |
FMNL1:NM_005892:exon16:c.C1948T:p.L650L |
RS1801353 |
HDL cholesterol:Body mass index
(BMI):Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Salmonella-induced pyroptosis |
|
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 |
43555472 |
1 |
PLEKHM1 |
C |
T |
exonic |
synonymous SNV |
PLEKHM1:NM_014798:exon3:c.G90A:p.Q30Q |
|
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 |
45656826 |
1 |
NPEPPS |
A |
G |
exonic |
synonymous SNV |
NPEPPS:NM_006310:exon4:c.A489G:p.K163K,NPEPPS:NM_001330257:exon5:c.A477G:p.K159K |
|
17 |
45786452 |
2 |
TBKBP1 |
C |
T |
exonic |
synonymous SNV |
TBKBP1:NM_014726:exon8:c.C1353T:p.H451H |
|
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 |
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 |
47039132 |
2 |
GIP |
T |
C |
exonic |
nonsynonymous SNV |
GIP:NM_004123:exon4:c.A307G:p.S103G |
RS2291725 |
Gene expression of probe
1560577_at in lymphoblastoid cell lines:Gene expression of UBE2Z [probe
236107_at] in lymphoblastoid cell lines:Type 2 diabetes:HDL
cholesterol:Differential exon level expression of UBE2Z [probe 3725496] in
peripheral blood mononuclear cells:Gene expression of GIP in
Fibroblasts:Barnes Akathisia Rating Scale:Tardive
dyskinesia:Height:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine
ratio:Late onset Alzheimer's disease:Gene expression of ATP5G1 in blood:Gene
expression of UBE2Z in blood:Gene expression of UBE2Z (probeID ILMN_1692168)
in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
UBE2Z in normal prepouch ileum:Gene expression of ATP5G1 (probeID
ILMN_1712430) in cerebellum in Alzheimer's disease cases:Gene expression of
UBE2Z (probeID ILMN_1692168) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID
ILMN_1692168) in cerebellum in non-Alzheimer's disease samples:Gene
expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of UBE2Z (probeID ILMN_1692168) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
ATP5G1 (probeID ILMN_1712430) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum
in non-Alzheimer's disease samples:Gene expression of ATP5G1 (probeID
ILMN_1712430) in temporal cortex in Alzheimer's disease cases:Paternal
transmission distortion:Infant head circumference:Gene expression of UBE2Z
(probeID ILMN_1692168) in temporal cortex in Alzheimer's disease
cases:College completion:Years of education:Gene expression of ATP5G1
(probeID ILMN_1712430) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of UBE2Z (probeID
ILMN_1692168) in cerebellum in Alzheimer's disease cases |
|
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 |
48151353 |
1 |
ITGA3 |
T |
C |
exonic |
synonymous SNV |
ITGA3:NM_002204:exon8:c.T1230C:p.L410L |
RS2285524 |
LDL cholesterol:Total
cholesterol:Systolic blood pressure (SBP) |
|
17 |
48265495 |
2 |
COL1A1 |
T |
C |
exonic |
nonsynonymous SNV |
COL1A1:NM_000088:exon44:c.A3223G:p.T1075A |
RS1800215 |
Height:Advanced age-related macular
degeneration (geographic atrophy) |
|
17 |
48268223 |
2 |
COL1A1 |
A |
G |
exonic |
synonymous SNV |
COL1A1:NM_000088:exon33:c.T2298C:p.T766T |
|
17 |
48356260 |
2 |
TMEM92 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM92:NM_153229:exon4:c.G269C:p.S90T,TMEM92:NM_001168215:exon5:c.G269C:p.S90T |
|
17 |
48457722 |
1 |
EME1 |
G |
C |
exonic |
nonsynonymous SNV |
EME1:NM_001166131:exon8:c.G1435C:p.A479P,EME1:NM_152463:exon8:c.G1396C:p.A466P |
|
17 |
48557326 |
1 |
RSAD1 |
G |
A |
exonic |
nonsynonymous SNV |
RSAD1:NM_018346:exon3:c.G355A:p.A119T |
RS2290862 |
HDL cholesterol:HOMA-B:Fasting
insulin:Gene expression of CHAD in normal prepouch ileum:Stroke |
|
17 |
48557348 |
1 |
RSAD1 |
T |
C |
exonic |
nonsynonymous SNV |
RSAD1:NM_018346:exon3:c.T377C:p.L126S |
RS2290861 |
Gene expression of probe 231550_at
in lymphoblastoid cell lines:HOMA-B:Fasting insulin:HOMA-IR:Partial
epilepsy:Gene expression of ACSF2 in blood:Gene expression of SPATA20 in
blood:Gene expression of XYLT2 in blood:Gene expression of RSAD1 in
blood:Gene expression of CHAD (probeID ILMN_1700652) in cerebellum in
non-Alzheimer's disease samples:Gene expression of CHAD (probeID
ILMN_1700652) in cerebellum in Alzheimer's disease cases:Gene expression of
CHAD (probeID ILMN_1700652) in temporal cortex in Alzheimer's disease
cases:Gene expression of CHAD (probeID ILMN_1700652) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of CHAD (probeID
ILMN_1700652) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of CHAD (probeID ILMN_1700652) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of CHAD (probeID ILMN_1700652) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CHAD in
normal prepouch ileum |
|
17 |
53076799 |
2 |
STXBP4 |
G |
A |
exonic |
nonsynonymous SNV |
STXBP4:NM_178509:exon5:c.G274A:p.G92R |
RS1156287 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Triglycerides change with statins:Breast
cancer:Gene expression of TOM1L1 [probe ILMN_16672] in osteoblasts treated
with dexamethasone:Gene expression of COX11///TOM1L1 in blood:Diastolic blood
pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion:Gene expression of COX11 in
normal prepouch ileum:Refractive error |
|
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 |
54921494 |
2 |
DGKE |
A |
C |
exonic |
synonymous SNV |
DGKE:NM_003647:exon3:c.A579C:p.T193T |
RS3760158 |
LDL cholesterol:Height:PROP taste
detection threshold:Refractive error:Birth weight |
|
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 |
58786625 |
2 |
BCAS3 |
A |
G |
exonic |
nonsynonymous SNV |
BCAS3:NM_001099432:exon5:c.A260G:p.N87S,BCAS3:NM_001320470:exon5:c.A260G:p.N87S,BCAS3:NM_001330413:exon5:c.A260G:p.N87S,BCAS3:NM_001330414:exon5:c.A260G:p.N87S,BCAS3:NM_017679:exon5:c.A260G:p.N87S |
|
17 |
59485555 |
1 |
TBX2 |
C |
T |
exonic |
synonymous SNV |
TBX2:NM_005994:exon7:c.C1827T:p.S609S |
|
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 |
59969000 |
1 |
INTS2 |
T |
C |
exonic |
synonymous SNV |
INTS2:NM_001330417:exon14:c.A1749G:p.Q583Q,INTS2:NM_001351695:exon14:c.A1749G:p.Q583Q,INTS2:NM_020748:exon14:c.A1773G:p.Q591Q |
RS753765 |
Refractive error:Mitral annular
calcium |
|
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 |
60491184 |
2 |
EFCAB3 |
C |
T |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon9:c.C959T:p.T320I,EFCAB3:NM_001144933:exon11:c.C1115T:p.T372I |
|
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 |
60601613 |
1 |
TLK2 |
C |
G |
exonic |
nonsynonymous SNV |
TLK2:NM_001284333:exon6:c.C284G:p.A95G,TLK2:NM_006852:exon6:c.C284G:p.A95G |
|
17 |
60613663 |
1 |
TLK2 |
C |
T |
exonic |
stopgain |
TLK2:NM_001284363:exon5:c.C400T:p.Q134X,TLK2:NM_001284333:exon7:c.C496T:p.Q166X,TLK2:NM_001330418:exon7:c.C49T:p.Q17X,TLK2:NM_006852:exon7:c.C496T:p.Q166X |
|
17 |
60613669 |
1 |
TLK2 |
G |
A |
exonic |
nonsynonymous SNV |
TLK2:NM_001284363:exon5:c.G406A:p.G136R,TLK2:NM_001284333:exon7:c.G502A:p.G168R,TLK2:NM_001330418:exon7:c.G55A:p.G19R,TLK2:NM_006852:exon7:c.G502A:p.G168R |
|
17 |
60631078 |
1 |
