Chr |
Loc |
Genotype |
Gene |
Ref |
Alt |
Type |
Class |
Protein |
RS |
Phenotype |
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1 |
881627 |
2 |
NOC2L |
G |
A |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon16:c.C1843T:p.L615L |
|
1 |
887801 |
2 |
NOC2L |
A |
G |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon10:c.T1182C:p.T394T |
|
1 |
888639 |
2 |
NOC2L |
T |
C |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon9:c.A918G:p.E306E |
|
1 |
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 |
1452615 |
1 |
ATAD3A |
C |
T |
exonic |
synonymous SNV |
ATAD3A:NM_018188:exon3:c.C351T:p.A117A |
|
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 |
2126139 |
2 |
FAAP20 |
C |
G |
exonic |
nonsynonymous SNV |
FAAP20:NM_001256945:exon1:c.G50C:p.R17P,FAAP20:NM_001256946:exon1:c.G50C:p.R17P,FAAP20:NM_001256947:exon1:c.G50C:p.R17P,FAAP20:NM_001282673:exon1:c.G50C:p.R17P,FAAP20:NM_182533:exon1:c.G50C:p.R17P |
|
1 |
2340200 |
2 |
PEX10 |
T |
C |
exonic |
synonymous SNV |
PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T |
|
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 |
3394456 |
2 |
ARHGEF16 |
T |
C |
exonic |
synonymous SNV |
ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S |
|
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 |
3631167 |
2 |
|
1 |
3807593 |
2 |
C1orf174 |
G |
C |
exonic |
nonsynonymous SNV |
C1orf174:NM_207356:exon3:c.C158G:p.T53R |
RS4274008 |
Birth weight |
|
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 |
6693097 |
2 |
THAP3 |
A |
G |
exonic |
nonsynonymous SNV |
THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R |
RS3174820 |
Total cholesterol:Systolic blood
pressure (SBP):Obesity with early age of onset (age >2):Aortic valve
calcium:Mitral annular calcium |
|
1 |
6704635 |
2 |
DNAJC11 |
A |
G |
exonic |
synonymous SNV |
DNAJC11:NM_018198:exon10:c.T1080C:p.G360G |
RS200458 |
Triglycerides:Cystatin C in
serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar
disorder:Hypertension (early onset hypertension):Adiponectin levels |
|
1 |
8418644 |
2 |
RERE |
C |
A |
exonic |
synonymous SNV |
RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R |
|
1 |
8418650 |
2 |
RERE |
T |
C |
exonic |
synonymous SNV |
RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R |
|
1 |
8421203 |
2 |
RERE |
T |
C |
exonic |
synonymous SNV |
RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P |
RS13596 |
Gene expression of SLC45A1
(ENSG00000162426) in dendritic cells treated with Mycobacterium tuberculosis |
|
1 |
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 |
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 |
11132217 |
2 |
EXOSC10 |
G |
A |
exonic |
synonymous SNV |
EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R |
RS1130683 |
Autism:Microalbuminuria:Birth
weight:Parkinson's disease:Paternal transmission distortion:Obesity with
early age of onset (age >2) |
|
1 |
11141187 |
2 |
EXOSC10 |
C |
G |
exonic |
synonymous SNV |
EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P |
|
1 |
11205058 |
2 |
MTOR |
C |
T |
exonic |
synonymous SNV |
MTOR:NM_004958:exon33:c.G4731A:p.A1577A |
RS1057079 |
Differential exon level expression
of EXOSC10 [probe 2396496] in brain cortex:Differential exon level expression
of EXOSC10 [probe 2396496] in peripheral blood mononuclear cells:Pulse wave
velocity:Total cholesterol:Autism:Height:Body mass index (BMI):Microalbuminuria:Urinary
albumin-to-creatinine ratio:Corneal curvature:Gene expression of FRAP1 in
blood:Serum concentration of isobutyrylcarnitine:Variant Creutzfeldt-Jakob
disease:Paternal transmission distortion:Parkinson's disease:Birth
weight:Obesity with early age of onset (age >2) |
|
1 |
11288758 |
2 |
MTOR |
G |
A |
exonic |
synonymous SNV |
MTOR:NM_004958:exon19:c.C2997T:p.N999N |
RS1064261 |
Differential splicing of FRAP1
[probeset 2396584] in lymphoblastoid cell lines:Total cholesterol:Height:Body
mass index (BMI):Urinary albumin-to-creatinine
ratio:Microalbuminuria:Diabetic retinopathy in Type 2 diabetes
mellitus:Obesity with early age of onset (age >2):Parkinson's disease |
|
1 |
11301714 |
2 |
MTOR |
A |
G |
exonic |
synonymous SNV |
MTOR:NM_004958:exon10:c.T1437C:p.D479D |
RS1135172 |
Adiponectin levels |
|
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 |
11983206 |
2 |
KIAA2013 |
A |
G |
exonic |
synonymous SNV |
KIAA2013:NM_138346:exon2:c.T1374C:p.F458F |
|
1 |
12082926 |
2 |
MIIP |
A |
G |
exonic |
nonsynonymous SNV |
MIIP:NM_021933:exon4:c.A499G:p.K167E |
RS2295283 |
Differential exon level expression
of MFN2 [probe 2320645] in peripheral blood mononuclear cells:Simpson-Angus
Scale:Gene expression of PLOD1 in peripheral blood monocytes:Gene expression
of MFN2 in peripheral blood monocytes:Gene expression of MIIP [transcript
NM_021933, probe A_23_P114649] in liver:Gene expression of MFN2 in blood:Gene
expression of PLOD1 in blood:Serum ratio of
(1-eicosatrienoylglycerophosphocholine*)/(arabinose):Serum ratio of (laurate
(12:0))/(xanthine):Gene expression of MFN2 [probeset 216205_s_at] in
sputum:Gene expression of MFN2 [probeset 201155_s_at] in sputum:Bipolar
disorder:Migraine |
|
1 |
12401868 |
2 |
VPS13D |
A |
C |
exonic |
synonymous SNV |
VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P |
RS28551666 |
Serum ratio of
(1-methylurate)/(HWESASXX*):Diabetic retinopathy in Type 2 diabetes mellitus |
|
1 |
12638964 |
2 |
DHRS3 |
T |
C |
exonic |
synonymous SNV |
DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P |
RS2275875 |
Differential exon level expression
of DHRS3 [probe 2397040] in brain cortex:Serum ratio of
(threitol)/(trigonelline (N'-methylnicotinate)):Serum concentration of
serotonin (5HT) |
|
1 |
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 |
16388646 |
2 |
FAM131C |
T |
C |
exonic |
synonymous SNV |
FAM131C:NM_182623:exon4:c.A216G:p.R72R |
|
1 |
16641899 |
2 |
FBXO42 |
C |
T |
exonic |
synonymous SNV |
FBXO42:NM_018994:exon2:c.G15A:p.S5S |
|
1 |
16890606 |
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 |
17264170 |
1 |
CROCC |
G |
C |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon10:c.G1228C:p.E410Q |
|
1 |
17264200 |
1 |
CROCC |
A |
G |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon10:c.A1258G:p.N420D |
|
1 |
17265511 |
1 |
CROCC |
C |
T |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1482T:p.S494S |
|
1 |
17265532 |
1 |
CROCC |
C |
G |
exonic |
synonymous SNV |
CROCC:NM_014675:exon12:c.C1503G:p.P501P |
|
1 |
17275337 |
1 |
CROCC |
C |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon19:c.C2752T:p.R918W |
|
1 |
17277485 |
1 |
CROCC |
A |
G |
exonic |
synonymous SNV |
CROCC:NM_014675:exon20:c.A2874G:p.T958T |
|
1 |
17277573 |
1 |
CROCC |
C |
T |
exonic |
nonsynonymous SNV |
CROCC:NM_014675:exon20:c.C2962T:p.R988W |
|
1 |
17277581 |
1 |
CROCC |
T |
C |
exonic |
synonymous SNV |
CROCC:NM_014675:exon20:c.T2970C:p.A990A |
|
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 |
21804601 |
2 |
NBPF3 |
T |
A |
exonic |
stopgain |
NBPF3:NM_001256416:exon9:c.T1032A:p.Y344X |
|
1 |
21804609 |
2 |
NBPF3 |
G |
A |
exonic |
nonsynonymous SNV |
NBPF3:NM_001256416:exon9:c.G1040A:p.C347Y |
|
1 |
22191454 |
2 |
HSPG2 |
G |
A |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V |
RS897471 |
Triglycerides:Microalbuminuria:Infant
head circumference:Gene expression of HSPG2 (ENSG00000142798) in dendritic
cells treated with Mycobacterium tuberculosis |
|
1 |
22206649 |
2 |
HSPG2 |
T |
C |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S |
RS989994 |
Cystatin C in serum |
|
1 |
22206942 |
2 |
HSPG2 |
G |
A |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A |
|
1 |
22207235 |
2 |
HSPG2 |
T |
C |
exonic |
nonsynonymous SNV |
HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V |
|
1 |
22214127 |
2 |
HSPG2 |
A |
G |
exonic |
synonymous SNV |
HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L |
|
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 |
22835677 |
2 |
ZBTB40 |
A |
G |
exonic |
nonsynonymous SNV |
ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C |
RS209729 |
Schizophrenia:Simpson-Angus
Scale:Gene expression of [probe 1850386 centered at chr1:22884236] in
blood:Gene expression of ZBTB40 in blood:Refractive error:Obesity with early
age of onset (age >2) |
|
1 |
22846709 |
2 |
ZBTB40 |
G |
A |
exonic |
nonsynonymous SNV |
ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M |
|
1 |
23885498 |
2 |
ID3 |
T |
C |
exonic |
nonsynonymous SNV |
ID3:NM_002167:exon2:c.A313G:p.T105A |
RS11574 |
Height:Body mass index (BMI):Gene
expression of ASAP3 (ENSG00000088280) in dendritic cells treated with
Mycobacterium tuberculosis:Aortic valve calcium:Gene expression change of
ASAP3 (ENSG00000088280) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
1 |
24134721 |
2 |
HMGCL |
T |
C |
exonic |
synonymous SNV |
HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L |
RS719400 |
Total cholesterol:Serum
creatinine:Salmonella-induced pyroptosis |
|
1 |
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 |
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 |
26786627 |
2 |
DHDDS |
G |
A |
exonic |
nonsynonymous SNV |
DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_001319959:exon8:c.G478A:p.V160M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M |
RS3816539 |
Waist hip ratio:Mean corpuscular
volume (MCV) |
|
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 |
27427041 |
2 |
SLC9A1 |
T |
C |
exonic |
synonymous SNV |
SLC9A1:NM_003047:exon12:c.A2205G:p.E735E |
RS4418629 |
LDL cholesterol:HDL cholesterol:LDL
cholesterol change with statins:Advanced age-related macular
degeneration:Adiponectin levels |
|
1 |
27687466 |
2 |
MAP3K6 |
G |
T |
exonic |
nonsynonymous SNV |
MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K |
|
1 |
27875824 |
2 |
AHDC1 |
C |
T |
exonic |
nonsynonymous SNV |
AHDC1:NM_001029882:exon6:c.G2803A:p.A935T |
RS4908364 |
Cystatin C in serum |
|
1 |
30872602 |
2 |
|
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 |
36642420 |
2 |
MAP7D1 |
T |
C |
exonic |
synonymous SNV |
MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S |
|
1 |
36752433 |
2 |
THRAP3 |
C |
T |
exonic |
nonsynonymous SNV |
THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V |
RS6425977 |
Spine bone mineral density
(BMD):HDL cholesterol change with statins:Waist hip ratio:Gene expression of
MAP7D1 in blood:Serum concentration of creatine:Diabetic retinopathy in Type
2 diabetes mellitus |
|
1 |
38148765 |
2 |
C1orf109 |
A |
G |
exonic |
nonsynonymous SNV |
C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H |
RS684260 |
Neuroticism:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration:Birth weight |
|
1 |
38338795 |
2 |
INPP5B |
A |
G |
exonic |
nonsynonymous SNV |
INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T |
RS11488569 |
Autism:Triglycerides:Adiponectin
levels:Gene expression of C1orf122 (ENSG00000197982) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of C1orf122
(ENSG00000197982) in dendritic cells |
|
1 |
40236014 |
1 |
OXCT2 |
C |
T |
exonic |
nonsynonymous SNV |
OXCT2:NM_022120:exon1:c.G914A:p.R305H |
|
1 |
40236074 |
2 |
OXCT2 |
A |
C |
exonic |
nonsynonymous SNV |
OXCT2:NM_022120:exon1:c.T854G:p.L285R |
|
1 |
40236128 |
2 |
OXCT2 |
T |
C |
exonic |
nonsynonymous SNV |
OXCT2:NM_022120:exon1:c.A800G:p.D267G |
|
1 |
40363054 |
2 |
MYCL |
G |
C |
exonic |
nonsynonymous SNV |
MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S |
RS3134614 |
Abnormal Involuntary Movement
Scale:Gene expression of TRIT1 in peripheral blood
monocytes:Triglycerides:Total cholesterol:Height:Adiponectin
levels:Parkinson's disease:Obesity with early age of onset (age >2) |
|
1 |
40533266 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G |
|
1 |
40533287 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G |
|
1 |
40533326 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D |
|
1 |
40533347 |
2 |
CAP1 |
T |
G |
exonic |
nonsynonymous SNV |
CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A |
|
1 |
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 |
42693597 |
2 |
FOXJ3 |
A |
G |
exonic |
nonsynonymous SNV |
FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A |
RS343376 |
Differential exon level expression
of FOXJ3 [probe 2408886] in brain cortex:Differential exon level expression
of FOXJ3 [probe 2408880] in brain cortex:Differential exon level expression
of FOXJ3 [probe 2408896] in brain cortex:Differential exon level expression
of GUCA2B [probe 2332488] in brain cortex:2 hour glucose:Chronic kidney
disease:Lp-PLA2 mass:Height:Waist hip ratio:Neuroblastoma (brain
cancer):Adiponectin levels:Obsessive-compulsive disorder (OCD) |
|
1 |
43212431 |
2 |
P3H1 |
A |
G |
exonic |
synonymous SNV |
P3H1:NM_022356:exon15:c.T2148C:p.G716G |
|
1 |
44058265 |
2 |
PTPRF |
C |
A |
exonic |
synonymous SNV |
PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A |
RS3828151 |
Triglycerides change with
statins:Chronic kidney disease:PROP taste detection threshold |
|
1 |
44071221 |
2 |
PTPRF |
G |
A |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V |
RS631248 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Gene expression of CCDC24 in peripheral blood
monocytes |
|
1 |
44083507 |
2 |
PTPRF |
T |
C |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G |
RS641365 |
Irritible bowel
syndrome:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Lp-PLA2
activity:Gene expression of CCDC24 in peripheral blood monocytes:Gene
expression of GPR146 in peripheral blood monocytes:Serum ratio of
(lathosterol)/(scyllo-inositol):Diastolic blood pressure (DBP):Years of
education |
|
1 |
44083519 |
2 |
PTPRF |
G |
A |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R |
|
1 |
44084739 |
2 |
PTPRF |
C |
T |
exonic |
synonymous SNV |
PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R |
|
1 |
44137257 |
2 |
KDM4A |
C |
A |
exonic |
nonsynonymous SNV |
KDM4A:NM_014663:exon11:c.C1445A:p.A482E |
RS586339 |
Simpson-Angus Scale:Fasting blood
glucose:Years of education:Refractive error |
|
1 |
45504720 |
2 |
ZSWIM5 |
G |
C |
exonic |
synonymous SNV |
ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T |
RS7551698 |
Fasting blood glucose:HDL
cholesterol |
|
1 |
46476587 |
2 |
MAST2 |
T |
G |
exonic |
nonsynonymous SNV |
MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E |
RS11211247 |
HOMA-B:Gene expression of NASP in
peripheral blood monocytes:HDL cholesterol:Waist hip ratio:Serum
concentration of acetylphosphate:Birth weight:Transmission
distortion:Paternal transmission distortion:Advanced age-related macular
degeneration |
|
1 |
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 |
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 |
51873951 |
2 |
EPS15 |
G |
A |
exonic |
synonymous SNV |
EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y |
RS1065754 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Gene expression of EPS15 in blood |
|
1 |
52266242 |
2 |
NRDC |
G |
A |
exonic |
synonymous SNV |
NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P |
RS8375 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG:Birth weight:Years of
education:Parkinson's disease |
|
1 |
52290984 |
2 |
NRDC |
T |
G |
exonic |
synonymous SNV |
NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G |
RS11205896 |
HDL cholesterol change with
statins:Nicotine dependence (smoking), cigarettes per day:Waist hip
ratio:Parkinson's disease:Birth weight |
|
1 |
53072454 |
2 |
GPX7 |
T |
C |
exonic |
synonymous SNV |
GPX7:NM_015696:exon2:c.T237C:p.F79F |
|
1 |
53250650 |
2 |
ZYG11B |
G |
A |
exonic |
synonymous SNV |
ZYG11B:NM_024646:exon5:c.G1194A:p.G398G |
|
1 |
53563589 |
2 |
|
1 |
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 |
59142713 |
2 |
MYSM1 |
T |
C |
exonic |
synonymous SNV |
MYSM1:NM_001085487:exon9:c.A1275G:p.P425P |
|
1 |
59147926 |
2 |
MYSM1 |
T |
C |
exonic |
nonsynonymous SNV |
MYSM1:NM_001085487:exon8:c.A790G:p.T264A |
RS12139511 |
Triglycerides change with
statins:LDL cholesterol:Lp-PLA2 activity:Waist hip ratio:Gene expression of
OMA1 in blood:Variant Creutzfeldt-Jakob disease:Refractive error |
|
1 |
61869783 |
2 |
NFIA |
G |
A |
exonic |
synonymous SNV |
NFIA:NM_001134673:exon8:c.G1083A:p.P361P,NFIA:NM_001145511:exon8:c.G1059A:p.P353P,NFIA:NM_005595:exon8:c.G1083A:p.P361P,NFIA:NM_001145512:exon9:c.G1218A:p.P406P |
|
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 |
62728784 |
2 |
KANK4 |
A |
G |
exonic |
nonsynonymous SNV |
KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A |
RS2666472 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Hip bone mineral density (BMD):Gene
expression of probeset 2415948 in lymphoblastoid cell lines:Gene expression
of probeset 2415950 in osteoblasts:Total cholesterol change with
statins:Infant head circumference:Adiponectin levels |
|
1 |
62728838 |
2 |
KANK4 |
T |
C |
exonic |
nonsynonymous SNV |
KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R |
RS2258470 |
Total cholesterol change with
statins:Infant head circumference:Adiponectin levels |
|
1 |
62728861 |
2 |
KANK4 |
T |
C |
exonic |
synonymous SNV |
KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K |
RS2260581 |
Abnormal Involuntary Movement
Scale:Total cholesterol change with statins:Infant head
circumference:Adiponectin levels |
|
1 |
62728918 |
2 |
KANK4 |
G |
A |
exonic |
synonymous SNV |
KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P |
RS2262110 |
Triglycerides:HOMA-B:Total
cholesterol change with statins:Adiponectin levels |
|
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 |
63881552 |
2 |
ALG6 |
C |
T |
exonic |
nonsynonymous SNV |
ALG6:NM_013339:exon11:c.C911T:p.S304F |
|
1 |
63991267 |
1 |
EFCAB7 |
T |
C |
exonic |
synonymous SNV |
EFCAB7:NM_032437:exon2:c.T24C:p.D8D |
RS217478 |
Total cholesterol change with
statins:Serum creatinine:Chronic kidney disease:LDL cholesterol:Total
cholesterol:Gene expression of ITGB3BP in CD4+ lymphocytes:Alzheimer's
disease:Serum ratio of (catechol sulfate)/(octadecanedioate):Variant
Creutzfeldt-Jakob disease:Gene expression of ITGB3BP (probeID ILMN_1692790)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
ITGB3BP (probeID ILMN_1692790) in temporal cortex in Alzheimer's disease
cases and controls |
|
1 |
64515379 |
2 |
ROR1 |
C |
T |
exonic |
synonymous SNV |
ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L |
|
1 |
64624842 |
2 |
ROR1 |
A |
G |
exonic |
synonymous SNV |
ROR1:NM_005012:exon8:c.A1353G:p.V451V |
|
1 |
65113568 |
2 |
CACHD1 |
T |
C |
exonic |
nonsynonymous SNV |
CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T |
|
1 |
65858151 |
2 |
DNAJC6 |
C |
T |
exonic |
synonymous SNV |
DNAJC6:NM_001256864:exon12:c.C1506T:p.H502H,DNAJC6:NM_014787:exon12:c.C1335T:p.H445H,DNAJC6:NM_001256865:exon13:c.C1296T:p.H432H |
|
1 |
66058513 |
2 |
LEPR |
A |
G |
exonic |
nonsynonymous SNV |
LEPR:NM_001198687:exon5:c.A668G:p.Q223R,LEPR:NM_001198688:exon5:c.A668G:p.Q223R,LEPR:NM_001198689:exon5:c.A668G:p.Q223R,LEPR:NM_001003679:exon6:c.A668G:p.Q223R,LEPR:NM_001003680:exon6:c.A668G:p.Q223R,LEPR:NM_002303:exon6:c.A668G:p.Q223R |
RS1137101 |
Rheumatoid arthritis:Fasting
insulin:Plasma soluble leptin receptor (sOB-R) levels:IL6:Lp-PLA2
mass:Rheumatoid arthritis:Gene expression of LEPROT///LEPR in blood:Diastolic
blood pressure (DBP):Coronary artery disease (CAD) |
|
1 |
66096087 |
1 |
LEPR |
G |
T |
exonic |
stoploss |
LEPR:NM_001198687:exon19:c.G2876T:p.X959L,LEPR:NM_001003680:exon20:c.G2876T:p.X959L |
|
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 |
74665493 |
2 |
FPGT;FPGT-TNNI3K |
G |
A |
exonic |
synonymous SNV |
FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V |
RS792310 |
Gene expression of MGC22773 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of LRRIQ3 [probe
235498_at] in lymphoblastoid cell lines:Gene expression of probe 1560760_s_at
in lymphoblastoid cell lines:LDL cholesterol change with statins:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Gene expression of FPGT
(probeID ILMN_1727878) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of LRRIQ3 in normal prepouch ileum:Years of
education:Gene expression of FPGT (probeID ILMN_1727878) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of FPGT in normal
prepouch ileum |
|
1 |
75175886 |
2 |
CRYZ |
T |
C |
exonic |
nonsynonymous SNV |
CRYZ:NM_001134759:exon4:c.A115G:p.I39V,CRYZ:NM_001130043:exon6:c.A526G:p.I176V,CRYZ:NM_001889:exon6:c.A526G:p.I176V,CRYZ:NM_001130042:exon7:c.A526G:p.I176V |
RS3819946 |
Gene expression of CRYZ in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Gene expression of
CRYZ in peripheral blood monocytes:Partial epilepsy:Intracranial aneurysm:LDL
cholesterol:Gene expression of C1orf171 [probe ILMN_26975] in osteoblasts
treated with PGE2:Serum ratio of (2-tetradecenoyl
carnitine)/(glycochenodeoxycholate):Bipolar disorder:Tetrology of
fallot:Hypertension (early onset hypertension):Gene expression of CRYZ in
normal prepouch ileum:Obesity with early age of onset (age >2) |
|
1 |
75190452 |
2 |
CRYZ |
C |
T |
exonic |
synonymous SNV |
CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G |
RS1051122 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
75214441 |
2 |
TYW3 |
A |
G |
exonic |
nonsynonymous SNV |
TYW3:NM_001162916:exon3:c.A262G:p.M88V,TYW3:NM_138467:exon4:c.A361G:p.M121V |
RS1133891 |
Obesity with early age of onset
(age >2):Gene expression of TYW3 (ENSG00000162623) in dendritic
cells:Years of education:Gene expression of CRYZ in normal prepouch ileum |
|
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 |
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 |
85624549 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon7:c.G3469A:p.V1157I |
|
1 |
85648620 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon3:c.G1705A:p.V569I |
|
1 |
86818572 |
2 |
ODF2L |
T |
C |
exonic |
synonymous SNV |
ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E |
|
1 |
86820267 |
2 |
ODF2L |
C |
T |
exonic |
synonymous SNV |
ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E |
RS1182098 |
Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Body mass index (BMI):Gene expression of ODF2L
(probeID ILMN_2325028) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ODF2L (probeID ILMN_2325028) in temporal cortex in
Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2
diabetes mellitus |
|
1 |
86838158 |
2 |
ODF2L |
C |
T |
exonic |
synonymous SNV |
ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V |
RS421105 |
Premature ovarian failure:Gene
expression of ODF2L in Fibroblasts:Gene expression of ODF2L in Lymphoblastoid
cell lines:Gene expression of ODF2L in T cells:Gene expression of ODF2L
[probe ILMN_2325028] in peripheral leukocytes:Cystatin C in serum:Chronic
kidney disease:Serum creatinine:Gene expression of ODF2L in blood:Gene
expression of ODF2L (probeID ILMN_2325028) in cerebellum in Alzheimer's
disease cases:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of ODF2L (probeID
ILMN_2325028) in temporal cortex in Alzheimer's disease cases and
controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of
ODF2L (probeID ILMN_2325028) in cerebellum in non-Alzheimer's disease
samples:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of ODF2L (probeID
ILMN_2325028) in temporal cortex in Alzheimer's disease cases |
|
1 |
89322982 |
2 |
GTF2B |
G |
A |
exonic |
synonymous SNV |
GTF2B:NM_001514:exon6:c.C724T:p.L242L |
|
1 |
89579941 |
2 |
GBP2 |
T |
C |
exonic |
nonsynonymous SNV |
GBP2:NM_004120:exon7:c.A907G:p.S303G |
|
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 |
91980447 |
2 |
CDC7 |
A |
G |
exonic |
synonymous SNV |
CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T |
RS483532 |
Triglycerides:Serum ratio of
(1-methylurate)/(homocitrulline):Glaucoma (normal pressure glaucoma) |
|
1 |
92262874 |
2 |
TGFBR3 |
T |
C |
exonic |
synonymous SNV |
TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A |
RS2810904 |
Triglycerides change with
statins:HDL cholesterol change with statins:Parkinson's disease:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Birth weight |
|
1 |
92327045 |
2 |
TGFBR3 |
G |
A |
exonic |
nonsynonymous SNV |
TGFBR3:NM_001195683:exon2:c.C44T:p.S15F,TGFBR3:NM_003243:exon2:c.C44T:p.S15F,TGFBR3:NM_001195684:exon3:c.C44T:p.S15F |
RS1805110 |
Abnormal Involuntary Movement
Scale:Tardive dyskinesia:Alzheimer's disease:Lp-PLA2 mass:Total
cholesterol:LDL cholesterol:Triglycerides:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):PROP taste detection
threshold:Parkinson's disease |
|
1 |
92646021 |
2 |
KIAA1107 |
G |
A |
exonic |
synonymous SNV |
KIAA1107:NM_015237:exon6:c.G1242A:p.K414K |
RS1483022 |
Rheumatoid arthritis:Anti-TNF
treatment response in rheumatoid arthritis (by DAS-28 score change at 3
months):Years of education |
|
1 |
92647223 |
2 |
KIAA1107 |
A |
G |
exonic |
nonsynonymous SNV |
KIAA1107:NM_015237:exon6:c.A2444G:p.N815S |
RS560389 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Serum creatinine:Rheumatoid
arthritis:Gene expression of RPAP2 in blood:Years of education:Infant head
circumference:Total cholesterol:Tetrology of fallot |
|
1 |
92647532 |
2 |
KIAA1107 |
C |
A |
exonic |
nonsynonymous SNV |
KIAA1107:NM_015237:exon6:c.C2753A:p.T918N |
|
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 |
94639447 |
2 |
ARHGAP29 |
C |
T |
exonic |
nonsynonymous SNV |
ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D |
|
1 |
95001600 |
2 |
F3 |
A |
C |
exonic |
synonymous SNV |
F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P |
|
1 |
95330372 |
2 |
SLC44A3 |
G |
A |
exonic |
nonsynonymous SNV |
SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I |
RS859098 |
LDL cholesterol:HDL
cholesterol:Schizophrenia:Premature ovarian failure:Gene expression of
SLC44A3 in Cerebellum:Height:Microalbuminuria:Serum ratio of
(biliverdin)/(HWESASXX*):Taste change in healthy volunteers in response to
topiramate treatment (Normal taste):Gene expression of SLC44A3 (probeID
ILMN_1658498) in cerebellum in Alzheimer's disease cases:Gene expression of
SLC44A3 (probeID ILMN_1658498) in cerebellum in Progressive Supranuclear
Palsy cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum
in non-Alzheimer's disease samples:Gene expression of SLC44A3 (probeID
ILMN_1658498) in cerebellum in Alzheimer's disease cases and controls |
|
1 |
95709821 |
2 |
RWDD3 |
T |
C |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A |
|
1 |
95709939 |
2 |
RWDD3 |
T |
G |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K |
RS2296308 |
Rheumatoid arthritis:Gene
expression of TTC25 in peripheral blood monocytes:Partial
epilepsy:Neuroblastoma (brain cancer):Serum ratio of
(ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Hypertension (early onset
hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid |
|
1 |
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 |
99225627 |
2 |
SNX7 |
G |
A |
exonic |
synonymous SNV |
SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E |
|
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 |
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 |
109884775 |
2 |
SORT1 |
T |
G |
exonic |
synonymous SNV |
SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T |
RS2228604 |
Cystatin C in serum:Serum
creatinine:Chronic kidney disease:Bipolar disorder:College completion |
|
1 |
109897103 |
2 |
SORT1 |
A |
G |
exonic |
synonymous SNV |
SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F |
RS11142 |
LDL cholesterol:HOMA-B:Cystatin C
in serum:Serum creatinine:Chronic kidney disease:Methylation levels at
chr1:109742583-109742633 [hg18 coord, probe cg02175308] in Cerebellum:Total
cholesterol:LDL cholesterol:Coronary artery disease (CAD):College completion |
|
1 |
110170896 |
2 |
AMPD2 |
T |
C |
exonic |
synonymous SNV |
AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001308170:exon9:c.T1209C:p.H403H,AMPD2:NM_001257361:exon10:c.T1080C:p.H360H,AMPD2:NM_004037:exon10:c.T1434C:p.H478H,AMPD2:NM_139156:exon10:c.T1191C:p.H397H,AMPD2:NM_001257360:exon11:c.T1434C:p.H478H |
RS863978 |
Serum creatinine:Urinary
albumin-to-creatinine ratio |
|
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 |
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 |
112269872 |
2 |
FAM212B |
G |
A |
exonic |
synonymous SNV |
FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F |
|
1 |
112999227 |
2 |
CTTNBP2NL |
G |
A |
exonic |
synonymous SNV |
CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q |
RS1175641 |
Triglycerides:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Mitral annular
calcium |
|
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 |
118148229 |
2 |
|
1 |
120611964 |
1 |
NOTCH2 |
G |
C |
exonic |
nonsynonymous SNV |
NOTCH2:NM_001200001:exon1:c.C57G:p.C19W,NOTCH2:NM_024408:exon1:c.C57G:p.C19W |
|
1 |
120612006 |
1 |
NOTCH2 |
G |
A |
exonic |
synonymous SNV |
NOTCH2:NM_001200001:exon1:c.C15T:p.R5R,NOTCH2:NM_024408:exon1:c.C15T:p.R5R |
|
1 |
144854597 |
2 |
PDE4DIP |
T |
C |
exonic |
synonymous SNV |
PDE4DIP:NM_001350520:exon38:c.A7359G:p.R2453R,PDE4DIP:NM_001198834:exon42:c.A6873G:p.R2291R,PDE4DIP:NM_014644:exon42:c.A6873G:p.R2291R,PDE4DIP:NM_001350522:exon43:c.A6714G:p.R2238R,PDE4DIP:NM_001198832:exon44:c.A6555G:p.R2185R,PDE4DIP:NM_001350521:exon44:c.A7167G:p.R2389R,PDE4DIP:NM_001350523:exon44:c.A6552G:p.R2184R |
|
1 |
144854598 |
2 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon38:c.G7358A:p.R2453Q,PDE4DIP:NM_001198834:exon42:c.G6872A:p.R2291Q,PDE4DIP:NM_014644:exon42:c.G6872A:p.R2291Q,PDE4DIP:NM_001350522:exon43:c.G6713A:p.R2238Q,PDE4DIP:NM_001198832:exon44:c.G6554A:p.R2185Q,PDE4DIP:NM_001350521:exon44:c.G7166A:p.R2389Q,PDE4DIP:NM_001350523:exon44:c.G6551A:p.R2184Q |
|
1 |
144877176 |
1 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon24:c.G4997A:p.R1666Q,PDE4DIP:NM_001198834:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_014644:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_001198832:exon31:c.G4379A:p.R1460Q,PDE4DIP:NM_001350521:exon31:c.G4922A:p.R1641Q,PDE4DIP:NM_001350522:exon31:c.G4709A:p.R1570Q,PDE4DIP:NM_001350523:exon31:c.G4376A:p.R1459Q |
|
1 |
144879264 |
2 |
PDE4DIP |
A |
G |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R |
|
1 |
144879375 |
2 |
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 |
144882581 |
1 |
PDE4DIP |
A |
G |
exonic |
synonymous SNV |
PDE4DIP:NM_001350520:exon20:c.T3927C:p.I1309I,PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_001350521:exon27:c.T3849C:p.I1283I,PDE4DIP:NM_001350522:exon27:c.T3636C:p.I1212I |
|
1 |
144917546 |
1 |
PDE4DIP |
A |
G |
exonic |
synonymous SNV |
PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001350520:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001002812:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198834:exon12:c.T1558C:p.L520L,PDE4DIP:NM_014644:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198832:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350521:exon15:c.T1969C:p.L657L,PDE4DIP:NM_001350522:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350523:exon15:c.T1756C:p.L586L |
|
1 |
144930596 |
1 |
PDE4DIP |
C |
A |
exonic |
synonymous SNV |
PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P,PDE4DIP:NM_001350520:exon1:c.G1113T:p.P371P |
RS2762867 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
144931330 |
1 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T,PDE4DIP:NM_001350520:exon1:c.G379A:p.A127T |
RS2762745 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
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 |
145273345 |
1 |
NOTCH2NL |
T |
C |
exonic |
nonsynonymous SNV |
NOTCH2NL:NM_203458:exon3:c.T199C:p.S67P |
|
1 |
145281543 |
1 |
NOTCH2NL |
C |
T |
exonic |
nonsynonymous SNV |
NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I |
|
1 |
145293420 |
1 |
NBPF10 |
C |
T |
exonic |
synonymous SNV |
NBPF10:NM_001039703:exon1:c.C15T:p.A5A,NBPF10:NM_001302371:exon1:c.C15T:p.A5A |
|
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 |
145368461 |
1 |
NBPF9 |
A |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
146672906 |
2 |
FMO5 |
C |
T |
exonic |
synonymous SNV |
FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P |
RS894469 |
Differential exon level expression
of CHD1L [probe 2356761] in peripheral blood mononuclear cells:Alzheimer's
disease:Total cholesterol change with statins:Triglycerides:Height:Bipolar
disorder:Hypertension (early onset hypertension) |
|
1 |
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 |
148594472 |
1 |
NBPF15 |
G |
A |
exonic |
synonymous SNV |
NBPF15:NM_173638:exon19:c.G1845A:p.P615P,NBPF15:NM_001170755:exon22:c.G1845A:p.P615P |
|
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 |
150531170 |
2 |
ADAMTSL4 |
C |
T |
exonic |
synonymous SNV |
ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H |
|
1 |
150771703 |
2 |
CTSK |
T |
C |
exonic |
synonymous SNV |
CTSK:NM_000396:exon7:c.A831G:p.A277A |
RS10788796 |
Triglycerides:Parkinson's disease |
|
1 |
151006539 |
2 |
PRUNE1 |
C |
A |
exonic |
synonymous SNV |
PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G |
RS3738476 |
HDL cholesterol:Autism with low
IQ:Height:Waist hip ratio:Years of education:College completion |
|
1 |
151105824 |
2 |
SEMA6C |
C |
G |
exonic |
synonymous SNV |
SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P |
|
1 |
151108137 |
2 |
SEMA6C |
T |
G |
exonic |
nonsynonymous SNV |
SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P |
RS4971007 |
Gene expression of CDC42SE1 [probe
223674_s_at] in lymphoblastoid cell lines:Gene expression of LYSMD1 [probe
232283_at] in lymphoblastoid cell lines:Gene expression of BNIPL in blood
cells in Celiac disease:Body mass index (BMI):Gene expression of SELENBP1 in
blood:Gene expression of C1orf56///MLLT11 in blood:Gene expression of
BNIPL///C1orf56 in blood:Gene expression of CDC42SE1///C1orf56 in blood:Serum
ratio of (1,7-dimethylurate)/(caffeine):Years of education:College
completion:Diabetic retinopathy in Type 2 diabetes mellitus:Primary
rhegmatogenous retinal detachment |
|
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 |
151740666 |
2 |
OAZ3 |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
151867560 |
2 |
THEM4 |
G |
A |
exonic |
synonymous SNV |
THEM4:NM_053055:exon2:c.C210T:p.D70D |
|
1 |
151881885 |
2 |
THEM4 |
A |
C |
exonic |
nonsynonymous SNV |
THEM4:NM_053055:exon1:c.T50G:p.L17R |
|
1 |
153220360 |
2 |
|
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 |
154919080 |
2 |
PBXIP1 |
C |
T |
exonic |
nonsynonymous SNV |
PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D |
RS2061690 |
Serum creatinine:Body mass index
(BMI):Gene expression of DPM3 in liver:Gene expression of PBXIP1 [probeset
207838_x_at] in sputum |
|
1 |
154987526 |
2 |
ZBTB7B |
C |
T |
exonic |
synonymous SNV |
ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I |
RS11264295 |
Methylation levels at
chr1:153273828-153273878 [hg18 coord, probe cg21596858] in Temporal
cortex:Comorbid depressive syndrome and alcohol dependence |
|
1 |
154988957 |
2 |
ZBTB7B |
A |
G |
exonic |
synonymous SNV |
ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P |
|
1 |
155026942 |
2 |
ADAM15 |
A |
C |
exonic |
nonsynonymous SNV |
ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T |
RS6427128 |
Irritible bowel syndrome:Arthritis
including non-Rheumatoid:Schizophrenia:Differential exon level expression of
ADAM15 [probe 2360588] in peripheral blood mononuclear cells:Differential
exon level expression of ADAM15 [probe 2360588] in brain cortex:Alzheimer's
disease:Serum creatinine:Triglycerides:HDL cholesterol:Gene expression of
ADAM15 in blood:Serum ratio of
(gamma-glutamylmethionine*)/(succinylcarnitine):Comorbid depressive syndrome
and alcohol dependence:Gene expression of CKS1B (ENSG00000173207) in
dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related
macular degeneration:Gene expression change of PBXIP1 (ENSG00000163346) in
dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of
fallot:Gene expression of PBXIP1 (ENSG00000163346) in dendritic cells:Gene
expression of EFNA1 (ENSG00000169242) in dendritic cells treated with
Mycobacterium tuberculosis:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
1 |
155178782 |
2 |
MTX1 |
A |
T |
exonic |
nonsynonymous SNV |
MTX1:NM_002455:exon1:c.A187T:p.T63S,MTX1:NM_198883:exon1:c.A187T:p.T63S |
|
1 |
155230131 |
2 |
SCAMP3 |
C |
T |
exonic |
synonymous SNV |
SCAMP3:NM_052837:exon3:c.G300A:p.G100G,SCAMP3:NM_005698:exon4:c.G378A:p.G126G |
RS1142287 |
Glu Cer 24:1 mol %:Gene expression
of GBAP1 in normal prepouch ileum:Hypertension (early onset
hypertension):Gene expression of PKLR in normal prepouch ileum:Aortic valve
calcium |
|
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 |
155581278 |
1 |
MSTO1 |
C |
T |
exonic |
nonsynonymous SNV |
MSTO1:NM_001350776:exon5:c.C140T:p.T47M |
|
1 |
155581311 |
1 |
MSTO1 |
T |
C |
exonic |
nonsynonymous SNV |
MSTO1:NM_001350776:exon5:c.T173C:p.L58P |
|
1 |
155658085 |
2 |
YY1AP1 |
T |
C |
exonic |
synonymous SNV |
YY1AP1:NM_001198903:exon1:c.A171G:p.E57E,YY1AP1:NM_001198904:exon1:c.A171G:p.E57E |
RS2666826 |
Body mass index (BMI) |
|
1 |
155726782 |
1 |
GON4L |
C |
T |
exonic |
synonymous SNV |
GON4L:NM_001282856:exon27:c.G5484A:p.R1828R,GON4L:NM_001282858:exon27:c.G5484A:p.R1828R,GON4L:NM_001282860:exon27:c.G5484A:p.R1828R |
|
1 |
155735012 |
2 |
GON4L |
T |
C |
exonic |
nonsynonymous SNV |
GON4L:NM_001282856:exon21:c.A4252G:p.M1418V,GON4L:NM_001282858:exon21:c.A4252G:p.M1418V,GON4L:NM_001282860:exon21:c.A4252G:p.M1418V,GON4L:NM_001282861:exon21:c.A4252G:p.M1418V,GON4L:NM_032292:exon21:c.A4252G:p.M1418V |
RS2297775 |
2 hour glucose:Gene expression of
ADAM15 in peripheral blood monocytes:Gene expression of SYT11 in peripheral
blood monocytes:Serum magnesium:Waist hip ratio:Body mass index (BMI):Serum
concentration of heme*:Obesity with early age of onset (age >2):Birth
weight |
|
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 |
156446903 |
2 |
MEF2D |
T |
C |
exonic |
synonymous SNV |
MEF2D:NM_001271629:exon7:c.A756G:p.P252P,MEF2D:NM_005920:exon7:c.A756G:p.P252P |
RS2274317 |
HOMA-B:Fasting
insulin:Triglycerides change with statins:Height:Body mass index
(BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Advanced age-related macular
degeneration |
|
1 |
156450740 |
2 |
MEF2D |
G |
A |
exonic |
synonymous SNV |
MEF2D:NM_001271629:exon4:c.C282T:p.N94N,MEF2D:NM_005920:exon4:c.C282T:p.N94N |
RS1925950 |
HOMA-B:Triglycerides change with
statins:Height:Body mass index (BMI):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Migraine without aura |
|
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 |
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 |
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 |
169345868 |
2 |
BLZF1 |
A |
G |
exonic |
nonsynonymous SNV |
BLZF1:NM_001320972:exon3:c.A119G:p.Q40R,BLZF1:NM_001320973:exon3:c.A119G:p.Q40R,BLZF1:NM_003666:exon3:c.A119G:p.Q40R |
RS1028180 |
Height:Diastolic blood pressure
(DBP):Aortic valve calcium |
|
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 |
171509327 |
2 |
PRRC2C |
G |
A |
exonic |
nonsynonymous SNV |
PRRC2C:NM_015172:exon16:c.G2716A:p.A906T |
RS760644 |
Simpson-Angus Scale |
|
1 |
171511039 |
2 |
PRRC2C |
C |
G |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S |
RS1687064 |
Triglycerides:Biploar disorder
(bipolar schizoaffective disorder):Triglycerides change with statins:Serum
creatinine:Body mass index (BMI) |
|
1 |
171514731 |
2 |
PRRC2C |
C |
G |
exonic |
nonsynonymous SNV |
PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C |
RS235468 |
Triglycerides change with
statins:Serum creatinine:Body mass index (BMI) |
|
1 |
171526570 |
2 |
PRRC2C |
G |
A |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P |
RS1687057 |
Simpson-Angus Scale:Triglycerides
change with statins:Serum creatinine:Body mass index (BMI):College
completion:Years of education |
|
1 |
171556165 |
2 |
PRRC2C |
G |
C |
exonic |
synonymous SNV |
PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S |
RS235501 |
Simpson-Angus Scale:Triglycerides
change with statins:Serum creatinine:Body mass index (BMI):College
completion:Years of education |
|
1 |
171751236 |
2 |
METTL13 |
T |
C |
exonic |
synonymous SNV |
METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H |
RS2294720 |
Recurrent early onset major
depressive disorder:Recurrent early onset major depressive disorder
(males):Urinary albumin-to-creatinine ratio:Microalbuminuria:Parkinson's
disease |
|
1 |
171753039 |
2 |
METTL13 |
A |
G |
exonic |
nonsynonymous SNV |
METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V |
RS2232816 |
Schizophrenia:Waist hip ratio:Gene
expression of KIAA0859 in blood:Serum ratio of (caproate
(6:0))/(glycerol):Bipolar disorder:Refractive error:Parkinson's disease |
|
1 |
171755170 |
2 |
METTL13 |
G |
A |
exonic |
synonymous SNV |
METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S |
RS2232818 |
Waist hip ratio:Bipolar
disorder:Parkinson's disease:Refractive error |
|
1 |
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 |
179852074 |
2 |
TOR1AIP1 |
T |
C |
exonic |
nonsynonymous SNV |
TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T |
RS1281378 |
Years of education:College
completion |
|
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 |
180243524 |
2 |
LHX4 |
A |
G |
exonic |
nonsynonymous SNV |
LHX4:NM_033343:exon6:c.A983G:p.N328S |
RS7536561 |
Arthritis including
non-Rheumatoid:Triglycerides:Urinary albumin-to-creatinine ratio:Gene
expression of QSOX1 in blood:Serum ratio of
(3-methylhistidine)/(arabinose):Mitral annular calcium |
|
1 |
181058313 |
2 |
IER5 |
G |
A |
exonic |
nonsynonymous SNV |
IER5:NM_016545:exon1:c.G275A:p.R92H |
|
1 |
182356399 |
2 |
GLUL |
A |
G |
exonic |
synonymous SNV |
GLUL:NM_001033044:exon3:c.T195C:p.S65S,GLUL:NM_001033056:exon3:c.T195C:p.S65S,GLUL:NM_002065:exon4:c.T195C:p.S65S |
RS1058111 |
HDL cholesterol:HDL
cholesterol:Obesity with early age of onset (age >2) |
|
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 |
184020945 |
2 |
TSEN15 |
G |
A |
exonic |
nonsynonymous SNV |
TSEN15:NM_001127394:exon1:c.G56A:p.G19D,TSEN15:NM_001300764:exon1:c.G56A:p.G19D,TSEN15:NM_001300766:exon1:c.G56A:p.G19D,TSEN15:NM_052965:exon1:c.G56A:p.G19D |
RS2274432 |
Height:Height:LDL
cholesterol:Premature ovarian failure:Height:Height:Height:Height
(adults):HDL cholesterol:Height:Waist hip ratio:C1orf19 gene expression in
omental adipose tissue:Gene expression of TSEN15 in blood:Gene expression of
GLT25D2 in blood:Myopia |
|
1 |
184023529 |
2 |
TSEN15 |
A |
C |
exonic |
nonsynonymous SNV |
TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_001300764:exon2:c.A177C:p.Q59H,TSEN15:NM_001300766:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H |
RS1046934 |
Height:Gene expression of C1orf19
in liver:LDL cholesterol:Premature ovarian failure:HDL
cholesterol:Height:Gene expression:Waist hip ratio:Gene expression of GLT25D2
in blood:Gene expression of TSEN15 in blood:Serum ratio of
(lathosterol)/(scyllo-inositol):Height:Height:Height:Myopia |
|
1 |
196642233 |
2 |
CFH |
G |
A |
exonic |
nonsynonymous SNV |
CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I |
RS800292 |
HDL cholesterol change with
statins:Lp-PLA2 mass:Age-related macular degeneration:Serum concentration of
HWESASXX*:Serum concentration of stachydrine:Exudative age-related macular
degeneration:Systolic blood pressure (SBP):Age-related macular degeneration:Sporadic
Creutzfeldt-Jakob disease:Age-related macular degeneration in never
smokers:Refractive error:Age-related macular degeneration (Stage 5
ARMD):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression change of KCNT2
(ENSG00000162687) in dendritic cells after treatment with Mycobacterium
tuberculosis:Age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy):Factor XIII B subunit:Gene expression of
KCNT2 (ENSG00000162687) in dendritic cells treated with Mycobacterium
tuberculosis:Age-related macular degeneration:Factor XIII A subunit:Advanced
age-related macular degeneration:Age-related macular degeneration in ever
smokers:Serum myeloperoxidase levels:Serum C3a-desArg |
|
1 |
196654324 |
2 |
CFH |
A |
C |
exonic |
synonymous SNV |
CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A |
RS1061147 |
HDL cholesterol:Meningococcal
disease:Bipolar disorder:Advanced age-related macular degeneration
(geographic atrophy):Refractive error:Age-related macular
degeneration:Age-related macular degeneration:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Obesity with early age of onset (age >2) |
|
1 |
196659237 |
2 |
CFH |
C |
T |
exonic |
nonsynonymous SNV |
CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y |
RS1061170 |
HDL cholesterol:Age-related macular
degeneration:Advanced age-related macular degeneration:Age-related macular
degeneration:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (geographic atrophy):Serum myeloperoxidase levels:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration (choroidal
neovascularization):Advanced age-related macular degeneration (geographic
atrophy) |
|
1 |
197009798 |
2 |
F13B |
A |
G |
exonic |
synonymous SNV |
F13B:NM_001994:exon11:c.T1806C:p.N602N |
RS5998 |
LDL cholesterol:HDL
cholesterol:Aortic valve calcium:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Erectile dysfunction in Type 1
diabetes:Advanced age-related macular degeneration:Adiponectin levels:Factor
XIII B subunit:Factor XIII A subunit |
|
1 |
197031021 |
2 |
F13B |
C |
T |
exonic |
nonsynonymous SNV |
F13B:NM_001994:exon3:c.G344A:p.R115H |
RS6003 |
Age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Years of education:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration:Tetrology of fallot:Obesity with early age of onset (age >2) |
|
1 |
197070815 |
2 |
ASPM |
T |
C |
exonic |
synonymous SNV |
ASPM:NM_018136:exon18:c.A7566G:p.L2522L |
RS1412640 |
Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Obesity with early age of onset (age
>2):Advanced age-related macular degeneration (geographic atrophy):Years
of education |
|
1 |
197070901 |
2 |
ASPM |
A |
G |
exonic |
nonsynonymous SNV |
ASPM:NM_018136:exon18:c.T7480C:p.Y2494H |
|
1 |
197091537 |
2 |
ASPM |
A |
T |
exonic |
synonymous SNV |
ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S |
RS4915337 |
Age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Years of education:Advanced age-related
macular degeneration (geographic atrophy):Obesity with early age of onset
(age >2):Advanced age-related macular degeneration |
|
1 |
197112533 |
2 |
ASPM |
G |
A |
exonic |
synonymous SNV |
ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S |
RS6677082 |
Age-related macular
degeneration:Advanced age-related macular degeneration:Years of
education:Obesity with early age of onset (age >2):Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
200880978 |
2 |
C1orf106 |
C |
T |
exonic |
nonsynonymous SNV |
C1orf106:NM_001142569:exon9:c.C1357T:p.R453C,C1orf106:NM_018265:exon9:c.C1654T:p.R552C |
|
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 |
201860626 |
2 |
SHISA4 |
A |
G |
exonic |
nonsynonymous SNV |
SHISA4:NM_198149:exon4:c.A477G:p.I159M |
RS2250377 |
2 hour glucose:Chronic kidney
disease:Body mass index (BMI):Serum ratio of
(1-palmitoylglycerophosphoinositol*)/(nonadecanoate (19:0)):Hypertension
(early onset hypertension):Breast size (bra cup size in women):Years of
education:Diabetic retinopathy in Type 2 diabetes mellitus |
|
1 |
201970562 |
2 |
RNPEP |
T |
C |
exonic |
synonymous SNV |
RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V |
|
1 |
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 |
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 |
205492756 |
2 |
CDK18 |
A |
G |
exonic |
synonymous SNV |
CDK18:NM_212503:exon3:c.A276G:p.V92V |
RS7529442 |
Triglycerides:Urinary
albumin-to-creatinine ratio:PROP taste detection threshold:Refractive error |
|
1 |
205779231 |
2 |
SLC41A1 |
G |
A |
exonic |
synonymous SNV |
SLC41A1:NM_173854:exon2:c.C339T:p.T113T |
RS11240569 |
Methylation levels at
chr1:204085802-204085852 [hg18 coord, probe cg14159672] in Temporal
cortex:Methylation levels at chr1:204085802-204085852 [hg18 coord, probe
cg14159672] in Caudal pons:Adiponectin levels |
|
1 |
206516261 |
1 |
SRGAP2 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
206647742 |
2 |
IKBKE |
A |
G |
exonic |
synonymous SNV |
IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q |
|
1 |
206647787 |
2 |
IKBKE |
T |
C |
exonic |
synonymous SNV |
IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I |
RS1539243 |
Arthritis including
non-Rheumatoid:Gene expression of IKBKE in peripheral blood
monocytes:Autism:Body mass index (BMI):Gene expression of IKBKE///C1orf147 in
blood:Gene expression of [probe 3130152 centered at chr1:204744311] in
blood:Serum concentration of pantothenate:Coronary artery disease (CAD) |
|
1 |
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 |
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 |
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 |
212900487 |
2 |
NSL1 |
A |
G |
exonic |
synonymous SNV |
NSL1:NM_001297739:exon5:c.T534C:p.V178V |
RS2244935 |
LDL cholesterol:HDL cholesterol:HDL
cholesterol change with statins:Autism:Late onset Alzheimer's
disease:Rheumatoid arthritis:Gene expression of ENST00000356684 in blood:Gene
expression of NSL1 in blood:Serum ratio of (10-heptadecenoate
(17:1n7))/(dihomo-linoleate (20:2n6)):Comorbid depressive syndrome and
alcohol dependence |
|
1 |
213068595 |
2 |
FLVCR1 |
C |
T |
exonic |
nonsynonymous SNV |
FLVCR1:NM_014053:exon10:c.C1631T:p.T544M |
RS3207090 |
Gene expression of LQK1 [probe
235126_at] in lymphoblastoid cell lines:Eye color:Stabilized warfarin
dose:HDL cholesterol:Gene expression of FLVCR1 in peripheral blood
monocytes:Gene expression of NSL1 in peripheral blood monocytes:HDL
cholesterol:Gene expression of LOC149643 in CD4+ lymphocytes:Gene expression
of FLVCR1 in blood:Gene expression of ENST00000356684 in blood:Gene
expression of NSL1 in blood:Serum ratio of
(7-methylxanthine)/(gamma-tocopherol):Gene expression of LQK1 [probeset
235126_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of
NSL1 in normal prepouch ileum:Gene expression of FLVCR1-AS1 in normal
prepouch ileum |
|
1 |
214826196 |
2 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon16:c.G8186A:p.R2729Q |
RS335524 |
Stabilized warfarin
dose:Longstanding arthritis:Height:Adiponectin levels:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight |
|
1 |
214830617 |
2 |
CENPF |
A |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon18:c.A8827G:p.R2943G |
RS438034 |
Neuroblastoma (brain
cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy
(progression free survival):Serum ratio of (3-phenylpropionate
(hydrocinnamate))/(androsterone sulfate):Topiramate plasma level change in
healthy volunteers in response to topiramate treatment:Multiple myeloma:Birth
weight:Adiponectin levels |
|
1 |
214837110 |
2 |
CENPF |
C |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon20:c.C9318G:p.N3106K |
RS7289 |
Lp-PLA2 mass:Birth
weight:Adiponectin levels |
|
1 |
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 |
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 |
223900408 |
2 |
CAPN2 |
C |
G |
exonic |
nonsynonymous SNV |
CAPN2:NM_001748:exon1:c.C66G:p.D22E |
|
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 |
225974581 |
1 |
SRP9 |
A |
G |
exonic |
synonymous SNV |
SRP9:NM_001130440:exon3:c.A159G:p.L53L |
|
1 |
225974614 |
1 |
SRP9 |
A |
G |
exonic |
nonsynonymous SNV |
SRP9:NM_001130440:exon3:c.A192G:p.I64M |
|
1 |
225974645 |
1 |
SRP9 |
A |
G |
exonic |
nonsynonymous SNV |
SRP9:NM_001130440:exon3:c.A223G:p.S75G |
|
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 |
228588680 |
2 |
TRIM11 |
A |
C |
exonic |
synonymous SNV |
TRIM11:NM_145214:exon3:c.T720G:p.A240A |
|
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 |
229772932 |
2 |
URB2 |
A |
G |
exonic |
nonsynonymous SNV |
URB2:NM_001314021:exon4:c.A2572G:p.K858E,URB2:NM_014777:exon4:c.A2572G:p.K858E |
RS3811474 |
Transmission distortion:Parkinson's
disease |
|
1 |
229773441 |
2 |
URB2 |
C |
T |
exonic |
synonymous SNV |
URB2:NM_001314021:exon4:c.C3081T:p.T1027T,URB2:NM_014777:exon4:c.C3081T:p.T1027T |
|
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 |
230841687 |
2 |
AGT |
T |
C |
exonic |
synonymous SNV |
AGT:NM_000029:exon3:c.A1116G:p.L372L |
|
1 |
231042732 |
2 |
TTC13 |
T |
A |
exonic |
synonymous SNV |
TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V |
RS3811502 |
2 hour
glucose:HOMA-B:HOMA-IR:Fasting insulin:LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration (geographic
atrophy):Parkinson's disease |
|
1 |
235652513 |
2 |
B3GALNT2 |
T |
C |
exonic |
synonymous SNV |
B3GALNT2:NM_152490:exon3:c.A321G:p.E107E,B3GALNT2:NM_001277155:exon4:c.A444G:p.E148E |
RS291396 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Rheumatoid
arthritis:Height:College completion:Parkinson's disease:Years of education |
|
1 |
235715523 |
2 |
GNG4 |
A |
G |
exonic |
synonymous SNV |
GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A |
RS14326 |
Comorbid depressive syndrome and
alcohol dependence:College completion:Years of education |
|
1 |
236208773 |
2 |
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 |
236381825 |
2 |
ERO1B |
G |
C |
exonic |
nonsynonymous SNV |
ERO1B:NM_019891:exon16:c.C1395G:p.H465Q |
RS1055851 |
Gene expression of ERO1LB [probe
220012_at] in lymphoblastoid cell lines |
|
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 |
236719135 |
2 |
HEATR1 |
T |
C |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon39:c.A5619G:p.E1873E |
|
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 |
236746443 |
2 |
HEATR1 |
C |
T |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon18:c.G2295A:p.V765V |
RS2794768 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection
threshold:Years of education:Salmonella-induced pyroptosis:College completion |
|
1 |
236748505 |
2 |
HEATR1 |
T |
C |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon17:c.A2061G:p.L687L |
RS1006456 |
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 |
236755837 |
2 |
HEATR1 |
C |
T |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon10:c.G1290A:p.R430R |
RS2564739 |
LDL cholesterol:HDL cholesterol
change with statins:PROP taste detection threshold:College completion:Years
of education |
|
1 |
236758887 |
2 |
HEATR1 |
T |
C |
exonic |
nonsynonymous SNV |
HEATR1:NM_018072:exon8:c.A1043G:p.H348R |
RS2794751 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change
with statins:Asthma:PROP taste detection threshold:College
completion:Transmission distortion:Salmonella-induced pyroptosis:Years of
education:Paternal transmission distortion |
|
1 |
236767330 |
2 |
HEATR1 |
A |
G |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon2:c.T66C:p.S22S |
RS10802551 |
Gene expression of HEATR1 [probe
232414_at] in lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol
change with statins:HDL cholesterol:Total cholesterol:Years of
education:College completion:Obesity with early age of onset (age >2) |
|
1 |
242030151 |
2 |
EXO1 |
A |
G |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_001319224:exon10:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R |
RS735943 |
LDL cholesterol:Late onset
Alzheimer's disease:Serum concentration of
1-palmitoylglycerophosphoinositol*:Serum concentration of
succinylcarnitine:Age at death with kuru exposure:Variant Creutzfeldt-Jakob
disease |
|
1 |
242042545 |
2 |
EXO1 |
A |
G |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon11:c.A2009G:p.E670G,EXO1:NM_006027:exon11:c.A2009G:p.E670G,EXO1:NM_001319224:exon12:c.A2006G:p.E669G,EXO1:NM_130398:exon13:c.A2009G:p.E670G |
RS1776148 |
Hip bone mineral density
(BMD):Schizophrenia:Sporadic amyotrophic lateral sclerosis (ALS):Sporadic
amyotrophic lateral sclerosis (ALS):Resistance to kuru in aged women despite
likely exposure:College completion:Amyotrophic lateral sclerosis (ALS) |
|
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 |
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 |
247150740 |
2 |
ZNF695 |
T |
C |
exonic |
synonymous SNV |
ZNF695:NM_020394:exon4:c.A1077G:p.K359K |
RS3749427 |
LDL cholesterol:Cystatin C in
serum:Gene expression of ZNF670 in normal prepouch ileum |
|
1 |
247162658 |
2 |
ZNF695 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF695:NM_001204221:exon3:c.G251A:p.R84K,ZNF695:NM_020394:exon3:c.G251A:p.R84K |
RS2642973 |
Cystatin C in serum:Sporadic
Creutzfeldt-Jakob disease |
|
2 |
6995315 |
2 |
|
2 |
7154632 |
2 |
RNF144A |
T |
C |
exonic |
synonymous SNV |
RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T |
|
2 |
8870862 |
1 |
KIDINS220 |
T |
C |
exonic |
synonymous SNV |
KIDINS220:NM_001348734:exon28:c.A5136G:p.E1712E,KIDINS220:NM_001348735:exon28:c.A5133G:p.E1711E,KIDINS220:NM_001348731:exon29:c.A5250G:p.E1750E,KIDINS220:NM_001348732:exon29:c.A5247G:p.E1749E,KIDINS220:NM_001348736:exon29:c.A5007G:p.E1669E,KIDINS220:NM_001348729:exon30:c.A5307G:p.E1769E,KIDINS220:NM_020738:exon30:c.A5304G:p.E1768E |
|
2 |
10045014 |
2 |
TAF1B |
C |
T |
exonic |
synonymous SNV |
TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y |
RS400917 |
Refractive error |
|
2 |
10045024 |
2 |
TAF1B |
G |
A |
exonic |
nonsynonymous SNV |
TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I |
|
2 |
10050947 |
2 |
TAF1B |
T |
C |
exonic |
synonymous SNV |
TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A |
RS1054561 |
HDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of TAF1B in
normal prepouch ileum |
|
2 |
10050960 |
2 |
TAF1B |
A |
G |
exonic |
nonsynonymous SNV |
TAF1B:NM_001318977:exon9:c.A286G:p.T96A,TAF1B:NM_001318976:exon10:c.A286G:p.T96A,TAF1B:NM_005680:exon10:c.A1051G:p.T351A |
RS1054565 |
Differential exon level expression
of TAF1B [probe 2469139] in brain cortex:Differential exon level expression
of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Total
cholesterol change with statins:HDL cholesterol change with statins:Serum concentration
of glucose:Hypertension (early onset hypertension) |
|
2 |
10059770 |
2 |
TAF1B |
G |
T |
exonic |
nonsynonymous SNV |
TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D |
RS1820965 |
Differential exon level expression
of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Differential
exon level expression of TAF1B [probe 2469139] in brain cortex:Total
cholesterol change with statins:Gene expression of KLF11 in blood:Gene expression
of TAF1B in blood:Age at death with kuru exposure:Hypertension (early onset
hypertension):Adiponectin levels:Gene expression of TAF1B in normal prepouch
ileum:Birth weight:Allele-specific Expression Patterns in human glioblastoma
cell line U87MG |
|
2 |
10717806 |
1 |
NOL10 |
C |
T |
exonic |
nonsynonymous SNV |
NOL10:NM_001261392:exon19:c.G1825A:p.D609N,NOL10:NM_001261394:exon19:c.G1753A:p.D585N,NOL10:NM_024894:exon20:c.G1903A:p.D635N |
RS2287059 |
Serum ratio of (p-cresol
sulfate)/(pyroglutamylglycine):Serum ratio of
(lathosterol)/(threonate):College completion |
|
2 |
11702661 |
2 |
GREB1 |
A |
C |
exonic |
nonsynonymous SNV |
GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T |
RS10929757 |
Gene expression of GREB1 [probe
2469825] in brain cortex:Differential exon level expression of GREB1 [probe
2469866] in brain cortex:Premature ovarian failure:Abnormal Involuntary
Movement Scale:Total cholesterol:Serum creatinine:HDL cholesterol:Variant Creutzfeldt-Jakob
disease:Primary rhegmatogenous retinal detachment |
|
2 |
11752635 |
2 |
GREB1 |
T |
C |
exonic |
synonymous SNV |
GREB1:NM_014668:exon19:c.T3021C:p.I1007I |
|
2 |
15747393 |
2 |
DDX1 |
C |
T |
exonic |
synonymous SNV |
DDX1:NM_004939:exon13:c.C912T:p.N304N |
RS10929378 |
Serum creatinine:College completion |
|
2 |
17942775 |
2 |
GEN1 |
T |
A |
exonic |
nonsynonymous SNV |
GEN1:NM_001130009:exon3:c.T274A:p.S92T,GEN1:NM_182625:exon3:c.T274A:p.S92T |
RS1812152 |
Gene expression change of GEN1
(ENSG00000178295) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
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 |
17962450 |
2 |
GEN1 |
A |
G |
exonic |
synonymous SNV |
GEN1:NM_001130009:exon14:c.A1971G:p.E657E,GEN1:NM_182625:exon14:c.A1971G:p.E657E |
RS300168 |
Gene expression of HSS00374044 in
liver:LDL cholesterol change with statins:Cystatin C in serum:Gene expression
of GEN1 in normal prepouch ileum:Gene expression of GEN1 (probeID
ILMN_2206282) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of GEN1 (probeID ILMN_2206282) in cerebellum in Alzheimer's
disease cases and controls:Adiponectin levels |
|
2 |
17962518 |
2 |
GEN1 |
C |
T |
exonic |
nonsynonymous SNV |
GEN1:NM_001130009:exon14:c.C2039T:p.T680I,GEN1:NM_182625:exon14:c.C2039T:p.T680I |
RS300169 |
Primary rhegmatogenous retinal
detachment:Maternal transmission distortion |
|
2 |
20135283 |
2 |
WDR35 |
T |
C |
exonic |
synonymous SNV |
WDR35:NM_020779:exon21:c.A2496G:p.E832E,WDR35:NM_001006657:exon22:c.A2529G:p.E843E |
RS6741091 |
Serum creatinine |
|
2 |
20205680 |
2 |
MATN3 |
C |
T |
exonic |
synonymous SNV |
MATN3:NM_002381:exon2:c.G615A:p.E205E |
|
2 |
20205848 |
2 |
MATN3 |
G |
A |
exonic |
synonymous SNV |
MATN3:NM_002381:exon2:c.C447T:p.A149A |
|
2 |
20403794 |
2 |
SDC1 |
A |
T |
exonic |
nonsynonymous SNV |
SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q |
|
2 |
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 |
21235475 |
2 |
APOB |
T |
C |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon26:c.A4265G:p.Y1422C |
|
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 |
24384424 |
2 |
FAM228B |
T |
C |
exonic |
unknown |
UNKNOWN |
RS4665667 |
Total
cholesterol:Microalbuminuria: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 |
24929851 |
1 |
NCOA1 |
A |
T |
exonic |
synonymous SNV |
NCOA1:NM_003743:exon11:c.A1512T:p.P504P,NCOA1:NM_147223:exon11:c.A1512T:p.P504P,NCOA1:NM_147233:exon11:c.A1512T:p.P504P |
RS3731628 |
Fasting blood glucose:HOMA-B:Serum
creatinine:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
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 |
25050977 |
2 |
ADCY3 |
T |
C |
exonic |
synonymous SNV |
ADCY3:NM_001320613:exon14:c.A2226G:p.E742E,ADCY3:NM_004036:exon14:c.A2226G:p.E742E |
|
2 |
26203678 |
2 |
KIF3C |
T |
C |
exonic |
nonsynonymous SNV |
KIF3C:NM_002254:exon1:c.A1109G:p.Q370R |
|
2 |
26590084 |
1 |
SELENOI |
T |
G |
exonic |
unknown |
UNKNOWN |
RS6748996 |
HDL cholesterol:Chronic kidney
disease:HDL cholesterol:LDL cholesterol:Microalbuminuria:Aortic valve calcium |
|
2 |
27169842 |
1 |
DPYSL5 |
C |
A |
exonic |
synonymous SNV |
DPYSL5:NM_001253723:exon13:c.C1674A:p.G558G,DPYSL5:NM_001253724:exon13:c.C1674A:p.G558G,DPYSL5:NM_020134:exon13:c.C1674A:p.G558G |
RS11126784 |
HDL cholesterol:Fasting blood
glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Bipolar disorder:Diabetic
retinopathy in Type 2 diabetes mellitus:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
2 |
27246285 |
2 |
MAPRE3 |
C |
T |
exonic |
synonymous SNV |
MAPRE3:NM_001303050:exon3:c.C207T:p.H69H,MAPRE3:NM_012326:exon3:c.C207T:p.H69H |
RS10865456 |
Diabetic retinopathy in Type 2
diabetes mellitus |
|
2 |
27260469 |
1 |
TMEM214 |
G |
A |
exonic |
nonsynonymous SNV |
TMEM214:NM_001083590:exon8:c.G916A:p.V306M,TMEM214:NM_017727:exon9:c.G1051A:p.V351M |
RS1124649 |
HDL
cholesterol:Schizophrenia:Fasting blood glucose:LDL cholesterol:HDL
cholesterol:Gene expression of [probe 2850546 centered at chr2:27126125] in
blood:Gene expression of KHK in blood:Gene expression of KHK///CGREF1 in
blood:Serum ratio of (gamma-glutamylthreonine*)/(myo-inositol):Diastolic
blood pressure (DBP):Bipolar disorder:Gene expression of MAPRE3
(ENSG00000084764) in dendritic cells:Fasting blood glucose:Gene expression
change of PREB (ENSG00000138073) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
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 |
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 |
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 |
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 |
33585796 |
2 |
LTBP1 |
T |
C |
exonic |
nonsynonymous SNV |
LTBP1:NM_001166264:exon22:c.T3029C:p.V1010A,LTBP1:NM_001166266:exon22:c.T2870C:p.V957A,LTBP1:NM_000627:exon23:c.T3155C:p.V1052A,LTBP1:NM_001166265:exon23:c.T2996C:p.V999A,LTBP1:NM_206943:exon27:c.T4133C:p.V1378A |
|
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 |
37241050 |
1 |
HEATR5B |
G |
A |
exonic |
synonymous SNV |
HEATR5B:NM_019024:exon27:c.C4218T:p.S1406S |
|
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 |
39025555 |
1 |
DHX57 |
G |
A |
exonic |
synonymous SNV |
DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C |
RS1530853 |
Rheumatoid arthritis:HDL
cholesterol:Differential exon level expression of GALM [probe 2477960] in
peripheral blood mononuclear cells:Gene expression of GALM in
blood:Parkinson's disease |
|
2 |
39082344 |
1 |
DHX57 |
T |
C |
exonic |
nonsynonymous SNV |
DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S |
RS7598922 |
Rheumatoid arthritis:Arthritis
including non-Rheumatoid:Longstanding arthritis:Schizophrenia:Cystatin C in
serum:Gene expression of GALM in blood:Gene expression of GEMIN6 in
blood:Serum ratio of (myristate (14:0))/(palmitate (16:0)):Parkinson's
disease |
|
2 |
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 |
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 |
43452183 |
1 |
ZFP36L2 |
A |
G |
exonic |
synonymous SNV |
ZFP36L2:NM_006887:exon2:c.T760C:p.L254L |
RS7933 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:HDL cholesterol change with statins:Serum
creatinine:Waist hip ratio |
|
2 |
43797619 |
1 |
THADA |
C |
T |
exonic |
nonsynonymous SNV |
THADA:NM_001083953:exon14:c.G2095A:p.V699I,THADA:NM_001271643:exon14:c.G2095A:p.V699I,THADA:NM_001271644:exon14:c.G2095A:p.V699I,THADA:NM_001345923:exon14:c.G2095A:p.V699I,THADA:NM_001345924:exon14:c.G1975A:p.V659I,THADA:NM_022065:exon14:c.G2095A:p.V699I,THADA:NM_001345925:exon15:c.G2095A:p.V699I |
RS17031056 |
HDL cholesterol:Simpson-Angus
Scale:Advanced age-related macular degeneration (geographic atrophy) |
|
2 |
46618321 |
2 |
|
2 |
47601106 |
2 |
EPCAM |
T |
C |
exonic |
nonsynonymous SNV |
EPCAM:NM_002354:exon3:c.T344C:p.M115T |
RS1126497 |
Asthma:Gene expression of KCNK12 in
blood:Serum ratio of (cysteine-glutathione disulfide)/(pyridoxate):Infant
head circumference:Birth weight |
|
2 |
48751471 |
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 |
55912120 |
1 |
PNPT1 |
T |
C |
exonic |
nonsynonymous SNV |
PNPT1:NM_033109:exon4:c.A361G:p.I121V |
RS782572 |
HDL cholesterol:HDL
cholesterol:Total cholesterol:LDL cholesterol:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP) |
|
2 |
58388696 |
2 |
FANCL |
A |
G |
exonic |
synonymous SNV |
FANCL:NM_001114636:exon12:c.T996C:p.S332S,FANCL:NM_018062:exon12:c.T981C:p.S327S |
RS848291 |
Irritible bowel syndrome:Bipolar
disorder:Major depressive disorder:Fasting blood glucose:HOMA-IR:Bipolar
disorder |
|
2 |
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 |
61647901 |
1 |
USP34 |
A |
G |
exonic |
synonymous SNV |
USP34:NM_014709:exon2:c.T111C:p.Y37Y |
RS778155 |
Gene expression of LOC339803 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of AHSA2 in
CEU-CHB-JPT lymphoblastoid cell lines:Total cholesterol change with
statins:Total cholesterol:LDL cholesterol:Gene expression of LOC339803 in
normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus |
|
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 |
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 |
64327592 |
1 |
PELI1 |
T |
C |
exonic |
synonymous SNV |
PELI1:NM_020651:exon4:c.A243G:p.L81L |
RS329497 |
Eye color:Irritible bowel
syndrome:Triglycerides:LDL cholesterol:HDL cholesterol:Differential exon
level expression of PELI1 [probe 2556313] in brain cortex:Differential exon
level expression of PELI1 [probe 2556313] in peripheral blood mononuclear
cells:HDL cholesterol change with statins:Gene expression of PELI1 in
blood:Gene expression of PELI1 in normal prepouch ileum:Birth weight |
|
2 |
69741854 |
2 |
AAK1 |
T |
G |
exonic |
nonsynonymous SNV |
AAK1:NM_014911:exon13:c.A1525C:p.K509Q |
|
2 |
70162534 |
2 |
MXD1 |
T |
G |
exonic |
synonymous SNV |
MXD1:NM_001202514:exon3:c.T225G:p.L75L,MXD1:NM_001202513:exon4:c.T255G:p.L85L,MXD1:NM_002357:exon4:c.T255G:p.L85L |
RS11126250 |
HDL cholesterol |
|
2 |
70524577 |
1 |
FAM136A |
G |
A |
exonic |
synonymous SNV |
FAM136A:NM_001329752:exon3:c.C582T:p.N194N,FAM136A:NM_001329753:exon3:c.C516T:p.N172N,FAM136A:NM_001329755:exon3:c.C168T:p.N56N,FAM136A:NM_032822:exon3:c.C261T:p.N87N,FAM136A:NM_001329757:exon4:c.C168T:p.N56N,FAM136A:NM_001329758:exon4:c.C168T:p.N56N |
|
2 |
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 |
73226090 |
1 |
SFXN5 |
G |
A |
exonic |
nonsynonymous SNV |
SFXN5:NM_001330412:exon9:c.C92T:p.P31L,SFXN5:NM_001330411:exon10:c.C92T:p.P31L |
RS12233055 |
Rheumatoid arthritis:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP) |
|
2 |
73492614 |
1 |
FBXO41 |
A |
T |
exonic |
nonsynonymous SNV |
FBXO41:NM_001080410:exon4:c.T1360A:p.S454T |
|
2 |
74641624 |
2 |
C2orf81 |
G |
C |
exonic |
synonymous SNV |
C2orf81:NM_001316766:exon2:c.C1395G:p.P465P,C2orf81:NM_001316764:exon3:c.C1680G:p.P560P,C2orf81:NM_001316765:exon3:c.C1533G:p.P511P,C2orf81:NM_001145054:exon4:c.C1599G:p.P533P |
RS2240444 |
Gene expression of MRPL53 in JPT
lymphoblastoid cell lines:Height:Diastolic blood pressure (DBP):Adiponectin
levels:Diabetic retinopathy in Type 2 diabetes mellitus |
|
2 |
74687550 |
2 |
WBP1 |
T |
C |
exonic |
synonymous SNV |
WBP1:NM_012477:exon4:c.T552C:p.P184P |
|
2 |
74690039 |
2 |
MOGS |
G |
A |
exonic |
nonsynonymous SNV |
MOGS:NM_006302:exon4:c.C877T:p.P293S,MOGS:NM_001146158:exon5:c.C559T:p.P187S |
RS2268416 |
Gene expression of MRPL53 in JPT
lymphoblastoid cell lines |
|
2 |
74690378 |
2 |
MOGS |
C |
T |
exonic |
nonsynonymous SNV |
MOGS:NM_006302:exon3:c.G715A:p.D239N,MOGS:NM_001146158:exon4:c.G397A:p.D133N |
RS1063588 |
Type 1 diabetes:Gene expression of
MRPL53 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MRPL53
[probe 225523_at] in lymphoblastoid cell lines:Celiac disease:Irritible bowel
syndrome:Differential splicing of GCS1 [probeset 2560131] in lymphoblastoid
cell lines:Schizophrenia:Gene expression of MRPL53 [probe 2560141] in
peripheral blood mononuclear cells:Gene expression of MRPL53 in peripheral
blood monocytes:Gene expression of IL12RB1 in peripheral blood
monocytes:Partial epilepsy:Gene expression of MRPL53 in CD4+
lymphocytes:Asthma:Height:Gene expression of HTRA2///LOXL3 in blood:Gene
expression of MRPL53 in blood:Serum concentration of
1-palmitoylglycerophosphoinositol*:Gene expression change of PCGF1
(ENSG00000115289) in dendritic cells after treatment with Mycobacterium
tuberculosis:Adiponectin levels:Gene expression of MRPL53 in normal prepouch
ileum:Gene expression of PCGF1 (ENSG00000115289) in dendritic cells |
|
2 |
74710491 |
2 |
TTC31 |
C |
T |
exonic |
nonsynonymous SNV |
TTC31:NM_022492:exon2:c.C83T:p.A28V |
RS6707475 |
Gene expression of MRPL53 in JPT
lymphoblastoid cell lines:Gene expression of MRPL53 [probe 225523_at] in
lymphoblastoid cell lines:Celiac disease:Irritible bowel
syndrome:Schizophrenia:Gene expression of MRPL53 [probe 2560141] in
