Chr |
Loc |
Genotype |
Gene |
Ref |
Alt |
Type |
Class |
Protein |
RS |
Phenotype |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
1 |
877831 |
2 |
SAMD11 |
T |
C |
exonic |
nonsynonymous SNV |
SAMD11:NM_152486:exon10:c.T1027C:p.W343R |
|
1 |
887801 |
2 |
NOC2L |
A |
G |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon10:c.T1182C:p.T394T |
|
1 |
888639 |
2 |
NOC2L |
T |
C |
exonic |
synonymous SNV |
NOC2L:NM_015658:exon9:c.A918G:p.E306E |
|
1 |
897325 |
2 |
KLHL17 |
G |
C |
exonic |
synonymous SNV |
KLHL17:NM_198317:exon4:c.G609C:p.A203A |
|
1 |
982994 |
2 |
AGRN |
T |
C |
exonic |
synonymous SNV |
AGRN:NM_198576:exon21:c.T3558C:p.F1186F |
|
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 |
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 |
1452592 |
1 |
ATAD3A |
T |
C |
exonic |
nonsynonymous SNV |
ATAD3A:NM_018188:exon3:c.T328C:p.W110R |
|
1 |
1479333 |
2 |
SSU72 |
A |
G |
exonic |
synonymous SNV |
SSU72:NM_014188:exon4:c.T399C:p.P133P |
RS7533 |
Differential splicing of SSU72
[probeset 2391652] in lymphoblastoid cell lines:Years of
education:Adiponectin levels |
|
1 |
1558792 |
2 |
MIB2 |
T |
C |
exonic |
nonsynonymous SNV |
MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T |
|
1 |
1647814 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11A:NM_001313896:exon5:c.A429G:p.E143E,CDK11A:NM_001313982:exon5:c.A429G:p.E143E,CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_001291345:exon6:c.A429G:p.E143E,CDK11B:NM_001787:exon6:c.A459G:p.E153E,CDK11B:NM_033486:exon6:c.A459G:p.E153E,CDK11B:NM_033489:exon7:c.A357G:p.E119E |
RS72901775 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1647871 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11A:NM_001313896:exon5:c.A372G:p.R124R,CDK11A:NM_001313982:exon5:c.A372G:p.R124R,CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_001291345:exon6:c.A372G:p.R124R,CDK11B:NM_001787:exon6:c.A402G:p.R134R,CDK11B:NM_033486:exon6:c.A402G:p.R134R,CDK11B:NM_033489:exon7:c.A300G:p.R100R |
RS72909014 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650807 |
1 |
CDK11A;CDK11B |
T |
C |
exonic |
synonymous SNV |
CDK11B:NM_001291345:exon4:c.A315G:p.R105R,CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R |
RS1137005 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650832 |
1 |
CDK11A;CDK11B |
A |
G |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon4:c.T290C:p.V97A,CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A |
RS72909030 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
1650845 |
1 |
CDK11A;CDK11B |
G |
A |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon4:c.C277T:p.R93W,CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11B:NM_001787:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033489:exon5:c.C175T:p.R59W |
RS1059831 |
Gene expression of MIB2 [transcript
NM_080875, probe A_24_P259328] in liver |
|
1 |
1653046 |
1 |
CDK11A;CDK11B |
T |
A |
exonic |
synonymous SNV |
CDK11B:NM_001291345:exon3:c.A216T:p.S72S,CDK11A:NM_001313896:exon3:c.A216T:p.S72S,CDK11A:NM_001313982:exon3:c.A216T:p.S72S,CDK11B:NM_001787:exon3:c.A216T:p.S72S,CDK11A:NM_024011:exon3:c.A216T:p.S72S,CDK11B:NM_033486:exon3:c.A216T:p.S72S,CDK11A:NM_033529:exon3:c.A216T:p.S72S,CDK11B:NM_033489:exon4:c.A114T:p.S38S |
|
1 |
1653093 |
1 |
CDK11A;CDK11B |
A |
G |
exonic |
nonsynonymous SNV |
CDK11B:NM_001291345:exon3:c.T169C:p.C57R,CDK11A:NM_001313896:exon3:c.T169C:p.C57R,CDK11A:NM_001313982:exon3:c.T169C:p.C57R,CDK11B:NM_001787:exon3:c.T169C:p.C57R,CDK11A:NM_024011:exon3:c.T169C:p.C57R,CDK11B:NM_033486:exon3:c.T169C:p.C57R,CDK11A:NM_033529:exon3:c.T169C:p.C57R,CDK11B:NM_033489:exon4:c.T67C:p.C23R |
|
1 |
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 |
2856155 |
2 |
|
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 |
6614391 |
2 |
NOL9 |
A |
C |
exonic |
nonsynonymous SNV |
NOL9:NM_024654:exon1:c.T172G:p.S58A |
|
1 |
6614415 |
2 |
NOL9 |
A |
G |
exonic |
nonsynonymous SNV |
NOL9:NM_024654:exon1:c.T148C:p.W50R |
|
1 |
6704635 |
2 |
DNAJC11 |
A |
G |
exonic |
synonymous SNV |
DNAJC11:NM_018198:exon10:c.T1080C:p.G360G |
RS200458 |
Triglycerides:Cystatin C in
serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar
disorder:Hypertension (early onset hypertension):Adiponectin levels |
|
1 |
7887248 |
2 |
PER3 |
G |
A |
exonic |
synonymous SNV |
PER3:NM_001289861:exon18:c.G2259A:p.P753P,PER3:NM_001289862:exon18:c.G2259A:p.P753P,PER3:NM_001289863:exon18:c.G2238A:p.P746P,PER3:NM_001289864:exon18:c.G1302A:p.P434P,PER3:NM_016831:exon18:c.G2235A:p.P745P |
|
1 |
10511589 |
2 |
CENPS-CORT;CORT |
T |
C |
exonic |
synonymous SNV |
CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S |
RS666103 |
2 hour glucose:Urinary
albumin-to-creatinine ratio:Birth weight |
|
1 |
11119899 |
2 |
SRM |
T |
C |
exonic |
synonymous SNV |
SRM:NM_003132:exon1:c.A102G:p.S34S |
|
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 |
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 |
12009956 |
2 |
PLOD1 |
G |
A |
exonic |
nonsynonymous SNV |
PLOD1:NM_000302:exon3:c.G295A:p.A99T,PLOD1:NM_001316320:exon4:c.G436A:p.A146T |
RS7551175 |
LDL cholesterol:Rheumatoid arthritis |
|
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 |
16101479 |
1 |
FBLIM1 |
C |
A |
exonic |
synonymous SNV |
FBLIM1:NM_001024215:exon6:c.C1078A:p.R360R |
|
1 |
16101508 |
1 |
FBLIM1 |
T |
C |
exonic |
synonymous SNV |
FBLIM1:NM_001024215:exon6:c.T1107C:p.D369D |
|
1 |
16890484 |
1 |
NBPF1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16890606 |
1 |
NBPF1 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
16902823 |
1 |
NBPF1 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
16907328 |
1 |
NBPF1 |
G |
T |
exonic |
unknown |
UNKNOWN |
|
1 |
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 |
2 |
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 |
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 |
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 |
19950062 |
2 |
MINOS1 |
T |
C |
exonic |
synonymous SNV |
MINOS1:NM_001204082:exon2:c.T159C:p.H53H,MINOS1:NM_001032363:exon3:c.T207C:p.H69H,MINOS1:NM_001204083:exon3:c.T207C:p.H69H |
|
1 |
21050958 |
2 |
SH2D5 |
C |
T |
exonic |
synonymous SNV |
SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q |
RS592060 |
Total cholesterol change with
statins:Methylation levels at chr1:20916568-20916618 [hg18 coord, probe
cg15613048] in Temporal cortex:Methylation levels at chr1:20916568-20916618
[hg18 coord, probe cg15613048] in Caudal pons:Methylation levels at chr1:20916568-20916618
[hg18 coord, probe cg15613048] in Frontal cortex:Mitral annular
calcium:Advanced age-related macular degeneration:Gene expression of KIF17
(ENSG00000117245) in dendritic cells |
|
1 |
21167404 |
2 |
EIF4G3 |
A |
G |
exonic |
synonymous SNV |
EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L |
RS7553394 |
PROP taste detection threshold |
|
1 |
21809750 |
2 |
NBPF3 |
T |
C |
exonic |
synonymous SNV |
NBPF3:NM_001256417:exon14:c.T1563C:p.Y521Y,NBPF3:NM_001256416:exon15:c.T1737C:p.Y579Y,NBPF3:NM_032264:exon15:c.T1773C:p.Y591Y,NBPF3:NM_001330381:exon19:c.T1605C:p.Y535Y |
|
1 |
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 |
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 |
24706269 |
2 |
STPG1 |
A |
G |
exonic |
synonymous SNV |
STPG1:NM_178122:exon4:c.T195C:p.N65N,STPG1:NM_001199012:exon5:c.T336C:p.N112N,STPG1:NM_001199013:exon5:c.T336C:p.N112N,STPG1:NM_001199014:exon6:c.T60C:p.N20N |
RS1064842 |
HOMA-B:Fasting blood glucose:LDL
cholesterol change with statins:Total cholesterol change with statins:HDL
cholesterol change with statins:Advanced age-related macular degeneration |
|
1 |
26131654 |
2 |
SELENON |
G |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
26138262 |
2 |
SELENON |
T |
C |
exonic |
unknown |
UNKNOWN |
|
1 |
26496651 |
2 |
ZNF593 |
T |
C |
exonic |
synonymous SNV |
ZNF593:NM_015871:exon1:c.T177C:p.G59G |
RS7087 |
Height:Waist hip ratio:Infant head
circumference |
|
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 |
27875824 |
2 |
AHDC1 |
C |
T |
exonic |
nonsynonymous SNV |
AHDC1:NM_001029882:exon6:c.G2803A:p.A935T |
RS4908364 |
Cystatin C in serum |
|
1 |
28060574 |
2 |
FAM76A |
A |
G |
exonic |
synonymous SNV |
FAM76A:NM_001143914:exon4:c.A234G:p.A78A,FAM76A:NM_152660:exon4:c.A234G:p.A78A,FAM76A:NM_001143912:exon5:c.A336G:p.A112A,FAM76A:NM_001143913:exon5:c.A336G:p.A112A |
RS6670793 |
Triglycerides |
|
1 |
29475341 |
2 |
SRSF4 |
C |
T |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.G1066A:p.G356S |
RS2230678 |
Stabilized warfarin dose:Premature
ovarian failure:2 hour glucose:Total cholesterol:Autism with verbal
ability:Autism:HDL cholesterol:Infant head circumference:Transmission
distortion:Mitral annular calcium |
|
1 |
29475394 |
2 |
SRSF4 |
C |
G |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.G1013C:p.G338A |
RS2230677 |
Total cholesterol:Autism with
verbal ability:Autism:HDL cholesterol:Infant head circumference:Mitral
annular calcium |
|
1 |
29475648 |
2 |
SRSF4 |
T |
G |
exonic |
nonsynonymous SNV |
SRSF4:NM_005626:exon6:c.A759C:p.E253D |
RS2230679 |
Autism |
|
1 |
29529699 |
2 |
MECR |
T |
C |
exonic |
synonymous SNV |
MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A |
RS1062924 |
Triglycerides change with
statins:Total cholesterol:HDL cholesterol:Mitral annular calcium:Infant head
circumference |
|
1 |
29542637 |