TLK2 |
T |
C |
exonic |
synonymous SNV |
TLK2:NM_001284363:exon7:c.T586C:p.L196L,TLK2:NM_001284333:exon9:c.T682C:p.L228L,TLK2:NM_001330418:exon9:c.T235C:p.L79L,TLK2:NM_006852:exon9:c.T682C:p.L228L |
|
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 |
60767015 |
2 |
MRC2 |
G |
A |
exonic |
nonsynonymous SNV |
MRC2:NM_006039:exon24:c.G3467A:p.R1156H |
RS2429387 |
HDL cholesterol change with
statins:Obesity (body mass index (BMI)):Body mass index (BMI):Hypertension
(early onset hypertension) |
|
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 |
62892246 |
1 |
LRRC37A3 |
G |
A |
exonic |
nonsynonymous SNV |
LRRC37A3:NM_199340:exon4:c.C1130T:p.P377L |
|
17 |
63554591 |
1 |
AXIN2 |
G |
A |
exonic |
nonsynonymous SNV |
AXIN2:NM_004655:exon2:c.C148T:p.P50S |
RS2240308 |
Gene expression of AXIN2 [probe
222696_at] in lymphoblastoid cell lines:Hip bone mineral density
(BMD):Triglycerides change with statins:HDL cholesterol:Gene expression of
AXIN2 in blood |
|
17 |
64783081 |
2 |
PRKCA |
G |
A |
exonic |
nonsynonymous SNV |
PRKCA:NM_002737:exon15:c.G1702A:p.V568I |
RS6504459 |
Fasting blood glucose:HDL
cholesterol:Microalbuminuria:Infant head circumference |
|
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 |
65821865 |
2 |
BPTF |
C |
A |
exonic |
nonsynonymous SNV |
BPTF:NM_004459:exon1:c.C25A:p.P9T,BPTF:NM_182641:exon1:c.C25A:p.P9T |
|
17 |
65989048 |
2 |
C17orf58 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf58:NM_181656:exon2:c.A215G:p.E72G |
|
17 |
66533655 |
2 |
FAM20A |
A |
G |
exonic |
nonsynonymous SNV |
FAM20A:NM_017565:exon11:c.T1589C:p.L530S,FAM20A:NM_001243746:exon12:c.T1175C:p.L392S |
RS2907373 |
College completion:Gene expression
of PRKAR1A (probeID ILMN_2277077) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of PRKAR1A (probeID ILMN_2277077) in temporal
cortex in Alzheimer's disease cases and controls:Years of education |
|
17 |
66538239 |
1 |
FAM20A |
G |
T |
exonic |
nonsynonymous SNV |
FAM20A:NM_017565:exon7:c.C996A:p.N332K,FAM20A:NM_001243746:exon8:c.C582A:p.N194K |
RS2302234 |
Schizophrenia:Gene expression of
PRKAR1A in Lymphoblastoid cell lines:Gene expression of PRKAR1A in T
cells:Gene expression of PRKAR1A in Fibroblasts:Gene expression of FAM20A
[probe ILMN_2389590] in peripheral leukocytes:PRKAR1A gene expression in
HIV-infected CD4+ T cells:Gene expression of PRKAR1A in peripheral blood
monocytes:Gene expression of CCDC21 in peripheral blood monocytes:Gene
expression of CSK in peripheral blood monocytes:Partial
epilepsy:Neuroblastoma (brain cancer):Sporadic Creutzfeldt-Jakob disease:Gene
expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2389590)
in cerebellum in Alzheimer's disease cases:Gene expression of PRKAR1A
(probeID ILMN_2389590) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of PRKAR1A (probeID
ILMN_2277077) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PRKAR1A (probeID ILMN_2277077) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID
ILMN_2389590) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in non-Alzheimer's
disease samples:Gene expression of PRKAR1A (probeID ILMN_2277077) in
cerebellum in Alzheimer's disease cases:Gene expression of PRKAR1A (probeID
ILMN_2389590) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex
in Alzheimer's disease cases:Gene expression of PRKAR1A (probeID
ILMN_2277077) in temporal cortex in Alzheimer's disease cases |
|
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 |
71232687 |
1 |
C17orf80 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L,C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001351264:exon3:c.T1066C:p.F356L,C17orf80:NM_001351265:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L |
RS745143 |
Gene expression of COG1 in
peripheral blood monocytes:Gene expression of C17ORF80 (probeID ILMN_1762071)
in breast tumors:Gene expression of FAM104A in normal prepouch ileum |
|
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 |
71232807 |
1 |
C17orf80 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R,C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001351264:exon3:c.T1186C:p.C396R,C17orf80:NM_001351265:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R |
|
17 |
71232881 |
1 |
C17orf80 |
G |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351264:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351265:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H |
RS745142 |
Gene expression of FAM104A
[transcript NM_032837, probe A_24_P91232] in liver:Infant head circumference |
|
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 |
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 |
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 |
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 |
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 |
74475975 |
2 |
RHBDF2 |
C |
A |
exonic |
nonsynonymous SNV |
RHBDF2:NM_024599:exon4:c.G199T:p.A67S |
|
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 |
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 |
76482432 |
2 |
DNAH17 |
A |
G |
exonic |
synonymous SNV |
DNAH17:NM_173628:exon45:c.T6975C:p.I2325I |
|
17 |
76970879 |
2 |
LGALS3BP |
A |
G |
exonic |
synonymous SNV |
LGALS3BP:NM_005567:exon4:c.T267C:p.D89D |
|
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 |
78078709 |
1 |
GAA |
T |
C |
exonic |
synonymous SNV |
GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C |
RS1800300 |
LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of GAA in
normal prepouch ileum |
|
17 |
78091405 |
1 |
GAA |
G |
A |
exonic |
nonsynonymous SNV |
GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I |
RS1126690 |
Gene expression of GAA in normal
prepouch ileum |
|
17 |
78184393 |
1 |
SGSH |
C |
T |
exonic |
nonsynonymous SNV |
SGSH:NM_000199:exon8:c.G1367A:p.R456H |
RS7503034 |
Schizophrenia:Differential exon
level expression of GAA [probe 3737163] in brain cortex:Gene expression of
SGSH in peripheral blood monocytes:SGSH gene expression:Gene expression of
CARD14///SGSH in blood:Gene expression of SGSH in normal prepouch ileum |
|
17 |
78298938 |
2 |
RNF213 |
A |
G |
exonic |
nonsynonymous SNV |
RNF213:NM_001256071:exon18:c.A3133G:p.N1045D |
|
17 |
78354661 |
1 |
RNF213 |
C |
T |
exonic |
synonymous SNV |
RNF213:NM_001256071:exon56:c.C13671T:p.H4557H |
RS4889848 |
Gene expression of GTF2A1 in
peripheral blood monocytes:Gene expression of RNF213 in peripheral blood
monocytes:Autism:Autism with low IQ:Moyamoya disease:Comorbid depressive
syndrome and alcohol dependence:Gene expression of RNF213 (probeID
ILMN_1749722) in breast tumors:Gene expression of RNF213 (probeID
ILMN_1749722) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RNF213 (probeID ILMN_1749722) in cerebellum in
Alzheimer's disease cases and controls |
|
17 |
78820329 |
1 |
RPTOR |
C |
T |
exonic |
synonymous SNV |
RPTOR:NM_001163034:exon11:c.C1269T:p.G423G,RPTOR:NM_020761:exon11:c.C1269T:p.G423G |
RS3751945 |