peripheral blood mononuclear cells:Partial epilepsy:Gene expression of MRPL53
in CD4+ lymphocytes:Asthma:Height:Gene expression of LBX2 [probe ILMN_14162]
in osteoblasts with treatment interaction:Gene expression of MRPL53 [probe
ILMN_25576] in osteoblasts treated with BMP2:Gene expression of MRPL53 in
blood:Gene expression of HTRA2///LOXL3 in blood:Adiponectin levels |
|
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 |
74725178 |
2 |
LBX2 |
G |
A |
exonic |
nonsynonymous SNV |
LBX2:NM_001009812:exon2:c.C461T:p.S154F,LBX2:NM_001282430:exon2:c.C473T:p.S158F |
RS17009998 |
Gene expression of MRPL53 in
CEU-CHB-JPT lymphoblastoid cell lines:Height:Gene expression of MRPL53 in
normal prepouch ileum:Adiponectin levels |
|
2 |
75099477 |
1 |
HK2 |
A |
T |
exonic |
nonsynonymous SNV |
HK2:NM_000189:exon4:c.A426T:p.Q142H |
RS2229621 |
Parkinson's disease |
|
2 |
75101454 |
1 |
HK2 |
T |
C |
exonic |
synonymous SNV |
HK2:NM_000189:exon7:c.T753C:p.D251D |
RS2229622 |
Cystatin C in serum |
|
2 |
75185856 |
1 |
POLE4 |
G |
T |
exonic |
nonsynonymous SNV |
POLE4:NM_019896:exon1:c.G50T:p.G17V |
|
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 |
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 |
86683642 |
2 |
KDM3A |
A |
G |
exonic |
nonsynonymous SNV |
KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V |
RS2030259 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Neuroticism:Differential exon level expression
of JMJD1A [probe 2492088] in peripheral blood mononuclear cells:Differential
exon level expression of JMJD1A [probe 2492088] in brain cortex:Fasting blood
glucose:Height:Body mass index (BMI):Gene expression of VPS24 [probe
ILMN_15069] in osteoblasts treated with PGE2:Microalbuminuria:Serum ratio of
(hexanoylcarnitine)/(sebacate (decanedioate)):Serum concentration of
isobutyrylcarnitine:Epilepsy:PROP taste detection threshold:Bipolar disorder |
|
2 |
86691250 |
2 |
KDM3A |
G |
A |
exonic |
synonymous SNV |
KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A |
|
2 |
86697366 |
1 |
KDM3A |
T |
A |
exonic |
nonsynonymous SNV |
KDM3A:NM_001146688:exon11:c.T1559A:p.L520H,KDM3A:NM_018433:exon11:c.T1559A:p.L520H |
|
2 |
86697367 |
1 |
KDM3A |
C |
T |
exonic |
synonymous SNV |
KDM3A:NM_001146688:exon11:c.C1560T:p.L520L,KDM3A:NM_018433:exon11:c.C1560T:p.L520L |
|
2 |
86716770 |
1 |
KDM3A |
A |
G |
exonic |
synonymous SNV |
KDM3A:NM_001146688:exon23:c.A3561G:p.E1187E,KDM3A:NM_018433:exon23:c.A3561G:p.E1187E |
|
2 |
86979093 |
2 |
RMND5A |
G |
A |
exonic |
synonymous SNV |
RMND5A:NM_022780:exon3:c.G360A:p.E120E |
RS10186663 |
Serum creatinine |
|
2 |
88472791 |
2 |
THNSL2 |
G |
A |
exonic |
nonsynonymous SNV |
THNSL2:NM_018271:exon1:c.G122A:p.G41E,THNSL2:NM_001244676:exon2:c.G122A:p.G41E |
RS4129190 |
Differential exon level expression
of THNSL2 [probe 2492816] in brain cortex:Differential exon level expression
of THNSL2 [probe 2492817] in brain cortex:Gene expression of THNSL2 [probe
2492783] in brain cortex:Gene expression of FLJ10916 [probe ILMN_28363] in
osteoblasts:Fasting insulin:Triglycerides change with statins:Rheumatoid
arthritis:Gene expression of FLJ10916 in Caudal pons:Gene expression of
THNSL2 in blood:Bipolar disorder:Gene expression of THNSL2 in liver:Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of THNSL2 in normal
prepouch ileum |
|
2 |
96688707 |
1 |
GPAT2 |
G |
A |
exonic |
nonsynonymous SNV |
GPAT2:NM_001321531:exon19:c.C1961T:p.S654L,GPAT2:NM_001321528:exon20:c.C2222T:p.S741L |
|
2 |
97751523 |
1 |
FAHD2B |
G |
A |
exonic |
nonsynonymous SNV |
FAHD2B:NM_199336:exon5:c.C598T:p.R200C,FAHD2B:NM_001320848:exon6:c.C598T:p.R200C |
|
2 |
97756031 |
1 |
FAHD2B |
A |
G |
exonic |
nonsynonymous SNV |
FAHD2B:NM_001320849:exon3:c.T277C:p.W93R,FAHD2B:NM_199336:exon3:c.T277C:p.W93R,FAHD2B:NM_001320848:exon4:c.T277C:p.W93R |
|
2 |
98129748 |
1 |
ANKRD36B |
T |
G |
exonic |
synonymous SNV |
ANKRD36B:NM_025190:exon38:c.A2700C:p.I900I |
|
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 |
101186088 |
2 |
PDCL3 |
C |
T |
exonic |
synonymous SNV |
PDCL3:NM_024065:exon4:c.C273T:p.F91F |
RS1052117 |
HDL cholesterol change with statins |
|
2 |
101869588 |
1 |
CNOT11 |
G |
T |
exonic |
synonymous SNV |
CNOT11:NM_017546:exon1:c.G162T:p.P54P |
|
2 |
101898412 |
2 |
RNF149 |
G |
C |
exonic |
nonsynonymous SNV |
RNF149:NM_173647:exon6:c.C1068G:p.D356E |
RS13151 |
Refractive error |
|
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 |
109106381 |
2 |
GCC2 |
A |
G |
exonic |
synonymous SNV |
GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q |
RS12104502 |
HDL cholesterol:Methylation levels
at chr2:108431746-108431796 [hg18 coord, probe cg12433691] in Temporal cortex |
|
2 |
109389463 |
2 |
RANBP2 |
G |
A |
exonic |
synonymous SNV |
RANBP2:NM_006267:exon23:c.G8253A:p.E2751E |
|
2 |
109429146 |
2 |
CCDC138 |
T |
A |
exonic |
synonymous SNV |
CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A |
|
2 |
110372192 |
2 |
SOWAHC |
A |
G |
exonic |
synonymous SNV |
SOWAHC:NM_023016:exon1:c.A126G:p.L42L |
|
2 |
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 |
113089267 |
2 |
ZC3H6 |
T |
C |
exonic |
synonymous SNV |
ZC3H6:NM_198581:exon12:c.T2772C:p.N924N |
RS7601200 |
Simpson-Angus Scale:Major
depressive disorder (broad definition):Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition)
(males):HOMA-B:Fasting insulin:Gene expression of IL27RA in peripheral blood
monocytes:Total cholesterol:Diabetic nephropathy in type 2 diabetes mellitus
- end stage renal disease:Serum ratio of
(biliverdin)/(glycochenodeoxycholate):Resistance to kuru in aged women
despite likely exposure:College completion:General white matter integrity factor:Years
of education:Tetrology of fallot:Birth weight |
|
2 |
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 |
114220055 |
1 |
CBWD2 |
T |
C |
exonic |
synonymous SNV |
CBWD2:NM_001330336:exon8:c.T646C:p.L216L,CBWD2:NM_172003:exon8:c.T646C:p.L216L,CBWD2:NM_001330339:exon9:c.T538C:p.L180L,CBWD2:NM_001330342:exon9:c.T142C:p.L48L,CBWD2:NM_001330340:exon10:c.T142C:p.L48L |
RS1210133 |
LDL cholesterol |
|
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 |
120060082 |
1 |
C2orf76 |
T |
C |
exonic |
nonsynonymous SNV |
C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R |
RS1052500 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Microalbuminuria:Gene
expression of STEAP3 in blood:Hypertension (early onset hypertension):Birth
weight:Advanced age-related macular degeneration (geographic atrophy) |
|
2 |
120438523 |
2 |
TMEM177 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V |
|
2 |
120438696 |
2 |
TMEM177 |
A |
G |
exonic |
synonymous SNV |
TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q |
|
2 |
120439230 |
2 |
TMEM177 |
C |
G |
exonic |
nonsynonymous SNV |
TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E |
RS1983406 |
2 hour glucose:Gene expression of
TMEM177 [transcript NM_030577, probe A_23_P5339] in liver:Comorbid depressive
syndrome and alcohol dependence:Type 2 diabetes |
|
2 |
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 |
135711516 |
2 |
CCNT2 |
C |
T |
exonic |
synonymous SNV |
CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D |
RS3814355 |
HOMA-IR:Fasting insulin:Serum
creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass
index (BMI):Systolic blood pressure (SBP):Advanced age-related macular
degeneration (geographic atrophy):Parkinson's disease:Gene expression of LCT
in normal prepouch ileum |
|
2 |
135711657 |
2 |
CCNT2 |
G |
A |
exonic |
synonymous SNV |
CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K,CCNT2:NM_001320748:exon10:c.G1200A:p.K400K,CCNT2:NM_001320749:exon10:c.G1107A:p.K369K |
RS3814354 |
HOMA-IR:Fasting insulin:Serum
creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass
index (BMI):Systolic blood pressure (SBP):Gene expression of LCT in normal
prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Parkinson's
disease |
|
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 |
135988186 |
1 |
ZRANB3 |
G |
A |
exonic |
synonymous SNV |
ZRANB3:NM_001286568:exon13:c.C1851T:p.T617T,ZRANB3:NM_032143:exon13:c.C1851T:p.T617T,ZRANB3:NM_001286569:exon14:c.C489T:p.T163T |
|
2 |
143798189 |
2 |
KYNU |
A |
G |
exonic |
nonsynonymous SNV |
KYNU:NM_003937:exon13:c.A1234G:p.K412E,KYNU:NM_001199241:exon14:c.A1234G:p.K412E |
RS9013 |
Gene expression of KYNU in
blood:Hypertension (early onset hypertension):Aortic valve calcium |
|
2 |
144899559 |
2 |
GTDC1 |
C |
A |
exonic |
nonsynonymous SNV |
GTDC1:NM_001284233:exon4:c.G411T:p.M137I,GTDC1:NM_001284234:exon4:c.G24T:p.M8I,GTDC1:NM_001006636:exon6:c.G411T:p.M137I,GTDC1:NM_001164629:exon6:c.G411T:p.M137I,GTDC1:NM_001284235:exon6:c.G411T:p.M137I,GTDC1:NM_024659:exon6:c.G411T:p.M137I,GTDC1:NM_001284238:exon8:c.G315T:p.M105I |
RS3731958 |
Lp-PLA2 mass:Prostate cancer:Mitral
annular calcium |
|
2 |
152018832 |
2 |
|
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 |
157406249 |
2 |
GPD2 |
G |
A |
exonic |
nonsynonymous SNV |
GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H |
RS2116665 |
HDL cholesterol:Total cholesterol
change with statins:LDL cholesterol:LDL cholesterol change with
statins:Myopia:Refractive error:Obesity with early age of onset (age >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 |
158636910 |
1 |
ACVR1 |
G |
A |
exonic |
synonymous SNV |
ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A |
|
2 |
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 |
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 |
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 |
166165901 |
2 |
SCN2A |
G |
A |
exonic |
synonymous SNV |
SCN2A:NM_001040142:exon6:c.G645A:p.A215A,SCN2A:NM_021007:exon6:c.G645A:p.A215A |
|
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 |
171627676 |
2 |
ERICH2 |
T |
G |
exonic |
nonsynonymous SNV |
ERICH2:NM_001290030:exon1:c.T485G:p.L162R,ERICH2:NM_001290031:exon1:c.T485G:p.L162R |
|
2 |
171822466 |
2 |
GORASP2 |
C |
T |
exonic |
synonymous SNV |
GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S |
RS4668356 |
Hip bone mineral density
(BMD):Paired associates learning total errors 8 patterns:HOMA-IR:Exceptional
Longevity:Body mass index (BMI):Serum ratio of (glycine)/(n-Butyl
Oleate):Tourette's syndrome:Primary rhegmatogenous retinal detachment |
|
2 |
172180771 |
2 |
METTL8 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
2 |
172725301 |
2 |
SLC25A12 |
A |
G |
exonic |
synonymous SNV |
SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y |
RS1878583 |
Xylose:trans-Aconitate:Serum ratio
of (arabinose)/(indolepropionate):Serum ratio of (1-stearoylglycerol
(1-monostearin))/(1,7-dimethylurate):Hypertension (early onset
hypertension):Transmission distortion:Maternal transmission
distortion:Obesity with early age of onset (age >2) |
|
2 |
173352103 |
1 |
ITGA6 |
C |
T |
exonic |
synonymous SNV |
ITGA6:NM_000210:exon15:c.C2082T:p.D694D,ITGA6:NM_001079818:exon15:c.C2082T:p.D694D,ITGA6:NM_001316306:exon15:c.C1725T:p.D575D |
RS2293649 |
Waist hip ratio:Gene expression of
ITGA6 in blood:Serum ratio of (gamma-glutamylthreonine*)/(n-Butyl
Oleate):Bipolar disorder |
|
2 |
175213722 |
1 |
CIR1 |
C |
T |
exonic |
nonsynonymous SNV |
CIR1:NM_004882:exon10:c.G856A:p.E286K |
|
2 |
176866967 |
1 |
LNPK |
C |
T |
exonic |
nonsynonymous SNV |
LNPK:NM_001305008:exon1:c.G52A:p.A18T,LNPK:NM_001305010:exon1:c.G52A:p.A18T |
|
2 |
178417142 |
2 |
TTC30B |
C |
T |
exonic |
nonsynonymous SNV |
TTC30B:NM_152517:exon1:c.G350A:p.R117H |
RS11694988 |
Mitral annular calcium |
|
2 |
178417225 |
2 |
TTC30B |
C |
T |
exonic |
synonymous SNV |
TTC30B:NM_152517:exon1:c.G267A:p.L89L |
|
2 |
178481818 |
2 |
TTC30A |
G |
T |
exonic |
synonymous SNV |
TTC30A:NM_152275:exon1:c.C1612A:p.R538R |
RS10497497 |
Major depressive disorder:Lp-PLA2
mass:Serum ratio of (3-phenylpropionate (hydrocinnamate))/(p-cresol
sulfate):Mitral annular calcium |
|
2 |
179406191 |
2 |
TTN |
C |
T |
exonic |
nonsynonymous SNV |
TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H |
RS3731749 |
Arthritis including
non-Rheumatoid:Triglycerides:Triglycerides change with statins:Serum
creatinine:Height |
|
2 |
179413110 |
2 |
TTN |
G |
A |
exonic |
synonymous SNV |
TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A |
RS3731748 |
Triglycerides change with
statins:Body mass index (BMI) |
|
2 |
179702268 |
2 |
CCDC141 |
A |
G |
exonic |
synonymous SNV |
CCDC141:NM_173648:exon23:c.T3678C:p.P1226P |
|
2 |
179839833 |
2 |
CCDC141 |
A |
G |
exonic |
synonymous SNV |
CCDC141:NM_001316745:exon4:c.T477C:p.S159S,CCDC141:NM_173648:exon4:c.T477C:p.S159S |
RS10930846 |
Rheumatoid arthritis:Total hip bone
mineral density (BMD) (postmenopausal females) |
|
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 |
187558960 |
2 |
FAM171B |
G |
A |
exonic |
synonymous SNV |
FAM171B:NM_177454:exon1:c.G60A:p.L20L |
|
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 |
192160875 |
2 |
MYO1B |
C |
T |
exonic |
synonymous SNV |
MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y |
RS4853575 |
Gene expression of MYO1B [probe
212365_at] in lymphoblastoid cell lines:Gene expression of MYO1B [probe
212364_at] in lymphoblastoid cell lines:Cystatin C in serum:Chronic kidney
disease:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:LDL cholesterol:Serum
concentration of glucose:Serum ratio of (phenol
sulfate)/(pyroglutamylglycine):Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels |
|
2 |
192250726 |
2 |
MYO1B |
G |
A |
exonic |
synonymous SNV |
MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E |
RS13018796 |
Infant head circumference |
|
2 |
192279327 |
2 |
MYO1B |
T |
C |
exonic |
synonymous SNV |
MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L |
RS2271767 |
LDL cholesterol:Infant head
circumference |
|
2 |
197004439 |
2 |
STK17B |
A |
G |
exonic |
synonymous SNV |
STK17B:NM_004226:exon7:c.T741C:p.I247I |
RS1054537 |
Gene expression of probe 241860_at
in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Urinary
albumin-to-creatinine ratio:College completion |
|
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 |
201750058 |
1 |
PPIL3 |
T |
C |
exonic |
synonymous SNV |
PPIL3:NM_032472:exon4:c.A111G:p.V37V |
|
2 |
202260049 |
2 |
TRAK2 |
G |
A |
exonic |
synonymous SNV |
TRAK2:NM_015049:exon8:c.C888T:p.H296H |
|
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 |
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 |
209191099 |
2 |
PIKFYVE |
T |
C |
exonic |
synonymous SNV |
PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N |
|
2 |
214142446 |
1 |
LOC100130451 |
G |
A |
exonic |
nonsynonymous SNV |
LOC100130451:NM_001242575:exon3:c.C430T:p.L144F |
|
2 |
214142447 |
1 |
LOC100130451 |
G |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.C429T:p.C143C |
|
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 |
216235089 |
2 |
FN1 |
C |
T |
exonic |
nonsynonymous SNV |
FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I |
|
2 |
216242917 |
2 |
FN1 |
T |
A |
exonic |
synonymous SNV |
FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G |
|
2 |
216249587 |
2 |
FN1 |
C |
T |
exonic |
synonymous SNV |
FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E |
RS13652 |
Hip bone mineral density
(BMD):HOMA-B:Microalbuminuria:Late onset Alzheimer's disease |
|
2 |
216272900 |
2 |
FN1 |
T |
G |
exonic |
nonsynonymous SNV |
FN1:NM_001306129:exon17:c.A2449C:p.T817P,FN1:NM_001306130:exon17:c.A2449C:p.T817P,FN1:NM_001306131:exon17:c.A2449C:p.T817P,FN1:NM_001306132:exon17:c.A2449C:p.T817P,FN1:NM_002026:exon17:c.A2449C:p.T817P,FN1:NM_212474:exon17:c.A2449C:p.T817P,FN1:NM_212476:exon17:c.A2449C:p.T817P,FN1:NM_212478:exon17:c.A2449C:p.T817P,FN1:NM_212482:exon17:c.A2449C:p.T817P |
RS2577301 |
Diastolic blood pressure (DBP) |
|
2 |
216272907 |
2 |
FN1 |
A |
T |
exonic |
synonymous SNV |
FN1:NM_001306129:exon17:c.T2442A:p.P814P,FN1:NM_001306130:exon17:c.T2442A:p.P814P,FN1:NM_001306131:exon17:c.T2442A:p.P814P,FN1:NM_001306132:exon17:c.T2442A:p.P814P,FN1:NM_002026:exon17:c.T2442A:p.P814P,FN1:NM_212474:exon17:c.T2442A:p.P814P,FN1:NM_212476:exon17:c.T2442A:p.P814P,FN1:NM_212478:exon17:c.T2442A:p.P814P,FN1:NM_212482:exon17:c.T2442A:p.P814P |
RS7596677 |
Triglycerides change with
statins:Total cholesterol change with statins:Birth weight |
|
2 |
216300482 |
2 |
FN1 |
T |
A |
exonic |
nonsynonymous SNV |
FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L |
RS1250259 |
Triglycerides change with
statins:LDL cholesterol:Total cholesterol:Waist hip ratio:Nonsyndromic striae
distensae (stretch marks) |
|
2 |
217012901 |
2 |
XRCC5 |
A |
G |
exonic |
synonymous SNV |
XRCC5:NM_021141:exon14:c.A1572G:p.T524T |
RS207906 |
Gene expression of XRCC5 in
blood:Salmonella-induced pyroptosis:Gene expression change of PECR
(ENSG00000115425) in dendritic cells after treatment with Mycobacterium
tuberculosis:Infant head circumference:Gene expression of PECR
(ENSG00000115425) in dendritic cells treated with Mycobacterium
tuberculosis:Maternal transmission distortion |
|
2 |
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 |
219508988 |
2 |
ZNF142 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF142:NM_001105537:exon8:c.A2251G:p.S751G |
RS3770214 |
Gene expression of RQCD1 [probe
213098_at] in lymphoblastoid cell lines:Gene expression of CYP27A1 in blood
cells in Celiac disease:Premature ovarian failure:Fasting insulin:HOMA-B:Gene
expression of SLC11A1 in peripheral blood monocytes:Gene expression of
CYP27A1 in peripheral blood monocytes:Gene expression of STK36 in peripheral
blood monocytes:Triglycerides:Height:Body mass index (BMI):Suicide attempts
in major depressive disorder:Gene expression of CYP27A1 in blood:Gene
expression of ZNF142 in blood:Gene expression of RQCD1 in blood:Gene
expression of TTLL4 in blood:Serum ratio of
(glutamate)/(N2,N2-dimethylguanosine):Gene expression of SLC27A1 (probeID
ILMN_1704985) in whole blood in amyotrophic lateral sclerosis cases and
controls:Primary rhegmatogenous retinal detachment:Amyotrophic lateral
sclerosis (ALS):Amyotrophic lateral sclerosis (ALS):Tetrology of fallot |
|
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 |
220083279 |
2 |
ABCB6 |
C |
T |
exonic |
synonymous SNV |
ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L |
RS1109866 |
HDL cholesterol:Cystatin C in
serum:Years of education:College completion |
|
2 |
220085845 |
2 |
ATG9A |
A |
G |
exonic |
synonymous SNV |
ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T |
RS2276633 |
Triglycerides:HDL
cholesterol:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
2 |
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 |
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 |
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 |
220476443 |
2 |
STK11IP |
C |
T |
exonic |
nonsynonymous SNV |
STK11IP:NM_052902:exon18:c.C2222T:p.S741F |
RS627530 |
Triglycerides |
|
2 |
223436607 |
2 |
FARSB |
C |
T |
exonic |
nonsynonymous SNV |
FARSB:NM_005687:exon17:c.G1753A:p.V585I |
RS7185 |
Irritible bowel
syndrome:Alzheimer's disease:Eur students <30 Digit Symbol:Total
cholesterol:Autism:Asthma:Infant head circumference |
|
2 |
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 |
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 |
233498669 |
2 |
EFHD1 |
G |
T |
exonic |
synonymous SNV |
EFHD1:NM_025202:exon1:c.G255T:p.P85P |
RS2276557 |
Infant head circumference |
|
2 |
233757697 |
2 |
NGEF |
A |
G |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I |
RS895432 |
Total cholesterol change with
statins:Lp-PLA2 activity:Serum ratio of (cysteine-glutathione
disulfide)/(lathosterol):Infant head circumference:Refractive error |
|
2 |
234449316 |
2 |
USP40 |
G |
A |
exonic |
synonymous SNV |
USP40:NM_018218:exon9:c.C1195T:p.L399L |
RS2167884 |
HDL cholesterol:HDL cholesterol |
|
2 |
235950187 |
2 |
SH3BP4 |
T |
C |
exonic |
synonymous SNV |
SH3BP4:NM_014521:exon4:c.T774C:p.D258D |
RS1469375 |
Triglycerides:2 hour
glucose:Ulcerative colitis:Asthma:Serum concentration of inosine:Adiponectin
levels |
|
2 |
235951819 |
2 |
SH3BP4 |
A |
G |
exonic |
synonymous SNV |
SH3BP4:NM_014521:exon4:c.A2406G:p.L802L |
RS3795962 |
2 hour glucose:Adiponectin levels |
|
2 |
238671271 |
1 |
LRRFIP1 |
A |
G |
exonic |
synonymous SNV |
LRRFIP1:NM_001137553:exon8:c.A747G:p.K249K,LRRFIP1:NM_004735:exon10:c.A843G:p.K281K,LRRFIP1:NM_001137552:exon11:c.A915G:p.K305K |
|
2 |
238671355 |
1 |
LRRFIP1 |
C |
T |
exonic |
synonymous SNV |
LRRFIP1:NM_001137553:exon8:c.C831T:p.D277D,LRRFIP1:NM_004735:exon10:c.C927T:p.D309D,LRRFIP1:NM_001137552:exon11:c.C999T:p.D333D |
|
2 |
238671377 |
1 |
LRRFIP1 |
C |
A |
exonic |
nonsynonymous SNV |
LRRFIP1:NM_001137553:exon8:c.C853A:p.P285T,LRRFIP1:NM_004735:exon10:c.C949A:p.P317T,LRRFIP1:NM_001137552:exon11:c.C1021A:p.P341T |
|
2 |
238671886 |
1 |
LRRFIP1 |
C |
T |
exonic |
synonymous SNV |
LRRFIP1:NM_001137553:exon8:c.C1362T:p.D454D,LRRFIP1:NM_004735:exon10:c.C1458T:p.D486D,LRRFIP1:NM_001137552:exon11:c.C1530T:p.D510D |
|
2 |
240961728 |
2 |
NDUFA10 |
T |
C |
exonic |
synonymous SNV |
NDUFA10:NM_001322019:exon2:c.A105G:p.K35K,NDUFA10:NM_001322020:exon2:c.A105G:p.K35K,NDUFA10:NM_004544:exon2:c.A105G:p.K35K |
RS2083411 |
Waist hip ratio:Serum ratio of
(7-methylguanine)/(asparagine):Obesity with early age of onset (age >2) |
|
2 |
242203916 |
2 |
HDLBP |
A |
C |
exonic |
nonsynonymous SNV |
HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A |
|
2 |
242572846 |
2 |
THAP4 |
A |
G |
exonic |
synonymous SNV |
THAP4:NM_015963:exon2:c.T726C:p.S242S |
|
3 |
3170792 |
2 |
TRNT1 |
C |
T |
exonic |
nonsynonymous SNV |
TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L |
RS334773 |
Salmonella-induced pyroptosis |
|
3 |
3189279 |
2 |
TRNT1 |
A |
G |
exonic |
synonymous SNV |
TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A |
RS1705805 |
Gene expression of TRNT1 in YRI
lymphoblastoid cell lines:HOMA-IR:Fasting insulin:HOMA-B:Body mass index
(BMI):Gene expression of CRBN in blood |
|
3 |
3197918 |
2 |
CRBN |
A |
G |
exonic |
synonymous SNV |
CRBN:NM_001173482:exon6:c.T732C:p.Y244Y,CRBN:NM_016302:exon6:c.T735C:p.Y245Y |
RS17027638 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
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 |
9934605 |
2 |
JAGN1 |
T |
C |
exonic |
synonymous SNV |
JAGN1:NM_032492:exon2:c.T96C:p.T32T |
RS279553 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Total cholesterol:Triglycerides change
with statins:Chronic kidney disease:Cystatin C in serum:Gene expression of
IL17RC in peripheral blood monocytes:Gene expression of CRELD1 in peripheral
blood monocytes:Gene expression of PACAP in peripheral blood monocytes:HDL
cholesterol:Height:Gene expression of TTLL3 in blood:Gene expression of
CRELD1///PRRT3 in blood:Serum concentration of threitol:Emergence of suicidal
ideation during treatment with antidepressants:Emergence of suicidal ideation
during treatment with antidepressants
(broad definition - no increase in suicide ideation):Emergence of
suicidal ideation during treatment with antidepressants (narrow definition - emergence from
suicidal ideation absent at baseline):Age at death with kuru
exposure:Transmission distortion |
|
3 |
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 |
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 |
9985656 |
1 |
CRELD1 |
C |
T |
exonic |
synonymous SNV |
CRELD1:NM_001031717:exon11:c.C1119T:p.H373H |
RS3774207 |
HDL cholesterol change with
statins:Methylation levels at chr3:10165289-10165339 [hg18 coord, probe
cg27226214] in Temporal cortex:Methylation levels at chr3:10165289-10165339
[hg18 coord, probe cg27226214] in Caudal pons:Methylation levels at
chr3:10165289-10165339 [hg18 coord, probe cg27226214] in Frontal cortex:Total
cholesterol |
|
3 |
10276163 |
2 |
IRAK2 |
T |
A |
exonic |
nonsynonymous SNV |
IRAK2:NM_001570:exon11:c.T1293A:p.D431E |
RS708035 |
Barnes Akathisia Rating Scale:Gene
expression of GHRL in peripheral blood monocytes:Serum ratio of
(2-hydroxystearate)/(dihomo-linolenate (20:3n3 or n6)) |
|
3 |
10302172 |
2 |
TATDN2 |
G |
A |
exonic |
nonsynonymous SNV |
TATDN2:NM_014760:exon3:c.G766A:p.V256I |
RS394558 |
Spine bone mineral density
(BMD):Gene expression of GHRL in blood:Gene expression of TATDN2 in
blood:Gene expression of VHL in blood:Serum ratio of
(gamma-tocopherol)/(glycerol 2-phosphate):College completion:Primary
rhegmatogenous retinal detachment:Gene expression of GHRLOS2 in normal
prepouch ileum:Gene expression of TATDN2 in normal prepouch ileum |
|
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 |
18427924 |
2 |
SATB1 |
G |
T |
exonic |
synonymous SNV |
SATB1:NM_001322876:exon7:c.C1170A:p.P390P,SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_001322871:exon8:c.C1386A:p.P462P,SATB1:NM_001322873:exon8:c.C1386A:p.P462P,SATB1:NM_001322874:exon8:c.C1386A:p.P462P,SATB1:NM_001322875:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P,SATB1:NM_001322872:exon9:c.C1386A:p.P462P |
|
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 |
27424718 |
2 |
SLC4A7 |
A |
G |
exonic |
synonymous SNV |
SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_001321107:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001321108:exon23:c.T3144C:p.D1048D,SLC4A7:NM_001321103:exon24:c.T3516C:p.D1172D,SLC4A7:NM_001321104:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321105:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321106:exon24:c.T3465C:p.D1155D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D |
RS1472256 |
Triglycerides change with
statins:HDL cholesterol:Triglycerides:Serum ratio of (citrulline)/(n-Butyl
Oleate):Advanced age-related macular degeneration (geographic atrophy) |
|
3 |
31712393 |
2 |
OSBPL10 |
C |
T |
exonic |
synonymous SNV |
OSBPL10:NM_001174060:exon8:c.G1617A:p.P539P,OSBPL10:NM_017784:exon9:c.G1809A:p.P603P |
RS3749405 |
Total cholesterol change with
statins:Height:Years of education:Diabetic retinopathy in Type 2 diabetes
mellitus:Obesity with early age of onset (age >2) |
|
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 |
36897812 |
2 |
TRANK1 |
T |
C |
exonic |
nonsynonymous SNV |
TRANK1:NM_014831:exon12:c.A3269G:p.E1090G,TRANK1:NM_001329998:exon13:c.A3401G:p.E1134G |
|
3 |
38401839 |
2 |
XYLB |
T |
C |
exonic |
synonymous SNV |
XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G |
|
3 |
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 |
44611684 |
1 |
ZKSCAN7 |
G |
A |
exonic |
nonsynonymous SNV |
ZKSCAN7:NM_001288592:exon5:c.G629A:p.G210E,ZKSCAN7:NM_001288590:exon6:c.G1082A:p.G361E,ZKSCAN7:NM_018651:exon6:c.G1082A:p.G361E |
|
3 |
44611913 |
1 |
ZKSCAN7 |
A |
G |
exonic |
synonymous SNV |
ZKSCAN7:NM_001288592:exon5:c.A858G:p.K286K,ZKSCAN7:NM_001288590:exon6:c.A1311G:p.K437K,ZKSCAN7:NM_018651:exon6:c.A1311G:p.K437K |
|
3 |
44612321 |
1 |
ZKSCAN7 |
T |
C |
exonic |
synonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.T1719C:p.H573H,ZKSCAN7:NM_018651:exon6:c.T1719C:p.H573H |
|
3 |
44612825 |
1 |
ZKSCAN7 |
C |
T |
exonic |
synonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.C2223T:p.H741H,ZKSCAN7:NM_018651:exon6:c.C2223T:p.H741H |
|
3 |
44612826 |
1 |
ZKSCAN7 |
A |
G |
exonic |
nonsynonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.A2224G:p.T742A,ZKSCAN7:NM_018651:exon6:c.A2224G:p.T742A |
|
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 |
45052775 |
2 |
EXOSC7 |
G |
C |
exonic |
nonsynonymous SNV |
EXOSC7:NM_015004:exon8:c.G820C:p.V274L |
RS6794 |
Gene expression of KIAA0116 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL
cholesterol:Triglycerides:Handedness in individuals with dyslexia (PegQ
test):Alanine/N,N-dimethylglycine ratio |
|
3 |
45527218 |
2 |
LARS2 |
T |
C |
exonic |
synonymous SNV |
LARS2:NM_015340:exon11:c.T1053C:p.L351L |
RS7610357 |
Triglycerides |
|
3 |
45533224 |
2 |
LARS2 |
G |
A |
exonic |
synonymous SNV |
LARS2:NM_015340:exon13:c.G1455A:p.A485A |
RS2128361 |
Irritible bowel
syndrome:Transmission distortion:Maternal transmission distortion |
|
3 |
45559519 |
2 |
LARS2 |
T |
C |
exonic |
synonymous SNV |
LARS2:NM_015340:exon18:c.T2169C:p.A723A |
RS2170549 |
Adiponectin levels |
|
3 |
45565554 |
2 |
LARS2 |
A |
G |
exonic |
synonymous SNV |
LARS2:NM_015340:exon20:c.A2358G:p.V786V |
|
3 |
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 |
46021218 |
2 |
FYCO1 |
G |
T |
exonic |
synonymous SNV |
FYCO1:NM_024513:exon4:c.C267A:p.R89R |
RS4682801 |
2 hour glucose:Serum ratio of
(1-linoleoylglycerophosphoethanolamine*)/(dodecanedioate) |
|
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 |
47043538 |
2 |
NBEAL2 |
C |
T |
exonic |
synonymous SNV |
NBEAL2:NM_015175:exon31:c.C4911T:p.S1637S |
RS2305634 |
Neuroticism:PC ae C40:3:SM (OH)
C22:1:SM (OH) C22:2:Simpson-Angus Scale:Total cholesterol:Bipolar disorder
and schizophrenia:HDL cholesterol:Triglycerides:Serum ratio of (linoleate
(18:2n6))/(myristate (14:0)):Adiponectin levels |
|
3 |
47045739 |
2 |
NBEAL2 |
C |
G |
exonic |
synonymous SNV |
NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P |
RS1079276 |
Gene expression of KLHL18 [probe
1557165_s_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Adiponectin levels |
|
3 |
47125385 |
2 |
SETD2 |
G |
A |
exonic |
nonsynonymous SNV |
SETD2:NM_001349370:exon11:c.C5753T:p.P1918L,SETD2:NM_014159:exon12:c.C5885T:p.P1962L |
RS4082155 |
Gene expression of KLHL18 [probe
1557165_s_at] in lymphoblastoid cell lines:Simpson-Angus Scale:Total
cholesterol:Adiponectin levels |
|
3 |
47162661 |
2 |
SETD2 |
A |
G |
exonic |
synonymous SNV |
SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N |
RS6767907 |
Gene expression of DHX30 in JPT
lymphoblastoid cell lines:Neuroticism:Total cholesterol:HDL
cholesterol:Alanine/N,N-dimethylglycine ratio:Serum ratio of
(1-methylurate)/(arabinose):Systolic blood pressure (SBP):Bipolar
disorder:Adiponectin levels |
|
3 |
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 |
47452786 |
2 |
PTPN23 |
G |
A |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon19:c.G3120A:p.E1040E,PTPN23:NM_015466:exon20:c.G3498A:p.E1166E |
|
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 |
47459679 |
2 |
SCAP |
C |
T |
exonic |
nonsynonymous SNV |
SCAP:NM_001320044:exon13:c.G1627A:p.V543I,SCAP:NM_012235:exon16:c.G2392A:p.V798I |
|
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 |
47618953 |
2 |
CSPG5 |
C |
A |
exonic |
nonsynonymous SNV |
CSPG5:NM_001206942:exon2:c.G149T:p.G50V,CSPG5:NM_001206943:exon2:c.G563T:p.G188V,CSPG5:NM_001206944:exon2:c.G563T:p.G188V,CSPG5:NM_001206945:exon2:c.G149T:p.G50V,CSPG5:NM_006574:exon2:c.G563T:p.G188V |
RS3732530 |
Premature ovarian failure:Chronic
kidney disease:Height:Body mass index (BMI):Serum ratio of
(3-(4-hydroxyphenyl)lactate)/(cysteine-glutathione disulfide):Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular
degeneration:Hypertension (early onset hypertension):Advanced age-related
macular degeneration (geographic atrophy):Tetrology of fallot:College
completion:Coronary artery disease (CAD) |
|
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 |
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 |
50357869 |
2 |
HYAL2 |
A |
C |
exonic |
nonsynonymous SNV |
HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A |
RS709210 |
HDL cholesterol:HDL cholesterol
change with statins:Gene expression of HYAL3 in Frontal cortex:HDL
cholesterol:Total cholesterol:Gene expression of HYAL3 [transcript NM_003549,
probe A_23_P361405] in liver:Obesity with early age of onset (age >2):Gene
expression of HYAL3 (probeID ILMN_1667432) in cerebellum in Alzheimer's
disease cases and controls:College completion:Gene expression of HYAL3
(probeID ILMN_1667432) in temporal cortex in Alzheimer's disease cases and
controls |
|
3 |
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 |
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 |
53905308 |
2 |
ACTR8 |
T |
C |
exonic |
synonymous SNV |
ACTR8:NM_022899:exon11:c.A1518G:p.G506G |
RS1046677 |
Gene expression of probe 236242_at
in lymphoblastoid cell lines:2 hour glucose:Total cholesterol change with
statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene
expression of ACTR8 in normal prepouch ileum |
|
3 |
53906513 |
2 |
ACTR8 |
G |
A |
exonic |
synonymous SNV |
ACTR8:NM_022899:exon10:c.C1200T:p.I400I |
RS4687757 |
2 hour glucose:Total cholesterol
change with statins:Serum creatinine:Gene expression of IL17RB in
Cerebellum:Gene expression of ACTR8 in normal prepouch ileum |
|
3 |
56597954 |
2 |
CCDC66 |
C |
T |
exonic |
synonymous SNV |
CCDC66:NM_001012506:exon4:c.C243T:p.T81T,CCDC66:NM_001141947:exon4:c.C345T:p.T115T |
RS6769055 |
Irritible bowel syndrome:Rheumatoid
arthritis:Height:Maternal transmission distortion |
|
3 |
56627048 |
2 |
CCDC66 |
A |
G |
exonic |
synonymous SNV |
CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q |
RS1388256 |
Height:Bipolar disorder:Refractive
error |
|
3 |
56627598 |
2 |
CCDC66 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R |
|
3 |
56667682 |
2 |
FAM208A |
G |
C |
exonic |
nonsynonymous SNV |
FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R |
RS9835332 |
HOMA-B:HDL
cholesterol:Triglycerides:Height:Gene expression:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Height:Height:Height:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in
non-Alzheimer's disease samples:Gene expression of C3orf63 (probeID
ILMN_1661409) in cerebellum in Alzheimer's disease cases and
controls:Height:Years of education:College completion |
|
3 |
56703746 |
2 |
FAM208A |
A |
C |
exonic |
synonymous SNV |
FAM208A:NM_001112736:exon5:c.T717G:p.V239V |
|
3 |
56716922 |
2 |
FAM208A |
T |
G |
exonic |
nonsynonymous SNV |
FAM208A:NM_001112736:exon1:c.A113C:p.Q38P |
RS958755 |
Spine bone mineral density
(BMD):Alzheimer's disease:HDL cholesterol:Triglycerides:Height:Gene
expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with
BMP2:Urinary albumin-to-creatinine ratio:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Height:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion:Years of education |
|
3 |
56763316 |
2 |
ARHGEF3 |
G |
A |
exonic |
synonymous SNV |
ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H |
|
3 |
56763328 |
2 |
ARHGEF3 |
T |
C |
exonic |
synonymous SNV |
ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G |
RS1565377 |
Triglycerides:HDL
cholesterol:Height:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):College completion:Years of education |
|
3 |
56771251 |
2 |
ARHGEF3 |
A |
C |
exonic |
nonsynonymous SNV |
ARHGEF3:NM_001128616:exon8:c.T1021G:p.L341V,ARHGEF3:NM_019555:exon8:c.T1003G:p.L335V,ARHGEF3:NM_001289698:exon9:c.T1021G:p.L341V,ARHGEF3:NM_001128615:exon11:c.T1099G:p.L367V |
RS3772219 |
Irritible bowel syndrome:Rheumatoid
arthritis:Longstanding arthritis:Alzheimer's disease:Autism with low IQ:Gene
expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with bmp:Gene
expression of ARHGEF3 in blood:Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(2-stearoylglycerophosphocholine*):Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):College completion |
|
3 |
58081888 |
2 |
FLNB |
T |
C |
exonic |
synonymous SNV |
FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S |
|
3 |
58109162 |
2 |
FLNB |
G |
A |
exonic |
nonsynonymous SNV |
FLNB:NM_001164317:exon21:c.G3469A:p.D1157N,FLNB:NM_001164318:exon21:c.G3469A:p.D1157N,FLNB:NM_001164319:exon21:c.G3469A:p.D1157N,FLNB:NM_001457:exon21:c.G3469A:p.D1157N |
RS1131356 |
Refractive error:Obesity with early
age of onset (age >2) |
|
3 |
58112440 |
2 |
FLNB |
A |
G |
exonic |
synonymous SNV |
FLNB:NM_001164317:exon24:c.A4173G:p.A1391A,FLNB:NM_001164318:exon24:c.A4173G:p.A1391A,FLNB:NM_001164319:exon24:c.A4173G:p.A1391A,FLNB:NM_001457:exon24:c.A4173G:p.A1391A |
RS2362903 |
HDL cholesterol |
|
3 |
58117724 |
2 |
FLNB |
G |
A |
exonic |
synonymous SNV |
FLNB:NM_001164317:exon26:c.G4461A:p.P1487P |
|
3 |
58118555 |
2 |
FLNB |
G |
A |
exonic |
nonsynonymous SNV |
FLNB:NM_001164318:exon26:c.G4411A:p.V1471M,FLNB:NM_001164319:exon26:c.G4411A:p.V1471M,FLNB:NM_001457:exon26:c.G4411A:p.V1471M,FLNB:NM_001164317:exon27:c.G4504A:p.V1502M |
RS12632456 |
Obesity with early age of onset (age
>2):Refractive error |
|
3 |
58154327 |
2 |
FLNB |
C |
T |
exonic |
synonymous SNV |
FLNB:NM_001164319:exon43:c.C7287T:p.S2429S,FLNB:NM_001164318:exon44:c.C7326T:p.S2442S,FLNB:NM_001457:exon44:c.C7359T:p.S2453S,FLNB:NM_001164317:exon45:c.C7452T:p.S2484S |
RS8640 |
Height:Obesity with early age of
onset (age >2) |
|
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 |
64532476 |
2 |
ADAMTS9 |
G |
C |
exonic |
nonsynonymous SNV |
ADAMTS9:NM_001318781:exon31:c.C4938G:p.D1646E,ADAMTS9:NM_182920:exon32:c.C5022G:p.D1674E |
|
3 |
69151152 |
2 |
ARL6IP5 |
C |
A |
exonic |
synonymous SNV |
ARL6IP5:NM_006407:exon2:c.C339A:p.I113I |
|
3 |
75790822 |
2 |
ZNF717 |
A |
G |
exonic |
synonymous SNV |
ZNF717:NM_001128223:exon3:c.T123C:p.D41D,ZNF717:NM_001290208:exon3:c.T123C:p.D41D,ZNF717:NM_001290210:exon3:c.T123C:p.D41D,ZNF717:NM_001324027:exon3:c.T123C:p.D41D,ZNF717:NM_001324028:exon3:c.T102C:p.D34D,ZNF717:NM_001324026:exon4:c.T123C:p.D41D |
|
3 |
87295049 |
2 |
CHMP2B |
T |
C |
exonic |
synonymous SNV |
CHMP2B:NM_001244644:exon2:c.T189C:p.T63T,CHMP2B:NM_014043:exon3:c.T312C:p.T104T |
RS11540913 |
Neuroblastoma (brain cancer):Birth
weight |
|
3 |
88188420 |
2 |
ZNF654 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF654:NM_001350135:exon6:c.G1262A:p.S421N,ZNF654:NM_001350136:exon7:c.G965A:p.S322N,ZNF654:NM_001350137:exon7:c.G779A:p.S260N,ZNF654:NM_001350134:exon8:c.G1601A:p.S534N |
RS9813894 |
Major depressive disorder (narrow
definition) (females):Major depressive disorder (narrow
definition):Triglycerides change with statins:Body mass index (BMI):Obesity
with early age of onset (age >2):College completion |
|
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 |
93593119 |
2 |
PROS1 |
T |
C |
exonic |
synonymous SNV |
PROS1:NM_000313:exon15:c.A2001G:p.P667P,PROS1:NM_001314077:exon16:c.A2097G:p.P699P |
RS6123 |
2 hour glucose:Fasting blood
glucose:Fasting insulin:Body mass index (BMI):Diastolic blood pressure
(DBP):Infant head circumference:Gene expression change of PROS1
(ENSG00000184500) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
3 |
97594261 |
2 |
CRYBG3 |
G |
A |
exonic |
nonsynonymous SNV |
CRYBG3:NM_153605:exon4:c.G4223A:p.G1408E |
RS6782766 |
Birth weight |
|
3 |
97595379 |
2 |
CRYBG3 |
G |
A |
exonic |
nonsynonymous SNV |
CRYBG3:NM_153605:exon4:c.G5341A:p.V1781M |
RS6786354 |
Longstanding arthritis:Differential
exon level expression of MINA [probe 2685785] in brain cortex:Alcohol
dependence:Birth weight |
|
3 |
97660106 |
2 |
CRYBG3 |
A |
C |
exonic |
nonsynonymous SNV |
CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H |
RS4857302 |
Differential exon level expression
of MINA [probe 2685785] in brain cortex:Gene expression of MINA in peripheral
blood monocytes:Serum concentration of
1-eicosatrienoylglycerophosphocholine*:Birth weight |
|
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 |
100174722 |
2 |
LNP1 |
G |
A |
exonic |
synonymous SNV |
LNP1:NM_001085451:exon4:c.G489A:p.E163E |
RS1132022 |
HDL cholesterol change with
statins:Gene expression of NIT2 in peripheral blood monocytes |
|
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 |
105422844 |
2 |
CBLB |
C |
T |
exonic |
synonymous SNV |
CBLB:NM_001321796:exon10:c.G1434A:p.T478T,CBLB:NM_001321799:exon10:c.G1434A:p.T478T,CBLB:NM_001321806:exon10:c.G801A:p.T267T,CBLB:NM_001321811:exon10:c.G801A:p.T267T,CBLB:NM_001321816:exon10:c.G801A:p.T267T,CBLB:NM_001321786:exon11:c.G1665A:p.T555T,CBLB:NM_001321788:exon11:c.G1581A:p.T527T,CBLB:NM_001321789:exon11:c.G1665A:p.T555T,CBLB:NM_001321790:exon11:c.G1647A:p.T549T,CBLB:NM_001321791:exon11:c.G1581A:p.T527T,CBLB:NM_001321793:exon11:c.G1581A:p.T527T,CBLB:NM_001321794:exon11:c.G1581A:p.T527T,CBLB:NM_001321795:exon11:c.G1581A:p.T527T,CBLB:NM_001321797:exon11:c.G1581A:p.T527T,CBLB:NM_001321798:exon11:c.G1581A:p.T527T,CBLB:NM_170662:exon11:c.G1581A:p.T527T,CBLB:NM_001321807:exon12:c.G801A:p.T267T,CBLB:NM_001321808:exon12:c.G801A:p.T267T,CBLB:NM_001321813:exon12:c.G801A:p.T267T,CBLB:NM_001321822:exon12:c.G252A:p.T84T,CBLB:NM_001321820:exon13:c.G393A:p.T131T |
RS2305037 |
Cystatin C in serum:Gene expression
of CBLB (probeID ILMN_1685580) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of CBLB (probeID ILMN_1685580) in
cerebellum in Alzheimer's disease cases and controls |
|
3 |
108403086 |
2 |
DZIP3 |
T |
C |
exonic |
synonymous SNV |
DZIP3:NM_014648:exon27:c.T2907C:p.P969P |
|
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 |
121435621 |
2 |
GOLGB1 |
T |
C |
exonic |
synonymous SNV |
GOLGB1:NM_001256488:exon8:c.A1011G:p.Q337Q,GOLGB1:NM_001256486:exon9:c.A1251G:p.Q417Q,GOLGB1:NM_001256487:exon9:c.A1134G:p.Q378Q,GOLGB1:NM_004487:exon9:c.A1236G:p.Q412Q |
|
3 |
121435624 |
2 |
GOLGB1 |
C |
T |
exonic |
synonymous SNV |
GOLGB1:NM_001256488:exon8:c.G1008A:p.E336E,GOLGB1:NM_001256486:exon9:c.G1248A:p.E416E,GOLGB1:NM_001256487:exon9:c.G1131A:p.E377E,GOLGB1:NM_004487:exon9:c.G1233A:p.E411E |
RS9812411 |
HOMA-B:Total cholesterol change
with statins:LDL cholesterol change with statins:Body mass index (BMI) |
|
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 |
122290579 |
2 |
DTX3L |
C |
T |
exonic |
synonymous SNV |
DTX3L:NM_138287:exon5:c.C2208T:p.A736A |
RS2036342 |
Hemoglobin (Hb):Body mass index
(BMI):Serum ratio of (cysteine-glutathione disulfide)/(serotonin
(5HT)):Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Diabetic
retinopathy in Type 2 diabetes mellitus:Endometriosis |
|
3 |
123303821 |
2 |
HACD2 |
G |
C |
exonic |
synonymous SNV |
HACD2:NM_001329783:exon1:c.C54G:p.G18G,HACD2:NM_198402:exon1:c.C54G:p.G18G |
|
3 |
123357037 |
2 |
MYLK |
A |
G |
exonic |
synonymous SNV |
MYLK:NM_001321309:exon28:c.T4314C:p.N1438N,MYLK:NM_053026:exon28:c.T4635C:p.N1545N,MYLK:NM_053028:exon28:c.T4635C:p.N1545N,MYLK:NM_053025:exon29:c.T4842C:p.N1614N,MYLK:NM_053027:exon29:c.T4842C:p.N1614N |
RS820463 |
Suicide attempts in bipolar
disorder:Suicide attempts in mood disorder patients |
|
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 |
123419288 |
2 |
MYLK |
C |
T |
exonic |
synonymous SNV |
MYLK:NM_001321309:exon17:c.G2499A:p.E833E,MYLK:NM_053026:exon17:c.G2820A:p.E940E,MYLK:NM_053028:exon17:c.G2820A:p.E940E,MYLK:NM_053025:exon18:c.G3027A:p.E1009E,MYLK:NM_053027:exon18:c.G3027A:p.E1009E |
RS12172926 |
Fasting insulin:Urinary
albumin-to-creatinine ratio |
|
3 |
123419573 |
2 |
MYLK |
G |
T |
exonic |
nonsynonymous SNV |
MYLK:NM_001321309:exon17:c.C2214A:p.D738E,MYLK:NM_053026:exon17:c.C2535A:p.D845E,MYLK:NM_053028:exon17:c.C2535A:p.D845E,MYLK:NM_053025:exon18:c.C2742A:p.D914E,MYLK:NM_053027:exon18:c.C2742A:p.D914E |
RS3732487 |
Simpson-Angus Scale:Fasting
insulin:Urinary albumin-to-creatinine ratio |
|
3 |
123419733 |
2 |
MYLK |
A |
G |
exonic |
nonsynonymous SNV |
MYLK:NM_001321309:exon17:c.T2054C:p.L685P,MYLK:NM_053026:exon17:c.T2375C:p.L792P,MYLK:NM_053028:exon17:c.T2375C:p.L792P,MYLK:NM_053025:exon18:c.T2582C:p.L861P,MYLK:NM_053027:exon18:c.T2582C:p.L861P |
RS3732486 |
Fasting insulin:Urinary
albumin-to-creatinine ratio |
|
3 |
123452838 |
2 |
MYLK |
G |
A |
exonic |
synonymous SNV |
MYLK:NM_001321309:exon9:c.C477T:p.T159T,MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T |
RS4678047 |
Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Triglycerides change with statins:Serum ratio of
(alanine)/(proline):Birth weight |
|
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 |
124351316 |
2 |
KALRN |
G |
A |
exonic |
synonymous SNV |
KALRN:NM_001322993:exon2:c.G135A:p.V45V,KALRN:NM_001322994:exon2:c.G135A:p.V45V,KALRN:NM_001322995:exon2:c.G135A:p.V45V,KALRN:NM_001322996:exon2:c.G135A:p.V45V,KALRN:NM_001322997:exon2:c.G135A:p.V45V,KALRN:NM_001322998:exon2:c.G135A:p.V45V,KALRN:NM_001322999:exon2:c.G135A:p.V45V,KALRN:NM_001323000:exon2:c.G135A:p.V45V,KALRN:NM_001323001:exon2:c.G135A:p.V45V,KALRN:NM_007064:exon2:c.G135A:p.V45V,KALRN:NM_001024660:exon35:c.G5226A:p.V1742V,KALRN:NM_001322988:exon35:c.G5226A:p.V1742V |
RS1708303 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:Tardive dyskinesia:Simpson-Angus Scale |
|
3 |
124351424 |
2 |
KALRN |
T |
C |
exonic |
synonymous SNV |
KALRN:NM_001322993:exon2:c.T243C:p.L81L,KALRN:NM_001322994:exon2:c.T243C:p.L81L,KALRN:NM_001322995:exon2:c.T243C:p.L81L,KALRN:NM_001322996:exon2:c.T243C:p.L81L,KALRN:NM_001322997:exon2:c.T243C:p.L81L,KALRN:NM_001322998:exon2:c.T243C:p.L81L,KALRN:NM_001322999:exon2:c.T243C:p.L81L,KALRN:NM_001323000:exon2:c.T243C:p.L81L,KALRN:NM_001323001:exon2:c.T243C:p.L81L,KALRN:NM_007064:exon2:c.T243C:p.L81L,KALRN:NM_001024660:exon35:c.T5334C:p.L1778L,KALRN:NM_001322988:exon35:c.T5334C:p.L1778L |
RS1660038 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:Tardive dyskinesia |
|
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 |
124802881 |
2 |
SLC12A8 |
A |
G |
exonic |
synonymous SNV |
SLC12A8:NM_001195483:exon13:c.T1998C:p.P666P,SLC12A8:NM_024628:exon14:c.T1998C:p.P666P |
|
3 |
124802888 |
2 |
SLC12A8 |
C |
T |
exonic |
nonsynonymous SNV |
SLC12A8:NM_001195483:exon13:c.G1991A:p.R664Q,SLC12A8:NM_024628:exon14:c.G1991A:p.R664Q |
RS2981482 |
Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:Serum ratio of (1-oleoylglycerol
(1-monoolein))/(p-cresol sulfate) |
|
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 |
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 |
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 |
128204951 |
2 |
GATA2 |
C |
T |
exonic |
nonsynonymous SNV |
GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T |
RS2335052 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:HDL cholesterol:Autism with verbal
ability:Height:Eosinophil count:Serum ratio of
(benzoate)/(cysteine-glutathione disulfide):Prostate cancer:Aortic valve
calcium:Tetrology of fallot:Pit-and-fissure surface caries in permanent
dentition |
|
3 |
128614185 |
2 |
ACAD9 |
A |
C |
exonic |
synonymous SNV |
ACAD9:NM_014049:exon4:c.A379C:p.R127R |
RS1680778 |
LDL cholesterol:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
3 |
128627933 |
2 |
ACAD9 |
C |
T |
exonic |
synonymous SNV |
ACAD9:NM_014049:exon14:c.C1476T:p.P492P |
RS876755 |
LDL cholesterol:Lung function,
predicted ratio of forced expiratory volume in 1 second (FEV1) to forced
vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Total
cholesterol:IGP69:Advanced age-related macular degeneration |
|
3 |
128890350 |
2 |
CNBP |
G |
A |
exonic |
synonymous SNV |
CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D |
RS4303883 |
Height |
|
3 |
129281980 |
2 |
PLXND1 |
C |
T |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon26:c.G4625A:p.S1542N |
|
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 |
132218623 |
2 |
DNAJC13 |
G |
T |
exonic |
nonsynonymous SNV |
DNAJC13:NM_015268:exon38:c.G4387T:p.A1463S,DNAJC13:NM_001329126:exon39:c.G4402T:p.A1468S |
RS3762672 |
Differential exon level expression
of DNAJC13 [probe 2642848] in brain cortex:Differential exon level expression
of DNAJC13 [probe 2642848] in peripheral blood mononuclear cells:Serum
creatinine:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Birth weight |
|
3 |
132360883 |
2 |
ACAD11 |
C |
T |
exonic |
nonsynonymous SNV |
ACAD11:NM_032169:exon4:c.G470A:p.R157H |
|
3 |
133475722 |
1 |
TF |
C |
T |
exonic |
synonymous SNV |
TF:NM_001063:exon7:c.C739T:p.L247L |
RS1799852 |
HDL cholesterol:Serum
ferritin:Serum transferrin:Autism:Neuroblastoma (brain
cancer):Carbohydrate-deficient transferrin (percent of total
transferrin):Infant head circumference:Aortic valve calcium |
|
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 |
136574501 |
2 |
SLC35G2 |
A |
G |
exonic |
nonsynonymous SNV |
SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R |
RS1052618 |
Gene expression of probe 228799_at
in lymphoblastoid cell lines:Schizophrenia:HDL cholesterol:Height:Body mass
index (BMI):Gene expression of FNDC6 [probe ILMN_26767] in osteoblasts
treated with BMP2:Resistance to kuru in aged women despite likely exposure:Birth
weight:Hypertension (early onset hypertension) |
|
3 |
138289221 |
2 |
CEP70 |
C |
T |
exonic |
nonsynonymous SNV |
CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N |
RS1673607 |
LDL cholesterol:Differential exon
level expression of CEP70 [probe 2697514] in brain cortex:Differential exon
level expression of CEP70 [probe 2697514] in peripheral blood mononuclear
cells:HOMA-IR:Total cholesterol:LDL cholesterol:Gene expression of FAIM in
CD4+ lymphocytes:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID
ILMN_1723268) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
FAIM (probeID ILMN_1723268) in cerebellum in non-Alzheimer's disease
samples:Birth weight:Gene expression of FAIM (probeID ILMN_1690101) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases:Gene
expression of FAIM (probeID ILMN_1690101) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in
temporal cortex in Alzheimer's disease cases |
|
3 |
142168331 |
2 |
ATR |
C |
T |
exonic |
synonymous SNV |
ATR:NM_001184:exon47:c.G7875A:p.Q2625Q |
|
3 |
148786108 |
2 |
HLTF |
C |
T |
exonic |
synonymous SNV |
HLTF:NM_001318934:exon8:c.G909A:p.T303T,HLTF:NM_001318935:exon8:c.G909A:p.T303T,HLTF:NM_003071:exon8:c.G909A:p.T303T,HLTF:NM_139048:exon8:c.G909A:p.T303T |
RS812249 |
Advanced age-related macular
degeneration:Refractive error:Aortic valve calcium |
|
3 |
148916235 |
2 |
CP |
T |
A |
exonic |
nonsynonymous SNV |
CP:NM_000096:exon9:c.A1632T:p.E544D |
RS701753 |
Serum creatinine |
|
3 |
149678534 |
2 |
RNF13 |
C |
T |
exonic |
synonymous SNV |
RNF13:NM_183381:exon10:c.C789T:p.H263H,RNF13:NM_007282:exon11:c.C789T:p.H263H |
RS6768054 |
Irritible bowel syndrome:Tardive
dyskinesia:Gene expression of COMMD2 in peripheral blood
monocytes:Triglycerides:Stroke (pediatric stroke) |
|
3 |
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 |
155200562 |
2 |
PLCH1 |
C |
T |
exonic |
nonsynonymous SNV |
PLCH1:NM_014996:exon22:c.G3253A:p.D1085N,PLCH1:NM_001130960:exon23:c.G3277A:p.D1093N,PLCH1:NM_001349251:exon23:c.G3250A:p.D1084N |
|
3 |
155241740 |
2 |
PLCH1 |
A |
G |
exonic |
synonymous SNV |
PLCH1:NM_001130960:exon10:c.T1380C:p.S460S,PLCH1:NM_001130961:exon10:c.T1380C:p.S460S,PLCH1:NM_001349250:exon10:c.T1380C:p.S460S,PLCH1:NM_014996:exon10:c.T1416C:p.S472S,PLCH1:NM_001349251:exon11:c.T1416C:p.S472S,PLCH1:NM_001349252:exon11:c.T1416C:p.S472S |
RS9840234 |
HDL cholesterol change with
statins:LDL cholesterol:Total cholesterol:Triglycerides |
|
3 |
158362441 |
2 |
GFM1 |
T |
C |
exonic |
synonymous SNV |
GFM1:NM_001308164:exon1:c.T18C:p.A6A,GFM1:NM_001308166:exon1:c.T18C:p.A6A,GFM1:NM_024996:exon1:c.T18C:p.A6A |
RS1864507 |
Total cholesterol:Gene expression
of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal
cortex in Alzheimer's disease cases and controls:Infant head circumference |
|
3 |
158366900 |
2 |
GFM1 |
G |
A |
exonic |
nonsynonymous SNV |
GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I |
RS2303909 |
Triglycerides:Total
cholesterol:Triglycerides:Gene expression of GFM1 [probe ILMN_9765] in
osteoblasts treated with PGE2:Gene expression of MFSD1 [probe ILMN_29705] in
osteoblasts treated with BMP2:Gene expression of LXN///GFM1 in blood:Gene
expression of GFM1 in blood:Diastolic blood pressure (DBP):Hypertension
(early onset hypertension):Gene expression of RARRES1 (probeID ILMN_1800091)
in cerebellum in Alzheimer's disease cases:Gene expression of RARRES1
(probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in
non-Alzheimer's disease samples:Gene expression of RARRES1 (probeID
ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of RARRES1 (probeID ILMN_1800091) in
temporal cortex in Alzheimer's disease cases:Gene expression of RARRES1
(probeID ILMN_1800091) in temporal cortex in Progressive Supranuclear Palsy
cases |
|
3 |
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 |
170825920 |
2 |
TNIK |
G |
A |
exonic |
synonymous SNV |
TNIK:NM_001161565:exon18:c.C2064T:p.L688L,TNIK:NM_001161566:exon18:c.C2064T:p.L688L,TNIK:NM_001161561:exon19:c.C2229T:p.L743L,TNIK:NM_001161562:exon19:c.C2229T:p.L743L,TNIK:NM_001161563:exon19:c.C2151T:p.L717L,TNIK:NM_001161564:exon19:c.C2151T:p.L717L,TNIK:NM_001161560:exon20:c.C2316T:p.L772L,TNIK:NM_015028:exon20:c.C2316T:p.L772L |
RS2291900 |
Eye color:HDL cholesterol:Variant
Creutzfeldt-Jakob disease:Mitral annular calcium |
|
3 |
170893070 |
2 |
TNIK |
G |
A |
exonic |
synonymous SNV |
TNIK:NM_001161560:exon9:c.C744T:p.N248N,TNIK:NM_001161561:exon9:c.C744T:p.N248N,TNIK:NM_001161562:exon9:c.C744T:p.N248N,TNIK:NM_001161563:exon9:c.C744T:p.N248N,TNIK:NM_001161564:exon9:c.C744T:p.N248N,TNIK:NM_001161565:exon9:c.C744T:p.N248N,TNIK:NM_001161566:exon9:c.C744T:p.N248N,TNIK:NM_015028:exon9:c.C744T:p.N248N |
RS12637875 |
Hip bone mineral density
(BMD):Triglycerides change with statins:HDL cholesterol change with
statins:Serum ratio of (3-methoxytyrosine)/(creatine):Age at death with kuru
exposure |
|
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 |
182790249 |
2 |
MCCC1 |
G |
A |
exonic |
synonymous SNV |
MCCC1:NM_020166:exon5:c.C396T:p.L132L |
RS7622479 |
Fasting insulin:HOMA-IR:Fasting
blood glucose:Triglycerides:College completion |
|
3 |
183476685 |
2 |
YEATS2 |
G |
A |
exonic |
nonsynonymous SNV |
YEATS2:NM_001351369:exon13:c.G1588A:p.V530I,YEATS2:NM_001351370:exon13:c.G1591A:p.V531I,YEATS2:NM_001351371:exon13:c.G1588A:p.V530I,YEATS2:NM_018023:exon13:c.G1588A:p.V530I |
RS262993 |
LDL
cholesterol:Schizophrenia:Differential exon level expression of YEATS2 [probe
2655198] in brain cortex:Serum creatinine:Gene expression of ABCC5 in
blood:Gene expression of MAP6D1 in blood:Epilepsy:Bipolar disorder:Primary
rhegmatogenous retinal detachment:College completion:Parkinson's disease |
|
3 |
183584473 |
1 |
PARL |
A |
G |
exonic |
synonymous SNV |
PARL:NM_001037639:exon3:c.T402C:p.G134G,PARL:NM_001324436:exon3:c.T402C:p.G134G,PARL:NM_001324437:exon3:c.T402C:p.G134G,PARL:NM_001324438:exon3:c.T402C:p.G134G,PARL:NM_018622:exon3:c.T402C:p.G134G |
|
3 |
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 |
185331165 |
2 |
SENP2 |
C |
A |
exonic |
nonsynonymous SNV |
SENP2:NM_021627:exon10:c.C902A:p.T301K |
RS6762208 |
Gene expression of HSS00090370 in
liver:Irritible bowel syndrome:Serum creatinine:Lymphocyte count:College
completion:Gene expression of SENP2 (probeID ILMN_1801121) in breast
tumors:Mitral annular calcium |
|
3 |
186337713 |
2 |
AHSG |
T |
C |
exonic |
nonsynonymous SNV |
AHSG:NM_001622:exon6:c.T743C:p.M248T |
RS4917 |
Spine bone mineral density (BMD):2
hour glucose:Serum ratio of
(1-oleoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Obesity
with early age of onset (age >2):Adiponectin levels:Activated partial
thromboplastin time:P02765 protein abundance levels |
|
3 |
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 |
193334991 |
2 |
OPA1 |
G |
A |
exonic |
nonsynonymous SNV |
OPA1:NM_015560:exon4:c.G473A:p.S158N,OPA1:NM_130834:exon4:c.G473A:p.S158N,OPA1:NM_130836:exon4:c.G473A:p.S158N,OPA1:NM_130837:exon4:c.G473A:p.S158N |
RS7624750 |
Triglycerides:Differential exon
level expression of ATP13A4 [probe 2711251] in peripheral blood mononuclear
cells:Gene expression of ATP13A4 [probe 2711225] in peripheral blood
mononuclear cells:Late onset Alzheimer's disease:Serum ratio of (1-palmitoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Aortic
valve calcium:Adiponectin levels |
|
3 |
193374964 |
2 |
OPA1 |
T |
C |
exonic |
synonymous SNV |
OPA1:NM_130831:exon20:c.T2001C:p.A667A,OPA1:NM_015560:exon21:c.T2109C:p.A703A,OPA1:NM_130832:exon21:c.T2055C:p.A685A,OPA1:NM_130833:exon21:c.T2112C:p.A704A,OPA1:NM_130834:exon22:c.T2163C:p.A721A,OPA1:NM_130835:exon22:c.T2166C:p.A722A,OPA1:NM_130836:exon22:c.T2220C:p.A740A,OPA1:NM_130837:exon23:c.T2274C:p.A758A |
RS9851685 |
Triglycerides:Childhood acute
lymphoblastic leukemia:Aortic valve calcium:Adiponectin levels |
|
3 |
194337901 |
2 |
TMEM44 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM44:NM_001011655:exon6:c.A710G:p.Q237R,TMEM44:NM_001166306:exon6:c.A710G:p.Q237R,TMEM44:NM_138399:exon6:c.A710G:p.Q237R,TMEM44:NM_001166305:exon7:c.A851G:p.Q284R |
RS922282 |
Schizophrenia:Urinary
albumin-to-creatinine ratio:Gene expression of FAM43A in blood:Diabetic
retinopathy in Type 2 diabetes mellitus:College completion |
|
3 |
194338423 |
2 |
TMEM44 |
C |
T |
exonic |
nonsynonymous SNV |
TMEM44:NM_001166305:exon6:c.G695A:p.R232H |
RS12695036 |
Gene expression of LSG1 [probe
221535_at] in lymphoblastoid cell lines |
|
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 |
196674749 |
2 |
PIGZ |
C |
T |
exonic |
nonsynonymous SNV |
PIGZ:NM_025163:exon3:c.G1019A:p.R340Q |
RS4916589 |
Fasting blood glucose:Cystatin C in
serum:Urinary albumin-to-creatinine ratio:Gene expression of C21orf7 in
blood:Serum ratio of (taurochenodeoxycholate)/(taurodeoxycholate) |
|
3 |
196674879 |
2 |
PIGZ |
A |
G |
exonic |
synonymous SNV |
PIGZ:NM_025163:exon3:c.T889C:p.L297L |
RS12636891 |
Gene expression of PIGZ in
peripheral blood monocytes:Triglycerides:Gene expression of PIGZ [transcript
NM_025163, probe A_23_P143935] in liver |
|
3 |
196674916 |
2 |
PIGZ |
A |
C |
exonic |
synonymous SNV |
PIGZ:NM_025163:exon3:c.T852G:p.A284A |
|
3 |
196674972 |
2 |
PIGZ |
C |
T |
exonic |
nonsynonymous SNV |
PIGZ:NM_025163:exon3:c.G796A:p.A266T |
|
3 |
196674973 |
2 |
PIGZ |
T |
C |
exonic |
synonymous SNV |
PIGZ:NM_025163:exon3:c.A795G:p.A265A |
|
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 |
86738 |
2 |
ZNF595 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
4 |
87277 |
2 |
ZNF595 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
4 |
843695 |
2 |
GAK |
A |
G |
exonic |
synonymous SNV |
GAK:NM_001318134:exon24:c.T3582C:p.A1194A,GAK:NM_005255:exon27:c.T3819C:p.A1273A |
|
4 |
858941 |
2 |
GAK |
T |
C |
exonic |
synonymous SNV |
GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A |
|
4 |
1164277 |
2 |
SPON2 |
C |
G |
exonic |
nonsynonymous SNV |
SPON2:NM_012445:exon5:c.G724C:p.V242L,SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L |
RS2279279 |
Gene expression of CRIPAK [probe
241408_at] in lymphoblastoid cell lines:Urinary albumin-to-creatinine ratio |
|
4 |
1165130 |
2 |
SPON2 |
G |
T |
exonic |
nonsynonymous SNV |
SPON2:NM_012445:exon3:c.C365A:p.A122E,SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E |
RS11247975 |
Fasting insulin:Rheumatoid
arthritis:Urinary albumin-to-creatinine ratio:Serum concentration of
decanoylcarnitine:Sporadic Creutzfeldt-Jakob disease:College completion |
|
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 |
1388583 |
2 |
CRIPAK |
A |
G |
exonic |
nonsynonymous SNV |
CRIPAK:NM_175918:exon1:c.A284G:p.H95R |
|
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 |
2306053 |
2 |
ZFYVE28 |
A |
G |
exonic |
nonsynonymous SNV |
ZFYVE28:NM_001172656:exon7:c.T1924C:p.S642P,ZFYVE28:NM_001172659:exon8:c.T1804C:p.S602P,ZFYVE28:NM_020972:exon8:c.T2014C:p.S672P |
RS661301 |
HDL cholesterol |
|
4 |
2826400 |
1 |
SH3BP2 |
T |
C |
exonic |
synonymous SNV |
SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H |
RS3213501 |
HDL
cholesterol:Triglycerides:Advanced age-related macular degeneration:Gene
expression of ADD1 (ENSG00000087274) in dendritic cells:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
4 |
2831383 |
1 |
SH3BP2 |
T |
G |
exonic |
synonymous SNV |
SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A |
RS231399 |
Arthritis including
non-Rheumatoid:HOMA-IR:Fasting insulin:HOMA-B |
|
4 |
3219613 |
2 |
HTT |
A |
C |
exonic |
synonymous SNV |
HTT:NM_002111:exon52:c.A7176C:p.L2392L |
|
4 |
4249909 |
1 |
TMEM128 |
C |
T |
exonic |
synonymous SNV |
TMEM128:NM_001297551:exon1:c.G21A:p.R7R,TMEM128:NM_001297552:exon1:c.G21A:p.R7R |
|
4 |
4276132 |
2 |
LYAR |
T |
C |
exonic |
nonsynonymous SNV |
LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R |
|
4 |
6293696 |
2 |
WFS1 |
C |
G |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R |
|
4 |
6302519 |
2 |
WFS1 |
G |
A |
exonic |
nonsynonymous SNV |
WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I |
RS1801212 |
Type 2 diabetes:Abnormal
Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Gene
expression of ANKRD26 in peripheral blood monocytes:Microalbuminuria:Variant
Creutzfeldt-Jakob disease:Type 2 diabetes, end stage renal disease |
|
4 |
6302707 |
2 |
WFS1 |
C |
T |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V |
RS1801206 |
Fasting blood glucose:Total
cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe
cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood
monocytes:Mitral annular calcium |
|
4 |
6303022 |
2 |
WFS1 |
C |
T |
exonic |
synonymous SNV |
WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N |
RS1801214 |
Fasting blood glucose:Type 2
diabetes:Type 2 diabetes, age of onset:Fasting blood glucose:Type 2 diabetes
without obesity:Microalbuminuria:Type 2 diabetes (males):Type 2
diabetes:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Type 2 diabetes (females):Type 2 diabetes:Type 2 diabetes (males):Type
2 diabetes |
|
4 |
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 |
6619165 |
2 |
MAN2B2 |
A |
G |
exonic |
synonymous SNV |
MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L |
|
4 |
6698667 |
2 |
S100P |
T |
C |
exonic |
synonymous SNV |
S100P:NM_005980:exon2:c.T186C:p.D62D |
|
4 |
6698706 |
2 |
S100P |
A |
C |
exonic |
synonymous SNV |
S100P:NM_005980:exon2:c.A225C:p.I75I |
|
4 |
8228731 |
2 |
SH3TC1 |
T |
C |
exonic |
nonsynonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P |
|
4 |
8228894 |
2 |
SH3TC1 |
T |
C |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D |
|
4 |
8229218 |
2 |
SH3TC1 |
A |
G |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L |
|
4 |
8229326 |
2 |
SH3TC1 |
T |
C |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P |
|
4 |
8242466 |
2 |
SH3TC1 |
A |
G |
exonic |
synonymous SNV |
SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A |
|
4 |
15690233 |
2 |
FAM200B |
C |
A |
exonic |
nonsynonymous SNV |
FAM200B:NM_001145191:exon2:c.C1633A:p.H545N |
RS6449160 |
Serum creatinine |
|
4 |
17503433 |
2 |
QDPR |
C |
T |
exonic |
synonymous SNV |
QDPR:NM_001306140:exon3:c.G252A:p.S84S,QDPR:NM_000320:exon4:c.G345A:p.S115S |
RS3733570 |
LDL cholesterol:Childhood acute
lymphoblastic leukemia:Coronary artery disease (CAD):Salmonella-induced
pyroptosis |
|
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 |
22439914 |
2 |
ADGRA3 |
A |
C |
exonic |
synonymous SNV |
ADGRA3:NM_145290:exon8:c.T1050G:p.P350P |
|
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 |
37903756 |
2 |
TBC1D1 |
T |
C |
exonic |
nonsynonymous SNV |
TBC1D1:NM_001253912:exon2:c.T40C:p.S14P,TBC1D1:NM_015173:exon2:c.T40C:p.S14P |
RS2279027 |
Differential exon level expression
of TBC1D1 [probe 2723770] in peripheral blood mononuclear cells:Differential
exon level expression of TBC1D1 [probe 2723770] in brain cortex:HOMA-B:Total
cholesterol:HDL cholesterol:Lp-PLA2 activity:Tetrology of fallot:Salmonella-induced
pyroptosis |
|
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 |
40121562 |
2 |
N4BP2 |
G |
A |
exonic |
nonsynonymous SNV |
N4BP2:NM_018177:exon9:c.G1831A:p.D611N,N4BP2:NM_001318359:exon10:c.G1591A:p.D531N |
RS794001 |
APOA2 (apolipoprotein
AII):Rheumatoid arthritis:Rheumatoid arthritis:Height:Neuroblastoma (brain
cancer):Gene expression of N4BP2 in blood:Years of education:College
completion:Tetrology of fallot |
|
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 |
47589203 |
2 |
ATP10D |
G |
A |
exonic |
synonymous SNV |
ATP10D:NM_020453:exon22:c.G3921A:p.T1307T |
RS1316874 |
Rheumatoid arthritis |
|
4 |
54011603 |
1 |
SCFD2 |
C |
T |
exonic |
synonymous SNV |
SCFD2:NM_152540:exon5:c.G1458A:p.T486T |
RS17082453 |
Triglycerides |
|
4 |
56262374 |
2 |
TMEM165 |
A |
G |
exonic |
synonymous SNV |
TMEM165:NM_018475:exon1:c.A18G:p.P6P |
|
4 |
56309992 |
2 |
CLOCK |
A |
G |
exonic |
synonymous SNV |
CLOCK:NM_004898:exon20:c.T1764C:p.N588N,CLOCK:NM_001267843:exon21:c.T1764C:p.N588N |
RS3736544 |
Parkinson's disease |
|
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 |
57976234 |
1 |
IGFBP7 |
T |
C |
exonic |
nonsynonymous SNV |
IGFBP7:NM_001253835:exon1:c.A284G:p.K95R,IGFBP7:NM_001553:exon1:c.A284G:p.K95R |
|
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 |
72618323 |
2 |
GC |
G |
T |
exonic |
nonsynonymous SNV |
GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K |
|
4 |
73991006 |
2 |
ANKRD17 |
T |
C |
exonic |
synonymous SNV |
ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A |
|
4 |
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 |
79387464 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon50:c.A7132G:p.K2378E |
RS7684722 |
Tardive dyskinesia |
|
4 |
79455714 |
2 |
FRAS1 |
C |
G |
exonic |
synonymous SNV |
FRAS1:NM_025074:exon71:c.C11037G:p.P3679P |
RS4975070 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Advanced age-related macular degeneration
(geographic atrophy):Obesity with early age of onset (age >2):Years of
education |
|
4 |
79455733 |
2 |
FRAS1 |
C |
T |
exonic |
synonymous SNV |
FRAS1:NM_025074:exon71:c.C11056T:p.L3686L |
RS4975139 |
Spine bone mineral density
(BMD):Fasting blood glucose:LDL cholesterol:Total cholesterol:Sporadic
Creutzfeldt-Jakob disease:Age at death with kuru exposure:Years of
education:Advanced age-related macular degeneration (geographic
atrophy):Obesity with early age of onset (age >2):College completion |
|
4 |
79832509 |
2 |
BMP2K |
A |
C |
exonic |
synonymous SNV |
BMP2K:NM_198892:exon16:c.A2808C:p.P936P |
RS12649750 |
Triglycerides:Comorbid depressive
syndrome and alcohol dependence:College completion:Salmonella-induced
pyroptosis |
|
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 |
84191031 |
2 |
COQ2 |
A |
G |
exonic |
synonymous SNV |
COQ2:NM_015697:exon5:c.T894C:p.D298D |
RS6535454 |
Adiponectin levels:Advanced
age-related macular degeneration (geographic atrophy):Aortic valve calcium |
|
4 |
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 |
88258483 |
2 |
HSD17B11 |
T |
C |
exonic |
nonsynonymous SNV |
HSD17B11:NM_016245:exon7:c.A848G:p.Q283R |
RS9991501 |
Fasting blood glucose:Total
cholesterol:Microalbuminuria |
|
4 |
89397091 |
2 |
HERC5 |
A |
G |
exonic |
nonsynonymous SNV |
HERC5:NM_016323:exon12:c.A1492G:p.M498V |
RS7699006 |
Serum creatinine:Serum ratio of
(linolenate [alpha or gamma; (18:3n3 or 6)])/(oleate (18:1n9)) |
|
4 |
89415396 |
2 |
HERC5 |
T |
C |
exonic |
synonymous SNV |
HERC5:NM_016323:exon18:c.T2358C:p.L786L |
|
4 |
89670155 |
2 |
FAM13A |
C |
T |
exonic |
synonymous SNV |
FAM13A:NM_001265580:exon9:c.G1047A:p.P349P,FAM13A:NM_001265578:exon10:c.G1089A:p.P363P,FAM13A:NM_001015045:exon11:c.G1131A:p.P377P,FAM13A:NM_001265579:exon11:c.G1131A:p.P377P,FAM13A:NM_014883:exon17:c.G2109A:p.P703P |
RS3756050 |
Fasting blood glucose:HDL
cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Salmonella-induced pyroptosis:Lung function, ratio of forced expiratory
volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC) ratio
percent predicted (in nonasthmatic participants) |
|
4 |
95377495 |
1 |
PDLIM5 |
A |
G |
exonic |
nonsynonymous SNV |
PDLIM5:NM_001256429:exon3:c.A197G:p.H66R |
|
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 |
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 |
102564583 |
2 |
|
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 |
106317429 |
2 |
PPA2 |
C |
G |
exonic |
nonsynonymous SNV |
PPA2:NM_176867:exon3:c.G348C:p.K116N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176869:exon9:c.G846C:p.K282N |
RS13787 |
Lp-PLA2
activity:Height:Microalbuminuria:Gene expression of PPA2 (probeID
ILMN_1755041) in cerebellum in Alzheimer's disease cases and controls:College
completion:Proteomic variation in lymphoblastoid cell lines (Protein: PPA2,
Spot: 1685):Years of education:Infant head circumference:Birth weight:Gene
expression of PPA2 (probeID ILMN_1755041) in temporal cortex in Alzheimer's
disease cases and controls |
|
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 |
107249244 |
2 |
AIMP1 |
C |
G |
exonic |
nonsynonymous SNV |
AIMP1:NM_001142415:exon4:c.C235G:p.P79A,AIMP1:NM_001142416:exon4:c.C307G:p.P103A,AIMP1:NM_004757:exon4:c.C235G:p.P79A |
|
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 |
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 |
113539969 |
2 |
ZGRF1 |
T |
C |
exonic |
nonsynonymous SNV |
ZGRF1:NM_001350397:exon6:c.A1229G:p.N410S,ZGRF1:NM_018392:exon6:c.A1229G:p.N410S |
RS7696816 |
Schizophrenia:Serum ratio of
(1-oleoylglycerophosphocholine)/(erythritol):Systolic blood pressure
(SBP):Variant Creutzfeldt-Jakob disease |
|
4 |
119736796 |
2 |
SEC24D |
A |
C |
exonic |
synonymous SNV |
SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P |
RS2389688 |
Gene expression change of SEC24D
(ENSG00000150961) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
4 |
122742217 |
2 |
CCNA2 |
T |
C |
exonic |
nonsynonymous SNV |
CCNA2:NM_001237:exon3:c.A487G:p.I163V |
RS769242 |
Triglycerides |
|
4 |
125591687 |
2 |
ANKRD50 |
A |
G |
exonic |
synonymous SNV |
ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N |
RS3733471 |
Microalbuminuria:Infant head
circumference |
|
4 |
125592065 |
2 |
ANKRD50 |
C |
A |
exonic |
synonymous SNV |
ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A |
RS10018651 |
Gene expression of ANKRD50 in
peripheral blood monocytes:Microalbuminuria:Coronary artery disease
(CAD):Infant head circumference |
|
4 |
128565000 |
2 |
INTU |
A |
G |
exonic |
synonymous SNV |
INTU:NM_015693:exon2:c.A471G:p.R157R |
RS3749507 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy) |
|
4 |
128584661 |
2 |
INTU |
C |
T |
exonic |
synonymous SNV |
INTU:NM_015693:exon4:c.C894T:p.I298I |
|
4 |
128628100 |
2 |
INTU |
A |
C |
exonic |
nonsynonymous SNV |
INTU:NM_015693:exon12:c.A2247C:p.L749F |
|
4 |
128807219 |
2 |
PLK4 |
T |
A |
exonic |
nonsynonymous SNV |
PLK4:NM_001190799:exon4:c.T598A:p.S200T,PLK4:NM_001190801:exon5:c.T571A:p.S191T,PLK4:NM_014264:exon5:c.T694A:p.S232T |
RS3811740 |
2 hour
glucose:Triglycerides:Advanced age-related macular degeneration (geographic
atrophy):Infant head circumference:Advanced age-related macular degeneration |
|
4 |
128814492 |
2 |
PLK4 |
G |
A |
exonic |
synonymous SNV |
PLK4:NM_001190799:exon10:c.G2145A:p.G715G,PLK4:NM_001190801:exon11:c.G2118A:p.G706G,PLK4:NM_014264:exon11:c.G2241A:p.G747G |
|
4 |
128814964 |
2 |
PLK4 |
G |
T |
exonic |
nonsynonymous SNV |
PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D |
RS17012739 |
Barnes Akathisia Rating Scale:2
hour glucose:Triglycerides:Comorbid depressive syndrome and alcohol
dependence:Infant head circumference:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
4 |
128842761 |
2 |
MFSD8 |
G |
A |
exonic |
nonsynonymous SNV |
MFSD8:NM_152778:exon12:c.C1268T:p.A423V |
RS3733319 |
Waist hip ratio:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
4 |
128949799 |
2 |
ABHD18 |
C |
T |
exonic |
nonsynonymous SNV |
ABHD18:NM_001319306:exon10:c.C590T:p.A197V,ABHD18:NM_001319305:exon11:c.C725T:p.A242V,ABHD18:NM_001319307:exon11:c.C464T:p.A155V |
|
4 |
128949850 |
2 |
ABHD18 |
A |
G |
exonic |
nonsynonymous SNV |
ABHD18:NM_001319306:exon10:c.A641G:p.N214S,ABHD18:NM_001319305:exon11:c.A776G:p.N259S,ABHD18:NM_001319307:exon11:c.A515G:p.N172S |
|
4 |
128949929 |
2 |
ABHD18 |
C |
A |
exonic |
nonsynonymous SNV |