2 |
MECR |
A |
G |
exonic |
nonsynonymous SNV |
MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L |
RS1128400 |
Premature ovarian
failure:Triglycerides change with statins:Triglycerides change with
statins:Total cholesterol:Autism:HDL cholesterol:Gene expression of SFRS4 in
blood:Transmission distortion:Mitral annular calcium:Maternal transmission
distortion:Paternal transmission distortion:Infant head circumference |
|
1 |
30872602 |
2 |
|
1 |
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 |
35657874 |
2 |
SFPQ |
G |
C |
exonic |
synonymous SNV |
SFPQ:NM_005066:exon1:c.C777G:p.P259P |
|
1 |
35900615 |
2 |
KIAA0319L |
A |
G |
exonic |
synonymous SNV |
KIAA0319L:NM_024874:exon21:c.T3030C:p.D1010D |
RS3814302 |
HDL cholesterol change with
statins:Rheumatoid arthritis:Comorbid depressive syndrome and alcohol
dependence:Adiponectin levels:Advanced age-related macular degeneration
(geographic atrophy) |
|
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 |
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 |
39914363 |
2 |
MACF1 |
G |
C |
exonic |
nonsynonymous SNV |
MACF1:NM_012090:exon79:c.G14009C:p.S4670T |
RS668556 |
Parkinson's disease (PD):2 hour
glucose:Fasting blood glucose:HDL cholesterol:Total cholesterol:Lp-PLA2
mass:Serum concentration of leucylleucine:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Prostate cancer |
|
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 |
40506697 |
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 |
43212431 |
2 |
P3H1 |
A |
G |
exonic |
synonymous SNV |
P3H1:NM_022356:exon15:c.T2148C:p.G716G |
|
1 |
43919413 |
2 |
HYI |
A |
G |
exonic |
nonsynonymous SNV |
HYI:NM_001190880:exon1:c.T52C:p.S18P,HYI:NM_001243526:exon1:c.T52C:p.S18P,HYI:NM_001330526:exon1:c.T52C:p.S18P,HYI:NM_031207:exon1:c.T52C:p.S18P |
|
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 |
46073489 |
2 |
NASP |
G |
A |
exonic |
synonymous SNV |
NASP:NM_001195193:exon4:c.G714A:p.P238P,NASP:NM_002482:exon6:c.G906A:p.P302P |
RS2230657 |
Gene expression of AKR1A1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:Cystatin C in
serum:HDL cholesterol:Height:Body mass index (BMI) |
|
1 |
46078854 |
2 |
NASP |
A |
G |
exonic |
synonymous SNV |
NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S |
RS2230658 |
Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.390503 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-IR:Fasting blood
glucose:Fasting insulin:Cystatin C in serum:Serum
creatinine:Autism:Height:Body mass index (BMI):Gene expression of IPP
(probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Allele-specific Expression Patterns in human glioblastoma
cell line U87MG:Aortic valve calcium:Gene expression of IPP (probeID
ILMN_1789106) in cerebellum in Alzheimer's disease cases and controls |
|
1 |
46078884 |
2 |
NASP |
C |
T |
exonic |
synonymous SNV |
NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T |
RS2230659 |
Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of IPP [probe
1554740_a_at] in lymphoblastoid cell lines:Gene expression of probe
1560263_at in lymphoblastoid cell lines:Gene expression of IPP in
lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell
lines:HOMA-IR:Fasting blood glucose:Fasting insulin:Cystatin C in serum:Serum
creatinine:Height:Body mass index (BMI):Aortic valve calcium:Gene expression
of IPP (probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of IPP (probeID ILMN_1789106) in cerebellum in
Alzheimer's disease cases and controls:Years of education |
|
1 |
46476587 |
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 |
46498375 |
2 |
MAST2 |
A |
G |
exonic |
synonymous SNV |
MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V |
RS1622208 |
Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at
in lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell
lines:Gene expression of IPP in lymphoblastoid cell lines:Hip bone mineral
density (BMD):Rheumatoid arthritis:Longstanding arthritis:Arthritis including
non-Rheumatoid:HOMA-IR:Fasting insulin:Fasting blood glucose:Cystatin C in
serum:Rheumatoid arthritis:Height:Body mass index (BMI):Comorbid depressive
syndrome and alcohol dependence:Hypertension (early onset hypertension):Years
of education:Allele-specific Expression Patterns in human glioblastoma cell
line U87MG:Obesity with early age of onset (age >2) |
|
1 |
46521559 |
2 |
LOC110117498-PIK3R3;PIK3R3 |
A |
T |
exonic |
nonsynonymous SNV |
PIK3R3:NM_001328654:exon5:c.T381A:p.N127K,PIK3R3:NM_001328653:exon6:c.T606A:p.N202K,LOC110117498-PIK3R3:NM_001303427:exon7:c.T987A:p.N329K,PIK3R3:NM_001328648:exon7:c.T717A:p.N239K,PIK3R3:NM_001328649:exon7:c.T717A:p.N239K,PIK3R3:NM_001328650:exon7:c.T717A:p.N239K,PIK3R3:NM_001328651:exon7:c.T717A:p.N239K,PIK3R3:NM_001328652:exon7:c.T849A:p.N283K,PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K,PIK3R3:NM_001303428:exon8:c.T900A:p.N300K |
RS785467 |
Gene expression of Hs.396207 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe
219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at
in lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell
lines:Gene expression of IPP in lymphoblastoid cell lines:HOMA-IR:Fasting
blood glucose:Fasting insulin:Serum creatinine:Cystatin C in serum:Rheumatoid
arthritis:Height:Body mass index (BMI):Years of education:Obesity with early
age of onset (age >2) |
|
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 |
47904909 |
2 |
FOXD2 |
G |
C |
exonic |
nonsynonymous SNV |
FOXD2:NM_004474:exon1:c.G1102C:p.A368P |
|
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 |
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 |
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 |
62380270 |
2 |
PATJ |
C |
T |
exonic |
synonymous SNV |
PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N |
|
1 |
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 |
65860687 |
2 |
DNAJC6 |
A |
C |
exonic |
synonymous SNV |
DNAJC6:NM_001256864:exon13:c.A2010C:p.P670P,DNAJC6:NM_014787:exon13:c.A1839C:p.P613P,DNAJC6:NM_001256865:exon14:c.A1800C:p.P600P |
RS4582839 |
Fasting blood glucose:Body mass
index (BMI):Age at menarche:Urinary albumin-to-creatinine
ratio:Microalbuminuria |
|
1 |
66095903 |
1 |
LEPR |
T |
C |
exonic |
nonsynonymous SNV |
LEPR:NM_001198687:exon19:c.T2692C:p.F898L,LEPR:NM_001003680:exon20:c.T2692C:p.F898L |
|
1 |
67390416 |
2 |
WDR78 |
G |
C |
exonic |
nonsynonymous SNV |
WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W |
RS3008858 |
Cystatin C in
serum:Height:Microalbuminuria:Birth weight:College completion:Obesity with
early age of onset (age >2) |
|
1 |
67390468 |
2 |
WDR78 |
C |
G |
exonic |
nonsynonymous SNV |
WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A |
RS1886686 |
Cystatin C in
serum:Height:Microalbuminuria:College completion:Obesity with early age of
onset (age >2):Birth weight |
|
1 |
72058552 |
2 |
NEGR1 |
G |
A |
exonic |
synonymous SNV |
NEGR1:NM_173808:exon6:c.C888T:p.T296T |
|
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 |
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 |
85624549 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon7:c.G3469A:p.V1157I |
|
1 |
85624864 |
2 |
SYDE2 |
G |
A |
exonic |
synonymous SNV |
SYDE2:NM_032184:exon7:c.C3154T:p.L1052L |
|
1 |
85648620 |
2 |
SYDE2 |
C |
T |
exonic |
nonsynonymous SNV |
SYDE2:NM_032184:exon3:c.G1705A:p.V569I |
|
1 |
89322982 |
2 |
GTF2B |
G |
A |
exonic |
synonymous SNV |
GTF2B:NM_001514:exon6:c.C724T:p.L242L |
|
1 |
90178743 |
2 |
LRRC8C |
A |
G |
exonic |
nonsynonymous SNV |
LRRC8C:NM_032270:exon3:c.A614G:p.D205G |
|
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 |
92174260 |
2 |
TGFBR3 |
A |
G |
exonic |
synonymous SNV |
TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T |
RS284878 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:Birth weight:Advanced
age-related macular degeneration (geographic atrophy) |
|
1 |
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 |
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 |
94639447 |
2 |
ARHGAP29 |
C |
T |
exonic |
nonsynonymous SNV |
ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D |
|
1 |
95001600 |
2 |
F3 |
A |
C |
exonic |
synonymous SNV |
F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P |
|
1 |
95709821 |
2 |
RWDD3 |
T |
C |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A |
|
1 |
95709939 |
2 |
RWDD3 |
T |
G |
exonic |
nonsynonymous SNV |
RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K |
RS2296308 |
Rheumatoid arthritis:Gene
expression of TTC25 in peripheral blood monocytes:Partial
epilepsy:Neuroblastoma (brain cancer):Serum ratio of
(ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Hypertension (early onset
hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid |
|
1 |
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 |
100203648 |
2 |
FRRS1 |
C |
T |
exonic |
synonymous SNV |
FRRS1:NM_001013660:exon7:c.G753A:p.Q251Q |
RS7537296 |
Gene expression of FRRS1 in normal
prepouch ileum:College completion:Years of education |
|
1 |
100203693 |
2 |
FRRS1 |
G |
A |
exonic |
synonymous SNV |
FRRS1:NM_001013660:exon7:c.C708T:p.S236S |
RS7514021 |
Asthma:Gene expression of FRRS1 in
normal prepouch ileum:Years of education:College completion |
|
1 |
100336361 |
2 |
AGL |
C |
T |
exonic |
synonymous SNV |
AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L |