2 hour glucose:College
completion:Years of education:Birth weight |
|
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 |
79173224 |
1 |
CEP131 |
T |
C |
exonic |
synonymous SNV |
CEP131:NM_001009811:exon10:c.A1149G:p.T383T,CEP131:NM_001319228:exon10:c.A1149G:p.T383T,CEP131:NM_001319229:exon10:c.A1149G:p.T383T,CEP131:NM_014984:exon10:c.A1149G:p.T383T |
|
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 |
79424516 |
2 |
BAHCC1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
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 |
79609410 |
2 |
TSPAN10 |
G |
T |
exonic |
unknown |
UNKNOWN |
|
17 |
79612161 |
2 |
TSPAN10 |
C |
T |
exonic |
unknown |
UNKNOWN |
RS6565616 |
Gene expression of LOC339229 in CHB
lymphoblastoid cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI
lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT lymphoblastoid
cell lines:LDL cholesterol:Moyamoya disease:Primary rhegmatogenous retinal
detachment:Gene expression of GPS1 in normal prepouch ileum:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
17 |
79612382 |
2 |
TSPAN10 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
17 |
79612443 |
2 |
TSPAN10 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
17 |
79615225 |
2 |
TSPAN10 |
G |
T |
exonic |
unknown |
UNKNOWN |
|
17 |
79637349 |
2 |
CCDC137 |
T |
C |
exonic |
synonymous SNV |
CCDC137:NM_199287:exon3:c.T363C:p.S121S |
|
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 |
80045086 |
1 |
FASN |
G |
C |
exonic |
synonymous SNV |
FASN:NM_004104:exon21:c.C3267G:p.A1089A |
RS4485435 |
Total cholesterol:LDL
cholesterol:Chronic kidney disease |
|
17 |
80151881 |
2 |
CCDC57 |
G |
A |
exonic |
synonymous SNV |
CCDC57:NM_198082:exon5:c.C753T:p.D251D,CCDC57:NM_001316321:exon6:c.C753T:p.D251D |
|
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 |
80350331 |
1 |
OGFOD3 |
G |
A |
exonic |
synonymous SNV |
OGFOD3:NM_024648:exon9:c.C903T:p.I301I |
RS11903 |
Alzheimer's disease:Chronic kidney
disease:Urinary albumin-to-creatinine ratio:Gene expression of CSNK1D in
blood:Gene expression of [probe 2480026 centered at chr17:77940544] in
blood:Gene expression of HEXDC in blood:Comorbid depressive syndrome and alcohol
dependence:Years of education |
|
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 |
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 |
133943277 |
1 |
|
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 |
2616457 |
1 |
NDC80 |
G |
C |
exonic |
nonsynonymous SNV |
NDC80:NM_006101:exon17:c.G1813C:p.A605P |
RS9051 |
Serum creatinine:Maternal
transmission distortion |
|
18 |
3188976 |
1 |
MYOM1 |
A |
G |
exonic |
nonsynonymous SNV |
MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P |
RS1962519 |
Eye color:Stabilized warfarin
dose:Lp-PLA2 mass:Comorbid depressive syndrome and alcohol
dependence:Parkinson's disease |
|
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 |
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 |
8784370 |
2 |
MTCL1 |
A |
G |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon6:c.A1260G:p.E420E |
|
18 |
8826083 |
2 |
MTCL1 |
G |
C |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon15:c.G4575C:p.T1525T |
RS3744977 |
Gene expression of LIPE in
peripheral blood monocytes |
|
18 |
10758023 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N |
RS7407105 |
Salmonella-induced pyroptosis |
|
18 |
10762962 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon20:c.C3006T:p.L1002L |
RS7241380 |
Hypertension, gender
differentiated:Irritible bowel syndrome: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 |
10787047 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon16:c.C2305T:p.L769L |
|
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 |
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 |
19079853 |
2 |
GREB1L |
A |
G |
exonic |
synonymous SNV |
GREB1L:NM_001142966:exon22:c.A3555G:p.E1185E |
|
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 |
21109250 |
2 |
C18orf8 |
T |
C |
exonic |
synonymous SNV |
C18orf8:NM_001318707:exon12:c.T933C:p.F311F,C18orf8:NM_001276342:exon13:c.T1260C:p.F420F,C18orf8:NM_001318709:exon13:c.T1260C:p.F420F,C18orf8:NM_001318708:exon14:c.T933C:p.F311F,C18orf8:NM_013326:exon15:c.T1404C:p.F468F |
RS1788825 |
HOMA-IR:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:College
completion:Obesity with early age of onset (age >2) |
|
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 |
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 |
23873463 |
2 |
TAF4B |
T |
C |
exonic |
synonymous SNV |
TAF4B:NM_001293725:exon9:c.T1815C:p.N605N,TAF4B:NM_005640:exon9:c.T1800C:p.N600N |
RS1677016 |
Total cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
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 |
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 |
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 |
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 |
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 |
33706614 |
2 |
SLC39A6 |
C |
G |
exonic |
nonsynonymous SNV |
SLC39A6:NM_012319:exon2:c.G357C:p.E119D |
|
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 |
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 |
43490602 |
1 |
EPG5 |
G |
A |
exonic |
synonymous SNV |
EPG5:NM_020964:exon23:c.C4089T:p.H1363H |
RS3744996 |
Eye color:Body mass index
(BMI):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of
education:Adiponectin levels:Acute lung injury following major trauma |
|
18 |
43497710 |
1 |
EPG5 |
A |
G |
exonic |
nonsynonymous SNV |
EPG5:NM_020964:exon17:c.T3173C:p.V1058A |
RS3744998 |
Hip bone mineral density (BMD):Eye
color:Systolic blood pressure (SBP):Years of education:College
completion:Primary rhegmatogenous retinal detachment |
|
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 |
47563299 |
2 |
MYO5B |
T |
C |
exonic |
nonsynonymous SNV |
MYO5B:NM_001080467:exon4:c.A376G:p.T126A |
|
18 |
48723217 |
2 |
MEX3C |
C |
T |
exonic |
synonymous SNV |
MEX3C:NM_016626:exon1:c.G474A:p.P158P |
|
18 |
54339818 |
2 |
WDR7 |
C |
G |
exonic |
synonymous SNV |
WDR7:NM_015285:exon2:c.C72G:p.A24A,WDR7:NM_052834:exon2:c.C72G:p.A24A |
|
18 |
55317676 |
2 |
ATP8B1 |
C |
T |
exonic |
nonsynonymous SNV |
ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T |
|
18 |
55362532 |
2 |
ATP8B1 |
T |
G |
exonic |
synonymous SNV |
ATP8B1:NM_005603:exon10:c.A811C:p.R271R |
|
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 |
56196451 |
1 |
ALPK2 |
C |
T |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon6:c.G5373A:p.K1791K |
RS7236563 |
Comorbid depressive syndrome and
alcohol dependence |
|
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 |
56203074 |
1 |
ALPK2 |
G |
A |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.C4345T:p.P1449S |
RS3809982 |
Celiac disease:Celiac
disease:Irritible bowel syndrome:Celiac disease:LDL cholesterol change with
statins:Height:Comorbid depressive syndrome and alcohol dependence |
|