ABHD18:NM_001319306:exon10:c.C720A:p.S240R,ABHD18:NM_001319305:exon11:c.C855A:p.S285R,ABHD18:NM_001319307:exon11:c.C594A:p.S198R |
|
4 |
129867280 |
2 |
SCLT1 |
T |
A |
exonic |
nonsynonymous SNV |
SCLT1:NM_144643:exon16:c.A1321T:p.S441C |
RS10028124 |
PROP taste detection threshold |
|
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 |
141543997 |
2 |
TBC1D9 |
G |
A |
exonic |
synonymous SNV |
TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H |
RS1560440 |
Neuroblastoma (brain
cancer):Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension) |
|
4 |
141598126 |
2 |
TBC1D9 |
C |
T |
exonic |
synonymous SNV |
TBC1D9:NM_015130:exon6:c.G981A:p.Q327Q |
|
4 |
141600320 |
2 |
TBC1D9 |
A |
G |
exonic |
synonymous SNV |
TBC1D9:NM_015130:exon5:c.T627C:p.L209L |
RS4956329 |
HDL cholesterol |
|
4 |
144135718 |
2 |
USP38 |
G |
A |
exonic |
synonymous SNV |
USP38:NM_001290325:exon9:c.G2589A:p.R863R,USP38:NM_032557:exon9:c.G2589A:p.R863R,USP38:NM_001290326:exon10:c.G1224A:p.R408R |
RS4285045 |
HDL cholesterol:Serum
creatinine:Cystatin C in serum:Height:Systolic blood pressure
(SBP):Adiponectin levels:Salmonella-induced pyroptosis |
|
4 |
144467104 |
2 |
SMARCA5 |
T |
C |
exonic |
synonymous SNV |
SMARCA5:NM_003601:exon19:c.T2424C:p.N808N |
|
4 |
153633359 |
2 |
|
4 |
153896358 |
2 |
FHDC1 |
C |
T |
exonic |
nonsynonymous SNV |
FHDC1:NM_033393:exon11:c.C1915T:p.R639C |
|
4 |
153897770 |
2 |
FHDC1 |
G |
A |
exonic |
synonymous SNV |
FHDC1:NM_033393:exon11:c.G3327A:p.T1109T |
|
4 |
154387597 |
2 |
TMEM131L |
G |
C |
exonic |
synonymous SNV |
TMEM131L:NM_001131007:exon1:c.G48C:p.A16A,TMEM131L:NM_015196:exon1:c.G48C:p.A16A |
|
4 |
155507590 |
2 |
FGA |
T |
C |
exonic |
nonsynonymous SNV |
FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A |
RS6050 |
Plasma fibrin D-dimer levels:Gamma
fibrinogen levels:Venous thrombosis:Venous thrombosis |
|
4 |
158065038 |
2 |
GLRB |
T |
C |
exonic |
synonymous SNV |
GLRB:NM_000824:exon8:c.T831C:p.T277T,GLRB:NM_001166060:exon8:c.T831C:p.T277T,GLRB:NM_001166061:exon8:c.T831C:p.T277T |
|
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 |
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 |
165890772 |
2 |
TRIM61 |
T |
C |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.A383G:p.H128R |
|
4 |
165890981 |
2 |
TRIM61 |
A |
C |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.T174G:p.F58L |
|
4 |
165891013 |
2 |
TRIM61 |
G |
C |
exonic |
nonsynonymous SNV |
TRIM61:NM_001012414:exon3:c.C142G:p.H48D |
|
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 |
170581570 |
2 |
CLCN3 |
G |
A |
exonic |
nonsynonymous SNV |
CLCN3:NM_001243374:exon1:c.G50A:p.S17N |
|
4 |
174090004 |
2 |
GALNT7 |
G |
A |
exonic |
synonymous SNV |
GALNT7:NM_017423:exon1:c.G18A:p.G6G |
|
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 |
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 |
186111639 |
2 |
CFAP97 |
T |
C |
exonic |
nonsynonymous SNV |
CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A |
RS386518075 |
Years of education:Birth
weight:Breast cancer |
|
4 |
186112111 |
2 |
CFAP97 |
G |
A |
exonic |
synonymous SNV |
CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P |
RS3108237 |
PROP taste detection
threshold:Salmonella-induced pyroptosis |
|
4 |
187519206 |
2 |
FAT1 |
C |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon23:c.G12177C:p.K4059N |
|
4 |
190876204 |
1 |
FRG1 |
G |
A |
exonic |
synonymous SNV |
FRG1:NM_004477:exon5:c.G330A:p.K110K |
|
4 |
190876242 |
1 |
FRG1 |
G |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.G368A:p.G123E |
|
4 |
190883001 |
1 |
FRG1 |
C |
G |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon8:c.C654G:p.D218E |
|
5 |
5447607 |
1 |
ICE1 |
A |
G |
exonic |
synonymous SNV |
ICE1:NM_015325:exon8:c.A492G:p.E164E |
RS4702269 |
Comorbid depressive syndrome and
alcohol dependence |
|
5 |
5462607 |
1 |
ICE1 |
A |
G |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.A3160G:p.T1054A |
RS3806873 |
Comorbid depressive syndrome and
alcohol dependence:Amyotrophic lateral sclerosis (ALS) with >2 C9orf72
hexanucleotide repeats |
|
5 |
5462620 |
1 |
ICE1 |
G |
A |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.G3173A:p.G1058D |
RS3806874 |
Comorbid depressive syndrome and
alcohol dependence:Amyotrophic lateral sclerosis (ALS) with >2 C9orf72
hexanucleotide repeats |
|
5 |
5489383 |
1 |
ICE1 |
G |
A |
exonic |
synonymous SNV |
ICE1:NM_015325:exon19:c.G6741A:p.P2247P |
RS16900247 |
LDL cholesterol:Total cholesterol |
|
5 |
6633042 |
1 |
NSUN2 |
C |
T |
exonic |
synonymous SNV |
NSUN2:NM_001193455:exon1:c.G51A:p.E17E,NSUN2:NM_017755:exon1:c.G51A:p.E17E |
|
5 |
6651970 |
1 |
SRD5A1 |
A |
G |
exonic |
synonymous SNV |
SRD5A1:NM_001047:exon2:c.A309G:p.P103P,SRD5A1:NM_001324323:exon3:c.A90G:p.P30P |
RS3822430 |
Body mass index
(BMI):Salmonella-induced pyroptosis:College completion:Subjective response to
d-amphetamine and the risk for amphetamine addiction:Gene expression of
SRD5A1 in normal prepouch ileum |
|
5 |
6652009 |
1 |
SRD5A1 |
G |
A |
exonic |
synonymous SNV |
SRD5A1:NM_001047:exon2:c.G348A:p.A116A,SRD5A1:NM_001324323:exon3:c.G129A:p.A43A |
RS8192186 |
Subjective response to d-amphetamine
and the risk for amphetamine addiction |
|
5 |
6656210 |
1 |
SRD5A1 |
G |
A |
exonic |
synonymous SNV |
SRD5A1:NM_001324322:exon2:c.G339A:p.T113T,SRD5A1:NM_001047:exon3:c.G480A:p.T160T,SRD5A1:NM_001324323:exon4:c.G261A:p.T87T |
|
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 |
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 |
34811137 |
1 |
RAI14 |
T |
G |
exonic |
synonymous SNV |
RAI14:NM_001145523:exon7:c.T447G:p.L149L,RAI14:NM_001145520:exon8:c.T471G:p.L157L,RAI14:NM_001145522:exon8:c.T471G:p.L157L,RAI14:NM_015577:exon8:c.T471G:p.L157L,RAI14:NM_001145521:exon9:c.T471G:p.L157L,RAI14:NM_001145525:exon10:c.T480G:p.L160L |
|
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 |
37294473 |
1 |
NUP155 |
T |
C |
exonic |
synonymous SNV |
NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L |
RS1045908 |
Triglycerides:Height:Body mass
index (BMI):Bipolar disorder:Gene expression of C5orf42 (ENSG00000197603) in
dendritic cells:Birth weight |
|
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 |
38496637 |
1 |
LIFR |
C |
T |
exonic |
nonsynonymous SNV |
LIFR:NM_001127671:exon13:c.G1732A:p.D578N,LIFR:NM_002310:exon13:c.G1732A:p.D578N |
RS3729740 |
Chemosensitivity to targeted
regimes in metastatic colorectal cancer
(Cetuximab+5-FU/leucovorin+oxaliplatin regime) |
|
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 |
43509348 |
2 |
C5orf34 |
T |
A |
exonic |
nonsynonymous SNV |
C5orf34:NM_198566:exon2:c.A94T:p.T32S |
|
5 |
49103224 |
2 |
|
5 |
52096889 |
2 |
PELO |
C |
A |
exonic |
nonsynonymous SNV |
PELO:NM_015946:exon2:c.C661A:p.L221M |
RS1499280 |
Schizophrenia:Gene expression of
PELO in liver:Mitral annular calcium:Aortic valve calcium |
|
5 |
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 |
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 |
54459961 |
2 |
GPX8 |
A |
G |
exonic |
nonsynonymous SNV |
GPX8:NM_001008397:exon3:c.A545G:p.K182R,GPX8:NM_001306197:exon3:c.A392G:p.K131R,GPX8:NM_001306201:exon3:c.A266G:p.K89R |
RS381852 |
Schizophrenia:Alzheimer's
disease:HOMA-B:Fasting insulin:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Adiponectin levels:Years of education:Diabetic retinopathy in
Type 2 diabetes mellitus:College completion |
|
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 |
56177743 |
2 |
MAP3K1 |
G |
A |
exonic |
nonsynonymous SNV |
MAP3K1:NM_005921:exon14:c.G2716A:p.V906I |
RS832582 |
Gene expression of NP_714917.1 in
blood cells in Celiac disease:Gene expression of MGC33648 [probe ILMN_28708]
in osteoblasts:Gene expression of MAP3K1 [probe ILMN_1757636] in peripheral
leukocytes: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:Methylation levels at chr5:56240632-56240682
[hg18 coord, probe cg20203395] in Cerebellum:Gene expression of C5orf35 in
CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Gene expression of
C5orf35 in blood:Gene expression of C5orf35 [probeset 238465_at] in
sputum:Bipolar disorder:Gene expression of C5ORF35 in liver: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:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in Alzheimer's disease cases:Primary
rhegmatogenous retinal detachment: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 temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in
Alzheimer's disease cases:Type 2 diabetes:Gene expression of C5orf35 in
normal prepouch ileum |
|
5 |
56178217 |
2 |
MAP3K1 |
A |
C |
exonic |
synonymous SNV |
MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R |
RS832583 |
Methylation levels at
chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal
cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe
cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18
coord, probe cg20203395] in Temporal cortex:Methylation levels at
chr5:56240632-56240682 [hg18 coord, probe cg20203395] in
Cerebellum:Height:Bipolar disorder:Gene expression of C5orf35 (probeID
ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C5orf35 in normal prepouch ileum:Gene expression of C5orf35
(probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and
controls |
|
5 |
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 |
60241142 |
2 |
NDUFAF2 |
G |
A |
exonic |
synonymous SNV |
NDUFAF2:NM_174889:exon1:c.G60A:p.K20K |
RS158921 |
Serum creatinine:LDL
cholesterol:Years of education:Parkinson's disease:College completion:Obesity
with early age of onset (age >2) |
|
5 |
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 |
70800538 |
2 |
BDP1 |
G |
A |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon16:c.G2332A:p.V778M |
RS3761967 |
Spine bone mineral density
(BMD):Differential exon level expression of BDP1 [probe 2814601] in brain
cortex:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression
of BDP1 [probeset 224227_s_at] in sputum:Primary rhegmatogenous retinal detachment |
|
5 |
70806457 |
2 |
BDP1 |
G |
A |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon17:c.G3538A:p.G1180S |
RS715748 |
Spine bone mineral density
(BMD):Microalbuminuria:Urinary albumin-to-creatinine ratio:PROP taste
detection threshold:Primary rhegmatogenous retinal detachment |
|
5 |
70806649 |
2 |
BDP1 |
T |
A |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon17:c.T3730A:p.F1244I |
RS1961760 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
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 |
70809169 |
2 |
BDP1 |
A |
G |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon19:c.A4405G:p.K1469E |
RS1698063 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Primary rhegmatogenous retinal detachment |
|
5 |
70837295 |
2 |
BDP1 |
A |
C |
exonic |
nonsynonymous SNV |
BDP1:NM_018429:exon29:c.A6037C:p.I2013L |
|
5 |
70840233 |
2 |
BDP1 |
C |
T |
exonic |
synonymous SNV |
BDP1:NM_018429:exon31:c.C6462T:p.L2154L |
RS182190 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
5 |
70849021 |
2 |
BDP1 |
G |
T |
exonic |
synonymous SNV |
BDP1:NM_018429:exon35:c.G7074T:p.P2358P |
|
5 |
70945075 |
2 |
MCCC2 |
A |
G |
exonic |
synonymous SNV |
MCCC2:NM_022132:exon14:c.A1368G:p.A456A |
|
5 |
72184098 |
2 |
TNPO1 |
C |
T |
exonic |
synonymous SNV |
TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D |
RS17606 |
LDL cholesterol:HOMA-B:HOMA-IR:Total
cholesterol:Height:PROP taste detection threshold |
|
5 |
73981270 |
2 |
HEXB |
T |
C |
exonic |
nonsynonymous SNV |
HEXB:NM_000521:exon1:c.T185C:p.L62S |
|
5 |
74681773 |
2 |
COL4A3BP |
T |
C |
exonic |
synonymous SNV |
COL4A3BP:NM_031361:exon12:c.A1293G:p.E431E,COL4A3BP:NM_005713:exon13:c.A1371G:p.E457E,COL4A3BP:NM_001130105:exon14:c.A1755G:p.E585E |
RS698912 |
LDL cholesterol:Fasting
insulin:HOMA-IR:Fasting blood glucose:LDL cholesterol:Total cholesterol:Total
cholesterol:LDL cholesterol:Body mass index (BMI):Diastolic blood pressure
(DBP):Coronary artery disease (CAD):Advanced age-related macular degeneration
(geographic atrophy) |
|
5 |
77784738 |
2 |
LHFPL2 |
A |
G |
exonic |
synonymous SNV |
LHFPL2:NM_005779:exon5:c.T669C:p.N223N |
RS2241566 |
Fasting
insulin:HOMA-B:HOMA-IR:Triglycerides:HDL cholesterol:Bipolar disorder |
|
5 |
80149981 |
2 |
MSH3 |
A |
G |
exonic |
nonsynonymous SNV |
MSH3:NM_002439:exon21:c.A2846G:p.Q949R |
RS184967 |
Arthritis including
non-Rheumatoid:Schizophrenia:HDL cholesterol:Total cholesterol:Serum
creatinine |
|
5 |
81549216 |
2 |
ATG10 |
C |
T |
exonic |
nonsynonymous SNV |
ATG10:NM_031482:exon7:c.C635T:p.T212M,ATG10:NM_001131028:exon8:c.C635T:p.T212M |
RS1864183 |
Gene expression of LOC92270 [probe
228816_at] in lymphoblastoid cell lines:Gene expression of RPS23 [probe
227722_at] in lymphoblastoid cell lines:Gene expression of RPS23 in
lymphoblastoid cell lines:Gene expression of LOC92270 in lymphoblastoid cell
lines:Gene expression of RPS23 in Frontal cortex:Gene expression of RPS23 in
Caudal pons:Gene expression of RPS23 in Temporal cortex:Gene expression of
RPS23 in peripheral blood monocytes:Triglycerides:Total cholesterol:Gene
expression of RPS23 in CD4+ lymphocytes:Waist hip ratio:Gene expression of
AC010598.6 in blood:PROP taste detection threshold:Gene expression of RPS23
in liver:Gene expression of RPS23 (probeID ILMN_1772459) in temporal cortex
in Alzheimer's disease cases:Gene expression of RPS23 (probeID ILMN_1772459)
in whole blood:Gene expression of RPS23 in normal prepouch ileum:Gene
expression of RPS23 (probeID ILMN_1772459) in cerebellum in non-Alzheimer's
disease samples:Tetrology of fallot:Gene expression of RPS23 (probeID
ILMN_1772459) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RPS23 (probeID ILMN_1772459) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of RPS23 (probeID
ILMN_1772459) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RPS23 (probeID ILMN_1772459) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of RPS23 (probeID ILMN_1772459) in
cerebellum in Alzheimer's disease cases:Gene expression of ATP6AP1L in normal
prepouch ileum |
|
5 |
82648977 |
2 |
XRCC4 |
T |
G |
exonic |
synonymous SNV |
XRCC4:NM_001318012:exon8:c.T927G:p.S309S,XRCC4:NM_003401:exon8:c.T921G:p.S307S,XRCC4:NM_022406:exon8:c.T927G:p.S309S,XRCC4:NM_022550:exon8:c.T921G:p.S307S |
RS1056503 |
HDL cholesterol:Maternal
transmission distortion |
|
5 |
82833145 |
2 |
VCAN |
G |
A |
exonic |
synonymous SNV |
VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q,VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q |
RS2548541 |
Triglycerides:Waist hip ratio |
|
5 |
82833369 |
2 |
VCAN |
A |
G |
exonic |
nonsynonymous SNV |
VCAN:NM_001164097:exon7:c.A1586G:p.K529R,VCAN:NM_004385:exon8:c.A4547G:p.K1516R |
RS309559 |
LDL cholesterol:Abnormal
Involuntary Movement Scale:Simpson-Angus Scale:Triglycerides change with
statins:Waist hip ratio:Gene expression of CSPG2 in blood:Bipolar
disorder:Birth weight:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Hypertension (early onset hypertension) |
|
5 |
89769728 |
2 |
MBLAC2 |
T |
C |
exonic |
nonsynonymous SNV |
MBLAC2:NM_203406:exon1:c.A382G:p.T128A |
|
5 |
95084131 |
2 |
RHOBTB3 |
G |
A |
exonic |
synonymous SNV |
RHOBTB3:NM_014899:exon4:c.G510A:p.A170A |
RS34896 |
Spine bone mineral density
(BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of
RHOBTB3 in blood:Systolic blood pressure (SBP):Age at death with kuru
exposure:College completion:Years of education |
|
5 |
95091194 |
2 |
RHOBTB3 |
C |
T |
exonic |
synonymous SNV |
RHOBTB3:NM_014899:exon6:c.C777T:p.Y259Y |
RS34898 |
Fasting blood
glucose:Triglycerides:Years of education:Acute lung injury following major
trauma |
|
5 |
95091201 |
2 |
RHOBTB3 |
A |
G |
exonic |
nonsynonymous SNV |
RHOBTB3:NM_014899:exon6:c.A784G:p.N262D |
RS34899 |
Spine bone mineral density
(BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of
RHOBTB3 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome
and alcohol dependence:Nausea in response to topiramate treatment in healthy
volunteers:Age at death with kuru exposure:Years of education:College
completion:Acute lung injury following major trauma |
|
5 |
96350710 |
2 |
LNPEP |
G |
A |
exonic |
nonsynonymous SNV |
LNPEP:NM_005575:exon13:c.G2287A:p.A763T,LNPEP:NM_175920:exon13:c.G2245A:p.A749T |
RS2303138 |
Gene expression of ERAP1 [probe
209788_s_at] in lymphoblastoid cell lines:Total cholesterol change with
statins:LDL cholesterol change with statins:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of LRAP in blood:Diastolic blood pressure
(DBP):Comorbid depressive syndrome and alcohol dependence:Infant head
circumference:Tetrology of fallot:Graves' disease |
|
5 |
98109838 |
2 |
RGMB |
A |
C |
exonic |
nonsynonymous SNV |
RGMB:NM_001012761:exon3:c.A187C:p.S63R |
|
5 |
102891695 |
2 |
NUDT12 |
A |
G |
exonic |
synonymous SNV |
NUDT12:NM_001300741:exon4:c.T847C:p.L283L,NUDT12:NM_031438:exon4:c.T901C:p.L301L |
|
5 |
108516459 |
2 |
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 |
109117171 |
2 |
MAN2A1 |
A |
G |
exonic |
synonymous SNV |
MAN2A1:NM_002372:exon9:c.A1449G:p.Q483Q |
RS13189822 |
Childhood acute lymphoblastic
leukemia:Triglycerides change with statins:Gene expression of UPRT in
peripheral blood monocytes:Gene expression of MRRF in peripheral blood
monocytes:Gene expression of UBQLN4 in peripheral blood monocytes:Gene
expression of SPPL2A in peripheral blood monocytes:Gene expression of PJA2 in
normal prepouch ileum |
|
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 |
112162854 |
2 |
APC |
T |
C |
exonic |
synonymous SNV |
APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y |
RS2229992 |
Height:Body mass index (BMI):Infant
head circumference:Colorectal cancer vs adenoma controls (males):Gene
expression of SRP19 (ENSG00000153037) in dendritic cells:Gene expression of
APC (ENSG00000134982) in dendritic cells treated with Mycobacterium tuberculosis:Obesity
with early age of onset (age >2) |
|
5 |
112175770 |
2 |
APC |
G |
A |
exonic |
synonymous SNV |
APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T |
RS41115 |
PROP taste detection threshold:Gene
expression of SRP19 in normal prepouch ileum:Infant head circumference:Gene
expression of REEP5 in normal prepouch ileum |
|
5 |
112176325 |
2 |
APC |
G |
A |
exonic |
synonymous SNV |
APC:NM_001127511:exon14:c.G4980A:p.G1660G,APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G |
RS42427 |
PROP taste detection threshold:Gene
expression of SRP19 in normal prepouch ileum:Infant head circumference:Gene
expression of REEP5 in normal prepouch ileum |
|
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 |
112177171 |
2 |
APC |
G |
A |
exonic |
synonymous SNV |
APC:NM_001127511:exon14:c.G5826A:p.P1942P,APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P |
RS465899 |
PROP taste detection
threshold:Infant head circumference:Gene expression of REEP5 in normal
prepouch ileum:Gene expression of SRP19 in normal prepouch ileum |
|
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 |
112349070 |
2 |
DCP2 |
T |
C |
exonic |
synonymous SNV |
DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A |
RS9326869 |
Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol
dependence:Variant Creutzfeldt-Jakob disease:Birth weight |
|
5 |
112379289 |
2 |
MCC |
G |
A |
exonic |
synonymous SNV |
MCC:NM_002387:exon15:c.C2124T:p.A708A,MCC:NM_001085377:exon17:c.C2694T:p.A898A |
|
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 |
112399791 |
2 |
MCC |
G |
A |
exonic |
synonymous SNV |
MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N |
RS2227947 |
Major depressive disorder:2 hour
glucose:Total cholesterol:Gene expression of DCP2 in peripheral blood
monocytes:Comorbid depressive syndrome and alcohol dependence:Aortic valve
calcium:College completion |
|
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 |
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 |
123983915 |
2 |
ZNF608 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF608:NM_020747:exon4:c.C2162A:p.T721N |
RS6862252 |
LDL
cholesterol:Schizophrenia:Abnormal Involuntary Movement Scale:Partial
epilepsy:Asthma:Hypertension (early onset hypertension):Infant head
circumference |
|
5 |
123984763 |
2 |
ZNF608 |
C |
T |
exonic |
synonymous SNV |
ZNF608:NM_020747:exon4:c.G1314A:p.A438A |
RS7708070 |
Partial epilepsy:Sporadic
Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension (early onset
hypertension):Infant head circumference |
|
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 |
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 |
132099999 |
2 |
8-Sep |
A |
G |
exonic |
synonymous SNV |
SEPT8:NM_001098811:exon3:c.T264C:p.Y88Y,SEPT8:NM_001098812:exon3:c.T264C:p.Y88Y,SEPT8:NM_001098813:exon3:c.T84C:p.Y28Y,SEPT8:NM_001300798:exon3:c.T264C:p.Y88Y,SEPT8:NM_001300799:exon3:c.T264C:p.Y88Y,SEPT8:NM_015146:exon3:c.T264C:p.Y88Y |
RS30507 |
Gene expression of 39692 in
CEU-CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting
insulin |
|
5 |
133956668 |
2 |
SAR1B |
G |
A |
exonic |
synonymous SNV |
SAR1B:NM_016103:exon3:c.C133T:p.L45L,SAR1B:NM_001033503:exon4:c.C133T:p.L45L |
RS11558540 |
Gene expression of PHF15
(ENSG00000043143) in dendritic cells treated with Mycobacterium tuberculosis |
|
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 |
138713959 |
2 |
SLC23A1 |
A |
C |
exonic |
nonsynonymous SNV |
SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A |
|
5 |
140048267 |
2 |
WDR55 |
T |
C |
exonic |
nonsynonymous SNV |
WDR55:NM_017706:exon4:c.T451C:p.C151R |
|
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 |
149008403 |
2 |
ARHGEF37 |
A |
G |
exonic |
synonymous SNV |
ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L |
RS1056993 |
Eye color:2 hour glucose:Chronic
kidney disease:Parkinson's disease:Gene expression of ARHGEF37 in normal
prepouch ileum |
|
5 |
149360877 |
2 |
SLC26A2 |
T |
C |
exonic |
nonsynonymous SNV |
SLC26A2:NM_000112:exon3:c.T1721C:p.I574T |
|
5 |
149919739 |
2 |
NDST1 |
G |
C |
exonic |
synonymous SNV |
NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T |
RS1290147 |
Waist hip ratio:Refractive error |
|
5 |
150639439 |
2 |
GM2A |
A |
G |
exonic |
nonsynonymous SNV |
GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V |
RS153478 |
Gene expression of probe 1559776_at
in lymphoblastoid cell lines:Simpson-Angus Scale:HOMA-IR:Fasting
insulin:Fasting blood glucose:Gene expression of GM2A in peripheral blood
monocytes:Gene expression of NAG18 in peripheral blood
monocytes:Triglycerides:Parkinson's disease |
|
5 |
150647156 |
2 |
GM2A |
T |
C |
exonic |
synonymous SNV |
GM2A:NM_001167607:exon4:c.T516C:p.I172I |
RS9324686 |
Triglycerides:HDL cholesterol |
|
5 |
153413390 |
2 |
FAM114A2 |
C |
T |
exonic |
nonsynonymous SNV |
FAM114A2:NM_001317995:exon3:c.G154A:p.G52S,FAM114A2:NM_001317994:exon4:c.G364A:p.G122S,FAM114A2:NM_018691:exon4:c.G364A:p.G122S,FAM114A2:NM_001317993:exon5:c.G364A:p.G122S |
RS2578377 |
Hip bone mineral density
(BMD):Differential exon level expression of C5orf3 [probe 2882611] in brain
cortex:Differential exon level expression of C5orf3 [probe 2882608] in brain
cortex:Differential exon level expression of C5orf3 [probe 2882608] in peripheral
blood mononuclear cells:Differential exon level expression of C5orf3 [probe
2882607] in brain cortex:Differential exon level expression of C5orf3 [probe
2882611] in peripheral blood mononuclear cells:HDL cholesterol:LDL
cholesterol:Refractive error:Aortic valve calcium:Primary rhegmatogenous
retinal detachment:Gene expression of FAM114A2 in normal prepouch ileum:Birth
weight |
|
5 |
153429459 |
2 |
MFAP3 |
T |
C |
exonic |
synonymous SNV |
MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D |
|
5 |
153432733 |
2 |
MFAP3 |
T |
C |
exonic |
synonymous SNV |
MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A |
|
5 |
153432970 |
2 |
MFAP3 |
C |
T |
exonic |
synonymous SNV |
MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D |
RS2255493 |
HDL cholesterol:LDL
cholesterol:Gene expression of FAM114A2 in normal prepouch ileum:Birth
weight:Aortic valve calcium |
|
5 |
154268902 |
2 |
GEMIN5 |
C |
T |
exonic |
synonymous SNV |
GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A |
RS816739 |
Systolic blood pressure (SBP):Aortic
valve calcium |
|
5 |
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 |
157164962 |
2 |
THG1L |
T |
C |
exonic |
nonsynonymous SNV |
THG1L:NM_001317824:exon5:c.T299C:p.L100P,THG1L:NM_001317825:exon5:c.T320C:p.L107P,THG1L:NM_017872:exon5:c.T695C:p.L232P,THG1L:NM_001317826:exon6:c.T509C:p.L170P |
RS2270812 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Differential exon level expression of
THG1L [probe 2837492] in peripheral blood mononuclear cells:Total cholesterol
change with statins:Triglycerides change with statins:Gene expression of THG1L
in peripheral blood monocytes:Nicotine dependence (smoking):Body mass index
(BMI):Gene expression of ADAM19 in blood:Gene expression of THG1L (probeID
ILMN_2093720) in temporal cortex in Alzheimer's disease cases and
controls:Aortic valve calcium:Gene expression of SOX30 (ENSG00000039600) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
THG1L (probeID ILMN_2093720) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in
Alzheimer's disease cases:Gene expression of THG1L (probeID ILMN_2093720) in
cerebellum in Progressive Supranuclear Palsy cases:Gene expression of THG1L
(probeID ILMN_2093720) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in
non-Alzheimer's disease samples:Gene expression of THG1L (probeID
ILMN_2093720) in temporal cortex in Alzheimer's disease cases |
|
5 |
167645888 |
2 |
TENM2 |
T |
C |
exonic |
synonymous SNV |
TENM2:NM_001080428:exon19:c.T4275C:p.N1425N,TENM2:NM_001122679:exon23:c.T4965C:p.N1655N |
RS1363560 |
HOMA-IR:Rheumatoid arthritis:Height |
|
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 |
167868779 |
2 |
WWC1 |
A |
G |
exonic |
synonymous SNV |
WWC1:NM_001161661:exon16:c.A2373G:p.K791K,WWC1:NM_001161662:exon16:c.A2373G:p.K791K,WWC1:NM_015238:exon16:c.A2373G:p.K791K |
RS3733981 |
Diastolic blood pressure
(DBP):Advanced age-related macular degeneration:Acute lung injury following
major trauma:Advanced age-related macular degeneration (geographic atrophy) |
|
5 |
167868809 |
2 |
WWC1 |
C |
T |
exonic |
synonymous SNV |
WWC1:NM_001161661:exon16:c.C2403T:p.V801V,WWC1:NM_001161662:exon16:c.C2403T:p.V801V,WWC1:NM_015238:exon16:c.C2403T:p.V801V |
RS3733980 |
Gene expression of AC020894.5 in
blood:Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (geographic
atrophy):Advanced age-related macular degeneration:Acute lung injury
following major trauma:Hypertension (early onset hypertension) |
|
5 |
167943827 |
2 |
RARS |
G |
A |
exonic |
synonymous SNV |
RARS:NM_002887:exon13:c.G1497A:p.A499A |
RS653568 |
Triglycerides:Differential exon
level expression of RARS [probe 2839673] in peripheral blood mononuclear
cells:Differential exon level expression of RARS [probe 2839673] in brain
cortex:Triglycerides change with statins:Partial epilepsy:Asthma:Variant Creutzfeldt-Jakob
disease:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis |
|
5 |
171533656 |
2 |
STK10 |
C |
T |
exonic |
synonymous SNV |
STK10:NM_005990:exon6:c.G756A:p.S252S |
|
5 |
171849471 |
2 |
SH3PXD2B |
G |
A |
exonic |
synonymous SNV |
SH3PXD2B:NM_001017995:exon2:c.C105T:p.S35S,SH3PXD2B:NM_001308175:exon2:c.C105T:p.S35S |
RS17074773 |
Fasting insulin:LDL cholesterol
change with statins |
|
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 |
176517797 |
2 |
FGFR4 |
C |
T |
exonic |
nonsynonymous SNV |
FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_001291980:exon4:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L |
RS376618 |
Cystatin C in serum:Height:Body
mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RAB24 in
blood:Gene expression of AC146507.3///MXD3 in blood |
|
5 |
176518784 |
2 |
FGFR4 |
C |
T |
exonic |
synonymous SNV |
FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_001291980:exon6:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R |
|
5 |
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 |
176916516 |
2 |
PDLIM7 |
C |
T |
exonic |
synonymous SNV |
PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P |
RS335462 |
Salmonella-induced pyroptosis:Gene
expression of PDLIM7 (ENSG00000196923) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression change of PDLIM7 (ENSG00000196923)
in dendritic cells after treatment with Mycobacterium tuberculosis |
|
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 |
179260153 |
2 |
SQSTM1 |
C |
T |
exonic |
synonymous SNV |
SQSTM1:NM_003900:exon6:c.C876T:p.D292D,SQSTM1:NM_001142298:exon7:c.C624T:p.D208D,SQSTM1:NM_001142299:exon7:c.C624T:p.D208D |
RS4935 |
Gene expression of SQSTM1 in Caudal
pons:Gene expression of SQSTM1 in Frontal cortex:Gene expression of SQSTM1 in
Temporal cortex:Gene expression of SQSTM1 in Cerebellum:Comorbid depressive
syndrome and alcohol dependence:Years of education:Salmonella-induced
pyroptosis:Refractive error |
|
5 |
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 |
1742794 |
2 |
GMDS |
A |
G |
exonic |
synonymous SNV |
GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D |
|
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 |
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 |
5086070 |
2 |
PPP1R3G |
A |
G |
exonic |
synonymous SNV |
PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A |
|
6 |
5086211 |
2 |
PPP1R3G |
G |
C |
exonic |
synonymous SNV |
PPP1R3G:NM_001145115:exon1:c.G492C:p.L164L |
|
6 |
7230680 |
2 |
RREB1 |
G |
T |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon10:c.G2348T:p.G783V,RREB1:NM_001003699:exon10:c.G2348T:p.G783V,RREB1:NM_001003700:exon10:c.G2348T:p.G783V,RREB1:NM_001168344:exon10:c.G2348T:p.G783V |
|
6 |
7247248 |
2 |
RREB1 |
T |
C |
exonic |
nonsynonymous SNV |
RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P |
RS2256596 |
Childhood acute lymphoblastic
leukemia:LDL cholesterol:Height:Bipolar disorder:Variant Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in
Alzheimer's disease cases and controls |
|
6 |
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 |
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 |
13814340 |
2 |
MCUR1 |
T |
C |
exonic |
nonsynonymous SNV |
MCUR1:NM_001031713:exon1:c.A322G:p.S108G |
|
6 |
16145325 |
2 |
MYLIP |
A |
G |
exonic |
nonsynonymous SNV |
MYLIP:NM_013262:exon6:c.A1025G:p.N342S |
RS9370867 |
LDL cholesterol:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Total cholesterol:HDL
cholesterol:LDL cholesterol:Waist hip ratio:Salmonella-induced pyroptosis |
|
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 |
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 |
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 |
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 |
26056549 |
2 |
HIST1H1C |
A |
G |
exonic |
synonymous SNV |
HIST1H1C:NM_005319:exon1:c.T108C:p.S36S |
RS10425 |
Uric acid:LDL
cholesterol:Triglycerides change with statins:Cystatin C in
serum:Autism:Height:Urinary albumin-to-creatinine ratio:Serum urate:Gene
expression of HIST1H4C (probeID ILMN_2075334) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of HIST1H4C (probeID ILMN_2075334)
in temporal cortex in Alzheimer's disease cases and controls:Coronary artery
disease (CAD):Serum urate:Gene expression of HIST1H2AC (ENSG00000180573) in
dendritic cells:Mean corpuscular hemoglobin concentration (MCHC) |
|
6 |
26056604 |
2 |
HIST1H1C |
G |
A |
exonic |
nonsynonymous SNV |
HIST1H1C:NM_005319:exon1:c.C53T:p.A18V |
RS2230653 |
Cystatin C in serum:Height:Diabetic
retinopathy in Type 2 diabetes mellitus:Infant head circumference |
|
6 |
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 |
28219661 |
2 |
ZKSCAN4 |
G |
A |
exonic |
nonsynonymous SNV |
ZKSCAN4:NM_019110:exon1:c.C98T:p.S33F |
|
6 |
28269663 |
2 |
PGBD1 |
A |
G |
exonic |
nonsynonymous SNV |
PGBD1:NM_001184743:exon7:c.A2032G:p.I678V,PGBD1:NM_032507:exon7:c.A2032G:p.I678V |
RS1997660 |
Spine bone mineral density
(BMD):Schizophrenia:Rheumatoid arthritis:2 hour glucose:Lp-PLA2
activity:Rheumatoid arthritis:Suicide attempts in major depressive
disorder:Suicide attempts in mood disorder patients:Gene expression of ZNF435
in blood:Gene expression of ZNF193 in blood:Gene expression of [probe 2120082
centered at chr6:28245177] in blood:Gene expression of AL022393.1 in
blood:Gene expression of ZNF187 in blood:Gene expression of ZNF323 (probeID
ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of ZNF323 (probeID ILMN_2377991)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of ZSCAN23 in normal prepouch ileum |
|
6 |
28294550 |
2 |
ZSCAN31 |
T |
C |
exonic |
nonsynonymous SNV |
ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R,ZSCAN31:NM_001135215:exon8:c.A614G:p.K205R,ZSCAN31:NM_145909:exon8:c.A614G:p.K205R |
RS853684 |
LDL cholesterol:2 hour
glucose:Lp-PLA2 activity:Rheumatoid arthritis:Methylation levels at
chr6:28429280-28429330 [hg18 coord, probe cg21750589] in Caudal pons:Gene
expression of ZNF323 in Cerebellum:Gene expression of ZNF323 in Temporal
cortex:Gene expression of ZNF323 in Frontal cortex:Gene expression:Gene
expression of ZNF165 [probe ILMN_8007] in untreated osteoblasts:Gene
expression of ZSCAN16 in liver:Gene expression of ZNF187 in blood:Gene
expression of ZNF193 in blood:Gene expression of [probe 2120082 centered at
chr6:28245177] in blood:Gene expression of AL022393.1 in blood:Gene
expression of ZNF323 (probeID ILMN_1655748) in cerebellum in non-Alzheimer's
disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in
cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323
(probeID ILMN_2377991) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases:Gene expression of ZNF323 (probeID ILMN_2377991) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323
(probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases:HIV-1
infection (natural long-term nonprogression):Gene expression of ZNF323
(probeID ILMN_2377991) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ZSCAN23 in normal
prepouch ileum:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID
ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's
disease cases:College completion:Obesity with early age of onset (age
>2):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in
Alzheimer's disease cases |
|
6 |
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 |
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 |
29911086 |
2 |
HLA-A |
T |
C |
exonic |
nonsynonymous SNV |
HLA-A:NM_001242758:exon3:c.T385C:p.S129P,HLA-A:NM_002116:exon3:c.T385C:p.S129P |
|
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 |
29912368 |
1 |
HLA-A |
C |
T |
exonic |
synonymous SNV |
HLA-A:NM_001242758:exon5:c.C987T:p.A329A,HLA-A:NM_002116:exon5:c.C987T:p.A329A |
|
6 |
30080231 |
2 |
TRIM31 |
G |
A |
exonic |
nonsynonymous SNV |
TRIM31:NM_007028:exon2:c.C352T:p.R118C |
RS3734838 |
Rheumatoid arthritis:LDL
cholesterol:Abnormal Involuntary Movement Scale:Total cholesterol:Rheumatoid
arthritis:Height:Gene expression of HLA-A in blood |
|
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 |
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 |
30857072 |
2 |
DDR1 |
G |
C |
exonic |
synonymous SNV |
DDR1:NM_001202521:exon3:c.G282C:p.L94L,DDR1:NM_001202522:exon3:c.G282C:p.L94L,DDR1:NM_013994:exon3:c.G282C:p.L94L,DDR1:NM_001202523:exon4:c.G336C:p.L112L,DDR1:NM_001297652:exon4:c.G282C:p.L94L,DDR1:NM_001297653:exon4:c.G282C:p.L94L,DDR1:NM_001297654:exon4:c.G282C:p.L94L,DDR1:NM_013993:exon5:c.G282C:p.L94L,DDR1:NM_001954:exon6:c.G282C:p.L94L |
RS2229933 |
HIV-1 control (viral load at set
point):Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Advanced
age-related macular degeneration |
|
6 |
30858857 |
2 |
DDR1 |
C |
T |
exonic |
synonymous SNV |
DDR1:NM_001202521:exon4:c.C525T:p.S175S,DDR1:NM_001202522:exon4:c.C525T:p.S175S,DDR1:NM_013994:exon4:c.C525T:p.S175S,DDR1:NM_001202523:exon5:c.C579T:p.S193S,DDR1:NM_001297652:exon5:c.C525T:p.S175S,DDR1:NM_001297653:exon5:c.C525T:p.S175S,DDR1:NM_001297654:exon5:c.C525T:p.S175S,DDR1:NM_013993:exon6:c.C525T:p.S175S,DDR1:NM_001954:exon7:c.C525T:p.S175S |
RS1049622 |
Rheumatoid arthritis:HIV-1
control:Advanced age-related macular degeneration |
|
6 |
30864829 |
2 |
DDR1 |
T |
C |
exonic |
synonymous SNV |
DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_001297652:exon13:c.T1797C:p.V599V,DDR1:NM_001297653:exon13:c.T1797C:p.V599V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001297654:exon14:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V |
RS1049623 |
Psoriasis and/or psoriatic
arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Tardive
dyskinesia:HIV-1 control (viral load at set point):Rheumatoid
arthritis:Idiopathic membranous nephropathy:Gene expression of FLOT1///IER3
in blood:Gene expression of VARSL in blood:Gene expression of AL662797.7 in
blood:Gene expression of FLOT1 in blood:Bipolar disorder:Age at death with
kuru exposure:Advanced age-related macular degeneration:Aortic valve
calcium:Gene expression of VARS2 in normal prepouch ileum:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
6 |
30877760 |
2 |
GTF2H4 |
A |
C |
exonic |
synonymous SNV |
GTF2H4:NM_001517:exon4:c.A294C:p.T98T |
|
6 |
30887972 |
2 |
VARS2 |
C |
T |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon12:c.C852T:p.S284S,VARS2:NM_001167734:exon13:c.C1362T:p.S454S,VARS2:NM_020442:exon13:c.C1272T:p.S424S |
RS2285319 |
Rheumatoid arthritis:HIV-1
control:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
6 |
30888161 |
2 |
VARS2 |
T |
C |
exonic |
nonsynonymous SNV |
VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R |
RS2249464 |
Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:HDL cholesterol:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of VARS2 in normal prepouch ileum:Coronary artery
disease (CAD) |
|
6 |
30889389 |
2 |
VARS2 |
T |
C |
exonic |
synonymous SNV |
VARS2:NM_001167733:exon17:c.T1236C:p.V412V,VARS2:NM_001167734:exon18:c.T1746C:p.V582V,VARS2:NM_020442:exon18:c.T1656C:p.V552V |
RS2074511 |
HIV-1 control (viral load at set
point):Rheumatoid arthritis:HIV-1 control:Gene expression of GTF2H4 in normal
prepouch ileum |
|
6 |
30893127 |
2 |
VARS2 |
G |
A |
exonic |
nonsynonymous SNV |
VARS2:NM_001167733:exon26:c.G2330A:p.R777Q,VARS2:NM_001167734:exon27:c.G2840A:p.R947Q,VARS2:NM_020442:exon27:c.G2750A:p.R917Q |
RS9394021 |
Rheumatoid arthritis:Total
cholesterol:HDL cholesterol:Height:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
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 |
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 |
31118511 |
2 |
CCHCR1 |
T |
G |
exonic |
nonsynonymous SNV |
CCHCR1:NM_001105563:exon6:c.A984C:p.E328D,CCHCR1:NM_001105564:exon6:c.A1092C:p.E364D,CCHCR1:NM_019052:exon6:c.A825C:p.E275D |
RS130067 |
Rheumatoid arthritis:Gene
expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene
expression of CCHCR1 [probe 37424_at] in lymphoblastoid cell lines:Gene
expression of CCHCR1 [probe 37425_g_at] in lymphoblastoid cell lines:Gene
expression of CCHCR1 [probe 42361_g_at] in lymphoblastoid cell lines:Hip bone
mineral density (BMD):Triglycerides:Differential exon level expression of
HLA-C [probe 2948915] in brain cortex:Rheumatoid arthritis:Alzheimer's
disease:Rheumatoid arthritis:Total cholesterol:Triglycerides:Body mass index
(BMI):Prostate cancer:Prostate cancer (age at diagnosis):Prostate cancer
(family history):Gene expression of HCG27 in blood:Gene expression of HLA-B
in blood:Gene expression of [probe 7150630 centered at chr6:31344573] in
blood:PROP taste detection threshold:Resistance to kuru in aged women despite
likely exposure:Parkinson's disease:Gene expression of PSORS1C3 in normal
prepouch ileum |
|
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 |
31122315 |
2 |
CCHCR1 |
G |
C |
exonic |
nonsynonymous SNV |
CCHCR1:NM_001105563:exon4:c.C651G:p.S217R,CCHCR1:NM_001105564:exon4:c.C759G:p.S253R,CCHCR1:NM_019052:exon4:c.C492G:p.S164R |
RS130066 |
Total cholesterol:Serum
creatinine:Chronic kidney disease:PROP taste detection threshold:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
6 |
31124849 |
2 |
CCHCR1 |
C |
T |
exonic |
stopgain |
CCHCR1:NM_001105563:exon2:c.G234A:p.W78X,CCHCR1:NM_001105564:exon2:c.G234A:p.W78X |
RS3130453 |
Gene expression of CCHCR1 [probe
209698_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe
37425_g_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe
37424_at] in lymphoblastoid cell lines:Gene expression of LOC285835 [probe
230937_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe
42361_g_at] in lymphoblastoid cell lines:Gene expression of LOC285835 in
lymphoblastoid cell lines:Gene expression of CCHCR1 in lymphoblastoid cell
lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no
arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Differential
exon level expression of HLA-C [probe 2948893] in brain cortex:Gene
expression of HCG27 [probe 2902207] in peripheral blood mononuclear
cells:HIV-1 control (viral load at set point):Total cholesterol:Serum
creatinine:Chronic kidney disease:Triglycerides:HIV-1 control:Idiopathic
membranous nephropathy:Gene expression of HCG27 in blood:Gene expression of
VARSL in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste
detection threshold:Sporadic Creutzfeldt-Jakob disease:Resistance to kuru in
aged women despite likely exposure:Gene expression of PSORS1C1 in normal
prepouch ileum:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum
in non-Alzheimer's disease samples:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of TCF19 (probeID ILMN_2317618) in
cerebellum in Progressive Supranuclear Palsy cases:Parkinson's disease:Gene
expression of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of TCF19 (probeID ILMN_2317618) in
cerebellum in Alzheimer's disease cases |
|
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 |
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 |
31239430 |
2 |
HLA-C |
C |
T |
exonic |
nonsynonymous SNV |
HLA-C:NM_001243042:exon2:c.G289A:p.A97T,HLA-C:NM_002117:exon2:c.G289A:p.A97T |
RS41543814 |
Sarcoidosis |
|
6 |
31323254 |
1 |
HLA-B |
G |
C |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.C735G:p.G245G |
|
6 |
31323262 |
1 |
HLA-B |
G |
A |
exonic |
nonsynonymous SNV |
HLA-B:NM_005514:exon4:c.C727T:p.R243W |
|
6 |
31382911 |
2 |
MICA |
A |
G |
exonic |
nonsynonymous SNV |
MICA:NM_000247:exon7:c.A1147G:p.T383A |
RS1882 |
Total cholesterol:HDL
cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Height |
|
6 |
31473546 |
2 |
MICB |
A |
G |
exonic |
nonsynonymous SNV |
MICB:NM_001289160:exon2:c.A127G:p.N43D,MICB:NM_001289161:exon2:c.A223G:p.N75D,MICB:NM_005931:exon2:c.A223G:p.N75D |
|
6 |
31477681 |
2 |
MICB |
A |
G |
exonic |
nonsynonymous SNV |
MICB:NM_001289160:exon6:c.A1051G:p.T351A,MICB:NM_001289161:exon6:c.A1018G:p.T340A,MICB:NM_005931:exon6:c.A1147G:p.T383A |
|
6 |
31506624 |
2 |
DDX39B |
T |
C |
exonic |
synonymous SNV |
DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V |
RS1129640 |
Gene expression of CCHCR1 [probe
209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 in
lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index
(BMI):Gene expression of AIF1 (ENSG00000204472) in dendritic cells:Advanced
age-related macular degeneration:Cervical cancer:Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
31525912 |
2 |
NFKBIL1 |
C |
T |
exonic |
nonsynonymous SNV |
NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C |
RS3130062 |
Rheumatoid arthritis:Total
cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Infant
head circumference:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy) |
|
6 |
31594628 |
2 |
PRRC2A |
T |
A |
exonic |
synonymous SNV |
PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G |
RS3130071 |
LDL cholesterol:Total
cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL
cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Advanced
age-related macular degeneration:Gene expression of HLA-DRB5 in normal
prepouch ileum |
|
6 |
31595882 |
2 |
PRRC2A |
C |
A |
exonic |
nonsynonymous SNV |
PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K |
RS1046080 |
Gene expression of HLA-DQA1 [probe
203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B
[probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:Gene expression of HCG27 in peripheral blood
monocytes:Gene expression of MICA in peripheral blood monocytes:Gene
expression of HSPA1L in peripheral blood monocytes:Gene expression of
HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-F in peripheral
blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:LDL
cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis
(ACPA-positive):Systolic blood pressure (SBP):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration (geographic atrophy):Infant head circumference:Lupus
anticoagulant:Advanced age-related macular degeneration |
|
6 |
31597462 |
1 |
PRRC2A |
G |
C |
exonic |
synonymous SNV |
PRRC2A:NM_004638:exon14:c.G2094C:p.P698P,PRRC2A:NM_080686:exon14:c.G2094C:p.P698P |
|
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 |
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 |
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 |
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 |
31785228 |
2 |
HSPA1A |
G |
C |
exonic |
synonymous SNV |
HSPA1A:NM_005345:exon1:c.G1695C:p.A565A |
|
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 |
32122386 |
2 |
PPT2 |
C |
G |
exonic |
nonsynonymous SNV |
PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W |
|
6 |
32151994 |
2 |
AGER |
A |
T |
exonic |
synonymous SNV |
AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A |
RS1800684 |
Gene expression of HLA-DQA1 [probe
213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe
209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe
204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484
[probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of
LOC100133661 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression
of LOC100133811 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of LOC730415 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of RNASE2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of ZNF749 [probe 204670_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB1 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB3 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB4 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of HLA-DRB5 [probe 209312_x_at] in lymphoblastoid cell lines:Gene
expression of LOC100133484 [probe 209312_x_at] in lymphoblastoid cell
lines:Gene expression of LOC100133661 [probe 209312_x_at] in lymphoblastoid
cell lines:Gene expression of LOC100133811 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of LOC730415 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of RNASE2 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of ZNF749 [probe 209312_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211654_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB6 [probe 217362_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 236203_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[213831_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[212999_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209823_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[204670_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[209312_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209480_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[211654_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB6 probe[217362_x_at] in
lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[236203_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[238900_at] in
lymphoblastoid cell lines:Gene expression of HLA-DRB3 probe[238900_at] in lymphoblastoid
cell lines:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total
cholesterol:Triglycerides:Height:Body mass index (BMI):Alzheimer's
disease:Plasma docosapentaenoic acid levels:Coronary artery disease
(CAD):Advanced age-related macular degeneration:Gene expression of HLA-DRB5
in normal prepouch ileum:Gene expression of HLA-DQB1 in normal prepouch
ileum:Parkinson's disease:College completion |
|
6 |
32904981 |
2 |
HLA-DMB |
G |
A |
exonic |
nonsynonymous SNV |
HLA-DMB:NM_002118:exon3:c.C590T:p.T197I |
RS1042337 |
Irritible bowel syndrome:Rheumatoid
arthritis:Rheumatoid arthritis:Gene expression of TAP2 in blood:Gene
expression of HLA-DOA in blood:Gene expression of BRD2 in blood:Gene
expression of HLA-DPB1 in blood:Gene expression of HLA-DMB in blood:Gene
expression of PSMB9 in blood |
|
6 |
32917544 |
2 |
HLA-DMA |
C |
T |
exonic |
nonsynonymous SNV |
HLA-DMA:NM_006120:exon3:c.G496A:p.V166I |
RS1063478 |
Triglycerides:HIV-1 control (viral
load at set point):Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of
HLA-DOB in peripheral blood monocytes:Microalbuminuria |
|
6 |
32948462 |
2 |
BRD2 |
G |
A |
exonic |
synonymous SNV |
BRD2:NM_001199456:exon12:c.G2232A:p.S744S,BRD2:NM_001113182:exon13:c.G2373A:p.S791S,BRD2:NM_001199455:exon13:c.G2478A:p.S826S,BRD2:NM_005104:exon13:c.G2373A:p.S791S,BRD2:NM_001291986:exon14:c.G2013A:p.S671S |
|
6 |
33163451 |
2 |
RXRB |
G |
A |
exonic |
synonymous SNV |
RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F |
RS6531 |
Type 1 diabetes, gender
differentiated:Gene expression of HLA-DPB2 [probe 239975_at] in
lymphoblastoid cell lines:LDL cholesterol:2 hour glucose:LDL cholesterol
change with statins:Total cholesterol change with statins:Rheumatoid
arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene
expression of HSD17B8 in peripheral blood monocytes:Gene expression of
HLA-DPA1 in peripheral blood monocytes:Gene expression of DAXX in blood:Gene
expression of HSD17B8 in blood:Gene expression of HLA-DPB1 in blood:Gene
expression of PHF1///CUTA in blood:Sporadic Creutzfeldt-Jakob disease:Gene
expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in
non-Alzheimer's disease samples:Gene expression of RXRB in normal prepouch
ileum:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of HLA-DPB2 (probeID
ILMN_2205405) in cerebellum in Alzheimer's disease cases:Gene expression of
HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Progressive Supranuclear
Palsy cases |
6 |
33235755 |
2 |
VPS52 |
G |
A |
exonic |
synonymous SNV |
VPS52:NM_001289174:exon8:c.C619T:p.L207L,VPS52:NM_001289175:exon9:c.C445T:p.L149L,VPS52:NM_001289176:exon9:c.C445T:p.L149L,VPS52:NM_022553:exon9:c.C820T:p.L274L |
RS213199 |
Rheumatoid arthritis:Eye
color:Differential splicing of TAPBP [probeset 2950643] in lymphoblastoid
cell lines:Schizophrenia:Rheumatoid arthritis:2 hour glucose:HOMA-B:Fasting
blood glucose:Rheumatoid arthritis:Gene expression of RPS18 in peripheral
blood monocytes:Gene expression of TUT1 in peripheral blood monocytes:Gene
expression of TAPBP in peripheral blood monocytes:Gene expression of HLA-DPB1
in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene expression
of HSD17B8 in blood:Gene expression of B3GALT4///WDR46 in blood:Gene
expression of HLA-DPB1 in blood:Gene expression of TAPBP in blood:Resistance
to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob
disease:Crohn's disease:Coronary artery disease (CAD) |
|
6 |
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 |
33408542 |
2 |
SYNGAP1 |
G |
A |
exonic |
synonymous SNV |
SYNGAP1:NM_001130066:exon11:c.G1713A:p.S571S,SYNGAP1:NM_006772:exon11:c.G1713A:p.S571S |
RS411136 |
Type 1 diabetes, Rheumatoid
arthritis, combined case analysis:Neuroticism:2 hour glucose:HOMA-B:Fasting
blood glucose:Rheumatoid arthritis:Gene expression of HLA-DPB1 in peripheral
blood monocytes:Gene expression of ITPR3 in peripheral blood monocytes |
|
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 |
33659472 |
2 |
ITPR3 |
C |
G |
exonic |
nonsynonymous SNV |
ITPR3:NM_002224:exon53:c.C7306G:p.L2436V |
RS2229642 |
Fasting blood glucose:Rheumatoid
arthritis:Height:Obesity (body mass index (BMI)):Body mass index
(BMI):College completion:Years of education |
|
6 |
34214322 |
2 |
SMIM29 |
C |
G |
exonic |
nonsynonymous SNV |
SMIM29:NM_001287397:exon4:c.G389C:p.G130A,SMIM29:NM_001287398:exon4:c.G389C:p.G130A,SMIM29:NM_001008703:exon5:c.G449C:p.G150A,SMIM29:NM_001008704:exon5:c.G449C:p.G150A,SMIM29:NM_001287396:exon5:c.G449C:p.G150A,SMIM29:NM_178508:exon5:c.G449C:p.G150A |
RS1150781 |
Triglycerides change with
statins:Height:Height (adults):Height (adult females):Height (adult
males):Height:Birth weight |
|
6 |
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 |
37250112 |
2 |
TBC1D22B |
A |
G |
exonic |
synonymous SNV |
TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q |
RS195753 |
2 hour glucose:Total
cholesterol:Rheumatoid arthritis:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
6 |
37252210 |
2 |
TBC1D22B |
C |
T |
exonic |
synonymous SNV |
TBC1D22B:NM_017772:exon6:c.C771T:p.N257N |
RS3818136 |
Total cholesterol:Triglycerides
change with statins:Rheumatoid arthritis:Transmission distortion |
|
6 |
37349033 |
2 |
RNF8 |
G |
A |
exonic |
synonymous SNV |
RNF8:NM_003958:exon7:c.G1344A:p.T448T |
RS2284922 |
Fasting blood glucose:Triglycerides
change with statins:Chronic kidney disease:Serum creatinine:Gene expression
of RNF8 in CD4+ lymphocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin
levels:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Birth weight:Advanced age-related macular degeneration |
|
6 |
39933339 |
2 |
|
6 |
41533579 |
2 |
FOXP4 |
C |
A |
exonic |
synonymous SNV |
FOXP4:NM_001012426:exon2:c.C81A:p.A27A,FOXP4:NM_001012427:exon2:c.C81A:p.A27A,FOXP4:NM_138457:exon2:c.C81A:p.A27A |
RS2104506 |
Cystatin C in serum:Rheumatoid
arthritis:Adiponectin levels:Refractive error |
|
6 |
42044945 |
2 |
TAF8 |
G |
A |
exonic |
synonymous SNV |
TAF8:NM_138572:exon8:c.G888A:p.R296R |
RS3800286 |
Systolic blood pressure (SBP):Gene
expression change of GUCA1A (ENSG00000048545) in dendritic cells after
treatment with Mycobacterium tuberculosis:Transmission distortion |
|
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 |
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 |
43492578 |
2 |
XPO5 |
G |
A |
exonic |
synonymous SNV |
XPO5:NM_020750:exon30:c.C3303T:p.Y1101Y |
RS2257082 |
2 hour glucose:Triglycerides change
with statins:HDL cholesterol:Asthma:Gene expression of MAD2L1BP in blood:Gene
expression of ABCC10 (ENSG00000124574) in dendritic cells:Birth weight:Gene
expression change of ABCC10 (ENSG00000124574) in dendritic cells after
treatment with Mycobacterium tuberculosis |
|
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 |
46623698 |
2 |
SLC25A27 |
T |
C |
exonic |
synonymous SNV |
SLC25A27:NM_001204051:exon2:c.T225C:p.A75A,SLC25A27:NM_001204052:exon2:c.T225C:p.A75A,SLC25A27:NM_004277:exon2:c.T225C:p.A75A |
RS3757241 |
Total cholesterol:HDL
cholesterol:Partial epilepsy:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Lp-PLA2 activity:Bipolar disorder:Gene expression of
CYP39A1 in normal prepouch ileum |
|
6 |
46827073 |
2 |
ADGRF5 |
A |
G |
exonic |
nonsynonymous SNV |
ADGRF5:NM_001098518:exon17:c.T2567C:p.M856T,ADGRF5:NM_015234:exon17:c.T2567C:p.M856T |
|
6 |
47563692 |
2 |
CD2AP |
C |
T |
exonic |
synonymous SNV |
CD2AP:NM_012120:exon12:c.C1204T:p.L402L |
|
6 |
49518914 |
2 |
C6orf141 |
C |
G |
exonic |
nonsynonymous SNV |
C6orf141:NM_001145652:exon1:c.C409G:p.Q137E |
|
6 |
52617731 |
2 |
GSTA2 |
C |
G |
exonic |
nonsynonymous SNV |
GSTA2:NM_000846:exon5:c.G335C:p.S112T |
RS2180314 |
Serum creatinine:Cystatin C in
serum:Rheumatoid arthritis:HDL cholesterol:Triglycerides |
|
6 |
53989526 |
2 |
MLIP |
G |
A |
exonic |
nonsynonymous SNV |
MLIP:NM_001281746:exon3:c.G475A:p.V159I,MLIP:NM_001281747:exon3:c.G508A:p.V170I,MLIP:NM_138569:exon3:c.G475A:p.V159I |
RS4712056 |
HDL cholesterol:Tardive
dyskinesia:HDL cholesterol:Body mass index (BMI):Refractive error:Aortic
valve calcium:Gene expression of MLIP in normal prepouch ileum |
|
6 |
56417282 |
2 |
DST |
C |
T |
exonic |
nonsynonymous SNV |
DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I |
RS4715630 |
Asthma:Waist hip ratio:Mitral
annular calcium:Hypertension (early onset hypertension):Tetrology of fallot |
|
6 |
56417545 |
2 |
DST |
T |
C |
exonic |
nonsynonymous SNV |
DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A |
RS4715631 |
Total cholesterol change with
statins:Asthma:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral
annular calcium |
|
6 |
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 |
71546702 |
2 |
SMAP1 |
C |
T |
exonic |
nonsynonymous SNV |
SMAP1:NM_001281439:exon6:c.C554T:p.A185V,SMAP1:NM_021940:exon6:c.C554T:p.A185V,SMAP1:NM_001044305:exon7:c.C635T:p.A212V,SMAP1:NM_001281440:exon7:c.C605T:p.A202V |
RS2273566 |
LDL cholesterol:Schizophrenia:Late
onset Alzheimer's disease:Gene expression of SMAP1///B3GAT2 in blood:Gene
expression of SMAP1 in blood:Aortic valve calcium |
|
6 |
75797302 |
2 |
COL12A1 |
C |
T |
exonic |
nonsynonymous SNV |
COL12A1:NM_080645:exon50:c.G5680A:p.G1894S,COL12A1:NM_004370:exon65:c.G9172A:p.G3058S |
RS970547 |
Eye color:LDL
cholesterol:Schizophrenia:Comorbid depressive syndrome and alcohol
dependence:Tetrology of fallot:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
6 |
75841722 |
2 |
COL12A1 |
A |
T |
exonic |
synonymous SNV |
COL12A1:NM_080645:exon20:c.T2379A:p.A793A,COL12A1:NM_004370:exon35:c.T5871A:p.A1957A |
RS594012 |
Recurrent early onset major
depressive disorder:Recurrent early onset major depressive disorder
(males):Infant head circumference |
|
6 |
76564953 |
1 |
MYO6 |
A |
G |
exonic |
synonymous SNV |
MYO6:NM_001300899:exon12:c.A1176G:p.T392T,MYO6:NM_004999:exon12:c.A1176G:p.T392T |
|
6 |
79679577 |
1 |
PHIP |
A |
G |
exonic |
synonymous SNV |
PHIP:NM_017934:exon27:c.T3180C:p.D1060D |
|
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 |
80228541 |
2 |
LCA5 |
A |
G |
exonic |
nonsynonymous SNV |
LCA5:NM_001122769:exon2:c.T71C:p.L24S,LCA5:NM_181714:exon3:c.T71C:p.L24S |
RS2655655 |
Eye color:Arthritis including
non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with
statins:Serum creatinine |
|
6 |
83880167 |
1 |
PGM3 |
C |
T |
exonic |
nonsynonymous SNV |
PGM3:NM_001199918:exon11:c.G1153A:p.D385N,PGM3:NM_001199919:exon12:c.G1396A:p.D466N,PGM3:NM_015599:exon12:c.G1396A:p.D466N,PGM3:NM_001199917:exon13:c.G1480A:p.D494N |
RS473267 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Schizophrenia:Premature ovarian
failure:Gene expression of RWDD2A in peripheral blood monocytes:Gene
expression of DOPEY1 in peripheral blood monocytes:Gene expression of RWDD2A
in blood:Gene expression of PGM3///DOPEY1 in blood:Bipolar disorder:Advanced
age-related macular degeneration:Hypertension (early onset
hypertension):Advanced age-related macular degeneration (geographic atrophy) |
|
6 |
83881740 |
1 |
PGM3 |
T |
C |
exonic |
synonymous SNV |
PGM3:NM_001199918:exon10:c.A1038G:p.E346E,PGM3:NM_001199919:exon11:c.A1281G:p.E427E,PGM3:NM_015599:exon11:c.A1281G:p.E427E,PGM3:NM_001199917:exon12:c.A1365G:p.E455E |
RS542948 |
Bipolar disorder:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
6 |
84233831 |
2 |
PRSS35 |
G |
A |
exonic |
nonsynonymous SNV |
PRSS35:NM_153362:exon2:c.G671A:p.R224Q,PRSS35:NM_001170423:exon3:c.G671A:p.R224Q |
RS504593 |
Irritible bowel
syndrome:Schizophrenia:Triglycerides change with statins:Waist hip ratio |
|
6 |
88224164 |
1 |
RARS2 |
T |
C |
exonic |
synonymous SNV |
RARS2:NM_001350509:exon18:c.A1179G:p.K393K,RARS2:NM_001318785:exon19:c.A1179G:p.K393K,RARS2:NM_001350505:exon20:c.A1704G:p.K568K,RARS2:NM_001350506:exon20:c.A1179G:p.K393K,RARS2:NM_001350510:exon20:c.A1179G:p.K393K,RARS2:NM_020320:exon20:c.A1704G:p.K568K,RARS2:NM_001350507:exon21:c.A1179G:p.K393K,RARS2:NM_001350508:exon21:c.A1179G:p.K393K,RARS2:NM_001350511:exon21:c.A1179G:p.K393K |
RS8802 |
HDL cholesterol |
|
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 |
90315789 |
2 |
ANKRD6 |
A |
G |
exonic |
nonsynonymous SNV |
ANKRD6:NM_001242809:exon5:c.A382G:p.I128V,ANKRD6:NM_001242811:exon5:c.A382G:p.I128V,ANKRD6:NM_001242813:exon5:c.A382G:p.I128V,ANKRD6:NM_014942:exon5:c.A382G:p.I128V |
RS3748085 |
Fat mass:Arthritis including
non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:LDL
cholesterol:Lp-PLA2 activity:Height:Waist hip ratio:Gene expression of
RP11-11D8.2 in blood:Hypertension (early onset hypertension) |
|
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 |
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 |
99883704 |
2 |
USP45 |
T |
C |
exonic |
nonsynonymous SNV |
USP45:NM_001346024:exon16:c.A2159G:p.N720S,USP45:NM_001346025:exon16:c.A2156G:p.N719S,USP45:NM_001346028:exon17:c.A1253G:p.N418S,USP45:NM_001080481:exon18:c.A2333G:p.N778S,USP45:NM_001346021:exon18:c.A2333G:p.N778S,USP45:NM_001346022:exon18:c.A2333G:p.N778S,USP45:NM_001346023:exon18:c.A2330G:p.N777S,USP45:NM_001346027:exon18:c.A1253G:p.N418S,USP45:NM_001346029:exon18:c.A1253G:p.N418S |
|
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 |
109764535 |
1 |
SMPD2 |
G |
T |
exonic |
nonsynonymous SNV |
SMPD2:NM_003080:exon9:c.G795T:p.R265S |
RS1476387 |
Height:LDL cholesterol:Gene
expression of SMPD2 [probe 2920906] in peripheral blood mononuclear
cells:Rheumatoid arthritis:Alopecia areata:Total cholesterol:LDL
cholesterol:Triglycerides:Asthma:Height:Body mass index (BMI):Height (adult
females):Height (adult males):Height (adults):Gene expression of C6orf224 in
blood:Gene expression of SMPD2///MICAL1 in blood:Gene expression of SMPD2 in
normal prepouch ileum:Gene expression of PPIL6 (probeID ILMN_1657058) in
cerebellum in Alzheimer's disease cases and controls |
|
6 |
109768295 |
1 |
MICAL1 |
G |
A |
exonic |
synonymous SNV |
MICAL1:NM_001159291:exon16:c.C1950T:p.Y650Y,MICAL1:NM_001286613:exon17:c.C2265T:p.Y755Y,MICAL1:NM_022765:exon17:c.C2208T:p.Y736Y |
RS910730 |
LDL cholesterol:Rheumatoid
arthritis:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Gene
expression of PPIL6 (probeID ILMN_1657058) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of PPIL6 (probeID ILMN_1657058) in
cerebellum in Alzheimer's disease cases |
|
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 |
116575083 |
2 |
TSPYL4 |
C |
A |
exonic |
nonsynonymous SNV |
TSPYL4:NM_021648:exon1:c.G89T:p.R30L |
RS2232470 |
Triglycerides:Lung function, forced
expiratory volume in 1 second (FEV1):Total cholesterol:Serum
creatinine:Lp-PLA2 activity:Triglycerides:Total cholesterol:LDL
cholesterol:Adiponectin levels:Advanced age-related macular degeneration |
|
6 |
119149149 |
2 |
MCM9 |
C |
G |
exonic |
nonsynonymous SNV |
MCM9:NM_017696:exon9:c.G1673C:p.C558S |
|
6 |
121629167 |
2 |
TBC1D32 |
G |
A |
exonic |
synonymous SNV |
TBC1D32:NM_152730:exon5:c.C645T:p.C215C |
RS9398629 |
Rheumatoid arthritis |
|
6 |
126278230 |
2 |
HINT3 |
G |
C |
exonic |
nonsynonymous SNV |
HINT3:NM_138571:exon1:c.G107C:p.G36A |
RS2295005 |
2 hour glucose:Height:Waist hip
ratio |
|
6 |
128388799 |
1 |
PTPRK |
G |
T |
exonic |
synonymous SNV |
PTPRK:NM_001291983:exon11:c.C1635A:p.L545L,PTPRK:NM_001135648:exon12:c.C2022A:p.L674L,PTPRK:NM_001291981:exon12:c.C2022A:p.L674L,PTPRK:NM_001291982:exon12:c.C2022A:p.L674L,PTPRK:NM_001291984:exon12:c.C2022A:p.L674L,PTPRK:NM_002844:exon12:c.C2022A:p.L674L |
|
6 |
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 |
130374102 |
2 |
L3MBTL3 |
C |
A |
exonic |
nonsynonymous SNV |
L3MBTL3:NM_001007102:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346550:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346551:exon6:c.C473A:p.T158N,L3MBTL3:NM_032438:exon7:c.C548A:p.T183N |
RS9388768 |
2 hour glucose:HOMA-B:Serum
creatinine:Lp-PLA2 activity:Autism with low IQ:Autism:Triglycerides:HDL
cholesterol:Height:Waist hip ratio:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Bipolar disorder:Myopia:Height tails (upper and
lower 5th percentiles):Infant head circumference: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 |
135313034 |
2 |
|
6 |
137325847 |
2 |
IL20RA |
C |
T |
exonic |
nonsynonymous SNV |
IL20RA:NM_001278723:exon5:c.G442A:p.V148I,IL20RA:NM_001278724:exon5:c.G376A:p.V126I,IL20RA:NM_001278722:exon6:c.G628A:p.V210I,IL20RA:NM_014432:exon6:c.G775A:p.V259I |
RS1555498 |
HDL cholesterol |
|
6 |
138753337 |
2 |
NHSL1 |
C |
T |
exonic |
synonymous SNV |
NHSL1:NM_020464:exon5:c.G2157A:p.K719K,NHSL1:NM_001144060:exon6:c.G2145A:p.K715K |
RS2039121 |
2 hour glucose |
|
6 |
138754323 |
2 |
NHSL1 |
A |
G |
exonic |
synonymous SNV |
NHSL1:NM_020464:exon5:c.T1171C:p.L391L,NHSL1:NM_001144060:exon6:c.T1159C:p.L387L |
RS2327891 |
Coronary artery disease (CAD),
combined control dataset, gender differentiated:LDL
cholesterol:Schizophrenia:2 hour glucose:Cystatin C in serum:Gene expression
of CTNND1 in peripheral blood monocytes:Gene expression of RP3-422G23.1 in
blood:Birth weight:Tetrology of fallot |
|
6 |
139085450 |
2 |
GVQW2 |
C |
T |
exonic |
synonymous SNV |
GVQW2:NM_001242740:exon2:c.G102A:p.P34P |
|
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 |
143074700 |
2 |
HIVEP2 |
T |
C |
exonic |
synonymous SNV |
HIVEP2:NM_006734:exon10:c.A6885G:p.P2295P |
|
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 |
145051594 |
2 |
UTRN |
G |
A |
exonic |
synonymous SNV |
UTRN:NM_007124:exon53:c.G7911A:p.E2637E |
RS4305737 |
LDL cholesterol:HDL cholesterol |
|
6 |
149953981 |
2 |
KATNA1 |
C |
T |
exonic |
synonymous SNV |
KATNA1:NM_001204076:exon3:c.G234A:p.L78L,KATNA1:NM_007044:exon3:c.G234A:p.L78L |
RS9800580 |
Gene expression of NUP43 [probe
238474_at] in lymphoblastoid cell lines:LDL cholesterol:Serum
creatinine:Breast cancer |
|
6 |
149983216 |
2 |
LATS1 |
G |
A |
exonic |
synonymous SNV |
LATS1:NM_001350392:exon7:c.C2202T:p.D734D,LATS1:NM_004690:exon8:c.C3042T:p.D1014D,LATS1:NM_001350340:exon9:c.C2727T:p.D909D,LATS1:NM_001350339:exon10:c.C2826T:p.D942D |
RS3924871 |
LDL cholesterol:Serum
creatinine:Chronic kidney disease:Breast cancer:Gene expression of LRP11 in
normal prepouch ileum:Gene expression of LATS1 in normal prepouch ileum:Gene
expression of NUP43 in normal prepouch ileum |
|
6 |
150004779 |
2 |
LATS1 |
A |
G |
exonic |
synonymous SNV |
LATS1:NM_001350392:exon3:c.T606C:p.S202S,LATS1:NM_001270519:exon4:c.T1446C:p.S482S,LATS1:NM_004690:exon4:c.T1446C:p.S482S,LATS1:NM_001350339:exon5:c.T1131C:p.S377S,LATS1:NM_001350340:exon5:c.T1131C:p.S377S |
RS3798761 |
Gene expression of NUP43 [probe
238474_at] in lymphoblastoid cell lines:Gene expression of NUP43 [probe
2979056] in peripheral blood mononuclear cells:Gene expression of C6orf72
[probe 2930753] in peripheral blood mononuclear cells:LDL cholesterol:Serum creatinine:Chronic
kidney disease:Asthma:Gene expression of C6orf72 in blood:Gene expression of
PCMT1 in blood:Gene expression of NUP43 in blood:Age at death with kuru
exposure:Gene expression of NUP43 in normal prepouch ileum:Gene expression of
LRP11 in normal prepouch ileum:Gene expression of LATS1 in normal prepouch
ileum:Breast cancer |
|
6 |
150114745 |
2 |
PCMT1 |
G |
A |
exonic |
nonsynonymous SNV |
PCMT1:NM_001252050:exon4:c.G427A:p.V143I,PCMT1:NM_001252051:exon4:c.G427A:p.V143I,PCMT1:NM_001252052:exon4:c.G427A:p.V143I,PCMT1:NM_001252049:exon5:c.G532A:p.V178I,PCMT1:NM_001252053:exon5:c.G532A:p.V178I,PCMT1:NM_005389:exon5:c.G532A:p.V178I |
RS4816 |
Gene expression of NUP43 [probe
2979056] in peripheral blood mononuclear cells:Asthma:Late onset Alzheimer's
disease:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of RAET1E (probeID
ILMN_2164007) in cerebellum in Progressive Supranuclear Palsy cases:Breast
cancer:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in
non-Alzheimer's disease samples:Gene expression of RAET1E (probeID
ILMN_2164007) in cerebellum in Alzheimer's disease cases |
|
6 |
150184882 |
2 |
LRP11 |
G |
C |
exonic |
nonsynonymous SNV |
LRP11:NM_032832:exon1:c.C275G:p.P92R |
|
6 |
151669875 |
2 |
AKAP12 |
A |
G |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E |
RS10872670 |
Irritible bowel syndrome:Multiple
sclerosis severity scale:Triglycerides:Differential exon level expression of
AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in
blood:Birth weight:Infant head circumference |
|
6 |
151670172 |
2 |
AKAP12 |
A |
C |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.A352C:p.K118Q,AKAP12:NM_005100:exon4:c.A646C:p.K216Q |
RS3734799 |
Amyotrophic lateral sclerosis
(ALS):Differential exon level expression of AKAP12 [probe 2931627] in brain
cortex:Triglycerides change with statins:Gene expression of RP11-108N8.2 in
blood:Birth weight:Amyotrophic lateral sclerosis (ALS):Breast cancer:Years of
education |
|
6 |
151670897 |
2 |
AKAP12 |
T |
C |
exonic |
synonymous SNV |
AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A |
RS900654 |
Spine bone mineral density
(BMD):Irritible bowel syndrome:Triglycerides:Differential exon level
expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of
RP11-108N8.2 in blood:Amyotrophic lateral sclerosis (ALS):Birth weight |
|
6 |
151674326 |
2 |
AKAP12 |
A |
C |
exonic |
nonsynonymous SNV |
AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D |
RS3823310 |
Rheumatoid
arthritis:Schizophrenia:Differential exon level expression of AKAP12 [probe
2931627] in brain cortex:Breast cancer:Endometriosis |
|
6 |
151686905 |
2 |
ZBTB2 |
C |
T |
exonic |
synonymous SNV |
ZBTB2:NM_020861:exon3:c.G1296A:p.E432E |
|
6 |
153296541 |
1 |
FBXO5 |
G |
C |
exonic |
nonsynonymous SNV |
FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E |
RS2073260 |
Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition):Major
depressive disorder:2 hour glucose:Lp-PLA2 activity:LDL cholesterol:Total
cholesterol:Waist hip ratio:Adiponectin levels:Aortic valve calcium |
|
6 |
153323594 |
1 |
MTRF1L |
C |
T |
exonic |
nonsynonymous SNV |
MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301047:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301870:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301872:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q |
|
6 |
153323709 |
1 |
MTRF1L |
T |
C |
exonic |
nonsynonymous SNV |
MTRF1L:NM_001114184:exon1:c.A112G:p.T38A,MTRF1L:NM_001301047:exon1:c.A112G:p.T38A,MTRF1L:NM_001301870:exon1:c.A112G:p.T38A,MTRF1L:NM_001301872:exon1:c.A112G:p.T38A,MTRF1L:NM_019041:exon1:c.A112G:p.T38A |
|
6 |
154771277 |
2 |
CNKSR3 |
A |
G |
exonic |
synonymous SNV |
CNKSR3:NM_173515:exon2:c.T168C:p.I56I |
RS9322467 |
2 hour glucose:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular degeneration
(geographic atrophy) |
|
6 |
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 |
155577823 |
2 |
TIAM2 |
C |
T |
exonic |
synonymous SNV |
TIAM2:NM_001010927:exon13:c.C1449T:p.A483A,TIAM2:NM_012454:exon26:c.C4674T:p.A1558A |
RS1571766 |
Gene expression of TFB1M [probe
219169_s_at] in lymphoblastoid cell lines:Gene expression of TFB1M [probe
228075_x_at] in lymphoblastoid cell lines:Gene expression of probe 240263_at
in lymphoblastoid cell lines:Differential exon level expression of TIAM2
[probe 2932564] in brain cortex:Premature ovarian failure:Height:Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of TFB1M in normal
prepouch ileum:College completion:Primary rhegmatogenous retinal
detachment:Infant head circumference |
|
6 |
155606325 |
1 |
TFB1M |
C |
T |
exonic |
synonymous SNV |
TFB1M:NM_001350501:exon5:c.G633A:p.T211T,TFB1M:NM_001350502:exon5:c.G348A:p.T116T,TFB1M:NM_016020:exon5:c.G633A:p.T211T |