RS2230306 |
LDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
1 |
109486196 |
2 |
CLCC1 |
A |
G |
exonic |
synonymous SNV |
CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T |
RS338466 |
Longstanding arthritis:Premature
ovarian failure:Gene expression of GPSM2 in CD4+ lymphocytes:Urinary
albumin-to-creatinine ratio:Gene expression of KIAA1324 in blood:Bipolar
disorder:Major depressive disorder:Amyotrophic lateral sclerosis
(ALS):Maternal transmission distortion:Paclitaxel-induced cytotoxicity in
lymphoblastoid cell lines:Major depressive disorder and bipolar disorder
combined analysis:Transmission distortion:Gene expression of AKNAD1
(ENSG00000162641) in dendritic cells treated with Mycobacterium
tuberculosis:Paternal transmission distortion |
|
1 |
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 |
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 |
110882444 |
2 |
RBM15 |
A |
G |
exonic |
synonymous SNV |
RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E |
|
1 |
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 |
114948281 |
2 |
TRIM33 |
A |
G |
exonic |
nonsynonymous SNV |
TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T |
RS6537825 |
Barnes Akathisia Rating
Scale:Height:Waist hip ratio:Years of education |
|
1 |
118148229 |
2 |
|
1 |
120165826 |
2 |
ZNF697 |
C |
T |
exonic |
synonymous SNV |
ZNF697:NM_001080470:exon3:c.G1140A:p.P380P |
RS12076924 |
PROP taste detection threshold |
|
1 |
120166681 |
2 |
ZNF697 |
G |
A |
exonic |
synonymous SNV |
ZNF697:NM_001080470:exon3:c.C285T:p.S95S |
RS12067843 |
PROP taste detection threshold |
|
1 |
144828583 |
1 |
NBPF8;NBPF9 |
G |
A |
exonic |
unknown |
UNKNOWN |
|
1 |
144852390 |
1 |
PDE4DIP |
C |
T |
exonic |
stopgain |
PDE4DIP:NM_001198834:exon44:c.G7053A:p.W2351X,PDE4DIP:NM_001350521:exon46:c.G7347A:p.W2449X,PDE4DIP:NM_001350522:exon46:c.G7002A:p.W2334X,PDE4DIP:NM_001350523:exon46:c.G6732A:p.W2244X |
|
1 |
144852476 |
1 |
PDE4DIP |
T |
C |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350522:exon46:c.A6916G:p.M2306V |
|
1 |
144854597 |
1 |
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 |
1 |
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 |
144865850 |
1 |
PDE4DIP |
G |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon31:c.C6216A:p.D2072E,PDE4DIP:NM_001198834:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_014644:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_001198832:exon37:c.C5412A:p.D1804E,PDE4DIP:NM_001350523:exon37:c.C5409A:p.D1803E,PDE4DIP:NM_001350521:exon38:c.C6141A:p.D2047E,PDE4DIP:NM_001350522:exon38:c.C5928A:p.D1976E |
|
1 |
144874760 |
1 |
PDE4DIP |
T |
C |
exonic |
synonymous SNV |
PDE4DIP:NM_001350520:exon26:c.A5334G:p.E1778E,PDE4DIP:NM_001198834:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_014644:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_001198832:exon33:c.A4716G:p.E1572E,PDE4DIP:NM_001350521:exon33:c.A5259G:p.E1753E,PDE4DIP:NM_001350522:exon33:c.A5046G:p.E1682E,PDE4DIP:NM_001350523:exon33:c.A4713G:p.E1571E |
|
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 |
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 |
144882823 |
1 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon20:c.G3685A:p.A1229T,PDE4DIP:NM_001198834:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_014644:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_001198832:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350521:exon27:c.G3607A:p.A1203T,PDE4DIP:NM_001350522:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350523:exon27:c.G3394A:p.A1132T |
|
1 |
144886197 |
1 |
PDE4DIP |
A |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001350520:exon19:c.T3526A:p.F1176I,PDE4DIP:NM_001198834:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_014644:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_001198832:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350521:exon26:c.T3448A:p.F1150I,PDE4DIP:NM_001350522:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350523:exon26:c.T3235A:p.F1079I |
|
1 |
144912153 |
2 |
PDE4DIP |
A |
G |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R |
RS1628172 |
Allele-specific Expression Patterns
in human glioblastoma cell line U87MG |
|
1 |
144912233 |
1 |
PDE4DIP |
C |
T |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H |
|
1 |
144915561 |
1 |
PDE4DIP |
G |
A |
exonic |
stopgain |
PDE4DIP:NM_001002811:exon10:c.C2353T:p.R785X,PDE4DIP:NM_001350520:exon10:c.C2353T:p.R785X,PDE4DIP:NM_001002812:exon14:c.C1864T:p.R622X,PDE4DIP:NM_001198834:exon14:c.C1864T:p.R622X,PDE4DIP:NM_014644:exon14:c.C1864T:p.R622X,PDE4DIP:NM_001198832:exon17:c.C2062T:p.R688X,PDE4DIP:NM_001350521:exon17:c.C2275T:p.R759X,PDE4DIP:NM_001350522:exon17:c.C2062T:p.R688X,PDE4DIP:NM_001350523:exon17:c.C2062T:p.R688X |
|
1 |
144922583 |
1 |
PDE4DIP |
G |
A |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001350520:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001002812:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198834:exon7:c.C824T:p.S275L,PDE4DIP:NM_014644:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198832:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350521:exon10:c.C1235T:p.S412L,PDE4DIP:NM_001350522:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350523:exon10:c.C1022T:p.S341L |
|
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 |
144930940 |
1 |
PDE4DIP |
T |
C |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon1:c.A769G:p.K257E,PDE4DIP:NM_001350520:exon1:c.A769G:p.K257E |
RS2147326 |
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 |
144931392 |
1 |
PDE4DIP |
G |
A |
exonic |
nonsynonymous SNV |
PDE4DIP:NM_001002811:exon1:c.C317T:p.A106V,PDE4DIP:NM_001350520:exon1:c.C317T:p.A106V |
RS2798893 |
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 |
145281543 |
1 |
NOTCH2NL |
C |
T |
exonic |
nonsynonymous SNV |
NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I |
|
1 |
145293425 |
1 |
NBPF10 |
C |
A |
exonic |
nonsynonymous SNV |
NBPF10:NM_001039703:exon1:c.C20A:p.P7H,NBPF10:NM_001302371:exon1:c.C20A:p.P7H |
|
1 |
145299805 |
1 |
NBPF10 |
A |
C |
exonic |
nonsynonymous SNV |
NBPF10:NM_001039703:exon6:c.A854C:p.E285A,NBPF10:NM_001302371:exon6:c.A854C:p.E285A |
|
1 |
145299809 |
1 |
NBPF10 |
G |
A |
exonic |
nonsynonymous SNV |
NBPF10:NM_001039703:exon6:c.G858A:p.M286I,NBPF10:NM_001302371:exon6:c.G858A:p.M286I |
|
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 |
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 |
148594483 |
1 |
NBPF15 |
T |
G |
exonic |
nonsynonymous SNV |
NBPF15:NM_173638:exon19:c.T1856G:p.F619C,NBPF15:NM_001170755:exon22:c.T1856G:p.F619C |
|
1 |
149290779 |
2 |
FAM231D;LOC100996741;LOC388692 |
T |
G |
exonic |
nonsynonymous SNV |
LOC388692:NM_001013644:exon1:c.T251G:p.L84R,FAM231D:NM_001348147:exon1:c.T251G:p.L84R,LOC100996741:NM_001348152:exon1:c.T251G:p.L84R |
|
1 |
149290801 |
2 |
FAM231D;LOC100996741;LOC388692 |
C |
G |
exonic |
nonsynonymous SNV |
LOC388692:NM_001013644:exon1:c.C273G:p.D91E,FAM231D:NM_001348147:exon1:c.C273G:p.D91E,LOC100996741:NM_001348152:exon1:c.C273G:p.D91E |
|
1 |
150531008 |
2 |
ADAMTSL4 |
T |
C |
exonic |
synonymous SNV |
ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N |
RS10888382 |
HDL cholesterol:Total
cholesterol:Serum creatinine:Chronic kidney disease:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Aortic valve calcium:Obesity with early
age of onset (age >2) |
|
1 |
150531050 |
2 |
ADAMTSL4 |
G |
A |
exonic |
synonymous SNV |
ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P |
|
1 |
150771703 |
2 |
CTSK |
T |
C |
exonic |
synonymous SNV |
CTSK:NM_000396:exon7:c.A831G:p.A277A |
RS10788796 |
Triglycerides:Parkinson's disease |
|
1 |
151239051 |
2 |
PSMD4 |
T |
C |
exonic |
synonymous SNV |
PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S |
RS7489 |
Rheumatoid arthritis:Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of ZNF687
(ENSG00000143373) in dendritic cells |
|
1 |
151288391 |
2 |
PI4KB |
A |
G |
exonic |
synonymous SNV |
PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D |
|
1 |
151316161 |
2 |
RFX5 |
G |
A |
exonic |
synonymous SNV |
RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L |
|
1 |
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 |
154561925 |
2 |
ADAR |
C |
T |
exonic |
synonymous SNV |
ADAR:NM_001025107:exon9:c.G1797A:p.V599V,ADAR:NM_001111:exon9:c.G2682A:p.V894V,ADAR:NM_001193495:exon9:c.G1797A:p.V599V,ADAR:NM_015840:exon9:c.G2604A:p.V868V,ADAR:NM_015841:exon9:c.G2547A:p.V849V |
RS1127309 |
Triglycerides:Gene expression of
ADAR in normal prepouch ileum |
|
1 |
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 |
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 |
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 |
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 |
160393905 |
2 |
VANGL2 |
A |
G |
exonic |
synonymous SNV |
VANGL2:NM_020335:exon7:c.A1137G:p.K379K |
RS12086448 |
LDL cholesterol:Height:Gene
expression of NHLH1 (ENSG00000171786) in dendritic cells treated with
Mycobacterium tuberculosis |
|
1 |
165652273 |
2 |
ALDH9A1 |
A |
G |
exonic |
synonymous SNV |
ALDH9A1:NM_000696:exon3:c.T402C:p.I134I |
RS1143659 |
HOMA-B:Lp-PLA2 mass:Lp-PLA2
activity:Serum ratio of (4-hydroxyphenylacetate)/(inosine) |
|
1 |
167906239 |
2 |
DCAF6 |
A |
C |
exonic |
synonymous SNV |
DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_001349773:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R |
|
1 |
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 |
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 |
179051300 |
2 |
TOR3A |
T |
C |
exonic |
nonsynonymous SNV |
TOR3A:NM_022371:exon1:c.T37C:p.F13L |
RS2296377 |
Total cholesterol change with
statins |
|
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 |
181058643 |
2 |
IER5 |
A |
G |
exonic |
nonsynonymous SNV |
IER5:NM_016545:exon1:c.A605G:p.Q202R |
|
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 |
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 |
196227526 |
2 |
KCNT2 |
A |
G |
exonic |
synonymous SNV |
KCNT2:NM_001287819:exon25:c.T2937C:p.D979D,KCNT2:NM_001287820:exon25:c.T2808C:p.D936D,KCNT2:NM_198503:exon26:c.T3009C:p.D1003D |
|
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 |
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 |
197070901 |
2 |
ASPM |
A |
G |
exonic |
nonsynonymous SNV |
ASPM:NM_018136:exon18:c.T7480C:p.Y2494H |
|
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 |
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 |
201981862 |
2 |
ELF3 |
T |
C |
exonic |
synonymous SNV |
ELF3:NM_001114309:exon5:c.T573C:p.P191P,ELF3:NM_004433:exon5:c.T573C:p.P191P |
RS2819362 |
HOMA-B:Total cholesterol:Mitral
annular calcium:Gene expression of RNPEP in normal prepouch ileum |
|
1 |
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 |
204379617 |
2 |
PPP1R15B |
T |
C |
exonic |
nonsynonymous SNV |
PPP1R15B:NM_032833:exon1:c.A923G:p.N308S |
RS3014626 |
Barnes Akathisia Rating Scale |
|
1 |
205272983 |
2 |
NUAK2 |
C |
G |
exonic |
synonymous SNV |
NUAK2:NM_030952:exon7:c.G1614C:p.L538L |
RS1106202 |
Fasting blood glucose:HOMA-B:Gene
expression of DSTYK (ENSG00000133059) in dendritic cells |
|
1 |
205275421 |
2 |
NUAK2 |
A |
G |
exonic |
synonymous SNV |
NUAK2:NM_030952:exon5:c.T717C:p.G239G |
|
1 |
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 |
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 |
214811244 |
2 |
CENPF |
C |
G |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon11:c.C1482G:p.H494Q |
RS2070065 |
HDL cholesterol change with
statins:Serum concentration of glycerol:Birth weight |
|
1 |
214816224 |
2 |
CENPF |
G |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon12:c.G4543A:p.A1515T |
RS2666839 |
Schizophrenia:HDL cholesterol
change with statins:Late onset Alzheimer's disease:Serum concentration of
3-phenylpropionate (hydrocinnamate):Birth weight:Aortic valve calcium |
|
1 |
214818223 |
2 |
CENPF |
T |
A |
exonic |
nonsynonymous SNV |
CENPF:NM_016343:exon13:c.T5310A:p.H1770Q |
RS3748693 |
HDL cholesterol change with
statins:Birth weight |
|
1 |
220197625 |
2 |
EPRS |
G |
T |
exonic |
nonsynonymous SNV |
EPRS:NM_004446:exon8:c.C924A:p.D308E |
RS2230301 |
Stabilized warfarin
dose:Triglycerides:Differential exon level expression of EPRS [probe 2456787]
in peripheral blood mononuclear cells:Differential exon level expression of
EPRS [probe 2456787] in brain cortex:Aortic valve calcium:Amyotrophic lateral
sclerosis (ALS) age of onset:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy) |
|
1 |
220970028 |
2 |
1-Mar |
A |
G |
exonic |
nonsynonymous SNV |
MARC1:NM_022746:exon3:c.A493G:p.T165A |
RS2642438 |
Rheumatoid arthritis:HDL
cholesterol:LDL cholesterol:Serum creatinine:Triglycerides:HDL
cholesterol:Total cholesterol:LDL cholesterol:Plasma docosapentaenoic acid
levels |
|
1 |
222802006 |
2 |
MIA3 |
A |
G |
exonic |
nonsynonymous SNV |
MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E |
|
1 |
222802926 |
2 |
MIA3 |
C |
T |
exonic |
synonymous SNV |
MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S |
|
1 |
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 |
223177574 |
2 |
DISP1 |
A |
G |
exonic |
synonymous SNV |
DISP1:NM_001350630:exon9:c.A2106G:p.K702K,DISP1:NM_032890:exon10:c.A2835G:p.K945K |
RS2609355 |
Serum concentration of
1-arachidonoylglycerophosphoethanolamine*:Adiponectin levels |
|
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 |
225974614 |
1 |
SRP9 |
A |
G |
exonic |
nonsynonymous SNV |
SRP9:NM_001130440:exon3:c.A192G:p.I64M |
|
1 |
226474132 |
2 |
LIN9 |
G |
A |
exonic |
synonymous SNV |
LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F |
RS10799347 |
Methylation levels at
chr1:224477581-224477631 [hg18 coord, probe cg18354264] in Caudal
pons:Methylation levels at chr1:224477581-224477631 [hg18 coord, probe
cg18354264] in Frontal cortex:Methylation levels at chr1:224477581-224477631
[hg18 coord, probe cg18354264] in Cerebellum:Methylation levels at
chr1:224477581-224477631 [hg18 coord, probe cg18354264] in Temporal
cortex:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine
ratio:Years of education:Infant head circumference |
|
1 |
226570840 |
2 |
PARP1 |
T |
C |
exonic |
synonymous SNV |
PARP1:NM_001618:exon8:c.A1056G:p.K352K |
RS1805415 |
LDL cholesterol:Chronic kidney
disease:LDL cholesterol:Total cholesterol:Waist hip ratio:Refractive
error:Infant head circumference |
|
1 |
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 |
227923081 |
2 |
JMJD4 |
G |
A |
exonic |
nonsynonymous SNV |
JMJD4:NM_001161465:exon1:c.C32T:p.A11V,JMJD4:NM_023007:exon1:c.C32T:p.A11V |
|
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 |
231557255 |
2 |
EGLN1 |
C |
G |
exonic |
nonsynonymous SNV |
EGLN1:NM_022051:exon1:c.G380C:p.C127S |
|
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 |
236721731 |
2 |
HEATR1 |
T |
C |
exonic |
synonymous SNV |
HEATR1:NM_018072:exon36:c.A5010G:p.A1670A |
|
1 |
242045275 |
2 |
EXO1 |
C |
T |
exonic |
nonsynonymous SNV |
EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C |
|
1 |
246021941 |
2 |
SMYD3 |
T |
C |
exonic |
synonymous SNV |
SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A |
RS2362587 |
HDL cholesterol:LDL
cholesterol:Total cholesterol:HDL
cholesterol:Triglycerides:Microalbuminuria:Advanced age-related macular
degeneration (geographic atrophy) |
|
1 |
246714587 |
2 |
TFB2M |
G |
A |
exonic |
synonymous SNV |
TFB2M:NM_022366:exon5:c.C723T:p.P241P |
|
1 |
246720798 |
2 |
TFB2M |
G |
A |
exonic |
synonymous SNV |
TFB2M:NM_022366:exon3:c.C441T:p.I147I |
|
1 |
246755124 |
2 |
CNST |
T |
C |
exonic |
nonsynonymous SNV |
CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S |
RS6702823 |
Stabilized warfarin dose:2 hour
glucose:Rheumatoid arthritis:Serum ratio of
(2-stearoylglycerophosphocholine*)/(alpha-ketoglutarate):Maternal
transmission distortion:Parkinson's disease:Coronary artery disease
(CAD):Tetrology of fallot |
|
1 |
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 |
10188649 |
1 |
KLF11 |
A |
T |
exonic |
synonymous SNV |
KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V |
|
2 |
10712278 |
1 |
NOL10 |
C |
T |
exonic |
synonymous SNV |
NOL10:NM_001261392:exon20:c.G1908A:p.L636L,NOL10:NM_001261394:exon20:c.G1836A:p.L612L,NOL10:NM_024894:exon21:c.G1986A:p.L662L |
RS3732114 |
Triglycerides:Differential exon
level expression of NOL10 [probe 2540222] in peripheral blood mononuclear
cells:Differential exon level expression of NOL10 [probe 2540222] in brain
cortex:Gene expression of HPCAL1 in blood:Bipolar disorder |
|
2 |
10933249 |
1 |
PDIA6 |
C |
T |
exonic |
synonymous SNV |
PDIA6:NM_005742:exon5:c.G426A:p.R142R,PDIA6:NM_001282705:exon6:c.G570A:p.R190R,PDIA6:NM_001282706:exon6:c.G441A:p.R147R,PDIA6:NM_001282707:exon6:c.G417A:p.R139R,PDIA6:NM_001282704:exon7:c.G582A:p.R194R |
RS4799 |
Differential splicing of PDIA6
[probeset 2540337] in lymphoblastoid cell lines:Bipolar disorder:Severe
diabetic retinopathy:Schizophrenia:Gene expression of PDIA6 in blood:Serum
ratio of (biliverdin)/(oleoylcarnitine):Variant Creutzfeldt-Jakob disease:Parkinson's
disease |
|
2 |
15607842 |
1 |
NBAS |
T |
C |
exonic |
nonsynonymous SNV |
NBAS:NM_015909:exon18:c.A1964G:p.K655R |
RS4668909 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:Differential exon level
expression of NAG [probe 2541373] in brain cortex:Premature ovarian
failure:Waist hip ratio:College completion:Years of education:Parkinson's
disease:Tetrology of fallot |
|
2 |
15614404 |
1 |
NBAS |
T |
C |
exonic |
synonymous SNV |
NBAS:NM_015909:exon15:c.A1386G:p.R462R |
RS13014906 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:College
completion:Parkinson's disease:Years of education |
|
2 |
15615910 |
1 |
NBAS |
A |
G |
exonic |
synonymous SNV |
NBAS:NM_015909:exon14:c.T1242C:p.S414S |
RS1990754 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:College completion:Years of
education:Parkinson's disease |
|
2 |
15674686 |
1 |
NBAS |
T |
C |
exonic |
nonsynonymous SNV |
NBAS:NM_015909:exon9:c.A727G:p.I243V |
RS13029846 |
Differential splicing of NAG
[probeset 2541373] in lymphoblastoid cell lines:Differential exon level
expression of NAG [probe 2541373] in brain cortex:Premature ovarian
failure:Years of education:College completion:Parkinson's disease:Tetrology
of fallot |
|
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 |
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 |
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 |
21235475 |
2 |
APOB |
T |
C |
exonic |
nonsynonymous SNV |
APOB:NM_000384:exon26:c.A4265G:p.Y1422C |
|
2 |
23865260 |
2 |
KLHL29 |
T |
C |
exonic |
synonymous SNV |
KLHL29:NM_052920:exon5:c.T480C:p.I160I |
|