18 |
56203120 |
1 |
ALPK2 |
C |
T |
exonic |
synonymous SNV |
ALPK2:NM_052947:exon5:c.G4299A:p.G1433G |
RS3809981 |
LDL cholesterol change with
statins:Height:Comorbid depressive syndrome and alcohol dependence |
|
18 |
56204671 |
1 |
ALPK2 |
A |
T |
exonic |
nonsynonymous SNV |
ALPK2:NM_052947:exon5:c.T2748A:p.N916K |
RS4940404 |
Height |
|
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 |
60036083 |
2 |
TNFRSF11A |
A |
G |
exonic |
synonymous SNV |
TNFRSF11A:NM_001278268:exon9:c.A891G:p.T297T,TNFRSF11A:NM_003839:exon9:c.A933G:p.T311T |
RS8092336 |
HDL cholesterol:Triglycerides
change with statins:HDL cholesterol change with statins:Coronary artery
disease (CAD) |
|
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 |
67718688 |
2 |
RTTN |
A |
G |
exonic |
nonsynonymous SNV |
RTTN:NM_001318520:exon38:c.T2546C:p.F849S,RTTN:NM_173630:exon39:c.T5282C:p.F1761S |
RS4891392 |
Comorbid depressive syndrome and
alcohol dependence |
|
18 |
72343008 |
2 |
ZNF407 |
T |
C |
exonic |
synonymous SNV |
ZNF407:NM_001146189:exon1:c.T33C:p.D11D,ZNF407:NM_001146190:exon1:c.T33C:p.D11D,ZNF407:NM_017757:exon1:c.T33C:p.D11D |
|
18 |
73641569 |
2 |
|
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 |
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 |
605171 |
2 |
HCN2 |
T |
C |
exonic |
synonymous SNV |
HCN2:NM_001194:exon3:c.T1167C:p.P389P |
|
19 |
965043 |
2 |
ARID3A |
T |
C |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon6:c.T1161C:p.N387N |
|
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 |
1094004 |
2 |
POLR2E |
G |
A |
exonic |
nonsynonymous SNV |
POLR2E:NM_002695:exon2:c.C131T:p.S44F |
|
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 |
1256998 |
2 |
MIDN |
C |
T |
exonic |
synonymous SNV |
MIDN:NM_177401:exon8:c.C1134T:p.D378D |
|
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 |
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 |
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 |
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 |
4033462 |
2 |
PIAS4 |
T |
C |
exonic |
synonymous SNV |
PIAS4:NM_015897:exon9:c.T1026C:p.C342C |
|
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 |
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 |
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 |
4818378 |
2 |
TICAM1 |
T |
C |
exonic |
synonymous SNV |
TICAM1:NM_182919:exon2:c.A12G:p.T4T |
RS7255265 |
HOMA-IR:HOMA-B:Fasting
insulin:Rheumatoid arthritis |
|
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 |
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 |
4945914 |
2 |
UHRF1 |
A |
C |
exonic |
unknown |
UNKNOWN |
|
19 |
4945917 |
2 |
UHRF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
19 |
5135392 |
2 |
KDM4B |
A |
G |
exonic |
nonsynonymous SNV |
KDM4B:NM_015015:exon15:c.A2128G:p.K710E |
|
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 |
6415443 |
2 |
KHSRP |
T |
C |
exonic |
synonymous SNV |
KHSRP:NM_003685:exon18:c.A1914G:p.A638A |
|
19 |
6495736 |
2 |
TUBB4A |
A |
G |
exonic |
synonymous SNV |
TUBB4A:NM_001289130:exon4:c.T558C:p.V186V,TUBB4A:NM_001289131:exon4:c.T558C:p.V186V,TUBB4A:NM_006087:exon4:c.T774C:p.V258V,TUBB4A:NM_001289123:exon5:c.T927C:p.V309V,TUBB4A:NM_001289127:exon5:c.T909C:p.V303V,TUBB4A:NM_001289129:exon5:c.T774C:p.V258V |
RS2071347 |
Cystatin C in serum:Transmission
distortion:Salmonella-induced pyroptosis:Parkinson's disease |
|
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 |
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 |
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 |
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 |
7928462 |
2 |
EVI5L |
T |
C |
exonic |
synonymous SNV |
EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
15789140 |
2 |
CYP4F12 |
A |
G |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon3:c.A268G:p.I90V |
|
19 |
16633950 |
2 |
CHERP |
T |
C |
exonic |
synonymous SNV |
CHERP:NM_006387:exon11:c.A1893G:p.P631P |
RS1043481 |
Fasting blood glucose:LDL
cholesterol |
|
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 |
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 |
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 |
17547292 |
2 |
TMEM221 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM221:NM_001190844:exon3:c.T851C:p.M284T |
RS4808641 |
Neuroticism:LDL cholesterol:LDL
cholesterol change with statins:Height:Infant head circumference |
|
19 |
18123738 |
1 |
ARRDC2 |
T |
C |
exonic |
nonsynonymous SNV |
ARRDC2:NM_001025604:exon8:c.T1172C:p.L391P,ARRDC2:NM_001286826:exon8:c.T1184C:p.L395P,ARRDC2:NM_015683:exon8:c.T1187C:p.L396P |
RS7259041 |
HOMA-IR:Height |
|
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 |
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 |
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 |
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 |
19735257 |
2 |
LPAR2 |
G |
T |
exonic |
synonymous SNV |
LPAR2:NM_004720:exon3:c.C864A:p.S288S |
|
19 |
19989354 |
1 |
ZNF253 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF253:NM_021047:exon2:c.C68T:p.T23I |
|
19 |
19989355 |
1 |
ZNF253 |
T |
G |
exonic |
synonymous SNV |
ZNF253:NM_021047:exon2:c.T69G:p.T23T |
|
19 |
20135066 |
2 |
ZNF682 |
G |
T |
exonic |
synonymous SNV |
ZNF682:NM_001077349:exon2:c.C27A:p.V9V,ZNF682:NM_033196:exon2:c.C123A:p.V41V |
|
19 |
20808149 |
2 |
ZNF626 |
A |
G |
exonic |
synonymous SNV |
ZNF626:NM_001076675:exon4:c.T534C:p.C178C |
|
19 |
21301127 |
1 |
ZNF714 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF714:NM_182515:exon5:c.C1657T:p.R553C |
|
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 |
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 |
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 |
33110204 |
1 |
ANKRD27 |
T |
C |
exonic |
nonsynonymous SNV |
ANKRD27:NM_032139:exon20:c.A1969G:p.S657G |
RS2287669 |
HDL cholesterol:LDL
cholesterol:Tardive dyskinesia:Fasting insulin:HOMA-IR:LDL
cholesterol:Cystatin C in serum:LDL cholesterol:Gene expression of PDCD5 in
blood |
|
19 |
33183352 |
1 |
NUDT19 |
G |
C |
exonic |
synonymous SNV |
NUDT19:NM_001105570:exon1:c.G486C:p.P162P |
RS61732600 |
Lysine/valine ratio |
|
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 |
33579128 |
1 |
GPATCH1 |
T |
C |
exonic |
synonymous SNV |
GPATCH1:NM_018025:exon2:c.T162C:p.S54S |
RS7259333 |
Irritible bowel syndrome:Fasting
insulin:Gene expression of LRP3 in blood:Gene expression of GPATCH1 (probeID
ILMN_1655625) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of GPATCH1 (probeID ILMN_1655625) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of GPATCH1 (probeID ILMN_1655625)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
RHPN2 (probeID ILMN_1753143) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum
in non-Alzheimer's disease samples:Gene expression of GPATCH1 (probeID
ILMN_1655625) in cerebellum in Alzheimer's disease cases:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Gene