RS324356 |
Schizophrenia:Waist hip
ratio:Sporadic Creutzfeldt-Jakob disease:Infant head circumference:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Gene expression of CLDN20
(ENSG00000171217) in dendritic cells treated with Mycobacterium
tuberculosis:Salmonella-induced pyroptosis:Gene expression of TFB1M in normal
prepouch ileum |
|
6 |
158735087 |
2 |
TULP4 |
C |
T |
exonic |
synonymous SNV |
TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S |
RS9364951 |
HDL cholesterol change with
statins:Height |
|
6 |
158735090 |
2 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D |
RS7756620 |
HOMA-IR:Fasting insulin:HDL
cholesterol change with statins:Height |
|
6 |
158923434 |
2 |
TULP4 |
G |
C |
exonic |
synonymous SNV |
TULP4:NM_020245:exon13:c.G2739C:p.T913T |
|
6 |
158924088 |
2 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_020245:exon13:c.T3393C:p.D1131D |
|
6 |
159184462 |
2 |
SYTL3 |
A |
G |
exonic |
synonymous SNV |
SYTL3:NM_001318745:exon14:c.A1026G:p.S342S,SYTL3:NM_001242395:exon15:c.A1440G:p.S480S,SYTL3:NM_001009991:exon16:c.A1440G:p.S480S,SYTL3:NM_001242394:exon17:c.A1644G:p.S548S,SYTL3:NM_001242384:exon18:c.A1644G:p.S548S |
RS2291387 |
Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
6 |
159420574 |
2 |
RSPH3 |
T |
C |
exonic |
synonymous SNV |
RSPH3:NM_001346418:exon1:c.A435G:p.S145S,RSPH3:NM_031924:exon1:c.A435G:p.S145S |
RS10945587 |
Triglycerides:Triglycerides change
with statins:Chronic kidney disease:Total cholesterol:LDL
cholesterol:Height:Gene expression change of TAGAP (ENSG00000164691) in
dendritic cells after treatment with Mycobacterium tuberculosis |
|
6 |
160464289 |
2 |
IGF2R |
G |
A |
exonic |
synonymous SNV |
IGF2R:NM_000876:exon12:c.G1590A:p.G530G |
RS894817 |
Overall Survival of Advanced
Non-small Cell Lung Cancer Patients Treated with Carboplatin and
Paclitaxel:Overall Survival of Advanced Non-small Cell Lung Cancer Patients
Treated with Carboplatin and Paclitaxel (Tumor response) |
|
6 |
160494409 |
2 |
IGF2R |
A |
G |
exonic |
nonsynonymous SNV |
IGF2R:NM_000876:exon34:c.A4855G:p.R1619G |
RS629849 |
Autism |
|
6 |
160505199 |
2 |
IGF2R |
C |
G |
exonic |
synonymous SNV |
IGF2R:NM_000876:exon40:c.C6051G:p.L2017L |
RS614754 |
Serum creatinine:Height |
|
6 |
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 |
168343838 |
2 |
AFDN |
T |
C |
exonic |
synonymous SNV |
AFDN:NM_001207008:exon22:c.T3060C:p.Y1020Y,AFDN:NM_001040000:exon23:c.T3108C:p.Y1036Y,AFDN:NM_001291964:exon23:c.T2985C:p.Y995Y |
RS1132306 |
Gene expression of MLLT4 [probe
2936857] in peripheral blood mononuclear cells:2 hour glucose:Gene expression
of C6orf54 in CD4+ lymphocytes:Gene expression of MLLT4 in blood:Bipolar
disorder:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in
Progressive Supranuclear Palsy cases:Gene expression of KIF25 (probeID
ILMN_1676679) in cerebellum in Alzheimer's disease cases:Hypertension (early
onset hypertension):Gene expression of KIF25 (probeID ILMN_1676679) in
temporal cortex in Alzheimer's disease cases:Gene expression of KIF25
(probeID ILMN_1676679) in cerebellum in non-Alzheimer's disease samples:Gene
expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of KIF25 (probeID ILMN_1676679) in
cerebellum in Alzheimer's disease cases and controls |
|
6 |
168349011 |
2 |
AFDN |
C |
T |
exonic |
synonymous SNV |
AFDN:NM_001207008:exon27:c.C3612T:p.I1204I,AFDN:NM_001040000:exon28:c.C3663T:p.I1221I,AFDN:NM_001291964:exon28:c.C3540T:p.I1180I |
RS9364371 |
Differential exon level expression
of MLLT4 [probe 2936933] in peripheral blood mononuclear cells:Gene
expression of MLLT4 [probe 2936857] in peripheral blood mononuclear
cells:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of KIF25
(probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and
controls:Aortic valve calcium:Gene expression of KIF25 (probeID ILMN_1676679)
in cerebellum in Alzheimer's disease cases and controls |
|
6 |
170070723 |
2 |
WDR27 |
A |
G |
exonic |
nonsynonymous SNV |
WDR27:NM_001350625:exon4:c.T398C:p.L133P,WDR27:NM_182552:exon4:c.T398C:p.L133P,WDR27:NM_001350624:exon5:c.T398C:p.L133P |
RS4236176 |
Type 1 diabetes, combined control
dataset:Hip bone mineral density (BMD):Gene expression of PHF10 in blood:Gene
expression of C6orf120 [probeset 221786_at] in sputum:Bipolar disorder:Years
of education:Aortic valve calcium |
|
6 |
170102267 |
2 |
C6orf120 |
A |
G |
exonic |
synonymous SNV |
C6orf120:NM_001317342:exon1:c.A9G:p.K3K |
|
6 |
170862300 |
2 |
PSMB1 |
G |
C |
exonic |
nonsynonymous SNV |
PSMB1:NM_002793:exon1:c.C31G:p.P11A |
RS12717 |
Gene expression of PDCD2 [probe
228420_at] in lymphoblastoid cell lines:Years of education:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
6 |
170878793 |
2 |
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 |
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 |
1481919 |
2 |
MICALL2 |
C |
A |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon7:c.G1620T:p.A540A |
|
7 |
1482009 |
2 |
MICALL2 |
G |
C |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon7:c.C1530G:p.L510L |
|
7 |
1484572 |
2 |
MICALL2 |
A |
G |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon6:c.T1134C:p.G378G |
|
7 |
1976457 |
2 |
MAD1L1 |
C |
T |
exonic |
nonsynonymous SNV |
MAD1L1:NM_001304525:exon2:c.G41A:p.R14H,MAD1L1:NM_001304524:exon15:c.G1397A:p.R466H,MAD1L1:NM_001304523:exon16:c.G1673A:p.R558H,MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H |
RS1801368 |
Prostate cancer |
|
7 |
2257612 |
2 |
MAD1L1 |
G |
A |
exonic |
synonymous SNV |
MAD1L1:NM_001304524:exon5:c.C387T:p.H129H,MAD1L1:NM_001304523:exon6:c.C663T:p.H221H,MAD1L1:NM_001013836:exon7:c.C663T:p.H221H,MAD1L1:NM_001013837:exon7:c.C663T:p.H221H,MAD1L1:NM_003550:exon7:c.C663T:p.H221H |
|
7 |
2297006 |
2 |
SNX8 |
A |
G |
exonic |
synonymous SNV |
SNX8:NM_013321:exon9:c.T1128C:p.I376I |
|
7 |
2303986 |
2 |
SNX8 |
T |
C |
exonic |
synonymous SNV |
SNX8:NM_013321:exon6:c.A729G:p.A243A |
RS2286206 |
HDL cholesterol |
|
7 |
2394746 |
2 |
EIF3B |
T |
C |
exonic |
nonsynonymous SNV |
EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P |
|
7 |
4780514 |
2 |
FOXK1 |
G |
T |
exonic |
synonymous SNV |
FOXK1:NM_001037165:exon2:c.G606T:p.T202T |
RS3087749 |
Height:Urinary
albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol
dependence:Obesity with early age of onset (age >2):Infant head
circumference |
|
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 |
5434135 |
2 |
TNRC18 |
A |
G |
exonic |
synonymous SNV |
TNRC18:NM_001080495:exon3:c.T279C:p.S93S |
|
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 |
6036980 |
2 |
PMS2 |
G |
C |
exonic |
synonymous SNV |
PMS2:NM_001322008:exon5:c.C462G:p.S154S,PMS2:NM_001322004:exon6:c.C375G:p.S125S,PMS2:NM_001322007:exon6:c.C462G:p.S154S,PMS2:NM_001322010:exon6:c.C375G:p.S125S,PMS2:NM_001322013:exon6:c.C207G:p.S69S,PMS2:NM_000535:exon7:c.C780G:p.S260S,PMS2:NM_001322003:exon7:c.C375G:p.S125S,PMS2:NM_001322005:exon7:c.C375G:p.S125S,PMS2:NM_001322006:exon7:c.C780G:p.S260S,PMS2:NM_001322009:exon7:c.C375G:p.S125S,PMS2:NM_001322014:exon7:c.C780G:p.S260S,PMS2:NM_001322015:exon7:c.C471G:p.S157S |
RS6463524 |
Fasting blood glucose:Total
cholesterol:Triglycerides:Years of education |
|
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 |
8125964 |
2 |
GLCCI1 |
C |
T |
exonic |
synonymous SNV |
GLCCI1:NM_138426:exon8:c.C1440T:p.S480S |
|
7 |
12269417 |
2 |
TMEM106B |
C |
G |
exonic |
nonsynonymous SNV |
TMEM106B:NM_001134232:exon5:c.C554G:p.T185S,TMEM106B:NM_018374:exon6:c.C554G:p.T185S |
RS3173615 |
Gene expression of FLJ11273 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height |
|
7 |
16823095 |
1 |
TSPAN13 |
G |
A |
exonic |
synonymous SNV |
TSPAN13:NM_014399:exon6:c.G594A:p.A198A |
RS11491 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
7 |
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 |
17379110 |
1 |
AHR |
G |
A |
exonic |
nonsynonymous SNV |
AHR:NM_001621:exon10:c.G1661A:p.R554K |
RS2066853 |
Arthritis including
non-Rheumatoid:Rheumatoid arthritis:Longstanding arthritis:Fasting
insulin:HDL cholesterol:Total cholesterol:Triglycerides:LDL
cholesterol:Neuroblastoma (brain cancer):Longevity:Habitual caffeine
consumption:Maternal transmission distortion:Transmission distortion |
|
7 |
24758795 |
2 |
DFNA5 |
T |
C |
exonic |
synonymous SNV |
DFNA5:NM_001127453:exon4:c.A447G:p.E149E,DFNA5:NM_004403:exon4:c.A447G:p.E149E |
RS876305 |
Methylation levels at
chr7:24763838-24763888 [hg18 coord, probe cg04770504] in Caudal pons |
|
7 |
24854765 |
2 |
OSBPL3 |
G |
A |
exonic |
synonymous SNV |
OSBPL3:NM_145322:exon16:c.C1884T:p.S628S,OSBPL3:NM_145320:exon17:c.C1992T:p.S664S,OSBPL3:NM_145321:exon17:c.C1977T:p.S659S,OSBPL3:NM_015550:exon19:c.C2085T:p.S695S |
RS1044956 |
Gene expression of DFNA5 in
peripheral blood monocytes:Years of education:College completion |
|
7 |
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 |
27135314 |
2 |
HOXA1 |
C |
T |
exonic |
nonsynonymous SNV |
HOXA1:NM_005522:exon1:c.G218A:p.R73H,HOXA1:NM_153620:exon1:c.G218A:p.R73H |
RS10951154 |
HDL cholesterol:2 hour
glucose:Adiponectin levels |
|
7 |
27169093 |
2 |
HOXA4 |
T |
G |
exonic |
synonymous SNV |
HOXA4:NM_002141:exon2:c.A714C:p.R238R |
RS2158218 |
Mitral annular calcium |
|
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 |
29070320 |
1 |
CPVL |
C |
T |
exonic |
nonsynonymous SNV |
CPVL:NM_019029:exon12:c.G1193A:p.R398H,CPVL:NM_031311:exon12:c.G1193A:p.R398H,CPVL:NM_001348054:exon13:c.G1193A:p.R398H,CPVL:NM_001348052:exon14:c.G1193A:p.R398H |
RS1052200 |
Stabilized warfarin
dose:Rheumatoid arthritis:Longstanding arthritis:Arthritis including
non-Rheumatoid:HDL cholesterol:Simpson-Angus Scale:Fasting
insulin:HOMA-IR:LDL cholesterol:Total cholesterol:CPVL gene expression:Gene
expression of CPVL in blood:Gene expression of CPVL (probeID ILMN_2400759) in
cerebellum in Progressive Supranuclear Palsy cases:Transmission
distortion:Gene expression of CPVL (probeID ILMN_2400759) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of CPVL (probeID
ILMN_2400759) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of CPVL (probeID ILMN_2400759) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of CPVL (probeID ILMN_2400759) in
cerebellum in non-Alzheimer's disease samples:Maternal transmission
distortion:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of CPVL (probeID ILMN_2400759) in temporal cortex in
Alzheimer's disease cases:Gene expression of CPVL (probeID ILMN_2400759) in
cerebellum in Alzheimer's disease cases:Diabetic retinopathy in Type 2
diabetes mellitus |
|
7 |
29519929 |
1 |
CHN2 |
A |
G |
exonic |
nonsynonymous SNV |
CHN2:NM_001039936:exon1:c.A203G:p.H68R,CHN2:NM_001293076:exon1:c.A203G:p.H68R,CHN2:NM_001293077:exon1:c.A203G:p.H68R,CHN2:NM_001293078:exon1:c.A203G:p.H68R,CHN2:NM_001293079:exon1:c.A203G:p.H68R,CHN2:NM_001293080:exon1:c.A203G:p.H68R,CHN2:NM_001293071:exon6:c.A506G:p.H169R,CHN2:NM_001293072:exon7:c.A566G:p.H189R,CHN2:NM_004067:exon7:c.A611G:p.H204R,CHN2:NM_001293069:exon8:c.A836G:p.H279R,CHN2:NM_001293070:exon8:c.A650G:p.H217R |
RS3750103 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Chronic kidney disease:Triglycerides:Neuroblastoma
(brain cancer) |
|
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 |
40314165 |
2 |
SUGCT |
G |
A |
exonic |
synonymous SNV |
SUGCT:NM_001193311:exon8:c.G651A:p.L217L,SUGCT:NM_001193313:exon8:c.G651A:p.L217L,SUGCT:NM_024728:exon8:c.G540A:p.L180L |
RS12669315 |
Parkinson's disease |
|
7 |
40899967 |
2 |
SUGCT |
G |
C |
exonic |
synonymous SNV |
SUGCT:NM_001193312:exon13:c.G1083C:p.P361P,SUGCT:NM_001193313:exon14:c.G1227C:p.P409P,SUGCT:NM_001193311:exon15:c.G1305C:p.P435P,SUGCT:NM_024728:exon15:c.G1194C:p.P398P |
RS2010706 |
2 hour glucose:Waist hip ratio:Birth
weight |
|
7 |
43664280 |
2 |
STK17A |
A |
G |
exonic |
nonsynonymous SNV |
STK17A:NM_004760:exon7:c.A1084G:p.K362E |
RS1044141 |
Gene expression of C7orf44 [probe
209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian
failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal
cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood
monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene
expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with
dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in
blood:Gene expression of [probe 6510438 centered at chr7:43637667] in
blood:Refractive error:Advanced age-related macular degeneration (geographic
atrophy) |
|
7 |
43846603 |
1 |
BLVRA |
A |
G |
exonic |
synonymous SNV |
BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G |
RS7738 |
Fasting blood glucose:Triglycerides
change with statins:Chronic kidney disease:LDL cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
7 |
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 |
45148667 |
1 |
TBRG4 |
G |
A |
exonic |
nonsynonymous SNV |
TBRG4:NM_001261834:exon2:c.C203T:p.P68L,TBRG4:NM_004749:exon2:c.C170T:p.P57L,TBRG4:NM_030900:exon2:c.C170T:p.P57L,TBRG4:NM_199122:exon2:c.C170T:p.P57L |
RS2304693 |
HOMA-IR:HOMA-B:Fasting
insulin:Partial epilepsy:Body mass index (BMI):Gene expression of MYO1G in
blood:Gene expression of [probe 3130358 centered at chr7:44989296] in
blood:Gene expression of CCM2 in blood:Gene expression of CCM2 in normal
prepouch ileum:Advanced age-related macular degeneration (geographic
atrophy):College completion:Aortic valve calcium:Tetrology of fallot:Years of
education |
|
7 |
45148773 |
1 |
TBRG4 |
C |
A |
exonic |
nonsynonymous SNV |
TBRG4:NM_001261834:exon2:c.G97T:p.A33S,TBRG4:NM_004749:exon2:c.G64T:p.A22S,TBRG4:NM_030900:exon2:c.G64T:p.A22S,TBRG4:NM_199122:exon2:c.G64T:p.A22S |
RS2304694 |
B-cell chronic lymphocytic
leukemia:HOMA-IR:HOMA-B:Partial epilepsy:Body mass index (BMI):Gene
expression of [probe 3130358 centered at chr7:44989296] in blood:Gene
expression of MYO1G in blood:Gene expression of CCM2 in blood:Advanced
age-related macular degeneration (geographic atrophy):Years of
education:Aortic valve calcium:Tetrology of fallot:College completion:Gene
expression of CCM2 in normal prepouch ileum |
|
7 |
48016353 |
1 |
HUS1 |
G |
T |
exonic |
nonsynonymous SNV |
HUS1:NM_004507:exon4:c.C439A:p.Q147K |
|
7 |
55214348 |
1 |
EGFR |
C |
T |
exonic |
synonymous SNV |
EGFR:NM_001346898:exon4:c.C474T:p.N158N,EGFR:NM_001346900:exon4:c.C315T:p.N105N,EGFR:NM_005228:exon4:c.C474T:p.N158N,EGFR:NM_201282:exon4:c.C474T:p.N158N,EGFR:NM_201283:exon4:c.C474T:p.N158N,EGFR:NM_201284:exon4:c.C474T:p.N158N |
RS2072454 |
2 hour glucose:Severe diabetic
retinopathy in type 1 diabetes (without nephropathy):Severe diabetic
retinopathy in type 1 diabetes:Chemotherapeutic susceptibility in
lymphoblastoid cell lines (cytarabine_AUC):Transmission distortion:College
completion |
|
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 |
56079465 |
1 |
PSPH |
A |
G |
exonic |
nonsynonymous SNV |
PSPH:NM_004577:exon8:c.T668C:p.L223P |
|
7 |
56088825 |
1 |
PSPH |
T |
A |
exonic |
nonsynonymous SNV |
PSPH:NM_004577:exon4:c.A81T:p.R27S |
|
7 |
56126360 |
2 |
CCT6A |
T |
C |
exonic |
synonymous SNV |
CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V |
|
7 |
56136260 |
2 |
SUMF2 |
C |
A |
exonic |
nonsynonymous SNV |
SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E |
|
7 |
64291991 |
2 |
ZNF138 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y |
|
7 |
64438667 |
2 |
ERV3-1-ZNF117;ZNF117 |
G |
A |
exonic |
stopgain |
ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X |
|
7 |
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 |
64864607 |
2 |
ZNF92 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF92:NM_001287534:exon2:c.G1352A:p.R451H,ZNF92:NM_001287532:exon3:c.G1484A:p.R495H,ZNF92:NM_007139:exon3:c.G1373A:p.R458H,ZNF92:NM_152626:exon4:c.G1580A:p.R527H,ZNF92:NM_001287533:exon5:c.G1352A:p.R451H |
|
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 |
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 |
75609677 |
1 |
POR |
A |
G |
exonic |
synonymous SNV |
POR:NM_000941:exon5:c.A387G:p.P129P |
|
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 |
76111836 |
1 |
DTX2 |
G |
A |
exonic |
nonsynonymous SNV |
DTX2:NM_001102596:exon2:c.G280A:p.A94T,DTX2:NM_001102595:exon3:c.G280A:p.A94T,DTX2:NM_001102594:exon4:c.G280A:p.A94T,DTX2:NM_020892:exon5:c.G280A:p.A94T |
|
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 |
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 |
77256713 |
2 |
PTPN12 |
A |
G |
exonic |
nonsynonymous SNV |
PTPN12:NM_001131009:exon12:c.A1327G:p.T443A,PTPN12:NM_001131008:exon13:c.A1360G:p.T454A,PTPN12:NM_002835:exon13:c.A1717G:p.T573A |
RS3750050 |
Simpson-Angus Scale:Triglycerides
change with statins:Serum creatinine:Total cholesterol:LDL cholesterol:Gene
expression of PTPN12 in blood:College completion:Gene expression of RSBN1L
(ENSG00000187257) in dendritic cells treated with Mycobacterium tuberculosis |
|
7 |
84628989 |
1 |
SEMA3D |
T |
G |
exonic |
nonsynonymous SNV |
SEMA3D:NM_152754:exon17:c.A2101C:p.K701Q |
RS7800072 |
HDL cholesterol:2 hour glucose |
|
7 |
89861890 |
2 |
STEAP2 |
G |
T |
exonic |
nonsynonymous SNV |
STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I |
RS194525 |
Fasting blood glucose:HDL
cholesterol change with statins:Partial epilepsy:Birth weight:Gene expression
of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease
samples:Years of education:Gene expression of STEAP2 in normal prepouch ileum:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum
in Alzheimer's disease cases and controls:Aortic valve calcium:Gene
expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum
in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID
ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in
cerebellum in Alzheimer's disease cases and controls |
|
7 |
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 |
91503228 |
1 |
MTERF1 |
C |
T |
exonic |
nonsynonymous SNV |
MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T |
RS10266424 |
Gene expression of AKAP9 [probe
215483_at] in lymphoblastoid cell lines:Height:Infant head
circumference:Advanced age-related macular degeneration:College completion |
|
7 |
91632306 |
2 |
AKAP9 |
C |
T |
exonic |
synonymous SNV |
AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T |
RS1989779 |
Cystatin C in serum:Height:Years of
education |
|
7 |
91714911 |
2 |
AKAP9 |
C |
T |
exonic |
nonsynonymous SNV |
AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S |
|
7 |
91842554 |
1 |
KRIT1 |
T |
C |
exonic |
synonymous SNV |
KRIT1:NM_001013406:exon15:c.A1836G:p.V612V,KRIT1:NM_001350669:exon15:c.A1836G:p.V612V,KRIT1:NM_001350672:exon15:c.A1980G:p.V660V,KRIT1:NM_001350691:exon15:c.A1980G:p.V660V,KRIT1:NM_001350695:exon15:c.A1980G:p.V660V,KRIT1:NM_001350670:exon16:c.A1836G:p.V612V,KRIT1:NM_001350671:exon16:c.A1266G:p.V422V,KRIT1:NM_001350673:exon16:c.A1980G:p.V660V,KRIT1:NM_001350677:exon16:c.A1980G:p.V660V,KRIT1:NM_001350678:exon16:c.A1980G:p.V660V,KRIT1:NM_001350679:exon16:c.A1980G:p.V660V,KRIT1:NM_001350680:exon16:c.A1980G:p.V660V,KRIT1:NM_001350683:exon16:c.A1980G:p.V660V,KRIT1:NM_001350686:exon16:c.A1980G:p.V660V,KRIT1:NM_001350687:exon16:c.A1980G:p.V660V,KRIT1:NM_001350688:exon16:c.A1980G:p.V660V,KRIT1:NM_001350690:exon16:c.A1980G:p.V660V,KRIT1:NM_001350692:exon16:c.A1980G:p.V660V,KRIT1:NM_001350694:exon16:c.A1980G:p.V660V,KRIT1:NM_001350696:exon16:c.A1980G:p.V660V,KRIT1:NM_001350675:exon17:c.A1980G:p.V660V,KRIT1:NM_001350676:exon17:c.A1980G:p.V660V,KRIT1:NM_001350684:exon17:c.A1980G:p.V660V,KRIT1:NM_001350685:exon17:c.A1980G:p.V660V,KRIT1:NM_001350689:exon17:c.A1980G:p.V660V,KRIT1:NM_001350693:exon17:c.A1980G:p.V660V,KRIT1:NM_004912:exon17:c.A1980G:p.V660V,KRIT1:NM_194454:exon17:c.A1980G:p.V660V,KRIT1:NM_194455:exon17:c.A1980G:p.V660V,KRIT1:NM_001350674:exon18:c.A1980G:p.V660V,KRIT1:NM_001350681:exon18:c.A1980G:p.V660V,KRIT1:NM_001350682:exon18:c.A1980G:p.V660V,KRIT1:NM_001350697:exon18:c.A1980G:p.V660V,KRIT1:NM_194456:exon18:c.A1980G:p.V660V |
RS11542682 |
Serum creatinine:Triglycerides |
|
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 |
97488569 |
2 |
ASNS |
A |
T |
exonic |
nonsynonymous SNV |
ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E |
RS1049674 |
APOB (apolipoprotein B):Body mass
index (BMI) |
|
7 |
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 |
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 |
100460331 |
1 |
SLC12A9 |
G |
A |
exonic |
synonymous SNV |
SLC12A9:NM_001267814:exon11:c.G1473A:p.P491P,SLC12A9:NM_001267812:exon13:c.G1740A:p.P580P,SLC12A9:NM_020246:exon13:c.G1740A:p.P580P |
|
7 |
100468284 |
2 |
TRIP6 |
A |
G |
exonic |
synonymous SNV |
TRIP6:NM_003302:exon6:c.A918G:p.V306V |
|
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 |
100731505 |
1 |
TRIM56 |
C |
G |
exonic |
synonymous SNV |
TRIM56:NM_030961:exon3:c.C912G:p.A304A |
|
7 |
100731776 |
1 |
TRIM56 |
C |
T |
exonic |
nonsynonymous SNV |
TRIM56:NM_030961:exon3:c.C1183T:p.R395W |
|
7 |
100731829 |
1 |
TRIM56 |
T |
C |
exonic |
synonymous SNV |
TRIM56:NM_030961:exon3:c.T1236C:p.A412A |
RS6948536 |
Gene expression of Hs.397369 in JPT
lymphoblastoid cell lines:HDL cholesterol:Diabetic retinopathy in Type 2
diabetes mellitus:Gene expression change of VGF (ENSG00000128564) in
dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression
of MUC17 in normal prepouch ileum:Adiponectin levels:Acute lung injury
following major trauma |
|
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 |
107569517 |
1 |
LAMB1 |
A |
G |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon31:c.T4879C:p.L1627L |
|
7 |
107603431 |
1 |
LAMB1 |
A |
C |
exonic |
synonymous SNV |
LAMB1:NM_002291:exon15:c.T1776G:p.P592P |
RS2230156 |
Salmonella-induced pyroptosis |
|
7 |
107849908 |
2 |
NRCAM |
G |
T |
exonic |
nonsynonymous SNV |
NRCAM:NM_001037132:exon9:c.C1032A:p.N344K,NRCAM:NM_001193583:exon11:c.C975A:p.N325K,NRCAM:NM_001193584:exon11:c.C975A:p.N325K,NRCAM:NM_005010:exon11:c.C1014A:p.N338K,NRCAM:NM_001193582:exon12:c.C1032A:p.N344K |
RS1269621 |
Diastolic blood pressure
(DBP):Hypertension (early onset hypertension):Years of education:Refractive
error |
|
7 |
114619598 |
2 |
MDFIC |
C |
A |
exonic |
synonymous SNV |
MDFIC:NM_001166345:exon4:c.C255A:p.A85A,MDFIC:NM_199072:exon4:c.C582A:p.A194A |
|
7 |
116435768 |
1 |
MET |
C |
T |
exonic |
synonymous SNV |
MET:NM_001324402:exon19:c.C2568T:p.D856D,MET:NM_000245:exon20:c.C3858T:p.D1286D,MET:NM_001127500:exon20:c.C3912T:p.D1304D |
RS41736 |
HDL
cholesterol:Triglycerides:Simpson-Angus Scale:HOMA-B:Triglycerides:HDL
cholesterol:Transmission distortion:Paternal transmission distortion |
|
7 |
116436022 |
1 |
MET |
G |
A |
exonic |
synonymous SNV |
MET:NM_001324402:exon20:c.G2727A:p.A909A,MET:NM_000245:exon21:c.G4017A:p.A1339A,MET:NM_001127500:exon21:c.G4071A:p.A1357A |
RS2023748 |
HDL
cholesterol:Triglycerides:HOMA-B:Triglycerides:HDL cholesterol |
|
7 |
116436097 |
1 |
MET |
G |
A |
exonic |
synonymous SNV |
MET:NM_001324402:exon20:c.G2802A:p.P934P,MET:NM_000245:exon21:c.G4092A:p.P1364P,MET:NM_001127500:exon21:c.G4146A:p.P1382P |
RS41737 |
HDL
cholesterol:Triglycerides:HOMA-B:Triglycerides:HDL cholesterol |
|
7 |
120428799 |
2 |
TSPAN12 |
C |
A |
exonic |
synonymous SNV |
TSPAN12:NM_012338:exon8:c.G765T:p.P255P |
RS41623 |
HDL cholesterol:Age at death with
kuru exposure:Years of education:Diabetic retinopathy in Type 2 diabetes
mellitus |
|
7 |
123388732 |
2 |
WASL |
G |
A |
exonic |
synonymous SNV |
WASL:NM_003941:exon1:c.C57T:p.S19S |
|
7 |
124387374 |
2 |
GPR37 |
A |
G |
exonic |
synonymous SNV |
GPR37:NM_005302:exon2:c.T1047C:p.T349T |
RS724356 |
HOMA-B:Fasting
insulin:HOMA-IR:Microalbuminuria:Mitral annular calcium |
|
7 |
127222157 |
1 |
GCC1 |
G |
A |
exonic |
synonymous SNV |
GCC1:NM_024523:exon2:c.C2239T:p.L747L |
|
7 |
127224286 |
1 |
GCC1 |
A |
G |
exonic |
synonymous SNV |
GCC1:NM_024523:exon1:c.T951C:p.D317D |
RS3735642 |
Parkinson's disease:Mitral annular
calcium |
|
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 |
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 |
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 |
133580447 |
2 |
EXOC4 |
G |
A |
exonic |
synonymous SNV |
EXOC4:NM_021807:exon12:c.G1830A:p.V610V |
RS2042456 |
HDL cholesterol change with
statins:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
7 |
133749164 |
1 |
EXOC4 |
G |
A |
exonic |
synonymous SNV |
EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q |
RS6953296 |
HDL cholesterol:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:College completion |
|
7 |
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 |
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 |
135329690 |
1 |
NUP205 |
T |
C |
exonic |
synonymous SNV |
NUP205:NM_001329434:exon40:c.T4533C:p.A1511A,NUP205:NM_015135:exon40:c.T5607C:p.A1869A |
RS12540688 |
Schizophrenia:Cystatin C in
serum:Total cholesterol:Maternal 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 |
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 |
148801091 |
2 |
ZNF425 |
G |
A |
exonic |
synonymous SNV |
ZNF425:NM_001001661:exon4:c.C1872T:p.N624N |
RS11525060 |
Rheumatoid arthritis:Gene
expression of ZNF786 in normal prepouch ileum:Gene expression of ZNF425 in
normal prepouch ileum |
|
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 |
149462523 |
1 |
ZNF467 |
C |
G |
exonic |
synonymous SNV |
ZNF467:NM_207336:exon5:c.G1068C:p.A356A |
|
7 |
150034184 |
1 |
LRRC61 |
T |
C |
exonic |
synonymous SNV |
LRRC61:NM_023942:exon2:c.T234C:p.A78A,LRRC61:NM_001142928:exon3:c.T234C:p.A78A |
RS3735170 |
Methylation levels at
chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Caudal
pons:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe
cg12556325] in Frontal cortex:Methylation levels at chr7:149657614-149657664
[hg18 coord, probe cg12556325] in Temporal cortex:Methylation levels at
chr7:149657933-149657983 [hg18 coord, probe cg04999691] in
Cerebellum:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe
cg12556325] in Cerebellum:Body mass index (BMI):Gene expression of LRRC61
(probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases:Gene
expression of LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of LRRC61 (probeID ILMN_1669722)
in cerebellum in non-Alzheimer's disease samples:Gene expression of LRRC61 in
normal prepouch ileum:Parkinson's disease:Gene expression of RARRES2 in
normal prepouch ileum:Birth weight |
|
7 |
150034378 |
1 |
LRRC61 |
A |
G |
exonic |
nonsynonymous SNV |
LRRC61:NM_023942:exon2:c.A428G:p.N143S,LRRC61:NM_001142928:exon3:c.A428G:p.N143S |
RS3735169 |
Gene expression of C7orf29 in CEU
lymphoblastoid cell lines:Methylation levels at chr7:149657614-149657664
[hg18 coord, probe cg12556325] in Caudal pons:Methylation levels at
chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Frontal
cortex:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe
cg12556325] in Temporal cortex:Methylation levels at chr7:149657933-149657983
[hg18 coord, probe cg04999691] in Cerebellum:Methylation levels at
chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Cerebellum:Body
mass index (BMI):Parkinson's disease:Gene expression of LRRC61 (probeID
ILMN_1669722) in cerebellum in Alzheimer's disease cases:Gene expression of
LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases and
controls:Birth weight:Gene expression of LRRC61 (probeID ILMN_1669722) in
cerebellum in non-Alzheimer's disease samples |
|
7 |
150068605 |
1 |
REPIN1 |
G |
A |
exonic |
nonsynonymous SNV |
REPIN1:NM_014374:exon1:c.G275A:p.R92H,REPIN1:NM_001099696:exon2:c.G275A:p.R92H,REPIN1:NM_001099695:exon3:c.G446A:p.R149H,REPIN1:NM_013400:exon4:c.G275A:p.R92H |
|
7 |
150068620 |
1 |
REPIN1 |
C |
T |
exonic |
nonsynonymous SNV |
REPIN1:NM_014374:exon1:c.C290T:p.A97V,REPIN1:NM_001099696:exon2:c.C290T:p.A97V,REPIN1:NM_001099695:exon3:c.C461T:p.A154V,REPIN1:NM_013400:exon4:c.C290T:p.A97V |
|
7 |
150093701 |
2 |
ZNF775 |
A |
C |
exonic |
synonymous SNV |
ZNF775:NM_173680:exon3:c.A132C:p.I44I |
RS940453 |
Coronary artery disease (CAD):2 hour
glucose:Birth weight |
|
7 |
150648789 |
2 |
KCNH2 |
T |
C |
exonic |
synonymous SNV |
KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L |
RS1805121 |
Height:Microalbuminuria:Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
150916228 |
2 |
ABCF2 |
G |
A |
exonic |
synonymous SNV |
ABCF2:NM_005692:exon8:c.C939T:p.Y313Y,ABCF2:NM_007189:exon8:c.C939T:p.Y313Y |
RS6949587 |
Alzheimer's disease:Plasma renin
activity:Height:Microalbuminuria:Gene expression of ABCF2 [probeset
209246_at] in sputum:Gene expression of ABCF2 in normal prepouch
ileum:College completion:Years of education |
|
7 |
150921950 |
2 |
ABCF2 |
A |
G |
exonic |
synonymous SNV |
ABCF2:NM_005692:exon3:c.T279C:p.L93L,ABCF2:NM_007189:exon3:c.T279C:p.L93L |
|
7 |
150931268 |
2 |
CHPF2 |
C |
G |
exonic |
synonymous SNV |
CHPF2:NM_019015:exon1:c.C171G:p.S57S,CHPF2:NM_001284295:exon2:c.C147G:p.S49S |
RS2608293 |
Height:Microalbuminuria:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:College
completion:Years of education |
|
7 |
150934975 |
2 |
CHPF2 |
C |
G |
exonic |
synonymous SNV |
CHPF2:NM_019015:exon4:c.C1527G:p.A509A,CHPF2:NM_001284295:exon5:c.C1503G:p.A501A |
RS2487154 |
Height:Microalbuminuria:Years of
education:Parkinson's disease:College completion |
|
7 |
151064064 |
1 |
NUB1 |
C |
T |
exonic |
synonymous SNV |
NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y |
RS386956 |
Triglycerides change with
statins:Lp-PLA2 mass:Gene expression of WDR86 in peripheral blood
monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years
of education:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:College completion |
|
7 |
151074296 |
1 |
NUB1 |
A |
G |
exonic |
synonymous SNV |
NUB1:NM_001243351:exon15:c.A1905G:p.A635A,NUB1:NM_016118:exon15:c.A1863G:p.A621A |
RS2159158 |
Fasting blood glucose:HDL
cholesterol:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Years of education:Infant head circumference |
|
7 |
151181846 |
1 |
RHEB |
G |
A |
exonic |
stopgain |
RHEB:NM_005614:exon3:c.C169T:p.Q57X |
|
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 |
157000176 |
1 |
UBE3C |
T |
C |
exonic |
synonymous SNV |
UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y |
RS2301914 |
Gene expression of probe 1560738_at
in lymphoblastoid cell lines:Gene expression of probe 1560739_a_at in
lymphoblastoid cell lines:Body mass index (BMI):Atopic
dermatitis:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG |
|
7 |
158534372 |
1 |
ESYT2 |
G |
A |
exonic |
synonymous SNV |
ESYT2:NM_020728:exon17:c.C2091T:p.A697A |
|
7 |
158534381 |
1 |
ESYT2 |
G |
C |
exonic |
synonymous SNV |
ESYT2:NM_020728:exon17:c.C2082G:p.P694P |
|
7 |
158536267 |
1 |
ESYT2 |
T |
C |
exonic |
nonsynonymous SNV |
ESYT2:NM_020728:exon16:c.A1828G:p.S610G |
RS2305473 |
Gene expression of KIAA1228 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol |
|
7 |
158536334 |
1 |
ESYT2 |
G |
A |
exonic |
synonymous SNV |
ESYT2:NM_020728:exon16:c.C1761T:p.N587N |
|
7 |
158536345 |
1 |
ESYT2 |
A |
G |
exonic |
nonsynonymous SNV |
ESYT2:NM_020728:exon16:c.T1750C:p.S584P |
RS2305475 |
LDL cholesterol:Microalbuminuria |
|
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 |
158715219 |
2 |
WDR60 |
A |
G |
exonic |
synonymous SNV |
WDR60:NM_001350915:exon15:c.A1500G:p.K500K,WDR60:NM_001350916:exon15:c.A612G:p.K204K,WDR60:NM_001350914:exon16:c.A1935G:p.K645K,WDR60:NM_018051:exon16:c.A2073G:p.K691K,WDR60:NM_001350917:exon17:c.A825G:p.K275K,WDR60:NM_001350918:exon18:c.A825G:p.K275K |
RS2730238 |
Gene expression of WDR60 in
peripheral blood monocytes:Gene expression of ST8SIA6 in peripheral blood
monocytes |
|
8 |
363192 |
2 |
FBXO25 |
G |
A |
exonic |
nonsynonymous SNV |
FBXO25:NM_183420:exon2:c.G113A:p.R38H,FBXO25:NM_183421:exon2:c.G113A:p.R38H |
|
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 |
8234077 |
2 |
PRAG1 |
G |
C |
exonic |
synonymous SNV |
PRAG1:NM_001080826:exon3:c.C1842G:p.A614A |
RS4840952 |
Triglycerides:Total cholesterol:Body
mass index (BMI):Parkinson's disease |
|
8 |
8234192 |
2 |
PRAG1 |
G |
C |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon3:c.C1727G:p.S576C |
RS4840953 |
Total cholesterol:Body mass index
(BMI):Microalbuminuria:Parkinson's disease:College completion |
|
8 |
8234714 |
2 |
PRAG1 |
C |
T |
exonic |
nonsynonymous SNV |
PRAG1:NM_001080826:exon3:c.G1205A:p.R402Q |
|
8 |
8747894 |
2 |
MFHAS1 |
A |
G |
exonic |
nonsynonymous SNV |
MFHAS1:NM_004225:exon1:c.T2675C:p.L892P |
RS429433 |
Hip bone mineral density
(BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL
cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity
with early age of onset (age >2):Birth weight |
|
8 |
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 |
11689119 |
2 |
FDFT1 |
G |
C |
exonic |
synonymous SNV |
FDFT1:NM_001287756:exon4:c.G471C:p.L157L,FDFT1:NM_001287750:exon6:c.G1149C:p.L383L,FDFT1:NM_001287751:exon6:c.G717C:p.L239L,FDFT1:NM_001287744:exon7:c.G780C:p.L260L,FDFT1:NM_001287747:exon7:c.G780C:p.L260L,FDFT1:NM_001287748:exon7:c.G780C:p.L260L,FDFT1:NM_001287749:exon7:c.G780C:p.L260L,FDFT1:NM_004462:exon7:c.G972C:p.L324L,FDFT1:NM_001287743:exon8:c.G972C:p.L324L,FDFT1:NM_001287745:exon8:c.G780C:p.L260L,FDFT1:NM_001287742:exon9:c.G972C:p.L324L |
RS9205 |
Triglycerides:Triglycerides:Waist
hip ratio:Body mass index (BMI):Parkinson's disease:Refractive error:College
completion |
|
8 |
11706581 |
2 |
CTSB |
T |
C |
exonic |
synonymous SNV |
CTSB:NM_001908:exon5:c.A420G:p.T140T,CTSB:NM_147781:exon6:c.A420G:p.T140T,CTSB:NM_147782:exon6:c.A420G:p.T140T,CTSB:NM_147783:exon6:c.A420G:p.T140T,CTSB:NM_147780:exon7:c.A420G:p.T140T |
|
8 |
11710888 |
2 |
CTSB |
G |
C |
exonic |
nonsynonymous SNV |
CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V |
RS12338 |
Triglycerides:LDL
cholesterol:Parkinson's disease |
|
8 |
13424583 |
2 |
C8orf48 |
C |
T |
exonic |
nonsynonymous SNV |
C8orf48:NM_001007090:exon1:c.C83T:p.S28F |
RS13273355 |
LDL cholesterol:Atopy:Allergic
rhinitis |
|
8 |
13425353 |
2 |
C8orf48 |
T |
A |
exonic |
nonsynonymous SNV |
C8orf48:NM_001007090:exon1:c.T853A:p.L285M |
|
8 |
17142065 |
2 |
VPS37A |
C |
T |
exonic |
synonymous SNV |
VPS37A:NM_001145152:exon9:c.C978T:p.D326D,VPS37A:NM_152415:exon10:c.C1053T:p.D351D |
RS2285269 |
Parkinson's disease |
|
8 |
17500223 |
2 |
PDGFRL |
T |
C |
exonic |
synonymous SNV |
PDGFRL:NM_006207:exon7:c.T1041C:p.F347F |
RS4705 |
HOMA-IR:Total cholesterol change
with statins:Gene expression of FGL1 [probe 205305_at] in prefrontal
cortex:Body mass index (BMI):Diastolic blood pressure (DBP):Birth weight |
|
8 |
17541999 |
2 |
MTUS1 |
T |
C |
exonic |
synonymous SNV |
MTUS1:NM_020749:exon2:c.A174G:p.T58T,MTUS1:NM_001001931:exon4:c.A417G:p.T139T,MTUS1:NM_001166393:exon4:c.A111G:p.T37T,MTUS1:NM_001001925:exon6:c.A2514G:p.T838T,MTUS1:NM_001001924:exon7:c.A2676G:p.T892T |
RS2979792 |
Birth weight |
|
8 |
17743020 |
2 |
FGL1 |
G |
A |
exonic |
nonsynonymous SNV |
FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I |
RS484373 |
Spine bone mineral density
(BMD):Triglycerides:Height:Gene expression of PCM1 in blood:Gene expression
of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID
ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls |
|
8 |
17796382 |
2 |
PCM1 |
A |
G |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S |
RS412750 |
Hip bone mineral density
(BMD):Triglycerides:Differential exon level expression of PCM1 [probe
3087841] in brain cortex:Triglycerides:Gene expression of FGL1 (probeID
ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's
disease cases and controls |
|
8 |
17796383 |
2 |
PCM1 |
C |
T |
exonic |
synonymous SNV |
PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N |
|
8 |
17814915 |
2 |
PCM1 |
A |
G |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V |
RS208753 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Differential exon level expression of
PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of PCM1 in
blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases
and controls |
|
8 |
17817553 |
2 |
PCM1 |
G |
T |
exonic |
nonsynonymous SNV |
PCM1:NM_001315507:exon14:c.G2071T:p.A691S,PCM1:NM_001315508:exon14:c.G2074T:p.A692S,PCM1:NM_006197:exon14:c.G2071T:p.A691S |
RS17635381 |
Rheumatoid arthritis, cyclic
citrullinated peptide (CCP) positive:Triglycerides:Biploar disorder (bipolar
schizoaffective disorder):Serum creatinine:Advanced age-related macular
degeneration (geographic atrophy):Adiponectin levels:Birth weight:Advanced age-related
macular degeneration |
|
8 |
17820714 |
2 |
PCM1 |
A |
T |
exonic |
synonymous SNV |
PCM1:NM_001315507:exon17:c.A2568T:p.L856L,PCM1:NM_001315508:exon17:c.A2571T:p.L857L,PCM1:NM_006197:exon17:c.A2568T:p.L856L |
RS6991775 |
Triglycerides:Serum
creatinine:Advanced age-related macular degeneration:Adiponectin levels:Birth
weight:Advanced age-related macular degeneration (geographic atrophy) |
|
8 |
17918934 |
2 |
ASAH1 |
A |
G |
exonic |
nonsynonymous SNV |
ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A |
RS10103355 |
Serum creatinine:Adiponectin levels |
|
8 |
17927327 |
2 |
ASAH1 |
T |
C |
exonic |
nonsynonymous SNV |
ASAH1:NM_004315:exon4:c.A325G:p.I109V,ASAH1:NM_177924:exon4:c.A277G:p.I93V |
RS1049874 |
Differential exon level expression
of ASAH1 [probe 3126118] in brain cortex:LDL cholesterol:Total
cholesterol:Partial epilepsy:Height:Gene expression of ASAH1 in
blood:Sporadic Creutzfeldt-Jakob disease:College completion |
|
8 |
18729817 |
2 |
PSD3 |
G |
A |
exonic |
nonsynonymous SNV |
PSD3:NM_015310:exon3:c.C557T:p.T186M |
RS7016219 |
Rheumatoid arthritis:Premature
ovarian failure:HDL cholesterol:HDL cholesterol:Bipolar disorder:Obesity with
early age of onset (age >2):Mitral annular calcium:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
8 |
18729818 |
2 |
PSD3 |
T |
G |
exonic |
nonsynonymous SNV |
PSD3:NM_015310:exon3:c.A556C:p.T186P |
RS7003060 |
Rheumatoid arthritis:Premature
ovarian failure:HDL cholesterol:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Obesity with early age of onset
(age >2):Mitral annular calcium |
|
8 |
22262321 |
2 |
SLC39A14 |
T |
C |
exonic |
nonsynonymous SNV |
SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_001351659:exon2:c.T128C:p.L43P,SLC39A14:NM_001351660:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P,SLC39A14:NM_001351655:exon3:c.T98C:p.L33P,SLC39A14:NM_001351658:exon3:c.T128C:p.L43P,SLC39A14:NM_001351656:exon4:c.T98C:p.L33P,SLC39A14:NM_001351657:exon4:c.T128C:p.L43P |
RS896378 |
Rheumatoid arthritis |
|
8 |
22262418 |
2 |
SLC39A14 |
A |
G |
exonic |
synonymous SNV |
SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_001351659:exon2:c.A225G:p.L75L,SLC39A14:NM_001351660:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L,SLC39A14:NM_001351655:exon3:c.A195G:p.L65L,SLC39A14:NM_001351658:exon3:c.A225G:p.L75L,SLC39A14:NM_001351656:exon4:c.A195G:p.L65L,SLC39A14:NM_001351657:exon4:c.A225G:p.L75L |
RS2293144 |
Rheumatoid arthritis |
|
8 |
22428658 |
2 |
SORBS3 |
T |
C |
exonic |
nonsynonymous SNV |
SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T |
RS2449331 |
Autism with low IQ:Obesity with
early age of onset (age >2) |
|
8 |
22864622 |
2 |
RHOBTB2 |
T |
C |
exonic |
synonymous SNV |
RHOBTB2:NM_001160037:exon5:c.T885C:p.S295S,RHOBTB2:NM_015178:exon5:c.T864C:p.S288S,RHOBTB2:NM_001160036:exon7:c.T930C:p.S310S |
RS2466178 |
Irritible bowel
syndrome:Alzheimer's disease:HOMA-IR:Fasting insulin:HDL cholesterol:Gene
expression of PEBP4 (probeID ILMN_1734472) in cerebellum in Alzheimer's
disease cases and controls:College completion:Gene expression of PEBP4
(probeID ILMN_1734472) in temporal cortex in Alzheimer's disease cases and
controls |
|
8 |
22886020 |
2 |
TNFRSF10B |
A |
G |
exonic |
nonsynonymous SNV |
TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A |
|
8 |
22900701 |
2 |
TNFRSF10B |
G |
A |
exonic |
nonsynonymous SNV |
TNFRSF10B:NM_003842:exon2:c.C200T:p.A67V,TNFRSF10B:NM_147187:exon2:c.C200T:p.A67V |
RS1047266 |
Alzheimer's disease:Cystatin C in
serum:Infant head circumference:Advanced age-related macular degeneration
(geographic atrophy) |
|
8 |
22926313 |
2 |
TNFRSF10B |
G |
A |
exonic |
nonsynonymous SNV |
TNFRSF10B:NM_003842:exon1:c.C95T:p.P32L,TNFRSF10B:NM_147187:exon1:c.C95T:p.P32L |
|
8 |
23001988 |
2 |
TNFRSF10D |
A |
G |
exonic |
nonsynonymous SNV |
TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S |
RS1133782 |
Gene expression of
RHOBTB2///TNFRSF10B in blood |
|
8 |
23021346 |
2 |
TNFRSF10D |
G |
A |
exonic |
nonsynonymous SNV |
TNFRSF10D:NM_003840:exon1:c.C103T:p.P35S |
|
8 |
23049292 |
2 |
TNFRSF10A |
C |
T |
exonic |
nonsynonymous SNV |
TNFRSF10A:NM_003844:exon10:c.G1322A:p.R441K |
RS2230229 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Gene expression of [probe 6940047
centered at chr8:23177910] in blood:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
8 |
23060256 |
2 |
TNFRSF10A |
T |
C |
exonic |
nonsynonymous SNV |
TNFRSF10A:NM_003844:exon3:c.A422G:p.H141R |
RS6557634 |
Parkinson's disease (PD):Response
to Lithium Treatment for Bipolar disorder:Gene expression of [probe 670494
centered at chr8:23143927] in blood:Gene expression of TNFRSF10A in blood |
|
8 |
23147564 |
2 |
R3HCC1;R3HCC1 |
G |
A |
exonic;splicing |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon4:c.G434A:p.R145K |
RS3808536 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (narrow definition) (males):LDL
cholesterol:Total cholesterol:Height:Gene expression of [probe 6940047
centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in
blood |
|
8 |
23148930 |
2 |
R3HCC1 |
A |
G |
exonic |
synonymous SNV |
R3HCC1:NM_001136108:exon5:c.A909G:p.T303T,R3HCC1:NM_001301650:exon6:c.A783G:p.T261T |
RS2272762 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (narrow definition) (males):LDL
cholesterol:Height |
|
8 |
23148940 |
2 |
R3HCC1 |
G |
A |
exonic |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon5:c.G919A:p.V307M,R3HCC1:NM_001301650:exon6:c.G793A:p.V265M |
RS2272761 |
Triglycerides:Major depressive
disorder (broad definition) (males):Major depressive disorder (narrow
definition) (males):LDL cholesterol:Height:Gene expression of [probe 6940047
centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood:Gene
expression of R3HCC1 in normal prepouch ileum |
|
8 |
23150878 |
2 |
R3HCC1 |
T |
G |
exonic |
nonsynonymous SNV |
R3HCC1:NM_001136108:exon6:c.T1088G:p.L363R,R3HCC1:NM_001301650:exon7:c.T962G:p.L321R |
RS13530 |
Major depressive disorder (broad
definition) (males):Major depressive disorder (narrow definition) (males) |
|
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 |
25234858 |
2 |
DOCK5 |
A |
G |
exonic |
nonsynonymous SNV |
DOCK5:NM_024940:exon38:c.A3854G:p.K1285R |
|
8 |
25323777 |
2 |
CDCA2 |
T |
C |
exonic |
synonymous SNV |
CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N |
|
8 |
26481771 |
2 |
DPYSL2 |
T |
C |
exonic |
synonymous SNV |
DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S |
|
8 |
26606201 |
1 |
ADRA1A |
C |
T |
exonic |
nonsynonymous SNV |
ADRA1A:NM_033303:exon3:c.G1334A:p.R445H |
|
8 |
27311703 |
2 |
PTK2B |
T |
C |
exonic |
synonymous SNV |
PTK2B:NM_173175:exon28:c.T2502C:p.T834T,PTK2B:NM_173176:exon29:c.T2628C:p.T876T,PTK2B:NM_004103:exon30:c.T2628C:p.T876T,PTK2B:NM_173174:exon34:c.T2628C:p.T876T |
RS1879184 |
Diastolic blood pressure (DBP):Gene
expression of PTK2B in normal prepouch ileum:College completion |
|
8 |
27315876 |
2 |
PTK2B |
A |
G |
exonic |
synonymous SNV |
PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A |
RS1879182 |
Diastolic blood pressure (DBP):Gene
expression of PTK2B in normal prepouch ileum:College completion |
|
8 |
27667969 |
2 |
PBK |
C |
G |
exonic |
synonymous SNV |
PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A |
RS2294092 |
2 hour glucose:Triglycerides change
with statins |
|
8 |
28206275 |
2 |
ZNF395 |
G |
C |
exonic |
synonymous SNV |
ZNF395:NM_018660:exon10:c.C1503G:p.A501A |
RS1046511 |
HDL cholesterol change with
statins:Mitral annular calcium:Years of education |
|
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 |
30565624 |
2 |
GSR |
G |
A |
exonic |
nonsynonymous SNV |
GSR:NM_000637:exon4:c.C457T:p.R153C,GSR:NM_001195102:exon4:c.C457T:p.R153C,GSR:NM_001195103:exon4:c.C457T:p.R153C,GSR:NM_001195104:exon4:c.C457T:p.R153C |
|
8 |
30585092 |
2 |
GSR |
A |
G |
exonic |
synonymous SNV |
GSR:NM_000637:exon1:c.T261C:p.G87G,GSR:NM_001195102:exon1:c.T261C:p.G87G,GSR:NM_001195103:exon1:c.T261C:p.G87G,GSR:NM_001195104:exon1:c.T261C:p.G87G |
|
8 |
30585164 |
2 |
GSR |
G |
A |
exonic |
synonymous SNV |
GSR:NM_000637:exon1:c.C189T:p.A63A,GSR:NM_001195102:exon1:c.C189T:p.A63A,GSR:NM_001195103:exon1:c.C189T:p.A63A,GSR:NM_001195104:exon1:c.C189T:p.A63A |
|
8 |
30608976 |
2 |
UBXN8 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
8 |
30924557 |
2 |
WRN |
C |
T |
exonic |
synonymous SNV |
WRN:NM_000553:exon6:c.C513T:p.C171C |
RS1800389 |
Birth weight |
|
8 |
33356074 |
2 |
MAK16 |
A |
G |
exonic |
nonsynonymous SNV |
MAK16:NM_032509:exon10:c.A830G:p.Q277R |
RS6468171 |
Gallstone disease:Gene expression
of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10
[probe 235472_at] in lymphoblastoid cell lines:Differential exon level
expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential
exon level expression of FUT10 [probe 3130770] in peripheral blood
mononuclear cells:Differential exon level expression of FUT10 [probe 3130803]
in peripheral blood mononuclear cells:Differential exon level expression of
FUT10 [probe 3130777] in peripheral blood mononuclear cells:Gene expression
of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Differential
exon level expression of FUT10 [probe 3130781] in peripheral blood
mononuclear cells:Differential exon level expression of FUT10 [probe 3130806]
in brain cortex:Differential exon level expression of FUT10 [probe 3130804]
in peripheral blood mononuclear cells:Gene expression of RBM13 in peripheral
blood monocytes:Triglycerides:Gene expression of FUT10 in CD4+
lymphocytes:Gene expression of MAK16 in liver:Gene expression of FUT10 in
blood:Comorbid depressive syndrome and alcohol dependence:Advanced
age-related macular degeneration:Adiponectin levels:Infant head
circumference:Years of education:Gene expression of FUT10 in normal prepouch
ileum |
|
8 |
33369944 |
2 |
TTI2 |
T |
C |
exonic |
nonsynonymous SNV |
TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G,TTI2:NM_001330505:exon2:c.A188G:p.E63G |
RS2304748 |
Gene expression of FUT10 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe
235472_at] in lymphoblastoid cell lines:Differential exon level expression of
FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon
level expression of FUT10 [probe 3130777] in peripheral blood mononuclear
cells:Differential exon level expression of FUT10 [probe 3130806] in brain
cortex:Differential exon level expression of FUT10 [probe 3130770] in
peripheral blood mononuclear cells:Differential exon level expression of
FUT10 [probe 3130804] in peripheral blood mononuclear cells:Differential exon
level expression of FUT10 [probe 3130803] in peripheral blood mononuclear
cells:Differential exon level expression of FUT10 [probe 3130781] in
peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757]
in peripheral blood mononuclear cells:Barnes Akathisia Rating
Scale:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Asthma:Gene
expression of FUT10 [probe ILMN_18464] in osteoblasts treated with PGE2:Gene
expression of FUT10 [probe ILMN_18464] in untreated osteoblasts:Gene
expression of FUT10 in blood:Comorbid depressive syndrome and alcohol
dependence:Gene expression of FUT10 (ENSG00000172728) in dendritic cells
treated with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of
FUT10 in normal prepouch ileum |
|
8 |
33369994 |
2 |
TTI2 |
A |
G |
exonic |
synonymous SNV |
TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N,TTI2:NM_001330505:exon2:c.T138C:p.N46N |
RS3098657 |
Gene expression of FUT10 [probe
235472_at] in lymphoblastoid cell lines:Triglycerides:Comorbid depressive
syndrome and alcohol dependence:Adiponectin levels |
|
8 |
33416189 |
2 |
RNF122 |
G |
A |
exonic |
synonymous SNV |
RNF122:NM_024787:exon2:c.C126T:p.F42F |
RS3735950 |
Gene expression of FUT10 [probe
235472_at] in lymphoblastoid cell lines:Gene expression of FUT10 in normal
prepouch ileum:Infant head circumference:Salmonella-induced pyroptosis |
|
8 |
37699195 |
2 |
ADGRA2 |
C |
G |
exonic |
synonymous SNV |
ADGRA2:NM_032777:exon19:c.C3339G:p.G1113G |
|
8 |
37728017 |
2 |
RAB11FIP1 |
A |
G |
exonic |
nonsynonymous SNV |
RAB11FIP1:NM_025151:exon4:c.T1652C:p.M551T,RAB11FIP1:NM_001002814:exon5:c.T3554C:p.M1185T |
RS7817179 |
Fasting insulin:Rheumatoid arthritis |
|
8 |
37728019 |
2 |
RAB11FIP1 |
T |
G |
exonic |
synonymous SNV |
RAB11FIP1:NM_025151:exon4:c.A1650C:p.A550A,RAB11FIP1:NM_001002814:exon5:c.A3552C:p.A1184A |
RS7820872 |
Rheumatoid arthritis |
|
8 |
37730368 |
2 |
RAB11FIP1 |
G |
A |
exonic |
nonsynonymous SNV |
RAB11FIP1:NM_001002814:exon4:c.C1952T:p.A651V |
RS12541651 |
Fasting insulin:HOMA-IR:HOMA-B:Gene
expression of RAB11FIP1 [transcript NM_001002814, probe A_23_P31873] in
liver:Decrease in FEV1 (in asthmatic participants >=30 years
old):Hypertension (early onset hypertension) |
|
8 |
38095662 |
2 |
DDHD2 |
C |
T |
exonic |
nonsynonymous SNV |
DDHD2:NM_001164232:exon5:c.C557T:p.T186M,DDHD2:NM_001164234:exon5:c.C557T:p.T186M,DDHD2:NM_015214:exon5:c.C557T:p.T186M |
RS2306899 |
Methylation levels at
chr8:38360051-38360101 [hg18 coord, probe cg25510610] in Caudal
pons:Neuroblastoma (brain cancer):Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of WHSC1L1 in blood:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of BAG4
(probeID ILMN_2221014) in temporal cortex in Alzheimer's disease cases:Gene
expression of BAG4 (probeID ILMN_2221014) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of BAG4 (probeID ILMN_2221014) in
cerebellum in Alzheimer's disease cases:Gene expression of BAG4 (probeID
ILMN_2221014) in temporal cortex in Progressive Supranuclear Palsy
cases:Primary rhegmatogenous retinal detachment:Gene expression of BAG4
(probeID ILMN_2221014) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of BAG4 (probeID ILMN_2221014) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of BAG4 (probeID
ILMN_2221014) in cerebellum in non-Alzheimer's disease samples |
|
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 |
48508458 |
1 |
SPIDR |
G |
A |
exonic |
nonsynonymous SNV |
SPIDR:NM_001282916:exon8:c.G973A:p.E325K,SPIDR:NM_001080394:exon9:c.G1183A:p.E395K,SPIDR:NM_001282919:exon9:c.G1003A:p.E335K |
|
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 |
56686224 |
2 |
TGS1 |
T |
C |
exonic |
nonsynonymous SNV |
TGS1:NM_024831:exon1:c.T47C:p.I16T |
RS1818 |
Abnormal Involuntary Movement
Scale:Rheumatoid arthritis:Gene expression of LYN in blood:Gene expression of
TGS1 in blood:Aortic valve calcium |
|
8 |
59512334 |
2 |
NSMAF |
G |
A |
exonic |
synonymous SNV |
NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D |
RS2680903 |
Irritible bowel syndrome:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Gene expression of TOX [probe
204529_s_at] in prefrontal cortex:Gene expression of SDCBP///NSMAF in
blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder |
|
8 |
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 |
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 |
95186382 |
2 |
CDH17 |
G |
A |
exonic |
synonymous SNV |
CDH17:NM_001144663:exon6:c.C531T:p.V177V,CDH17:NM_004063:exon6:c.C531T:p.V177V |
RS3214050 |
Height |
|
8 |
95541371 |
2 |
VIRMA |
T |
A |
exonic |
synonymous SNV |
VIRMA:NM_015496:exon7:c.A807T:p.R269R,VIRMA:NM_183009:exon7:c.A807T:p.R269R |
RS957446 |
Obesity with early age of onset (age
>2):Refractive error |
|
8 |
95547119 |
2 |
VIRMA |
T |
G |
exonic |
synonymous SNV |
VIRMA:NM_015496:exon5:c.A432C:p.P144P,VIRMA:NM_183009:exon5:c.A432C:p.P144P |
RS2304764 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Body mass index (BMI):Obesity with early age of
onset (age >2) |
|
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 |
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 |
101225559 |
2 |
SPAG1 |
C |
G |
exonic |
synonymous SNV |
SPAG1:NM_003114:exon11:c.C1338G:p.A446A,SPAG1:NM_172218:exon11:c.C1338G:p.A446A |
|
8 |
104337096 |
1 |
FZD6 |
A |
G |
exonic |
synonymous SNV |
FZD6:NM_001164615:exon4:c.A762G:p.L254L,FZD6:NM_003506:exon4:c.A762G:p.L254L,FZD6:NM_001164616:exon5:c.A666G:p.L222L |
RS3808554 |
Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Total
cholesterol |
|
8 |
104343686 |
1 |
FZD6 |
G |
A |
exonic |
synonymous SNV |
FZD6:NM_001317796:exon6:c.G1155A:p.P385P,FZD6:NM_001164615:exon7:c.G2070A:p.P690P,FZD6:NM_003506:exon7:c.G2070A:p.P690P,FZD6:NM_001164616:exon8:c.G1974A:p.P658P |
RS1053917 |
Methylation levels at
chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons |
|
8 |
104394744 |
2 |
CTHRC1 |
T |
C |
exonic |
synonymous SNV |
CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G |
RS3098233 |
LDL cholesterol:Gene expression of
WDSOF1 [probe 3110341] in peripheral blood mononuclear cells:Premature
ovarian failure |
|
8 |
121210069 |
2 |
COL14A1 |
T |
C |
exonic |
synonymous SNV |
COL14A1:NM_021110:exon7:c.T612C:p.G204G |
RS2305598 |
LDL cholesterol:Autism with low IQ |
|
8 |
123966159 |
2 |
ZHX2 |
G |
C |
exonic |
synonymous SNV |
ZHX2:NM_014943:exon3:c.G2409C:p.A803A |
RS3802265 |
Cystatin C in serum:Triglycerides |
|
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 |
131124559 |
2 |
ASAP1 |
T |
C |
exonic |
nonsynonymous SNV |
ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V |
RS966185 |
Triglycerides:Height:Gene expression
of ASAP1 in blood |
|
8 |
135614705 |
2 |
ZFAT |
A |
G |
exonic |
synonymous SNV |
ZFAT:NM_001174157:exon5:c.T1071C:p.R357R,ZFAT:NM_001167583:exon6:c.T1221C:p.R407R,ZFAT:NM_001174158:exon6:c.T1221C:p.R407R,ZFAT:NM_020863:exon6:c.T1257C:p.R419R,ZFAT:NM_001029939:exon7:c.T1221C:p.R407R,ZFAT:NM_001289394:exon7:c.T1221C:p.R407R |
RS3739423 |
Height:Waist hip ratio:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Parkinson's
disease:Adiponectin levels |
|
8 |
141461062 |
2 |
TRAPPC9 |
G |
A |
exonic |
synonymous SNV |
TRAPPC9:NM_001160372:exon2:c.C411T:p.N137N,TRAPPC9:NM_001321646:exon2:c.C411T:p.N137N,TRAPPC9:NM_031466:exon2:c.C705T:p.N235N |
RS3735803 |
HOMA-B:Fasting blood glucose:Body
mass index (BMI):PROP taste detection threshold:Acute lung injury following
major trauma |
|
8 |
141461185 |
2 |
TRAPPC9 |
A |
G |
exonic |
synonymous SNV |
TRAPPC9:NM_001160372:exon2:c.T288C:p.F96F,TRAPPC9:NM_001321646:exon2:c.T288C:p.F96F,TRAPPC9:NM_031466:exon2:c.T582C:p.F194F |
RS3735802 |
HOMA-B:Fasting blood glucose |
|
8 |
141461266 |
2 |
TRAPPC9 |
A |
G |
exonic |
synonymous SNV |
TRAPPC9:NM_001160372:exon2:c.T207C:p.G69G,TRAPPC9:NM_001321646:exon2:c.T207C:p.G69G,TRAPPC9:NM_031466:exon2:c.T501C:p.G167G |
|
8 |
143746069 |
2 |
JRK |
T |
C |
exonic |
synonymous SNV |
JRK:NM_001077527:exon3:c.A1407G:p.P469P,JRK:NM_001279352:exon3:c.A1407G:p.P469P,JRK:NM_003724:exon3:c.A1407G:p.P469P |
RS3735999 |
2 hour glucose:Mitral annular
calcium:Years of education |
|
8 |
143746416 |
2 |
JRK |
A |
G |
exonic |
synonymous SNV |
JRK:NM_001077527:exon2:c.T1062C:p.H354H,JRK:NM_001279352:exon2:c.T1062C:p.H354H,JRK:NM_003724:exon2:c.T1062C:p.H354H |
|
8 |
143746701 |
2 |
JRK |
A |
G |
exonic |
synonymous SNV |
JRK:NM_001077527:exon2:c.T777C:p.N259N,JRK:NM_001279352:exon2:c.T777C:p.N259N,JRK:NM_003724:exon2:c.T777C:p.N259N |
RS3802232 |
Hip bone mineral density
(BMD):Irritible bowel syndrome:Arthritis including
non-Rheumatoid:Schizophrenia:2 hour glucose:Gene expression of JRK [probeset
216309_x_at] in sputum:Mitral annular calcium:Years of education |
|
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 |
144358381 |
2 |
GLI4 |
G |
A |
exonic |
nonsynonymous SNV |
GLI4:NM_138465:exon4:c.G538A:p.A180T |
RS1056148 |
HDL cholesterol:Gene expression of
TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum
in Alzheimer's disease cases and controls:Adiponectin levels |
|
8 |
144378184 |
2 |
ZNF696 |
C |
G |
exonic |
synonymous SNV |
ZNF696:NM_030895:exon3:c.C339G:p.G113G |
|
8 |
144378868 |
2 |
ZNF696 |
A |
G |
exonic |
synonymous SNV |
ZNF696:NM_030895:exon3:c.A1023G:p.R341R |
|
8 |
144392368 |
2 |
TOP1MT |
G |
A |
exonic |
nonsynonymous SNV |
TOP1MT:NM_001258447:exon13:c.C1279T:p.R427W,TOP1MT:NM_052963:exon13:c.C1573T:p.R525W,TOP1MT:NM_001258446:exon14:c.C1279T:p.R427W |
RS2293925 |
Adiponectin levels:Gene expression
of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in
cerebellum in Alzheimer's disease cases and controls |
|
8 |
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 |
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 |
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 |
144811338 |
2 |
FAM83H |
C |
G |
exonic |
nonsynonymous SNV |
FAM83H:NM_198488:exon3:c.G603C:p.Q201H |
|
8 |
144874554 |
2 |
SCRIB |
T |
C |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon32:c.A4350G:p.P1450P,SCRIB:NM_182706:exon32:c.A4350G:p.P1450P |
|
8 |
144885580 |
2 |
SCRIB |
A |
G |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F |
|
8 |
144889172 |
2 |
SCRIB |
A |
G |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T |
RS10866915 |
Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Salmonella-induced pyroptosis |
|
8 |
144890873 |
2 |
SCRIB |
A |
T |
exonic |
nonsynonymous SNV |
SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E |
|
8 |
144894496 |
2 |
SCRIB |
G |
A |
exonic |
synonymous SNV |
SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T |
RS4875060 |
Hip bone mineral density
(BMD):Irritible bowel syndrome:Premature ovarian failure:Gene expression of
ZNF707 [probe ILMN_20149] in osteoblasts treated with pge-2:Hypertension
(early onset hypertension):Salmonella-induced pyroptosis |
|
8 |
144940300 |
1 |
EPPK1 |
G |
A |
exonic |
synonymous SNV |
EPPK1:NM_031308:exon2:c.C7122T:p.R2374R |
|
8 |
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 |
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 |
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 |
145756170 |
2 |
ARHGAP39 |
G |
A |
exonic |
synonymous SNV |
ARHGAP39:NM_001308208:exon10:c.C2973T:p.D991D,ARHGAP39:NM_025251:exon10:c.C3066T:p.D1022D,ARHGAP39:NM_001308207:exon11:c.C2973T:p.D991D |
|
8 |
146033347 |
2 |
ZNF517 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF517:NM_001317936:exon5:c.T1025C:p.V342A,ZNF517:NM_213605:exon5:c.T1046C:p.V349A |
|
8 |
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 |
2 |
|
9 |
17011 |
2 |
WASHC1 |
T |
C |
exonic |
synonymous SNV |
WASHC1:NM_182905:exon7:c.A837G:p.P279P |
|
9 |
17107 |
2 |
WASHC1 |
T |
C |
exonic |
synonymous SNV |
WASHC1:NM_182905:exon7:c.A741G:p.P247P |
|
9 |
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 |
2811505 |
2 |
PUM3 |
G |
A |
exonic |
synonymous SNV |
PUM3:NM_014878:exon15:c.C1491T:p.H497H |
RS2270888 |
HDL cholesterol:Total cholesterol |
|
9 |
4118111 |
2 |
GLIS3 |
G |
T |
exonic |
nonsynonymous SNV |
GLIS3:NM_152629:exon3:c.C902A:p.P301Q,GLIS3:NM_001042413:exon4:c.C1367A:p.P456Q |
RS6415788 |
Schizophrenia:Total cholesterol:LDL
cholesterol:LDL cholesterol:Total cholesterol:Body mass index (BMI):Infant
head circumference |
|
9 |
4118208 |
2 |
GLIS3 |
A |
G |
exonic |
nonsynonymous SNV |
GLIS3:NM_152629:exon3:c.T805C:p.S269P,GLIS3:NM_001042413:exon4:c.T1270C:p.S424P |
|
9 |
4576680 |
2 |
SLC1A1 |
T |
C |
exonic |
synonymous SNV |
SLC1A1:NM_004170:exon10:c.T1110C:p.T370T |
RS301430 |
Age at death with kuru
exposure:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
9 |
5968416 |
2 |
KIAA2026 |
A |
G |
exonic |
synonymous SNV |
KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L |
RS3739649 |
Height:Birth weight |
|
9 |
12775889 |
2 |
LURAP1L |
A |
G |
exonic |
nonsynonymous SNV |
LURAP1L:NM_203403:exon1:c.A175G:p.S59G |
|
9 |
13150531 |
2 |
MPDZ |
T |
C |
exonic |
synonymous SNV |
MPDZ:NM_001261406:exon25:c.A3609G:p.K1203K,MPDZ:NM_001261407:exon25:c.A3609G:p.K1203K,MPDZ:NM_001330637:exon25:c.A3609G:p.K1203K,MPDZ:NM_003829:exon25:c.A3609G:p.K1203K |
RS10756457 |
Birth weight |
|
9 |
13176312 |
2 |
MPDZ |
C |
T |
exonic |
synonymous SNV |
MPDZ:NM_001261406:exon20:c.G2754A:p.S918S,MPDZ:NM_001261407:exon20:c.G2754A:p.S918S,MPDZ:NM_001330637:exon20:c.G2754A:p.S918S,MPDZ:NM_003829:exon20:c.G2754A:p.S918S |
RS2274856 |
Major depressive disorder (narrow
definition) (males):Major depressive disorder (narrow definition):HDL
cholesterol:LDL cholesterol:Bipolar disorder:Infant head circumference:Birth
weight |
|
9 |
15188106 |
2 |
TTC39B |
T |
C |
exonic |
nonsynonymous SNV |
TTC39B:NM_001168341:exon12:c.A1051G:p.I351V,TTC39B:NM_001168342:exon12:c.A763G:p.I255V,TTC39B:NM_001168340:exon13:c.A1219G:p.I407V,TTC39B:NM_001168339:exon14:c.A1252G:p.I418V,TTC39B:NM_152574:exon14:c.A1258G:p.I420V |
RS1407977 |
Schizophrenia:HDL cholesterol:Age at
death with kuru exposure:Tetrology of fallot |
|
9 |
17342383 |
2 |
CNTLN |
C |
T |
exonic |
synonymous SNV |
CNTLN:NM_017738:exon12:c.C1827T:p.D609D |
|
9 |
19063108 |
2 |
HAUS6 |
T |
C |
exonic |
synonymous SNV |
HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L |
|
9 |
19076673 |
2 |
HAUS6 |
G |
C |
exonic |
synonymous SNV |
HAUS6:NM_001270890:exon11:c.C1116G:p.P372P,HAUS6:NM_017645:exon11:c.C1221G:p.P407P |
|
9 |
20866974 |
2 |
FOCAD |
C |
G |
exonic |
nonsynonymous SNV |
FOCAD:NM_017794:exon20:c.C2153G:p.T718S |
|
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 |
33941759 |
2 |
UBAP2 |
T |
C |
exonic |
nonsynonymous SNV |
UBAP2:NM_001282529:exon12:c.A1016G:p.N339S,UBAP2:NM_018449:exon16:c.A1817G:p.N606S |
RS307658 |
2 hour
glucose:HOMA-B:HOMA-IR:Fasting insulin:Serum creatinine:Height:Urinary
albumin-to-creatinine ratio:Advanced age-related macular
degeneration:Hypertension (early onset hypertension):Infant head
circumference:Parkinson's disease:Aortic valve calcium:Obesity with early age
of onset (age >2) |
|
9 |
34372783 |
2 |
KIAA1161 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
9 |
34372873 |
2 |
KIAA1161 |
C |
G |
exonic |
unknown |
UNKNOWN |
|
9 |
34372931 |
2 |
KIAA1161 |
T |
A |
exonic |
unknown |
UNKNOWN |
RS2297776 |
Urinary albumin-to-creatinine
ratio:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Parkinson's disease |
|
9 |
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 |
35660990 |
2 |
CCDC107 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V |
RS1339374 |
Schizophrenia:Autism:Gene
expression of CA9 [probe ILMN_26612] in osteoblasts with treatment
interaction:Gene expression of TPM2 in blood:Gene expression of CA9///TPM2 in
blood:Bipolar disorder:Gene expression change of MSMP (ENSG00000215183) in
dendritic cells after treatment with Mycobacterium tuberculosis:College
completion:Gene expression of MSMP (ENSG00000215183) in dendritic cells
treated with Mycobacterium tuberculosis |
|
9 |
35674053 |
2 |
CA9 |
G |
A |
exonic |
nonsynonymous SNV |
CA9:NM_001216:exon1:c.G97A:p.V33M |
RS2071676 |
HOMA-B |
|
9 |
35704150 |
2 |
TLN1 |
C |
T |
exonic |
synonymous SNV |
TLN1:NM_006289:exon46:c.G6069A:p.A2023A |
RS10814270 |
LDL cholesterol:Height |
|
9 |
37429814 |
2 |
GRHPR |
A |
G |
exonic |
synonymous SNV |
GRHPR:NM_012203:exon6:c.A579G:p.A193A |
RS309458 |
LDL cholesterol |
|
9 |
37441808 |
2 |
ZBTB5 |
A |
G |
exonic |
synonymous SNV |
ZBTB5:NM_014872:exon2:c.T741C:p.D247D |
|
9 |
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 |
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 |
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 |
71862975 |
2 |
TJP2 |
C |
T |
exonic |
synonymous SNV |
TJP2:NM_001170415:exon19:c.C2727T:p.T909T,TJP2:NM_001170416:exon19:c.C2808T:p.T936T,TJP2:NM_004817:exon19:c.C2715T:p.T905T,TJP2:NM_201629:exon19:c.C2715T:p.T905T,TJP2:NM_001170414:exon20:c.C2646T:p.T882T |
RS2282336 |
Gene expression of PELI3 in
peripheral blood monocytes:Salmonella-induced pyroptosis |
|
9 |
71862987 |
2 |
TJP2 |
G |
A |
exonic |
synonymous SNV |
TJP2:NM_001170415:exon19:c.G2739A:p.A913A,TJP2:NM_001170416:exon19:c.G2820A:p.A940A,TJP2:NM_004817:exon19:c.G2727A:p.A909A,TJP2:NM_201629:exon19:c.G2727A:p.A909A,TJP2:NM_001170414:exon20:c.G2658A:p.A886A |
RS2095876 |
Simpson-Angus Scale:HOMA-IR:Fasting
insulin:Gene expression of PELI3 in peripheral blood
monocytes:Salmonella-induced pyroptosis |
|
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 |
77563087 |
2 |
C9orf40 |
C |
T |
exonic |
synonymous SNV |
C9orf40:NM_017998:exon2:c.G462A:p.Q154Q |
RS2769058 |
Gene expression of C9orf40 [probe
ILMN_30048] in osteoblasts:Rheumatoid arthritis:Body mass index (BMI):Gene
expression of C9orf40 [probe ILMN_30048] in osteoblasts treated with
BMP2:Gene expression of C9orf40 [probe ILMN_30048] in osteoblasts treated with
PGE2:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD:Tetrology of fallot:Birth weight |
|
9 |
77684690 |
2 |
NMRK1 |
A |
C |
exonic |
synonymous SNV |
NMRK1:NM_017881:exon6:c.T357G:p.T119T,NMRK1:NM_001330678:exon7:c.T369G:p.T123T,NMRK1:NM_001330679:exon7:c.T369G:p.T123T |
RS3752955 |
Gene expression of C9orf95 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C9orf95 [probe
219147_s_at] in lymphoblastoid cell lines:Gene expression of NRK1_HUMAN in
blood cells in Celiac disease:Differential exon level expression of C9orf95 [probe
3210191] in peripheral blood mononuclear cells:Gene expression of C9orf95
[probe 3210179] in peripheral blood mononuclear cells:Gene expression of
C9orf95 [probe 3210179] in brain cortex:Differential exon level expression of
C9orf95 [probeset 3210195] in peripheral blood mononuclear cells:Differential
exon level expression of C9orf95 [probeset 3210195] in brain cortex:Gene
expression of C9orf95 in T cells:Gene expression of C9orf95 in Frontal
cortex:Gene expression of C9orf95 in Temporal cortex:Gene expression of
C9orf95 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Gene
expression of C9orf95 in blood:Chronic obstructive pulmonary disease
(COPD):Gene expression of C9orf95 [probeset 219147_s_at] in sputum:Comorbid
depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob
disease:College completion:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Gene expression of C9orf95 (probeID
ILMN_1674650) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of C9orf95 (probeID ILMN_1674650) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C9orf95 (probeID ILMN_1674650)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of C9orf95 (probeID ILMN_1674650) in cerebellum in non-Alzheimer's disease
samples:Gene expression of C9orf95 (probeID ILMN_1674650) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of C9orf95 (probeID
ILMN_1674650) in cerebellum in Alzheimer's disease cases:Gene expression of
C9orf95 (probeID ILMN_1674650) in temporal cortex in Alzheimer's disease
cases:Gene expression of C9orf95 (ENSG00000106733) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression of C9orf95 in normal prepouch
ileum:Advanced age-related macular degeneration (geographic atrophy):Birth
weight |
|
9 |
78773953 |
2 |
PCSK5 |
G |
A |
exonic |
synonymous SNV |
PCSK5:NM_001190482:exon12:c.G1485A:p.S495S,PCSK5:NM_006200:exon12:c.G1485A:p.S495S |
RS2297342 |
LDL cholesterol:PROP taste detection
threshold |
|
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 |
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 |
86498754 |
1 |
KIF27 |
T |
C |
exonic |
nonsynonymous SNV |
KIF27:NM_001271927:exon10:c.A2419G:p.M807V,KIF27:NM_001271928:exon10:c.A2419G:p.M807V,KIF27:NM_017576:exon10:c.A2419G:p.M807V |
|
9 |
86617265 |
2 |
RMI1 |
A |
G |
exonic |
nonsynonymous SNV |
RMI1:NM_024945:exon3:c.A1364G:p.N455S |
RS1982151 |
Hip bone mineral density
(BMD):Simpson-Angus Scale:HDL cholesterol:Triglycerides:Height:Waist hip
ratio:Gene expression of RMI1 in blood:Gene expression of HNRNPK///hsa-mir-7
in blood:Sporadic Creutzfeldt-Jakob disease:Birth weight:Primary
rhegmatogenous retinal detachment |
|
9 |
88356743 |
2 |
AGTPBP1 |
A |
G |
exonic |
synonymous SNV |
AGTPBP1:NM_001286715:exon1:c.T135C:p.A45A,AGTPBP1:NM_001286717:exon1:c.T135C:p.A45A |
|
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 |
96051521 |
2 |
WNK2 |
A |
G |
exonic |
synonymous SNV |
WNK2:NM_006648:exon19:c.A4485G:p.Q1495Q,WNK2:NM_001282394:exon20:c.A4596G:p.Q1532Q |
|
9 |
100672338 |
2 |
TRMO |
C |
T |
exonic |
nonsynonymous SNV |
TRMO:NM_016481:exon4:c.G970A:p.V324M,TRMO:NM_001330725:exon5:c.G532A:p.V178M |
RS2282192 |
Gene expression of Hs.43687 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol change
with statins:Gene expression of C9orf156 in Temporal cortex:Gene expression
of C9orf156 in Frontal cortex:Gene expression of C9orf156 in Cerebellum:Gene
expression of C9orf156 in Caudal pons:Autism with high
IQ:Triglycerides:Height:Diastolic blood pressure (DBP):Gene expression of
C9orf156 (probeID ILMN_1700028) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of C9orf156 (probeID ILMN_1700028) in temporal
cortex in Alzheimer's disease cases and controls:Obesity with early age of
onset (age >2) |
|
9 |
107515214 |
2 |
NIPSNAP3A |
G |
A |
exonic |
nonsynonymous SNV |
NIPSNAP3A:NM_001329570:exon3:c.G299A:p.R100Q,NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q |
RS2274870 |
LDL cholesterol:HDL cholesterol |
|
9 |
112899361 |
2 |
AKAP2;PALM2-AKAP2 |
A |
C |
exonic |
nonsynonymous SNV |
AKAP2:NM_001004065:exon2:c.A1111C:p.K371Q,AKAP2:NM_001136562:exon2:c.A844C:p.K282Q,AKAP2:NM_001198656:exon2:c.A1111C:p.K371Q,PALM2-AKAP2:NM_007203:exon8:c.A1537C:p.K513Q,PALM2-AKAP2:NM_147150:exon8:c.A1537C:p.K513Q |
|
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 |
115567184 |
2 |
SNX30 |
T |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon2:c.T285C:p.V95V |
RS1891402 |
Body mass index (BMI):Obesity (body
mass index (BMI)):Parkinson's disease |
|
9 |
115600848 |
2 |
SNX30 |
T |
C |
exonic |
synonymous SNV |
SNX30:NM_001012994:exon6:c.T885C:p.A295A |
|
9 |
115925104 |
2 |
SLC31A2 |
C |
T |
exonic |
synonymous SNV |
SLC31A2:NM_001860:exon4:c.C339T:p.A113A |
RS3810906 |
Triglycerides:Serum
creatinine:Waist hip ratio:Obesity with early age of onset (age >2):Gene
expression of SLC31A1 (ENSG00000136868) in dendritic cells |
|
9 |
115950156 |
2 |
FKBP15 |
G |
A |
exonic |
nonsynonymous SNV |
FKBP15:NM_015258:exon14:c.C1300T:p.L434F |
RS10465129 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Total cholesterol:Serum
creatinine:Bipolar disorder |
|
9 |
115950706 |
2 |
FKBP15 |
A |
C |
exonic |
nonsynonymous SNV |
FKBP15:NM_015258:exon13:c.T1239G:p.H413Q |
RS10435864 |
Triglycerides:HDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of FKBP15
[probeset 242574_at] in sputum:Age at death with kuru exposure |
|
9 |
116931099 |
2 |
COL27A1 |
G |
A |
exonic |
nonsynonymous SNV |
COL27A1:NM_032888:exon3:c.G1264A:p.A422T |
RS2241671 |
Tardive dyskinesia:LDL
cholesterol:Rheumatoid arthritis:Height:Body mass index (BMI):Primary
rhegmatogenous retinal detachment:Parkinson's disease |
|
9 |
117166246 |
2 |
WHRN |
A |
G |
exonic |
nonsynonymous SNV |
WHRN:NM_001346890:exon6:c.T1295C:p.V432A,WHRN:NM_001083885:exon10:c.T1199C:p.V400A,WHRN:NM_001173425:exon10:c.T2345C:p.V782A,WHRN:NM_015404:exon10:c.T2348C:p.V783A |
RS2274159 |
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:LDL cholesterol:Chemosensitivity to targeted regimes in
metastatic colorectal cancer (Cetuximab regimen - objective