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 |
25141538 |
1 |
ADCY3 |
A |
G |
exonic |
nonsynonymous SNV |
ADCY3:NM_001320613:exon2:c.T319C:p.S107P,ADCY3:NM_004036:exon2:c.T319C:p.S107P |
RS11676272 |
Height:Body mass index (BMI):Body
mass index (BMI):Gene expression of ADCY3 in normal prepouch ileum:Body mass
index (BMI):Obesity with early age of onset (age >2):Coronary artery
disease (CAD) |
|
2 |
26203678 |
2 |
KIF3C |
T |
C |
exonic |
nonsynonymous SNV |
KIF3C:NM_002254:exon1:c.A1109G:p.Q370R |
|
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 |
27424636 |
1 |
SLC5A6 |
G |
A |
exonic |
nonsynonymous SNV |
SLC5A6:NM_021095:exon14:c.C1442T:p.S481F |
RS1395 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Serum creatinine:Total
cholesterol:Triglycerides:Waist hip ratio:Atopy:Allergic rhinitis:Gene
expression of SLC5A6///C2orf28 in blood:Gene expression of C2orf28 in
blood:Gene expression of SLC5A6 in blood:Variant Creutzfeldt-Jakob
disease:Crohn's disease:Gene expression of SLC5A6 in normal prepouch
ileum:Serum urate:Gene expression of C2orf28 in normal prepouch ileum |
|
2 |
27428295 |
2 |
SLC5A6 |
A |
G |
exonic |
synonymous SNV |
SLC5A6:NM_021095:exon7:c.T657C:p.I219I |
|
2 |
27435250 |
2 |
ATRAID |
A |
G |
exonic |
nonsynonymous SNV |
ATRAID:NM_001170795:exon1:c.A14G:p.D5G,ATRAID:NM_080592:exon1:c.A179G:p.D60G |
|
2 |
27440785 |
2 |
CAD |
C |
T |
exonic |
synonymous SNV |
CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T |
|
2 |
27460968 |
1 |
CAD |
A |
G |
exonic |
synonymous SNV |
CAD:NM_001306079:exon29:c.A4584G:p.A1528A,CAD:NM_004341:exon30:c.A4773G:p.A1591A |
RS1141313 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Serum creatinine:Chronic kidney
disease:Autism:Total cholesterol:Triglycerides:Waist hip ratio |
|
2 |
27462076 |
1 |
CAD |
C |
T |
exonic |
synonymous SNV |
CAD:NM_001306079:exon31:c.C5040T:p.P1680P,CAD:NM_004341:exon32:c.C5229T:p.P1743P |
RS3739092 |
Triglycerides:Fasting blood
glucose:Total cholesterol:Triglycerides:Waist hip ratio |
|
2 |
27550967 |
1 |
GTF3C2 |
A |
G |
exonic |
synonymous SNV |
GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P |
RS1049817 |
Triglycerides:Triglycerides:Fasting
blood glucose:LDL cholesterol change with statins:Total cholesterol change
with statins:Total cholesterol:Triglycerides change with statins:Serum
creatinine:Triglycerides:Total cholesterol:Height:Serum urate:Waist hip ratio:Coronary
artery disease (CAD):Advanced age-related macular degeneration (geographic
atrophy):Gene expression of SLC5A6 in normal prepouch ileum:Adiponectin
levels:Triglycerides:Serum urate:Gene expression of NRBP1 in normal prepouch
ileum |
|
2 |
29092850 |
2 |
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 |
29169612 |
2 |
WDR43 |
T |
C |
exonic |
synonymous SNV |
WDR43:NM_015131:exon18:c.T2001C:p.D667D |
RS3087649 |
Triglycerides change with
statins:Gene expression of TRMT61B in normal prepouch ileum:Gene expression
of WDR43 in normal prepouch ileum:Birth weight |
|
2 |
30381505 |
1 |
YPEL5 |
T |
C |
exonic |
synonymous SNV |
YPEL5:NM_016061:exon3:c.T162C:p.S54S,YPEL5:NM_001127399:exon4:c.T162C:p.S54S,YPEL5:NM_001127400:exon4:c.T162C:p.S54S,YPEL5:NM_001127401:exon5:c.T162C:p.S54S |
RS1137288 |
LDL cholesterol:Comorbid depressive
syndrome and alcohol dependence:Taste change in healthy volunteers in
response to topiramate treatment (Normal taste):Tetrology of fallot |
|
2 |
32667182 |
2 |
BIRC6 |
G |
C |
exonic |
nonsynonymous SNV |
BIRC6:NM_016252:exon18:c.G3994C:p.V1332L |
|
2 |
32855615 |
2 |
TTC27 |
A |
G |
exonic |
synonymous SNV |
TTC27:NM_017735:exon2:c.A114G:p.L38L |
|
2 |
32983526 |
1 |
TTC27 |
C |
T |
exonic |
synonymous SNV |
TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N |
RS2273665 |
Nonsyndromic cleft lip with or
without cleft palate:Urinary albumin-to-creatinine ratio:PROP taste detection
threshold:Diabetic retinopathy in Type 2 diabetes mellitus:Aortic valve
calcium |
|
2 |
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 |
37306343 |
2 |
HEATR5B |
G |
A |
exonic |
synonymous SNV |
HEATR5B:NM_019024:exon3:c.C258T:p.F86F |
|
2 |
37505105 |
1 |
PRKD3 |
T |
G |
exonic |
synonymous SNV |
PRKD3:NM_005813:exon8:c.A1200C:p.L400L |
RS10460527 |
Microalbuminuria:Comorbid
depressive syndrome and alcohol dependence:Advanced age-related macular
degeneration (geographic atrophy) |
|
2 |
37506939 |
1 |
PRKD3 |
A |
G |
exonic |
synonymous SNV |
PRKD3:NM_005813:exon7:c.T1122C:p.D374D |
RS3770761 |
Comorbid depressive syndrome and
alcohol dependence:Acute lung injury following major trauma |
|
2 |
39507417 |
2 |
MAP4K3 |
T |
A |
exonic |
synonymous SNV |
MAP4K3:NM_001270425:exon22:c.A1647T:p.T549T,MAP4K3:NM_003618:exon23:c.A1710T:p.T570T |
RS3755176 |
Serum creatinine:Diastolic blood
pressure (DBP):Systolic blood pressure (SBP):Diabetic retinopathy in Type 2
diabetes mellitus:Coronary artery disease (CAD) |
|
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 |
42515388 |
1 |
EML4 |
A |
G |
exonic |
nonsynonymous SNV |
EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V |
RS10202624 |
LDL
cholesterol:Triglycerides:Cystatin C in serum:Asthma:Waist hip ratio:Serum
ratio of (3-indoxyl sulfate)/(valerate):Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):Aortic valve calcium |
|
2 |
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 |
45640374 |
1 |
SRBD1 |
C |
A |
exonic |
nonsynonymous SNV |
SRBD1:NM_018079:exon19:c.G2392T:p.V798F |
RS3755073 |
Schizophrenia:Height:Age at death
with kuru exposure:Adiponectin levels |
|
2 |
46618321 |
2 |
|
2 |
48010488 |
1 |
MSH6 |
G |
A |
exonic |
nonsynonymous SNV |
MSH6:NM_000179:exon1:c.G116A:p.G39E,MSH6:NM_001281492:exon1:c.G116A:p.G39E |
|
2 |
48751471 |
2 |
|
2 |
55771161 |
2 |
CFAP36 |
A |
G |
exonic |
nonsynonymous SNV |
CFAP36:NM_080667:exon8:c.A728G:p.D243G,CFAP36:NM_001282761:exon9:c.A803G:p.D268G |
RS1045910 |
HDL cholesterol change with
statins:HDL cholesterol change with statins:Total cholesterol:Triglycerides
change with statins:Height:Systolic blood pressure (SBP):Diastolic blood
pressure (DBP):Adiponectin levels:Parkinson's disease |
|
2 |
55771169 |
1 |
CFAP36 |
A |
T |
exonic |
nonsynonymous SNV |
CFAP36:NM_080667:exon8:c.A736T:p.I246F,CFAP36:NM_001282761:exon9:c.A811T:p.I271F |
RS1045920 |
Comorbid depressive syndrome and
alcohol dependence |
|
2 |
55805440 |
2 |
PPP4R3B |
T |
C |
exonic |
nonsynonymous SNV |
PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V |
|
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 |
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 |
62733253 |
2 |
TMEM17 |
C |
T |
exonic |
synonymous SNV |
TMEM17:NM_198276:exon1:c.G12A:p.P4P |
|
2 |
65217089 |
1 |
SLC1A4 |
G |
C |
exonic |
synonymous SNV |
SLC1A4:NM_003038:exon1:c.G312C:p.S104S |
|
2 |
68270068 |
1 |
C1D |
A |
G |
exonic |
nonsynonymous SNV |
C1D:NM_006333:exon5:c.T379C:p.S127P,C1D:NM_173177:exon5:c.T379C:p.S127P,C1D:NM_001190263:exon6:c.T379C:p.S127P,C1D:NM_001190265:exon6:c.T379C:p.S127P |
|
2 |
69741854 |
2 |
AAK1 |
T |
G |
exonic |
nonsynonymous SNV |
AAK1:NM_014911:exon13:c.A1525C:p.K509Q |
|
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 |
71365676 |
1 |
MPHOSPH10 |
G |
A |
exonic |
synonymous SNV |
MPHOSPH10:NM_005791:exon5:c.G1155A:p.Q385Q |
|
2 |
71417065 |
2 |
PAIP2B |
G |
T |
exonic |
synonymous SNV |
PAIP2B:NM_020459:exon3:c.C225A:p.P75P |
RS357777 |
Gene expression of DYSF in
peripheral blood monocytes:Height:Serum concentration of myristate (14:0) |
|
2 |
73339708 |
1 |
RAB11FIP5 |
G |
A |
exonic |
synonymous SNV |
RAB11FIP5:NM_015470:exon1:c.C198T:p.C66C |
RS1864488 |
Gene expression of RAB11FIP5
(ENSG00000135631) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of RAB11FIP5 (ENSG00000135631) in dendritic
cells |
|
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 |
75113789 |
1 |
HK2 |
C |
G |
exonic |
synonymous SNV |
HK2:NM_000189:exon15:c.C2208G:p.P736P |
|
2 |
75115108 |
1 |
HK2 |
A |
G |
exonic |
synonymous SNV |
HK2:NM_000189:exon16:c.A2298G:p.L766L |
RS10194657 |
Comorbid depressive syndrome and
alcohol dependence |
|
2 |
75923413 |
1 |
GCFC2 |
T |
C |
exonic |
nonsynonymous SNV |
GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S |
RS7560262 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Chronic kidney disease:Late onset
Alzheimer's disease:Variant Creutzfeldt-Jakob disease:Gene expression of
MRPL19 in normal prepouch ileum:Infant head circumference |
|
2 |
85549868 |
2 |
TGOLN2 |
A |
G |
exonic |
nonsynonymous SNV |
TGOLN2:NM_001206841:exon4:c.T1322C:p.L441P |
|
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 |
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 |
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 |
88874891 |
1 |
EIF2AK3 |
C |
A |
exonic |
nonsynonymous SNV |
EIF2AK3:NM_001313915:exon13:c.G1657T:p.A553S,EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S |
RS1805165 |
Height:PROP taste detection
threshold:Refractive error |
|
2 |
88895123 |
1 |
EIF2AK3 |
T |
C |
exonic |
nonsynonymous SNV |
EIF2AK3:NM_001313915:exon3:c.A44G:p.Q15R,EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R |
RS13045 |
Height:Gene expression of RPIA
[transcript NM_144563, probe A_23_P131646] in liver:Bipolar
disorder:Refractive error |
|
2 |
88913273 |
1 |
EIF2AK3 |
G |
C |
exonic |
nonsynonymous SNV |
EIF2AK3:NM_004836:exon2:c.C407G:p.S136C |
RS867529 |
Height:Height (adults):Height