expression of RHPN2 (probeID ILMN_1753143) in cerebellum in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration |
|
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 |
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 |
34959979 |
2 |
UBA2 |
A |
G |
exonic |
synonymous SNV |
UBA2:NM_005499:exon17:c.A1776G:p.S592S |
RS7259160 |
Autism:Adiponectin levels |
|
19 |
34973413 |
2 |
WTIP |
T |
C |
exonic |
synonymous SNV |
WTIP:NM_001080436:exon1:c.T534C:p.A178A |
|
19 |
34973476 |
2 |
WTIP |
G |
A |
exonic |
synonymous SNV |
WTIP:NM_001080436:exon1:c.G597A:p.E199E |
|
19 |
35422808 |
1 |
ZNF30 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF30:NM_001099437:exon3:c.C71T:p.S24F,ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F |
RS10422961 |
HOMA-B:LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene
expression of ZNF30 [transcript NM_001099438, probe A_32_P203430] in
liver:Presence of peripupillary pigmented ring:Gene expression of ZNF30
(probeID ILMN_1728230) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF30 (probeID ILMN_1728230) in cerebellum in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
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 |
35660508 |
2 |
FXYD5 |
G |
A |
exonic |
nonsynonymous SNV |
FXYD5:NM_001320913:exon8:c.G434A:p.R145H,FXYD5:NM_001164605:exon9:c.G527A:p.R176H,FXYD5:NM_014164:exon9:c.G527A:p.R176H,FXYD5:NM_144779:exon9:c.G527A:p.R176H |
RS12110 |
Gene expression of FXYD5 [probe
3830216] in brain cortex:Differential exon level expression of FXYD5 [probe
3830235] in brain cortex:Alopecia areata:Asthma:Gene expression of FXYD5 in
liver:Gene expression of FXYD7///FXYD5 in blood:Gene expression of FXYD5 in
blood:Gene expression of FXYD1 in blood:Resistance to kuru in aged women
despite likely exposure |
|
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 |
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 |
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 |
37210805 |
2 |
ZNF567 |
C |
T |
exonic |
synonymous SNV |
ZNF567:NM_001322911:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322912:exon5:c.C1086T:p.Y362Y,ZNF567:NM_152603:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001300979:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322913:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322914:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322916:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322917:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322919:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322915:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322918:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322920:exon7:c.C1179T:p.Y393Y |
RS3108201 |
LDL cholesterol:Years of education |
|
19 |
38652993 |
1 |
SIPA1L3 |
C |
T |
exonic |
synonymous SNV |
SIPA1L3:NM_015073:exon14:c.C3762T:p.S1254S |
RS332864 |
Response to Lithium Treatment for
Bipolar disorder:Total cholesterol:Microalbuminuria:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
39440966 |
1 |
FBXO17 |
T |
C |
exonic |
synonymous SNV |
FBXO17:NM_148169:exon2:c.A21G:p.L7L |
RS2304118 |
Gene expression of SIRT2
(ENSG00000068903) in dendritic cells |
|
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 |
39915758 |
1 |
PLEKHG2 |
C |
G |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A |
RS31728 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of SAMD4B
(ENSG00000179134) in dendritic cells:Gene expression of RPS16 in normal
prepouch ileum: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 |
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 |
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 |
41627496 |
2 |
CYP2F1 |
C |
T |
exonic |
synonymous SNV |
CYP2F1:NM_000774:exon5:c.C618T:p.F206F |
|
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 |
42736267 |
2 |
GSK3A |
A |
G |
exonic |
synonymous SNV |
GSK3A:NM_019884:exon10:c.T1320C:p.L440L |
|
19 |
44047826 |
2 |
XRCC1 |
T |
A |
exonic |
nonsynonymous SNV |
XRCC1:NM_006297:exon16:c.A1726T:p.N576Y |
|
19 |
44377357 |
2 |
ZNF404 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF404:NM_001033719:exon2:c.G1000A:p.G334S |
|
19 |
44419030 |
2 |
ZNF45 |
A |
G |
exonic |
synonymous SNV |
ZNF45:NM_003425:exon10:c.T558C:p.H186H |
|
19 |
44470663 |
2 |
ZNF221 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF221:NM_001297588:exon5:c.G1009C:p.A337P,ZNF221:NM_001297589:exon5:c.G1009C:p.A337P,ZNF221:NM_013359:exon6:c.G1009C:p.A337P |
RS435590 |
Abnormal Involuntary Movement Scale |
|
19 |
44471151 |
1 |
ZNF221 |
C |
G |
exonic |
synonymous SNV |
ZNF221:NM_001297588:exon5:c.C1497G:p.L499L,ZNF221:NM_001297589:exon5:c.C1497G:p.L499L,ZNF221:NM_013359:exon6:c.C1497G:p.L499L |
|
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 |
44500761 |
2 |
ZNF155 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H |
|
19 |
44501116 |
2 |
ZNF155 |
A |
G |
exonic |
synonymous SNV |
ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E |
|
19 |
44501227 |
2 |
ZNF155 |
A |
G |
exonic |
synonymous SNV |
ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G |
|
19 |
44535999 |
2 |
ZNF222 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF222:NM_001129996:exon4:c.G292T:p.V98F,ZNF222:NM_013360:exon4:c.G172T:p.V58F |
RS7258517 |
Differential exon level expression
of GENSCAN00000004291 [probe 3835331] in peripheral blood mononuclear
cells:Differential exon level expression of ZNF230 [probe 3835347] in
peripheral blood mononuclear cells:Triglycerides change with statins |
|
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 |
44832684 |
1 |
ZNF112 |
T |
G |
exonic |
synonymous SNV |
ZNF112:NM_001348284:exon3:c.A1443C:p.T481T,ZNF112:NM_001348282:exon4:c.A1626C:p.T542T,ZNF112:NM_001348283:exon4:c.A1626C:p.T542T,ZNF112:NM_013380:exon4:c.A1626C:p.T542T,ZNF112:NM_001083335:exon5:c.A1644C:p.T548T,ZNF112:NM_001348281:exon5:c.A1695C:p.T565T,ZNF112:NM_001348285:exon5:c.A1443C:p.T481T |
RS2609880 |
Cystatin C in serum:Chronic kidney
disease:LDL cholesterol:Mitral annular calcium:Birth weight |
|
19 |
44832875 |
1 |
ZNF112 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF112:NM_001348284:exon3:c.T1252C:p.Y418H,ZNF112:NM_001348282:exon4:c.T1435C:p.Y479H,ZNF112:NM_001348283:exon4:c.T1435C:p.Y479H,ZNF112:NM_013380:exon4:c.T1435C:p.Y479H,ZNF112:NM_001083335:exon5:c.T1453C:p.Y485H,ZNF112:NM_001348281:exon5:c.T1504C:p.Y502H,ZNF112:NM_001348285:exon5:c.T1252C:p.Y418H |
RS2722722 |
Schizophrenia:Premature ovarian
failure:Cystatin C in serum:Partial epilepsy:LDL cholesterol:Total
cholesterol:Gene expression of ZNF234///ZNF226 in blood:Bipolar
disorder:Mitral annular calcium |
|
19 |
44832992 |
1 |
ZNF112 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF112:NM_001348284:exon3:c.G1135C:p.E379Q,ZNF112:NM_001348282:exon4:c.G1318C:p.E440Q,ZNF112:NM_001348283:exon4:c.G1318C:p.E440Q,ZNF112:NM_013380:exon4:c.G1318C:p.E440Q,ZNF112:NM_001083335:exon5:c.G1336C:p.E446Q,ZNF112:NM_001348281:exon5:c.G1387C:p.E463Q,ZNF112:NM_001348285:exon5:c.G1135C:p.E379Q |