response):Chemosensitivity to targeted regimes in metastatic colorectal
cancer (Cetuximab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to targeted
regimes in metastatic colorectal cancer (Cetuximab regimen):Gene expression
of ORM2 in blood:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Primary rhegmatogenous retinal detachment:Advanced age-related macular
degeneration |
|
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 |
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 |
127661645 |
2 |
GOLGA1 |
G |
A |
exonic |
nonsynonymous SNV |
GOLGA1:NM_002077:exon14:c.C1274T:p.T425M |
RS634710 |
Triglycerides:Schizophrenia:2 hour
glucose:Serum creatinine:Gene expression of RABEPK in peripheral blood
monocytes:Infant head circumference |
|
9 |
127674200 |
2 |
GOLGA1 |
A |
C |
exonic |
nonsynonymous SNV |
GOLGA1:NM_002077:exon11:c.T949G:p.L317V |
|
9 |
127818276 |
2 |
SCAI |
C |
T |
exonic |
nonsynonymous SNV |
SCAI:NM_001144877:exon3:c.G109A:p.A37T,SCAI:NM_173690:exon4:c.G178A:p.A60T |
RS589292 |
Gene expression of PPP6C [probe
225429_at] in lymphoblastoid cell lines:Gene expression of GAPVD1 in T
cells:HDL cholesterol:Serum creatinine:Gene expression of HSPA5///RABEPK in
blood:PROP taste detection threshold |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
132623293 |
2 |
USP20 |
C |
T |
exonic |
synonymous SNV |
USP20:NM_001008563:exon7:c.C408T:p.D136D,USP20:NM_001110303:exon7:c.C408T:p.D136D,USP20:NM_006676:exon7:c.C408T:p.D136D |
RS1503375 |
Bipolar disorder:College completion |
|
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 |
134136515 |
2 |
FAM78A |
A |
G |
exonic |
synonymous SNV |
FAM78A:NM_033387:exon2:c.T546C:p.N182N |
|
9 |
134346315 |
2 |
PRRC2B |
T |
C |
exonic |
synonymous SNV |
PRRC2B:NM_013318:exon13:c.T2052C:p.R684R |
RS4310250 |
HDL cholesterol:LDL cholesterol:HDL
cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's
disease cases and controls |
|
9 |
134350323 |
2 |
PRRC2B |
C |
G |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.C2807G:p.T936S |
|
9 |
134350458 |
2 |
PRRC2B |
C |
T |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.C2942T:p.P981L |
RS10751478 |
Body mass index (BMI) |
|
9 |
134350647 |
2 |
PRRC2B |
T |
C |
exonic |
nonsynonymous SNV |
PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T |
|
9 |
134351065 |
2 |
PRRC2B |
G |
T |
exonic |
synonymous SNV |
PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G |
RS7858488 |
HDL cholesterol:LDL
cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID
ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's
disease cases and controls |
|
9 |
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 |
135139901 |
2 |
SETX |
T |
C |
exonic |
nonsynonymous SNV |
SETX:NM_001351527:exon26:c.A7759G:p.I2587V,SETX:NM_015046:exon26:c.A7759G:p.I2587V,SETX:NM_001351528:exon27:c.A7846G:p.I2616V |
RS1056899 |
Irritible bowel
syndrome:Longstanding arthritis:Triglycerides:Schizophrenia:Chronic kidney
disease:Serum creatinine:Triglycerides:Sporadic Creutzfeldt-Jakob
disease:Maternal transmission distortion:Transmission distortion |
|
9 |
135172412 |
2 |
SETX |
A |
G |
exonic |
synonymous SNV |
SETX:NM_001351527:exon14:c.T5811C:p.D1937D,SETX:NM_001351528:exon14:c.T5811C:p.D1937D,SETX:NM_015046:exon14:c.T5811C:p.D1937D |
RS2296869 |
Irritible bowel
syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Paternal
transmission distortion:Advanced age-related macular degeneration |
|
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 |
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 |
136199466 |
2 |
SURF6 |
G |
A |
exonic |
nonsynonymous SNV |
SURF6:NM_001278942:exon4:c.C523T:p.R175W,SURF6:NM_006753:exon4:c.C524T:p.T175M |
RS886089 |
Parkinson's disease (PD):Gene
expression of SURF1 in CHB lymphoblastoid cell lines |
|
9 |
136199503 |
2 |
SURF6 |
G |
A |
exonic |
nonsynonymous SNV |
SURF6:NM_006753:exon4:c.C487T:p.R163W |
RS886090 |
Parkinson's disease (PD):Gene
expression of SURF1 in CHB lymphoblastoid cell lines:Gene expression of
Hs.495422 in CEU lymphoblastoid cell lines:Gene expression of SURF6 in
liver:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour
glucose:Gene expression of SURF6 in Caudal pons:Gene expression of SURF6 in
Cerebellum:Gene expression of SURF1 in Caudal pons:Gene expression of SURF6
in Frontal cortex:Triglycerides:HDL cholesterol:Gene expression of SURF6 in
CD4+ lymphocytes:Gene expression of SURF6 [probe ILMN_29359] in untreated
osteoblasts:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts
treated with BMP2:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts
treated with dexamethasone:Gene expression of SURF6 [probe ILMN_29359] in
osteoblasts treated with PGE2:Gene expression of SURF1 in blood:Gene
expression of [probe 4860689 centered at chr9:135198369] in blood:Gene
expression of SURF6 in blood:Gene expression of MED22 in blood:Gene
expression of SURF1 in normal prepouch ileum:Obesity with early age of onset
(age >2):Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of SURF6 in normal
prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in temporal
cortex in Alzheimer's disease cases and controls |
|
9 |
136328657 |
2 |
CACFD1 |
T |
C |
exonic |
synonymous SNV |
CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I |
RS3124765 |
Alkaline phosphatase
(ALP):Childhood acute lymphoblastic leukemia:Lp-PLA2 activity:Lp-PLA2
mass:Gene expression of SURF6 in peripheral blood monocytes:Gene expression
of MED22 in peripheral blood monocytes:Gene expression of SURF1 in peripheral
blood monocytes:Total cholesterol:LDL cholesterol:Height:Coronary artery
disease (CAD):Activated partial thromboplastin time:Venous
thromboembolism:Mitral annular calcium |
|
9 |
136536793 |
2 |
SARDH |
C |
G |
exonic |
synonymous SNV |
SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V |
RS2519123 |
LDL cholesterol change with
statins:HDL cholesterol change with statins:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
9 |
138379002 |
2 |
PPP1R26 |
T |
G |
exonic |
synonymous SNV |
PPP1R26:NM_014811:exon4:c.T2646G:p.P882P |
|
9 |
138838140 |
2 |
UBAC1 |
T |
C |
exonic |
synonymous SNV |
UBAC1:NM_016172:exon5:c.A519G:p.A173A |
|
9 |
139391636 |
2 |
NOTCH1 |
G |
A |
exonic |
synonymous SNV |
NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D |
RS2229974 |
Height |
|
9 |
139418260 |
2 |
NOTCH1 |
A |
G |
exonic |
synonymous SNV |
NOTCH1:NM_017617:exon3:c.T312C:p.N104N |
RS4489420 |
HDL cholesterol:Total cholesterol
change with statins |
|
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 |
139726239 |
2 |
RABL6 |
A |
G |
exonic |
synonymous SNV |
RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G |
|
9 |
139912484 |
2 |
ABCA2 |
A |
G |
exonic |
synonymous SNV |
ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D |
|
9 |
139913239 |
2 |
ABCA2 |
T |
G |
exonic |
nonsynonymous SNV |
ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P |
|
9 |
139981627 |
2 |
MAN1B1 |
A |
G |
exonic |
nonsynonymous SNV |
MAN1B1:NM_016219:exon1:c.A176G:p.N59S |
|
9 |
140247143 |
2 |
EXD3 |
T |
G |
exonic |
nonsynonymous SNV |
EXD3:NM_017820:exon11:c.A966C:p.E322D |
|
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 |
429977 |
2 |
DIP2C |
G |
A |
exonic |
synonymous SNV |
DIP2C:NM_014974:exon16:c.C1866T:p.G622G |
RS10904083 |
HDL cholesterol:Sporadic
Creutzfeldt-Jakob disease |
|
10 |
459940 |
2 |
DIP2C |
G |
A |
exonic |
synonymous SNV |
DIP2C:NM_014974:exon8:c.C970T:p.L324L |
|
10 |
1046712 |
2 |
GTPBP4 |
G |
A |
exonic |
synonymous SNV |
GTPBP4:NM_012341:exon7:c.G750A:p.A250A |
RS2306409 |
Gene expression of IDI2 [probe
228002_at] in lymphoblastoid cell lines:Total cholesterol change with
statins:Gene expression of IDI2 [transcript NM_033261, probe A_32_P115947] in
liver:Gene expression of GTPBP4 in blood |
|
10 |
5136651 |
2 |
AKR1C3 |
C |
G |
exonic |
nonsynonymous SNV |
AKR1C3:NM_001253909:exon1:c.C15G:p.H5Q,AKR1C3:NM_003739:exon1:c.C15G:p.H5Q |
RS12529 |
Simpson-Angus Scale:2 hour
glucose:LDL cholesterol change with statins:Total cholesterol change with
statins:Triglycerides:Years of education:College completion |
|
10 |
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 |
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 |
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 |
11789382 |
2 |
ECHDC3 |
G |
A |
exonic |
nonsynonymous SNV |
ECHDC3:NM_024693:exon2:c.G205A:p.A69T |
|
10 |
11789405 |
2 |
ECHDC3 |
G |
A |
exonic |
synonymous SNV |
ECHDC3:NM_024693:exon2:c.G228A:p.K76K |
|
10 |
11797436 |
2 |
ECHDC3 |
T |
C |
exonic |
synonymous SNV |
ECHDC3:NM_024693:exon4:c.T420C:p.V140V |
|
10 |
11797467 |
2 |
ECHDC3 |
G |
A |
exonic |
nonsynonymous SNV |
ECHDC3:NM_024693:exon4:c.G451A:p.A151T |
|
10 |
12111090 |
2 |
DHTKD1 |
T |
C |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon1:c.T58C:p.F20L |
|
10 |
12148259 |
2 |
DHTKD1 |
A |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.A1911C:p.P637P |
|
10 |
12148286 |
2 |
DHTKD1 |
T |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.T1938C:p.F646F |
|
10 |
12149939 |
2 |
DHTKD1 |
C |
T |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon12:c.C2079T:p.I693I |
RS1722462 |
LDL cholesterol:Total
cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education |
|
10 |
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 |
13494594 |
2 |
BEND7 |
T |
C |
exonic |
synonymous SNV |
BEND7:NM_001100912:exon6:c.A1011G:p.V337V,BEND7:NM_152751:exon7:c.A972G:p.V324V |
RS2277222 |
HDL
cholesterol:Triglycerides:Diastolic blood pressure (DBP):Salmonella-induced
pyroptosis:Hypertension (early onset hypertension):Tuberculosis with early
age of onset |
|
10 |
16547058 |
2 |
PTER |
A |
G |
exonic |
synonymous SNV |
PTER:NM_001261838:exon3:c.A291G:p.Q97Q,PTER:NM_001261836:exon4:c.A738G:p.Q246Q,PTER:NM_001001484:exon5:c.A738G:p.Q246Q,PTER:NM_030664:exon5:c.A738G:p.Q246Q |
RS7904014 |
HDL cholesterol:Childhood acute
lymphoblastic leukemia:Waist hip ratio:Diastolic blood pressure (DBP):Gene
expression of PTER in normal prepouch ileum |
|
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 |
18342034 |
2 |
|
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 |
27389197 |
2 |
ANKRD26 |
T |
C |
exonic |
nonsynonymous SNV |
ANKRD26:NM_001256053:exon1:c.A59G:p.Q20R,ANKRD26:NM_014915:exon1:c.A59G:p.Q20R |
|
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 |
33510663 |
1 |
NRP1 |
G |
A |
exonic |
synonymous SNV |
NRP1:NM_001024628:exon8:c.C1266T:p.Y422Y,NRP1:NM_001024629:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244972:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244973:exon8:c.C1266T:p.Y422Y,NRP1:NM_001330068:exon8:c.C1266T:p.Y422Y,NRP1:NM_003873:exon8:c.C1266T:p.Y422Y |
RS2229935 |
Body mass index (BMI):Diastolic
blood pressure (DBP):Birth weight:Adiponectin levels:Coronary artery disease
(CAD) |
|
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 |
43281089 |
2 |
BMS1 |
T |
C |
exonic |
synonymous SNV |
BMS1:NM_014753:exon3:c.T336C:p.T112T |
|
10 |
43312807 |
1 |
BMS1 |
C |
T |
exonic |
synonymous SNV |
BMS1:NM_014753:exon15:c.C2445T:p.P815P |
|
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 |
43326535 |
1 |
BMS1 |
A |
G |
exonic |
synonymous SNV |
BMS1:NM_014753:exon23:c.A3840G:p.Q1280Q |
|
10 |
43326538 |
1 |
BMS1 |
G |
T |
exonic |
nonsynonymous SNV |
BMS1:NM_014753:exon23:c.G3843T:p.L1281F |
|
10 |
46962063 |
1 |
SYT15 |
G |
A |
exonic |
synonymous SNV |
SYT15:NM_031912:exon8:c.C1173T:p.R391R |
|
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 |
51362945 |
1 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.A803G:p.H268R,PARG:NM_001303486:exon3:c.A881G:p.H294R,PARG:NM_001324381:exon3:c.A881G:p.H294R,PARG:NM_003631:exon3:c.A1127G:p.H376R |
|
10 |
51363013 |
2 |
PARG |
G |
A |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.C735T:p.F245F,PARG:NM_001303486:exon3:c.C813T:p.F271F,PARG:NM_001324381:exon3:c.C813T:p.F271F,PARG:NM_003631:exon3:c.C1059T:p.F353F |
|
10 |
51363227 |
2 |
PARG |
A |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.T521C:p.I174T,PARG:NM_001303486:exon3:c.T599C:p.I200T,PARG:NM_001324381:exon3:c.T599C:p.I200T,PARG:NM_003631:exon3:c.T845C:p.I282T |
|
10 |
51363294 |
2 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E |
|
10 |
51363304 |
2 |
PARG |
G |
A |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.C444T:p.D148D,PARG:NM_001303486:exon3:c.C522T:p.D174D,PARG:NM_001324381:exon3:c.C522T:p.D174D,PARG:NM_003631:exon3:c.C768T:p.D256D |
|
10 |
51363348 |
2 |
PARG |
G |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.C400G:p.H134D,PARG:NM_001303486:exon3:c.C478G:p.H160D,PARG:NM_001324381:exon3:c.C478G:p.H160D,PARG:NM_003631:exon3:c.C724G:p.H242D |
|
10 |
51363391 |
1 |
PARG |
G |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.C357G:p.H119Q,PARG:NM_001303486:exon3:c.C435G:p.H145Q,PARG:NM_001324381:exon3:c.C435G:p.H145Q,PARG:NM_003631:exon3:c.C681G:p.H227Q |
|
10 |
51363403 |
1 |
PARG |
C |
T |
exonic |
synonymous SNV |
PARG:NM_001303487:exon2:c.G345A:p.T115T,PARG:NM_001303486:exon3:c.G423A:p.T141T,PARG:NM_001324381:exon3:c.G423A:p.T141T,PARG:NM_003631:exon3:c.G669A:p.T223T |
|
10 |
51363729 |
1 |
PARG |
C |
T |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.G19A:p.E7K,PARG:NM_001303486:exon3:c.G97A:p.E33K,PARG:NM_001324381:exon3:c.G97A:p.E33K,PARG:NM_003631:exon3:c.G343A:p.E115K |
|
10 |
51363758 |
1 |
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 |
51370975 |
2 |
PARG |
C |
G |
exonic |
nonsynonymous SNV |
PARG:NM_001303489:exon1:c.G92C:p.R31P |
|
10 |
51612975 |
1 |
TIMM23 |
A |
C |
exonic |
synonymous SNV |
TIMM23:NM_006327:exon4:c.T273G:p.G91G |
|
10 |
51613231 |
1 |
TIMM23 |
T |
C |
exonic |
synonymous SNV |
TIMM23:NM_006327:exon3:c.A246G:p.G82G |
|
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 |
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 |
63995983 |
2 |
RTKN2 |
C |
T |
exonic |
synonymous SNV |
RTKN2:NM_145307:exon6:c.G528A:p.V176V |
RS3852448 |
LDL cholesterol |
|
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 |
69773841 |
2 |
HERC4 |
G |
A |
exonic |
synonymous SNV |
HERC4:NM_001278186:exon7:c.C246T:p.S82S,HERC4:NM_001278185:exon9:c.C1011T:p.S337S,HERC4:NM_015601:exon9:c.C1011T:p.S337S,HERC4:NM_022079:exon9:c.C1011T:p.S337S |
RS866255 |
HOMA-B:HOMA-IR:Fasting
insulin:Celiac disease:Body mass index (BMI):Urinary albumin-to-creatinine
ratio:Variant Creutzfeldt-Jakob disease:Hypertension (early onset
hypertension):Primary rhegmatogenous retinal detachment |
|
10 |
70696713 |
2 |
DDX50 |
C |
T |
exonic |
synonymous SNV |
DDX50:NM_024045:exon12:c.C1617T:p.Y539Y |
RS5030895 |
Aortic valve calcium |
|
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 |
72619205 |
2 |
SGPL1 |
C |
T |
exonic |
synonymous SNV |
SGPL1:NM_003901:exon7:c.C564T:p.I188I |
|
10 |
74894375 |
2 |
ECD |
T |
C |
exonic |
nonsynonymous SNV |
ECD:NM_001135753:exon13:c.A1772G:p.D591G,ECD:NM_007265:exon14:c.A1901G:p.D634G,ECD:NM_001135752:exon15:c.A2000G:p.D667G |
RS2271904 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe
214136_at] in lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Schizophrenia:Gene expression of NUDT13 in peripheral
blood monocytes:Gene expression of MRPS16 in peripheral blood
monocytes:Triglycerides:Asthma:Gene expression of DNAJC9///MRPS16 in
blood:Gene expression of RP11-152N13.3 in blood:Gene expression of NUDT13
[probeset 214136_at] in sputum:Comorbid depressive syndrome and alcohol
dependence:Advanced age-related macular degeneration (geographic
atrophy):Birth weight:Gene expression of ECD in normal prepouch ileum:Mitral
annular calcium:Gene expression of NUDT13 (probeID ILMN_1680420) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of NUDT13
(probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and
controls |
|
10 |
74896664 |
2 |
ECD |
T |
C |
exonic |
nonsynonymous SNV |
ECD:NM_001135753:exon12:c.A1373G:p.N458S,ECD:NM_007265:exon13:c.A1502G:p.N501S,ECD:NM_001135752:exon14:c.A1601G:p.N534S |
|
10 |
74897816 |
2 |
ECD |
C |
T |
exonic |
synonymous SNV |
ECD:NM_001135753:exon11:c.G1305A:p.E435E,ECD:NM_007265:exon12:c.G1434A:p.E478E,ECD:NM_001135752:exon13:c.G1533A:p.E511E |
RS2271905 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe
214136_at] in lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Triglycerides:Comorbid depressive syndrome and alcohol
dependence:Birth weight:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ECD in normal
prepouch ileum:Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum
in Alzheimer's disease cases and controls |
|
10 |
74899111 |
2 |
ECD |
A |
G |
exonic |
synonymous SNV |
ECD:NM_001135753:exon10:c.T1248C:p.A416A,ECD:NM_007265:exon11:c.T1377C:p.A459A,ECD:NM_001135752:exon12:c.T1476C:p.A492A |
|
10 |
74899134 |
2 |
ECD |
C |
G |
exonic |
nonsynonymous SNV |
ECD:NM_001135753:exon10:c.G1225C:p.E409Q,ECD:NM_007265:exon11:c.G1354C:p.E452Q,ECD:NM_001135752:exon12:c.G1453C:p.E485Q |
RS3736518 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe
214136_at] in lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Triglycerides:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases
and controls |
|
10 |
74916173 |
2 |
ECD |
T |
A |
exonic |
synonymous SNV |
ECD:NM_001135752:exon5:c.A450T:p.A150A,ECD:NM_001135753:exon5:c.A450T:p.A150A,ECD:NM_007265:exon5:c.A450T:p.A150A |
RS12241093 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Triglycerides:Gene expression of NUDT13 (probeID
ILMN_1680420) in temporal cortex in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's
disease cases and controls |
|
10 |
74923562 |
2 |
ECD |
C |
T |
exonic |
nonsynonymous SNV |
ECD:NM_001135752:exon2:c.G134A:p.R45Q,ECD:NM_001135753:exon2:c.G134A:p.R45Q,ECD:NM_007265:exon2:c.G134A:p.R45Q |
RS3812619 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe
214136_at] in lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Triglycerides:Asthma:Gene expression of RP11-152N13.3 in
blood:Gene expression of DNAJC9///MRPS16 in blood:Comorbid depressive
syndrome and alcohol dependence:Gene expression of ECD in normal prepouch
ileum:Advanced age-related macular degeneration (geographic atrophy):Gene
expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of NUDT13 (probeID ILMN_1680420)
in temporal cortex in Alzheimer's disease cases and controls |
|
10 |
75000739 |
2 |
FAM149B1 |
G |
A |
exonic |
nonsynonymous SNV |
FAM149B1:NM_173348:exon14:c.G1711A:p.G571R |
RS12573841 |
Gene expression of NUDT13 in
CEU-CHB-JPT lymphoblastoid cell lines:Triglycerides:LDL
cholesterol:Asthma:Gene expression of RP11-152N13.3 in blood:Gene expression
of DNAJC9///MRPS16 in blood:Gene expression of ECD in normal prepouch
ileum:Birth weight:Advanced age-related macular degeneration (geographic
atrophy):Mitral annular calcium |
|
10 |
75006804 |
2 |
DNAJC9 |
A |
G |
exonic |
synonymous SNV |
DNAJC9:NM_015190:exon1:c.T144C:p.G48G |
|
10 |
75148116 |
2 |
ANXA7 |
A |
G |
exonic |
synonymous SNV |
ANXA7:NM_001320879:exon5:c.T372C:p.D124D,ANXA7:NM_001156:exon6:c.T492C:p.D164D,ANXA7:NM_001320880:exon6:c.T438C:p.D146D,ANXA7:NM_004034:exon7:c.T558C:p.D186D |
RS2234965 |
Gene expression of NUDT13 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe
214136_at] in lymphoblastoid cell lines:Differential splicing of ECD
[probeset 3294253] in lymphoblastoid cell
lines:Triglycerides:Triglycerides:LDL cholesterol:Gene expression of ECD in
normal prepouch ileum:Advanced age-related macular degeneration (geographic
atrophy):Birth weight |
|
10 |
79584178 |
2 |
DLG5 |
G |
C |
exonic |
synonymous SNV |
DLG5:NM_004747:exon14:c.C2346G:p.R782R |
RS1248629 |
Years of education |
|
10 |
79616605 |
2 |
DLG5 |
T |
C |
exonic |
nonsynonymous SNV |
DLG5:NM_004747:exon3:c.A419G:p.Q140R |
RS1248696 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with
statins:Asthma:Late onset Alzheimer's disease |
|
10 |
81926702 |
2 |
ANXA11 |
G |
A |
exonic |
nonsynonymous SNV |
ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C |
RS1049550 |
Sarcoidosis:LDL cholesterol:Total
cholesterol:Rheumatoid arthritis:Chemosensitivity to targeted regimes in
metastatic colorectal cancer (Bevacizumab regimen - disease control
response):Chemosensitivity to targeted regimes in metastatic colorectal
cancer (Bevacizumab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to
targeted regimes in metastatic colorectal cancer (Bevacizumab regimen):Mitral
annular calcium:Birth weight:Sarcoidosis |
|
10 |
82034842 |
2 |
MAT1A |
A |
G |
exonic |
synonymous SNV |
MAT1A:NM_000429:exon7:c.T882C:p.A294A |
RS10887711 |
Years of education:Gene expression
of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease
samples:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in
Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in
temporal cortex in Alzheimer's disease cases and controls:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:College completion |
|
10 |
82034854 |
2 |
MAT1A |
T |
C |
exonic |
synonymous SNV |
MAT1A:NM_000429:exon7:c.A870G:p.V290V |
RS10788546 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex
in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657)
in temporal cortex in non-Alzheimer's disease samples:Advanced age-related
macular degeneration:College completion |
|
10 |
88635779 |
2 |
BMPR1A |
C |
A |
exonic |
nonsynonymous SNV |
BMPR1A:NM_004329:exon3:c.C4A:p.P2T |
|
10 |
88993813 |
2 |
NUTM2A |
T |
A |
exonic |
nonsynonymous SNV |
NUTM2A:NM_001099338:exon7:c.T1985A:p.V662D |
|
10 |
88993911 |
1 |
NUTM2A |
A |
G |
exonic |
nonsynonymous SNV |
NUTM2A:NM_001099338:exon7:c.A2083G:p.K695E |
|
10 |
88994452 |
1 |
NUTM2A |
G |
A |
exonic |
nonsynonymous SNV |
NUTM2A:NM_001099338:exon7:c.G2624A:p.R875H |
|
10 |
89623901 |
2 |
PTEN |
G |
C |
exonic |
nonsynonymous SNV |
PTEN:NM_001304717:exon2:c.G194C:p.C65S |
|
10 |
91066460 |
2 |
IFIT2 |
T |
A |
exonic |
synonymous SNV |
IFIT2:NM_001547:exon2:c.T747A:p.V249V |
RS954439 |
Type 1 diabetes:Gene expression
change of CH25H (ENSG00000138135) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
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 |
91352966 |
2 |
PANK1 |
G |
A |
exonic |
synonymous SNV |
PANK1:NM_138316:exon4:c.C747T:p.C249C,PANK1:NM_148977:exon5:c.C1599T:p.C533C,PANK1:NM_148978:exon5:c.C924T:p.C308C |
RS2296616 |
LDL cholesterol:PROP taste
detection threshold:Infant head circumference:Years of education |
|
10 |
91404448 |
2 |
PANK1 |
C |
G |
exonic |
synonymous SNV |
PANK1:NM_148977:exon1:c.G612C:p.L204L |
|
10 |
91470834 |
2 |
KIF20B |
A |
C |
exonic |
synonymous SNV |
KIF20B:NM_001284259:exon6:c.A607C:p.R203R,KIF20B:NM_016195:exon6:c.A607C:p.R203R |
RS1048057 |
HDL cholesterol:2 hour
glucose:Total cholesterol:LDL cholesterol:Gene expression of KIF20B in CD4+
lymphocytes:Late onset Alzheimer's disease:Gene expression of KIF20B
(ENSG00000138182) in dendritic cells treated with Mycobacterium
tuberculosis:Years of education |
|
10 |
91497631 |
2 |
KIF20B |
T |
A |
exonic |
nonsynonymous SNV |
KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E |
RS1062465 |
Gene expression of MPHOSPH1 in JPT
lymphoblastoid cell lines:HDL cholesterol:2 hour glucose:Total
cholesterol:LDL cholesterol:Lp-PLA2 mass:Gene expression of MPHOSPH1 in
peripheral blood monocytes:Years of education |
|
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 |
91498254 |
2 |
KIF20B |
A |
G |
exonic |
nonsynonymous SNV |
KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S |
RS1886997 |
Gene expression of MPHOSPH1 in JPT
lymphoblastoid cell lines:Longstanding arthritis:HDL cholesterol:2 hour
glucose:Total cholesterol:LDL cholesterol:Lp-PLA2 mass:Gene expression of
KIF20B in CD4+ lymphocytes:Gene expression of KIF20B in blood:Years of education |
|
10 |
91498318 |
2 |
KIF20B |
A |
G |
exonic |
synonymous SNV |
KIF20B:NM_001284259:exon20:c.A3720G:p.K1240K,KIF20B:NM_016195:exon20:c.A3600G:p.K1200K |
|
10 |
91503660 |
2 |
KIF20B |
A |
G |
exonic |
synonymous SNV |
KIF20B:NM_001284259:exon22:c.A4011G:p.K1337K,KIF20B:NM_016195:exon22:c.A3891G:p.K1297K |
|
10 |
94695617 |
2 |
EXOC6 |
C |
T |
exonic |
nonsynonymous SNV |
EXOC6:NM_001319195:exon12:c.C1187T:p.T396I,EXOC6:NM_019053:exon12:c.C1187T:p.T396I,EXOC6:NM_001013848:exon13:c.C1172T:p.T391I,EXOC6:NM_001319194:exon13:c.C1235T:p.T412I |
RS1326331 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Premature ovarian failure:Alzheimer's
disease:Chronic kidney disease:Cystatin C in serum:Serum creatinine:Waist hip
ratio:Gene expression of EXOC6 in blood:Bipolar disorder |
|
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 |
96163039 |
2 |
TBC1D12 |
C |
G |
exonic |
synonymous SNV |
TBC1D12:NM_015188:exon1:c.C669G:p.P223P |
|
10 |
96313960 |
2 |
HELLS |
A |
C |
exonic |
synonymous SNV |
HELLS:NM_001289067:exon3:c.A231C:p.I77I,HELLS:NM_001289068:exon3:c.A183C:p.I61I,HELLS:NM_001289069:exon3:c.A231C:p.I77I,HELLS:NM_001289070:exon3:c.A231C:p.I77I,HELLS:NM_001289072:exon3:c.A231C:p.I77I,HELLS:NM_018063:exon3:c.A231C:p.I77I |
RS11188019 |
HDL cholesterol change with
statins:Total cholesterol:Obesity with early age of onset (age >2):Years
of education:High platelet reactivity in patients with type 2 diabetes during
acetylsalicylic acid (ASA) treatment (defined as CEPI-CT score of <193
s):Mitral annular calcium |
|
10 |
97447373 |
2 |
TCTN3 |
A |
T |
exonic |
synonymous SNV |
TCTN3:NM_015631:exon4:c.T603A:p.T201T |
|
10 |
97920062 |
2 |
ZNF518A |
G |
A |
exonic |
unknown |
UNKNOWN |
RS3814226 |
HDL cholesterol change with
statins:Chronic kidney disease |
|
10 |
98380277 |
2 |
PIK3AP1 |
C |
T |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S |
RS3748234 |
Fasting insulin |
|
10 |
98386558 |
2 |
PIK3AP1 |
G |
A |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L |
|
10 |
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 |
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 |
99376092 |
2 |
MORN4 |
T |
C |
exonic |
synonymous SNV |
MORN4:NM_001098831:exon5:c.A369G:p.R123R,MORN4:NM_178832:exon5:c.A369G:p.R123R |
RS3814555 |
Systolic blood pressure (SBP):Gene
expression of MORN4 in normal prepouch ileum |
|
10 |
99400646 |
2 |
PI4K2A |
G |
A |
exonic |
synonymous SNV |
PI4K2A:NM_018425:exon1:c.G147A:p.P49P |
|
10 |
99410790 |
2 |
PI4K2A |
T |
C |
exonic |
synonymous SNV |
PI4K2A:NM_018425:exon2:c.T528C:p.P176P |
RS7915721 |
HOMA-B:HOMA-IR:Fasting
insulin:Autism:HDL cholesterol:Gene expression of MORN4 in normal prepouch
ileum |
|
10 |
99439541 |
2 |
AVPI1 |
G |
C |
exonic |
nonsynonymous SNV |
AVPI1:NM_021732:exon2:c.C122G:p.A41G |
RS2275047 |
Gene expression of C10orf83 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Chronic kidney
disease:Body mass index (BMI):Systolic blood pressure (SBP):College
completion |
|
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 |
101090428 |
2 |
CNNM1 |
T |
G |
exonic |
synonymous SNV |
CNNM1:NM_001345887:exon1:c.T1284G:p.V428V,CNNM1:NM_001345888:exon1:c.T1284G:p.V428V,CNNM1:NM_001345889:exon1:c.T1284G:p.V428V,CNNM1:NM_020348:exon1:c.T1284G:p.V428V |
RS2862600 |
Serum creatinine:Chronic kidney
disease:Autism without verbal ability:Comorbid depressive syndrome and
alcohol dependence:Years of education |
|
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 |
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 |
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 |
115609915 |
2 |
DCLRE1A |
C |
G |
exonic |
nonsynonymous SNV |
DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H |
RS3750898 |
LDL cholesterol:Triglycerides |
|
10 |
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 |
123298158 |
2 |
FGFR2 |
T |
C |
exonic |
synonymous SNV |
FGFR2:NM_001144916:exon3:c.A351G:p.V117V,FGFR2:NM_001144918:exon4:c.A351G:p.V117V,FGFR2:NM_023029:exon4:c.A429G:p.V143V,FGFR2:NM_001144913:exon5:c.A696G:p.V232V,FGFR2:NM_001144914:exon5:c.A696G:p.V232V,FGFR2:NM_001144915:exon5:c.A429G:p.V143V,FGFR2:NM_001144919:exon5:c.A429G:p.V143V,FGFR2:NM_000141:exon6:c.A696G:p.V232V,FGFR2:NM_001144917:exon6:c.A696G:p.V232V,FGFR2:NM_001320658:exon6:c.A696G:p.V232V,FGFR2:NM_022970:exon6:c.A696G:p.V232V |
RS1047100 |
Schizophrenia:Asthma:Maternal
transmission distortion:Refractive error:Infant head circumference |
|
10 |
123549691 |
2 |
ATE1 |
T |
G |
exonic |
synonymous SNV |
ATE1:NM_001288735:exon9:c.A1083C:p.P361P,ATE1:NM_001288734:exon10:c.A1026C:p.P342P,ATE1:NM_001001976:exon11:c.A1371C:p.P457P,ATE1:NM_001288736:exon11:c.A1350C:p.P450P,ATE1:NM_007041:exon11:c.A1371C:p.P457P |
|
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 |
124183732 |
2 |
PLEKHA1 |
T |
C |
exonic |
synonymous SNV |
PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R,PLEKHA1:NM_001330178:exon10:c.T699C:p.R233R |
RS4405249 |
LDL cholesterol:Total
cholesterol:Serum creatinine:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
10 |
125804385 |
2 |
CHST15 |
A |
G |
exonic |
synonymous SNV |
CHST15:NM_001270764:exon3:c.T597C:p.C199C,CHST15:NM_001270765:exon3:c.T597C:p.C199C,CHST15:NM_014863:exon3:c.T597C:p.C199C,CHST15:NM_015892:exon3:c.T597C:p.C199C |
|
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 |
133795391 |
2 |
BNIP3 |
A |
C |
exonic |
nonsynonymous SNV |
BNIP3:NM_004052:exon1:c.T115G:p.S39A |
|
10 |
134036193 |
2 |
STK32C |
A |
G |
exonic |
synonymous SNV |
STK32C:NM_001318878:exon10:c.T1242C:p.R414R,STK32C:NM_001318879:exon10:c.T852C:p.R284R,STK32C:NM_173575:exon10:c.T1203C:p.R401R |
|
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 |
134218269 |
2 |
PWWP2B |
C |
T |
exonic |
nonsynonymous SNV |
PWWP2B:NM_001098637:exon2:c.C265T:p.R89C,PWWP2B:NM_138499:exon2:c.C265T:p.R89C |
RS11146363 |
Arthritis including
non-Rheumatoid:Triglycerides |
|
10 |
134218296 |
2 |
PWWP2B |
C |
G |
exonic |
nonsynonymous SNV |
PWWP2B:NM_001098637:exon2:c.C292G:p.R98G,PWWP2B:NM_138499:exon2:c.C292G:p.R98G |
|
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 |
135204950 |
2 |
PAOX |
C |
G |
exonic |
nonsynonymous SNV |
PAOX:NM_207128:exon6:c.C1369G:p.Q457E |
RS1046175 |
Gene expression of PAOX
(ENSG00000148832) in dendritic cells treated with Mycobacterium tuberculosis |
|
10 |
135205009 |
2 |
PAOX |
C |
G |
exonic |
synonymous SNV |
PAOX:NM_207128:exon6:c.C1428G:p.P476P |
RS1046178 |
Triglycerides:HDL cholesterol:Serum
creatinine |
|
10 |
135233541 |
2 |
MTG1 |
A |
G |
exonic |
nonsynonymous SNV |
MTG1:NM_138384:exon11:c.A877G:p.I293V |
|
10 |
153219665 |
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 |
406043 |
2 |
SIGIRR |
G |
A |
exonic |
synonymous SNV |
SIGIRR:NM_001135053:exon10:c.C1086T:p.V362V,SIGIRR:NM_001135054:exon10:c.C1086T:p.V362V,SIGIRR:NM_021805:exon10:c.C1086T:p.V362V |
|
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 |
551753 |
2 |
LRRC56 |
G |
A |
exonic |
nonsynonymous SNV |
LRRC56:NM_198075:exon10:c.G899A:p.R300H |
|
11 |
554166 |
2 |
LRRC56 |
C |
G |
exonic |
nonsynonymous SNV |
LRRC56:NM_198075:exon14:c.C1519G:p.R507G |
RS10902170 |
Gene expression of RASSF7
(ENSG00000099849) in dendritic cells treated with Mycobacterium tuberculosis |
|
11 |
556857 |
2 |
LMNTD2 |
G |
C |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon8:c.C954G:p.G318G |
|
11 |
557989 |
2 |
LMNTD2 |
C |
T |
exonic |
synonymous SNV |
LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q |
|
11 |
610277 |
2 |
PHRF1 |
T |
C |
exonic |
nonsynonymous SNV |
PHRF1:NM_001286581:exon15:c.T4346C:p.V1449A,PHRF1:NM_001286582:exon15:c.T4340C:p.V1447A,PHRF1:NM_001286583:exon15:c.T4334C:p.V1445A,PHRF1:NM_020901:exon15:c.T4343C:p.V1448A |
RS11246212 |
LDL cholesterol:Urinary
albumin-to-creatinine ratio |
|
11 |
619789 |
2 |
CDHR5 |
T |
G |
exonic |
nonsynonymous SNV |
CDHR5:NM_001171968:exon10:c.A1071C:p.R357S,CDHR5:NM_021924:exon10:c.A1071C:p.R357S,CDHR5:NM_031264:exon10:c.A1071C:p.R357S |
RS2246614 |
HDL cholesterol:Gene expression of
IRF7 (probeID ILMN_2349061) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of IRF7 (probeID ILMN_2349061) in cerebellum in
non-Alzheimer's disease samples:Gene expression of IRF7 (probeID ILMN_2349061)
in temporal cortex in Alzheimer's disease cases:Gene expression of IRF7
(probeID ILMN_2349061) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TMEM80 (probeID ILMN_1689868) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of EPS8L2
(ENSG00000177106) in dendritic cells:Gene expression of IRF7 (probeID
ILMN_2349061) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of IRF7 (probeID ILMN_2349061) in cerebellum in Alzheimer's
disease cases:Gene expression of IRF7 (probeID ILMN_2349061) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of TMEM80
(probeID ILMN_1689868) in temporal cortex in Alzheimer's disease cases and
controls |
|
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 |
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 |
5625847 |
2 |
TRIM6;TRIM6-TRIM34 |
A |
G |
exonic |
synonymous SNV |
TRIM6:NM_001003818:exon3:c.A591G:p.K197K,TRIM6-TRIM34:NM_001003819:exon3:c.A591G:p.K197K,TRIM6:NM_058166:exon3:c.A507G:p.K169K |
RS3751006 |
Gene expression of TRIM34 [probe
3318390] in peripheral blood mononuclear cells:HDL cholesterol:Cystatin C in
serum:Height:Gene expression of TRIM34 [transcript NM_021616, probe
A_23_P124190] in liver:Gene expression of AC087380.13///HBG2 in blood:Gene expression
of PSCDBP (probeID ILMN_2092041) in breast tumors:Maternal transmission
distortion |
|
11 |
5632212 |
2 |
TRIM6 |
G |
A |
exonic |
synonymous SNV |
TRIM6:NM_001198645:exon6:c.G582A:p.L194L,TRIM6:NM_001198644:exon7:c.G582A:p.L194L,TRIM6:NM_001003818:exon8:c.G1191A:p.L397L,TRIM6:NM_058166:exon8:c.G1107A:p.L369L |
|
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 |
6238960 |
2 |
FAM160A2 |
C |
A |
exonic |
nonsynonymous SNV |
FAM160A2:NM_001098794:exon9:c.G1856T:p.R619L,FAM160A2:NM_032127:exon9:c.G1898T:p.R633L |
|
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 |
6555365 |
2 |
DNHD1 |
A |
G |
exonic |
nonsynonymous SNV |
DNHD1:NM_144666:exon14:c.A2960G:p.D987G |
RS7103810 |
Eye color:Cystatin C in
serum:Sporadic Creutzfeldt-Jakob disease:Birth weight:Transmission
distortion:Tetrology of fallot:Maternal transmission distortion:Myopia
(severe myopia) |
|
11 |
6585007 |
2 |
DNHD1 |
G |
A |
exonic |
nonsynonymous SNV |
DNHD1:NM_144666:exon31:c.G9937A:p.D3313N |
RS11040923 |
Hypertension (early onset
hypertension):Aortic valve calcium |
|
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 |
7662732 |
2 |
PPFIBP2 |
C |
T |
exonic |
synonymous SNV |
PPFIBP2:NM_001256569:exon12:c.C969T:p.D323D,PPFIBP2:NM_001256568:exon13:c.C1062T:p.D354D,PPFIBP2:NM_003621:exon16:c.C1398T:p.D466D |
RS4643071 |
Risperidone response in
schizophrenia treatment |
|
11 |
7670440 |
2 |
PPFIBP2 |
A |
G |
exonic |
nonsynonymous SNV |
PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G |
|
11 |
7686674 |
2 |
CYB5R2 |
T |
C |
exonic |
synonymous SNV |
CYB5R2:NM_001302826:exon9:c.A762G:p.L254L,CYB5R2:NM_016229:exon9:c.A762G:p.L254L |
RS13854 |
HDL cholesterol:Chronic kidney
disease:Gene expression of PPFIBP2 in peripheral blood monocytes:Gene
expression of CYB5R2 in peripheral blood monocytes:Gene expression of PPFIBP2
in blood:Advanced age-related macular degeneration (geographic atrophy) |
|
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 |
10555589 |
2 |
RNF141 |
A |
G |
exonic |
synonymous SNV |
RNF141:NM_016422:exon2:c.T117C:p.L39L |
RS1065052 |
Gene expression of MRVI1 (probeID
ILMN_1766157) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MRVI1 (probeID ILMN_1766157) in cerebellum in
Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression
of MRVI1 (probeID ILMN_1766157) in whole blood |
|
11 |
10786142 |
2 |
CTR9 |
C |
T |
exonic |
synonymous SNV |
CTR9:NM_001346279:exon12:c.C1461T:p.H487H,CTR9:NM_014633:exon12:c.C1461T:p.H487H |
RS3736326 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Advanced age-related macular
degeneration (geographic atrophy) |
|
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 |
18267027 |
2 |
SAA2 |
C |
T |
exonic |
nonsynonymous SNV |
SAA2:NM_030754:exon4:c.G266A:p.R89H |
RS2468844 |
Type 1 diabetes:Gene expression of
SAA4 (ENSG00000148965) in dendritic cells:Refractive error |
|
11 |
18555901 |
2 |
UEVLD |
C |
G |
exonic |
synonymous SNV |
UEVLD:NM_001261384:exon9:c.G834C:p.V278V,UEVLD:NM_001261382:exon10:c.G1158C:p.V386V,UEVLD:NM_001040697:exon11:c.G1224C:p.V408V |
|
11 |
18555949 |
2 |
UEVLD |
T |
C |
exonic |
synonymous SNV |
UEVLD:NM_001261384:exon9:c.A786G:p.L262L,UEVLD:NM_001261382:exon10:c.A1110G:p.L370L,UEVLD:NM_001040697:exon11:c.A1176G:p.L392L |
|
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 |
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 |
22242729 |
2 |
ANO5 |
T |
C |
exonic |
synonymous SNV |
ANO5:NM_001142649:exon5:c.T264C:p.D88D,ANO5:NM_213599:exon5:c.T267C:p.D89D |
RS4312063 |
Cystatin C in serum:Waist hip
ratio:Parkinson's disease:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
11 |
26702664 |
2 |
SLC5A12 |
C |
T |
exonic |
synonymous SNV |
SLC5A12:NM_178498:exon12:c.G1413A:p.L471L |
|
11 |
27077118 |
2 |
BBOX1 |
C |
T |
exonic |
synonymous SNV |
BBOX1:NM_003986:exon3:c.C141T:p.S47S |
|
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 |
28134974 |
2 |
METTL15 |
C |
A |
exonic |
nonsynonymous SNV |
METTL15:NM_001113528:exon3:c.C93A:p.N31K,METTL15:NM_001297775:exon3:c.C93A:p.N31K,METTL15:NM_152636:exon3:c.C93A:p.N31K |
|
11 |
32124978 |
2 |
RCN1 |
T |
C |
exonic |
synonymous SNV |
RCN1:NM_002901:exon5:c.T840C:p.H280H |
RS4876 |
LDL cholesterol change with
statins:Total cholesterol:Total cholesterol change with statins:HDL
cholesterol:Advanced age-related macular degeneration (geographic atrophy) |
|
11 |
32125961 |
2 |
RCN1 |
C |
T |
exonic |
synonymous SNV |
RCN1:NM_002901:exon6:c.C939T:p.V313V |
RS11529889 |
LDL cholesterol change with
statins:Total cholesterol:Total cholesterol change with statins:Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
32956620 |
2 |
QSER1 |
A |
G |
exonic |
synonymous SNV |
QSER1:NM_001076786:exon4:c.A3429G:p.P1143P |
RS7481878 |
Autism:Autism with verbal
ability:Bipolar disorder |
|
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 |
34909926 |
2 |
APIP |
T |
G |
exonic |
synonymous SNV |
APIP:NM_015957:exon5:c.A375C:p.T125T |
RS1571133 |
Gene expression of MMRP19 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol:LDL
cholesterol:Cystatin C in serum:HDL cholesterol:Height:Adiponectin levels |
|
11 |
34910397 |
2 |
APIP |
C |
T |
exonic |
nonsynonymous SNV |
APIP:NM_015957:exon4:c.G227A:p.C76Y |
RS1977420 |
Gene expression of MMRP19 in
CHB-JPT lymphoblastoid cell lines:Gene expression of APIP [probe 3369249] in
peripheral blood mononuclear cells:Partial epilepsy:Asthma |
|
11 |
34937813 |
2 |
APIP |
G |
A |
exonic |
nonsynonymous SNV |
APIP:NM_015957:exon1:c.C19T:p.R7W |
RS2956114 |
Gene expression of MMRP19 in
CHB-JPT lymphoblastoid cell lines:Partial epilepsy:Asthma:Rheumatoid
arthritis |
|
11 |
34937931 |
2 |
PDHX |
G |
A |
exonic |
nonsynonymous SNV |
PDHX:NM_001135024:exon1:c.G13A:p.G5S |
|
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 |
35226155 |
2 |
CD44 |
A |
G |
exonic |
nonsynonymous SNV |
CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R |
RS9666607 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Body mass index (BMI):Primary
rhegmatogenous retinal detachment |
|
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 |
46898771 |
1 |
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 |
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 |
47270255 |
1 |
ACP2 |
C |
T |
exonic |
nonsynonymous SNV |
ACP2:NM_001302490:exon1:c.G86A:p.R29Q,ACP2:NM_001302491:exon1:c.G86A:p.R29Q,ACP2:NM_001610:exon1:c.G86A:p.R29Q |
RS2167079 |
Progressive supranuclear palsy:HDL
cholesterol:HDL cholesterol (mmol/l):Fasting blood glucose:Total
cholesterol:HDL cholesterol:Asthma:Waist hip ratio:Body mass index (BMI):Late
onset Alzheimer's disease:Refractive error |
|
11 |
47282024 |
1 |
NR1H3 |
C |
T |
exonic |
synonymous SNV |
NR1H3:NM_001130102:exon3:c.C162T:p.S54S,NR1H3:NM_001130101:exon4:c.C297T:p.S99S,NR1H3:NM_001251934:exon4:c.C315T:p.S105S,NR1H3:NM_001251935:exon4:c.C315T:p.S105S,NR1H3:NM_005693:exon4:c.C297T:p.S99S |
RS2279238 |
HDL cholesterol:Fasting blood
glucose:Triglycerides change with statins:Total cholesterol:HDL
cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Body mass index
(BMI):College completion:HDL cholesterol:Acute lung injury following major
trauma:Years of education:Refractive error |
|
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 |
48188872 |
1 |
PTPRJ |
G |
A |
exonic |
synonymous SNV |
PTPRJ:NM_002843:exon25:c.G3972A:p.A1324A |
|
11 |
57077464 |
2 |
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 |
57463500 |
2 |
ZDHHC5 |
T |
C |
exonic |
synonymous SNV |
ZDHHC5:NM_015457:exon9:c.T994C:p.L332L |
RS1783978 |
Fasting blood glucose:Serum
creatinine:Total cholesterol:Height:Resistance to kuru in aged women despite
likely exposure:Birth weight |
|
11 |
57506156 |
1 |
TMX2 |
G |
C |
exonic |
nonsynonymous SNV |
TMX2:NM_001144012:exon4:c.G348C:p.K116N,TMX2:NM_001347890:exon5:c.G462C:p.K154N,TMX2:NM_001347891:exon5:c.G378C:p.K126N,TMX2:NM_001347892:exon5:c.G255C:p.K85N,TMX2:NM_001347893:exon5:c.G180C:p.K60N,TMX2:NM_001347894:exon5:c.G180C:p.K60N,TMX2:NM_001347895:exon5:c.G180C:p.K60N,TMX2:NM_001347896:exon5:c.G180C:p.K60N,TMX2:NM_001347898:exon5:c.G462C:p.K154N,TMX2:NM_015959:exon5:c.G462C:p.K154N |
|
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 |
58318619 |
2 |
LPXN |
C |
G |
exonic |
synonymous SNV |
LPXN:NM_001307951:exon4:c.G345C:p.L115L,LPXN:NM_001143995:exon5:c.G420C:p.L140L,LPXN:NM_004811:exon5:c.G405C:p.L135L |
RS1047979 |
Triglycerides:Chronic kidney
disease:Systolic blood pressure (SBP) |
|
11 |
60610065 |
2 |
CCDC86 |
G |
A |
exonic |
synonymous SNV |
CCDC86:NM_024098:exon1:c.G468A:p.P156P |
|
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 |
60695301 |
2 |
TMEM132A |
C |
A |
exonic |
synonymous SNV |
TMEM132A:NM_017870:exon3:c.C504A:p.A168A,TMEM132A:NM_178031:exon3:c.C504A:p.A168A |
RS575123 |
Myopia |
|
11 |
60703777 |
2 |
TMEM132A |
G |
A |
exonic |
nonsynonymous SNV |
TMEM132A:NM_017870:exon11:c.G2473A:p.E825K,TMEM132A:NM_178031:exon11:c.G2470A:p.E824K |
|
11 |
60899767 |
2 |
VPS37C |
A |
G |
exonic |
nonsynonymous SNV |
VPS37C:NM_017966:exon5:c.T593C:p.L198S |
RS754382 |
Spine bone mineral density
(BMD):Fasting blood glucose:HDL cholesterol:Gene expression of CD6 in
blood:Gene expression of [probe 1260762 centered at chr11:60755878] in
blood:Gene expression of CD5 in blood:Serum PUFA:Serum LA/PUFA |
|
11 |
61106892 |
2 |
TKFC |
G |
C |
exonic |
synonymous SNV |
TKFC:NM_015533:exon5:c.G471C:p.T157T |
|
11 |
61108974 |
2 |
TKFC |
G |
A |
exonic |
nonsynonymous SNV |
TKFC:NM_015533:exon6:c.G553A:p.A185T |
|
11 |
61112802 |
2 |
TKFC |
C |
T |
exonic |
synonymous SNV |
TKFC:NM_015533:exon14:c.C1311T:p.V437V |
|
11 |
61165280 |
2 |
TMEM216 |
G |
A |
exonic |
synonymous SNV |
TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P |
RS3741265 |
Irritible bowel syndrome:Gene
expression of PGA5 in peripheral blood monocytes:Gene expression of PGA3 in
peripheral blood monocytes:Gene expression of RFT1 in peripheral blood
monocytes:Total cholesterol:LDL cholesterol:Mitral annular calcium |
|
11 |
61165741 |
2 |
TMEM216;TMEM216 |
G |
C |
exonic;splicing |
nonsynonymous SNV |
TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T |
RS10897158 |
Irritible bowel syndrome |
|
11 |
61179285 |
2 |
CPSF7 |
G |
A |
exonic |
synonymous SNV |
CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I |
|
11 |
61505168 |
2 |
DAGLA |
G |
A |
exonic |
synonymous SNV |
DAGLA:NM_006133:exon15:c.G1524A:p.A508A |
RS198444 |
Total cholesterol:LDL
cholesterol:Serum LA/PUFA:Adiponectin levels: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 |
63585804 |
2 |
C11orf84 |
C |
A |
exonic |
synonymous SNV |
C11orf84:NM_138471:exon3:c.C574A:p.R192R |
RS643634 |
Gene expression of LOC144097 in JPT
lymphoblastoid cell lines:HOMA-B:HDL cholesterol change with statins:Systolic
blood pressure (SBP):Salmonella-induced pyroptosis:Advanced age-related
macular degeneration |
|
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 |
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 |
64809044 |
2 |
SAC3D1 |
C |
T |
exonic |
nonsynonymous SNV |
SAC3D1:NM_013299:exon1:c.C280T:p.R94C |
|
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 |
65546857 |
2 |
AP5B1 |
A |
C |
exonic |
synonymous SNV |
AP5B1:NM_138368:exon2:c.T1107G:p.L369L |
RS610037 |
LDL cholesterol:Serum
creatinine:Chronic kidney disease:Gene expression of AYP1P1 in peripheral
blood monocytes:Gene expression of MAP3K11 in peripheral blood monocytes:LDL
cholesterol:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Gene
expression of EFEMP2 (ENSG00000172638) in dendritic cells treated with
Mycobacterium tuberculosis:Infant head circumference |
|
11 |
65547333 |
2 |
AP5B1 |
G |
A |
exonic |
nonsynonymous SNV |
AP5B1:NM_138368:exon2:c.C631T:p.L211F |
RS12146493 |
Total cholesterol:LDL
cholesterol:Total cholesterol:Myocardial infarction (MI):Gene expression of
OVOL1 (ENSG00000172818) in dendritic cells treated with Mycobacterium
tuberculosis:Infant head circumference:Birth weight |
|
11 |
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 |
65732651 |
2 |
SART1 |
G |
A |
exonic |
synonymous SNV |
SART1:NM_005146:exon4:c.G516A:p.A172A |
RS550435 |
LDL cholesterol:Height:Infant head
circumference:Gene expression of SNX32 in normal prepouch ileum |
|
11 |
65735174 |
2 |
SART1 |
G |
C |
exonic |
nonsynonymous SNV |
SART1:NM_005146:exon12:c.G1454C:p.G485A |
RS660118 |
LDL cholesterol:Height:Infant head
circumference:Adiponectin levels |
|
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 |
66523904 |
1 |
C11orf80 |
A |
G |
exonic |
nonsynonymous SNV |
C11orf80:NM_024650:exon3:c.A397G:p.S133G |
|
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 |
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 |
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 |
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 |
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 |
71941212 |
2 |
INPPL1 |
A |
G |
exonic |
synonymous SNV |
INPPL1:NM_001567:exon9:c.A987G:p.S329S |
RS2276048 |
Arthritis including
non-Rheumatoid:HDL cholesterol change with statins:Gene expression of FOLR3
in peripheral blood monocytes:Asthma:Gene expression of FOLR2 in liver:Gene
expression of ILI8BP in blood:Variant Creutzfeldt-Jakob
disease:Salmonella-induced pyroptosis:Primary rhegmatogenous retinal
detachment:Transmission distortion:Gene expression of INPPL1 (probeID
ILMN_1728426) in temporal cortex in Alzheimer's disease cases and
controls:Birth weight:Gene expression of INPPL1 (probeID ILMN_1728426) in cerebellum
in Alzheimer's disease cases and controls |
|
11 |
74203308 |
2 |
LIPT2 |
T |
A |
exonic |
nonsynonymous SNV |
LIPT2:NM_001144869:exon2:c.A568T:p.T190S |
RS586088 |
Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy):Refractive error:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
11 |
74204727 |
2 |
LIPT2 |
A |
G |
exonic |
synonymous SNV |
LIPT2:NM_001144869:exon1:c.T22C:p.L8L,LIPT2:NM_001329941:exon1:c.T22C:p.L8L,LIPT2:NM_001329942:exon1:c.T22C:p.L8L |
|
11 |
74559446 |
2 |
XRRA1 |
G |
C |
exonic |
nonsynonymous SNV |
XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R |
RS4944960 |
Gene expression of XRRA1 [probe
230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe
237666_at] in lymphoblastoid cell lines:HDL cholesterol:Tardive
dyskinesia:Lp-PLA2 activity:Height:Body mass index (BMI):College
completion:Years of education |
|
11 |
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 |
74907582 |
2 |
SLCO2B1 |
C |
T |
exonic |
nonsynonymous SNV |
SLCO2B1:NM_001145212:exon7:c.C1025T:p.S342F,SLCO2B1:NM_001145211:exon10:c.C1391T:p.S464F,SLCO2B1:NM_007256:exon10:c.C1457T:p.S486F |
RS2306168 |
Rheumatoid
arthritis:Height:Salmonella-induced pyroptosis |
|
11 |
75152243 |
2 |
GDPD5 |
C |
T |
exonic |
nonsynonymous SNV |
GDPD5:NM_001351167:exon10:c.G1024A:p.A342T,GDPD5:NM_030792:exon14:c.G1438A:p.A480T,GDPD5:NM_001351168:exon15:c.G703A:p.A235T |
RS571353 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
11 |
77909014 |
2 |
USP35 |
G |
A |
exonic |
nonsynonymous SNV |
USP35:NM_020798:exon3:c.G706A:p.V236M |
RS2510044 |
Eye color:LDL
cholesterol:Schizophrenia:LDL cholesterol change with statins:HDL cholesterol
change with statins:Total cholesterol change with statins:Serum
creatinine:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index
(BMI):Microalbuminuria:Gene expression of USP35///GAB2 in blood:Gene
expression of GAB2 in blood:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Coronary artery disease
(CAD):Advanced age-related macular degeneration |
|
11 |
77920563 |
2 |
USP35 |
G |
T |
exonic |
synonymous SNV |
USP35:NM_020798:exon10:c.G1662T:p.P554P |
RS2510045 |
LDL cholesterol:LDL cholesterol
change with statins:Serum creatinine:LDL cholesterol:Triglycerides:Total
cholesterol:Body mass index (BMI):Microalbuminuria:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization)
vs. no AMD |
|
11 |
77920930 |
2 |
USP35 |
A |
G |
exonic |
nonsynonymous SNV |
USP35:NM_020798:exon10:c.A2029G:p.I677V |
RS2511188 |
Eye color:LDL cholesterol:LDL
cholesterol change with statins:Total cholesterol change with statins:Serum
creatinine:Total cholesterol:LDL cholesterol:Triglycerides:Body mass index
(BMI):Gene expression of INT4 [probe ILMN_16097] in osteoblasts treated with
PGE2:Gene expression of INT4 [probe ILMN_16097] in osteoblasts treated with
pge-2:Longevity:Gene expression of GAB2 in blood:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration |
|
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 |
77930345 |
2 |
GAB2 |
T |
C |
exonic |
synonymous SNV |
GAB2:NM_012296:exon10:c.A1890G:p.S630S,GAB2:NM_080491:exon10:c.A2004G:p.S668S |
RS2450122 |
LDL cholesterol:LDL cholesterol
change with statins:Serum creatinine:Body mass index
(BMI):Microalbuminuria:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
11 |
77936166 |
2 |
GAB2 |
A |
G |
exonic |
synonymous SNV |
GAB2:NM_012296:exon5:c.T1176C:p.V392V,GAB2:NM_080491:exon5:c.T1290C:p.V430V |
RS1385600 |
Late onset Alzheimer's disease:LDL
cholesterol:LDL cholesterol change with statins:Serum creatinine:Gene
expression of NARS2 in peripheral blood monocytes:Gene expression of GAB2 in
peripheral blood monocytes:Triglycerides:LDL cholesterol:Total cholesterol:Body
mass index (BMI):Microalbuminuria:Late onset Alzheimer's disease:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
11 |
77937800 |
2 |
GAB2 |
G |
A |
exonic |
synonymous SNV |
GAB2:NM_012296:exon4:c.C804T:p.F268F,GAB2:NM_080491:exon4:c.C918T:p.F306F |
RS2248407 |
LDL cholesterol:Serum
creatinine:Triglycerides:Total cholesterol:LDL cholesterol:Body mass index
(BMI):Microalbuminuria:Alzheimer's disease:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
11 |
82535963 |
2 |
PRCP |
C |
T |
exonic |
synonymous SNV |
PRCP:NM_001319214:exon8:c.G1161A:p.A387A,PRCP:NM_005040:exon9:c.G1476A:p.A492A,PRCP:NM_199418:exon10:c.G1539A:p.A513A |
RS4759 |
HOMA-IR:Fasting insulin:Cystatin C
in serum |
|
11 |
82996986 |
2 |
CCDC90B |
A |
C |
exonic |
nonsynonymous SNV |
CCDC90B:NM_021825:exon1:c.T30G:p.F10L |
RS494791 |
Partial
epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
11 |
85374993 |
2 |
CREBZF |
C |
T |
exonic |
synonymous SNV |
CREBZF:NM_001039618:exon1:c.G927A:p.P309P |
RS1192 |
Advanced age-related macular
degeneration:College completion:Years of education:Advanced age-related
macular degeneration (geographic atrophy) |
|
11 |
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 |
100846936 |
2 |
ARHGAP42 |
A |
G |
exonic |
synonymous SNV |
ARHGAP42:NM_152432:exon20:c.A2004G:p.P668P |
RS654593 |
Total cholesterol |
|
11 |
100847050 |
2 |
ARHGAP42 |
A |
G |
exonic |
synonymous SNV |
ARHGAP42:NM_152432:exon20:c.A2118G:p.S706S |
|
11 |
100847069 |
2 |
ARHGAP42 |
G |
A |
exonic |
nonsynonymous SNV |
ARHGAP42:NM_152432:exon20:c.G2137A:p.V713I |
RS569336 |
Total cholesterol:HDL cholesterol |
|
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 |
107420530 |
2 |
ALKBH8 |
A |
G |
exonic |
synonymous SNV |
ALKBH8:NM_001301010:exon7:c.T729C:p.D243D,ALKBH8:NM_138775:exon7:c.T720C:p.D240D |
RS645056 |
Spine bone mineral density
(BMD):Fasting blood glucose:HDL cholesterol change with statins:Bipolar
disorder:Tourette's syndrome:Tetrology of fallot |
|
11 |
107917087 |
2 |
CUL5 |
A |
G |
exonic |
synonymous SNV |
CUL5:NM_003478:exon3:c.A225G:p.Q75Q |
|
11 |
108183167 |
2 |
ATM |
A |
G |
exonic |
nonsynonymous SNV |
ATM:NM_000051:exon40:c.A5948G:p.N1983S |
|
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 |
113670052 |
2 |
USP28 |
T |
A |
exonic |
synonymous SNV |
USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T |
|
11 |
113679119 |
2 |
USP28 |
C |
T |
exonic |
synonymous SNV |
USP28:NM_001346268:exon14:c.G1206A:p.S402S,USP28:NM_001301029:exon16:c.G1830A:p.S610S,USP28:NM_001346260:exon16:c.G1833A:p.S611S,USP28:NM_001346261:exon16:c.G1830A:p.S610S,USP28:NM_001346264:exon16:c.G1206A:p.S402S,USP28:NM_001346267:exon16:c.G1206A:p.S402S,USP28:NM_001346253:exon17:c.G2127A:p.S709S,USP28:NM_001346257:exon17:c.G2127A:p.S709S,USP28:NM_001346259:exon17:c.G2127A:p.S709S,USP28:NM_001346262:exon17:c.G1830A:p.S610S,USP28:NM_001346263:exon17:c.G1344A:p.S448S,USP28:NM_001346269:exon17:c.G1149A:p.S383S,USP28:NM_001346272:exon17:c.G1149A:p.S383S,USP28:NM_001346252:exon18:c.G2205A:p.S735S,USP28:NM_001346254:exon18:c.G2208A:p.S736S,USP28:NM_001346258:exon18:c.G2205A:p.S735S,USP28:NM_020886:exon18:c.G2205A:p.S735S,USP28:NM_001346255:exon19:c.G2196A:p.S732S,USP28:NM_001346265:exon19:c.G1149A:p.S383S,USP28:NM_001346271:exon19:c.G1149A:p.S383S,USP28:NM_001346270:exon20:c.G1149A:p.S383S |
RS2465647 |
Fasting blood glucose:Serum
creatinine:Rheumatoid arthritis:Age-related macular degeneration |
|
11 |
113698002 |
2 |
USP28 |
C |
T |
exonic |
synonymous SNV |
USP28:NM_001346268:exon7:c.G141A:p.E47E,USP28:NM_001301029:exon9:c.G765A:p.E255E,USP28:NM_001346260:exon9:c.G768A:p.E256E,USP28:NM_001346261:exon9:c.G765A:p.E255E,USP28:NM_001346264:exon9:c.G141A:p.E47E,USP28:NM_001346267:exon9:c.G141A:p.E47E,USP28:NM_001346253:exon10:c.G1062A:p.E354E,USP28:NM_001346257:exon10:c.G1062A:p.E354E,USP28:NM_001346259:exon10:c.G1062A:p.E354E,USP28:NM_001346262:exon10:c.G765A:p.E255E,USP28:NM_001346263:exon10:c.G279A:p.E93E,USP28:NM_001346269:exon10:c.G84A:p.E28E,USP28:NM_001346272:exon10:c.G84A:p.E28E,USP28:NM_001346252:exon11:c.G1140A:p.E380E,USP28:NM_001346254:exon11:c.G1143A:p.E381E,USP28:NM_001346258:exon11:c.G1140A:p.E380E,USP28:NM_001346273:exon11:c.G1140A:p.E380E,USP28:NM_020886:exon11:c.G1140A:p.E380E,USP28:NM_001346255:exon12:c.G1131A:p.E377E,USP28:NM_001346265:exon12:c.G84A:p.E28E,USP28:NM_001346271:exon12:c.G84A:p.E28E,USP28:NM_001346270:exon13:c.G84A:p.E28E |
RS17802314 |
Gene expression of MCOLN3 in
peripheral blood monocytes:Diastolic blood pressure (DBP) |
|
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 |
118509668 |
2 |
PHLDB1 |
A |
G |
exonic |
synonymous SNV |
PHLDB1:NM_001144758:exon11:c.A2595G:p.E865E,PHLDB1:NM_001144759:exon11:c.A2595G:p.E865E,PHLDB1:NM_015157:exon12:c.A2595G:p.E865E |
RS483598 |
Rheumatoid arthritis:Total
cholesterol:LDL cholesterol:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Type 2 diabetes:Gene expression of TREH in normal
prepouch ileum:Obesity with early age of onset (age >2) |
|
11 |
118893137 |
2 |
|
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 |
118967758 |
2 |
DPAGT1 |
T |
C |
exonic |
nonsynonymous SNV |
DPAGT1:NM_001382:exon9:c.A1177G:p.I393V |
RS643788 |
Gene expression of ATP9B in YRI
lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level
expression of MIZF [probe 3351957] in brain cortex:Gene expression of MIZF
[probe 3351931] in brain cortex:Premature ovarian failure:HDL cholesterol:Chronic
kidney disease:Serum creatinine:Height:Late onset Alzheimer's disease:Gene
expression of DPAGT1 in blood:Gene expression of MIZF in blood:Gene
expression of PDZD3///CCDC153 in blood:Gene expression of C2CD2L in
blood:Gene expression of DPAGT1 in normal prepouch ileum |
|
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 |
119005132 |
2 |
HINFP |
C |
T |
exonic |
nonsynonymous SNV |
HINFP:NM_198971:exon10:c.C1478T:p.A493V,HINFP:NM_015517:exon11:c.C1478T:p.A493V |
|
11 |
119043656 |
2 |
NLRX1 |
C |
T |
exonic |
nonsynonymous SNV |
NLRX1:NM_001282143:exon4:c.C187T:p.P63S,NLRX1:NM_001282144:exon4:c.C187T:p.P63S,NLRX1:NM_001282358:exon4:c.C187T:p.P63S,NLRX1:NM_024618:exon4:c.C187T:p.P63S |
RS643423 |
HDL cholesterol:Total
cholesterol:Serum creatinine:Triglycerides:Height |
|
11 |
119052826 |
2 |
NLRX1 |
C |
A |
exonic |
nonsynonymous SNV |
NLRX1:NM_001282143:exon9:c.C2378A:p.A793E,NLRX1:NM_001282144:exon9:c.C2378A:p.A793E,NLRX1:NM_001282358:exon9:c.C2378A:p.A793E,NLRX1:NM_024618:exon9:c.C2378A:p.A793E |
RS4245191 |
HDL cholesterol:Total
cholesterol:Serum creatinine:Triglycerides:Height:Gene expression of DPAGT1
in normal prepouch ileum |
|
11 |
119206375 |
2 |
RNF26 |
G |
A |
exonic |
synonymous SNV |
RNF26:NM_032015:exon1:c.G543A:p.T181T |
RS2511841 |
Rheumatoid
arthritis:Triglycerides:Total cholesterol:LDL cholesterol:Plasma brain
natriuretic peptide (BNP):Gene expression of ABCG4 [probe ILMN_10212] in
osteoblasts treated with BMP2:Gene expression of NOD9 [probe ILMN_16473] in
osteoblasts treated with PGE2:Gene expression of ABCG4 [probe ILMN_10212] in
osteoblasts treated with bmp:Bipolar disorder:Variant Creutzfeldt-Jakob
disease:Tetrology of fallot:Transmission distortion |
|
11 |
121403229 |
2 |
SORL1 |
T |
C |
exonic |
synonymous SNV |
SORL1:NM_003105:exon12:c.T1653C:p.A551A |
|
11 |
124972208 |
2 |
TMEM218 |
A |
G |
exonic |
nonsynonymous SNV |
TMEM218:NM_001258239:exon3:c.T35C:p.L12S,TMEM218:NM_001258242:exon3:c.T35C:p.L12S,TMEM218:NM_001258246:exon3:c.T35C:p.L12S,TMEM218:NM_001258243:exon4:c.T35C:p.L12S |
RS14065 |
LDL cholesterol:Triglycerides
change with statins:Gene expression of SLC37A2 [transcript NM_001145290,
probe A_23_P86931] in liver:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Infant head circumference |
|
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 |
125766173 |
2 |
PUS3 |
A |
C |
exonic |
nonsynonymous SNV |
PUS3:NM_031307:exon2:c.T7G:p.Y3D |
RS622756 |
Salmonella-induced pyroptosis |
|
11 |
126081403 |
2 |
RPUSD4 |
T |
C |
exonic |
nonsynonymous SNV |
RPUSD4:NM_001144827:exon1:c.A131G:p.Q44R,RPUSD4:NM_032795:exon1:c.A131G:p.Q44R |
RS2282580 |
Gene expression of TIRAP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Tardive
dyskinesia:Major depressive disorder:Cystatin C in serum:Serum
creatinine:Gene expression of TIRAP in peripheral blood monocytes:Gene
expression of FOXRED1 in peripheral blood monocytes:Gene expression of RPUSD4
in peripheral blood monocytes:Partial epilepsy:Height:Gene expression of
TIRAP [transcript NM_148910, probe A_23_P202905] in liver:Gene expression of
FOXRED1 in blood:Bipolar disorder:Transmission distortion:Paternal
transmission distortion |
|
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 |
126277216 |
2 |
ST3GAL4 |
C |
T |
exonic |
synonymous SNV |
ST3GAL4:NM_001254759:exon3:c.C249T:p.Y83Y,ST3GAL4:NM_001254757:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001254758:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001348398:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_001348399:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001348400:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_006278:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_001348396:exon6:c.C315T:p.Y105Y,ST3GAL4:NM_001348397:exon6:c.C315T:p.Y105Y |
|
11 |
126278075 |
2 |
ST3GAL4 |
C |
T |
exonic |
synonymous SNV |
ST3GAL4:NM_001254759:exon5:c.C420T:p.Y140Y,ST3GAL4:NM_001254757:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001254758:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001348398:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_001348399:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001348400:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_006278:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_001348396:exon8:c.C486T:p.Y162Y,ST3GAL4:NM_001348397:exon8:c.C486T:p.Y162Y |
RS2230279 |
HDL cholesterol:Chronic kidney
disease:Sporadic Creutzfeldt-Jakob disease:Coronary artery disease (CAD) |
|
11 |
130750642 |
2 |
SNX19 |
A |
C |
exonic |
nonsynonymous SNV |
SNX19:NM_001347924:exon7:c.T653G:p.L218R,SNX19:NM_001347927:exon7:c.T353G:p.L118R,SNX19:NM_001347918:exon8:c.T2513G:p.L838R,SNX19:NM_001301089:exon9:c.T773G:p.L258R,SNX19:NM_001347923:exon9:c.T908G:p.L303R,SNX19:NM_014758:exon9:c.T2633G:p.L878R,SNX19:NM_001347922:exon10:c.T962G:p.L321R,SNX19:NM_001347925:exon10:c.T599G:p.L200R |
RS2298566 |
Schizophrenia:Differential exon
level expression of SNX19 [probe 3398525] in brain cortex:Gene expression of
SNX19 in CD4+ lymphocytes:Allergic rhinitis:Atopy:Resistance to kuru in aged
women despite likely exposure:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
11 |
130780015 |
2 |
SNX19 |
C |
T |
exonic |
synonymous SNV |
SNX19:NM_001301089:exon4:c.G72A:p.P24P,SNX19:NM_001347919:exon4:c.G1932A:p.P644P,SNX19:NM_001347920:exon4:c.G1932A:p.P644P,SNX19:NM_001347921:exon4:c.G1932A:p.P644P,SNX19:NM_001347923:exon4:c.G207A:p.P69P,SNX19:NM_001347926:exon4:c.G72A:p.P24P,SNX19:NM_014758:exon4:c.G1932A:p.P644P,SNX19:NM_001347922:exon5:c.G261A:p.P87P |
|
11 |
130780225 |
2 |
SNX19 |
C |
A |
exonic |
nonsynonymous SNV |
SNX19:NM_001347918:exon3:c.G1854T:p.L618F,SNX19:NM_001347919:exon3:c.G1854T:p.L618F,SNX19:NM_001347920:exon3:c.G1854T:p.L618F,SNX19:NM_001347921:exon3:c.G1854T:p.L618F,SNX19:NM_001347923:exon3:c.G129T:p.L43F,SNX19:NM_014758:exon3:c.G1854T:p.L618F,SNX19:NM_001347922:exon4:c.G183T:p.L61F |
|
11 |
130784754 |
2 |
SNX19 |
C |
G |
exonic |
nonsynonymous SNV |
SNX19:NM_001347918:exon1:c.G1081C:p.V361L,SNX19:NM_001347919:exon1:c.G1081C:p.V361L,SNX19:NM_001347920:exon1:c.G1081C:p.V361L,SNX19:NM_001347921:exon1:c.G1081C:p.V361L,SNX19:NM_014758:exon1:c.G1081C:p.V361L |
RS3751037 |
Total cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
11 |
130784971 |
2 |
SNX19 |
C |
G |
exonic |
synonymous SNV |
SNX19:NM_001347918:exon1:c.G864C:p.P288P,SNX19:NM_001347919:exon1:c.G864C:p.P288P,SNX19:NM_001347920:exon1:c.G864C:p.P288P,SNX19:NM_001347921:exon1:c.G864C:p.P288P,SNX19:NM_014758:exon1:c.G864C:p.P288P |
|
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 |
987482 |
2 |
WNK1 |
G |
A |
exonic |
synonymous SNV |
WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q |
RS1012729 |
Gene expression of RAD52 [probe
210630_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement
Scale:Lp-PLA2 mass:Gene expression of SERP1 in peripheral blood
monocytes:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (geographic atrophy) |
|
12 |
990912 |
2 |
WNK1 |
A |
C |
exonic |
nonsynonymous SNV |
WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P |
RS956868 |
LDL cholesterol:Total
cholesterol:Lp-PLA2 mass |
|
12 |
993930 |
2 |
WNK1 |
C |
T |
exonic |
synonymous SNV |
WNK1:NM_014823:exon17:c.C3219T:p.N1073N,WNK1:NM_001184985:exon19:c.C4740T:p.N1580N,WNK1:NM_018979:exon19:c.C3960T:p.N1320N,WNK1:NM_213655:exon19:c.C4716T:p.N1572N |
RS7300444 |
Gene expression of RAD52 [probe
210630_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Birth weight |
|
12 |
994487 |
2 |
WNK1 |
G |
C |
exonic |
nonsynonymous SNV |
WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S |
RS7955371 |
Triglycerides |
|
12 |
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 |
6933787 |
2 |
GPR162 |
A |
G |
exonic |
synonymous SNV |
GPR162:NM_019858:exon2:c.A723G:p.V241V |
|
12 |
7023123 |
2 |
LRRC23 |
A |
G |
exonic |
nonsynonymous SNV |
LRRC23:NM_006992:exon7:c.A827G:p.E276G |
RS710415 |
Gene expression of B7 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LRRC23 [probe
206076_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene
expression of SPSB2 in blood cells in Celiac disease:Gene expression of LRRC23
in blood cells in Celiac disease:Differential exon level expression of ENO2
[probe 3403016] in brain cortex:Gene expression of SPSB2 [probe ILMN_5003] in
osteoblasts:Gene expression of SPSB2 in peripheral blood monocytes:Gene
expression of LRRC23 in peripheral blood monocytes:Gene expression of LRRC23
in CD4+ lymphocytes:Gene expression of SPSB2 in CD4+ lymphocytes:Severe
diabetic retinopathy in type 1 diabetes:Severe diabetic retinopathy in type 1
diabetes (without nephropathy):Gene expression of C12orf57 in blood:Gene
expression of TPI1///SPSB2 in blood:Gene expression of GPR162 in blood:Gene
expression of LRRC23 in blood:Gene expression of ENO2///LRRC23 in blood:Gene
expression of SPSB2 [probeset 223580_at] in sputum:Gene expression of LRRC23
in liver:Gene expression of ATN1 in normal prepouch ileum:Gene expression of
LRRC23 (probeID ILMN_2314244) in cerebellum in non-Alzheimer's disease
samples:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of LRRC23 in normal
prepouch ileum:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal
cortex in Alzheimer's disease cases:Gene expression of LRRC23 (probeID
ILMN_2314244) in cerebellum in Progressive Supranuclear Palsy cases:Parkinson's
disease:Gene expression change of LRRC23 (ENSG00000010626) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of SPSB2
(ENSG00000111671) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of LRRC23
(probeID ILMN_2314244) in cerebellum in Alzheimer's disease cases and
controls:Hypertension (early onset hypertension):Gene expression of LRRC23
(probeID ILMN_2314244) in cerebellum in Alzheimer's disease cases:Obesity
with early age of onset (age >2) |
|
12 |
7867838 |
2 |
DPPA3 |
G |
A |
exonic |
nonsynonymous SNV |
DPPA3:NM_199286:exon2:c.G142A:p.A48T |
|
12 |
7867902 |
2 |
DPPA3 |
C |
A |
exonic |
nonsynonymous SNV |
DPPA3:NM_199286:exon2:c.C206A:p.A69E |
|
12 |
8926011 |
2 |
RIMKLB |
T |
C |
exonic |
synonymous SNV |
RIMKLB:NM_001297776:exon6:c.T792C:p.D264D,RIMKLB:NM_020734:exon6:c.T792C:p.D264D |
|
12 |
9248233 |
2 |
A2M |
T |
C |
exonic |
nonsynonymous SNV |
A2M:NM_001347425:exon15:c.A1465G:p.N489D,A2M:NM_000014:exon16:c.A1915G:p.N639D,A2M:NM_001347424:exon16:c.A1615G:p.N539D,A2M:NM_001347423:exon17:c.A1915G:p.N639D |
|
12 |
10999708 |
2 |
PRR4 |
T |
C |
exonic |
nonsynonymous SNV |
PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R |
RS1047699 |
Rheumatoid arthritis:Gene
expression of PRH1 in normal prepouch ileum:Gene expression of PRH1 (probeID
ILMN_2210534) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of PRR4 in normal
prepouch ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of PRH1 (probeID ILMN_2210534)
in cerebellum in Alzheimer's disease cases:Gene expression of PRH1 (probeID
ILMN_2210534) in temporal cortex in Alzheimer's disease cases:Gene expression
of PRH1 (probeID ILMN_2210534) in cerebellum in non-Alzheimer's disease
samples:Gene expression of TAS2R13 in normal prepouch ileum:Gene expression
of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R43 in normal
prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum
in Progressive Supranuclear Palsy cases:Gene expression of TAS2R31 in normal
prepouch ileum |
|
12 |
10999780 |
2 |
PRR4 |
C |
T |
exonic |
nonsynonymous SNV |
PRR4:NM_007244:exon3:c.G287A:p.R96Q |
RS1063193 |
Gene expression of PROL4 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Methylation levels at
chr12:11354646-11354696 [hg18 coord, probe cg14076161] in Temporal
cortex:Methylation levels at chr12:11399184-11399234 [hg18 coord, probe
cg04520391] in Temporal cortex:Methylation levels at chr12:11400800-11400850
[hg18 coord, probe cg27345534] in Temporal cortex:PROP taste detection
threshold:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of TAS2R46 in normal prepouch
ileum:Gene expression of TAS2R14 in normal prepouch ileum:Gene expression of
PRB4 in normal prepouch ileum:Gene expression of TAS2R14 (probeID
ILMN_1801349) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TAS2R19 in normal prepouch ileum:Gene expression of TAS2R14
(probeID ILMN_1801349) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TAS2R10 in normal prepouch ileum:Gene expression
of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R31 in normal
prepouch ileum:Gene expression of TAS2R20 in normal prepouch ileum:Gene
expression of PRR4 in normal prepouch ileum:Gene expression of PRH1 in normal
prepouch ileum:Gene expression of TAS2R9 in normal prepouch ileum:Advanced
age-related macular degeneration:Gene expression of TAS2R13 in normal
prepouch ileum |
12 |
11323994 |
2 |
SMIM10L1 |
G |
A |
exonic |
synonymous SNV |
SMIM10L1:NM_001271592:exon1:c.G39A:p.R13R |
|
12 |
12301898 |
2 |
LRP6 |
C |
T |
exonic |
nonsynonymous SNV |
LRP6:NM_002336:exon14:c.G3184A:p.V1062I |
RS2302685 |
Fasting blood glucose:Lp-PLA2
activity:Height |
|
12 |
13221606 |
2 |
FAM234B |
T |
C |
exonic |
synonymous SNV |
FAM234B:NM_020853:exon9:c.T1329C:p.D443D |
|
12 |
14688644 |
2 |
PLBD1 |
C |
T |
exonic |
nonsynonymous SNV |
PLBD1:NM_024829:exon6:c.G793A:p.V265I |
|
12 |
14720554 |
2 |
PLBD1 |
G |
T |
exonic |
nonsynonymous SNV |
PLBD1:NM_024829:exon1:c.C77A:p.P26Q |
|
12 |
14720583 |
2 |
PLBD1 |
T |
C |
exonic |
synonymous SNV |
PLBD1:NM_024829:exon1:c.A48G:p.P16P |
|
12 |
20766559 |
2 |
PDE3A |
C |
T |
exonic |
synonymous SNV |
PDE3A:NM_001244683:exon2:c.C228T:p.V76V,PDE3A:NM_000921:exon3:c.C1194T:p.V398V |
RS10743380 |
Eye color:Total cholesterol change
with statins |
|
12 |
27064232 |
2 |
INTS13 |
C |
T |
exonic |
synonymous SNV |
INTS13:NM_018164:exon15:c.G1824A:p.E608E |
RS3210635 |
HDL
cholesterol:Schizophrenia:Differential exon level expression of C12orf11
[probe 3448439] in peripheral blood mononuclear cells:Differential exon level
expression of C12orf11 [probe 3448439] in brain cortex:Fasting
insulin:HOMA-IR:HDL cholesterol change with statins:HDL
cholesterol:Height:Adiponectin levels:Gene expression of ITPR2
(ENSG00000123104) in dendritic cells treated with Mycobacterium
tuberculosis:Hypertension (early onset hypertension):Advanced age-related
macular degeneration (geographic atrophy) |
|
12 |
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 |
31253995 |
1 |
DDX11 |
C |
T |
exonic |
synonymous SNV |
DDX11:NM_001257144:exon20:c.C1983T:p.L661L,DDX11:NM_001257145:exon20:c.C1905T:p.L635L,DDX11:NM_004399:exon20:c.C1983T:p.L661L,DDX11:NM_030653:exon20:c.C1983T:p.L661L,DDX11:NM_152438:exon20:c.C1983T:p.L661L |
|
12 |
31255392 |
1 |
DDX11 |
G |
A |
exonic |
nonsynonymous SNV |
DDX11:NM_004399:exon22:c.G2153A:p.G718E,DDX11:NM_001257144:exon23:c.G2303A:p.G768E,DDX11:NM_001257145:exon23:c.G2225A:p.G742E,DDX11:NM_030653:exon23:c.G2303A:p.G768E,DDX11:NM_152438:exon23:c.G2303A:p.G768E |
|
12 |
31604928 |
1 |
DENND5B |
G |
C |
exonic |
synonymous SNV |
DENND5B:NM_144973:exon5:c.C1575G:p.A525A,DENND5B:NM_001308339:exon7:c.C1680G:p.A560A |
RS3205175 |
2 hour glucose:Chronic kidney
disease:Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in
Alzheimer's disease cases and controls:Obesity with early age of onset (age
>2):Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex
in Alzheimer's disease cases and controls |
|
12 |
31605044 |
1 |
DENND5B |
G |
T |
exonic |
nonsynonymous SNV |
DENND5B:NM_144973:exon5:c.C1459A:p.H487N,DENND5B:NM_001308339:exon7:c.C1564A:p.H522N |
RS1056320 |