(adult females):Height (adult males):PROP taste detection
threshold:Refractive error |
|
2 |
99193496 |
1 |
INPP4A |
C |
T |
exonic |
synonymous SNV |
INPP4A:NM_001351429:exon23:c.C2526T:p.S842S,INPP4A:NM_001134225:exon24:c.C2676T:p.S892S,INPP4A:NM_001351428:exon24:c.C2559T:p.S853S,INPP4A:NM_001134224:exon25:c.C2691T:p.S897S,INPP4A:NM_001351424:exon25:c.C2577T:p.S859S,INPP4A:NM_001351425:exon25:c.C2577T:p.S859S,INPP4A:NM_001351426:exon25:c.C2577T:p.S859S,INPP4A:NM_001351427:exon25:c.C2574T:p.S858S,INPP4A:NM_001566:exon25:c.C2574T:p.S858S,INPP4A:NM_004027:exon25:c.C2574T:p.S858S |
RS2230388 |
Bipolar disorder:Adiponectin
levels:Obesity with early age of onset (age >2) |
|
2 |
99778985 |
2 |
LIPT1 |
T |
C |
exonic |
synonymous SNV |
LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L |
RS2632277 |
Type 1 diabetes, gender
differentiated:Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid
cell lines:Gene expression of TSGA10 [probe 220623_s_at] in lymphoblastoid
cell lines:Childhood acute lymphoblastic leukemia:HDL cholesterol:Methylation
levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal
cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe
cg09298484] in Caudal pons:Methylation levels at chr2:99125838-99125888 [hg18
coord, probe cg09298484] in Temporal cortex:Gene expression of TSGA10 in
peripheral blood monocytes:Gene expression of MRPL30 in peripheral blood
monocytes:Gene expression of REV1 in peripheral blood monocytes:Gene
expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in
peripheral blood monocytes:Serum ratio of (linolenate [alpha or gamma;
(18:3n3 or 6)])/(riboflavin (Vitamin B2)):Gene expression of TSGA10 (probeID
ILMN_1674645) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID
ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Infant
head circumference:Gene expression of TSGA10 (probeID ILMN_1680430) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal
prepouch ileum |
|
2 |
99779131 |
1 |
LIPT1 |
T |
C |
exonic |
synonymous SNV |
LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A |
RS2516835 |
Gene expression of TSGA10 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 in
liver:Differential exon level expression of TSGA10 [probe 2566605] in
peripheral blood mononuclear cells:Gene expression of LIPT1 [probe 2495782]
in brain cortex:Differential exon level expression of TSGA10 [probe 2566619]
in peripheral blood mononuclear cells:Gene expression of TSGA10 [probe
2566586] in peripheral blood mononuclear cells:Differential exon level
expression of TSGA10 [probe 2566619] in brain cortex:Gene expression of LIPT1
[probe 2495782] in peripheral blood mononuclear cells:Differential exon level
expression of TSGA10 [probeset 2566605] in brain cortex:Gene expression of
TSGA10 in Lymphoblastoid cell lines:Gene expression of LIPT1 [probe
ILMN_1674645] in peripheral leukocytes:HDL cholesterol:Methylation levels at
chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal
cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe
cg09298484] in Temporal cortex:Methylation levels at chr2:99125838-99125888
[hg18 coord, probe cg09298484] in Caudal pons:Gene expression of TSGA10 in
CD4+ lymphocytes:Gene expression of C2orf15 in CD4+ lymphocytes:Gene
expression of MRPL30 [probe ILMN_22645] in untreated osteoblasts:Gene expression
of LIPT1 [probe ILMN_5728] in osteoblasts treated with PGE2:Gene expression
of LOC129531 [probe ILMN_27516] in osteoblasts treated with BMP2:Serum
concentration of histidine:Gene expression of TSGA10 (probeID ILMN_1680430)
in temporal cortex in Alzheimer's disease cases and controls:Gene expression
of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases
and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID
ILMN_2343105) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID
ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of LIPT1 in normal prepouch ileum:Infant head circumference |
|
2 |
101898412 |
2 |
RNF149 |
G |
C |
exonic |
nonsynonymous SNV |
RNF149:NM_173647:exon6:c.C1068G:p.D356E |
RS13151 |
Refractive error |
|
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 |
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 |
112751928 |
2 |
MERTK |
G |
A |
exonic |
nonsynonymous SNV |
MERTK:NM_006343:exon9:c.G1397A:p.R466K |
RS7604639 |
HOMA-B:Fasting
insulin:HOMA-IR:Rheumatoid arthritis:Partial epilepsy:Late onset Alzheimer's
disease:Resistance to kuru in aged women despite likely exposure:Advanced
age-related macular degeneration:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
2 |
113090047 |
2 |
ZC3H6 |
T |
C |
exonic |
synonymous SNV |
ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T |
RS4578863 |
Major depressive disorder (broad
definition):Major depressive disorder (broad definition) (females):Major
depressive disorder (broad definition) (males):HOMA-B:Fasting
insulin:HOMA-IR:Years of education:College completion:Birth weight |
|
2 |
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 |
118603844 |
2 |
|
2 |
118771566 |
1 |
CCDC93 |
C |
A |
exonic |
synonymous SNV |
CCDC93:NM_019044:exon1:c.G6T:p.G2G |
|
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 |
128934400 |
2 |
UGGT1 |
T |
C |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon32:c.T3552C:p.T1184T |
RS2290111 |
Chronic kidney disease:Height:Birth
weight |
|
2 |
128939817 |
1 |
UGGT1 |
G |
A |
exonic |
synonymous SNV |
UGGT1:NM_020120:exon37:c.G4197A:p.K1399K |
RS1699 |
Gene expression of UGCGL1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Height:Waist hip
ratio:Years of education:College completion |
|
2 |
133174999 |
2 |
GPR39 |
A |
G |
exonic |
synonymous SNV |
GPR39:NM_001508:exon1:c.A384G:p.T128T |
RS2241763 |
HOMA-B:Fasting
insulin:HOMA-IR:Serum ratio of
(1-stearoylglycerophosphocholine)/(2-palmitoylglycerophosphocholine*):Advanced
age-related macular degeneration (geographic atrophy) |
|
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 |
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 |
148657117 |
1 |
ACVR2A |
G |
A |
exonic |
synonymous SNV |
ACVR2A:NM_001278580:exon3:c.G30A:p.P10P,ACVR2A:NM_001616:exon3:c.G354A:p.P118P,ACVR2A:NM_001278579:exon4:c.G354A:p.P118P |
RS1128919 |
Major depressive disorder (broad
definition) (females):Major depressive disorder (broad definition):Major
depressive disorder (narrow definition) (females):Major depressive disorder
(narrow definition):Triglycerides change with statins:LDL cholesterol:Total
cholesterol:HDL cholesterol change with statins:Serum creatinine:Adiponectin
levels:Gene expression of ACVR2A (ENSG00000121989) in dendritic cells treated
with Mycobacterium tuberculosis:Diabetic retinopathy in Type 2 diabetes
mellitus:Parkinson's disease:Serum urate |
|
2 |
152018832 |
2 |
|
2 |
153405594 |
1 |
FMNL2 |
G |
A |
exonic |
synonymous SNV |
FMNL2:NM_052905:exon4:c.G342A:p.L114L |
RS1155779 |
Serum ratio of (p-cresol
sulfate)/(phenylacetate) |
|
2 |
158626980 |
2 |
ACVR1 |
C |
T |
exonic |
synonymous SNV |
ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E |
RS1146031 |
Polycystic ovary syndrome |
|
2 |
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 |
163128824 |
2 |
IFIH1 |
T |
C |
exonic |
nonsynonymous SNV |
IFIH1:NM_022168:exon13:c.A2528G:p.H843R |
RS3747517 |
Type 1 diabetes, combined control
dataset:Rheumatoid arthritis:Type 1 diabetes:Differential splicing of IFIH1
[probeset 2584215] in lymphoblastoid cell lines:Cystatin C in
serum:Rheumatoid arthritis:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Serum concentration of phenyllactate (PLA):Salmonella-induced
pyroptosis:Years of education |
|
2 |
166788336 |
2 |
TTC21B |
T |
C |
exonic |
nonsynonymous SNV |
TTC21B:NM_024753:exon8:c.A826G:p.T276A |
|
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 |
172180771 |
2 |
METTL8 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
2 |
175436940 |
2 |
WIPF1 |
G |
A |
exonic |
nonsynonymous SNV |
WIPF1:NM_001077269:exon5:c.C593T:p.P198L,WIPF1:NM_003387:exon5:c.C593T:p.P198L |
RS4972450 |
Total cholesterol change with
statins:College completion:Anti-TNF treatment response in rheumatoid
arthritis (by DAS-28 score change at 3 months):Refractive error:Years of
education |
|
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 |
182403851 |
2 |
CERKL |
G |
A |
exonic |
synonymous SNV |
CERKL:NM_001030312:exon9:c.C1167T:p.D389D,CERKL:NM_001030313:exon10:c.C1299T:p.D433D,CERKL:NM_001160277:exon12:c.C1452T:p.D484D,CERKL:NM_201548:exon12:c.C1506T:p.D502D,CERKL:NM_001030311:exon13:c.C1584T:p.D528D |
|
2 |
183593697 |
2 |
DNAJC10 |
C |
T |
exonic |
synonymous SNV |
DNAJC10:NM_001271581:exon7:c.C609T:p.S203S,DNAJC10:NM_018981:exon7:c.C609T:p.S203S |
RS288280 |
Differential exon level expression
of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma
(brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of
erythritol:Sporadic Creutzfeldt-Jakob disease |
|
2 |
183622547 |
2 |
DNAJC10 |
T |
G |
exonic |
nonsynonymous SNV |
DNAJC10:NM_001271581:exon18:c.T1800G:p.H600Q,DNAJC10:NM_018981:exon19:c.T1938G:p.H646Q |
RS288334 |
Differential exon level expression
of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma
(brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of
erythritol:Sporadic Creutzfeldt-Jakob disease |
|
2 |
183627504 |
2 |
DNAJC10 |
A |
G |
exonic |
synonymous SNV |