RS2722723 |
Cystatin C in serum:LDL
cholesterol:Total cholesterol:Mitral annular calcium |
|
19 |
44833506 |
1 |
ZNF112 |
C |
T |
exonic |
synonymous SNV |
ZNF112:NM_001348284:exon3:c.G621A:p.E207E,ZNF112:NM_001348282:exon4:c.G804A:p.E268E,ZNF112:NM_001348283:exon4:c.G804A:p.E268E,ZNF112:NM_013380:exon4:c.G804A:p.E268E,ZNF112:NM_001083335:exon5:c.G822A:p.E274E,ZNF112:NM_001348281:exon5:c.G873A:p.E291E,ZNF112:NM_001348285:exon5:c.G621A:p.E207E |
RS4325673 |
LDL cholesterol:Mitral annular
calcium |
|
19 |
44981525 |
1 |
ZNF180 |
G |
A |
exonic |
synonymous SNV |
ZNF180:NM_001278508:exon4:c.C1098T:p.S366S,ZNF180:NM_001288761:exon4:c.C144T:p.S48S,ZNF180:NM_001288762:exon4:c.C144T:p.S48S,ZNF180:NM_001278509:exon5:c.C1092T:p.S364S,ZNF180:NM_001288759:exon5:c.C1170T:p.S390S,ZNF180:NM_001291633:exon5:c.C1092T:p.S364S,ZNF180:NM_013256:exon5:c.C1173T:p.S391S,ZNF180:NM_001288760:exon7:c.C144T:p.S48S |
RS2020083 |
Height (Pygmy height) |
|
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 |
45389224 |
2 |
NECTIN2 |
A |
G |
exonic |
synonymous SNV |
NECTIN2:NM_001042724:exon7:c.A1227G:p.P409P |
RS283814 |
Serum creatinine:Late onset
Alzheimer's disease |
|
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 |
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 |
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 |
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 |
46319415 |
1 |
SYMPK |
G |
C |
exonic |
synonymous SNV |
SYMPK:NM_004819:exon26:c.C3381G:p.A1127A |
|
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 |
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 |
47543774 |
2 |
NPAS1 |
G |
A |
exonic |
synonymous SNV |
NPAS1:NM_001321086:exon5:c.G507A:p.Q169Q,NPAS1:NM_002517:exon9:c.G1035A:p.Q345Q |
RS3745615 |
Triglycerides:Body mass index
(BMI):Refractive error |
|
19 |
47548678 |
2 |
NPAS1 |
G |
A |
exonic |
synonymous SNV |
NPAS1:NM_002517:exon12:c.G1542A:p.A514A |
|
19 |
48182946 |
2 |
BICRA |
T |
C |
exonic |
synonymous SNV |
BICRA:NM_015711:exon6:c.T519C:p.P173P |
|
19 |
48244194 |
2 |
EHD2 |
A |
G |
exonic |
synonymous SNV |
EHD2:NM_014601:exon6:c.A1137G:p.L379L |
RS7255434 |
Triglycerides:Triglycerides |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
51841417 |
1 |
VSIG10L |
C |
T |
exonic |
nonsynonymous SNV |
VSIG10L:NM_001163922:exon6:c.G1775A:p.R592Q |
|
19 |
51844978 |
1 |
VSIG10L |
G |
T |
exonic |
synonymous SNV |
VSIG10L:NM_001163922:exon2:c.C324A:p.S108S |
RS8105710 |
Fasting blood glucose:HOMA-IR:Gene
expression of ETFB in blood:Gene expression of ETFB///CLDND2 in
blood:Hypertension (early onset hypertension) |
|
19 |
53217326 |
1 |
ZNF611 |
T |
C |
exonic |
synonymous SNV |
ZNF611:NM_001161500:exon4:c.A132G:p.S44S,ZNF611:NM_001161499:exon5:c.A132G:p.S44S,ZNF611:NM_030972:exon6:c.A132G:p.S44S |
|
19 |
53303527 |
2 |
ZNF28 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF28:NM_006969:exon4:c.T1571C:p.M524T |
|
19 |
53344701 |
1 |
ZNF468 |
A |
G |
exonic |
synonymous SNV |
ZNF468:NM_001008801:exon4:c.T846C:p.H282H |
RS10420793 |
LDL cholesterol:HDL cholesterol
change with statins:Gene expression of SFXN2 in peripheral blood
monocytes:Partial epilepsy:Resistance to kuru in aged women despite likely
exposure:Maternal transmission distortion:Transmission distortion |
|
19 |
53344919 |
1 |
ZNF468 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF468:NM_001008801:exon4:c.A628C:p.M210L |
|
19 |
53348505 |
1 |
ZNF468 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF468:NM_001277120:exon4:c.C187T:p.R63C |
|
19 |
53453777 |
1 |
ZNF816 |
C |
T |
exonic |
synonymous SNV |
ZNF816:NM_001202456:exon4:c.G1251A:p.K417K,ZNF816:NM_001202457:exon4:c.G1251A:p.K417K,ZNF816:NM_001031665:exon5:c.G1251A:p.K417K |
|
19 |
53454604 |
1 |
ZNF816 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF816:NM_001202456:exon4:c.A424C:p.S142R,ZNF816:NM_001202457:exon4:c.A424C:p.S142R,ZNF816:NM_001031665:exon5:c.A424C:p.S142R |
|
19 |
53669273 |
2 |
ZNF665 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF665:NM_024733:exon4:c.A470G:p.H157R |
RS4801959 |
Triglycerides:Partial
epilepsy:Autism:Sporadic Creutzfeldt-Jakob disease:Refractive
error:Adiponectin levels:Aortic valve calcium |
|
19 |
53761633 |
1 |
VN1R2 |
C |
G |
exonic |
nonsynonymous SNV |
VN1R2:NM_173856:exon1:c.C5G:p.T2S |
|
19 |
53761650 |
2 |
VN1R2 |
A |
G |
exonic |
nonsynonymous SNV |
VN1R2:NM_173856:exon1:c.A22G:p.T8A |
|
19 |
53912242 |
2 |
ZNF765 |
G |
A |
exonic |
synonymous SNV |
ZNF765:NM_001350495:exon3:c.G1275A:p.T425T,ZNF765:NM_001040185:exon4:c.G1434A:p.T478T |
RS10426347 |
HDL cholesterol:Gene expression of
ARHGEF9 in peripheral blood monocytes:Microalbuminuria:Birth weight |
|
19 |
53993670 |
2 |
ZNF813 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF813:NM_001004301:exon4:c.G184A:p.A62T |
RS2617667 |
Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
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 |
54649671 |
2 |
CNOT3 |
T |
C |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon9:c.T729C:p.P243P |
|
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 |
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 |
54973280 |
1 |
LENG9 |
C |
G |
exonic |
nonsynonymous SNV |
LENG9:NM_001301782:exon1:c.G1430C:p.R477P,LENG9:NM_198988:exon1:c.G1496C:p.R499P |
RS10423424 |
Fasting blood
glucose:HOMA-B:Microalbuminuria |
|
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 |
55671337 |
2 |
DNAAF3 |
C |
T |
exonic |
nonsynonymous SNV |
DNAAF3:NM_001256714:exon10:c.G1294A:p.D432N,DNAAF3:NM_001256715:exon10:c.G1093A:p.D365N,DNAAF3:NM_001256716:exon10:c.G931A:p.D311N,DNAAF3:NM_178837:exon10:c.G1234A:p.D412N |
|
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 |
55913038 |
1 |
UBE2S |
C |
T |
exonic |
synonymous SNV |
UBE2S:NM_014501:exon4:c.G435A:p.A145A |
|
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 |
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 |
56127441 |
1 |
ZNF865 |
C |
G |
exonic |
synonymous SNV |
ZNF865:NM_001195605:exon1:c.C2457G:p.T819T |
|
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 |
56599405 |
1 |
ZNF787 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF787:NM_001002836:exon4:c.G1133C:p.G378A |
|
19 |
56599452 |
1 |
ZNF787 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF787:NM_001002836:exon3:c.C1089G:p.D363E |
|
19 |
57132968 |
1 |
ZNF71 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF71:NM_021216:exon3:c.G313A:p.V105I |
RS2072501 |
Irritible bowel
syndrome:Simpson-Angus Scale:Gene expression of ZIM2 [probe ILMN_24950] in
osteoblasts treated with dexamethasone:Infant head circumference |
|
19 |
57839150 |
2 |
ZNF543 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF543:NM_213598:exon4:c.A320G:p.Q107R |
|
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 |
57931303 |
1 |
ZNF17 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF17:NM_006959:exon3:c.C443A:p.T148K,ZNF17:NM_001330617:exon4:c.C449A:p.T150K |