Chronic kidney disease:Plasma
renin activity:Gene expression of MGC24039 [probe ILMN_24291] in untreated
osteoblasts:Gene expression of MGC24039 [probe ILMN_24291] in osteoblasts
treated with PGE2:Gene expression of MGC24039 [probe ILMN_24291] in osteoblasts
treated with dexamethasone:Gene expression of MGC24039 [probe ILMN_24291] in
osteoblasts treated with BMP2:Gene expression of MGC24039 in liver:Obesity
with early age of onset (age >2):Gene expression of DENND5B (probeID
ILMN_1791593) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of DENND5B (probeID ILMN_1791593) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of DENND5B (probeID
ILMN_1791593) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of DENND5B (probeID ILMN_1791593) in cerebellum in Alzheimer's
disease cases:Hypertension (early onset hypertension):Gene expression of
DENND5B (probeID ILMN_1791593) in cerebellum in non-Alzheimer's disease
samples:Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex
in Alzheimer's disease cases:Gene expression of DENND5B (probeID
ILMN_1791593) in temporal cortex in Progressive Supranuclear Palsy
cases:Advanced age-related macular degeneration (geographic atrophy) |
12 |
31648826 |
1 |
DENND5B |
C |
T |
exonic |
nonsynonymous SNV |
DENND5B:NM_144973:exon2:c.G155A:p.R52K,DENND5B:NM_001308339:exon4:c.G260A:p.R87K |
RS4930979 |
APOA1 (apolipoprotein AI):Childhood
acute lymphoblastic leukemia:HDL cholesterol change with
statins:Salmonella-induced pyroptosis |
|
12 |
32136750 |
1 |
KIAA1551 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA1551:NM_018169:exon4:c.T2861C:p.F954S |
|
12 |
32481093 |
2 |
BICD1 |
G |
C |
exonic |
synonymous SNV |
BICD1:NM_001003398:exon5:c.G1704C:p.V568V,BICD1:NM_001714:exon5:c.G1704C:p.V568V |
RS3748275 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Total cholesterol:Birth weight |
|
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 |
38712142 |
2 |
ALG10B |
C |
G |
exonic |
nonsynonymous SNV |
ALG10B:NM_001013620:exon2:c.C251G:p.A84G,ALG10B:NM_001308340:exon2:c.C251G:p.A84G |
|
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 |
49048738 |
2 |
KANSL2 |
G |
T |
exonic |
nonsynonymous SNV |
KANSL2:NM_017822:exon9:c.C1333A:p.P445T |
RS3741628 |
HDL cholesterol:Biploar disorder
(bipolar schizoaffective disorder):Gene expression of COL4A3BP in peripheral
blood monocytes:Gene expression of DNAJB14 in peripheral blood monocytes:Gene
expression of WHDC1 in peripheral blood monocytes:HDL cholesterol:PROP taste
detection threshold:Bipolar disorder:Gene expression of C12orf41 in normal
prepouch ileum:Adiponectin levels |
|
12 |
49086963 |
2 |
CCNT1 |
G |
A |
exonic |
synonymous SNV |
CCNT1:NM_001240:exon9:c.C2034T:p.P678P |
|
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 |
49522605 |
1 |
TUBA1B |
C |
T |
exonic |
synonymous SNV |
TUBA1B:NM_006082:exon4:c.G492A:p.K164K |
|
12 |
49666152 |
1 |
TUBA1C |
G |
A |
exonic |
synonymous SNV |
TUBA1C:NM_001303114:exon4:c.G702A:p.K234K,TUBA1C:NM_032704:exon4:c.G492A:p.K164K,TUBA1C:NM_001303116:exon5:c.G387A:p.K129K,TUBA1C:NM_001303117:exon5:c.G387A:p.K129K,TUBA1C:NM_001303115:exon6:c.G387A:p.K129K |
|
12 |
49666182 |
1 |
TUBA1C |
G |
A |
exonic |
synonymous SNV |
TUBA1C:NM_001303114:exon4:c.G732A:p.A244A,TUBA1C:NM_032704:exon4:c.G522A:p.A174A,TUBA1C:NM_001303116:exon5:c.G417A:p.A139A,TUBA1C:NM_001303117:exon5:c.G417A:p.A139A,TUBA1C:NM_001303115:exon6:c.G417A:p.A139A |
|
12 |
50189602 |
2 |
NCKAP5L |
A |
G |
exonic |
nonsynonymous SNV |
NCKAP5L:NM_001037806:exon8:c.T2041C:p.S681P |
|
12 |
50189807 |
2 |
NCKAP5L |
C |
A |
exonic |
synonymous SNV |
NCKAP5L:NM_001037806:exon8:c.G1836T:p.S612S |
RS2720298 |
Body mass index (BMI):Advanced
age-related macular degeneration:Years of education:College
completion:Advanced age-related macular degeneration (geographic
atrophy):Obesity with early age of onset (age >2) |
|
12 |
50189834 |
2 |
NCKAP5L |
T |
G |
exonic |
synonymous SNV |
NCKAP5L:NM_001037806:exon8:c.A1809C:p.V603V |
|
12 |
50190653 |
2 |
NCKAP5L |
C |
T |
exonic |
synonymous SNV |
NCKAP5L:NM_001037806:exon8:c.G990A:p.Q330Q |
RS3741555 |
Rheumatoid arthritis:Infant head
circumference:Adiponectin levels |
|
12 |
50190667 |
2 |
NCKAP5L |
A |
T |
exonic |
nonsynonymous SNV |
NCKAP5L:NM_001037806:exon8:c.T976A:p.L326M |
RS3741554 |
Rheumatoid arthritis:Adiponectin
levels:Prostate cancer:Infant head circumference |
|
12 |
50190920 |
1 |
NCKAP5L |
C |
T |
exonic |
synonymous SNV |
NCKAP5L:NM_001037806:exon8:c.G723A:p.A241A |
|
12 |
51135275 |
2 |
DIP2B |
T |
C |
exonic |
synonymous SNV |
DIP2B:NM_173602:exon37:c.T4431C:p.I1477I |
|
12 |
51442944 |
2 |
LETMD1 |
G |
A |
exonic |
nonsynonymous SNV |
LETMD1:NM_001351319:exon1:c.G82A:p.V28I,LETMD1:NM_001351320:exon1:c.G82A:p.V28I,LETMD1:NM_001351327:exon1:c.G82A:p.V28I,LETMD1:NM_001243689:exon2:c.G250A:p.V84I,LETMD1:NM_001300765:exon2:c.G250A:p.V84I,LETMD1:NM_001351312:exon2:c.G82A:p.V28I,LETMD1:NM_001351315:exon2:c.G271A:p.V91I,LETMD1:NM_001351316:exon2:c.G271A:p.V91I,LETMD1:NM_001351317:exon2:c.G250A:p.V84I,LETMD1:NM_001351318:exon2:c.G271A:p.V91I,LETMD1:NM_001351321:exon2:c.G250A:p.V84I,LETMD1:NM_001351325:exon2:c.G250A:p.V84I,LETMD1:NM_001351326:exon2:c.G82A:p.V28I,LETMD1:NM_001351328:exon2:c.G271A:p.V91I,LETMD1:NM_001351332:exon2:c.G250A:p.V84I,LETMD1:NM_001351333:exon2:c.G250A:p.V84I,LETMD1:NM_001351337:exon2:c.G250A:p.V84I,LETMD1:NM_015416:exon2:c.G250A:p.V84I |
RS12379 |
Celiac
disease:Triglycerides:Resistance to kuru in aged women despite likely
exposure:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset
hypertension):Gene expression of SLC11A2 in normal prepouch ileum |
|
12 |
52080965 |
2 |
SCN8A |
C |
T |
exonic |
synonymous SNV |
SCN8A:NM_001177984:exon5:c.C576T:p.D192D,SCN8A:NM_001330260:exon5:c.C576T:p.D192D,SCN8A:NM_014191:exon5:c.C576T:p.D192D |
RS4761829 |
LDL cholesterol:Serum
creatinine:Systolic blood pressure (SBP):Refractive error:College completion |
|
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 |
56815922 |
1 |
TIMELESS |
C |
T |
exonic |
nonsynonymous SNV |
TIMELESS:NM_001330295:exon20:c.G2489A:p.R830Q,TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q |
RS774047 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Childhood acute lymphoblastic
leukemia:Total cholesterol change with statins:Gene expression of RBMS2 in
peripheral blood monocytes:College completion:Years of education:Amyotrophic
lateral sclerosis (ALS) age of onset:Advanced age-related macular
degeneration (geographic atrophy) |
|
12 |
56822378 |
1 |
TIMELESS |
T |
A |
exonic |
nonsynonymous SNV |
TIMELESS:NM_001330295:exon12:c.A1360T:p.I454L,TIMELESS:NM_003920:exon12:c.A1363T:p.I455L |
RS774027 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with
statins:Years of education:Advanced age-related macular degeneration
(geographic atrophy) |
|
12 |
56825311 |
1 |
TIMELESS |
C |
T |
exonic |
synonymous SNV |
TIMELESS:NM_001330295:exon8:c.G762A:p.V254V,TIMELESS:NM_003920:exon8:c.G765A:p.V255V |
RS774033 |
Differential splicing of TIMELESS
[probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with
statins:Gene expression of RBMS2 in peripheral blood monocytes:Advanced
age-related macular degeneration (geographic atrophy):Amyotrophic lateral
sclerosis (ALS) age of onset:Years of education |
|
12 |
56827694 |
1 |
TIMELESS |
C |
G |
exonic |
synonymous SNV |
TIMELESS:NM_001330295:exon3:c.G114C:p.L38L,TIMELESS:NM_003920:exon3:c.G114C:p.L38L |
RS2279665 |
Irritible bowel
syndrome:Differential splicing of TIMELESS [probeset 3457837] in
lymphoblastoid cell lines:Total cholesterol change with statins:Gene
expression of RBMS2 in peripheral blood monocytes:Years of education:Advanced
age-related macular degeneration (geographic atrophy) |
|
12 |
56862886 |
2 |
SPRYD4 |
T |
C |
exonic |
nonsynonymous SNV |
SPRYD4:NM_207344:exon2:c.T149C:p.M50T |
|
12 |
56956213 |
2 |
RBMS2 |
T |
C |
exonic |
synonymous SNV |
RBMS2:NM_002898:exon2:c.T79C:p.L27L |
RS3759091 |
Serum creatinine:Gene expression of
SPRYD4 in peripheral blood monocytes:Gene expression of RBMS2 in peripheral
blood monocytes:Serum Gln:Serum Gln/Glc:Serum Ala/Gln |
|
12 |
57106660 |
1 |
NACA |
A |
T |
exonic |
synonymous SNV |
NACA:NM_001113201:exon7:c.T543A:p.I181I,NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001320193:exon7:c.T543A:p.I181I,NACA:NM_001320194:exon7:c.T543A:p.I181I,NACA:NM_005594:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I |
|
12 |
57108203 |
1 |
NACA |
A |
G |
exonic |
synonymous SNV |
NACA:NM_001113201:exon4:c.T177C:p.I59I,NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001320193:exon4:c.T177C:p.I59I,NACA:NM_001320194:exon4:c.T177C:p.I59I,NACA:NM_005594:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I |
|
12 |
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 |
58174306 |
2 |
EEF1AKMT3 |
T |
C |
exonic |
synonymous SNV |
EEF1AKMT3:NM_015433:exon3:c.T558C:p.H186H |
RS923829 |
Gene expression of DKFZP586D0919 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSFM [probe
212656_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting
insulin:Cystatin C in serum:Rheumatoid arthritis:Gene expression of
DKFZP586D0919 in Cerebellum:Gene expression of DKFZP586D0919 in Frontal
cortex:Gene expression of DKFZP586D0919 in Caudal pons:Height:Gene expression
of FAM119B (probeID ILMN_1723846) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of FAM119B (probeID ILMN_1723846) in whole
blood:Sarcoidosis:Gene expression of FAM119B (probeID ILMN_1723846) in
cerebellum in Alzheimer's disease cases and controls |
|
12 |
58176614 |
2 |
TSFM |
T |
C |
exonic |
synonymous SNV |
TSFM:NM_001172695:exon1:c.T30C:p.F10F,TSFM:NM_001172696:exon1:c.T30C:p.F10F,TSFM:NM_001172697:exon1:c.T30C:p.F10F,TSFM:NM_005726:exon1:c.T30C:p.F10F |
RS10747783 |
Gene expression of DKFZP586D0919 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TSFM [probe
212656_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting
insulin:Cystatin C in serum:Rheumatoid arthritis:Gene expression of DKFZP586D0919
in Cerebellum:Gene expression of DKFZP586D0919 in Frontal cortex:Gene
expression of DKFZP586D0919 in Caudal pons:Height:Gene expression of FAM119B
(probeID ILMN_1723846) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of FAM119B (probeID ILMN_1723846) in cerebellum in
Alzheimer's disease cases and controls |
|
12 |
58204283 |
2 |
AVIL |
T |
C |
exonic |
nonsynonymous SNV |
AVIL:NM_006576:exon6:c.A610G:p.K204E |
|
12 |
58350631 |
2 |
ATP23 |
C |
T |
exonic |
synonymous SNV |
ATP23:NM_001320409:exon5:c.C345T:p.H115H,ATP23:NM_001320408:exon6:c.C543T:p.H181H,ATP23:NM_033276:exon6:c.C699T:p.H233H,ATP23:NM_001320410:exon7:c.C345T:p.H115H |
RS10122 |
Gene expression of KUB3 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of XRCC6BP1 [probe
227678_at] in lymphoblastoid cell lines:Gene expression of XRCC6BP1 in blood
cells in Celiac disease:Differential exon level expression of XRCC6BP1 [probe
3418634] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1
[probe 3418610] in peripheral blood mononuclear cells:Gene expression of
XRCC6BP1 [probe ILMN_16915] in osteoblasts:2 hour glucose:Rheumatoid
arthritis:Gene expression of XRCC6BP1 in peripheral blood monocytes:Gene
expression of FAM119B in peripheral blood monocytes:Gene expression of
XRCC6BP1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of
TSFM in blood:Gene expression of XRCC6BP1 in blood:Gene expression of
FAM119B///TSFM in blood:Diastolic blood pressure (DBP):Gene expression of
XRCC6BP1 [probeset 227678_at] in sputum:Gene expression of XRCC6BP1 in
liver:Years of education |
|
12 |
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 |
64587633 |
2 |
C12orf66 |
C |
A |
exonic |
nonsynonymous SNV |
C12orf66:NM_001300940:exon3:c.G1327T:p.A443S,C12orf66:NM_001300941:exon3:c.G1168T:p.A390S,C12orf66:NM_152440:exon3:c.G1327T:p.A443S |
RS699638 |
Urinary albumin-to-creatinine ratio |
|
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 |
65563754 |
1 |
LEMD3 |
C |
T |
exonic |
synonymous SNV |
LEMD3:NM_001167614:exon1:c.C378T:p.S126S,LEMD3:NM_014319:exon1:c.C378T:p.S126S |
|
12 |
66546100 |
2 |
TMBIM4 |
A |
G |
exonic |
nonsynonymous SNV |
TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T,TMBIM4:NM_001282606:exon4:c.T404C:p.I135T |
RS8793 |
Gene expression of TMBIM4 [probe
219206_x_at] in lymphoblastoid cell lines:Gene expression of TMBIM4 [probe
3460593] in peripheral blood mononuclear cells:Differential exon level
expression of TMBIM4 [probe 3460596] in peripheral blood mononuclear cells:Gene
expression of TMBIM4 in CD4+ lymphocytes:Gene expression of TMBIM4 [probe
ILMN_22938] in osteoblasts treated with dexamethasone:Gene expression of
IRAK3 in blood:Gene expression of [probe 5720768 centered at chr12:64934553]
in blood:Gene expression of TMBIM4 [probeset 219206_x_at] in sputum:Sporadic
Creutzfeldt-Jakob disease:Gene expression of TMBIM4 in normal prepouch
ileum:Gene expression of TMBIM4 (probeID ILMN_1664750) in cerebellum in
Alzheimer's disease cases and controls |
|
12 |
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 |
72307616 |
2 |
TBC1D15 |
A |
G |
exonic |
synonymous SNV |
TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q |
RS3759171 |
Rheumatoid
arthritis:Schizophrenia:Cystatin C in serum:Waist hip ratio:Gene expression
of TBC1D15 in blood:Transmission distortion |
|
12 |
76449900 |
2 |
NAP1L1 |
T |
C |
exonic |
synonymous SNV |
NAP1L1:NM_001330232:exon5:c.A282G:p.K94K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K |
|
12 |
76453966 |
2 |
NAP1L1 |
G |
A |
exonic |
synonymous SNV |
NAP1L1:NM_001330232:exon3:c.C111T:p.H37H,NAP1L1:NM_001307924:exon5:c.C300T:p.H100H,NAP1L1:NM_001330231:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H |
|
12 |
79611374 |
2 |
SYT1 |
C |
T |
exonic |
synonymous SNV |
SYT1:NM_001135806:exon3:c.C75T:p.N25N,SYT1:NM_001291901:exon3:c.C75T:p.N25N,SYT1:NM_005639:exon4:c.C75T:p.N25N,SYT1:NM_001135805:exon5:c.C75T:p.N25N |
RS2037743 |
Adiponectin levels |
|
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 |
80190650 |
1 |
PPP1R12A |
C |
G |
exonic |
synonymous SNV |
PPP1R12A:NM_001244992:exon16:c.G2205C:p.L735L,PPP1R12A:NM_001143886:exon17:c.G2112C:p.L704L,PPP1R12A:NM_002480:exon17:c.G2373C:p.L791L,PPP1R12A:NM_001143885:exon18:c.G2373C:p.L791L,PPP1R12A:NM_001244990:exon18:c.G2373C:p.L791L |
RS2694657 |
HOMA-B:Fasting
insulin:HOMA-IR:Cystatin C in serum:Serum creatinine |
|
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 |
88440676 |
1 |
C12orf29 |
G |
C |
exonic |
nonsynonymous SNV |
C12orf29:NM_001009894:exon6:c.G712C:p.V238L |
RS9262 |
Gene expression of FLJ13615 in
CHB-JPT lymphoblastoid cell lines:LDL cholesterol |
|
12 |
89917518 |
2 |
GALNT4;POC1B-GALNT4 |
A |
G |
exonic |
nonsynonymous SNV |
GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T |
RS2230281 |
Triglycerides:Cystatin C in
serum:LDL cholesterol:Total cholesterol:Height:Coronary artery disease
(CAD):Adiponectin levels |
|
12 |
93196422 |
2 |
EEA1 |
T |
G |
exonic |
nonsynonymous SNV |
EEA1:NM_003566:exon19:c.A2428C:p.K810Q |
RS10745623 |
Height:Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
12 |
93202801 |
2 |
EEA1 |
C |
T |
exonic |
synonymous SNV |
EEA1:NM_003566:exon18:c.G2331A:p.E777E |
RS7970286 |
Paired associates learning total
errors 8 patterns:Partial epilepsy:Hypertension (early onset hypertension) |
|
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 |
94975799 |
1 |
TMCC3 |
G |
A |
exonic |
synonymous SNV |
TMCC3:NM_001301036:exon2:c.C501T:p.F167F,TMCC3:NM_020698:exon2:c.C594T:p.F198F |
RS3747553 |
Rheumatoid arthritis:Systolic blood
pressure (SBP):Parkinson's disease:Infant head circumference:Birth weight |
|
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 |
95694394 |
1 |
VEZT |
G |
A |
exonic |
nonsynonymous SNV |
VEZT:NM_017599:exon12:c.G2285A:p.G762D |
RS14121 |
Gene expression of VEZT [probe
ILMN_22823] in osteoblasts:LDL cholesterol:Total cholesterol:Gene expression
of VEZT in CD4+ lymphocytes:Gene expression of VEZT in blood:Gene expression
of VEZT (ENSG00000028203) in dendritic cells treated with Mycobacterium
tuberculosis:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Gene
expression of VEZT (ENSG00000028203) in dendritic cells |
|
12 |
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 |
101732655 |
1 |
UTP20 |
C |
T |
exonic |
synonymous SNV |
UTP20:NM_014503:exon31:c.C3933T:p.S1311S |
|
12 |
101732670 |
1 |
UTP20 |
C |
T |
exonic |
synonymous SNV |
UTP20:NM_014503:exon31:c.C3948T:p.S1316S |
|
12 |
101750814 |
2 |
UTP20 |
T |
A |
exonic |
nonsynonymous SNV |
UTP20:NM_014503:exon43:c.T5645A:p.L1882Q |
RS10082778 |
Total cholesterol:Parkinson's
disease |
|
12 |
101755809 |
1 |
UTP20 |
T |
C |
exonic |
synonymous SNV |
UTP20:NM_014503:exon44:c.T5761C:p.L1921L |
|
12 |
102117589 |
2 |
CHPT1 |
C |
T |
exonic |
synonymous SNV |
CHPT1:NM_020244:exon7:c.C1029T:p.N343N |
RS11082 |
LDL
cholesterol:Triglycerides:Fasting blood glucose |
|
12 |
102158763 |
2 |
GNPTAB |
T |
C |
exonic |
synonymous SNV |
GNPTAB:NM_024312:exon13:c.A1932G:p.T644T |
RS10778148 |
Gene expression of CHPT1 [probe
230364_at] in lymphoblastoid cell lines:Gene expression of CHPT1 [probe
221675_s_at] in lymphoblastoid cell lines |
|
12 |
102517804 |
1 |
PARPBP |
G |
A |
exonic |
synonymous SNV |
PARPBP:NM_001319988:exon2:c.G138A:p.A46A,PARPBP:NM_001319996:exon2:c.G138A:p.A46A,PARPBP:NM_017915:exon2:c.G138A:p.A46A |
RS2036771 |
Gene expression of CCDC53 [probe
218628_at] in lymphoblastoid cell lines:Panic disorder:HOMA-B:HOMA-IR:Fasting
insulin:Total cholesterol:LDL cholesterol:Gene expression of CCDC53 [probe
218628_at] in prefrontal cortex:Gene expression of CCDC53 in peripheral blood
monocytes:Total cholesterol:LDL cholesterol:Height:College completion |
|
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 |
106903321 |
2 |
POLR3B |
T |
C |
exonic |
synonymous SNV |
POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N |
RS13561 |
Gene expression of POLR3B in
liver:Simpson-Angus Scale:Height:Adiponectin levels |
|
12 |
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 |
109623516 |
2 |
ACACB |
G |
A |
exonic |
nonsynonymous SNV |
ACACB:NM_001093:exon11:c.G1951A:p.A651T |
RS2300455 |
Gene expression of SPIN2B in
peripheral blood monocytes:Gene expression of ACACB in peripheral blood
monocytes:Urinary albumin-to-creatinine ratio:Gene expression of ACACB in
blood:Hypertension (early onset hypertension):Years of education |
|
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 |
111884608 |
2 |
SH2B3 |
T |
C |
exonic |
nonsynonymous SNV |
SH2B3:NM_001291424:exon2:c.T178C:p.W60R,SH2B3:NM_005475:exon3:c.T784C:p.W262R |
RS3184504 |
Systemic lupus erythematosus (SLE)
(females):Celiac disease:Irritible bowel syndrome:LDL cholesterol:HDL
cholesterol:Blood eosinophil count:Myocardial infarction (MI):Red blood cell
count (RBC):Hemoglobin (Hb):Monocyte count:Hematocrit (Hct):Neutrophil count:Lymphocyte
count:Eosinophil count:Platelet count (PLT):White blood cell count
(WBC):Asthma (with atopy):Asthma:Hypertension:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Type 1 diabetes:Platelet count
(PLT):Coronary artery disease (CAD):Myocardial infarction (MI):Hematocrit
(Hct):Systolic blood pressure (SBP) and diastolic blood pressure
(DBP):Hemoglobin (Hb):Erythrocyte count:LDL cholesterol:LDL cholesterol
change with statins:Lymphocyte levels (CD4):Celiac disease:Cystatin C in serum:Serum
creatinine:Lp-PLA2 activity:Lp-PLA2 mass:Rheumatoid arthritis:Primary biliary
cirrhosis (antimitochondrial-antibody positive only):Primary biliary
cirrhosis:LDL cholesterol:Total cholesterol:HDL cholesterol:Selective
immunoglobulin A deficiency (IgAD):Systolic blood pressure (SBP):Body mass
index (BMI):Diastolic blood pressure (mean 24-hour):Systolic blood pressure
(SBP), 24 hour mean:Retinal venular caliber:Hematocrit (Hct):Hemoglobin
(Hb):Hypertension:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Coronary artery disease (CAD):Coronary artery disease (CAD) with age of
onset >50:Coronary artery disease (CAD) with age of onset <=50:Coronary
artery disease (CAD) (women):Coronary artery disease (CAD) (men):Myocardial
infarction (MI):Celiac disease:Rheumatoid arthritis and celiac
disease:Rheumatoid arthritis:Soluble intercellular adhesion molecule 1
(ICAM-1):Incident myocardial infarction (MI):AL049919 gene expression in
liver tissue:Gene expression of SH2B3///ATXN2 in blood:Gene expression of
UBE2L6 in blood:Gene expression of NALP12 in blood:Gene expression of [probe
6650035 centered at chr12:88628314] in blood:Gene expression of GBP2 in
blood:Gene expression of MEF2C in blood:Glutamate decarboxylase autoantibody
positive (GADA) Type 1 diabetes:Autoantigen thyroid peroxidase positive
(TPOA) Type 1 diabetes:Type 1 diabetes:Pulse pressure:Mean arterial
pressure:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Hypertension:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Gene expression of TCTN1 in blood:Gene expression of CUX2 in prefrontal
cortex:Gene expression of CUX2 in visual cortex:Type 1 diabetes:Celiac
disease:Diastolic blood pressure (DBP):Platelet count (PLT):Hemoglobin
(Hb):Red blood cell count (RBC):LDL cholesterol:Refractive error:Primary
biliary cirrhosis:Coronary artery disease (CAD) (males):Drug-induced liver
injury-all DILI cases presenting with any of three recorded extrahepatic
immuno-allergic features (eosinophilia, fever, and/or rash):Body mass index
(BMI):Coronary artery disease (CAD):Serum urate:Hemoglobin (Hb):Generalized
vitiligo:Total cholesterol:Primary sclerosing cholangitis:Type 2
diabetes:Total cholesterol:HDL cholesterol:Coronary artery disease (CAD)
(females):Hemoglobin (Hb) among individuals who do not have
B-thalassemia:Hypothyroidism:Coronary artery disease (CAD) age
>50:Tetrology of fallot:Platelet count:LDL cholesterol:Rheumatoid
factor-negative polyarticular juvenile idiopathic arthritis:LDL
cholesterol:Systolic blood pressure (SBP):Primary sclerosing
cholangitis:Oligoarticular juvenile idiopathic arthritis:Coronary artery
disease (CAD):Years of education:Red blood cell count (RBC):Hematocrit
(Hct):Plasma Beta-2 microglobulin levels:Drug-induced liver injury-all DILI
cases presenting with fever:Total cholesterol:Diastolic blood pressure
(DBP):Juvenile idiopathic arthritis (including oligoarticular and rheumatoid
factor-negative polyarticular JIA) |
|
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 |
112650383 |
1 |
HECTD4 |
G |
T |
exonic |
synonymous SNV |
HECTD4:NM_001109662:exon49:c.C7135A:p.R2379R |
|
12 |
112667675 |
2 |
HECTD4 |
T |
G |
exonic |
synonymous SNV |
HECTD4:NM_001109662:exon41:c.A5944C:p.R1982R |
RS1005902 |
Type 1 diabetes:LDL
cholesterol:Gene expression of ALDH2 in peripheral blood monocytes:Gene
expression of BZW2 in peripheral blood monocytes:Total cholesterol:LDL
cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP) |
|
12 |
112703732 |
1 |
HECTD4 |
A |
C |
exonic |
synonymous SNV |
HECTD4:NM_001109662:exon15:c.T2016G:p.A672A |
RS2301757 |
Alcohol consumption |
|
12 |
113796566 |
1 |
PLBD2 |
A |
C |
exonic |
nonsynonymous SNV |
PLBD2:NM_001159727:exon1:c.A161C:p.Q54P,PLBD2:NM_173542:exon1:c.A161C:p.Q54P |
|
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 |
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 |
120575549 |
2 |
GCN1 |
A |
C |
exonic |
nonsynonymous SNV |
GCN1:NM_006836:exon49:c.T6463G:p.Y2155D |
|
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 |
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 |
121017171 |
2 |
POP5 |
A |
G |
exonic |
synonymous SNV |
POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L |
RS7174 |
Gene expression of POP5 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Eye color:Waist hip ratio:Body mass
index (BMI):Neuroblastoma (brain cancer):Gene expression of GATC in
blood:Gene expression of COQ5 in blood:Gene expression of POP5 in
blood:College completion:Type 1 diabetes, end stage renal disease vs. normal
albuminuria:Years of education |
|
12 |
121437382 |
2 |
HNF1A |
A |
G |
exonic |
nonsynonymous SNV |
HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G |
|
12 |
122079441 |
2 |
ORAI1 |
T |
C |
exonic |
synonymous SNV |
ORAI1:NM_032790:exon2:c.T804C:p.T268T |
RS3825175 |
Obesity with early age of onset (age
>2) |
|
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 |
123645803 |
2 |
MPHOSPH9 |
G |
A |
exonic |
synonymous SNV |
MPHOSPH9:NM_022782:exon22:c.C3261T:p.Y1087Y |
RS1051431 |
Rheumatoid arthritis:Height:Body
mass index (BMI):Height (adult males):Height (adult females):Height
(adults):2-Hydroxyisobutyrate concentration:Diastolic blood pressure
(DBP):Gene expression of SETD8 in normal prepouch ileum:Advanced age-related
macular degeneration:Years of education:Infant head circumference:College
completion:Gene expression of C12orf65 in normal prepouch ileum:Advanced
age-related macular degeneration (geographic atrophy) |
|
12 |
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 |
124210782 |
2 |
ATP6V0A2 |
T |
C |
exonic |
synonymous SNV |
ATP6V0A2:NM_012463:exon5:c.T471C:p.S157S |
RS1399961 |
HDL cholesterol:Gene expression of
TCTN2 [probe 3435980] in brain cortex:Differential exon level expression of
TCTN2 [probe 3435996] in brain cortex:Differential exon level expression of
TCTN2 [probe 3435994] in brain cortex:Fasting insulin:HOMA-IR:HOMA-B:Methylation
levels at chr12:122762231-122762281 [hg18 coord, probe cg04140754] in Frontal
cortex:Methylation levels at chr12:122762231-122762281 [hg18 coord, probe
cg04140754] in Temporal cortex:Gene expression of ATP6V0A2 in normal prepouch
ileum:Adiponectin levels:Gene expression change of GTF2H3 (ENSG00000111358)
in dendritic cells after treatment with Mycobacterium tuberculosis:Gene
expression of TCTN2 in normal prepouch ileum |
|
12 |
125397750 |
2 |
UBC |
A |
G |
exonic |
nonsynonymous SNV |
UBC:NM_021009:exon2:c.T568C:p.S190P |
|
12 |
125448960 |
2 |
DHX37 |
C |
T |
exonic |
synonymous SNV |
DHX37:NM_032656:exon15:c.G2025A:p.T675T |
RS4076777 |
HDL cholesterol |
|
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 |
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 |
132446055 |
1 |
EP400 |
A |
G |
exonic |
synonymous SNV |
EP400:NM_015409:exon2:c.A891G:p.T297T |
|
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 |
133219831 |
2 |
POLE |
T |
C |
exonic |
synonymous SNV |
POLE:NM_006231:exon35:c.A4530G:p.A1510A |
RS5744944 |
LDL cholesterol:Chronic kidney
disease:Cystatin C in serum:Body mass index (BMI):Gene expression of POLE
(probeID ILMN_1728199) in cerebellum 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 temporal cortex in Alzheimer's disease cases and
controls:Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in
Alzheimer's disease cases and controls:Birth weight |
|
12 |
133236000 |
2 |
POLE |
C |
T |
exonic |
synonymous SNV |
POLE:NM_006231:exon26:c.G3156A:p.T1052T |
RS5744857 |
LDL cholesterol:Chronic kidney
disease:Cystatin C in serum:Body mass index (BMI):Gene expression of PXMP2
(probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in
Alzheimer's disease cases and controls:Birth weight:Gene expression of PXMP2
(probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in
Alzheimer's disease cases and controls |
|
12 |
133378440 |
2 |
GOLGA3 |
C |
T |
exonic |
synonymous SNV |
GOLGA3:NM_001172557:exon8:c.G1713A:p.L571L,GOLGA3:NM_005895:exon8:c.G1713A:p.L571L |
RS2291258 |
Stabilized warfarin
dose:Differential exon level expression of CHFR [probe 3479486] in brain
cortex:Premature ovarian failure:Suicide attempts in bipolar disorder
(males):Birth weight:Primary rhegmatogenous retinal detachment |
|
12 |
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 |
133587980 |
2 |
ZNF26 |
C |
T |
exonic |
synonymous SNV |
ZNF26:NM_001256280:exon3:c.C1419T:p.T473T,ZNF26:NM_019591:exon4:c.C1515T:p.T505T,ZNF26:NM_001256279:exon5:c.C1614T:p.T538T,ZNF26:NM_001330513:exon5:c.C1455T:p.T485T,ZNF26:NM_001330514:exon5:c.C1455T:p.T485T |
RS3825108 |
HOMA-B |
|
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 |
149931106 |
2 |
|
12 |
153222835 |
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 |
21154426 |
1 |
|
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 |
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 |
23911748 |
2 |
SACS |
C |
T |
exonic |
synonymous SNV |
SACS:NM_001278055:exon8:c.G5826A:p.S1942S,SACS:NM_014363:exon10:c.G6267A:p.S2089S |
|
13 |
23913827 |
2 |
SACS |
G |
A |
exonic |
synonymous SNV |
SACS:NM_001278055:exon8:c.C3747T:p.H1249H,SACS:NM_014363:exon10:c.C4188T:p.H1396H |
|
13 |
24243200 |
2 |
TNFRSF19 |
T |
C |
exonic |
synonymous SNV |
TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G |
|
13 |
24411772 |
2 |
MIPEP |
T |
C |
exonic |
nonsynonymous SNV |
MIPEP:NM_005932:exon13:c.A1462G:p.S488G |
|
13 |
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 |
25021200 |
2 |
PARP4 |
A |
C |
exonic |
nonsynonymous SNV |
PARP4:NM_006437:exon26:c.T3239G:p.L1080R |
|
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 |
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 |
32913055 |
2 |
BRCA2 |
A |
G |
exonic |
synonymous SNV |
BRCA2:NM_000059:exon11:c.A4563G:p.L1521L |
RS206075 |
LDL cholesterol:Total cholesterol |
|
13 |
32915005 |
2 |
BRCA2 |
G |
C |
exonic |
synonymous SNV |
BRCA2:NM_000059:exon11:c.G6513C:p.V2171V |
|
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 |
35615184 |
2 |
NBEA |
T |
G |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon2:c.T409G:p.W137G |
|
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 |
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 |
50283819 |
2 |
KPNA3 |
T |
C |
exonic |
synonymous SNV |
KPNA3:NM_002267:exon12:c.A921G:p.A307A |
RS17073322 |
LDL cholesterol |
|
13 |
50296115 |
2 |
KPNA3 |
C |
T |
exonic |
synonymous SNV |
KPNA3:NM_002267:exon9:c.G702A:p.P234P |
RS1127021 |
HDL cholesterol:Fat mass change
(kg/y) in children |
|
13 |
53035783 |
2 |
CKAP2 |
T |
C |
exonic |
synonymous SNV |
CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T |
|
13 |
53035925 |
2 |
CKAP2 |
A |
G |
exonic |
nonsynonymous SNV |
CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V |
|
13 |
73301728 |
2 |
MZT1 |
T |
C |
exonic |
nonsynonymous SNV |
MZT1:NM_001071775:exon1:c.A13G:p.S5G |
|
13 |
75884216 |
2 |
TBC1D4 |
C |
T |
exonic |
nonsynonymous SNV |
TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I |
RS1062087 |
Partial epilepsy:Neuroblastoma
(brain cancer):Late onset Alzheimer's disease:Allele-specific Expression
Patterns in human glioblastoma cell line U87MG |
|
13 |
75936519 |
2 |
TBC1D4 |
C |
G |
exonic |
synonymous SNV |
TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G |
|
13 |
76378459 |
2 |
LMO7 |
T |
C |
exonic |
synonymous SNV |
LMO7:NM_001306080:exon8:c.T696C:p.F232F,LMO7:NM_005358:exon9:c.T852C:p.F284F |
RS625033 |
LDL cholesterol |
|
13 |
76397731 |
1 |
LMO7 |
G |
A |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon12:c.G1972A:p.V658I,LMO7:NM_001330583:exon13:c.G1972A:p.V658I,LMO7:NM_005358:exon14:c.G1825A:p.V609I,LMO7:NM_001306080:exon15:c.G2671A:p.V891I |
RS4884021 |
LDL cholesterol:Cystatin C in
serum:Hypertension (early onset hypertension):Advanced age-related macular
degeneration (geographic atrophy) |
|
13 |
76423248 |
1 |
LMO7 |
T |
C |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_001330583:exon25:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T,LMO7:NM_001306080:exon27:c.T4184C:p.M1395T |
RS7986131 |
Eye color:Triglycerides:Late onset
Alzheimer's disease:College completion:Years of education:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
13 |
77574983 |
1 |
CLN5 |
A |
G |
exonic |
nonsynonymous SNV |
CLN5:NM_006493:exon4:c.A1103G:p.K368R |
RS1800209 |
Rheumatoid arthritis:Triglycerides
change with statins:HDL cholesterol:Microalbuminuria:Child behavior checklist
dysregulation profile in children with attention deficit/hyperactivity
disorder (ADHD) |
|
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 |
99100547 |
2 |
FARP1 |
T |
C |
exonic |
synonymous SNV |
FARP1:NM_005766:exon27:c.T3114C:p.S1038S,FARP1:NM_001286839:exon28:c.T3207C:p.S1069S |
RS12261 |
Spine bone mineral density
(BMD):Total cholesterol:Suicide attempts in bipolar disorder:Gene expression
of STK24 in blood:Parkinson's disease:College completion:Years of
education:Salmonella-induced pyroptosis:Refractive error |
|
13 |
99112680 |
2 |
STK24 |
C |
T |
exonic |
synonymous SNV |
STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P |
|
13 |
100518580 |
2 |
CLYBL |
A |
G |
exonic |
nonsynonymous SNV |
CLYBL:NM_206808:exon6:c.A721G:p.I241V |
RS3783185 |
Irritible bowel syndrome:Rheumatoid
arthritis:Schizophrenia:Fasting blood glucose:Gene expression of CLYBL in
peripheral blood monocytes:Gene expression of ZNF768 in peripheral blood
monocytes:Gene expression of XPA in peripheral blood monocytes:Autism:Gene
expression of CLYBL in blood:Birth weight:Primary rhegmatogenous retinal
detachment |
|
13 |
101287340 |
2 |
TMTC4 |
C |
T |
exonic |
nonsynonymous SNV |
TMTC4:NM_001286453:exon8:c.G922A:p.V308I,TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_001350577:exon10:c.G1249A:p.V417I,TMTC4:NM_001350572:exon11:c.G1255A:p.V419I,TMTC4:NM_001350574:exon11:c.G1429A:p.V477I,TMTC4:NM_001350576:exon11:c.G1306A:p.V436I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001350571:exon12:c.G1486A:p.V496I |
RS946837 |
Gene expression of TMTC4 [probe
1554101_a_at] in lymphoblastoid cell lines:Gene expression of TMTC4 [probe
1554102_a_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene
expression of TMTC4 in CD4+ lymphocytes:Gene expression of TMTC4 in blood:Gene
expression of TMTC4 [probeset 1554102_a_at] in sputum:Sporadic
Creutzfeldt-Jakob disease:Gene expression of TMTC4 in normal prepouch
ileum:Hypertension (early onset hypertension):Years of education |
|
13 |
101287365 |
2 |
TMTC4 |
T |
C |
exonic |
synonymous SNV |
TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A |
RS946838 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Mitral annular calcium |
|
13 |
103527849 |
2 |
BIVM-ERCC5;ERCC5 |
G |
C |
exonic |
nonsynonymous SNV |
ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R |
|
13 |
103527930 |
2 |
BIVM-ERCC5;ERCC5 |
G |
C |
exonic |
nonsynonymous SNV |
ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R |
|
13 |
111176393 |
2 |
RAB20 |
A |
G |
exonic |
synonymous SNV |
RAB20:NM_017817:exon2:c.T324C:p.F108F |
RS419244 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Premature ovarian failure:Fasting
blood glucose:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic
blood pressure (DBP):PROP taste detection threshold |
|
13 |
111319754 |
2 |
CARS2 |
T |
C |
exonic |
synonymous SNV |
CARS2:NM_024537:exon8:c.A852G:p.E284E |
|
13 |
111870037 |
2 |
ARHGEF7 |
T |
C |
exonic |
synonymous SNV |
ARHGEF7:NM_001320851:exon3:c.T9C:p.D3D,ARHGEF7:NM_001330598:exon3:c.T9C:p.D3D,ARHGEF7:NM_001113512:exon4:c.T393C:p.D131D,ARHGEF7:NM_001113513:exon4:c.T9C:p.D3D,ARHGEF7:NM_001320853:exon4:c.T234C:p.D78D,ARHGEF7:NM_003899:exon4:c.T9C:p.D3D,ARHGEF7:NM_001320852:exon5:c.T480C:p.D160D,ARHGEF7:NM_001330597:exon5:c.T9C:p.D3D,ARHGEF7:NM_145735:exon5:c.T480C:p.D160D,ARHGEF7:NM_001113511:exon6:c.T543C:p.D181D |
RS2296354 |
Eye
color:Schizophrenia:HOMA-B:HOMA-IR:Fasting insulin:Gene expression of ARHGEF7
in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of ARHGEF7
in blood:Diastolic blood pressure (DBP):Gene expression of ARHGEF7 (probeID
ILMN_1796912) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ARHGEF7 (probeID ILMN_1796912) in cerebellum in
Alzheimer's disease cases and controls:Mitral annular calcium |
|
13 |
113479820 |
2 |
ATP11A |
A |
G |
exonic |
nonsynonymous SNV |
ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V |
RS368865 |
Eye color:Stabilized warfarin
dose:Rheumatoid arthritis:Triglycerides change with statins:Total cholesterol
change with statins:Maternal transmission distortion:Transmission distortion |
|
13 |
113965176 |
2 |
LAMP1 |
C |
A |
exonic |
synonymous SNV |
LAMP1:NM_005561:exon4:c.C556A:p.R186R |
RS9577503 |
Cystatin C in serum |
|
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 |
20852029 |
1 |
TEP1 |
A |
G |
exonic |
nonsynonymous SNV |
TEP1:NM_001319035:exon23:c.T3259C:p.S1087P,TEP1:NM_007110:exon25:c.T3583C:p.S1195P |
RS1760904 |
Differential exon level expression
of PARP2 [probe 3527423] in brain cortex:Gene expression of CCNB1IP1 in
blood:Bipolar disorder |
|
14 |
20852817 |
1 |
TEP1 |
G |
A |
exonic |
nonsynonymous SNV |
TEP1:NM_001319035:exon20:c.C2839T:p.R947C,TEP1:NM_007110:exon22:c.C3163T:p.R1055C |
RS1760903 |
Bipolar disorder |
|
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 |
20920250 |
1 |
OSGEP |
T |
C |
exonic |
synonymous SNV |
OSGEP:NM_017807:exon3:c.A294G:p.Q98Q |
RS2275007 |
Gene expression of
NP///APEX1///TMEM55B in blood:Gene expression of OSGEP in blood:PROP taste
detection threshold:Variant Creutzfeldt-Jakob disease:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration:Gene expression of OSGEP (probeID ILMN_1753393) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of OSGEP (probeID
ILMN_1753393) in temporal cortex in Alzheimer's disease cases and
controls:Birth weight |
|
14 |
21899631 |
1 |
CHD8 |
C |
T |
exonic |
nonsynonymous SNV |
CHD8:NM_001170629:exon1:c.G172A:p.V58M |
RS10467770 |
Arthritis including
non-Rheumatoid:LDL cholesterol change with statins:Birth weight:Primary
rhegmatogenous retinal detachment:Gene expression change of SALL2
(ENSG00000165821) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
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 |
23282449 |
2 |
SLC7A7 |
C |
T |
exonic |
synonymous SNV |
SLC7A7:NM_001126105:exon3:c.G159A:p.S53S,SLC7A7:NM_001126106:exon3:c.G159A:p.S53S |
RS1805059 |
PROP taste detection
threshold:Mitral annular calcium |
|
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 |
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 |
24424346 |
1 |
DHRS4 |
G |
A |
exonic |
synonymous SNV |
DHRS4:NM_001282987:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282988:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282989:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282990:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282991:exon2:c.G231A:p.Q77Q,DHRS4:NM_021004:exon2:c.G231A:p.Q77Q |
|
14 |
24458162 |
2 |
DHRS4L2 |
G |
C |
exonic |
nonsynonymous SNV |
DHRS4L2:NM_198083:exon1:c.G6C:p.Q2H |
|
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 |
24587667 |
1 |
DCAF11 |
C |
T |
exonic |
synonymous SNV |
DCAF11:NM_001163484:exon7:c.C648T:p.D216D,DCAF11:NM_025230:exon7:c.C648T:p.D216D,DCAF11:NM_181357:exon7:c.C570T:p.D190D |
RS17101367 |
Mitral annular calcium |
|
14 |
24649669 |
1 |
IPO4 |
C |
T |
exonic |
synonymous SNV |
IPO4:NM_024658:exon30:c.G3225A:p.Q1075Q |
RS2273912 |
Childhood acute lymphoblastic
leukemia:Gene expression of IPO4 in peripheral blood monocytes:College
completion:Years of education |
|
14 |
24654489 |
1 |
IPO4 |
T |
C |
exonic |
synonymous SNV |
IPO4:NM_024658:exon14:c.A1308G:p.V436V |
RS2025258 |
Differential exon level expression
of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Total
cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Birth
weight:Tetrology of fallot:College completion:Years of education |
|
14 |
24702789 |
1 |
GMPR2 |
C |
T |
exonic |
synonymous SNV |
GMPR2:NM_001283022:exon2:c.C246T:p.A82A,GMPR2:NM_016576:exon2:c.C246T:p.A82A,GMPR2:NM_001002000:exon3:c.C192T:p.A64A,GMPR2:NM_001002001:exon3:c.C192T:p.A64A,GMPR2:NM_001002002:exon3:c.C192T:p.A64A,GMPR2:NM_001283023:exon3:c.C192T:p.A64A,GMPR2:NM_001351022:exon3:c.C192T:p.A64A,GMPR2:NM_001351023:exon3:c.C192T:p.A64A |
|
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 |
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 |
31598248 |
1 |
HECTD1 |
A |
G |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon25:c.T4329C:p.S1443S |
RS17097743 |
LDL cholesterol:Aortic valve
calcium:Parkinson's disease |
|
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 |
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 |
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 |
36789775 |
2 |
MBIP |
A |
T |
exonic |
nonsynonymous SNV |
MBIP:NM_001144891:exon1:c.T20A:p.L7H,MBIP:NM_001308110:exon1:c.T20A:p.L7H,MBIP:NM_016586:exon1:c.T20A:p.L7H |
RS2899849 |
Triglycerides change with statins |
|
14 |
38061742 |
2 |
FOXA1 |
C |
T |
exonic |
nonsynonymous SNV |
FOXA1:NM_004496:exon2:c.G247A:p.A83T |
RS7144658 |
Rheumatoid arthritis:Gene expression
of FOXA1 in CD4+ lymphocytes:Plasma renin activity |
|
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 |
39722023 |
1 |
MIA2 |
G |
C |
exonic |
nonsynonymous SNV |
MIA2:NM_001329214:exon5:c.G1639C:p.D547H,MIA2:NM_054024:exon5:c.G1639C:p.D547H |
RS10134365 |
LDL cholesterol change with
statins:LDL cholesterol change with statins:Total cholesterol change with
statins:Lp-PLA2 mass:Waist hip ratio:Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):College
completion |
|
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 |
50769717 |
1 |
L2HGDH |
G |
A |
exonic |
synonymous SNV |
L2HGDH:NM_024884:exon2:c.C159T:p.I53I |
RS2297995 |
Methylation levels at
chr14:49849865-49849915 [hg18 coord, probe cg15996947] in Temporal
cortex:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of L2HGDH in normal
prepouch ileum:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal
cortex in Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
14 |
50778816 |
1 |
L2HGDH |
A |
C |
exonic |
nonsynonymous SNV |
L2HGDH:NM_024884:exon1:c.T53G:p.L18R |
RS2275591 |
Gene expression of C14orf138 [probe
237640_at] in lymphoblastoid cell lines:Gene expression of ATP5S [probe
206993_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression
of CDKL1 in CD4+ lymphocytes:Gene expression of ATP5S in blood:Variant
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Gene expression of CDKL1 (probeID
ILMN_1724183) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of CDKL1 (probeID ILMN_1724183) in temporal cortex in Alzheimer's
disease cases and controls:Primary rhegmatogenous retinal detachment:Gene
expression of L2HGDH in normal prepouch ileum |
|
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 |
51446216 |
2 |
TRIM9 |
T |
G |
exonic |
nonsynonymous SNV |
TRIM9:NM_015163:exon9:c.A1959C:p.L653F |
RS2275462 |
Late onset Alzheimer's
disease:Comorbid depressive syndrome and alcohol dependence:Sporadic
Creutzfeldt-Jakob disease |
|
14 |
51716467 |
2 |
TMX1 |
G |
A |
exonic |
synonymous SNV |
TMX1:NM_030755:exon7:c.G648A:p.P216P |
|
14 |
52478315 |
2 |
NID2 |
A |
G |
exonic |
synonymous SNV |
NID2:NM_007361:exon17:c.T3507C:p.A1169A |
RS1051069 |
Triglycerides:Triglycerides:HDL
cholesterol:Sporadic Creutzfeldt-Jakob disease |
|
14 |
52507429 |
2 |
NID2 |
A |
G |
exonic |
nonsynonymous SNV |
NID2:NM_007361:exon8:c.T1966C:p.S656P |
RS3742536 |
Triglycerides:Height:Primary
rhegmatogenous retinal detachment:Birth weight |
|
14 |
52535648 |
2 |
NID2 |
G |
T |
exonic |
nonsynonymous SNV |
NID2:NM_007361:exon1:c.C65A:p.P22Q |
RS3920038 |
Schizophrenia:Total
cholesterol:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease |
|
14 |
52906081 |
1 |
TXNDC16 |
T |
G |
exonic |
synonymous SNV |
TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R |
RS2249922 |
Barnes Akathisia Rating Scale:HDL
cholesterol:Serum creatinine:Lp-PLA2 activity:Gene expression of ERO1L in
peripheral blood monocytes:Triglycerides:Paternal transmission distortion |
|
14 |
52907353 |
1 |
TXNDC16 |
C |
T |
exonic |
synonymous SNV |
TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q |
RS1952254 |
HDL cholesterol:Serum
creatinine:Triglycerides |
|
14 |
55643908 |
1 |
DLGAP5 |
A |
G |
exonic |
synonymous SNV |
DLGAP5:NM_001146015:exon8:c.T921C:p.F307F,DLGAP5:NM_014750:exon8:c.T921C:p.F307F |
RS10144326 |
Hip bone mineral density
(BMD):Height:Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob
disease:Circulating galectin-3 levels |
|
14 |
55655692 |
1 |
DLGAP5 |
C |
T |
exonic |
nonsynonymous SNV |
DLGAP5:NM_001146015:exon2:c.G206A:p.G69E,DLGAP5:NM_014750:exon2:c.G206A:p.G69E |
RS2274271 |
LDL cholesterol change with
statins:Height:Parkinson's disease:Circulating galectin-3 levels |
|
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 |
59939727 |
1 |
L3HYPDH |
T |
C |
exonic |
nonsynonymous SNV |
L3HYPDH:NM_001331158:exon5:c.A508G:p.I170V,L3HYPDH:NM_001331159:exon5:c.A508G:p.I170V,L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V |
RS8660 |
Gene expression of C14orf149
[probe 3566949] in peripheral blood mononuclear cells:Gene expression of
C14orf100 probe [GI_21361536-S] in brain cortex with no Alzheimer's
interaction:Premature ovarian failure:Gene expression of UBTD2 in peripheral
blood monocytes:Gene expression of DAAM1 in blood:Variant Creutzfeldt-Jakob
disease:Parkinson's disease:Gene expression of C14orf149 (probeID
ILMN_2053281) in cerebellum in Alzheimer's disease cases:Gene expression of
C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease
cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex
in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID
ILMN_2053281) in temporal cortex in Alzheimer's disease cases and controls:Gene
expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
C14orf149 (probeID ILMN_2053281) in cerebellum in non-Alzheimer's disease
samples:Gene expression of GPR135 in normal prepouch ileum:Gene expression of
C14orf38 in normal prepouch ileum:Obsessive-compulsive disorder (OCD) |
|
14 |
59950690 |
1 |
L3HYPDH |
A |
C |
exonic |
synonymous SNV |
L3HYPDH:NM_001331164:exon1:c.T345G:p.A115A,L3HYPDH:NM_144581:exon1:c.T345G:p.A115A |
RS2296842 |
Gene expression of C14orf100 in
CEU-CHB-JPT lymphoblastoid cell lines:Height:Adiponectin levels |
|
14 |
60581863 |
2 |
PCNX4 |
G |
A |
exonic |
synonymous SNV |
PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P |
RS219314 |
Triglycerides change with
statins:Aortic valve calcium:Obesity with early age of onset (age >2):Gene
expression of DHRS7 in normal prepouch ileum |
|
14 |
60581935 |
2 |
PCNX4 |
C |
T |
exonic |
synonymous SNV |
PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S |
RS150687 |
Triglycerides change with
statins:PROP taste detection threshold:Aortic valve calcium:Obesity with
early age of onset (age >2):Gene expression of DHRS7 in normal prepouch
ileum |
|
14 |
60582053 |
2 |
PCNX4 |
G |
A |
exonic |
nonsynonymous SNV |
PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I |
RS150688 |
Triglycerides change with
statins:Gene expression of C14orf135 (ENSG00000126773) in dendritic
cells:Gene expression of DHRS7 in normal prepouch ileum |
|
14 |
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 |
65008251 |
2 |
HSPA2 |
C |
T |
exonic |
synonymous SNV |
HSPA2:NM_021979:exon1:c.C684T:p.D228D |
RS1063391 |
Acute lung injury following major
trauma |
|
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 |
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 |
72055468 |
2 |
SIPA1L1 |
A |
C |
exonic |
synonymous SNV |
SIPA1L1:NM_001284247:exon1:c.A879C:p.S293S,SIPA1L1:NM_001284245:exon2:c.A879C:p.S293S,SIPA1L1:NM_001284246:exon2:c.A879C:p.S293S,SIPA1L1:NM_015556:exon2:c.A879C:p.S293S |
RS1859643 |
Fasting insulin:Bipolar disorder in
alcoholics:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Refractive error |
|
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 |
74061968 |
2 |
ACOT4 |
T |
C |
exonic |
synonymous SNV |
ACOT4:NM_152331:exon3:c.T876C:p.I292I |
RS2010070 |
Comorbid depressive syndrome and
alcohol dependence:Adiponectin levels:Gene expression of HEATR4 (probeID
ILMN_1765198) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of HEATR4 (probeID ILMN_1765198) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of HEATR4 in normal prepouch ileum |
|
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 |
75359670 |
2 |
DLST |
G |
A |
exonic |
synonymous SNV |
DLST:NM_001933:exon8:c.G576A:p.Q192Q |
|
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 |
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 |
78184566 |
2 |
SNW1 |
C |
A |
exonic |
nonsynonymous SNV |
SNW1:NM_001318844:exon13:c.G1556T:p.C519F |
|
14 |
78197365 |
2 |
SNW1 |
C |
T |
exonic |
synonymous SNV |
SNW1:NM_001318844:exon10:c.G999A:p.E333E,SNW1:NM_012245:exon10:c.G999A:p.E333E |
RS114763 |
HDL cholesterol change with
statins:Methylation levels at chr14:77295292-77295342 [hg18 coord, probe
cg13507326] in Temporal cortex:Methylation levels at chr14:77245223-77245273
[hg18 coord, probe cg20385229] in Temporal cortex:Methylation levels at chr14:77295292-77295342
[hg18 coord, probe cg13507326] in Caudal pons:Methylation levels at
chr14:77295292-77295342 [hg18 coord, probe cg13507326] in
Cerebellum:Methylation levels at chr14:77245223-77245273 [hg18 coord, probe
cg20385229] in Caudal pons:Methylation levels at chr14:77245223-77245273
[hg18 coord, probe cg20385229] in Frontal cortex:Methylation levels at
chr14:77295292-77295342 [hg18 coord, probe cg13507326] in Frontal cortex |
|
14 |
88401213 |
2 |
GALC |
T |
C |
exonic |
nonsynonymous SNV |
GALC:NM_001201401:exon16:c.A1852G:p.T618A,GALC:NM_000153:exon17:c.A1921G:p.T641A,GALC:NM_001201402:exon17:c.A1843G:p.T615A |
|
14 |
88407875 |
2 |
GALC |
T |
A |
exonic |
synonymous SNV |
GALC:NM_001201401:exon14:c.A1629T:p.V543V,GALC:NM_000153:exon15:c.A1698T:p.V566V,GALC:NM_001201402:exon15:c.A1620T:p.V540V |
|
14 |
88411947 |
2 |
GALC |
T |
C |
exonic |
synonymous SNV |
GALC:NM_001201401:exon13:c.A1551G:p.T517T,GALC:NM_000153:exon14:c.A1620G:p.T540T,GALC:NM_001201402:exon14:c.A1542G:p.T514T |
|
14 |
92441066 |
2 |
TRIP11 |
C |
T |
exonic |
nonsynonymous SNV |
TRIP11:NM_001321851:exon19:c.G5476A:p.G1826S,TRIP11:NM_004239:exon19:c.G5479A:p.G1827S |
RS1051340 |
Differential exon level expression
of TRIP11 [probe 3576822] in peripheral blood mononuclear cells:Differential
exon level expression of TRIP11 [probe 3576822] in brain cortex:Gene
expression of FBLN5 in CD4+ lymphocytes:Gene expression of TRIP11 in CD4+
lymphocytes:Sporadic Creutzfeldt-Jakob disease |
|
14 |
92537354 |
2 |
ATXN3 |
C |
G |
exonic |
nonsynonymous SNV |
ATXN3:NM_001164782:exon2:c.G68C:p.G23A,ATXN3:NM_001164774:exon3:c.G233C:p.G78A,ATXN3:NM_001164777:exon3:c.G113C:p.G38A,ATXN3:NM_001164776:exon4:c.G278C:p.G93A,ATXN3:NM_001164778:exon6:c.G431C:p.G144A,ATXN3:NM_001164779:exon6:c.G553C:p.G185R,ATXN3:NM_001164780:exon7:c.G379C:p.G127R,ATXN3:NM_001127697:exon8:c.G763C:p.G255R,ATXN3:NM_001164781:exon8:c.G706C:p.G236R,ATXN3:NM_001127696:exon9:c.G871C:p.G291R,ATXN3:NM_030660:exon9:c.G751C:p.G251R,ATXN3:NM_004993:exon10:c.G916C:p.G306R |
|
14 |
92548785 |
2 |
ATXN3 |
C |
T |
exonic |
nonsynonymous SNV |
ATXN3:NM_001164779:exon4:c.G271A:p.V91M,ATXN3:NM_001164780:exon5:c.G97A:p.V33M,ATXN3:NM_001127697:exon6:c.G481A:p.V161M,ATXN3:NM_001164781:exon6:c.G424A:p.V142M,ATXN3:NM_001127696:exon7:c.G589A:p.V197M,ATXN3:NM_030660:exon7:c.G469A:p.V157M,ATXN3:NM_004993:exon8:c.G634A:p.V212M |
RS1048755 |
Height:Stabilized warfarin
dose:Schizophrenia:Differential exon level expression of TRIP11 [probe
3576822] in peripheral blood mononuclear cells:Differential exon level
expression of TRIP11 [probe 3576822] in brain cortex:Tardive dyskinesia:HDL
cholesterol:Height:Body mass index (BMI):Gene expression of AL049872.3 in
blood:Gene expression of ATXN3 in blood:Gene expression of FBLN5 in
blood:Gene expression of TRIP11 in blood:Sporadic Creutzfeldt-Jakob
disease:Mitral annular calcium:All antimicrotubule drugs-induced
neutropenia/leukopenia in cancer patients |
|
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 |
96771959 |
2 |
ATG2B |
A |
G |
exonic |
nonsynonymous SNV |
ATG2B:NM_018036:exon31:c.T4700C:p.I1567T |
RS2289622 |
Eye color:Aortic valve calcium |
|
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 |
102550803 |
2 |
HSP90AA1 |
G |
A |
exonic |
synonymous SNV |
HSP90AA1:NM_005348:exon6:c.C1080T:p.N360N,HSP90AA1:NM_001017963:exon7:c.C1446T:p.N482N |
|
14 |
102568296 |
2 |
HSP90AA1 |
G |
A |
exonic |
synonymous SNV |
HSP90AA1:NM_001017963:exon2:c.C282T:p.T94T |
RS10873531 |
LDL cholesterol:2 hour
glucose:Serum creatinine:Body mass index (BMI):Bipolar disorder:Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
(geographic atrophy) |
|
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 |
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 |
103986255 |
2 |
CKB |
C |
T |
exonic |
synonymous SNV |
CKB:NM_001823:exon8:c.G1092A:p.E364E |
RS1803283 |
Serum creatinine:Cystatin C in
serum:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Femoral
neck bone mineral density (BMD):Gene expression of MARK3 in normal prepouch
ileum:Mitral annular calcium:Lumbar spine bone mineral density (BMD) |
|
14 |
103988180 |
2 |
CKB |
G |
T |
exonic |
synonymous SNV |
CKB:NM_001823:exon4:c.C456A:p.R152R |
|
14 |
103996396 |
2 |
TRMT61A |
G |
A |
exonic |
synonymous SNV |
TRMT61A:NM_152307:exon2:c.G81A:p.A27A |
|
14 |
104194196 |
2 |
ZFYVE21 |
C |
G |
exonic |
synonymous SNV |
ZFYVE21:NM_001198953:exon3:c.C303G:p.L101L,ZFYVE21:NM_024071:exon3:c.C303G:p.L101L |
RS1535100 |
Diastolic blood pressure (DBP) |
|
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 |
105609335 |
2 |
JAG2 |
A |
G |
exonic |
synonymous SNV |
JAG2:NM_145159:exon25:c.T3300C:p.I1100I,JAG2:NM_002226:exon26:c.T3414C:p.I1138I |
|
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 |
|
14 |
105930406 |
2 |
MTA1 |
G |
A |
exonic |
nonsynonymous SNV |
MTA1:NM_001203258:exon13:c.G1114A:p.V372I,MTA1:NM_004689:exon13:c.G1114A:p.V372I |
RS4983413 |
Celiac disease:Stabilized warfarin
dose:Premature ovarian failure:Barnes Akathisia Rating Scale:HOMA-IR:Fasting
blood glucose:Fasting insulin:Partial epilepsy:Gene expression of PACS2
[transcript NM_015197, probe A_24_P255628] in liver:CRIP2 gene expression:Gene
expression of CRIP2 in blood:Gene expression of CRIP2 (ENSG00000182809) in
dendritic cells:Gene expression change of MTA1 (ENSG00000182979) in dendritic
cells after treatment with Mycobacterium tuberculosis:Gene expression of
CRIP1 (ENSG00000213145) in dendritic cells:Gene expression change of CRIP2
(ENSG00000182809) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
14 |
153218365 |
2 |
|
15 |
21154466 |
2 |
|
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 |
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 |
30008889 |
2 |
TJP1 |
G |
A |
exonic |
synonymous SNV |
TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_001301026:exon23:c.C3900T:p.A1300A,TJP1:NM_001330239:exon23:c.C4128T:p.A1376A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A,TJP1:NM_001301025:exon24:c.C4329T:p.A1443A |
RS2229518 |
Serum creatinine:HDL
cholesterol:Triglycerides:Refractive error |
|
15 |
31197564 |
2 |
FAN1 |
G |
A |
exonic |
nonsynonymous SNV |
FAN1:NM_001146094:exon2:c.G698A:p.G233E,FAN1:NM_001146095:exon2:c.G698A:p.G233E,FAN1:NM_001146096:exon2:c.G698A:p.G233E,FAN1:NM_014967:exon2:c.G698A:p.G233E |
RS4779794 |
Barnes Akathisia Rating
Scale:Triglycerides change with statins:Nonalcoholic fatty liver disease
(FibrosisYN):Cortisol secretion (cortisol AUC in females):Gene expression of
[probe 7560669 centered at chr15:28959523] in blood:Gene expression of MTMR15
in blood:Gene expression of MTMR15///MTMR10 in blood:Gene expression of
MTMR15 [probeset 203678_at] in sputum:Hypertension (early onset
hypertension):Tetrology of fallot |
|
15 |
31229420 |
2 |
FAN1 |
T |
C |
exonic |
synonymous SNV |
FAN1:NM_014967:exon14:c.T3015C:p.H1005H |
|
15 |
35149008 |
2 |
AQR |
C |
T |
exonic |
synonymous SNV |
AQR:NM_014691:exon35:c.G4443A:p.P1481P |
|
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 |
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 |
42026764 |
2 |
MGA |
C |
T |
exonic |
synonymous SNV |
MGA:NM_001080541:exon12:c.C3888T:p.D1296D,MGA:NM_001164273:exon12:c.C3888T:p.D1296D |
RS1918314 |
Total cholesterol:Body mass index
(BMI):Diastolic blood pressure (DBP):Infant head circumference |
|
15 |
42041712 |
2 |
MGA |
G |
A |
exonic |
synonymous SNV |
MGA:NM_001080541:exon16:c.G5280A:p.K1760K,MGA:NM_001164273:exon17:c.G5907A:p.K1969K |
RS2695163 |
Total cholesterol:Body mass index
(BMI):Hypertension (early onset hypertension):Infant head circumference |
|
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 |
44943757 |
2 |
SPG11 |
A |
G |
exonic |
nonsynonymous SNV |
SPG11:NM_001160227:exon6:c.T1388C:p.F463S,SPG11:NM_025137:exon6:c.T1388C:p.F463S |
RS3759871 |
Alcohol dependence:Gene expression
of [probe 4230056 centered at chr15:42745973] in blood:Transmission
distortion:Advanced age-related macular degeneration (geographic
atrophy):Gene expression change of B2M (ENSG00000166710) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of SPG11
(ENSG00000104133) in dendritic cells |
|
15 |
45364534 |
2 |
SORD |
A |
C |
exonic |
nonsynonymous SNV |
SORD:NM_003104:exon8:c.A806C:p.N269T |
|
15 |
45467541 |
2 |
SHF |
G |
A |
exonic |
synonymous SNV |
SHF:NM_001301168:exon3:c.C723T:p.T241T,SHF:NM_001301169:exon3:c.C723T:p.T241T,SHF:NM_001301170:exon3:c.C723T:p.T241T,SHF:NM_001301171:exon3:c.C117T:p.T39T,SHF:NM_138356:exon4:c.C528T:p.T176T |
|
15 |
45695382 |
2 |
SPATA5L1 |
G |
A |
exonic |
nonsynonymous SNV |
SPATA5L1:NM_001323640:exon1:c.G755A:p.R252Q,SPATA5L1:NM_024063:exon1:c.G755A:p.R252Q |
|
15 |
45695695 |
2 |
SPATA5L1 |
G |
A |
exonic |
synonymous SNV |
SPATA5L1:NM_001323640:exon1:c.G1068A:p.R356R,SPATA5L1:NM_024063:exon1:c.G1068A:p.R356R |
RS1153849 |
Serum creatinine estimated
glomerular filtration rate (eGFR):Chronic kidney disease:Serum
creatinine:Gene expression of SPATA5L1 in normal prepouch ileum |
|
15 |
48460314 |
2 |
|
15 |
48807637 |
2 |
FBN1 |
C |
T |
exonic |
nonsynonymous SNV |
FBN1:NM_000138:exon12:c.G1415A:p.C472Y |
|
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 |
51294832 |
2 |
AP4E1 |
G |
A |
exonic |
synonymous SNV |
AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q |
RS3825798 |
Alzheimer's disease:Total
cholesterol:Serum creatinine:Chronic kidney disease:Autism with low
IQ:Height:Waist hip ratio:Gene expression of SPPL2A [probe ILMN_27275] in
osteoblasts treated with PGE2:Diastolic blood pressure (DBP):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Infant head
circumference:Parkinson's disease |
|
15 |
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 |
52901283 |
2 |
FAM214A |
T |
C |
exonic |
nonsynonymous SNV |
FAM214A:NM_001286495:exon5:c.A1849G:p.T617A,FAM214A:NM_019600:exon6:c.A1828G:p.T610A |
|
15 |
52901284 |
2 |
FAM214A |
T |
C |
exonic |
synonymous SNV |
FAM214A:NM_001286495:exon5:c.A1848G:p.S616S,FAM214A:NM_019600:exon6:c.A1827G:p.S609S |
|
15 |
55619796 |
2 |
PIGB |
T |
C |
exonic |
nonsynonymous SNV |
PIGB:NM_004855:exon4:c.T485C:p.M162T |
RS2290344 |
Schizophrenia:Gemcitabine toxicity
as measured by gemcitabine IC50 in lymphoblastoid cell lines:PIGB gene
expression in lymphoblastoid cell lines |
|
15 |
55632859 |
2 |
PIGB |
G |
T |
exonic |
nonsynonymous SNV |
PIGB:NM_004855:exon8:c.G896T:p.W299L |
RS678892 |
Hip bone mineral density (BMD):HDL
cholesterol change with statins:Triglycerides change with statins:Hemoglobin
(Hb):Gene expression of PIGB in CD4+ lymphocytes:Gene expression of
PIGB///CCPG1 in blood:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Primary
rhegmatogenous retinal detachment |
|
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 |
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 |
57731728 |
2 |
CGNL1 |
A |
G |
exonic |
nonsynonymous SNV |
CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A |
RS1280396 |
Variant Creutzfeldt-Jakob
disease:Obesity with early age of onset (age >2):Hepatitis C virus
(HCV)-induced liver fibrosis:Longevity (exceptional longevity) |
|
15 |
57967219 |
2 |
GCOM1;MYZAP |
T |
C |
exonic |
synonymous SNV |
MYZAP:NM_152451:exon11:c.T1173C:p.T391T,GCOM1:NM_001018090:exon12:c.T1257C:p.T419T,GCOM1:NM_001018091:exon12:c.T1257C:p.T419T,MYZAP:NM_001018100:exon12:c.T1257C:p.T419T,GCOM1:NM_001285900:exon12:c.T1257C:p.T419T |
|
15 |
63009804 |
2 |
TLN2 |
C |
T |
exonic |
synonymous SNV |
TLN2:NM_015059:exon21:c.C2793T:p.A931A |
|
15 |
63351840 |
2 |
TPM1 |
C |
A |
exonic |
synonymous SNV |
TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A |
RS1071646 |
HDL cholesterol:Total
cholesterol:Chronic kidney disease:Serum creatinine:Triglycerides:HDL
cholesterol:Height:Gene expression of TPM1 in blood:Gene expression of LACTB
in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar
disorder:Parkinson's disease:College completion |
|
15 |
63414083 |
2 |
LACTB |
A |
C |
exonic |
nonsynonymous SNV |
LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L |
|
15 |
63433766 |
2 |
LACTB |
G |
A |
exonic |
nonsynonymous SNV |
LACTB:NM_032857:exon6:c.G1406A:p.R469K |
RS2729835 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:Serum creatinine:Chronic kidney
disease:Cystatin C in serum:Gene expression of LACTB in peripheral blood
monocytes:Triglycerides:HDL cholesterol:Height:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of LACTB in blood:Diastolic blood
pressure (DBP):Prostate cancer:Parkinson's disease:Gene expression of LACTB
(ENSG00000103642) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of LACTB in normal prepouch ileum:Obesity with
early age of onset (age >2) |
|
15 |
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 |
64915106 |
2 |
ZNF609 |
C |
T |
exonic |
synonymous SNV |
ZNF609:NM_015042:exon2:c.C828T:p.P276P |
|
15 |
65157482 |
2 |
PLEKHO2 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHO2:NM_001195059:exon5:c.C718T:p.P240S,PLEKHO2:NM_025201:exon6:c.C868T:p.P290S |
RS2010875 |
HOMA-B:Fasting blood glucose:HDL
cholesterol:LDL cholesterol:Infant head circumference |
|
15 |
66644521 |
2 |
TIPIN |
C |
G |
exonic |
nonsynonymous SNV |
TIPIN:NM_017858:exon3:c.G158C:p.R53P |
|
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 |
67692502 |
2 |
IQCH |
T |
C |
exonic |
synonymous SNV |
IQCH:NM_001284347:exon9:c.T927C:p.R309R,IQCH:NM_001322471:exon9:c.T927C:p.R309R,IQCH:NM_001322470:exon10:c.T1164C:p.R388R,IQCH:NM_001322473:exon10:c.T1164C:p.R388R,IQCH:NM_001284348:exon11:c.T939C:p.R313R,IQCH:NM_001322475:exon11:c.T1164C:p.R388R,IQCH:NM_001031715:exon14:c.T1956C:p.R652R |
|
15 |
68583175 |
2 |
FEM1B |
T |
C |
exonic |
synonymous SNV |
FEM1B:NM_015322:exon2:c.T1479C:p.N493N |
|
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 |
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 |
72432583 |
2 |
SENP8 |
A |
G |
exonic |
nonsynonymous SNV |
SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A |
|
15 |
72637795 |
2 |
HEXA |
T |
C |
exonic |
synonymous SNV |
HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E |
|
15 |
72638892 |
2 |
HEXA |
T |
C |
exonic |
nonsynonymous SNV |
HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V |
|
15 |
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 |
73048652 |
1 |
ADPGK |
G |
A |
exonic |
synonymous SNV |
ADPGK:NM_031284:exon5:c.C780T:p.L260L |
|
15 |
73067234 |
2 |
ADPGK |
T |
C |
exonic |
synonymous SNV |
ADPGK:NM_031284:exon2:c.A438G:p.A146A |
RS11634630 |
Illegal drug dependence |
|
15 |
75498548 |
2 |
C15orf39 |
A |
G |
exonic |
synonymous SNV |
C15orf39:NM_015492:exon2:c.A159G:p.A53A |
|
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 |
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 |
78841220 |
2 |
PSMA4 |
T |
C |
exonic |
synonymous SNV |
PSMA4:NM_001102668:exon8:c.T507C:p.H169H,PSMA4:NM_001102667:exon9:c.T720C:p.H240H,PSMA4:NM_001330675:exon9:c.T627C:p.H209H,PSMA4:NM_001330676:exon9:c.T720C:p.H240H,PSMA4:NM_002789:exon9:c.T720C:p.H240H |
RS8053 |
Chronic obstructive pulmonary
disease (COPD):Methylation levels at chr15:76644004-76644054 [hg18 coord,
probe cg22563815] in Caudal pons:Salmonella-induced pyroptosis |
|
15 |
79606137 |
2 |
TMED3 |
G |
A |
exonic |
synonymous SNV |
TMED3:NM_001301203:exon2:c.G207A:p.V69V,TMED3:NM_001330376:exon2:c.G207A:p.V69V,TMED3:NM_007364:exon2:c.G207A:p.V69V |
|
15 |
79614418 |
2 |
TMED3 |
A |
G |
exonic |
synonymous SNV |
TMED3:NM_007364:exon3:c.A516G:p.A172A |
|
15 |
89169614 |
2 |
AEN |
A |
G |
exonic |
synonymous SNV |
AEN:NM_022767:exon2:c.A174G:p.E58E |
RS3743476 |
Height |
|
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 |
89838236 |
2 |
FANCI |
G |
A |
exonic |
synonymous SNV |
FANCI:NM_001113378:exon24:c.G2547A:p.K849K |
|
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 |
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 |
91525197 |
2 |
PRC1 |
C |
T |
exonic |
synonymous SNV |
PRC1:NM_001267580:exon3:c.G159A:p.T53T,PRC1:NM_003981:exon4:c.G282A:p.T94T,PRC1:NM_199413:exon4:c.G282A:p.T94T |
RS2301826 |
Spine bone mineral density
(BMD):Schizophrenia:LDL cholesterol change with statins:Gene expression of
RCCD1 in peripheral blood monocytes:Gene expression of UNC45A in peripheral
blood monocytes:HDL cholesterol:Total cholesterol:Gene expression of RCCD1 in
CD4+ lymphocytes:Gene expression of RCCD1 in blood:Gene expression of VPS33B
in blood:Type 2 diabetes:Tetrology of fallot |
|
15 |
91543761 |
2 |
VPS33B |
C |
T |
exonic |
nonsynonymous SNV |
VPS33B:NM_001289148:exon19:c.G1459A:p.G487S,VPS33B:NM_001289149:exon19:c.G1267A:p.G423S,VPS33B:NM_018668:exon20:c.G1540A:p.G514S |
RS11073964 |
LDL cholesterol change with
statins:HDL cholesterol:Gene expression of RCCD1 in peripheral blood
monocytes:Aortic valve calcium |
|
15 |
93510603 |
2 |
CHD2 |
A |
G |
exonic |
synonymous SNV |
CHD2:NM_001271:exon17:c.A2049G:p.E683E |
RS4777755 |
Total cholesterol change with
statins:Rheumatoid arthritis:Total cholesterol:College completion |
|
15 |
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 |
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 |
100269796 |
2 |
LYSMD4 |
A |
G |
exonic |
synonymous SNV |
LYSMD4:NM_001284420:exon2:c.T240C:p.S80S,LYSMD4:NM_001284417:exon3:c.T423C:p.S141S,LYSMD4:NM_001284418:exon3:c.T423C:p.S141S,LYSMD4:NM_001284421:exon4:c.T45C:p.S15S,LYSMD4:NM_001284419:exon5:c.T411C:p.S137S,LYSMD4:NM_001284422:exon5:c.T45C:p.S15S,LYSMD4:NM_152449:exon6:c.T426C:p.S142S |
|
15 |
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 |
102224341 |
2 |
TARSL2 |
G |
A |
exonic |
synonymous SNV |
TARSL2:NM_152334:exon12:c.C1587T:p.S529S |
RS12901450 |
HOMA-B:HDL cholesterol:Systolic
blood pressure (SBP) |
|
15 |
129147079 |
2 |
|
16 |
103517 |
2 |
POLR3K |
A |
C |
exonic |
nonsynonymous SNV |
POLR3K:NM_016310:exon1:c.T70G:p.S24A |
|
16 |
570557 |
2 |
RAB11FIP3 |
T |
C |
exonic |
synonymous SNV |
RAB11FIP3:NM_001142272:exon11:c.T1227C:p.S409S,RAB11FIP3:NM_014700:exon13:c.T2115C:p.S705S |
|
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 |
705360 |
2 |
WDR90 |
T |
C |
exonic |
nonsynonymous SNV |
WDR90:NM_145294:exon15:c.T1610C:p.V537A |
|
16 |
705844 |
2 |
WDR90 |
T |
C |
exonic |
synonymous SNV |
WDR90:NM_145294:exon17:c.T1921C:p.L641L |
|
16 |
715990 |
2 |
WDR90 |
G |
A |
exonic |
nonsynonymous SNV |
WDR90:NM_145294:exon36:c.G4475A:p.R1492H |
|
16 |
717523 |
2 |
WDR90 |
G |
T |
exonic |
synonymous SNV |
WDR90:NM_145294:exon41:c.G5181T:p.P1727P |
RS3752493 |
Differential exon level expression
of LOC339123 [probe 3675270] in brain cortex:Asthma:Height:Gene
expression:Gene expression of AL022341.1///WDR90 in blood:Gene expression of
WFIKKN1///C16orf13 in blood:Gene expression of FAM173A///CCDC78 in
blood:Diastolic blood pressure (DBP):Gene expression change of WDR24
(ENSG00000127580) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
16 |
722331 |
2 |
RHOT2 |
C |
T |
exonic |
nonsynonymous SNV |
RHOT2:NM_138769:exon15:c.C1273T:p.R425C |
|
16 |
722548 |
2 |
RHOT2 |
A |
G |
exonic |
synonymous SNV |
RHOT2:NM_138769:exon16:c.A1386G:p.G462G |
|
16 |
839262 |
2 |
CHTF18 |
A |
G |
exonic |
synonymous SNV |
CHTF18:NM_022092:exon3:c.A339G:p.R113R |
|
16 |
1261219 |
2 |
CACNA1H |
A |
G |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon22:c.A4275G:p.S1425S,CACNA1H:NM_021098:exon22:c.A4275G:p.S1425S |
|
16 |
1261222 |
2 |
CACNA1H |
A |
G |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon22:c.A4278G:p.S1426S,CACNA1H:NM_021098:exon22:c.A4278G:p.S1426S |
RS2753325 |
Chronic kidney disease:Gene
expression of TPSG1 in normal prepouch ileum |
|
16 |
1268494 |
2 |
CACNA1H |
C |
T |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon32:c.C5712T:p.D1904D,CACNA1H:NM_021098:exon33:c.C5730T:p.D1910D |
|
16 |
1269029 |
2 |
CACNA1H |
T |
C |
exonic |
synonymous SNV |
CACNA1H:NM_001005407:exon33:c.T5929C:p.L1977L,CACNA1H:NM_021098:exon34:c.T5947C:p.L1983L |
RS2738893 |
Chronic kidney disease: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 |
1544301 |
2 |
TELO2 |
G |
C |
exonic |
nonsynonymous SNV |
TELO2:NM_016111:exon2:c.G19C:p.E7Q |
|
16 |
1544302 |
2 |
TELO2 |
A |
G |
exonic |
nonsynonymous SNV |
TELO2:NM_016111:exon2:c.A20G:p.E7G |
RS2667661 |
HDL cholesterol change with
statins:Gene expression of CCDC154///CLCN7 in blood |
|
16 |
1818503 |
2 |
MAPK8IP3 |
G |
C |
exonic |
synonymous SNV |
MAPK8IP3:NM_001040439:exon30:c.G3747C:p.G1249G,MAPK8IP3:NM_001318852:exon31:c.G3768C:p.G1256G,MAPK8IP3:NM_015133:exon31:c.G3765C:p.G1255G |
RS2076431 |
Triglycerides:LDL
cholesterol:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe
cg19030554] in Temporal cortex:Triglycerides:Total cholesterol |
|
16 |
2059674 |
2 |
ZNF598 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF598:NM_178167:exon2:c.A74G:p.E25G |
|
16 |
2150020 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon29:c.T9765C:p.R3255R,PKD1:NM_001009944:exon29:c.T9765C:p.R3255R |
|
16 |
2150022 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon29:c.C9763T:p.R3255C,PKD1:NM_001009944:exon29:c.C9763T:p.R3255C |
|
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 |
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 |
2153302 |
1 |
PKD1 |
C |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon23:c.G8756T:p.G2919V,PKD1:NM_001009944:exon23:c.G8756T:p.G2919V |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
2168059 |
1 |
PKD1 |
C |
G |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon5:c.G934C:p.A312P,PKD1:NM_001009944:exon5:c.G934C:p.A312P |
|
16 |
2168072 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.C921T:p.F307F,PKD1:NM_001009944:exon5:c.C921T:p.F307F |
|
16 |
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 |
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 |
2168267 |
1 |
PKD1 |
A |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.T726C:p.F242F,PKD1:NM_001009944:exon5:c.T726C:p.F242F |
|
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 |
2168318 |
1 |
PKD1 |
C |
G |
exonic |
synonymous SNV |
PKD1:NM_000296:exon5:c.G675C:p.S225S,PKD1:NM_001009944:exon5:c.G675C:p.S225S |
|
16 |
2257105 |
2 |
MLST8 |
C |
G |
exonic |
synonymous SNV |
MLST8:NM_001199173:exon5:c.C414G:p.P138P,MLST8:NM_001199174:exon5:c.C414G:p.P138P,MLST8:NM_001199175:exon5:c.C411G:p.P137P,MLST8:NM_022372:exon5:c.C414G:p.P138P |
RS26862 |
Methylation levels at
chr16:2200871-2200921 [hg18 coord, probe cg25665528] in Caudal
pons:Height:Gene expression:Mitral annular calcium:Infant head
circumference:Birth weight |
|
16 |
2260567 |
2 |
BRICD5 |
C |
T |
exonic |
nonsynonymous SNV |
BRICD5:NM_182563:exon2:c.G136A:p.V46I |
|
16 |
2260612 |
2 |
BRICD5 |
T |
C |
exonic |
nonsynonymous SNV |
BRICD5:NM_182563:exon2:c.A91G:p.S31G |
|
16 |
2282256 |
2 |
E4F1 |
G |
A |
exonic |
nonsynonymous SNV |