DNAJC10:NM_001271581:exon21:c.A2103G:p.K701K,DNAJC10:NM_018981:exon22:c.A2241G:p.K747K |
|
2 |
186656657 |
2 |
FSIP2 |
C |
T |
exonic |
synonymous SNV |
FSIP2:NM_173651:exon16:c.C4794T:p.N1598N |
|
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 |
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 |
191301368 |
2 |
MFSD6 |
A |
G |
exonic |
nonsynonymous SNV |
MFSD6:NM_017694:exon3:c.A613G:p.R205G |
RS9646748 |
Gene expression of MFSD6 [probe
225325_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene
expression of FLJ20160 [probe ILMN_5981] in osteoblasts:Major depressive
disorder:Total cholesterol change with statins:Triglycerides change with
statins:Lp-PLA2 mass:Partial epilepsy:Total
cholesterol:Triglycerides:Neuroblastoma (brain cancer):Gene expression of
MFSD6 in blood:Serum ratio of
(aspartylphenylalanine)/(taurochenodeoxycholate):Systolic blood pressure
(SBP):Bipolar disorder:Salmonella-induced pyroptosis:Years of education:Birth
weight |
|
2 |
191379268 |
2 |
NEMP2 |
G |
A |
exonic |
synonymous SNV |
NEMP2:NM_001142645:exon7:c.C864T:p.A288A |
RS4586658 |
Triglycerides:PROP taste detection
threshold:Birth weight |
|
2 |
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 |
197021276 |
2 |
STK17B |
T |
C |
exonic |
synonymous SNV |
STK17B:NM_004226:exon3:c.A222G:p.R74R |
RS10931726 |
Fasting insulin:HOMA-IR:Urinary
albumin-to-creatinine ratio:College completion |
|
2 |
198257795 |
2 |
SF3B1 |
T |
C |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon24:c.A3657G:p.V1219V |
RS4685 |
Rheumatoid arthritis:Gene
expression of PLCL1 in peripheral blood monocytes:Gene expression of COL6A3
in peripheral blood monocytes:Triglycerides:Infant head circumference |
|
2 |
198265526 |
2 |
SF3B1 |
A |
G |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon18:c.T2631C:p.G877G |
RS788018 |
Irritible bowel syndrome:Rheumatoid
arthritis:Gene expression of SF3B1 in blood:Gene expression of HSPD1///HSPE1
in blood:Serum concentration of cysteine:Infant head circumference |
|
2 |
198283305 |
2 |
SF3B1 |
T |
C |
exonic |
synonymous SNV |
SF3B1:NM_012433:exon5:c.A423G:p.K141K |
RS788023 |
Rheumatoid arthritis:Infant head
circumference |
|
2 |
198362018 |
2 |
HSPD1 |
T |
C |
exonic |
synonymous SNV |
HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K |
RS8539 |
Irritible bowel syndrome:2 hour
glucose:Rheumatoid arthritis:Gene expression of PLCL1 in peripheral blood
monocytes:Triglycerides:Infant head circumference |
|
2 |
202260049 |
2 |
TRAK2 |
G |
A |
exonic |
synonymous SNV |
TRAK2:NM_015049:exon8:c.C888T:p.H296H |
|
2 |
202337730 |
2 |
STRADB |
A |
G |
exonic |
synonymous SNV |
STRADB:NM_001206864:exon5:c.A246G:p.T82T,STRADB:NM_018571:exon5:c.A246G:p.T82T |
RS1019299 |
LDL cholesterol:Total
cholesterol:Obesity with early age of onset (age >2):College completion |
|
2 |
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 |
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 |
206581033 |
2 |
NRP2 |
G |
A |
exonic |
nonsynonymous SNV |
NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K |
|
2 |
206921451 |
2 |
INO80D |
G |
A |
exonic |
synonymous SNV |
INO80D:NM_017759:exon4:c.C435T:p.T145T |
RS818009 |
Major depressive
disorder:Triglycerides change with statins:Serum ratio of
(2-linoleoylglycerophosphoethanolamine*)/(bradykinin, des-arg(9)):Serum
concentration of HWESASXX*:Bipolar disorder:Maternal transmission
distortion:Advanced age-related macular degeneration:Parkinson's disease |
|
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 |
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 |
214142447 |
1 |
LOC100130451 |
G |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.C429T:p.C143C |
|
2 |
214142480 |
2 |
LOC100130451 |
T |
A |
exonic |
synonymous SNV |
LOC100130451:NM_001242575:exon3:c.A396T:p.T132T |
|
2 |
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 |
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 |
218674697 |
2 |
TNS1 |
C |
T |
exonic |
nonsynonymous SNV |
TNS1:NM_001308023:exon27:c.G4747A:p.V1583I,TNS1:NM_001308022:exon28:c.G4768A:p.V1590I,TNS1:NM_022648:exon30:c.G4810A:p.V1604I |
RS918949 |
Spine bone mineral density
(BMD):Tardive dyskinesia:HDL cholesterol:Body mass index (BMI):Gene
expression of TNS1 in blood:Systolic blood pressure (SBP):Coronary artery
disease (CAD):Lung function, forced expiratory volume in 1 second (FEV1)
percent predicted (in nonasthmatic participants) |
|
2 |
218683154 |
2 |
TNS1 |
A |
G |
exonic |
nonsynonymous SNV |
TNS1:NM_001308023:exon21:c.T3526C:p.W1176R,TNS1:NM_001308022:exon22:c.T3550C:p.W1184R,TNS1:NM_022648:exon24:c.T3589C:p.W1197R |
RS2571445 |
Spine bone mineral density
(BMD):Lung function, forced expiratory volume in 1 second (FEV1):Lung
function, forced vital capacity (FVC):Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Lung function, forced expiratory volume in 1 second (FEV1), in
ever smokers:Lung function, ratio of forced expiratory volume in 1 second
(FEV1) to forced vital capacity (FVC) (FEV1/FVC), in ever smokers:Lung
function, forced expiratory volume in 1 second (FEV1), in nonsmokers (never
smokers):HDL cholesterol:Body mass index (BMI):Gene expression of TNS1 in
blood:Serum ratio of (1,3,7-trimethylurate)/(glycocholate):Systolic blood
pressure (SBP):Lung function, forced expiratory volume in 1 second
(FEV1):Lung function, ratio of forced expiratory volume in 1 second (FEV1) to
forced vital capacity (FVC) (FEV1/FVC):Lung function, forced expiratory
volume in 1 second (FEV1) in ever smokers:Paternal transmission
distortion:Coronary artery disease (CAD):Hypertension (early onset
hypertension) |
|
2 |
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 |
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 |
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 |
220333950 |
2 |
SPEG |
T |
C |
exonic |
synonymous SNV |
SPEG:NM_005876:exon13:c.T3564C:p.P1188P |
|
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 |
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 |
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 |
233413133 |
1 |
TIGD1 |
A |
C |
exonic |
nonsynonymous SNV |
TIGD1:NM_145702:exon1:c.T1460G:p.M487R |
|
2 |
233413165 |
1 |
TIGD1 |
T |
A |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.A1428T:p.T476T |
|
2 |
233413920 |
1 |
TIGD1 |
C |
T |
exonic |
nonsynonymous SNV |
TIGD1:NM_145702:exon1:c.G673A:p.A225T |
|
2 |
233413926 |
1 |
TIGD1 |
A |
G |
exonic |
synonymous SNV |
TIGD1:NM_145702:exon1:c.T667C:p.L223L |
|
2 |
233414180 |
1 |
TIGD1 |
C |
T |
exonic |
nonsynonymous SNV |
TIGD1:NM_145702:exon1:c.G413A:p.R138K |
|
2 |
233757697 |
2 |
NGEF |
A |
G |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I |
RS895432 |
Total cholesterol change with
statins:Lp-PLA2 activity:Serum ratio of (cysteine-glutathione
disulfide)/(lathosterol):Infant head circumference:Refractive error |
|
2 |
233785015 |
2 |
NGEF |
G |
A |
exonic |
synonymous SNV |
NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P |
RS778354 |
Tardive dyskinesia:Total
cholesterol change with statins:Serum ratio of (n-Butyl Oleate)/(sebacate
(decanedioate)):Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Mitral annular calcium:Prostate cancer:Refractive error |
|
2 |
234449316 |
2 |
USP40 |
G |
A |
exonic |
synonymous SNV |
USP40:NM_018218:exon9:c.C1195T:p.L399L |
RS2167884 |
HDL cholesterol:HDL cholesterol |
|
2 |
235949877 |
2 |
SH3BP4 |
T |
C |
exonic |
nonsynonymous SNV |
SH3BP4:NM_014521:exon4:c.T464C:p.M155T |
RS3731644 |
Eye color:Fasting
insulin:HOMA-IR:Lp-PLA2 mass:Asthma:Height:PROP taste detection
threshold:Adiponectin levels:Hypertension (early onset hypertension) |
|
2 |
235949920 |
2 |
SH3BP4 |
A |
G |
exonic |
synonymous SNV |
SH3BP4:NM_014521:exon4:c.A507G:p.P169P |
RS3731645 |
Serum concentration of
erythritol:PROP taste detection threshold |
|
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 |
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 |
241538074 |
2 |
CAPN10 |
A |
G |
exonic |
nonsynonymous SNV |
CAPN10:NM_023085:exon10:c.A1531G:p.I511V,CAPN10:NM_023083:exon12:c.A1996G:p.I666V |
RS2975766 |
Autism:Triglycerides |
|
2 |
242203916 |
2 |
HDLBP |
A |
C |
exonic |
nonsynonymous SNV |
HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A |
|
3 |
3886580 |
2 |
LRRN1 |
A |
G |
exonic |
synonymous SNV |
LRRN1:NM_020873:exon2:c.A255G:p.A85A,LRRN1:NM_001324188:exon3:c.A255G:p.A85A,LRRN1:NM_001324189:exon3:c.A255G:p.A85A |
|
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 |
4842231 |
1 |
ITPR1 |
C |
T |
exonic |
synonymous SNV |
ITPR1:NM_002222:exon50:c.C6865T:p.L2289L,ITPR1:NM_001099952:exon51:c.C6910T:p.L2304L,ITPR1:NM_001168272:exon53:c.C7009T:p.L2337L |
RS2291862 |
Total cholesterol change with
statins:Total cholesterol:Serum ratio of (cystine)/(phenol sulfate):Serum
ratio of (alanine)/(glycine):Tetrology of fallot |
|
3 |
4856180 |
2 |
ITPR1 |
T |
C |
exonic |
synonymous SNV |
ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T |
RS711631 |
HDL cholesterol:LDL cholesterol
change with statins:Total cholesterol:Serum ratio of (cysteine-glutathione
disulfide)/(erythronate*):PROP taste detection threshold:Variant
Creutzfeldt-Jakob disease:Mitral annular calcium |
|
3 |
4856234 |
2 |
ITPR1 |
G |
A |
exonic |
synonymous SNV |
ITPR1:NM_002222:exon54:c.G7500A:p.K2500K,ITPR1:NM_001099952:exon55:c.G7545A:p.K2515K,ITPR1:NM_001168272:exon57:c.G7644A:p.K2548K |
RS901854 |