RS2014827 |
Lp-PLA2 mass:Mitral annular
calcium:Gene expression of ZNF749 in normal prepouch ileum |
|
19 |
57956828 |
2 |
ZNF749 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF749:NM_001321953:exon2:c.T2051G:p.I684R,ZNF749:NM_001321954:exon2:c.T2051G:p.I684R,ZNF749:NM_001023561:exon3:c.T2312G:p.I771R,ZNF749:NM_001321952:exon3:c.T2291G:p.I764R |
RS7246856 |
Schizophrenia:Total
cholesterol:Height:Gene expression of ZNF773 in blood:Gene expression of
ZNF211 in blood:Resistance to kuru in aged women despite likely
exposure:Years of education: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 |
58384779 |
1 |
ZNF814 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF814:NM_001144989:exon3:c.T1979A:p.F660Y |
|
19 |
58384812 |
1 |
ZNF814 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF814:NM_001144989:exon3:c.A1946G:p.N649S |
|
19 |
58453342 |
1 |
ZNF256 |
T |
C |
exonic |
synonymous SNV |
ZNF256:NM_005773:exon3:c.A834G:p.Q278Q |
RS959231 |
LDL cholesterol change with statins |
|
19 |
58774071 |
1 |
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 |
58806083 |
1 |
ZNF8 |
T |
C |
exonic |
synonymous SNV |
ZNF8:NM_021089:exon4:c.T909C:p.H303H |
RS260471 |
HOMA-B:Fasting insulin:Chronic
kidney disease:Gene expression of ZNF274 [transcript NM_016325, probe
A_23_P153251] in liver:Gene expression of ZNF8 in normal prepouch ileum |
|
19 |
58982384 |
2 |
ZNF324 |
A |
G |
exonic |
synonymous SNV |
ZNF324:NM_014347:exon4:c.A525G:p.R175R |
|
19 |
59074653 |
1 |
MZF1 |
T |
C |
exonic |
nonsynonymous SNV |
MZF1:NM_003422:exon6:c.A991G:p.I331V,MZF1:NM_198055:exon6:c.A991G:p.I331V |
RS4756 |
HDL cholesterol:LDL
cholesterol:Advanced age-related macular degeneration |
|
19 |
71401607 |
2 |
|
19 |
118678364 |
2 |
|
19 |
148681299 |
2 |
|
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 |
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 |
1592265 |
2 |
SIRPB1 |
A |
G |
exonic |
synonymous SNV |
SIRPB1:NM_001135844:exon2:c.T171C:p.T57T,SIRPB1:NM_001329157:exon2:c.T171C:p.T57T |
|
20 |
1592284 |
2 |
SIRPB1 |
G |
A |
exonic |
nonsynonymous SNV |
SIRPB1:NM_001135844:exon2:c.C152T:p.T51I,SIRPB1:NM_001329157:exon2:c.C152T:p.T51I |
|
20 |
1592312 |
2 |
SIRPB1 |
T |
C |
exonic |
nonsynonymous SNV |
SIRPB1:NM_001135844:exon2:c.A124G:p.I42V,SIRPB1:NM_001329157:exon2:c.A124G:p.I42V |
|
20 |
1895889 |
1 |
SIRPA |
G |
C |
exonic |
nonsynonymous SNV |
SIRPA:NM_001040023:exon2:c.G224C:p.G75A,SIRPA:NM_001040022:exon3:c.G224C:p.G75A,SIRPA:NM_001330728:exon3:c.G224C:p.G75A,SIRPA:NM_080792:exon3:c.G224C:p.G75A |
|
20 |
2633936 |
2 |
NOP56 |
T |
C |
exonic |
synonymous SNV |
NOP56:NM_006392:exon3:c.T105C:p.S35S |
|
20 |
2637071 |
2 |
NOP56 |
T |
C |
exonic |
synonymous SNV |
NOP56:NM_006392:exon9:c.T1035C:p.T345T |
|
20 |
3147762 |
2 |
LZTS3 |
A |
G |
exonic |
synonymous SNV |
LZTS3:NM_001282533:exon3:c.T48C:p.D16D |
|
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 |
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 |
3838441 |
1 |
MAVS |
C |
G |
exonic |
nonsynonymous SNV |
MAVS:NM_020746:exon3:c.C277G:p.Q93E |
|
20 |
6759115 |
2 |
BMP2 |
A |
T |
exonic |
nonsynonymous SNV |
BMP2:NM_001200:exon3:c.A570T:p.R190S |
RS235768 |
Response to Lithium Treatment for
Bipolar disorder:Serum creatinine:LDL cholesterol:Type 2 diabetes |
|
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 |
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 |
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 |
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 |
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 |
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 |
32664866 |
1 |
RALY |
G |
A |
exonic |
nonsynonymous SNV |
RALY:NM_007367:exon7:c.G643A:p.G215S,RALY:NM_016732:exon8:c.G691A:p.G231S |
|
20 |
32664880 |
1 |
RALY |
T |
C |
exonic |
synonymous SNV |
RALY:NM_007367:exon7:c.T657C:p.G219G,RALY:NM_016732:exon8:c.T705C:p.G235G |
|
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 |
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 |
35491551 |
2 |
SOGA1 |
A |
G |
exonic |
nonsynonymous SNV |
SOGA1:NM_080627:exon1:c.T197C:p.F66S |
|
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 |
36147572 |
1 |
BLCAP |
T |
C |
exonic |
nonsynonymous SNV |
BLCAP:NM_001167821:exon2:c.A5G:p.Y2C,BLCAP:NM_001167822:exon2:c.A5G:p.Y2C,BLCAP:NM_001167823:exon2:c.A5G:p.Y2C,BLCAP:NM_001317074:exon2:c.A5G:p.Y2C,BLCAP:NM_001317075:exon2:c.A5G:p.Y2C,BLCAP:NM_006698:exon2:c.A5G:p.Y2C,BLCAP:NM_001167820:exon3:c.A5G:p.Y2C |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
47886684 |
1 |
ZNFX1 |
G |
A |
exonic |
synonymous SNV |
ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y |
RS57950 |
Height:Gene expression of ZNFX1 in
blood:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Salmonella-induced pyroptosis |
|
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 |
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 |
52192408 |
1 |
ZNF217 |
C |
T |
exonic |
synonymous SNV |
ZNF217:NM_006526:exon3:c.G2895A:p.A965A |
|
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 |
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 |
56227514 |
1 |
PMEPA1 |
T |
C |
exonic |
synonymous SNV |
PMEPA1:NM_001255976:exon4:c.A375G:p.S125S,PMEPA1:NM_020182:exon4:c.A459G:p.S153S,PMEPA1:NM_199169:exon4:c.A354G:p.S118S,PMEPA1:NM_199170:exon4:c.A309G:p.S103S,PMEPA1:NM_199171:exon4:c.A309G:p.S103S |
RS6025698 |
Cystatin C in serum:Serum
creatinine:Rheumatoid arthritis:Microalbuminuria:Adiponectin levels |
|
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 |
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 |
60713311 |
2 |
PSMA7 |
G |
A |
exonic |
synonymous SNV |
PSMA7:NM_002792:exon5:c.C507T:p.R169R |
|
20 |
60713332 |
2 |
PSMA7 |
A |
G |
exonic |
synonymous SNV |
PSMA7:NM_002792:exon5:c.T486C:p.G162G |
RS1135961 |
HDL cholesterol:Total cholesterol |
|
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 |
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 |
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 |
60921643 |
2 |
LAMA5 |
T |
C |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon9:c.A1201G:p.T401A |
|
20 |
60927349 |
2 |
LAMA5 |
C |
T |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon4:c.G636A:p.A212A |
RS483876 |
Urinary albumin-to-creatinine ratio |
|
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 |
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 |
62191321 |
2 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon13:c.T6078C:p.N2026N,HELZ2:NM_001037335:exon19:c.T7785C:p.N2595N |
RS3810477 |
LDL cholesterol:Gene expression of
STMN3 (ENSG00000197457) in dendritic cells treated with Mycobacterium
tuberculosis |
|
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 |
62196884 |
2 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon3:c.T1584C:p.T528T,HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T |
|