E4F1:NM_001288776:exon4:c.G500A:p.R167H,E4F1:NM_001288778:exon4:c.G500A:p.R167H,E4F1:NM_004424:exon4:c.G500A:p.R167H |
|
16 |
2285357 |
2 |
E4F1 |
C |
T |
exonic |
synonymous SNV |
E4F1:NM_001288778:exon12:c.C1608T:p.I536I,E4F1:NM_004424:exon14:c.C2139T:p.I713I |
RS26840 |
Height:HOMA-IR:Height:Gene
expression of PGP (ENSG00000184207) in dendritic cells treated with
Mycobacterium tuberculosis |
|
16 |
2331430 |
2 |
ABCA3 |
A |
G |
exonic |
synonymous SNV |
ABCA3:NM_001089:exon27:c.T4116C:p.S1372S |
|
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 |
4165432 |
2 |
ADCY9 |
T |
C |
exonic |
synonymous SNV |
ADCY9:NM_001116:exon2:c.A12G:p.P4P |
|
16 |
4386814 |
2 |
GLIS2 |
T |
C |
exonic |
synonymous SNV |
GLIS2:NM_032575:exon6:c.T864C:p.Y288Y,GLIS2:NM_001318918:exon8:c.T864C:p.Y288Y |
|
16 |
4431202 |
2 |
VASN |
A |
G |
exonic |
synonymous SNV |
VASN:NM_138440:exon2:c.A324G:p.T108T |
RS758044 |
Gene expression of C16orf5 [probe
223960_s_at] in lymphoblastoid cell lines:Methylation levels at
chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal
cortex:Methylation levels at chr16:4405732-4405782 [hg18 coord, probe
cg19168338] in Frontal cortex:Methylation levels at chr16:4465987-4466037
[hg18 coord, probe cg14951292] in Cerebellum:HDL cholesterol:Height |
|
16 |
4432029 |
2 |
VASN |
A |
C |
exonic |
nonsynonymous SNV |
VASN:NM_138440:exon2:c.A1151C:p.E384A |
RS3810818 |
Gene expression of C16orf5 [probe
223960_s_at] in lymphoblastoid cell lines:Methylation levels at
chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal
cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe
cg14951292] in Cerebellum:Waist hip ratio:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of NMRAL1 in blood:Gene
expression of DNAJA3 in blood:Gene expression of HMOX2///C16orf5 in
blood:Systolic blood pressure (SBP) |
|
16 |
4484396 |
2 |
DNAJA3 |
A |
T |
exonic |
nonsynonymous SNV |
DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y |
RS1139653 |
2 hour glucose:LDL cholesterol
change with statins:Total cholesterol change with statins:Methylation levels
at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Frontal
cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe
cg14951292] in Cerebellum:Methylation levels at chr16:4465987-4466037 [hg18
coord, probe cg14951292] in Temporal cortex:Methylation levels at
chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Caudal pons:Waist hip
ratio:Gene expression of C16orf5 (probeID ILMN_1815812) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of C16orf5 (probeID
ILMN_1815812) in temporal cortex in Alzheimer's disease cases and
controls:Refractive error |
|
16 |
4496973 |
2 |
DNAJA3 |
T |
A |
exonic |
synonymous SNV |
DNAJA3:NM_001286516:exon6:c.T624A:p.G208G,DNAJA3:NM_001135110:exon8:c.T1083A:p.G361G,DNAJA3:NM_005147:exon8:c.T1083A:p.G361G |
RS2304633 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Methylation levels at
chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Caudal
pons:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe
cg14951292] in Cerebellum:Methylation levels at chr16:4465987-4466037 [hg18
coord, probe cg14951292] in Temporal cortex:Waist hip ratio |
|
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 |
4944518 |
2 |
PPL |
C |
G |
exonic |
synonymous SNV |
PPL:NM_002705:exon12:c.G1344C:p.V448V |
|
16 |
5075542 |
2 |
NAGPA |
G |
A |
exonic |
synonymous SNV |
NAGPA:NM_016256:exon10:c.C1485T:p.N495N |
RS887854 |
Differential exon level expression
of NAGPA [probe 3678519] in peripheral blood mononuclear cells:Differential
exon level expression of NAGPA [probe 3678519] in brain cortex:Gene
expression of NAGPA [probe ILMN_26466] in osteoblasts treated with BMP2:Tetrology
of fallot:Years of education:College completion |
|
16 |
5083483 |
2 |
NAGPA |
T |
C |
exonic |
synonymous SNV |
NAGPA:NM_016256:exon2:c.A333G:p.G111G |
|
16 |
5139217 |
2 |
EEF2KMT |
C |
G |
exonic |
synonymous SNV |
EEF2KMT:NM_001289029:exon5:c.G600C:p.G200G,EEF2KMT:NM_201598:exon6:c.G681C:p.G227G,EEF2KMT:NM_201400:exon7:c.G783C:p.G261G |
|
16 |
5140283 |
1 |
EEF2KMT |
G |
A |
exonic |
nonsynonymous SNV |
EEF2KMT:NM_001289029:exon4:c.C361T:p.R121W,EEF2KMT:NM_201598:exon5:c.C442T:p.R148W,EEF2KMT:NM_201400:exon6:c.C544T:p.R182W |
|
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 |
9914947 |
2 |
|
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 |
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 |
15042859 |
1 |
NPIPA1 |
T |
C |
exonic |
synonymous SNV |
NPIPA1:NM_006985:exon5:c.T510C:p.N170N |
|
16 |
15098047 |
2 |
PDXDC1 |
C |
G |
exonic |
nonsynonymous SNV |
PDXDC1:NM_001285444:exon4:c.C165G:p.I55M,PDXDC1:NM_001285445:exon4:c.C162G:p.I54M,PDXDC1:NM_001324021:exon4:c.C165G:p.I55M,PDXDC1:NM_001285447:exon5:c.C201G:p.I67M,PDXDC1:NM_001285449:exon5:c.C246G:p.I82M,PDXDC1:NM_001285450:exon5:c.C246G:p.I82M,PDXDC1:NM_001324019:exon5:c.C243G:p.I81M,PDXDC1:NM_001324020:exon5:c.C243G:p.I81M,PDXDC1:NM_015027:exon5:c.C246G:p.I82M |
|
16 |
15111218 |
2 |
PDXDC1 |
C |
T |
exonic |
nonsynonymous SNV |
PDXDC1:NM_001285444:exon10:c.C821T:p.P274L,PDXDC1:NM_001285445:exon10:c.C818T:p.P273L,PDXDC1:NM_001285448:exon10:c.C629T:p.P210L,PDXDC1:NM_001285450:exon10:c.C833T:p.P278L,PDXDC1:NM_001324021:exon10:c.C821T:p.P274L,PDXDC1:NM_001285447:exon11:c.C857T:p.P286L,PDXDC1:NM_001285449:exon11:c.C902T:p.P301L,PDXDC1:NM_001324019:exon11:c.C899T:p.P300L,PDXDC1:NM_001324020:exon11:c.C899T:p.P300L,PDXDC1:NM_015027:exon11:c.C902T:p.P301L |
|
16 |
16271357 |
2 |
ABCC6 |
T |
C |
exonic |
nonsynonymous SNV |
ABCC6:NM_001171:exon19:c.A2542G:p.M848V |
|
16 |
16272670 |
2 |
ABCC6 |
T |
C |
exonic |
synonymous SNV |
ABCC6:NM_001171:exon18:c.A2400G:p.G800G |
|
16 |
18823379 |
2 |
SMG1 |
T |
C |
exonic |
synonymous SNV |
SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q |
|
16 |
19547357 |
2 |
CCP110 |
A |
G |
exonic |
synonymous SNV |
CCP110:NM_001199022:exon4:c.A366G:p.T122T,CCP110:NM_001323572:exon4:c.A366G:p.T122T,CCP110:NM_001323577:exon4:c.A366G:p.T122T,CCP110:NM_001323569:exon5:c.A366G:p.T122T,CCP110:NM_001323576:exon5:c.A366G:p.T122T,CCP110:NM_014711:exon5:c.A366G:p.T122T,CCP110:NM_001323570:exon6:c.A366G:p.T122T,CCP110:NM_001323571:exon6:c.A366G:p.T122T |
RS10492785 |
HDL cholesterol change with
statins:LDL cholesterol change with statins:Aortic valve calcium:Adiponectin
levels |
|
16 |
19547503 |
2 |
CCP110 |
C |
T |
exonic |
nonsynonymous SNV |
CCP110:NM_001199022:exon4:c.C512T:p.P171L,CCP110:NM_001323572:exon4:c.C512T:p.P171L,CCP110:NM_001323577:exon4:c.C512T:p.P171L,CCP110:NM_001323569:exon5:c.C512T:p.P171L,CCP110:NM_001323576:exon5:c.C512T:p.P171L,CCP110:NM_014711:exon5:c.C512T:p.P171L,CCP110:NM_001323570:exon6:c.C512T:p.P171L,CCP110:NM_001323571:exon6:c.C512T:p.P171L |
RS3751821 |
Rheumatoid arthritis:Simpson-Angus
Scale:Barnes Akathisia Rating Scale:HDL cholesterol change with statins:LDL
cholesterol change with statins:Gene expression of GDE1 in CD4+
lymphocytes:Gene expression of AC099518.5 in blood:Adiponectin levels:Aortic
valve calcium |
|
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 |
21190853 |
2 |
TMEM159 |
A |
C |
exonic |
nonsynonymous SNV |
TMEM159:NM_001301771:exon5:c.A462C:p.E154D,TMEM159:NM_020422:exon5:c.A462C:p.E154D,TMEM159:NM_001301769:exon6:c.A462C:p.E154D,TMEM159:NM_001301775:exon6:c.A534C:p.E178D |
RS1063087 |
Triglycerides change with
statins:Acute lung injury following major trauma:Obesity with early age of
onset (age >2):Gene expression of TMEM159 in normal prepouch ileum |
|
16 |
22262514 |
2 |
EEF2K |
C |
A |
exonic |
synonymous SNV |
EEF2K:NM_013302:exon6:c.C489A:p.G163G |
RS2303186 |
Major depressive disorder:HDL
cholesterol:Triglycerides:HDL cholesterol:Gene expression of POLR3E
[transcript NM_018119, probe A_23_P152181] in liver:Comorbid depressive
syndrome and alcohol dependence:Bipolar disorder |
|
16 |
22269867 |
2 |
EEF2K |
A |
G |
exonic |
nonsynonymous SNV |
EEF2K:NM_013302:exon10:c.A1082G:p.Q361R |
|
16 |
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 |
29825126 |
2 |
PRRT2 |
T |
C |
exonic |
synonymous SNV |
PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L |
|
16 |
30198151 |
2 |
CORO1A |
A |
G |
exonic |
synonymous SNV |
CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P |
|
16 |
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 |
31153105 |
2 |
PRSS36 |
A |
G |
exonic |
synonymous SNV |
PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D |
|
16 |
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 |
44938563 |
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 |
50120247 |
1 |
HEATR3 |
C |
T |
exonic |
nonsynonymous SNV |
HEATR3:NM_001329731:exon10:c.C802T:p.L268F,HEATR3:NM_182922:exon11:c.C1495T:p.L499F,HEATR3:NM_001329729:exon12:c.C1144T:p.L382F,HEATR3:NM_001329730:exon12:c.C1144T:p.L382F |
|
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 |
50825518 |
1 |
CYLD |
G |
A |
exonic |
nonsynonymous SNV |
CYLD:NM_001042355:exon14:c.G2149A:p.E717K,CYLD:NM_001042412:exon14:c.G2149A:p.E717K,CYLD:NM_015247:exon16:c.G2158A:p.E720K |
|
16 |
53341748 |
2 |
CHD9 |
T |
G |
exonic |
nonsynonymous SNV |
CHD9:NM_001308319:exon32:c.T6936G:p.D2312E,CHD9:NM_025134:exon33:c.T6936G:p.D2312E |
RS6499548 |
Eye color:Arthritis including
non-Rheumatoid:Longstanding arthritis:LDL cholesterol:Premature ovarian
failure:Abnormal Involuntary Movement Scale:Lp-PLA2
activity:Triglycerides:Asthma:PROP taste detection threshold:Tetrology of
fallot |
|
16 |
54318528 |
2 |
IRX3 |
A |
G |
exonic |
nonsynonymous SNV |
IRX3:NM_024336:exon2:c.T1265C:p.L422P |
|
16 |
56548501 |
2 |
BBS2 |
C |
T |
exonic |
nonsynonymous SNV |
BBS2:NM_031885:exon2:c.G209A:p.S70N |
|
16 |
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 |
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 |
58545426 |
2 |
NDRG4 |
A |
G |
exonic |
synonymous SNV |
NDRG4:NM_001242834:exon14:c.A1020G:p.S340S,NDRG4:NM_001242836:exon14:c.A966G:p.S322S,NDRG4:NM_001242833:exon15:c.A1056G:p.S352S,NDRG4:NM_001242835:exon15:c.A1005G:p.S335S,NDRG4:NM_001130487:exon16:c.A1122G:p.S374S,NDRG4:NM_020465:exon16:c.A1062G:p.S354S,NDRG4:NM_022910:exon16:c.A1062G:p.S354S |
RS42945 |
Refractive error:Coronary artery
disease (CAD):Salmonella-induced pyroptosis |
|
16 |
58743454 |
2 |
GOT2 |
A |
C |
exonic |
nonsynonymous SNV |
GOT2:NM_001286220:exon8:c.T908G:p.V303G,GOT2:NM_002080:exon9:c.T1037G:p.V346G |
RS30842 |
Eye color:Rheumatoid
arthritis:Total cholesterol:Triglycerides:Bipolar disorder:Resistance to kuru
in aged women despite likely exposure:Gene expression of SLC38A7
(ENSG00000103042) in dendritic cells:Gene expression of GOT2 in normal
prepouch ileum |
|
16 |
58750604 |
2 |
GOT2 |
G |
A |
exonic |
synonymous SNV |
GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C |
|
16 |
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 |
68598007 |
2 |
ZFP90 |
A |
G |
exonic |
synonymous SNV |
ZFP90:NM_001305203:exon5:c.A1317G:p.Q439Q,ZFP90:NM_133458:exon5:c.A1317G:p.Q439Q |
RS1177648 |
Gene expression of ZFP90 [probe
3666282] in brain cortex:Partial epilepsy:Gene expression of ZFP90 in CD4+
lymphocytes:Microalbuminuria:Gene expression of ZFP90 in blood:Maternal
transmission distortion:Gene expression of ZFP90 in normal prepouch ileum |
|
16 |
68857441 |
2 |
CDH1 |
T |
C |
exonic |
synonymous SNV |
CDH1:NM_001317184:exon12:c.T1893C:p.A631A,CDH1:NM_001317186:exon12:c.T111C:p.A37A,CDH1:NM_001317185:exon13:c.T528C:p.A176A,CDH1:NM_004360:exon13:c.T2076C:p.A692A |
RS1801552 |
Eye color:Body mass index
(BMI):Hypertension (early onset hypertension) |
|
16 |
69963355 |
2 |
WWP2 |
G |
A |
exonic |
synonymous SNV |
WWP2:NM_001270453:exon9:c.G891A:p.K297K,WWP2:NM_001270454:exon12:c.G1239A:p.K413K,WWP2:NM_007014:exon13:c.G1239A:p.K413K |
RS1566452 |
Total cholesterol:Serum
creatinine:Triglycerides:Height:Gene expression of CLEC18A in normal prepouch
ileum:Gene expression of PDXDC2P in normal prepouch ileum |
|
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 |
72827758 |
2 |
ZFHX3 |
T |
C |
exonic |
synonymous SNV |
ZFHX3:NM_001164766:exon8:c.A6081G:p.G2027G,ZFHX3:NM_006885:exon9:c.A8823G:p.G2941G |
RS699444 |
Simpson-Angus Scale:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Refractive error:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration |
|
16 |
72832135 |
2 |
ZFHX3 |
T |
A |
exonic |
synonymous SNV |
ZFHX3:NM_001164766:exon8:c.A1704T:p.A568A,ZFHX3:NM_006885:exon9:c.A4446T:p.A1482A |
|
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 |
75269534 |
2 |
BCAR1 |
C |
T |
exonic |
synonymous SNV |
BCAR1:NM_001170721:exon4:c.G633A:p.P211P,BCAR1:NM_001170715:exon5:c.G1317A:p.P439P,BCAR1:NM_001170716:exon5:c.G1317A:p.P439P,BCAR1:NM_001170717:exon5:c.G1317A:p.P439P,BCAR1:NM_001170718:exon5:c.G1263A:p.P421P,BCAR1:NM_001170719:exon5:c.G1257A:p.P419P,BCAR1:NM_014567:exon5:c.G1263A:p.P421P,BCAR1:NM_001170714:exon6:c.G1401A:p.P467P,BCAR1:NM_001170720:exon6:c.G819A:p.P273P |
RS3743613 |
Spine bone mineral density
(BMD):Rheumatoid arthritis:HDL cholesterol:Advanced age-related macular
degeneration:Years of education:Salmonella-induced pyroptosis:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
16 |
75590092 |
2 |
TMEM231 |
G |
C |
exonic |
nonsynonymous SNV |
TMEM231:NM_001077416:exon1:c.C78G:p.S26R,TMEM231:NM_001077418:exon1:c.C16G:p.L6V |
RS3743601 |
LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration (geographic atrophy) |
|
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 |
77246795 |
2 |
SYCE1L |
C |
G |
exonic |
synonymous SNV |
SYCE1L:NM_001348924:exon9:c.C573G:p.P191P,SYCE1L:NM_001129979:exon11:c.C696G:p.P232P |
|
16 |
84115483 |
2 |
MBTPS1 |
G |
A |
exonic |
synonymous SNV |
MBTPS1:NM_003791:exon11:c.C1317T:p.P439P |
RS3743631 |
Fasting blood glucose:LDL
cholesterol:Autism:Systolic blood pressure (SBP):Gene expression of TAF1C
(probeID ILMN_2335072) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TAF1C (probeID ILMN_2335072) in cerebellum in
Alzheimer's disease cases and controls:Mitral annular calcium:Adiponectin
levels |
|
16 |
84217062 |
2 |
TAF1C |
C |
T |
exonic |
nonsynonymous SNV |
TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y |
|
16 |
84520325 |
2 |
TLDC1 |
T |
C |
exonic |
synonymous SNV |
TLDC1:NM_020947:exon5:c.A870G:p.G290G |
RS431389 |
Serum creatinine |
|
16 |
84520396 |
2 |
TLDC1 |
A |
G |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon5:c.T799C:p.C267R |
|
16 |
85706047 |
2 |
GSE1 |
A |
C |
exonic |
synonymous SNV |
GSE1:NM_001134473:exon15:c.A3244C:p.R1082R,GSE1:NM_001278184:exon15:c.A3337C:p.R1113R,GSE1:NM_014615:exon16:c.A3556C:p.R1186R |
RS9940601 |
LDL cholesterol change with
statins:Total cholesterol change with statins |
|
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 |
88061150 |
2 |
BANP |
C |
T |
exonic |
synonymous SNV |
BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I |
|
16 |
88644005 |
2 |
ZC3H18 |
A |
G |
exonic |
synonymous SNV |
ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K |
|
16 |
88709828 |
2 |
CYBA |
A |
G |
exonic |
nonsynonymous SNV |
CYBA:NM_000101:exon6:c.T521C:p.V174A |
|
16 |
88713236 |
2 |
CYBA |
A |
G |
exonic |
nonsynonymous SNV |
CYBA:NM_000101:exon4:c.T214C:p.Y72H |
RS4673 |
Abnormal Involuntary Movement
Scale:Tardive dyskinesia:Serum creatinine:Autism with verbal
ability:Height:Gene expression of CYBA in blood |
|
16 |
88717386 |
2 |
CYBA |
T |
C |
exonic |
synonymous SNV |
CYBA:NM_000101:exon1:c.A36G:p.E12E |
|
16 |
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 |
88803124 |
2 |
PIEZO1 |
T |
C |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon11:c.A1219G:p.R407G |
|
16 |
88804734 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon7:c.T749C:p.V250A |
RS7184427 |
LDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Triglycerides change with statins:Height |
|
16 |
88808743 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon3:c.T248C:p.I83T |
RS6500495 |
Gene expression of SNAI3 in
peripheral blood monocytes |
|
16 |
88872145 |
2 |
CDT1 |
T |
C |
exonic |
nonsynonymous SNV |
CDT1:NM_030928:exon5:c.T700C:p.C234R |
|
16 |
88872229 |
2 |
CDT1 |
A |
G |
exonic |
nonsynonymous SNV |
CDT1:NM_030928:exon5:c.A784G:p.T262A |
RS480727 |
Eye color:Total cholesterol:Gene
expression of APRT in blood:Gene expression of TRAPPC2L in blood |
|
16 |
88872511 |
2 |
CDT1 |
T |
C |
exonic |
synonymous SNV |
CDT1:NM_030928:exon6:c.T915C:p.H305H |
RS510862 |
Rheumatoid arthritis:2 hour
glucose:Total cholesterol:LDL cholesterol:Age at death with kuru
exposure:Salmonella-induced pyroptosis:Gene expression of CTU2
(ENSG00000174177) in dendritic cells treated with Mycobacterium tuberculosis |
|
16 |
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 |
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 |
89783187 |
2 |
VPS9D1 |
C |
T |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon3:c.G219A:p.K73K |
|
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 |
1637302 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L |
RS3809872 |
Gene expression of RPA1
(ENSG00000132383) in dendritic cells treated with Mycobacterium
tuberculosis:Refractive error |
|
17 |
1639458 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T |
|
17 |
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 |
1690752 |
2 |
SMYD4 |
G |
A |
exonic |
nonsynonymous SNV |
SMYD4:NM_052928:exon6:c.C1684T:p.R562W |
|
17 |
1782957 |
2 |
RPA1 |
C |
T |
exonic |
synonymous SNV |
RPA1:NM_002945:exon11:c.C1056T:p.S352S |
|
17 |
1943888 |
2 |
DPH1 |
T |
C |
exonic |
synonymous SNV |
DPH1:NM_001346576:exon8:c.T591C:p.P197P,DPH1:NM_001346574:exon9:c.T948C:p.P316P,DPH1:NM_001346575:exon9:c.T915C:p.P305P,DPH1:NM_001383:exon9:c.T1011C:p.P337P |
|
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 |
2203348 |
2 |
SMG6 |
T |
C |
exonic |
synonymous SNV |
SMG6:NM_017575:exon2:c.A699G:p.P233P |
RS216194 |
5-hydroxyindoleacetic acid (HIAA) |
|
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 |
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 |
4046101 |
2 |
ZZEF1 |
A |
G |
exonic |
nonsynonymous SNV |
ZZEF1:NM_015113:exon1:c.T89C:p.V30A |
|
17 |
4088291 |
2 |
ANKFY1 |
C |
T |
exonic |
synonymous SNV |
ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T |
|
17 |
4455500 |
2 |
MYBBP1A |
T |
C |
exonic |
synonymous SNV |
MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A |
|
17 |
4575283 |
2 |
PELP1 |
A |
G |
exonic |
synonymous SNV |
PELP1:NM_014389:exon16:c.T3153C:p.P1051P |
|
17 |
4641755 |
2 |
CXCL16 |
C |
T |
exonic |
synonymous SNV |
CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G |
|
17 |
4693170 |
2 |
GLTPD2 |
T |
C |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.T455C:p.V152A |
|
17 |
4693342 |
2 |
GLTPD2 |
C |
A |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.C627A:p.D209E |
|
17 |
4701019 |
2 |
PSMB6 |
C |
T |
exonic |
synonymous SNV |
PSMB6:NM_001270481:exon4:c.C345T:p.S115S,PSMB6:NM_002798:exon4:c.C345T:p.S115S |
|
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 |
4796286 |
2 |
MINK1 |
C |
T |
exonic |
nonsynonymous SNV |
MINK1:NM_015716:exon19:c.C2213T:p.P738L,MINK1:NM_170663:exon19:c.C2213T:p.P738L,MINK1:NM_001024937:exon20:c.C2264T:p.P755L,MINK1:NM_001321236:exon20:c.C2048T:p.P683L,MINK1:NM_153827:exon20:c.C2324T:p.P775L |
RS11556635 |
Gene expression of MINK1 in Frontal
cortex:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ENO3 (probeID
ILMN_1678904) in cerebellum in non-Alzheimer's disease samples:Gene expression
of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease
cases:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in
non-Alzheimer's disease samples:Gene expression of CHRNE (ENSG00000108556) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in
Progressive Supranuclear Palsy cases:Birth weight:Gene expression of ENO3
(probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases |
|
17 |
5280440 |
2 |
RABEP1 |
T |
C |
exonic |
synonymous SNV |
RABEP1:NM_001291581:exon13:c.T1926C:p.R642R,RABEP1:NM_001083585:exon14:c.T2055C:p.R685R,RABEP1:NM_004703:exon14:c.T2055C:p.R685R |
RS3026101 |
Gene expression of RABEP1 [probe
225092_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe
225064_at] in lymphoblastoid cell lines:Differential splicing of RABEP1
[probeset 3707692] in lymphoblastoid cell lines:Body mass index (BMI):Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of RABEP1
(probeID ILMN_1719622) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex
in Alzheimer's disease cases and controls |
|
17 |
5284698 |
2 |
RABEP1 |
A |
G |
exonic |
synonymous SNV |
RABEP1:NM_001083585:exon16:c.A2286G:p.Q762Q,RABEP1:NM_001291581:exon16:c.A2256G:p.Q752Q,RABEP1:NM_004703:exon17:c.A2385G:p.Q795Q |
|
17 |
5284719 |
2 |
RABEP1 |
T |
C |
exonic |
synonymous SNV |
RABEP1:NM_001083585:exon16:c.T2307C:p.N769N,RABEP1:NM_001291581:exon16:c.T2277C:p.N759N,RABEP1:NM_004703:exon17:c.T2406C:p.N802N |
RS1065482 |
Gene expression of RABEP1 [probe
214552_s_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe
225092_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe
225064_at] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset
3707692] in lymphoblastoid cell lines:Differential splicing of RABEP1
[probeset 3707689] in lymphoblastoid cell lines:Differential splicing of
RABEP1 [probeset 3707691] in lymphoblastoid cell lines:HDL cholesterol:Gene
expression of RABEP1 in Frontal cortex:LDL cholesterol:Body mass index
(BMI):Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in
non-Alzheimer's disease samples:Gene expression of RABEP1 (probeID
ILMN_1719622) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's
disease cases:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal
cortex in Alzheimer's disease cases and controls |
|
17 |
5284770 |
2 |
RABEP1 |
G |
A |
exonic |
synonymous SNV |
RABEP1:NM_001083585:exon16:c.G2358A:p.R786R,RABEP1:NM_001291581:exon16:c.G2328A:p.R776R,RABEP1:NM_004703:exon17:c.G2457A:p.R819R |
RS1065483 |
Gene expression of RABEP1 in YRI
lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225064_at] in
lymphoblastoid cell lines:Gene expression of RABEP1 [probe 214552_s_at] in
lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225092_at] in lymphoblastoid
cell lines:Gene expression of RABEP1 in liver:Differential splicing of RABEP1
[probeset 3707692] in lymphoblastoid cell lines:Differential splicing of
RABEP1 [probeset 3707689] in lymphoblastoid cell lines:Differential splicing
of RABEP1 [probeset 3707691] in lymphoblastoid cell lines:LDL
cholesterol:Differential exon level expression of RPAIN [probe 3707720] in
brain cortex:Differential exon level expression of RABEP1 [probe 3707690] in
brain cortex:Gene expression of RPAIN [probe 3707715] in brain
cortex:Differential exon level expression of RABEP1 [probe 3707691] in brain
cortex:Differential exon level expression of RABEP1 [probe 3707690] in
peripheral blood mononuclear cells:Differential exon level expression of
RPAIN [probe 3707720] in peripheral blood mononuclear cells:Gene expression
of RABEP1 probe [GI_31377797-S] in brain cortex with no Alzheimer's
interaction:Gene expression of RABEP1 [probe ILMN_18056] in osteoblasts:Major
depressive disorder:Gene expression of RABEP1 in Frontal cortex:Gene
expression of RABEP1 in peripheral blood monocytes:LDL cholesterol:Total
cholesterol:Gene expression of RABEP1 in CD4+ lymphocytes:Body mass index
(BMI):Gene expression of RABEP1 [probe ILMN_18056] in osteoblasts treated
with PGE2:Gene expression of RABEP1 [probe ILMN_18056] in untreated
osteoblasts:Gene expression of NLRP1 [transcript NM_014922, probe
A_23_P89550] in liver:Gene expression of RABEP1 [transcript NM_001083585,
probe 4120475] in liver:Chronic obstructive pulmonary disease (COPD):Gene
expression of NUP88 [probeset 230274_s_at] in sputum:Resistance to kuru in
aged women despite likely exposure:Gene expression of RABEP1 (probeID
ILMN_1719622) in temporal cortex in Alzheimer's disease cases:Gene expression
change of NUP88 (ENSG00000108559) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of RABEP1 (probeID ILMN_1719622)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of DHX33 (ENSG00000005100) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of RABEP1 (probeID
ILMN_1719622) in temporal cortex in non-Alzheimer's disease samples:Gene expression
of RABEP1 (probeID ILMN_1719622) in whole blood |
|
17 |
5289580 |
2 |
NUP88 |
A |
G |
exonic |
synonymous SNV |
NUP88:NM_001320653:exon17:c.T2220C:p.H740H,NUP88:NM_002532:exon17:c.T2172C:p.H724H |
RS11209 |
Schizophrenia:Gene expression of
RABEP1 in peripheral blood monocytes:Body mass index (BMI) (max
measurement):Gene expression of HS.543501 (probeID ILMN_1860878) in breast
tumors |
|
17 |
5294976 |
2 |
NUP88 |
T |
A |
exonic |
synonymous SNV |
NUP88:NM_001320653:exon10:c.A1389T:p.P463P,NUP88:NM_002532:exon10:c.A1389T:p.P463P |
|
17 |
5347576 |
2 |
DHX33 |
G |
A |
exonic |
synonymous SNV |
DHX33:NM_001199699:exon11:c.C1554T:p.Y518Y,DHX33:NM_020162:exon12:c.C2073T:p.Y691Y |
RS2074438 |
Gene expression of MIS12 in
peripheral blood monocytes:Gene expression of RABEP1 in peripheral blood
monocytes:Microalbuminuria:Gene expression change of C1QBP (ENSG00000108561)
in dendritic cells after treatment with Mycobacterium tuberculosis |
|
17 |
6493198 |
2 |
KIAA0753 |
T |
C |
exonic |
nonsynonymous SNV |
KIAA0753:NM_001351225:exon18:c.A1790G:p.Q597R,KIAA0753:NM_014804:exon18:c.A2687G:p.Q896R |
RS1443417 |
Irritible bowel
syndrome:Differential exon level expression of KIAA0753 [probe 3743144] in
brain cortex:HDL cholesterol:Gene expression of XAF1///FBXO39 in blood:Gene
expression of KIAA0753 [probeset 204711_at] in sputum:Parkinson's
disease:Birth weight |
|
17 |
6515387 |
2 |
KIAA0753 |
A |
G |
exonic |
nonsynonymous SNV |
KIAA0753:NM_001351225:exon8:c.T500C:p.L167P,KIAA0753:NM_014804:exon8:c.T1397C:p.L466P |
RS2289642 |
Irritible bowel
syndrome:Differential exon level expression of KIAA0753 [probe 3743144] in
brain cortex:HDL cholesterol:Gene expression of XAF1///FBXO39 in blood:Gene
expression of KIAA0753 [probeset 204711_at] in sputum:Gene expression of
MED31 [probeset 219318_x_at] in sputum:Gene expression of TXNDC17 [probeset
228743_at] in sputum:Parkinson's disease |
|
17 |
6531648 |
2 |
KIAA0753 |
A |
G |
exonic |
synonymous SNV |
KIAA0753:NM_014804:exon3:c.T507C:p.S169S |
RS2072149 |
HDL cholesterol:Parkinson's disease |
|
17 |
7217463 |
2 |
GPS2 |
T |
C |
exonic |
synonymous SNV |
GPS2:NM_004489:exon5:c.A333G:p.L111L |
RS2292064 |
Gene expression of EIF5A in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 213757_at
in lymphoblastoid cell lines:Gene expression of EIF5A [probe 213753_x_at] in
lymphoblastoid cell lines:Gene expression of EIF5A [probe 201122_x_at] in
lymphoblastoid cell lines:Gene expression of EIF5A [probe 201123_s_at] in
lymphoblastoid cell lines:HDL cholesterol:Gene expression of EIF5AL1 in
Fibroblasts:Gene expression of EIF5AL1 in Lymphoblastoid cell
lines:HOMA-B:Gene expression of EIF5A in Temporal cortex:Gene expression of
EIF5A in Cerebellum:Gene expression of EIF5A in Frontal cortex:Gene
expression of EIF5A in Caudal pons:Gene expression of EIF5A [probe
ILMN_26100] in osteoblasts treated with BMP2:Gene expression of EIF5A [probe
ILMN_26100] in osteoblasts treated with PGE2:Gene expression of EIF5A in
liver:Obesity with early age of onset (age >2) |
|
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 |
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 |
7579472 |
2 |
TP53 |
G |
C |
exonic |
nonsynonymous SNV |
TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_000546:exon4:c.C215G:p.P72R,TP53:NM_001126112:exon4:c.C215G:p.P72R,TP53:NM_001126113:exon4:c.C215G:p.P72R,TP53:NM_001126114:exon4:c.C215G:p.P72R,TP53:NM_001276695:exon4:c.C98G:p.P33R,TP53:NM_001276696:exon4:c.C98G:p.P33R,TP53:NM_001276760:exon4:c.C98G:p.P33R,TP53:NM_001276761:exon4:c.C98G:p.P33R |
RS1042522 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index
(BMI):Circulating sex hormone-binding globulin levels in non-postmenopausal
hormone users:Gene expression change of CD68 (ENSG00000129226) in dendritic
cells after treatment with Mycobacterium tuberculosis:Circulating sex
hormone-binding globulin levels |
|
17 |
7750232 |
2 |
KDM6B |
T |
C |
exonic |
synonymous SNV |
KDM6B:NM_001080424:exon9:c.T807C:p.A269A,KDM6B:NM_001348716:exon9:c.T807C:p.A269A |
|
17 |
7760704 |
2 |
NAA38 |
A |
G |
exonic |
nonsynonymous SNV |
NAA38:NM_032356:exon1:c.T38C:p.L13P |
RS8522 |
Birth weight |
|
17 |
8416901 |
2 |
MYH10 |
C |
T |
exonic |
synonymous SNV |
MYH10:NM_005964:exon21:c.G2607A:p.T869T,MYH10:NM_001256095:exon22:c.G2634A:p.T878T,MYH10:NM_001256012:exon23:c.G2700A:p.T900T |
RS11374 |
Serum creatinine:Birth weight |
|
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 |
10614442 |
2 |
ADPRM |
A |
G |
exonic |
nonsynonymous SNV |
ADPRM:NM_020233:exon4:c.A1010G:p.E337G |
RS406446 |
Gene expression of TMEM220 [probe
229693_at] in lymphoblastoid cell lines:Differential exon level expression of
C17orf48 [probe 3710287] in brain cortex:Differential exon level expression
of C17orf48 [probe 3710287] in peripheral blood mononuclear cells:Gene
expression of C17orf48 [probe 3710277] in brain cortex:Differential exon
level expression of C17orf48 [probe 3710284] in peripheral blood mononuclear
cells:Gene expression of C17orf48 [probe 3710277] in peripheral blood
mononuclear cells:2 hour glucose:Methylation levels at
chr17:10542726-10542776 [hg18 coord, probe cg12478185] in Temporal
cortex:Gene expression of SCO1 in blood:Gene expression of TMEM220 in
blood:Gene expression of AC002347.1 in blood:Gene expression of MYH3 in
blood:Gene expression of AC002347.1///TMEM220 in blood:Gene expression of
C17orf48 [probeset 223401_at] in sputum:Gene expression of TMEM220 [probeset
229693_at] in sputum:Gene expression of TMEM220 in normal prepouch ileum:Gene
expression of C17orf48 in normal prepouch ileum:Gene expression of SCO1 in
normal prepouch ileum:Tetrology of fallot |
|
17 |
15341183 |
1 |
CDRT4 |
A |
C |
exonic |
nonsynonymous SNV |
CDRT4:NM_001204477:exon4:c.T366G:p.H122Q |
RS2954759 |
Waist hip ratio:Advanced age-related
macular degeneration (geographic atrophy) |
|
17 |
16859628 |
2 |
|
17 |
17696531 |
2 |
RAI1 |
G |
C |
exonic |
nonsynonymous SNV |
RAI1:NM_030665:exon3:c.G269C:p.G90A |
|
17 |
17696755 |
2 |
RAI1 |
C |
A |
exonic |
nonsynonymous SNV |
RAI1:NM_030665:exon3:c.C493A:p.P165T |
RS11649804 |
Triglycerides:Triglycerides:Waist
hip ratio:Body mass index (BMI):Parkinson's disease (PD):Gene expression of
RAI1///SREBF1 in blood:Gene expression of SREBF1 in blood:Age at death with
kuru exposure:College completion:Adiponectin levels:Salmonella-induced
pyroptosis |
|
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 |
22023422 |
2 |
MTRNR2L1 |
C |
T |
exonic |
nonsynonymous SNV |
MTRNR2L1:NM_001190452:exon1:c.C35T:p.S12L |
|
17 |
26684394 |
2 |
POLDIP2 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
17 |
26684449 |
2 |
POLDIP2 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
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 |
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 |
33288363 |
2 |
CCT6B |
C |
T |
exonic |
nonsynonymous SNV |
CCT6B:NM_001193529:exon1:c.G50A:p.R17Q,CCT6B:NM_001193530:exon1:c.G50A:p.R17Q,CCT6B:NM_006584:exon1:c.G50A:p.R17Q |
RS9635769 |
Gene expression of LIG3 in CD4+
lymphocytes:Gene expression of ZNF830 in blood:Gene expression of LIG3 in
blood:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
33445549 |
2 |
RAD51D |
G |
A |
exonic |
synonymous SNV |
RAD51D:NM_002878:exon3:c.C234T:p.S78S |
|
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 |
33998802 |
2 |
AP2B1 |
G |
C |
exonic |
synonymous SNV |
AP2B1:NM_001282:exon15:c.G2019C:p.V673V,AP2B1:NM_001030006:exon16:c.G2061C:p.V687V |
|
17 |
34942595 |
2 |
GGNBP2 |
G |
A |
exonic |
synonymous SNV |
GGNBP2:NM_024835:exon12:c.G1608A:p.K536K |
RS1106908 |
Methylation levels at
chr17:31454581-31454631 [hg18 coord, probe cg20657421] in Caudal pons:Gene
expression of MGC4172 in Frontal cortex:Total cholesterol:Triglycerides:LDL
cholesterol:Waist hip ratio:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:PROP taste detection threshold:Salmonella-induced
pyroptosis |
|
17 |
35478362 |
2 |
ACACA |
T |
C |
exonic |
synonymous SNV |
ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T |
|
17 |
36861983 |
2 |
MLLT6 |
T |
C |
exonic |
nonsynonymous SNV |
MLLT6:NM_005937:exon1:c.T98C:p.V33A |
|
17 |
37898543 |
2 |
GRB7 |
T |
C |
exonic |
nonsynonymous SNV |
GRB7:NM_001242442:exon2:c.T58C:p.C20R |
|
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 |
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 |
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 |
42398052 |
2 |
SLC25A39 |
A |
G |
exonic |
nonsynonymous SNV |
SLC25A39:NM_001321240:exon8:c.T670C:p.F224L,SLC25A39:NM_001143780:exon9:c.T739C:p.F247L,SLC25A39:NM_001321241:exon9:c.T733C:p.F245L,SLC25A39:NM_016016:exon9:c.T715C:p.F239L |
RS2011951 |
Differential splicing of CGI-69
[probeset 3759083] in lymphoblastoid cell lines:Differential exon level
expression of SLC25A39 [probe 3759083] in peripheral blood mononuclear
cells:Differential exon level expression of SLC25A39 [probe 3759083] in brain
cortex:Fasting blood glucose:Chronic kidney disease:Gene expression of
TMUB2///ATXN7L3 in blood:Gene expression of GRN///FAM171A2 in blood:Gene
expression of AC003102.4 in blood:Gene expression of RUNDC3A in
blood:Hypertension (early onset hypertension) |
|
17 |
43555372 |
1 |
PLEKHM1 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon3:c.G190A:p.A64T |
|
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 |
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 |
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 |
45994044 |
2 |
SP2 |
C |
T |
exonic |
synonymous SNV |
SP2:NM_003110:exon3:c.C607T:p.L203L |
RS2228253 |
Urinary albumin-to-creatinine ratio |
|
17 |
45994094 |
2 |
SP2 |
T |
C |
exonic |
synonymous SNV |
SP2:NM_003110:exon3:c.T657C:p.L219L |
RS2228251 |
Urinary albumin-to-creatinine ratio |
|
17 |
45994154 |
2 |
SP2 |
G |
A |
exonic |
synonymous SNV |
SP2:NM_003110:exon3:c.G717A:p.P239P |
RS2229358 |
Differential exon level expression
of OSBPL7 [probe 3760921] in peripheral blood mononuclear cells:Gene
expression of OSBPL7 [probe 3760894] in peripheral blood mononuclear
cells:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Information
processing speed (8-choice reaction time):Urinary albumin-to-creatinine
ratio:Gene expression of SP2 in blood:Hypertension (early onset hypertension) |
|
17 |
46002744 |
2 |
SP2 |
G |
T |
exonic |
synonymous SNV |
SP2:NM_003110:exon6:c.G1578T:p.V526V |
|
17 |
46688256 |
2 |
HOXB7 |
T |
C |
exonic |
nonsynonymous SNV |
HOXB7:NM_004502:exon1:c.A25G:p.T9A |
RS7406910 |
LDL cholesterol:Obesity with early
age of onset (age >2):Acute lung injury following major trauma |
|
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 |
47444985 |
2 |
|
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 |
48174908 |
2 |
PDK2 |
C |
T |
exonic |
synonymous SNV |
PDK2:NM_001199899:exon2:c.C48T:p.S16S,PDK2:NM_001199900:exon2:c.C240T:p.S80S,PDK2:NM_002611:exon2:c.C240T:p.S80S,PDK2:NM_001199898:exon3:c.C48T:p.S16S |
|
17 |
48629458 |
2 |
SPATA20 |
A |
G |
exonic |
nonsynonymous SNV |
SPATA20:NM_001258372:exon13:c.A1826G:p.K609R,SPATA20:NM_001258373:exon14:c.A1694G:p.K565R,SPATA20:NM_022827:exon14:c.A1874G:p.K625R |
RS8065903 |
Gene expression of SPATA20 [probe
218164_at] in lymphoblastoid cell lines:Gene expression of SPATA20 in blood
cells in Celiac disease:Schizophrenia:Differential exon level expression of
SPATA20 [probe 3726601] in brain cortex:Differential exon level expression of
SPATA20 [probe 3726597] in brain cortex:Gene expression of SPATA20 [probe
3726569] in peripheral blood mononuclear cells:Gene expression of SPATA20 in
CD4+ lymphocytes:Gene expression of SPATA20 in blood:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Gene expression of
SPATA20 in normal prepouch ileum |
|
17 |
49021537 |
2 |
|
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 |
54978794 |
2 |
TRIM25 |
G |
A |
exonic |
nonsynonymous SNV |
TRIM25:NM_005082:exon4:c.C1073T:p.P358L |
RS205498 |
HDL cholesterol:HOMA-IR:Urinary
albumin-to-creatinine ratio:Age at death with kuru exposure:Parkinson's
disease |
|
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 |
57287454 |
2 |
SMG8 |
A |
G |
exonic |
synonymous SNV |
SMG8:NM_018149:exon1:c.A42G:p.A14A |
RS6503905 |
HDL cholesterol:Gene expression of
SMG8 in normal prepouch ileum:Serum myeloperoxidase levels:College
completion:Plasma myeloperoxidase levels:Years of education:Gene expression
of C17orf71 (ENSG00000167447) in dendritic cells |
|
17 |
57290383 |
2 |
SMG8 |
G |
A |
exonic |
synonymous SNV |
SMG8:NM_018149:exon3:c.G2199A:p.R733R |
RS3744383 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:LDL cholesterol:Partial epilepsy:Total
cholesterol:Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob
disease:Gene expression of GDPD1 (probeID ILMN_2106265) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of GDPD1 (probeID
ILMN_2106265) in cerebellum in Alzheimer's disease cases and controls |
|
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 |
59763465 |
2 |
BRIP1 |
T |
C |
exonic |
synonymous SNV |
BRIP1:NM_032043:exon19:c.A2637G:p.E879E |
RS4986765 |
Height:Neuroblastoma (brain
cancer):Bipolar disorder |
|
17 |
59955426 |
2 |
INTS2 |
T |
G |
exonic |
nonsynonymous SNV |
INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H |
|
17 |
60043884 |
2 |
MED13 |
G |
A |
exonic |
synonymous SNV |
MED13:NM_005121:exon19:c.C4320T:p.D1440D |
|
17 |
60491144 |
2 |
EFCAB3 |
T |
C |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L |
|
17 |
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 |
60558503 |
1 |
TLK2 |
A |
G |
exonic |
nonsynonymous SNV |
TLK2:NM_001284363:exon1:c.A17G:p.H6R,TLK2:NM_001284333:exon2:c.A17G:p.H6R,TLK2:NM_006852:exon2:c.A17G:p.H6R |
|
17 |
60558534 |
1 |
TLK2 |
G |
A |
exonic |
synonymous SNV |
TLK2:NM_001284363:exon1:c.G48A:p.L16L,TLK2:NM_001284333:exon2:c.G48A:p.L16L,TLK2:NM_006852:exon2:c.G48A:p.L16L |
|
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 |
60631088 |
1 |
TLK2 |
A |
G |
exonic |
nonsynonymous SNV |
TLK2:NM_001284363:exon7:c.A596G:p.K199R,TLK2:NM_001284333:exon9:c.A692G:p.K231R,TLK2:NM_001330418:exon9:c.A245G:p.K82R,TLK2:NM_006852:exon9:c.A692G:p.K231R |
|
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 |
60758273 |
2 |
MRC2 |
G |
C |
exonic |
synonymous SNV |
MRC2:NM_006039:exon17:c.G2586C:p.S862S |
|
17 |
62125272 |
2 |
ERN1 |
A |
G |
exonic |
synonymous SNV |
ERN1:NM_001433:exon19:c.T2475C:p.H825H |
|
17 |
62141455 |
2 |
ERN1 |
A |
G |
exonic |
synonymous SNV |
ERN1:NM_001433:exon10:c.T978C:p.I326I |
|
17 |
62892271 |
1 |
LRRC37A3 |
A |
T |
exonic |
nonsynonymous SNV |
LRRC37A3:NM_199340:exon4:c.T1105A:p.S369T |
|
17 |
62893332 |
1 |
LRRC37A3 |
G |
C |
exonic |
nonsynonymous SNV |
LRRC37A3:NM_199340:exon4:c.C44G:p.P15R |
|
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 |
65988049 |
2 |
C17orf58 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf58:NM_181655:exon3:c.A274G:p.I92V |
RS9891146 |
Bipolar disorder:Gene expression of
AMZ2 [probe 227567_at] in lymphoblastoid cell lines:Stabilized warfarin
dose:Rheumatoid arthritis:Triglycerides:LDL cholesterol:Total
cholesterol:Height:Body mass index (BMI):Microalbuminuria:Iris crypt
frequency:Resistance to kuru in aged women despite likely
exposure:Transmission distortion:Infant head circumference:Paternal
transmission distortion:Obesity with early age of onset (age >2) |
|
17 |
65989048 |
2 |
C17orf58 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf58:NM_181656:exon2:c.A215G:p.E72G |
|
17 |
66039350 |
2 |
KPNA2 |
A |
G |
exonic |
synonymous SNV |
KPNA2:NM_001320611:exon7:c.A801G:p.V267V,KPNA2:NM_002266:exon7:c.A801G:p.V267V |
RS4638 |
Triglycerides:LDL
cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Height:Body mass
index (BMI):Microalbuminuria:Obesity with early age of onset (age
>2):Infant head circumference |
|
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 |
67267317 |
2 |
ABCA5 |
T |
C |
exonic |
nonsynonymous SNV |
ABCA5:NM_018672:exon20:c.A2878G:p.M960V,ABCA5:NM_172232:exon21:c.A2878G:p.M960V |
RS557491 |
College completion |
|
17 |
67273882 |
2 |
ABCA5 |
C |
A |
exonic |
nonsynonymous SNV |
ABCA5:NM_018672:exon18:c.G2494T:p.A832S,ABCA5:NM_172232:exon19:c.G2494T:p.A832S |
RS536009 |
Premature ovarian failure:2 hour
glucose:Gene expression of ABCA5 in blood:Comorbid depressive syndrome and
alcohol dependence:Hypertension (early onset hypertension) |
|
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 |
71192663 |
2 |
COG1 |
G |
A |
exonic |
synonymous SNV |
COG1:NM_018714:exon2:c.G333A:p.Q111Q |
RS1052706 |
Gene expression of FAM104A in normal
prepouch ileum:Infant head circumference |
|
17 |
71192873 |
2 |
COG1 |
A |
G |
exonic |
synonymous SNV |
COG1:NM_018714:exon2:c.A543G:p.A181A |
|
17 |
71196809 |
2 |
COG1 |
A |
G |
exonic |
nonsynonymous SNV |
COG1:NM_018714:exon6:c.A1175G:p.N392S |
RS1026128 |
Schizophrenia:Barnes Akathisia
Rating Scale:Gene expression of COG1 in peripheral blood monocytes:Gene
expression of C17orf80 in CD4+ lymphocytes:Asthma:Gene expression of
COG1///FAM104A in blood:Gene expression of FAM104A///COG1 in blood:Gene
expression of C17orf80 (ENSG00000141219) in dendritic cells treated with
Mycobacterium tuberculosis:Infant head circumference:Hypertension (early
onset hypertension) |
|
17 |
71197748 |
2 |
COG1 |
G |
A |
exonic |
synonymous SNV |
COG1:NM_018714:exon7:c.G1782A:p.E594E |
RS1037256 |
Infant head circumference |
|
17 |
71205854 |
2 |
FAM104A |
A |
G |
exonic |
nonsynonymous SNV |
FAM104A:NM_001289410:exon2:c.T275C:p.I92T,FAM104A:NM_001289411:exon3:c.T293C:p.I98T |
RS8387 |
Gene expression of CPSF4L
(ENSG00000187959) in dendritic cells:Infant head circumference:Parkinson's
disease |
|
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 |
71238433 |
2 |
C17orf80 |
G |
A |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100622:exon4:c.G1564A:p.A522T,C17orf80:NM_001351264:exon4:c.G1564A:p.A522T,C17orf80:NM_017941:exon4:c.G1564A:p.A522T |
RS1566286 |
Schizophrenia:Gene expression of
C17orf80 in CD4+ lymphocytes:Asthma:Gene expression of COG1///FAM104A in
blood:Gene expression of FAM104A///COG1 in blood:Diastolic blood pressure
(DBP):Gene expression of FAM104A in normal prepouch ileum |
|
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 |
73625430 |
2 |
RECQL5 |
G |
A |
exonic |
synonymous SNV |
RECQL5:NM_004259:exon16:c.C2073T:p.H691H |
RS4788902 |
Advanced age-related macular
degeneration (geographic atrophy):Infant head circumference:Advanced
age-related macular degeneration |
|
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 |
73819525 |
2 |
UNK |
C |
T |
exonic |
synonymous SNV |
UNK:NM_001080419:exon15:c.C2199T:p.S733S |
RS8078208 |
LDL cholesterol:Total
cholesterol:Systolic blood pressure (SBP):Paternal transmission
distortion:Obsessive-compulsive disorder (OCD) |
|
17 |
74381555 |
2 |
SPHK1 |
G |
A |
exonic |
nonsynonymous SNV |
SPHK1:NM_182965:exon2:c.G88A:p.A30T |
|
17 |
74381567 |
2 |
SPHK1 |
G |
A |
exonic |
nonsynonymous SNV |
SPHK1:NM_182965:exon2:c.G100A:p.A34T |
|
17 |
74387284 |
2 |
UBE2O |
C |
T |
exonic |
nonsynonymous SNV |
UBE2O:NM_022066:exon18:c.G3619A:p.G1207S |
RS3803739 |
Triglycerides:Gene expression of
SPHK1 in blood:Gene expression of UBE2O in blood |
|
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 |
75494705 |
2 |
9-Sep |
A |
G |
exonic |
nonsynonymous SNV |
SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001293696:exon10:c.A1054G:p.M352V,SEPT9:NM_001293697:exon10:c.A973G:p.M325V,SEPT9:NM_001293698:exon10:c.A973G:p.M325V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_001293695:exon11:c.A1669G:p.M557V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V |
RS2627223 |
Height |
|
17 |
76183043 |
2 |
TK1 |
A |
G |
exonic |
synonymous SNV |
TK1:NM_001346663:exon1:c.T33C:p.P11P,TK1:NM_003258:exon1:c.T33C:p.P11P |
RS1071664 |
Gene expression of SYNGR2 in CD4+
lymphocytes |
|
17 |
77078109 |
2 |
ENGASE |
A |
G |
exonic |
synonymous SNV |
ENGASE:NM_001042573:exon7:c.A1002G:p.R334R |
RS1317421 |
Chronic kidney disease:Birth weight |
|
17 |
78298938 |
2 |
RNF213 |
A |
G |
exonic |
nonsynonymous SNV |
RNF213:NM_001256071:exon18:c.A3133G:p.N1045D |
|
17 |
79171967 |
2 |
CEP131 |
A |
G |
exonic |
nonsynonymous SNV |
CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A |
|
17 |
79174221 |
2 |
CEP131 |
T |
C |
exonic |
nonsynonymous SNV |
CEP131:NM_001009811:exon8:c.A814G:p.T272A,CEP131:NM_001319228:exon8:c.A814G:p.T272A,CEP131:NM_001319229:exon8:c.A814G:p.T272A,CEP131:NM_014984:exon8:c.A814G:p.T272A |
RS2466773 |
HDL cholesterol:LDL cholesterol:2
hour glucose:LDL cholesterol:Infant head circumference |
|
17 |
79409309 |
2 |
BAHCC1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
17 |
79478019 |
2 |
ACTG1 |
G |
A |
exonic |
synonymous SNV |
ACTG1:NM_001199954:exon5:c.C918T:p.Y306Y,ACTG1:NM_001614:exon5:c.C918T:p.Y306Y |
RS1139405 |
Irritible bowel
syndrome:Allele-specific methylation and blood gene expression of
211983_x_at:Allele-specific methylation and blood gene expression of
213214_x_at:Allele-specific methylation and blood gene expression of
212988_x_at:Allele-specific methylation and blood gene expression of
201550_x_at:Allele-specific methylation and blood gene expression of
221607_x_at:Allele-specific methylation and blood gene expression of
211970_x_at:Allele-specific methylation and blood gene expression of
224585_x_at:Total cholesterol change with statins:LDL cholesterol change with
statins:Gene expression of ACTG1 [probe 212363_x_at] in prefrontal
cortex:Systolic blood pressure (SBP):Immunoglobulin G antibody to protective
antigen response to Anthrax Vaccine Adsorbed |
|
17 |
79508400 |
2 |
FAAP100 |
T |
C |
exonic |
nonsynonymous SNV |
FAAP100:NM_025161:exon8:c.A2449G:p.T817A |
RS14422 |
Salmonella-induced pyroptosis |
|
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 |
80136418 |
2 |
CCDC57 |
C |
T |
exonic |
nonsynonymous SNV |
CCDC57:NM_198082:exon10:c.G1438A:p.V480M,CCDC57:NM_001316321:exon11:c.G1438A:p.V480M |
RS7209474 |
Total cholesterol:Serum
creatinine:Cystatin C in serum:Chronic kidney disease:Methylation levels at
chr17:77702815-77702865 [hg18 coord, probe cg21565972] in Frontal
cortex:Methylation levels at chr17:77702815-77702865 [hg18 coord, probe
cg21565972] in Temporal cortex:Total cholesterol:Height:Body mass index
(BMI):Gene expression of CCDC57 (probeID ILMN_2140342) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of CCDC57 (probeID
ILMN_2140342) in temporal cortex in Alzheimer's disease cases and controls |
|
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 |
80159566 |
2 |
CCDC57 |
T |
C |
exonic |
synonymous SNV |
CCDC57:NM_198082:exon2:c.A255G:p.E85E,CCDC57:NM_001316321:exon3:c.A255G:p.E85E |
|
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 |
80280865 |
2 |
SECTM1 |
G |
A |
exonic |
synonymous SNV |
SECTM1:NM_003004:exon4:c.C426T:p.P142P |
|
17 |
80391684 |
2 |
HEXDC |
A |
G |
exonic |
nonsynonymous SNV |
HEXDC:NM_001330542:exon5:c.A433G:p.I145V,HEXDC:NM_173620:exon5:c.A433G:p.I145V |
RS4789773 |
Gene expression of NARF in YRI
lymphoblastoid cell lines:Gene expression of NARF [probe 219862_s_at] in
lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Total
cholesterol:Gene expression of HEXDC in blood:Age at death with kuru
exposure:Obesity with early age of onset (age >2):Advanced age-related
macular degeneration:Gene expression of NARF in normal prepouch ileum |
|
17 |
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 |
153221657 |
2 |
|
18 |
252559 |
2 |
THOC1 |
G |
A |
exonic |
synonymous SNV |
THOC1:NM_005131:exon9:c.C657T:p.D219D |
|
18 |
724612 |
2 |
YES1 |
A |
G |
exonic |
synonymous SNV |
YES1:NM_005433:exon12:c.T1444C:p.L482L |
|
18 |
2539016 |
2 |
METTL4 |
C |
G |
exonic |
nonsynonymous SNV |
METTL4:NM_022840:exon9:c.G1402C:p.V468L |
|
18 |
3067278 |
1 |
MYOM1 |
A |
G |
exonic |
synonymous SNV |
MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G |
RS2230164 |
Alzheimer's disease:Gene expression
of LPIN2 in blood:Gene expression of MYOM1 in blood |
|
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 |
8783835 |
2 |
MTCL1 |
T |
C |
exonic |
nonsynonymous SNV |
MTCL1:NM_015210:exon6:c.T725C:p.M242T |
|
18 |
8784370 |
2 |
MTCL1 |
A |
G |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon6:c.A1260G:p.E420E |
|
18 |
10748603 |
2 |
PIEZO2 |
A |
T |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon28:c.T4215A:p.L1405L |
RS8096037 |
HDL cholesterol:College completion |
|
18 |
10752666 |
2 |
PIEZO2 |
C |
T |
exonic |
nonsynonymous SNV |
PIEZO2:NM_022068:exon26:c.G4060A:p.V1354I |
RS7234309 |
Aortic valve calcium |
|
18 |
10758023 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N |
RS7407105 |
Salmonella-induced pyroptosis |
|
18 |
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 |
12984144 |
2 |
SEH1L |
C |
A |
exonic |
nonsynonymous SNV |
SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N |
RS6505776 |
Gene expression of CEP192 [probe
218827_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene
expression of CEP192 in blood cells in Celiac disease:Differential exon level
expression of CEP192 [probe 3779866] in brain cortex:Differential exon level
expression of CEP192 [probe 3779874] in brain cortex:Differential exon level
expression of CEP192 [probe 3779874] in peripheral blood mononuclear
cells:Differential exon level expression of CEP192 [probe 3779864] in brain
cortex:Differential exon level expression of CEP192 [probe 3779870] in brain
cortex:Differential exon level expression of CEP192 [probe 3779865] in brain
cortex:Differential exon level expression of CEP192 [probe 3779862] in brain
cortex:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192
in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+
lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of
SEH1L in blood:Gene expression of CEP192 [probeset 218827_s_at] in
sputum:Hypertension (early onset hypertension):Refractive error:Gene
expression of CEP192 in normal prepouch ileum:Gene expression of CEP192
(probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Primary rhegmatogenous retinal detachment:Gene
expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's
disease cases and controls:Infant head circumference:College completion |
|
18 |
13001512 |
1 |
CEP192 |
G |
C |
exonic |
nonsynonymous SNV |
CEP192:NM_032142:exon3:c.G221C:p.G74A |
RS4499304 |
Fasting blood glucose:Serum
creatinine:Gene expression of CEP192 in Caudal pons:Height:Refractive
error:College completion:Years of education |
|
18 |
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 |
14105016 |
2 |
ZNF519 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF519:NM_145287:exon3:c.G1523T:p.R508I |
|
18 |
14105923 |
2 |
ZNF519 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF519:NM_145287:exon3:c.A616G:p.K206E |
|
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 |
21100240 |
2 |
C18orf8 |
C |
T |
exonic |
synonymous SNV |
C18orf8:NM_001318707:exon7:c.C453T:p.P151P,C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_001318709:exon8:c.C780T:p.P260P,C18orf8:NM_001318708:exon9:c.C453T:p.P151P,C18orf8:NM_013326:exon10:c.C924T:p.P308P |
RS1367083 |
Fasting blood glucose:LDL
cholesterol:Height:Body mass index (BMI):Mitral annular calcium:Years of
education:College completion |
|
18 |
21120444 |
2 |
NPC1 |
T |
C |
exonic |
nonsynonymous SNV |
NPC1:NM_000271:exon17:c.A2572G:p.I858V |
RS1805082 |
Fasting blood glucose:Childhood
acute lymphoblastic leukemia:Gene expression of NPC1 in peripheral blood
monocytes:HDL cholesterol:LDL cholesterol:Height:Body mass index
(BMI):Diastolic blood pressure (DBP):Years of education:College
completion:Mitral annular calcium |
|
18 |
21124945 |
2 |
NPC1 |
C |
G |
exonic |
nonsynonymous SNV |
NPC1:NM_000271:exon12:c.G1926C:p.M642I |
RS1788799 |
HOMA-IR:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age
>2):College completion:Years of education |
|
18 |
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 |
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 |
29497573 |
2 |
TRAPPC8 |
A |
G |
exonic |
nonsynonymous SNV |
TRAPPC8:NM_014939:exon3:c.T410C:p.L137S |
|
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 |
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 |
33785185 |
2 |
MOCOS |
A |
G |
exonic |
synonymous SNV |
MOCOS:NM_017947:exon6:c.A1164G:p.P388P |
|
18 |
42533130 |
2 |
SETBP1 |
A |
G |
exonic |
synonymous SNV |
SETBP1:NM_015559:exon4:c.A3825G:p.S1275S |
RS8096662 |
Barnes Akathisia Rating Scale:LDL
cholesterol:Body mass index (BMI):Parkinson's disease |
|
18 |
47563299 |
2 |
MYO5B |
T |
C |
exonic |
nonsynonymous SNV |
MYO5B:NM_001080467:exon4:c.A376G:p.T126A |
|
18 |
47810351 |
2 |
CXXC1 |
A |
G |
exonic |
synonymous SNV |
CXXC1:NM_001101654:exon10:c.T1338C:p.T446T,CXXC1:NM_014593:exon10:c.T1326C:p.T442T |
RS7228084 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
18 |
47908556 |
2 |
SKA1 |
G |
A |
exonic |
nonsynonymous SNV |
SKA1:NM_001039535:exon4:c.G271A:p.V91I,SKA1:NM_145060:exon4:c.G271A:p.V91I |
RS6507992 |
Fasting insulin:HOMA-IR:Methylation
levels at chr18:46155136-46155186 [hg18 coord, probe cg06883149] in Temporal
cortex:HDL cholesterol |
|
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 |
55221648 |
2 |
FECH |
T |
C |
exonic |
synonymous SNV |
FECH:NM_000140:exon9:c.A921G:p.P307P,FECH:NM_001012515:exon9:c.A939G:p.P313P |
RS536560 |
LDL cholesterol |
|
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 |
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 |
66504093 |
2 |
CCDC102B |
A |
C |
exonic |
synonymous SNV |
CCDC102B:NM_024781:exon2:c.A93C:p.A31A,CCDC102B:NM_001093729:exon4:c.A93C:p.A31A |
|
18 |
66504459 |
2 |
CCDC102B |
A |
T |
exonic |
nonsynonymous SNV |
CCDC102B:NM_024781:exon2:c.A459T:p.K153N,CCDC102B:NM_001093729:exon4:c.A459T:p.K153N |
|
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 |
67871343 |
2 |
RTTN |
A |
C |
exonic |
nonsynonymous SNV |
RTTN:NM_173630:exon3:c.T376G:p.S126A |
RS3911730 |
Comorbid depressive syndrome and
alcohol dependence:Birth weight |
|
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 |
72776121 |
2 |
ZNF407 |
G |
A |
exonic |
synonymous SNV |
ZNF407:NM_017757:exon8:c.G6444A:p.T2148T |
RS3744913 |
Tardive dyskinesia |
|
18 |
74611127 |
2 |
ZNF236 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF236:NM_001306089:exon11:c.A1843G:p.I615V,ZNF236:NM_007345:exon11:c.A1837G:p.I613V |
RS608433 |
Comorbid depressive syndrome and
alcohol dependence:Adiponectin levels |
|
18 |
74680259 |
2 |
ZNF236 |
C |
T |
exonic |
synonymous SNV |
ZNF236:NM_001306089:exon31:c.C5508T:p.A1836A,ZNF236:NM_007345:exon31:c.C5502T:p.A1834A |
RS657066 |
Waist hip ratio |
|
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 |
|
19 |
434718 |
2 |
SHC2 |
G |
A |
exonic |
synonymous SNV |
SHC2:NM_012435:exon8:c.C1101T:p.A367A |
|
19 |
605171 |
2 |
HCN2 |
T |
C |
exonic |
synonymous SNV |
HCN2:NM_001194:exon3:c.T1167C:p.P389P |
|
19 |
613898 |
2 |
HCN2 |
T |
C |
exonic |
synonymous SNV |
HCN2:NM_001194:exon7:c.T1872C:p.A624A |
|
19 |
619021 |
2 |
POLRMT |
G |
C |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon15:c.C3243G:p.P1081P |
|
19 |
621712 |
2 |
POLRMT |
A |
G |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon10:c.T1986C:p.A662A |
|
19 |
622336 |
2 |
POLRMT |
T |
G |
exonic |
nonsynonymous SNV |
POLRMT:NM_005035:exon9:c.A1664C:p.E555A |
|
19 |
625198 |
2 |
POLRMT |
A |
G |
exonic |
synonymous SNV |
POLRMT:NM_005035:exon4:c.T879C:p.T293T |
|
19 |
731144 |
2 |
PALM |
A |
G |
exonic |
nonsynonymous SNV |
PALM:NM_001040134:exon5:c.A319G:p.T107A,PALM:NM_002579:exon5:c.A319G:p.T107A |
RS1050457 |
Cystatin C in serum:Rheumatoid
arthritis:LDL cholesterol:Age at menarche |
|
19 |
929753 |
2 |
ARID3A |
A |
G |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon2:c.A225G:p.P75P |
|
19 |
965043 |
2 |
ARID3A |
T |
C |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon6:c.T1161C:p.N387N |
|
19 |
984533 |
2 |
WDR18 |
T |
C |
exonic |
synonymous SNV |
WDR18:NM_024100:exon1:c.T180C:p.N60N |
RS2301810 |
Gene expression of WDR18 [probe
209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Triglycerides:LDL cholesterol:Mitral annular calcium |
|
19 |
984554 |
2 |
WDR18 |
C |
G |
exonic |
synonymous SNV |
WDR18:NM_024100:exon1:c.C201G:p.L67L |
RS4806884 |
Gene expression of WDR18 [probe
209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Triglycerides:Mitral annular calcium |
|
19 |
990281 |
2 |
WDR18 |
G |
A |
exonic |
nonsynonymous SNV |
WDR18:NM_024100:exon4:c.G514A:p.A172T |
RS2158367 |
LDL cholesterol:Total
cholesterol:Cystatin C in serum:Triglycerides:Age at menarche |
|
19 |
1036552 |
2 |
CNN2 |
T |
C |
exonic |
synonymous SNV |
CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_001303499:exon6:c.T612C:p.C204C,CNN2:NM_001303501:exon6:c.T708C:p.C236C,CNN2:NM_004368:exon6:c.T645C:p.C215C |
RS2304262 |
Aortic valve calcium |
|
19 |
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 |
1110829 |
2 |
SBNO2 |
G |
A |
exonic |
synonymous SNV |
SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N |
RS2302109 |
Irritible bowel
syndrome:Schizophrenia:HDL cholesterol:Gene expression of GPX4 in
blood:Advanced age-related macular degeneration (geographic atrophy):Primary
rhegmatogenous retinal detachment:Parkinson's disease |
|
19 |
1127615 |
2 |
SBNO2 |
G |
C |
exonic |
synonymous SNV |
SBNO2:NM_001100122:exon2:c.C258G:p.S86S,SBNO2:NM_014963:exon5:c.C429G:p.S143S |
RS2074915 |
Total cholesterol:LDL
cholesterol:Gene expression change of ABCA7 (ENSG00000064687) in dendritic
cells after treatment with Mycobacterium tuberculosis:Mitral annular calcium |
|
19 |
1127720 |
2 |
SBNO2 |
G |
A |
exonic |
synonymous SNV |
SBNO2:NM_001100122:exon2:c.C153T:p.S51S,SBNO2:NM_014963:exon5:c.C324T:p.S108S |
RS2074916 |
Crohn's disease, combined control
dataset:Irritible bowel syndrome:Gene expression of POLR2E [probe
217854_s_at] in prefrontal cortex:Total cholesterol:LDL cholesterol:Mitral
annular calcium |
|
19 |
1272040 |
2 |
CIRBP |
T |
C |
exonic |
synonymous SNV |
CIRBP:NM_001280:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300815:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300829:exon6:c.T492C:p.Y164Y |
RS12488 |
Chronic kidney disease |
|
19 |
1277275 |
2 |
C19orf24 |
G |
C |
exonic |
synonymous SNV |
C19orf24:NM_017914:exon2:c.G375C:p.V125V |
RS757292 |
Urinary albumin-to-creatinine ratio |
|
19 |
1357082 |
2 |
MUM1 |
T |
C |
exonic |
synonymous SNV |
MUM1:NM_032853:exon3:c.T135C:p.S45S |
RS713042 |
Gene expression of CNN2 in CHB-JPT
lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid
cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell
lines:Gene expression of probe 230461_s_at in lymphoblastoid cell
lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no
arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid
arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal
prepouch ileum:Hypertension (early onset hypertension) |
|
19 |
1388538 |
2 |
NDUFS7 |
C |
T |
exonic |
nonsynonymous SNV |
NDUFS7:NM_024407:exon3:c.C68T:p.P23L |
|
19 |
1510661 |
2 |
ADAMTSL5 |
A |
G |
exonic |
synonymous SNV |
ADAMTSL5:NM_213604:exon3:c.T168C:p.S56S |
|
19 |
1555964 |
2 |
MEX3D |
G |
T |
exonic |
synonymous SNV |
MEX3D:NM_001174118:exon2:c.C1554A:p.P518P,MEX3D:NM_203304:exon2:c.C1554A:p.P518P |
|
19 |
1615796 |
2 |
TCF3 |
G |
A |
exonic |
nonsynonymous SNV |
TCF3:NM_001136139:exon16:c.C1475T:p.A492V,TCF3:NM_003200:exon17:c.C1475T:p.A492V |
|
19 |
1821637 |
2 |
REXO1 |
A |
G |
exonic |
nonsynonymous SNV |
REXO1:NM_020695:exon5:c.T2275C:p.S759P |
|
19 |
1880950 |
2 |
ABHD17A |
T |
C |
exonic |
nonsynonymous SNV |
ABHD17A:NM_031213:exon3:c.A430G:p.K144E |
|
19 |
1912934 |
2 |
ADAT3 |
T |
C |
exonic |
synonymous SNV |
ADAT3:NM_001329533:exon2:c.T840C:p.T280T,ADAT3:NM_138422:exon2:c.T888C:p.T296T |
|
19 |
1986520 |
2 |
BTBD2 |
G |
A |
exonic |
synonymous SNV |
BTBD2:NM_017797:exon9:c.C1545T:p.D515D |
|
19 |
1997363 |
2 |
BTBD2 |
A |
G |
exonic |
synonymous SNV |
BTBD2:NM_017797:exon2:c.T507C:p.A169A |
|
19 |
2339958 |
2 |
SPPL2B |
T |
C |
exonic |
unknown |
UNKNOWN |
|
19 |
2833802 |
2 |
ZNF554 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF554:NM_001102651:exon5:c.A569G:p.E190G |
RS867168 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):Differential exon level expression of
ZNF554 [probe 3816656] in brain cortex:HDL cholesterol change with
statins:Height:Gene expression of SGTA [probe ILMN_1162] in osteoblasts
treated with BMP2:Gene expression of SGTA [probe ILMN_1162] in osteoblasts
treated with bmp |
|
19 |
2833864 |
2 |
ZNF554 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF554:NM_001102651:exon5:c.G631A:p.V211I |
RS867169 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Differential exon level expression of
ZNF554 [probe 3816656] in brain cortex:Height:Gene expression of SGTA [probe
ILMN_1162] in osteoblasts treated with bmp |
|
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 |
2917186 |
2 |
ZNF57 |
T |
C |
exonic |
synonymous SNV |
ZNF57:NM_001319083:exon4:c.T471C:p.T157T,ZNF57:NM_173480:exon4:c.T567C:p.T189T |
|
19 |
2917287 |
2 |
ZNF57 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF57:NM_001319083:exon4:c.C572A:p.T191N,ZNF57:NM_173480:exon4:c.C668A:p.T223N |
RS2288958 |
Irritible bowel syndrome:Fasting
blood glucose:HOMA-IR:Fasting insulin:Partial epilepsy:Age at death with kuru
exposure:Transmission distortion:Adiponectin levels:College
completion:Paternal transmission distortion |
|
19 |
2917612 |
2 |
ZNF57 |
T |
C |
exonic |
synonymous SNV |
ZNF57:NM_001319083:exon4:c.T897C:p.T299T,ZNF57:NM_173480:exon4:c.T993C:p.T331T |
RS10410539 |
Advanced age-related macular
degeneration |
|
19 |
3653525 |
2 |
PIP5K1C |
C |
T |
exonic |
synonymous SNV |
PIP5K1C:NM_001195733:exon7:c.G684A:p.S228S,PIP5K1C:NM_001300849:exon7:c.G684A:p.S228S,PIP5K1C:NM_012398:exon7:c.G684A:p.S228S |
RS2074957 |
Height:Diastolic blood pressure
(DBP):Refractive error |
|
19 |
3977486 |
2 |
EEF2 |
A |
G |
exonic |
synonymous SNV |
EEF2:NM_001961:exon13:c.T2190C:p.Y730Y |
RS36527 |
2 hour glucose:HDL
cholesterol:Height:Body mass index (BMI) |
|
19 |
3979408 |
2 |
EEF2 |
A |
G |
exonic |
synonymous SNV |
EEF2:NM_001961:exon11:c.T1632C:p.H544H |
RS36526 |
2 hour glucose:HDL
cholesterol:Height:Body mass index (BMI) |
|
19 |
4028783 |
2 |
PIAS4 |
C |
T |
exonic |
synonymous SNV |
PIAS4:NM_015897:exon6:c.C738T:p.T246T |
RS2289863 |
Cystatin C in serum:Rheumatoid
arthritis:Partial epilepsy:HDL cholesterol:Body mass index (BMI):Gene
expression of PIAS4 in blood:Years of education |
|
19 |
4033462 |
2 |
PIAS4 |
T |
C |
exonic |
synonymous SNV |
PIAS4:NM_015897:exon9:c.T1026C:p.C342C |
|
19 |
4325433 |
2 |
STAP2 |
G |
A |
exonic |
synonymous SNV |
STAP2:NM_001013841:exon10:c.C939T:p.P313P,STAP2:NM_017720:exon10:c.C939T:p.P313P |
RS1138253 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of STAP2
(probeID ILMN_1704500) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of STAP2 (probeID ILMN_1704500) in temporal cortex
in Alzheimer's disease cases and controls |
|
19 |
4333711 |
2 |
STAP2 |
C |
T |
exonic |
nonsynonymous SNV |
STAP2:NM_001013841:exon3:c.G277A:p.D93N,STAP2:NM_017720:exon3:c.G277A:p.D93N |
RS7247504 |
Hip bone mineral density
(BMD):Spine bone mineral density (BMD):HDL cholesterol:LDL cholesterol change
with statins:Total cholesterol change with statins:Resistance to kuru in aged
women despite likely exposure:Gene expression of STAP2 (probeID ILMN_1657631)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
STAP2 (probeID ILMN_1704500) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of STAP2 (probeID ILMN_1657631) in temporal
cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene
expression of STAP2 (probeID ILMN_1704500) in cerebellum in Alzheimer's
disease cases and controls |
|
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 |
4442999 |
2 |
CHAF1A |
T |
G |
exonic |
nonsynonymous SNV |
CHAF1A:NM_005483:exon15:c.T2848G:p.S950A |
|
19 |
4454000 |
2 |
UBXN6 |
G |
A |
exonic |
synonymous SNV |
UBXN6:NM_001171091:exon2:c.C15T:p.A5A,UBXN6:NM_025241:exon2:c.C174T:p.A58A |
|
19 |
4493708 |
2 |
HDGFL2 |
A |
G |
exonic |
synonymous SNV |
HDGFL2:NM_001001520:exon7:c.A687G:p.P229P,HDGFL2:NM_001348169:exon7:c.A759G:p.P253P,HDGFL2:NM_032631:exon7:c.A687G:p.P229P |
RS892161 |
LDL cholesterol:Fasting blood
glucose:LDL cholesterol:Total cholesterol:Waist hip ratio:Hypertension (early
onset hypertension):Gene expression of UBXN6 (ENSG00000167671) in dendritic
cells:Gene expression of SEMA6B (ENSG00000167680) in dendritic cells:Gene
expression of UBXN6 (ENSG00000167671) in dendritic cells treated with
Mycobacterium tuberculosis |
|
19 |
4513559 |
2 |
PLIN4 |
A |
G |
exonic |
nonsynonymous SNV |
PLIN4:NM_001080400:exon3:c.T371C:p.V124A |
|
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 |
5041178 |
2 |
KDM4B |
T |
C |
exonic |
synonymous SNV |
KDM4B:NM_015015:exon5:c.T348C:p.D116D |
RS2240678 |
Citrate:Tyrosine |
|
19 |
5135392 |
2 |
KDM4B |
A |
G |
exonic |
nonsynonymous SNV |
KDM4B:NM_015015:exon15:c.A2128G:p.K710E |
|
19 |
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 |
6713291 |
2 |
C3 |
C |
T |
exonic |
synonymous SNV |
C3:NM_000064:exon9:c.G912A:p.R304R |
|
19 |
6731057 |
2 |
GPR108 |
T |
C |
exonic |
synonymous SNV |
GPR108:NM_001080452:exon17:c.A1500G:p.G500G |
|
19 |
6737481 |
2 |
GPR108 |
T |
C |
exonic |
nonsynonymous SNV |
GPR108:NM_001080452:exon1:c.A107G:p.Q36R |
RS340138 |
HOMA-IR:Fasting insulin:HOMA-B |
|
19 |
6737509 |
2 |
GPR108 |
G |
A |
exonic |
synonymous SNV |
GPR108:NM_001080452:exon1:c.C79T:p.L27L |
|
19 |
7083629 |
2 |
ZNF557 |
A |
G |
exonic |
synonymous SNV |
ZNF557:NM_001044387:exon8:c.A1167G:p.S389S,ZNF557:NM_001044388:exon8:c.A1146G:p.S382S,ZNF557:NM_024341:exon8:c.A1167G:p.S389S |
RS966591 |
Crohn's disease:Irritible bowel
syndrome:LDL cholesterol change with statins:Total cholesterol change with
statins:Cystatin C in serum:Gene expression of TIFAB in peripheral blood
monocytes |
|
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 |
7711221 |
2 |
STXBP2 |
T |
C |
exonic |
synonymous SNV |
STXBP2:NM_001127396:exon16:c.T1434C:p.D478D,STXBP2:NM_001272034:exon16:c.T1476C:p.D492D,STXBP2:NM_006949:exon16:c.T1443C:p.D481D |
|
19 |
7712277 |
2 |
STXBP2 |
A |
G |
exonic |
nonsynonymous SNV |
STXBP2:NM_001127396:exon18:c.A1567G:p.I523V,STXBP2:NM_001272034:exon18:c.A1609G:p.I537V,STXBP2:NM_006949:exon18:c.A1576G:p.I526V |
RS6791 |
Refractive error:Adiponectin levels |
|
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 |
8321946 |
2 |
CERS4 |
T |
C |
exonic |
synonymous SNV |
CERS4:NM_024552:exon9:c.T726C:p.S242S |
RS36247 |
HDL cholesterol:Obesity with early
age of onset (age >2) |
|
19 |
8326904 |
2 |
CERS4 |
G |
A |
exonic |
nonsynonymous SNV |
CERS4:NM_024552:exon12:c.G1096A:p.A366T |
RS36259 |
Sporadic Creutzfeldt-Jakob
disease:Primary rhegmatogenous retinal detachment |
|
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 |
8645786 |
2 |
ADAMTS10 |
A |
C |
exonic |
nonsynonymous SNV |
ADAMTS10:NM_001282352:exon13:c.T1764G:p.H588Q,ADAMTS10:NM_030957:exon26:c.T3303G:p.H1101Q |
|
19 |
10224526 |
2 |
P2RY11;PPAN-P2RY11 |
C |
T |
exonic |
nonsynonymous SNV |
PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L |
|
19 |
10226256 |
2 |
EIF3G |
A |
G |
exonic |
synonymous SNV |
EIF3G:NM_003755:exon10:c.T846C:p.F282F |
RS7710 |
Refractive error |
|
19 |
10265312 |
2 |
DNMT1 |
T |
C |
exonic |
synonymous SNV |
DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T |
RS721186 |
Total cholesterol |
|
19 |
10395683 |
2 |
ICAM1 |
A |
G |
exonic |
nonsynonymous SNV |
ICAM1:NM_000201:exon6:c.A1405G:p.K469E |
RS5498 |
Plasma soluble intercellular
adhesion molecule 1 (ICAM-1) (females):Alzheimer's disease:Soluble
intercellular adhesion molecule 1 (ICAM-1):Rheumatoid arthritis:Urinary
albumin-to-creatinine ratio:Soluble intercellular adhesion molecule 1
(ICAM-1):ICAM1 gene expression in omental adipose tissue:ICAM5 gene
expression in omental adipose tissue:ICAM1 gene expression in subcutaneous
adipose tissue:ICAM4 gene expression in omental adipose tissue:Cerebral white
matter hyperintensities burden:Gene expression of ICAM4 in blood:Gene
expression of AC020931.6 in blood:College completion |
|
19 |
10402938 |
2 |
ICAM5 |
G |
A |
exonic |
nonsynonymous SNV |
ICAM5:NM_003259:exon4:c.G901A:p.V301I |
RS1056538 |
Breast cancer |
|
19 |
10403368 |
2 |
ICAM5 |
G |
A |
exonic |
nonsynonymous SNV |
ICAM5:NM_003259:exon5:c.G1042A:p.A348T |
RS2228615 |
Abnormal Involuntary Movement
Scale:Alzheimer's disease:Rheumatoid arthritis:Urinary albumin-to-creatinine
ratio:Soluble intercellular adhesion molecule 1 (ICAM-1):Gene expression of
ICAM4 in blood:College completion:Advanced age-related macular degeneration
(geographic atrophy) |
|
19 |
10426628 |
2 |
FDX1L |
T |
C |
exonic |
synonymous SNV |
FDX1L:NM_001031734:exon1:c.A54G:p.L18L |
RS395782 |
2 hour glucose |
|
19 |
10625067 |
2 |
S1PR5 |
A |
C |
exonic |
synonymous SNV |
S1PR5:NM_001166215:exon2:c.T621G:p.A207A,S1PR5:NM_030760:exon2:c.T621G:p.A207A |
|
19 |
10668452 |
2 |
KRI1 |
A |
G |
exonic |
synonymous SNV |
KRI1:NM_023008:exon15:c.T1497C:p.F499F |
RS3745255 |
Gene expression of KRI1 [probe
218798_at] in lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid
arthritis:Height:Gene expression of SLC44A2 in blood:Variant
Creutzfeldt-Jakob disease:Gene expression of ATG4D (ENSG00000130734) in
dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression change
of ATG4D (ENSG00000130734) in dendritic cells after treatment with
Mycobacterium tuberculosis:Advanced age-related macular degeneration |
|
19 |
10668673 |
2 |
KRI1 |
A |
G |
exonic |
nonsynonymous SNV |
KRI1:NM_023008:exon14:c.T1352C:p.L451P |
RS1982074 |
Spine bone mineral density
(BMD):Hip bone mineral density (BMD):HDL cholesterol change with statins:LDL
cholesterol:Total cholesterol:Microalbuminuria:Gene expression of
AC011461.6///CDKN2D in blood:Gene expression of S1PR5 in blood:Gene
expression of ATG4D///AC011461.6 in blood |
|
19 |
10679240 |
2 |
CDKN2D |
C |
G |
exonic |
synonymous SNV |
CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R |
|
19 |
11224265 |
2 |
LDLR |
A |
G |
exonic |
synonymous SNV |
LDLR:NM_001195800:exon8:c.A909G:p.R303R,LDLR:NM_001195799:exon9:c.A1290G:p.R430R,LDLR:NM_001195803:exon9:c.A1032G:p.R344R,LDLR:NM_000527:exon10:c.A1413G:p.R471R,LDLR:NM_001195798:exon10:c.A1413G:p.R471R |
RS5930 |
Differential splicing of LDLR
[probeset 3821042] in lymphoblastoid cell lines:LDL
cholesterol:Schizophrenia:LDL cholesterol:Total cholesterol:HDL
cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome
and alcohol dependence:Age at death with kuru exposure:Variant
Creutzfeldt-Jakob disease:LDL cholesterol:College completion:Total
cholesterol:Coronary artery disease (CAD):Advanced age-related macular
degeneration:LDL cholesterol response after 40mg daily simvastatin
treatment:Hypertension (early onset hypertension) |
|
19 |
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 |
11303943 |
2 |
KANK2 |
A |
G |
exonic |
synonymous SNV |