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 |
62200575 |
2 |
HELZ2 |
T |
C |
exonic |
synonymous SNV |
HELZ2:NM_001037335:exon5:c.A1014G:p.S338S |
|
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 |
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 |
|
21 |
16340289 |
2 |
NRIP1 |
C |
T |
exonic |
synonymous SNV |
NRIP1:NM_003489:exon4:c.G225A:p.G75G |
RS2229741 |
Spatial recognition memory percent
correct:LDL cholesterol:Systolic blood pressure (SBP):Age at death with kuru
exposure |
|
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 |
30331935 |
1 |
LTN1 |
G |
A |
exonic |
nonsynonymous SNV |
LTN1:NM_001320766:exon12:c.C2534T:p.A845V,LTN1:NM_015565:exon13:c.C2576T:p.A859V |
|
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 |
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 |
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 |
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 |
35467645 |
2 |
SLC5A3 |
A |
G |
exonic |
nonsynonymous SNV |
SLC5A3:NM_006933:exon2:c.A148G:p.T50A |
|
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 |
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 |
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 |
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 |
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 |
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 |
45522693 |
1 |
TRAPPC10 |
G |
A |
exonic |
synonymous SNV |
TRAPPC10:NM_001351709:exon15:c.G1980A:p.G660G,TRAPPC10:NM_003274:exon22:c.G3381A:p.G1127G |
|
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 |
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 |
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 |
46875564 |
2 |
COL18A1 |
T |
C |
exonic |
synonymous SNV |
COL18A1:NM_030582:exon1:c.T120C:p.H40H,COL18A1:NM_130444:exon1:c.T120C:p.H40H |
|
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 |
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 |
|
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 |
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 |
19868218 |
2 |
TXNRD2 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS1139793 |
Barnes Akathisia Rating Scale |
|
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 |
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 |
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 |
24988920 |
2 |
LRRC75B |
C |
T |
exonic |
synonymous SNV |
LRRC75B:NM_207644:exon1:c.G87A:p.E29E |
|
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 |
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 |
30771554 |
2 |
CCDC157 |
T |
G |
exonic |
nonsynonymous SNV |
CCDC157:NM_001017437:exon10:c.T1759G:p.S587A,CCDC157:NM_001318334:exon10:c.T1759G:p.S587A |
RS2015035 |
Gene expression of SF3A1 in
peripheral blood monocytes:Total cholesterol:LDL cholesterol:Gene expression
of SF3A1 in blood:Adiponectin levels:Gene expression of SF3A1 (probeID
ILMN_1697286) in cerebellum in Alzheimer's disease cases:Gene expression of
SF3A1 (probeID ILMN_1697286) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in
Alzheimer's disease cases:Gene expression of SF3A1 (probeID ILMN_1697286) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
SF3A1 (probeID ILMN_1697286) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of SF3A1 (probeID
ILMN_1697286) in cerebellum in non-Alzheimer's disease samples |
|
22 |
31011610 |
2 |
TCN2 |
G |
C |
exonic |
nonsynonymous SNV |
TCN2:NM_000355:exon6:c.G776C:p.R259P,TCN2:NM_001184726:exon6:c.G695C:p.R232P |
RS1801198 |
Years of education:Adiponectin
levels |
|
22 |
31266546 |
2 |
OSBP2 |
T |
C |
exonic |
synonymous SNV |
OSBP2:NM_001282741:exon2:c.T210C:p.A70A,OSBP2:NM_001282739:exon3:c.T984C:p.A328A,OSBP2:NM_030758:exon3:c.T984C:p.A328A,OSBP2:NM_001282738:exon4:c.T489C:p.A163A |
RS2301816 |
PROP taste detection
threshold:Infant head circumference:College completion:Years of education |
|
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 |
31673092 |
1 |
LIMK2 |
C |
G |
exonic |
nonsynonymous SNV |
LIMK2:NM_001031801:exon15:c.C2027G:p.A676G |
|
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 |
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 |
34022284 |
2 |
LARGE1 |
G |
A |
exonic |
synonymous SNV |
LARGE1:NM_133642:exon4:c.C435T:p.A145A,LARGE1:NM_004737:exon5:c.C435T:p.A145A |
RS86487 |
Obesity with early age of onset (age
>2) |
|
22 |
36424450 |
2 |
RBFOX2 |
A |
C |
exonic |
nonsynonymous SNV |
RBFOX2:NM_001082578:exon1:c.T24G:p.H8Q,RBFOX2:NM_001082579:exon1:c.T24G:p.H8Q,RBFOX2:NM_001349999:exon1:c.T24G:p.H8Q |
|
22 |
36537500 |
2 |
APOL3 |
A |
T |
exonic |
synonymous SNV |
APOL3:NM_145640:exon3:c.T957A:p.G319G,APOL3:NM_014349:exon4:c.T744A:p.G248G,APOL3:NM_145639:exon4:c.T744A:p.G248G,APOL3:NM_145642:exon4:c.T357A:p.G119G,APOL3:NM_030644:exon5:c.T744A:p.G248G,APOL3:NM_145641:exon5:c.T357A:p.G119G |
RS132618 |
Serum creatinine:Waist hip ratio |
|
22 |
36587223 |
2 |
APOL4 |
G |
T |
exonic |
unknown |
UNKNOWN |
RS6000173 |
Fasting blood glucose:Waist hip
ratio:PROP taste detection threshold:Obesity with early age of onset (age
>2) |
|
22 |
36587279 |
2 |
APOL4 |
A |
G |
exonic |
unknown |
UNKNOWN |
RS6000174 |
Fasting insulin:PROP taste detection
threshold:Obesity with early age of onset (age >2) |
|
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 |
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 |
38341134 |
2 |
C22orf23 |
T |
C |
exonic |
synonymous SNV |
C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T |
RS139859 |
Total cholesterol:Total cholesterol
change with statins:Triglycerides change with statins:Methylation levels at
chr22:36473064-36473114 [hg18 coord, probe cg25404088] in Cerebellum:Total
cholesterol:LDL cholesterol |
|
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 |
41551039 |
2 |
EP300 |
T |
A |
exonic |
synonymous SNV |
EP300:NM_001429:exon17:c.T3183A:p.T1061T |
RS20552 |
Serum creatinine:Birth weight |
|
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 |
42089623 |
2 |
C22orf46 |
T |
C |
exonic |
nonsynonymous SNV |
C22orf46:NM_001142964:exon2:c.T373C:p.W125R |
|
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 |
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 |
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 |
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 |
46931793 |
2 |
CELSR1 |
G |
C |
exonic |
synonymous SNV |
CELSR1:NM_014246:exon1:c.C1275G:p.L425L |
|
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 |
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 |
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 |
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 |
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 |
50895020 |
2 |
SBF1 |
C |
T |
exonic |
synonymous SNV |
SBF1:NM_002972:exon30:c.G3987A:p.A1329A |
|
22 |
50941985 |
2 |
LMF2 |
T |
C |
exonic |
synonymous SNV |
LMF2:NM_033200:exon14:c.A1959G:p.Q653Q |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|