KANK2:NM_015493:exon2:c.T813C:p.V271V,KANK2:NM_001329451:exon3:c.T813C:p.V271V,KANK2:NM_001136191:exon4:c.T813C:p.V271V |
RS3745681 |
LDL cholesterol:Rheumatoid
arthritis:Total cholesterol:LDL cholesterol:Diastolic blood pressure
(DBP):Advanced age-related macular degeneration (geographic atrophy) |
|
19 |
11319636 |
2 |
DOCK6 |
G |
A |
exonic |
nonsynonymous SNV |
DOCK6:NM_020812:exon38:c.C4895T:p.A1632V |
|
19 |
11508177 |
2 |
RGL3 |
G |
A |
exonic |
nonsynonymous SNV |
RGL3:NM_001035223:exon17:c.C1843T:p.R615C,RGL3:NM_001161616:exon17:c.C1861T:p.R621C |
RS2291516 |
Differential exon level expression
of MGC20983 [probe 3850930] in brain cortex:Differential exon level
expression of RAB3D [probe 3850831] in brain cortex:Gene expression of
C19orf39 [probe 3821183] in brain cortex:Differential exon level expression
of C19orf39 [probe 3821189] in brain cortex:Gene expression of UNQ501 [probe
3850832] in brain cortex:Gene expression of PRKCSH///ELAVL3 in blood:Advanced
age-related macular degeneration (geographic atrophy):Gene expression of
LPPR2 (ENSG00000105520) in dendritic cells treated with Mycobacterium
tuberculosis:Tetrology of fallot |
|
19 |
11526759 |
2 |
RGL3 |
G |
A |
exonic |
nonsynonymous SNV |
RGL3:NM_001035223:exon5:c.C491T:p.A164V,RGL3:NM_001161616:exon5:c.C491T:p.A164V |
|
19 |
11526765 |
2 |
RGL3 |
G |
T |
exonic |
nonsynonymous SNV |
RGL3:NM_001035223:exon5:c.C485A:p.P162H,RGL3:NM_001161616:exon5:c.C485A:p.P162H |
RS167479 |
Total cholesterol:Gene expression
change of CCDC151 (ENSG00000198003) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of CCDC151 (ENSG00000198003) in
dendritic cells:Gene expression of PRKCSH (ENSG00000130175) in dendritic
cells treated with Mycobacterium tuberculosis |
|
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 |
12989560 |
2 |
DNASE2 |
G |
A |
exonic |
synonymous SNV |
DNASE2:NM_001375:exon4:c.C435T:p.S145S |
RS2293682 |
Irritible bowel syndrome:Arthritis
including non-Rheumatoid:LDL cholesterol:Gene expression of C19orf56 in
blood:Gene expression of PRDX2 in blood:Gene expression of MAST1///DNASE2 in
blood:Gene expression of GCDH in blood:Mitral annular calcium:Aortic valve
calcium |
|
19 |
13010520 |
2 |
GCDH |
A |
G |
exonic |
nonsynonymous SNV |
GCDH:NM_013976:exon12:c.A1250G:p.Q417R |
RS8012 |
Rheumatoid arthritis:Gene
expression of GCDH in blood cells in Celiac disease:Gene expression of GCDH
[probe ILMN_9055] in osteoblasts treated with dexamethasone:Gene expression
of GCDH [probe ILMN_9055] in osteoblasts treated with PGE2:Gene expression of
MAST1 [transcript NM_014975, probe A_23_P101480] in liver:Gene expression of
MAST1///DNASE2 in blood:Gene expression of PRDX2 in blood:Gene expression of
GCDH in blood:Resistance to kuru in aged women despite likely exposure:Gene
expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in
cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID
ILMN_2296843) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in
Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID
ILMN_1797482) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of GCDH (probeID ILMN_1797482) in cerebellum in non-Alzheimer's
disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum
in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843)
in temporal cortex in Alzheimer's disease cases:Gene expression of GCDH
(probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of GCDH (probeID
ILMN_2296843) in cerebellum in non-Alzheimer's disease samples:Gene
expression of GCDH (probeID ILMN_2296843) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in
temporal cortex in Alzheimer's disease cases |
19 |
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 |
14682804 |
2 |
NDUFB7 |
G |
C |
exonic |
synonymous SNV |
NDUFB7:NM_004146:exon1:c.C9G:p.A3A |
RS9543 |
HOMA-B:Total cholesterol:Diastolic
blood pressure (DBP) |
|
19 |
15233581 |
2 |
ILVBL |
C |
A |
exonic |
synonymous SNV |
ILVBL:NM_006844:exon6:c.G639T:p.L213L |
RS2074265 |
2 hour glucose:Gene expression of
ILVBL in peripheral blood monocytes:Age at death with kuru exposure:Advanced
age-related macular degeneration:Gene expression of ILVBL in normal prepouch
ileum:Aspirin-exacerbated respiratory disease |
|
19 |
15285052 |
2 |
NOTCH3 |
T |
C |
exonic |
synonymous SNV |
NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P |
|
19 |
15292437 |
2 |
NOTCH3 |
T |
C |
exonic |
synonymous SNV |
NOTCH3:NM_000435:exon17:c.A2742G:p.P914P |
|
19 |
15302844 |
2 |
NOTCH3 |
T |
C |
exonic |
synonymous SNV |
NOTCH3:NM_000435:exon4:c.A606G:p.A202A |
|
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 |
15784386 |
2 |
CYP4F12 |
C |
T |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon2:c.C47T:p.T16M |
|
19 |
15789140 |
2 |
CYP4F12 |
A |
G |
exonic |
nonsynonymous SNV |
CYP4F12:NM_023944:exon3:c.A268G:p.I90V |
|
19 |
16339715 |
2 |
AP1M1 |
C |
T |
exonic |
synonymous SNV |
AP1M1:NM_032493:exon9:c.C1023T:p.I341I,AP1M1:NM_001130524:exon10:c.C1059T:p.I353I |
RS3752797 |
Chronic kidney disease:HDL
cholesterol:Years of education:Gene expression of AP1M1 in normal prepouch
ileum:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
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 |
17886940 |
2 |
FCHO1 |
G |
A |
exonic |
synonymous SNV |
FCHO1:NM_001161359:exon14:c.G1002A:p.A334A,FCHO1:NM_001161358:exon15:c.G1152A:p.A384A,FCHO1:NM_001161357:exon16:c.G1152A:p.A384A,FCHO1:NM_015122:exon16:c.G1152A:p.A384A |
RS2287854 |
Total cholesterol:LDL cholesterol
change with statins:Chronic kidney disease |
|
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 |
18255359 |
2 |
MAST3 |
G |
A |
exonic |
nonsynonymous SNV |
MAST3:NM_015016:exon22:c.G2581A:p.G861S |
RS8108738 |
HDL cholesterol:Cystatin C in
serum:Diastolic blood pressure (DBP):Gene expression of IL12RB1 in blood:Gene
expression of MAST3 in blood:Transmission distortion |
|
19 |
18257750 |
2 |
MAST3 |
C |
T |
exonic |
synonymous SNV |
MAST3:NM_015016:exon25:c.C3135T:p.G1045G |
RS2072490 |
HDL cholesterol:Cystatin C in serum |
|
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 |
18480609 |
2 |
PGPEP1 |
C |
T |
exonic |
synonymous SNV |
PGPEP1:NM_001329471:exon5:c.C531T:p.P177P |
RS7226 |
Irritible bowel
syndrome:Triglycerides:Gene expression of LRRC25///PGPEP1 in blood:Gene
expression of ELL///PGPEP1 in blood:PROP taste detection threshold:Tetrology
of fallot |
|
19 |
18497024 |
2 |
GDF15 |
G |
C |
exonic |
nonsynonymous SNV |
GDF15:NM_004864:exon1:c.G25C:p.V9L |
RS1059519 |
PROP taste detection
threshold:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
18679379 |
2 |
KXD1 |
C |
G |
exonic |
nonsynonymous SNV |
KXD1:NM_001171949:exon5:c.C469G:p.P157A,KXD1:NM_024069:exon5:c.C469G:p.P157A,KXD1:NM_001171948:exon6:c.C469G:p.P157A |
|
19 |
18980172 |
2 |
GDF1 |
G |
A |
exonic |
nonsynonymous SNV |
GDF1:NM_001492:exon8:c.C353T:p.A118V |
|
19 |
19011244 |
2 |
COPE |
T |
C |
exonic |
synonymous SNV |
COPE:NM_199442:exon7:c.A597G:p.P199P,COPE:NM_199444:exon7:c.A594G:p.P198P,COPE:NM_007263:exon8:c.A750G:p.P250P,COPE:NM_001330469:exon9:c.A819G:p.P273P |
RS1127821 |
Neuroblastoma (brain
cancer):Adiponectin levels:Gene expression of DDX49 (ENSG00000105671) in
dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
19040312 |
2 |
HOMER3 |
G |
C |
exonic |
nonsynonymous SNV |
HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R |
|
19 |
19049198 |
2 |
HOMER3 |
G |
A |
exonic |
synonymous SNV |
HOMER3:NM_001145724:exon3:c.C267T:p.Y89Y,HOMER3:NM_001145721:exon4:c.C267T:p.Y89Y,HOMER3:NM_001145722:exon4:c.C267T:p.Y89Y,HOMER3:NM_004838:exon4:c.C267T:p.Y89Y |
RS1064351 |
LDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Adiponectin levels |
|
19 |
19735257 |
2 |
LPAR2 |
G |
T |
exonic |
synonymous SNV |
LPAR2:NM_004720:exon3:c.C864A:p.S288S |
|
19 |
20002439 |
2 |
ZNF253 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF253:NM_001331134:exon2:c.G155T:p.G52V,ZNF253:NM_001331133:exon3:c.G191T:p.G64V,ZNF253:NM_021047:exon4:c.G383T:p.G128V |
|
19 |
20003109 |
2 |
ZNF253 |
A |
G |
exonic |
synonymous SNV |
ZNF253:NM_001331134:exon2:c.A825G:p.L275L,ZNF253:NM_001331133:exon3:c.A861G:p.L287L,ZNF253:NM_021047:exon4:c.A1053G:p.L351L |
|
19 |
21300462 |
2 |
ZNF714 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF714:NM_182515:exon5:c.A992G:p.K331R |
RS2884554 |
Gene expression of ZNF714 (probeID
ILMN_1748254) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of ZNF714 (probeID ILMN_1748254) in temporal cortex in Alzheimer's
disease cases and controls:Advanced age-related macular degeneration
(geographic atrophy) |
|
19 |
21365595 |
1 |
ZNF431 |
G |
A |
exonic |
synonymous SNV |
ZNF431:NM_001319124:exon5:c.G492A:p.E164E,ZNF431:NM_133473:exon5:c.G489A:p.E163E,ZNF431:NM_001319126:exon6:c.G216A:p.E72E,ZNF431:NM_001319127:exon6:c.G168A:p.E56E |
|
19 |
21476641 |
1 |
ZNF708 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF708:NM_001297561:exon3:c.C935G:p.S312C,ZNF708:NM_001297560:exon4:c.C935G:p.S312C,ZNF708:NM_021269:exon4:c.C1127G:p.S376C |
|
19 |
21476689 |
1 |
ZNF708 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF708:NM_001297561:exon3:c.A887G:p.E296G,ZNF708:NM_001297560:exon4:c.A887G:p.E296G,ZNF708:NM_021269:exon4:c.A1079G:p.E360G |
|
19 |
23837365 |
2 |
ZNF675 |
A |
C |
exonic |
nonsynonymous SNV |
ZNF675:NM_138330:exon4:c.T370G:p.L124V |
|
19 |
23926708 |
2 |
ZNF681 |
A |
G |
exonic |
synonymous SNV |
ZNF681:NM_138286:exon4:c.T1644C:p.H548H |
|
19 |
29698809 |
1 |
UQCRFS1 |
G |
A |
exonic |
synonymous SNV |
UQCRFS1:NM_006003:exon2:c.C471T:p.S157S |
|
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 |
30101339 |
1 |
POP4 |
G |
A |
exonic |
synonymous SNV |
POP4:NM_006627:exon3:c.G84A:p.E28E |
|
19 |
30193721 |
1 |
C19orf12 |
G |
A |
exonic |
synonymous SNV |
C19orf12:NM_001282929:exon2:c.C132T:p.T44T,C19orf12:NM_001282930:exon2:c.C132T:p.T44T,C19orf12:NM_001031726:exon3:c.C357T:p.T119T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_031448:exon3:c.C324T:p.T108T,C19orf12:NM_001282931:exon4:c.C132T:p.T44T |
|
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 |
33117666 |
2 |
ANKRD27 |
T |
C |
exonic |
synonymous SNV |
ANKRD27:NM_032139:exon16:c.A1488G:p.G496G |
RS6510271 |
LDL cholesterol:HDL cholesterol:LDL
cholesterol:Suicide attempts in bipolar disorder (males):Lysine/valine ratio |
|
19 |
33390796 |
2 |
CEP89 |
G |
A |
exonic |
synonymous SNV |
CEP89:NM_032816:exon16:c.C1842T:p.N614N |
RS10418340 |
Lysine/valine ratio |
|
19 |
33605300 |
2 |
GPATCH1 |
A |
G |
exonic |
nonsynonymous SNV |
GPATCH1:NM_018025:exon15:c.A2171G:p.H724R |
RS10416265 |
Gene expression of LRP3 in
blood:Gene expression of GPATCH1 in blood:Age at death with kuru
exposure:Lumbar spine bone mineral density (BMD):Gene expression of GPATCH1
(probeID ILMN_1655625) in cerebellum in non-Alzheimer's disease samples: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 Alzheimer's disease cases and
controls:Hypertension (early onset hypertension):Gene expression of RHPN2
(probeID ILMN_1753143) in cerebellum in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Femoral neck bone mineral density (BMD):Gene
expression of GPATCH1 (probeID ILMN_1655625) in temporal cortex in
Alzheimer's disease cases:Gene expression of GPATCH1 (probeID ILMN_1655625)
in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of
GPATCH1 (probeID ILMN_1655625) in cerebellum in Alzheimer's disease cases:Advanced
age-related macular degeneration:Gene expression of RHPN2 (probeID
ILMN_1753143) in temporal cortex in Alzheimer's disease cases and controls |
19 |
33698291 |
1 |
LRP3 |
T |
C |
exonic |
nonsynonymous SNV |
LRP3:NM_002333:exon7:c.T2123C:p.V708A |
RS3745974 |
Autism with verbal ability:Autism |
|
19 |
34842488 |
2 |
KIAA0355 |
T |
C |
exonic |
synonymous SNV |
KIAA0355:NM_014686:exon13:c.T2895C:p.D965D |
RS392340 |
HDL cholesterol:Urinary
albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Gene expression
change of PDCD2L (ENSG00000126249) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
19 |
34843761 |
2 |
KIAA0355 |
C |
A |
exonic |
synonymous SNV |
KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P |
|
19 |
34959979 |
2 |
UBA2 |
A |
G |
exonic |
synonymous SNV |
UBA2:NM_005499:exon17:c.A1776G:p.S592S |
RS7259160 |
Autism:Adiponectin levels |
|
19 |
34973413 |
2 |
WTIP |
T |
C |
exonic |
synonymous SNV |
WTIP:NM_001080436:exon1:c.T534C:p.A178A |
|
19 |
35175775 |
1 |
ZNF302 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF302:NM_001012320:exon5:c.C833T:p.T278I,ZNF302:NM_001289182:exon5:c.C836T:p.T279I,ZNF302:NM_001289183:exon5:c.C833T:p.T278I,ZNF302:NM_001289184:exon5:c.C836T:p.T279I,ZNF302:NM_001289185:exon5:c.C836T:p.T279I,ZNF302:NM_001289186:exon5:c.C833T:p.T278I,ZNF302:NM_001289187:exon5:c.C833T:p.T278I,ZNF302:NM_018443:exon5:c.C833T:p.T278I,ZNF302:NM_001289181:exon6:c.C965T:p.T322I |
RS11543232 |
Lp-PLA2 mass |
|
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 |
35434238 |
1 |
ZNF30 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF30:NM_001099437:exon5:c.A371G:p.Q124R,ZNF30:NM_001099438:exon5:c.A371G:p.Q124R,ZNF30:NM_194325:exon5:c.A368G:p.Q123R |
RS1811 |
LDL cholesterol:Gene expression of
ZNF792 in peripheral blood monocytes:Total cholesterol:Gene expression of
FLJ38451 [probe ILMN_19229] in osteoblasts treated with
dexamethasone:Lysine/valine ratio:Gene expression of ZNF792 in blood:Gene
expression of ZNF30 in blood |
|
19 |
35435006 |
1 |
ZNF30 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF30:NM_001099437:exon5:c.G1139A:p.R380K,ZNF30:NM_001099438:exon5:c.G1139A:p.R380K,ZNF30:NM_194325:exon5:c.G1136A:p.R379K |
RS1345658 |
LDL cholesterol:Total
cholesterol:Lysine/valine ratio:Gene expression of ZNF792 in blood:Gene
expression of ZNF30 in blood:Hypertension (early onset hypertension):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
36530562 |
1 |
THAP8 |
T |
C |
exonic |
nonsynonymous SNV |
THAP8:NM_001331102:exon3:c.A335G:p.K112R,THAP8:NM_001331103:exon3:c.A206G:p.K69R,THAP8:NM_001331104:exon3:c.A206G:p.K69R,THAP8:NM_152658:exon3:c.A335G:p.K112R |
RS3810450 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Adiponectin levels:Mitral annular calcium |
|
19 |
36592627 |
1 |
WDR62 |
G |
A |
exonic |
synonymous SNV |
WDR62:NM_001083961:exon25:c.G3033A:p.P1011P,WDR62:NM_173636:exon25:c.G3033A:p.P1011P |
|
19 |
36594659 |
1 |
WDR62 |
A |
T |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L |
RS2074435 |
Lung function, predicted ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):College completion |
|
19 |
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 |
37879589 |
2 |
ZNF527 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF527:NM_032453:exon5:c.A638G:p.H213R |
RS4452075 |
2 hour glucose:Fasting
insulin:HOMA-IR:LDL cholesterol change with statins:Triglycerides:Age at
death with kuru exposure |
|
19 |
38189616 |
1 |
ZNF607 |
T |
C |
exonic |
synonymous SNV |
ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T |
|
19 |
39196745 |
1 |
ACTN4 |
C |
T |
exonic |
synonymous SNV |
ACTN4:NM_001322033:exon5:c.C546T:p.N182N,ACTN4:NM_004924:exon5:c.C546T:p.N182N |
RS3745859 |
HDL
cholesterol:Triglycerides:Bipolar disorder:Adiponectin levels:Birth weight |
|
19 |
39913634 |
1 |
PLEKHG2 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_001351693:exon18:c.G1763A:p.R588H,PLEKHG2:NM_022835:exon18:c.G1940A:p.R647H |
RS10407035 |
Barnes Akathisia Rating Scale:Late
onset Alzheimer's disease:Gene expression of CCM2 in blood:Diastolic blood
pressure (DBP):Tetrology of fallot:Gene expression of RPS16 in normal
prepouch ileum |
|
19 |
39914748 |
1 |
PLEKHG2 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K |
RS31726 |
Gene expression of RPS16 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression
of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential
exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL
cholesterol change with statins:Total cholesterol change with
statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene
expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension
(early onset hypertension):Aortic valve calcium:Maternal transmission
distortion |
|
19 |
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 |
40023308 |
2 |
EID2B |
A |
G |
exonic |
synonymous SNV |
EID2B:NM_152361:exon1:c.T135C:p.A45A |
|
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 |
41627401 |
2 |
CYP2F1 |
G |
C |
exonic |
nonsynonymous SNV |
CYP2F1:NM_000774:exon5:c.G523C:p.V175L |
|
19 |
41627402 |
2 |
CYP2F1 |
T |
G |
exonic |
nonsynonymous SNV |
CYP2F1:NM_000774:exon5:c.T524G:p.V175G |
|
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 |
41903220 |
1 |
EXOSC5 |
G |
A |
exonic |
nonsynonymous SNV |
EXOSC5:NM_020158:exon1:c.C14T:p.T5M |
RS10853751 |
Eye color:Stabilized warfarin
dose:Differential exon level expression of TMEM91 [probe 3834195] in
peripheral blood mononuclear cells:2 hour glucose:Fasting
insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Height:Gene expression of
EXOSC5 [transcript NM_020158, probe A_24_P211151] in liver:Gene expression of
BCKDHA///B3GNT8 in blood:Gene expression of BCKDHA///ATP5SL in blood:Gene
expression of TMEM91 in blood:Advanced age-related macular degeneration:Gene
expression of BCKDHA in normal prepouch ileum:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
41928652 |
1 |
BCKDHA |
C |
T |
exonic |
synonymous SNV |
BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F |
RS284652 |
Gene expression of BCKDHA in normal
prepouch ileum |
|
19 |
41930396 |
1 |
BCKDHA |
A |
G |
exonic |
synonymous SNV |
BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L |
RS4674 |
2 hour glucose:Fasting
insulin:HOMA-B:Chronic kidney disease:Height:Advanced age-related macular
degeneration:Coronary artery disease (CAD):Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Gene expression of
BCKDHA in normal prepouch ileum |
|
19 |
41939297 |
1 |
ATP5SL |
C |
G |
exonic |
nonsynonymous SNV |
ATP5SL:NM_001167871:exon4:c.G395C:p.C132S,ATP5SL:NM_001320839:exon4:c.G413C:p.C138S,ATP5SL:NM_001320840:exon4:c.G413C:p.C138S,ATP5SL:NM_001320844:exon4:c.G395C:p.C132S,ATP5SL:NM_001167867:exon5:c.G494C:p.C165S,ATP5SL:NM_018035:exon5:c.G476C:p.C159S |
RS1043413 |
Exon skipping of ATP5SL [probeset
3863093] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Fasting
insulin:Height:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
19 |
42736267 |
2 |
GSK3A |
A |
G |
exonic |
synonymous SNV |
GSK3A:NM_019884:exon10:c.T1320C:p.L440L |
|
19 |
44047550 |
2 |
XRCC1 |
T |
C |
exonic |
synonymous SNV |
XRCC1:NM_006297:exon17:c.A1896G:p.Q632Q |
|
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 |
44496070 |
1 |
ZNF155 |
A |
G |
exonic |
synonymous SNV |
ZNF155:NM_001260486:exon4:c.A219G:p.Q73Q,ZNF155:NM_001260487:exon4:c.A219G:p.Q73Q,ZNF155:NM_003445:exon4:c.A219G:p.Q73Q,ZNF155:NM_198089:exon4:c.A219G:p.Q73Q,ZNF155:NM_001260488:exon5:c.A252G:p.Q84Q |
|
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 |
44515352 |
1 |
ZNF230 |
T |
G |
exonic |
synonymous SNV |
ZNF230:NM_006300:exon5:c.T1161G:p.T387T |
RS1060880 |
Triglycerides:HOMA-B:Rheumatoid
arthritis:Methylation levels at chr19:49221102-49221152 [hg18 coord, probe
cg10604333] in Temporal cortex:LDL cholesterol:Total cholesterol |
|
19 |
44515514 |
1 |
ZNF230 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF230:NM_006300:exon5:c.C1323A:p.D441E |
RS12753 |
Triglycerides:HOMA-B:Rheumatoid
arthritis:Methylation levels at chr19:49221102-49221152 [hg18 coord, probe
cg10604333] in Temporal cortex:LDL cholesterol:Total cholesterol |
|
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 |
44571154 |
1 |
ZNF223 |
T |
C |
exonic |
synonymous SNV |
ZNF223:NM_013361:exon5:c.T1173C:p.H391H |
|
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 |
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 |
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 |
45490570 |
1 |
CLPTM1 |
A |
G |
exonic |
synonymous SNV |
CLPTM1:NM_001282175:exon8:c.A885G:p.P295P,CLPTM1:NM_001282176:exon8:c.A621G:p.P207P,CLPTM1:NM_001294:exon8:c.A927G:p.P309P |
RS3786505 |
HDL cholesterol:HOMA-B:HDL
cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Height:Gene
expression of APOC4 [transcript NM_001646, probe A_23_P27450] in liver |
|
19 |
45490636 |
1 |
CLPTM1 |
T |
C |
exonic |
synonymous SNV |
CLPTM1:NM_001282175:exon8:c.T951C:p.G317G,CLPTM1:NM_001282176:exon8:c.T687C:p.G229G,CLPTM1:NM_001294:exon8:c.T993C:p.G331G |
RS204468 |
HDL cholesterol:HOMA-B:HDL
cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Gene
expression of RELB (ENSG00000104856) in dendritic cells treated with
Mycobacterium tuberculosis:Gene expression of ZNF296 (ENSG00000170684) in
dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
45561063 |
2 |
CLASRP |
A |
G |
exonic |
nonsynonymous SNV |
CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E |
|
19 |
45801018 |
2 |
MARK4 |
T |
C |
exonic |
synonymous SNV |
MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R |
|
19 |
45912002 |
1 |
CD3EAP |
A |
C |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.A782C:p.K261T,CD3EAP:NM_012099:exon3:c.A776C:p.K259T |
RS735482 |
Gene expression of ERCC1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic
kidney disease:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of
VASP in blood:Gene expression of ERCC1 in blood:Bipolar disorder:Resistance to
kuru in aged women despite likely exposure:Salmonella-induced pyroptosis |
|
19 |
45912343 |
1 |
CD3EAP |
A |
G |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E,CD3EAP:NM_012099:exon3:c.A1117G:p.K373E |
RS762562 |
Chronic kidney disease:Serum
creatinine:Cystatin C in serum:Salmonella-induced pyroptosis |
|
19 |
45912406 |
1 |
CD3EAP |
G |
A |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N,CD3EAP:NM_012099:exon3:c.G1180A:p.D394N |
RS2336219 |
Gene expression of ERCC1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic
kidney disease:Gene expression of ERCC1 in peripheral blood monocytes:Gene
expression of ERCC1 in blood:Gene expression of CD3EAP///ERCC1 in blood:Gene
expression of VASP in blood:Bipolar disorder:Resistance to kuru in aged women
despite likely exposure:Primary rhegmatogenous retinal
detachment:Salmonella-induced pyroptosis |
|
19 |
45923653 |
2 |
ERCC1 |
A |
G |
exonic |
synonymous SNV |
ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N |
RS11615 |
Cystatin C in serum:LDL
cholesterol:Plasma aldosterone concentration:Body mass index
(BMI):Neuroblastoma (brain cancer):Non-Hodgkin lymphoma (Diffuse large B-cell
lymphoma):Gene expression of FOSB in blood:Gene expression of VASP in
blood:Resistance to kuru in aged women despite likely exposure:Hypertension
(early onset hypertension):Primary rhegmatogenous retinal detachment |
|
19 |
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 |
46404579 |
2 |
MYPOP |
A |
G |
exonic |
synonymous SNV |
MYPOP:NM_001012643:exon2:c.T453C:p.P151P |
|
19 |
46520026 |
2 |
CCDC61 |
A |
G |
exonic |
nonsynonymous SNV |
CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R |
RS2287306 |
LDL cholesterol:Total
cholesterol:HDL cholesterol:LDL cholesterol |
|
19 |
47177913 |
2 |
PRKD2 |
A |
G |
exonic |
nonsynonymous SNV |
PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A |
|
19 |
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 |
47980153 |
1 |
KPTN |
G |
A |
exonic |
synonymous SNV |
KPTN:NM_001291296:exon8:c.C738T:p.P246P,KPTN:NM_007059:exon10:c.C906T:p.P302P |
RS2293424 |
Tardive dyskinesia:Abnormal
Involuntary Movement Scale:Barnes Akathisia Rating Scale:Major depressive
disorder:Total cholesterol:HDL cholesterol:Infant head circumference:Gene
expression of ZNF541 (ENSG00000118156) in dendritic cells |
|
19 |
48182946 |
2 |
BICRA |
T |
C |
exonic |
synonymous SNV |
BICRA:NM_015711:exon6:c.T519C:p.P173P |
|
19 |
48183114 |
2 |
BICRA |
A |
G |
exonic |
synonymous SNV |
BICRA:NM_015711:exon6:c.A687G:p.T229T |
|
19 |
48244194 |
2 |
EHD2 |
A |
G |
exonic |
synonymous SNV |
EHD2:NM_014601:exon6:c.A1137G:p.L379L |
RS7255434 |
Triglycerides:Triglycerides |
|
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 |
50140092 |
2 |
RRAS |
G |
A |
exonic |
synonymous SNV |
RRAS:NM_006270:exon3:c.C333T:p.N111N |
RS1865077 |
Differential exon level expression
of RRAS [probe 3867971] in peripheral blood mononuclear cells:Premature
ovarian failure:Simpson-Angus Scale:HOMA-B:Microalbuminuria:Gene expression
of IRF3 in blood:Gene expression of NOSIP in blood:Paternal transmission
distortion:Transmission distortion |
|
19 |
50154904 |
2 |
SCAF1 |
A |
C |
exonic |
nonsynonymous SNV |
SCAF1:NM_021228:exon7:c.A1258C:p.T420P |
|
19 |
50156896 |
2 |
SCAF1 |
T |
C |
exonic |
synonymous SNV |
SCAF1:NM_021228:exon7:c.T3250C:p.L1084L |
|
19 |
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 |
50412417 |
2 |
NUP62 |
G |
A |
exonic |
synonymous SNV |
NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S |
RS999583 |
Urinary albumin-to-creatinine ratio |
|
19 |
50726570 |
1 |
MYH14 |
G |
A |
exonic |
synonymous SNV |
MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A |
RS4801822 |
LDL cholesterol:Coronary artery
disease (CAD):Salmonella-induced pyroptosis |
|
19 |
50762418 |
2 |
MYH14 |
A |
G |
exonic |
synonymous SNV |
MYH14:NM_024729:exon17:c.A2127G:p.P709P,MYH14:NM_001077186:exon18:c.A2151G:p.P717P,MYH14:NM_001145809:exon19:c.A2250G:p.P750P |
|
19 |
50796905 |
2 |
MYH14 |
G |
A |
exonic |
synonymous SNV |
MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S |
RS3745509 |
2 hour glucose:Obesity with early
age of onset (age >2):Mitral annular calcium |
|
19 |
51607507 |
1 |
CTU1 |
G |
A |
exonic |
nonsynonymous SNV |
CTU1:NM_145232:exon2:c.C320T:p.A107V |
|
19 |
53117531 |
2 |
ZNF83 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF83:NM_001277951:exon3:c.G287A:p.S96N,ZNF83:NM_018300:exon3:c.G287A:p.S96N,ZNF83:NM_001105552:exon4:c.G287A:p.S96N,ZNF83:NM_001277946:exon4:c.G287A:p.S96N,ZNF83:NM_001348016:exon4:c.G287A:p.S96N,ZNF83:NM_001105550:exon5:c.G287A:p.S96N,ZNF83:NM_001105551:exon5:c.G287A:p.S96N,ZNF83:NM_001277948:exon5:c.G287A:p.S96N,ZNF83:NM_001277949:exon5:c.G287A:p.S96N,ZNF83:NM_001277952:exon5:c.G287A:p.S96N,ZNF83:NM_001105549:exon6:c.G287A:p.S96N,ZNF83:NM_001277945:exon6:c.G287A:p.S96N,ZNF83:NM_001277947:exon6:c.G287A:p.S96N,ZNF83:NM_001348018:exon6:c.G287A:p.S96N,ZNF83:NM_001348015:exon7:c.G287A:p.S96N,ZNF83:NM_001348017:exon7:c.G287A:p.S96N,ZNF83:NM_001348019:exon7:c.G287A:p.S96N |
RS1056185 |
Hip bone mineral density (BMD):PROP
taste detection threshold |
|
19 |
53117809 |
2 |
ZNF83 |
C |
A |
exonic |
synonymous SNV |
ZNF83:NM_001277951:exon3:c.G9T:p.G3G,ZNF83:NM_018300:exon3:c.G9T:p.G3G,ZNF83:NM_001105552:exon4:c.G9T:p.G3G,ZNF83:NM_001277946:exon4:c.G9T:p.G3G,ZNF83:NM_001348016:exon4:c.G9T:p.G3G,ZNF83:NM_001105550:exon5:c.G9T:p.G3G,ZNF83:NM_001105551:exon5:c.G9T:p.G3G,ZNF83:NM_001277948:exon5:c.G9T:p.G3G,ZNF83:NM_001277949:exon5:c.G9T:p.G3G,ZNF83:NM_001277952:exon5:c.G9T:p.G3G,ZNF83:NM_001105549:exon6:c.G9T:p.G3G,ZNF83:NM_001277945:exon6:c.G9T:p.G3G,ZNF83:NM_001277947:exon6:c.G9T:p.G3G,ZNF83:NM_001348018:exon6:c.G9T:p.G3G,ZNF83:NM_001348015:exon7:c.G9T:p.G3G,ZNF83:NM_001348017:exon7:c.G9T:p.G3G,ZNF83:NM_001348019:exon7:c.G9T:p.G3G |
RS10406458 |
PROP taste detection threshold |
|
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 |
53384185 |
1 |
ZNF320 |
C |
T |
exonic |
synonymous SNV |
ZNF320:NM_207333:exon4:c.G1194A:p.A398A |
RS6509701 |
Rheumatoid arthritis:Alzheimer's
disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms
v. controls):Alzheimer's disease with psychotic symptoms (Alzheimer's disease
with psychotic symptoms v. Alzheimer's disease without psychotic symptoms):Resistance
to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob
disease |
|
19 |
53454789 |
1 |
ZNF816 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF816:NM_001202456:exon4:c.T239A:p.I80N,ZNF816:NM_001202457:exon4:c.T239A:p.I80N,ZNF816:NM_001031665:exon5:c.T239A:p.I80N |
RS12459008 |
Barnes Akathisia Rating
Scale:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Lp-PLA2
mass:Rheumatoid arthritis:Gene expression of ZNF702 in peripheral blood
monocytes:Urinary albumin-to-creatinine ratio |
|
19 |
53572059 |
1 |
ZNF160 |
T |
C |
exonic |
synonymous SNV |
ZNF160:NM_001322136:exon5:c.A1728G:p.Q576Q,ZNF160:NM_001322129:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001322131:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001322135:exon6:c.A1728G:p.Q576Q,ZNF160:NM_033288:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001102603:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322128:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322130:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322132:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322133:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322134:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322138:exon7:c.A1620G:p.Q540Q,ZNF160:NM_198893:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322137:exon8:c.A1620G:p.Q540Q,ZNF160:NM_001322139:exon9:c.A1620G:p.Q540Q |
|
19 |
53572494 |
1 |
ZNF160 |
G |
T |
exonic |
synonymous SNV |
ZNF160:NM_001322136:exon5:c.C1293A:p.G431G,ZNF160:NM_001322129:exon6:c.C1293A:p.G431G,ZNF160:NM_001322131:exon6:c.C1293A:p.G431G,ZNF160:NM_001322135:exon6:c.C1293A:p.G431G,ZNF160:NM_033288:exon6:c.C1293A:p.G431G,ZNF160:NM_001102603:exon7:c.C1293A:p.G431G,ZNF160:NM_001322128:exon7:c.C1293A:p.G431G,ZNF160:NM_001322130:exon7:c.C1293A:p.G431G,ZNF160:NM_001322132:exon7:c.C1293A:p.G431G,ZNF160:NM_001322133:exon7:c.C1293A:p.G431G,ZNF160:NM_001322134:exon7:c.C1293A:p.G431G,ZNF160:NM_001322138:exon7:c.C1185A:p.G395G,ZNF160:NM_198893:exon7:c.C1293A:p.G431G,ZNF160:NM_001322137:exon8:c.C1185A:p.G395G,ZNF160:NM_001322139:exon9:c.C1185A:p.G395G |
|
19 |
53572917 |
1 |
ZNF160 |
G |
A |
exonic |
synonymous SNV |
ZNF160:NM_001322136:exon5:c.C870T:p.C290C,ZNF160:NM_001322129:exon6:c.C870T:p.C290C,ZNF160:NM_001322131:exon6:c.C870T:p.C290C,ZNF160:NM_001322135:exon6:c.C870T:p.C290C,ZNF160:NM_033288:exon6:c.C870T:p.C290C,ZNF160:NM_001102603:exon7:c.C870T:p.C290C,ZNF160:NM_001322128:exon7:c.C870T:p.C290C,ZNF160:NM_001322130:exon7:c.C870T:p.C290C,ZNF160:NM_001322132:exon7:c.C870T:p.C290C,ZNF160:NM_001322133:exon7:c.C870T:p.C290C,ZNF160:NM_001322134:exon7:c.C870T:p.C290C,ZNF160:NM_001322138:exon7:c.C762T:p.C254C,ZNF160:NM_198893:exon7:c.C870T:p.C290C,ZNF160:NM_001322137:exon8:c.C762T:p.C254C,ZNF160:NM_001322139:exon9:c.C762T:p.C254C |
RS10407463 |
Fasting blood glucose:Cystatin C in
serum:LDL cholesterol:Total cholesterol:Diastolic blood pressure
(DBP):Bipolar disorder |
|
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 |
53958126 |
2 |
ZNF761;ZNF765-ZNF761 |
T |
G |
exonic |
nonsynonymous SNV |
ZNF761:NM_001289951:exon6:c.T365G:p.I122S,ZNF761:NM_001289952:exon6:c.T365G:p.I122S,ZNF761:NM_001008401:exon7:c.T365G:p.I122S,ZNF765-ZNF761:NM_001350496:exon14:c.T365G:p.I122S |
RS2708743 |
HDL cholesterol:HDL
cholesterol:Chronic kidney disease:Lp-PLA2 mass:College completion:Prostate
cancer |
|
19 |
53958263 |
2 |
ZNF761;ZNF765-ZNF761 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I |
RS1984432 |
HDL cholesterol:Schizophrenia:HDL
cholesterol:Gene expression of TEP1 in peripheral blood monocytes:Gene
expression of FLJ16231 in CD4+ lymphocytes:Adiponectin levels:College
completion |
|
19 |
54649671 |
2 |
CNOT3 |
T |
C |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon9:c.T729C:p.P243P |
|
19 |
54652203 |
1 |
CNOT3 |
T |
C |
exonic |
synonymous SNV |
CNOT3:NM_014516:exon11:c.T1215C:p.G405G |
RS43211 |
HDL cholesterol change with
statins:Cystatin C in serum:Triglycerides:Parkinson's disease |
|
19 |
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 |
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 |
55598724 |
2 |
EPS8L1 |
A |
G |
exonic |
nonsynonymous SNV |
EPS8L1:NM_017729:exon14:c.A1625G:p.K542R,EPS8L1:NM_133180:exon19:c.A2006G:p.K669R |
RS1054940 |
Longstanding arthritis:HDL
cholesterol:Asthma:Gene expression of TMEM86B in blood:Years of
education:College completion |
|
19 |
55913038 |
1 |
UBE2S |
C |
T |
exonic |
synonymous SNV |
UBE2S:NM_014501:exon4:c.G435A:p.A145A |
|
19 |
55994240 |
2 |
ZNF628 |
C |
T |
exonic |
synonymous SNV |
ZNF628:NM_033113:exon3:c.C1680T:p.H560H |
|
19 |
56104136 |
1 |
FIZ1 |
T |
C |
exonic |
nonsynonymous SNV |
FIZ1:NM_032836:exon3:c.A1171G:p.T391A |
|
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 |
56935527 |
2 |
ZNF583 |
A |
G |
exonic |
synonymous SNV |
ZNF583:NM_001159860:exon5:c.A1500G:p.A500A,ZNF583:NM_001159861:exon5:c.A1500G:p.A500A,ZNF583:NM_152478:exon5:c.A1500G:p.A500A |
RS3810340 |
Lung function, predicted ratio of
forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Triglycerides change with statins:Platelet aggregation to high
dose adp post-aspirin adjusted for pre-aspirin, in European ancestry:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ZNF667
(probeID ILMN_2186127) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF667 (probeID ILMN_2186127) in temporal cortex
in non-Alzheimer's disease samples:Gene expression of ZNF667 (probeID
ILMN_2186127) in temporal cortex in Alzheimer's disease cases:Gene expression
of ZNF667 (probeID ILMN_2186127) in cerebellum in Alzheimer's disease
cases:Aortic valve calcium:Gene expression of ZNF667 (probeID ILMN_2186127)
in cerebellum in Alzheimer's disease cases and controls |
|
19 |
57672080 |
2 |
DUXA |
C |
T |
exonic |
synonymous SNV |
DUXA:NM_001012729:exon2:c.G111A:p.K37K |
|
19 |
57839150 |
2 |
ZNF543 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF543:NM_213598:exon4:c.A320G:p.Q107R |
|
19 |
57839567 |
2 |
ZNF543 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF543:NM_213598:exon4:c.T737A:p.L246H |
|
19 |
57865149 |
1 |
ZNF304 |
C |
T |
exonic |
synonymous SNV |
ZNF304:NM_001290318:exon2:c.C90T:p.L30L,ZNF304:NM_020657:exon2:c.C90T:p.L30L |
|
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 |
58355699 |
2 |
ZNF587B |
T |
C |
exonic |
nonsynonymous SNV |
ZNF587B:NM_001204818:exon4:c.T1198C:p.C400R |
|
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 |
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 |
58879965 |
2 |
ZNF837 |
A |
G |
exonic |
synonymous SNV |
ZNF837:NM_138466:exon3:c.T735C:p.S245S |
|
19 |
58879976 |
2 |
ZNF837 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF837:NM_138466:exon3:c.G724A:p.A242T |
|
19 |
58945962 |
2 |
ZNF132 |
C |
T |
exonic |
synonymous SNV |
ZNF132:NM_003433:exon3:c.G849A:p.K283K |
RS9941466 |
HDL cholesterol change with statins |
|
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 |
2633936 |
2 |
NOP56 |
T |
C |
exonic |
synonymous SNV |
NOP56:NM_006392:exon3:c.T105C:p.S35S |
|
20 |
2945759 |
1 |
PTPRA |
C |
T |
exonic |
nonsynonymous SNV |
PTPRA:NM_080840:exon5:c.C326T:p.P109L,PTPRA:NM_080841:exon5:c.C326T:p.P109L,PTPRA:NM_002836:exon9:c.C326T:p.P109L |
RS1178027 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:Asthma:Neuroblastoma (brain cancer) |
|
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 |
3870124 |
2 |
PANK2 |
G |
C |
exonic |
nonsynonymous SNV |
PANK2:NM_001324192:exon1:c.G377C:p.G126A,PANK2:NM_153638:exon1:c.G377C:p.G126A |
|
20 |
4164283 |
2 |
SMOX |
A |
G |
exonic |
synonymous SNV |
SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T |
RS1741327 |
Differential exon level expression
of SMOX [probe 3874654] in brain cortex:Gene expression of SMOX in
blood:Adiponectin levels |
|
20 |
5939214 |
1 |
MCM8 |
A |
C |
exonic |
synonymous SNV |
MCM8:NM_001281520:exon7:c.A631C:p.R211R,MCM8:NM_001281521:exon7:c.A631C:p.R211R,MCM8:NM_001281522:exon7:c.A631C:p.R211R,MCM8:NM_032485:exon7:c.A631C:p.R211R,MCM8:NM_182802:exon7:c.A631C:p.R211R |
RS3761873 |
Height:Birth weight:Hypertension
(early onset hypertension) |
|
20 |
5943956 |
1 |
MCM8 |
G |
C |
exonic |
nonsynonymous SNV |
MCM8:NM_001281520:exon8:c.G826C:p.A276P,MCM8:NM_001281521:exon8:c.G826C:p.A276P,MCM8:NM_001281522:exon8:c.G826C:p.A276P,MCM8:NM_032485:exon8:c.G826C:p.A276P,MCM8:NM_182802:exon8:c.G826C:p.A276P |
|
20 |
5948542 |
1 |
MCM8 |
G |
A |
exonic |
nonsynonymous SNV |
MCM8:NM_001281520:exon10:c.G1094A:p.S365N,MCM8:NM_001281521:exon10:c.G1094A:p.S365N,MCM8:NM_001281522:exon10:c.G1094A:p.S365N,MCM8:NM_032485:exon10:c.G1094A:p.S365N,MCM8:NM_182802:exon10:c.G1046A:p.S349N |
|
20 |
6751034 |
2 |
BMP2 |
A |
G |
exonic |
synonymous SNV |
BMP2:NM_001200:exon2:c.A261G:p.S87S |
|
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 |
13029764 |
2 |
SPTLC3 |
A |
C |
exonic |
synonymous SNV |
SPTLC3:NM_018327:exon2:c.A289C:p.R97R,SPTLC3:NM_001349945:exon3:c.A289C:p.R97R |
|
20 |
13695680 |
1 |
ESF1 |
C |
T |
exonic |
synonymous SNV |
ESF1:NM_001276380:exon14:c.G2397A:p.R799R,ESF1:NM_016649:exon14:c.G2397A:p.R799R |
RS6110019 |
HDL cholesterol:Adiponectin levels |
|
20 |
13747441 |
2 |
ESF1 |
A |
G |
exonic |
nonsynonymous SNV |
ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T |
RS3180370 |
HDL cholesterol change with
statins:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob
disease:Adiponectin levels:Years of education:Salmonella-induced
pyroptosis:Tetrology of fallot |
|
20 |
14306896 |
1 |
FLRT3 |
G |
A |
exonic |
synonymous SNV |
FLRT3:NM_013281:exon2:c.C1257T:p.T419T,FLRT3:NM_198391:exon3:c.C1257T:p.T419T |
RS6042672 |
Rheumatoid arthritis:Advanced
age-related macular degeneration (geographic atrophy) |
|
20 |
16359567 |
2 |
KIF16B |
A |
G |
exonic |
nonsynonymous SNV |
KIF16B:NM_001199865:exon19:c.T3080C:p.M1027T,KIF16B:NM_001199866:exon19:c.T3080C:p.M1027T,KIF16B:NM_024704:exon19:c.T3080C:p.M1027T |
RS6034464 |
Lp-PLA2 activity:Asthma:Gene
expression of C20orf23 in blood |
|
20 |
17605240 |
2 |
RRBP1 |
A |
T |
exonic |
nonsynonymous SNV |
RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H |
|
20 |
18143117 |
2 |
KAT14 |
T |
G |
exonic |
nonsynonymous SNV |
KAT14:NM_020536:exon6:c.T1199G:p.V400G |
|
20 |
18143355 |
2 |
KAT14 |
C |
T |
exonic |
synonymous SNV |
KAT14:NM_020536:exon6:c.C1437T:p.P479P |
RS1205194 |
Stabilized warfarin dose:Gene
expression of C20orf72 [probe ILMN_24256] in untreated osteoblasts:Resistance
to kuru in aged women despite likely exposure:Tetrology of fallot:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD:Primary
rhegmatogenous retinal detachment:Advanced age-related macular
degeneration:Hypertension (early onset hypertension) |
|
20 |
18167977 |
2 |
KAT14 |
T |
C |
exonic |
synonymous SNV |
KAT14:NM_020536:exon10:c.T2223C:p.P741P |
|
20 |
18296072 |
2 |
ZNF133 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T |
|
20 |
18462421 |
1 |
POLR3F |
A |
G |
exonic |
synonymous SNV |
POLR3F:NM_001282526:exon8:c.A717G:p.T239T,POLR3F:NM_006466:exon8:c.A840G:p.T280T |
RS1055171 |
Birth weight |
|
20 |
18523002 |
1 |
SEC23B |
C |
G |
exonic |
nonsynonymous SNV |
SEC23B:NM_001172745:exon13:c.C1467G:p.H489Q,SEC23B:NM_001172746:exon13:c.C1413G:p.H471Q,SEC23B:NM_006363:exon13:c.C1467G:p.H489Q,SEC23B:NM_032985:exon13:c.C1467G:p.H489Q,SEC23B:NM_032986:exon13:c.C1467G:p.H489Q |
RS2273526 |
Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene
expression of DTD1 (probeID ILMN_1774432) in cerebellum in Alzheimer's
disease cases and controls |
|
20 |
19970705 |
2 |
RIN2 |
C |
T |
exonic |
synonymous SNV |
RIN2:NM_018993:exon8:c.C1818T:p.H606H,RIN2:NM_001242581:exon9:c.C1965T:p.H655H |
RS2076584 |
College completion |
|
20 |
20032998 |
1 |
CRNKL1 |
T |
C |
exonic |
nonsynonymous SNV |
CRNKL1:NM_001278625:exon2:c.A436G:p.T146A,CRNKL1:NM_016652:exon2:c.A472G:p.T158A |
RS2255255 |
Schizophrenia:Gene expression of
CRNKL1 in CD4+ lymphocytes:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of CRNKL1 in blood:Hypertension (early
onset hypertension):Mitral annular calcium |
|
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 |
25187213 |
2 |
ENTPD6 |
G |
A |
exonic |
nonsynonymous SNV |
ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N |
RS2076559 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene
expression of CT022_HUMAN in blood cells in Celiac
disease:Schizophrenia:Differential exon level expression of ABHD12 [probe
3901876] in brain cortex:Differential exon level expression of ENTPD6 [probe
3880722] in peripheral blood mononuclear cells:Tardive dyskinesia:HOMA-B:Gene
expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in
Cerebellum:LDL cholesterol:Total cholesterol:Gene expression of PYGB in CD4+
lymphocytes:Height:Gene expression of PYGB in blood:Gene expression of [probe
2710615 centered at chr20:25223568] in blood:Gene expression of [probe
7610382 centered at chr20:25229091] in blood:Systolic blood pressure (SBP):Tetrology
of fallot:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
25259006 |
1 |
PYGB |
G |
T |
exonic |
nonsynonymous SNV |
PYGB:NM_002862:exon8:c.G907T:p.A303S |
RS2228976 |
Gene expression of C20orf22 in YRI
lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:College
completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years
of education |
|
20 |
25260931 |
2 |
PYGB |
A |
G |
exonic |
synonymous SNV |
PYGB:NM_002862:exon10:c.A1122G:p.A374A |
RS2227890 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal
cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Temporal cortex:Height:Gene expression of ABHD12 (probeID ILMN_2318685) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
PYGB (probeID ILMN_1778360) in whole blood:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:College completion:Gene expression of ABHD12 in normal prepouch
ileum:Years of education:Gene expression of ABHD12 (probeID ILMN_1745116) in
whole blood:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of PYGB in normal
prepouch ileum:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum
in Alzheimer's disease cases and controls |
|
20 |
25262769 |
1 |
PYGB |
G |
A |
exonic |
nonsynonymous SNV |
PYGB:NM_002862:exon12:c.G1504A:p.D502N |
RS2227891 |
Gene expression of C20orf22 in YRI
lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:Years of
education:Gene expression change of PYGB (ENSG00000100994) in dendritic cells
after treatment with Mycobacterium tuberculosis:Gene expression of ABHD12
(probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex
in Alzheimer's disease cases and controls:College completion:Gene expression
of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in
cerebellum in Alzheimer's disease cases and controls |
|
20 |
25264814 |
2 |
PYGB |
T |
C |
exonic |
synonymous SNV |
PYGB:NM_002862:exon14:c.T1695C:p.D565D |
RS2227892 |
Gene expression of C20orf22 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of PYGB in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal
cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Temporal cortex:LDL cholesterol:Total cholesterol:Height:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases
and controls:College completion:Gene expression of ABHD12 (probeID
ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
25276297 |
2 |
PYGB |
G |
A |
exonic |
synonymous SNV |
PYGB:NM_002862:exon19:c.G2370A:p.Q790Q |
RS1130694 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in
Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22
in Frontal cortex:College completion:Gene expression of ABHD12 (probeID
ILMN_2318685) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID
ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in
Alzheimer's disease cases and controls:Years of education:Gene expression of
ABHD12 in normal prepouch ileum:Gene expression of PYGB in normal prepouch
ileum |
|
20 |
25282944 |
2 |
ABHD12 |
A |
G |
exonic |
synonymous SNV |
ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D |
|
20 |
25456888 |
2 |
NINL |
A |
G |
exonic |
synonymous SNV |
NINL:NM_025176:exon17:c.T3039C:p.S1013S |
RS437635 |
Gene expression of ABHD12 [probe
228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene
expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in
Caudal pons:Gene expression of C20orf22 in Temporal cortex:Gene expression of
C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Body mass index
(BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene
expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685)
in cerebellum in Alzheimer's disease cases and controls:Gene expression of
ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and
controls:College completion:Years of education:Gene expression of ABHD12
(probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and
controls |
|
20 |
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 |
31386347 |
2 |
DNMT3B |
T |
C |
exonic |
synonymous SNV |
DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C,DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C |
RS6058891 |
2 hour glucose:HDL
cholesterol:Height:Infant head circumference |
|
20 |
32379263 |
2 |
ZNF341 |
T |
C |
exonic |
synonymous SNV |
ZNF341:NM_001282935:exon14:c.T2235C:p.A745A,ZNF341:NM_001282933:exon15:c.T2505C:p.A835A,ZNF341:NM_032819:exon15:c.T2484C:p.A828A |
|
20 |
32664926 |
1 |
RALY |
G |
A |
exonic |
nonsynonymous SNV |
RALY:NM_007367:exon7:c.G703A:p.G235S,RALY:NM_016732:exon8:c.G751A:p.G251S |
|
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 |
37377139 |
1 |
ACTR5 |
C |
T |
exonic |
synonymous SNV |
ACTR5:NM_024855:exon1:c.C18T:p.F6F |
|
20 |
37383640 |
1 |
ACTR5 |
T |
C |
exonic |
synonymous SNV |
ACTR5:NM_024855:exon4:c.T816C:p.N272N |
RS2748663 |
Arthritis including
non-Rheumatoid:LDL cholesterol:Schizophrenia:Gene expression of ACTR5 [probe
3884800] in peripheral blood mononuclear cells:Total cholesterol:Asthma:Gene
expression of ACTR5 in blood |
|
20 |
39797465 |
1 |
PLCG1 |
T |
C |
exonic |
nonsynonymous SNV |
PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T |
RS386611104 |
Gene expression of THNSL1 [probe
222931_s_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL
cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL
cholesterol:Body mass index (BMI):Gene expression of [probe 5290575 centered
at chr20:39239179] in blood:Metabolic syndrome domains (Central
obesity):Metabolic syndrome domains (Atherogenic Dyslipidemia -
PC2):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC1):Metabolic
syndrome domains (Vascular Inflammation - PC2):Metabolic syndrome domains
(Elevated plasma glucose):Metabolic syndrome domains (Multivariate
analysis):PROP taste detection threshold:Infant head
circumference:Amyotrophic lateral sclerosis (ALS) age of
onset:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Total cholesterol:Coronary artery disease (CAD):Birth weight:Mitral
annular calcium:Prostate cancer |
|
20 |
42320881 |
1 |
MYBL2 |
C |
T |
exonic |
synonymous SNV |
MYBL2:NM_001278610:exon5:c.C513T:p.D171D,MYBL2:NM_002466:exon6:c.C585T:p.D195D |
|
20 |
42328639 |
1 |
MYBL2 |
T |
C |
exonic |
synonymous SNV |
MYBL2:NM_001278610:exon6:c.T834C:p.P278P,MYBL2:NM_002466:exon7:c.T906C:p.P302P |
RS285162 |
Height:Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP) |
|
20 |
42331457 |
1 |
MYBL2 |
A |
G |
exonic |
nonsynonymous SNV |
MYBL2:NM_001278610:exon7:c.A1207G:p.S403G,MYBL2:NM_002466:exon8:c.A1279G:p.S427G |
RS2070235 |
Lp-PLA2 mass:Birth weight |
|
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 |
44054349 |
2 |
PIGT |
T |
C |
exonic |
synonymous SNV |
PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y |
RS707577 |
Schizophrenia:Recurrent early
onset major depressive disorder (males):Recurrent early onset major
depressive disorder (females):Recurrent early onset major depressive
disorder:LDL cholesterol:Total cholesterol:Gene expression of C20orf35 [probe
ILMN_16777] in osteoblasts treated with dexamethasone:Gene expression of
C20orf169 in blood:Systolic blood pressure (SBP):Gene expression of WFDC2
(probeID ILMN_1706612) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of SYS1 (probeID ILMN_1756590) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID
ILMN_1706612) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SYS1 in normal prepouch ileum:Allele-specific
Expression Patterns in human glioblastoma cell line U87MG:Gene expression of
WFDC2 (probeID ILMN_1799120) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of WFDC2 (probeID ILMN_1799120) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID
ILMN_1756590) in cerebellum in Alzheimer's disease cases and controls |
|
20 |
44441403 |
1 |
UBE2C |
C |
G |
exonic |
nonsynonymous SNV |
UBE2C:NM_001281741:exon1:c.C69G:p.S23R,UBE2C:NM_001281742:exon1:c.C69G:p.S23R,UBE2C:NM_007019:exon1:c.C69G:p.S23R,UBE2C:NM_181799:exon1:c.C69G:p.S23R,UBE2C:NM_181800:exon1:c.C69G:p.S23R |
|
20 |
44470676 |
2 |
SNX21 |
T |
C |
exonic |
synonymous SNV |
SNX21:NM_152897:exon5:c.T594C:p.S198S |
RS3848713 |
Triglycerides:2 hour
glucose:Methylation levels at chr20:43889508-43889558 [hg18 coord, probe
cg08201421] in Cerebellum:HDL cholesterol:Triglycerides:Infant head
circumference:Gene expression of DNTTIP1 in normal prepouch ileum:Gene
expression of WFDC3 (probeID ILMN_2308903) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of WFDC3 (probeID ILMN_2308903) in
temporal cortex in Alzheimer's disease cases and controls |
|
20 |
44506661 |
1 |
ZSWIM3 |
G |
A |
exonic |
synonymous SNV |
ZSWIM3:NM_080752:exon2:c.G1464A:p.P488P |
RS17446462 |
2 hour glucose:LDL
cholesterol:Diastolic blood pressure (DBP):Glaucoma (primary open-angle
glaucoma):Parkinson's disease |
|
20 |
44520579 |
1 |
CTSA |
C |
G |
exonic |
synonymous SNV |
CTSA:NM_000308:exon3:c.C273G:p.P91P,CTSA:NM_001127695:exon3:c.C219G:p.P73P,CTSA:NM_001167594:exon3:c.C273G:p.P91P |
RS742035 |
2 hour glucose:LDL
cholesterol:Diastolic blood pressure (DBP):Parkinson's disease |
|
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 |
46268493 |
1 |
NCOA3 |
A |
G |
exonic |
synonymous SNV |
NCOA3:NM_001174087:exon15:c.A2880G:p.T960T,NCOA3:NM_001174088:exon15:c.A2865G:p.T955T,NCOA3:NM_006534:exon15:c.A2880G:p.T960T,NCOA3:NM_181659:exon15:c.A2880G:p.T960T |
RS2076546 |
Total cholesterol:HDL
cholesterol:Comorbid depressive syndrome and alcohol dependence |
|
20 |
46279827 |
1 |
NCOA3 |
G |
A |
exonic |
synonymous SNV |
NCOA3:NM_001174087:exon20:c.G3750A:p.Q1250Q,NCOA3:NM_001174088:exon20:c.G3726A:p.Q1242Q,NCOA3:NM_006534:exon20:c.G3741A:p.Q1247Q,NCOA3:NM_181659:exon20:c.G3753A:p.Q1251Q |
|
20 |
46279866 |
1 |
NCOA3 |
A |
G |
exonic |
synonymous SNV |
NCOA3:NM_001174087:exon20:c.A3789G:p.Q1263Q,NCOA3:NM_001174088:exon20:c.A3765G:p.Q1255Q,NCOA3:NM_006534:exon20:c.A3780G:p.Q1260Q,NCOA3:NM_181659:exon20:c.A3792G:p.Q1264Q |
|
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 |
48257149 |
2 |
B4GALT5 |
C |
T |
exonic |
synonymous SNV |
B4GALT5:NM_004776:exon6:c.G660A:p.E220E |
RS421801 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Gene expression of B4GALT5 in
peripheral blood monocytes:Asthma:Gene expression of B4GALT5 [probeset
221484_at] in sputum:PROP taste detection threshold:Obesity with early age of
onset (age >2) |
|
20 |
48259034 |
1 |
B4GALT5 |
A |
G |
exonic |
synonymous SNV |
B4GALT5:NM_004776:exon5:c.T577C:p.L193L |
RS2235855 |
HOMA-B:Total cholesterol:PROP taste
detection threshold |
|
20 |
48746189 |
1 |
TMEM189;TMEM189-UBE2V1 |
C |
T |
exonic |
synonymous SNV |
TMEM189:NM_001162505:exon4:c.G363A:p.P121P,TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P |
RS6122878 |
Gene expression of TMEM189 in
peripheral blood monocytes |
|
20 |
48770159 |
2 |
TMEM189;TMEM189-UBE2V1 |
T |
C |
exonic |
nonsynonymous SNV |
TMEM189:NM_001162505:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D |
|
20 |
48808011 |
1 |
CEBPB |
C |
T |
exonic |
synonymous SNV |
CEBPB:NM_001285878:exon1:c.C372T:p.A124A,CEBPB:NM_005194:exon1:c.C441T:p.A147A |
|
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 |
54961541 |
1 |
AURKA |
A |
T |
exonic |
nonsynonymous SNV |
AURKA:NM_003600:exon3:c.T91A:p.F31I,AURKA:NM_198435:exon3:c.T91A:p.F31I,AURKA:NM_198437:exon3:c.T91A:p.F31I,AURKA:NM_001323303:exon4:c.T91A:p.F31I,AURKA:NM_001323304:exon4:c.T91A:p.F31I,AURKA:NM_198434:exon4:c.T91A:p.F31I,AURKA:NM_198436:exon4:c.T91A:p.F31I,AURKA:NM_001323305:exon5:c.T91A:p.F31I,AURKA:NM_198433:exon5:c.T91A:p.F31I |
RS2273535 |
Simpson-Angus Scale:Serum
creatinine:Advanced age-related macular degeneration (geographic
atrophy):Parkinson's disease |
|
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 |
57572675 |
2 |
CTSZ |
A |
G |
exonic |
synonymous SNV |
CTSZ:NM_001336:exon4:c.T621C:p.Y207Y |
|
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 |
60907446 |
2 |
LAMA5 |
T |
C |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon28:c.A3534G:p.E1178E |
|
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 |
60927412 |
2 |
LAMA5 |
G |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon4:c.C573T:p.S191S |
RS624313 |
Cystatin C in serum:Serum
creatinine:Adiponectin levels |
|
20 |
60937597 |
2 |
LAMA5 |
A |
G |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon2:c.T309C:p.C103C |
RS477859 |
Serum creatinine:Gene expression of
OSBPL2 in peripheral blood monocytes:Gene expression of CABLES2 in peripheral
blood monocytes |
|
20 |
61443687 |
1 |
OGFR |
G |
A |
exonic |
synonymous SNV |
OGFR:NM_007346:exon7:c.G720A:p.T240T |
|
20 |
61444939 |
1 |
OGFR |
G |
C |
exonic |
nonsynonymous SNV |
OGFR:NM_007346:exon7:c.G1972C:p.G658R |
|
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 |
61588159 |
2 |
SLC17A9 |
A |
G |
exonic |
synonymous SNV |
SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T |
RS2245341 |
2 hour glucose:LDL cholesterol |
|
20 |
61594679 |
2 |
SLC17A9 |
A |
G |
exonic |
nonsynonymous SNV |
SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S |
|
20 |
62194030 |
1 |
HELZ2 |
G |
C |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.C4438G:p.Q1480E,HELZ2:NM_001037335:exon9:c.C6145G:p.Q2049E |
RS3810483 |
Triglycerides |
|
20 |
62194103 |
1 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon3:c.T4365C:p.P1455P,HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P |
|
20 |
62195087 |
1 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon3:c.T3381C:p.S1127S,HELZ2:NM_001037335:exon9:c.T5088C:p.S1696S |
RS310630 |
LDL cholesterol |
|
20 |
62196253 |
1 |
HELZ2 |
C |
A |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.G2215T:p.V739L,HELZ2:NM_001037335:exon9:c.G3922T:p.V1308L |
RS310631 |
LDL cholesterol:Gene expression of
RP4-583P15.5///SLC2A4RG in blood |
|
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 |
62328453 |
1 |
TNFRSF6B |
T |
C |
exonic |
synonymous SNV |
TNFRSF6B:NM_003823:exon1:c.T333C:p.R111R |
|
20 |
62331989 |
1 |
ARFRP1 |
T |
G |
exonic |
synonymous SNV |
ARFRP1:NM_001267546:exon6:c.A342C:p.R114R,ARFRP1:NM_001134758:exon7:c.A483C:p.R161R,ARFRP1:NM_001267547:exon7:c.A483C:p.R161R,ARFRP1:NM_001267548:exon7:c.A483C:p.R161R,ARFRP1:NM_001267549:exon7:c.A483C:p.R161R,ARFRP1:NM_003224:exon7:c.A483C:p.R161R |
|
20 |
62340115 |
2 |
ZGPAT |
C |
G |
exonic |
nonsynonymous SNV |
ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R |
RS1291212 |
Serum creatinine:Systolic blood
pressure (SBP):Diastolic blood pressure (DBP) |
|
20 |
62372813 |
2 |
SLC2A4RG |
G |
A |
exonic |
synonymous SNV |
SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P |
RS2427536 |
Schizophrenia:Serum creatinine:HDL
cholesterol:Gene expression of EEF1A2 [probe ILMN_2929] in osteoblasts with
treatment interaction:Gene expression of ZGPAT///RP4-583P15.5 in blood:Gene
expression of RP4-583P15.5///SLC2A4RG in blood |
|
20 |
62373707 |
1 |
SLC2A4RG |
G |
T |
exonic |
nonsynonymous SNV |
SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D |
RS8957 |
LDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression change of LIME1 (ENSG00000203896) in dendritic cells after
treatment with Mycobacterium tuberculosis:Gene expression change of ZGPAT
(ENSG00000197114) in dendritic cells after treatment with Mycobacterium
tuberculosis:Gene expression of SLC2A4RG (ENSG00000125520) in dendritic cells |
|
21 |
10910347 |
2 |
TPTE |
A |
G |
exonic |
nonsynonymous SNV |
TPTE:NM_001290224:exon17:c.T995C:p.L332P,TPTE:NM_199260:exon20:c.T1295C:p.L432P,TPTE:NM_199259:exon21:c.T1355C:p.L452P,TPTE:NM_199261:exon22:c.T1409C:p.L470P |
|
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 |
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 |
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 |
33719695 |
2 |
URB1 |
C |
T |
exonic |
synonymous SNV |
URB1:NM_014825:exon22:c.G3438A:p.K1146K |
|
21 |
33755763 |
2 |
URB1 |
G |
A |
exonic |
synonymous SNV |
URB1:NM_014825:exon4:c.C535T:p.L179L |
RS2833795 |
Rheumatoid
arthritis:Triglycerides:Hemoglobin (Hb):Total cholesterol:LDL
cholesterol:Triglycerides |
|
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 |
34787312 |
2 |
IFNGR2 |
A |
G |
exonic |
nonsynonymous SNV |
IFNGR2:NM_005534:exon2:c.A191G:p.Q64R,IFNGR2:NM_001329128:exon3:c.A248G:p.Q83R |
RS9808753 |
Barnes Akathisia Rating Scale:LDL
cholesterol:Rheumatoid arthritis:Neuroblastoma (brain cancer):Gene expression
of IFNAR1 in blood:Gene expression of IFNGR2 in blood:Gene expression of
IL10RB in blood:Gene expression of [probe 4480647 centered at chr21:33733423]
in blood:Coronary artery calcification (CAC) |
|
21 |
34897113 |
2 |
GART |
C |
T |
exonic |
nonsynonymous SNV |
GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I |
RS8788 |
Years of education:College
completion:Birth weight |
|
21 |
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 |
34926260 |
2 |
SON |
C |
T |
exonic |
nonsynonymous SNV |
SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C |
RS13047599 |
HDL cholesterol:Serum
creatinine:Gene expression of TMEM50B in blood:Years of education:Birth
weight:College completion |
|
21 |
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 |
37692589 |
2 |
MORC3 |
A |
T |
exonic |
synonymous SNV |
MORC3:NM_015358:exon1:c.A27T:p.I9I |
|
21 |
38444863 |
2 |
PIGP |
C |
T |
exonic |
nonsynonymous SNV |
PIGP:NM_153681:exon1:c.G25A:p.A9T |
|
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 |
43162150 |
2 |
RIPK4 |
G |
A |
exonic |
synonymous SNV |
RIPK4:NM_020639:exon8:c.C1203T:p.G401G |
RS3746894 |
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 |
43221826 |
2 |
PRDM15 |
T |
C |
exonic |
synonymous SNV |
PRDM15:NM_001040424:exon24:c.A3111G:p.L1037L,PRDM15:NM_001282934:exon25:c.A3171G:p.L1057L,PRDM15:NM_022115:exon31:c.A4098G:p.L1366L |
RS2236696 |
HOMA-B |
|
21 |
43327856 |
2 |
C2CD2 |
A |
G |
exonic |
synonymous SNV |
C2CD2:NM_199050:exon8:c.T591C:p.F197F,C2CD2:NM_015500:exon9:c.T1056C:p.F352F |
RS3746906 |
Total cholesterol:Cystatin C in
serum |
|
21 |
44837551 |
2 |
LOC102724428;SIK1 |
G |
A |
exonic |
synonymous SNV |
LOC102724428:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P |
|
21 |
44837555 |
2 |
LOC102724428;SIK1 |
G |
A |
exonic |
nonsynonymous SNV |
LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V |
RS430554 |
Total cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Adiponectin levels |
|
21 |
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 |
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 |
47777063 |
2 |
PCNT |
G |
A |
exonic |
nonsynonymous SNV |
PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E |
|
21 |
47783796 |
2 |
PCNT |
T |
C |
exonic |
synonymous SNV |
PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A |
|
21 |
47786817 |
2 |
PCNT |
C |
G |
exonic |
synonymous SNV |
PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L |
RS2839228 |
Gene expression of C21orf57 [probe
227421_at] in lymphoblastoid cell lines:Chronic kidney disease:HDL
cholesterol:LDL cholesterol:Gene expression of C21orf57 (probeID
ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease
cases and controls |
|
21 |
47787002 |
2 |
PCNT |
T |
C |
exonic |
nonsynonymous SNV |
PCNT:NM_001315529:exon15:c.T2759C:p.V920A,PCNT:NM_006031:exon15:c.T3113C:p.V1038A |
RS6518289 |
Gene expression of C21orf57 [probe
227421_at] in lymphoblastoid cell lines:Chronic kidney disease: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_2411127) in temporal cortex in Alzheimer's disease
cases and controls:Docetaxel response in lymphoblastoid cell lines:Gene
expression of C21orf57 (probeID ILMN_1656297) in temporal cortex in
Alzheimer's disease cases and controls |
|
22 |
17630486 |
2 |
HDHD5 |
C |
A |
exonic |
synonymous SNV |
HDHD5:NM_017829:exon2:c.G186T:p.G62G,HDHD5:NM_033070:exon2:c.G276T:p.G92G |
RS1034859 |
Hip bone mineral density
(BMD):Irritible bowel syndrome:Differential exon level expression of CECR5
[probe 3951757] in brain cortex:Serum creatinine:Gene expression of CECR5 in
peripheral blood monocytes:Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration:Birth weight:Tetrology of fallot:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
18901004 |
2 |
PRODH |
C |
T |
exonic |
nonsynonymous SNV |
PRODH:NM_001195226:exon13:c.G1238A:p.R413Q,PRODH:NM_016335:exon14:c.G1562A:p.R521Q |
RS450046 |
Celiac disease:Triglycerides:LDL
cholesterol:Differential exon level expression of PRODH [probe 3952364] in
brain cortex:HOMA-B:Triglycerides change with statins:Body mass index
(BMI):Endometriosis |
|
22 |
19184095 |
1 |
CLTCL1 |
T |
C |
exonic |
nonsynonymous SNV |
CLTCL1:NM_001835:exon25:c.A3946G:p.M1316V,CLTCL1:NM_007098:exon25:c.A3946G:p.M1316V |
RS1061325 |
Rheumatoid arthritis:LDL
cholesterol:Gene expression of CLTCL1 in blood:Gene expression of SLC25A1 in
blood:Sporadic Creutzfeldt-Jakob disease:Serum Cit:Years of education |
|
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 |
19789541 |
2 |
GNB1L |
A |
C |
exonic |
nonsynonymous SNV |
GNB1L:NM_053004:exon7:c.T715G:p.W239G |
|
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 |
23523630 |
1 |
BCR |
C |
A |
exonic |
synonymous SNV |
BCR:NM_004327:exon1:c.C483A:p.I161I,BCR:NM_021574:exon1:c.C483A:p.I161I |
|
22 |
24035970 |
2 |
RGL4 |
C |
T |
exonic |
nonsynonymous SNV |
RGL4:NM_001329424:exon4:c.C721T:p.H241Y,RGL4:NM_153615:exon4:c.C721T:p.H241Y |
RS2070446 |
Stabilized warfarin dose:Cystatin C
in serum:Microalbuminuria:Maternal transmission distortion:Transmission
distortion |
|
22 |
24086107 |
1 |
ZNF70 |
A |
G |
exonic |
synonymous SNV |
ZNF70:NM_021916:exon2:c.T1221C:p.I407I |
RS5759985 |
LDL cholesterol change with
statins:Total cholesterol |
|
22 |
24087319 |
1 |
ZNF70 |
A |
C |
exonic |
synonymous SNV |
ZNF70:NM_021916:exon2:c.T9G:p.V3V |
RS2070451 |
Alzheimer's disease:LDL cholesterol
change with statins:Gene expression of RGL4 in blood:Transmission
distortion:Hypertension (early onset hypertension):Maternal transmission
distortion |
|
22 |
24108412 |
2 |
CHCHD10 |
G |
A |
exonic |
synonymous SNV |
CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y |
RS9153 |
Gene expression of VPREB3 (probeID
ILMN_1700147) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of VPREB3 (probeID ILMN_1700147) in cerebellum in
Alzheimer's disease cases and controls |
|
22 |
24459438 |
2 |
CABIN1 |
T |
C |
exonic |
synonymous SNV |
CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C |
RS762273 |
Obesity with early age of onset (age
>2):Amyotrophic lateral sclerosis (ALS) |
|
22 |
24717518 |
1 |
SPECC1L |
G |
A |
exonic |
synonymous SNV |
SPECC1L:NM_001145468:exon4:c.G570A:p.T190T,SPECC1L:NM_001254732:exon4:c.G570A:p.T190T,SPECC1L:NM_015330:exon5:c.G570A:p.T190T |
RS3747113 |
Irritible bowel syndrome:Rheumatoid
arthritis:PROP taste detection threshold:Aortic valve calcium |
|
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 |
24964128 |
1 |
SNRPD3 |
T |
C |
exonic |
synonymous SNV |
SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A |
|
22 |
25577688 |
2 |
KIAA1671 |
G |
A |
exonic |
synonymous SNV |
KIAA1671:NM_001145206:exon8:c.G5097A:p.E1699E |
RS763279 |
Alzheimer's
disease:Salmonella-induced pyroptosis:Acute lung injury following major
trauma:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
22 |
25577733 |
2 |
KIAA1671 |
T |
C |
exonic |
synonymous SNV |
KIAA1671:NM_001145206:exon8:c.T5142C:p.P1714P |
|
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 |
29279991 |
2 |
ZNRF3 |
C |
T |
exonic |
synonymous SNV |
ZNRF3:NM_001206998:exon1:c.C237T:p.T79T |
|
22 |
29727866 |
2 |
AP1B1 |
C |
T |
exonic |
synonymous SNV |
AP1B1:NM_001166019:exon17:c.G2268A:p.A756A,AP1B1:NM_145730:exon17:c.G2328A:p.A776A,AP1B1:NM_001127:exon18:c.G2349A:p.A783A |
RS174765 |
Gene expression change of EWSR1
(ENSG00000182944) in dendritic cells after treatment with Mycobacterium
tuberculosis |
|
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 |
29755888 |
2 |
AP1B1 |
T |
C |
exonic |
synonymous SNV |
AP1B1:NM_001127:exon4:c.A204G:p.L68L,AP1B1:NM_001166019:exon4:c.A204G:p.L68L,AP1B1:NM_145730:exon4:c.A204G:p.L68L |
RS2072051 |
LDL cholesterol:Cystatin C in
serum:Birth weight |
|
22 |
29908072 |
1 |
THOC5 |
C |
T |
exonic |
nonsynonymous SNV |
THOC5:NM_001002879:exon18:c.G1735A:p.V579I,THOC5:NM_003678:exon18:c.G1735A:p.V579I,THOC5:NM_001002877:exon19:c.G1735A:p.V579I,THOC5:NM_001002878:exon19:c.G1735A:p.V579I |
RS1049534 |
Fasting insulin:HOMA-IR:HOMA-B:Gene
expression of THOC5 (ENSG00000100296) in dendritic cells treated with
Mycobacterium tuberculosis |
|
22 |
29913272 |
1 |
THOC5 |
C |
T |
exonic |
nonsynonymous SNV |
THOC5:NM_001002879:exon16:c.G1573A:p.V525I,THOC5:NM_003678:exon16:c.G1573A:p.V525I,THOC5:NM_001002877:exon17:c.G1573A:p.V525I,THOC5:NM_001002878:exon17:c.G1573A:p.V525I |
RS737976 |
Hip bone mineral density
(BMD):Simpson-Angus Scale:Triglycerides change with statins:Body mass index
(BMI):Gene expression of NIPSNAP1 in blood:Gene expression of THOC5 in
blood:Gene expression of NIPSNAP1 (ENSG00000184117) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of THOC5 in normal
prepouch ileum:Years of education:Endometriosis |
|
22 |
30221201 |
1 |
ASCC2 |
G |
A |
exonic |
nonsynonymous SNV |
ASCC2:NM_001242906:exon3:c.C127T:p.R43C,ASCC2:NM_032204:exon4:c.C286T:p.R96C |
RS1894473 |
Triglycerides |
|
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 |
31673111 |
1 |
LIMK2 |
A |
G |
exonic |
synonymous SNV |
LIMK2:NM_001031801:exon15:c.A2046G:p.T682T |
|
22 |
31673116 |
1 |
LIMK2 |
A |
G |
exonic |
nonsynonymous SNV |
LIMK2:NM_001031801:exon15:c.A2051G:p.Q684R |
|
22 |
31722886 |
1 |
PATZ1 |
T |
G |
exonic |
nonsynonymous SNV |
PATZ1:NM_032050:exon4:c.A1917C:p.E639D,PATZ1:NM_014323:exon5:c.A2055C:p.E685D |
|
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 |
32784051 |
2 |
RTCB |
T |
C |
exonic |
synonymous SNV |
RTCB:NM_014306:exon12:c.A1446G:p.V482V |
RS11635 |
Gene expression of RFPL3S (probeID
ILMN_2401263) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RFPL3S (probeID ILMN_2401263) in cerebellum in
Alzheimer's disease cases and controls |
|
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 |
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 |
36684354 |
2 |
MYH9 |
T |
C |
exonic |
nonsynonymous SNV |
MYH9:NM_002473:exon34:c.A4876G:p.I1626V |
RS2269529 |
Triglycerides:Alzheimer's
disease:Fasting blood glucose:Focal segmental glomerulosclerosis:Height:Gene
expression of MYH9 in blood:Paternal transmission distortion |
|
22 |
36684358 |
2 |
MYH9 |
C |
A |
exonic |
synonymous SNV |
MYH9:NM_002473:exon34:c.G4872T:p.A1624A |
RS2269530 |
Triglycerides:Height:College
completion:Years of education |
|
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 |
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 |
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 |
43435812 |
2 |
TTLL1 |
C |
T |
exonic |
synonymous SNV |
TTLL1:NM_012263:exon11:c.G1242A:p.S414S |
|
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 |
44368204 |
2 |
SAMM50 |
A |
G |
exonic |
synonymous SNV |
SAMM50:NM_015380:exon5:c.A411G:p.G137G |
RS3177036 |
Stabilized warfarin dose:HDL
cholesterol:Differential exon level expression of SAMM50 [probe 3948009] in
peripheral blood mononuclear cells:Neuroblastoma (brain cancer) |
|
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 |
44395451 |
2 |
PARVB |
T |
C |
exonic |
nonsynonymous SNV |
PARVB:NM_001003828:exon2:c.T109C:p.W37R |
RS1007863 |
HDL cholesterol:HDL
cholesterol:Fatty liver:College completion |
|
22 |
44489868 |
2 |
PARVB |
T |
C |
exonic |
nonsynonymous SNV |
PARVB:NM_001243385:exon2:c.T62C:p.V21A,PARVB:NM_001243386:exon2:c.T17C:p.V6A,PARVB:NM_013327:exon2:c.T173C:p.V58A,PARVB:NM_001003828:exon3:c.T272C:p.V91A |
RS1983609 |
Autism:Maternal transmission
distortion:Transmission distortion |
|
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 |
46929692 |
2 |
CELSR1 |
A |
G |
exonic |
nonsynonymous SNV |
CELSR1:NM_014246:exon1:c.T3376C:p.C1126R |
RS4823561 |
HDL cholesterol:LDL
cholesterol:Infant head circumference |
|
22 |
46931077 |
2 |
CELSR1 |
G |
C |
exonic |
nonsynonymous SNV |
CELSR1:NM_014246:exon1:c.C1991G:p.S664W |
|
22 |
46931793 |
2 |
CELSR1 |
G |
C |
exonic |
synonymous SNV |
CELSR1:NM_014246:exon1:c.C1275G:p.L425L |
|
22 |
46931838 |
2 |
CELSR1 |
G |
A |
exonic |
synonymous SNV |
CELSR1:NM_014246:exon1:c.C1230T:p.S410S |
RS1009155 |
LDL
cholesterol:Microalbuminuria:Diastolic blood pressure (DBP) |
|
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 |
50719251 |
2 |
PLXNB2 |
A |
G |
exonic |
synonymous SNV |
PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P |
|
22 |
50720622 |
2 |
PLXNB2 |
C |
T |
exonic |
synonymous SNV |
PLXNB2:NM_012401:exon19:c.G3108A:p.Q1036Q |
|
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 |
50941985 |
2 |
LMF2 |
T |
C |
exonic |
synonymous SNV |
LMF2:NM_033200:exon14:c.A1959G:p.Q653Q |
|
22 |
50944163 |
2 |
LMF2 |
G |
A |
exonic |
synonymous SNV |
LMF2:NM_033200:exon6:c.C856T:p.L286L |
RS128941 |
Parkinson's disease (PD):Stabilized
warfarin dose:Chronic kidney disease:Gene expression of NCAPH2///SCO2 in
blood:Gene expression of TYMP in blood:Gene expression of TMEM112B in
blood:Gene expression of SCO2///TYMP in blood:Gene expression of KREMEN2 in
blood:Mean corpuscular volume (MCV) |
|
22 |
50962208 |
2 |
SCO2 |
T |
G |
exonic |
synonymous SNV |
SCO2:NM_001169109:exon2:c.A633C:p.A211A,SCO2:NM_001169110:exon2:c.A633C:p.A211A,SCO2:NM_001169111:exon2:c.A633C:p.A211A,SCO2:NM_005138:exon2:c.A633C:p.A211A |
RS12148 |
Triglycerides:Mean corpuscular
volume (MCV):Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene
expression change of TYMP (ENSG00000025708) in dendritic cells after
treatment with Mycobacterium tuberculosis:Gene expression of SCO2 in normal
prepouch ileum:Gene expression of TYMP (ENSG00000025708) in dendritic
cells:Salmonella-induced pyroptosis:Mean corpuscular hemoglobin concentration
(MCHC):Mean corpuscular volume (MCV):Red blood cell count (RBC) |
|
22 |
50962782 |
2 |
SCO2 |
C |
G |
exonic |
nonsynonymous SNV |
SCO2:NM_001169109:exon2:c.G59C:p.R20P,SCO2:NM_001169110:exon2:c.G59C:p.R20P,SCO2:NM_001169111:exon2:c.G59C:p.R20P,SCO2:NM_005138:exon2:c.G59C:p.R20P |
RS140523 |
Triglycerides:Mean corpuscular
volume (MCV):Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene
expression of SCO2 in normal prepouch ileum:Mean corpuscular volume
(MCV):Mean corpuscular hemoglobin concentration (MCHC) |
|
22 |
50964862 |
2 |
TYMP |
G |
A |
exonic |
synonymous SNV |
TYMP:NM_001113756:exon7:c.C972T:p.A324A,TYMP:NM_001113755:exon8:c.C972T:p.A324A,TYMP:NM_001257988:exon8:c.C972T:p.A324A,TYMP:NM_001257989:exon8:c.C972T:p.A324A,TYMP:NM_001953:exon8:c.C972T:p.A324A |
|
22 |
51064039 |
2 |
ARSA |
G |
C |
exonic |
nonsynonymous SNV |
ARSA:NM_000487:exon7:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S |
RS743616 |
LDL cholesterol:Systolic blood
pressure (SBP) |
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