Total cholesterol:Mitral annular
calcium:Diabetic retinopathy in Type 2 diabetes mellitus:Coronary artery
disease (CAD):Maternal transmission distortion |
|
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 |
9985673 |
1 |
CRELD1 |
T |
C |
exonic |
nonsynonymous SNV |
CRELD1:NM_001031717:exon11:c.T1136C:p.M379T |
|
3 |
9991101 |
1 |
PRRT3 |
C |
G |
exonic |
nonsynonymous SNV |
PRRT3:NM_001318871:exon2:c.G699C:p.L233F,PRRT3:NM_207351:exon2:c.G699C:p.L233F |
|
3 |
9991388 |
2 |
PRRT3 |
G |
C |
exonic |
nonsynonymous SNV |
PRRT3:NM_001318871:exon2:c.C412G:p.Q138E,PRRT3:NM_207351:exon2:c.C412G:p.Q138E |
|
3 |
10088329 |
1 |
FANCD2 |
C |
A |
exonic |
nonsynonymous SNV |
FANCD2:NM_001018115:exon15:c.C1200A:p.D400E,FANCD2:NM_001319984:exon15:c.C1200A:p.D400E,FANCD2:NM_033084:exon15:c.C1200A:p.D400E |
|
3 |
10091153 |
1 |
FANCD2 |
C |
T |
exonic |
synonymous SNV |
FANCD2:NM_001018115:exon17:c.C1509T:p.N503N,FANCD2:NM_001319984:exon17:c.C1509T:p.N503N,FANCD2:NM_033084:exon17:c.C1509T:p.N503N |
|
3 |
10106532 |
1 |
FANCD2 |
C |
T |
exonic |
nonsynonymous SNV |
FANCD2:NM_001018115:exon23:c.C2141T:p.P714L,FANCD2:NM_001319984:exon23:c.C2141T:p.P714L,FANCD2:NM_033084:exon23:c.C2141T:p.P714L |
|
3 |
10138069 |
1 |
FANCD2 |
T |
G |
exonic |
synonymous SNV |
FANCD2:NM_001018115:exon42:c.T4098G:p.L1366L,FANCD2:NM_001319984:exon42:c.T4098G:p.L1366L,FANCD2:NM_033084:exon42:c.T4098G:p.L1366L |
RS2272125 |
Gene expression of FANCD2 in
peripheral blood monocytes:Gene expression of VHL in peripheral blood
monocytes |
|
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 |
10311939 |
1 |
TATDN2 |
C |
T |
exonic |
nonsynonymous SNV |
TATDN2:NM_014760:exon4:c.C1073T:p.P358L |
RS2075352 |
Gene expression of TNFRSF10B in
peripheral blood monocytes:Urinary albumin-to-creatinine ratio:PROP taste
detection threshold:Advanced age-related macular degeneration (geographic
atrophy) |
|
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 |
12875443 |
2 |
CAND2 |
G |
A |
exonic |
nonsynonymous SNV |
CAND2:NM_012298:exon13:c.G3322A:p.A1108T,CAND2:NM_001162499:exon15:c.G3673A:p.A1225T |
RS12629133 |
Gene expression of NUDT15 in
peripheral blood monocytes:Serum ratio of (hypoxanthine)/(sebacate
(decanedioate)):Advanced age-related macular degeneration:Obesity with early
age of onset (age >2):Advanced age-related macular degeneration
(geographic atrophy) |
|
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 |
13395475 |
1 |
NUP210 |
G |
C |
exonic |
nonsynonymous SNV |
NUP210:NM_024923:exon17:c.C2461G:p.P821A |
RS2280085 |
Adiponectin levels |
|
3 |
14187449 |
1 |
XPC |
G |
T |
exonic |
nonsynonymous SNV |
XPC:NM_004628:exon16:c.C2815A:p.Q939K |
RS2228001 |
Stabilized warfarin dose:Serum
creatinine:Serum concentration of 1-palmitoylglycerophosphoethanolamine |
|
3 |
16305674 |
1 |
DPH3 |
C |
G |
exonic |
synonymous SNV |
DPH3:NM_206831:exon2:c.G171C:p.V57V |
RS14080 |
Diabetic retinopathy in Type 2
diabetes mellitus:Gene expression of DPH3 (probeID ILMN_2349610) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of DPH3
(probeID ILMN_2349610) in cerebellum in Alzheimer's disease cases and controls |
|
3 |
16312564 |
1 |
OXNAD1 |
C |
T |
exonic |
synonymous SNV |
OXNAD1:NM_001330670:exon3:c.C159T:p.H53H,OXNAD1:NM_001330671:exon3:c.C159T:p.H53H,OXNAD1:NM_138381:exon3:c.C105T:p.H35H |
RS842259 |
Gene expression of MGC15763 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DESR1 in
CEU-CHB-JPT lymphoblastoid cell lines:Simpson-Angus Scale:HDL cholesterol
change with statins:Total cholesterol:Gene expression of DPH3 in peripheral
blood monocytes:Height:Serum ratio of
(1-heptadecanoylglycerophosphocholine)/(2-oleoylglycerophosphocholine*):Diabetic
retinopathy in Type 2 diabetes mellitus:Gene expression of DPH3 in normal
prepouch ileum:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of DPH3 (probeID ILMN_2349610) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of DPH3 (probeID
ILMN_2349610) in cerebellum in Alzheimer's disease cases and controls |
|
3 |
16358584 |
1 |
RFTN1 |
T |
C |
exonic |
synonymous SNV |
RFTN1:NM_015150:exon10:c.A1488G:p.S496S |
RS690241 |
Total cholesterol:HDL cholesterol
change with statins:Height:Advanced age-related macular degeneration
(geographic atrophy):Diabetic retinopathy in Type 2 diabetes mellitus:Gene
expression of DPH3 (probeID ILMN_2349610) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of DPH3 (probeID ILMN_2349610) in
cerebellum in Alzheimer's disease cases and controls |
|
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 |
25679738 |
1 |
TOP2B |
T |
C |
exonic |
synonymous SNV |
TOP2B:NM_001068:exon5:c.A444G:p.V148V,TOP2B:NM_001330700:exon5:c.A459G:p.V153V |
|
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 |
31725316 |
1 |
OSBPL10 |
G |
A |
exonic |
synonymous SNV |
OSBPL10:NM_001174060:exon7:c.C1344T:p.H448H,OSBPL10:NM_017784:exon8:c.C1536T:p.H512H |
RS2278959 |
Serum concentration of
asparagine:Parkinson's disease |
|
3 |
33138544 |
2 |
GLB1 |
A |
G |
exonic |
synonymous SNV |
GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L |
|
3 |
33434831 |
1 |
UBP1 |
G |
A |
exonic |
synonymous SNV |
UBP1:NM_001128160:exon13:c.C1398T:p.T466T,UBP1:NM_014517:exon14:c.C1506T:p.T502T,UBP1:NM_001128161:exon15:c.C1506T:p.T502T |
RS2293250 |
Triglycerides:Triglycerides change
with statins:Serum creatinine:Parkinson's disease |
|
3 |
33458266 |
1 |
UBP1 |
T |
C |
exonic |
nonsynonymous SNV |
UBP1:NM_001128160:exon3:c.A326G:p.N109S,UBP1:NM_014517:exon3:c.A326G:p.N109S,UBP1:NM_001128161:exon4:c.A326G:p.N109S |
RS3736563 |
Longstanding arthritis:Differential
exon level expression of UBP1 [probe 2668396] in brain cortex:Lp-PLA2
mass:Neuroblastoma (brain cancer):Serum ratio of
(glycochenodeoxycholate)/(glycodeoxycholate):Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):PROP taste detection
threshold:Hypertension (early onset hypertension) |
|
3 |
39111140 |
1 |
WDR48 |
C |
A |
exonic |
synonymous SNV |
WDR48:NM_001303402:exon6:c.C331A:p.R111R,WDR48:NM_001346227:exon6:c.C52A:p.R18R,WDR48:NM_001303403:exon7:c.C550A:p.R184R,WDR48:NM_001346226:exon7:c.C406A:p.R136R,WDR48:NM_001346228:exon7:c.C367A:p.R123R,WDR48:NM_020839:exon7:c.C577A:p.R193R,WDR48:NM_001346225:exon8:c.C691A:p.R231R |
RS2293312 |
Gene expression of KIAA1449 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDR48 in blood
cells in Celiac disease:Gene expression of WDR48 [probe ILMN_15679] in
osteoblasts:Gene expression of WDR48 in Temporal cortex:Gene expression of WDR48
in Cerebellum:Gene expression of WDR48 in Frontal cortex:Gene expression of
WDR48 in Caudal pons:HDL cholesterol:Gene expression of WDR48 in CD4+
lymphocytes:Gene expression of WDR48///GORASP1 in blood:Serum ratio of
(2-palmitoylglycerophosphocholine*)/(linolenate [alpha or gamma; (18:3n3 or
6)]):Gene expression of WDR48 [probeset 56919_at] in sputum:Gene expression
of WDR48 in liver:Transmission distortion:Gene expression of WDR48 (probeID
ILMN_1762103) in temporal cortex in Alzheimer's disease cases and
controls:Salmonella-induced pyroptosis:Paternal transmission distortion:Gene
expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's
disease cases and controls |
|
3 |
39184959 |
1 |
CSRNP1 |
C |
T |
exonic |
nonsynonymous SNV |
CSRNP1:NM_001320559:exon5:c.G1417A:p.V473I,CSRNP1:NM_001320560:exon5:c.G1357A:p.V453I,CSRNP1:NM_033027:exon5:c.G1357A:p.V453I |
RS1274958 |
Gene expression of KIAA1449 in
CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of WDR48 [probe
221735_at] in lymphoblastoid cell lines:Arthritis including
non-Rheumatoid:Gene expression of WDR48 in blood cells in Celiac disease:Gene
expression of WDR48 [probe ILMN_15679] in osteoblasts:Gene expression of
WDR48 in Cerebellum:Gene expression of WDR48 in Frontal cortex:Gene
expression of WDR48 in Temporal cortex:Gene expression of WDR48 in Caudal
pons:Gene expression of WDR48 in CD4+ lymphocytes:Asthma:Gene expression of
WDR48 [probe ILMN_15679] in osteoblasts treated with BMP2:Gene expression of
CX3CR1 in blood:Gene expression of WDR48///GORASP1 in blood:Gene expression
of WDR48 in liver:Gene expression of WDR48 (probeID ILMN_1762103) in temporal
cortex in Progressive Supranuclear Palsy cases:Gene expression of WDR48
(probeID ILMN_1762103) in cerebellum in non-Alzheimer's disease samples:Gene
expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in
cerebellum in Alzheimer's disease cases:Hypertension (early onset
hypertension):Gene expression of WDR48 (probeID ILMN_1762103) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of WDR48
(probeID ILMN_1762103) in temporal cortex in Alzheimer's disease
cases:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in
cerebellum in Progressive Supranuclear Palsy cases |
3 |
39185248 |
2 |
CSRNP1 |
A |
G |
exonic |
synonymous SNV |
CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S |
RS784519 |
Gene expression of WDR48 (probeID
ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's
disease cases and controls:Adiponectin levels:Gene expression of WDR48
(probeID ILMN_1762103) in whole blood |
|
3 |
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 |
44612050 |
2 |
ZKSCAN7 |
C |
T |
exonic |
nonsynonymous SNV |
ZKSCAN7:NM_001288592:exon5:c.C995T:p.T332I,ZKSCAN7:NM_001288590:exon6:c.C1448T:p.T483I,ZKSCAN7:NM_018651:exon6:c.C1448T:p.T483I |
RS9873604 |
LDL cholesterol:Alzheimer's disease
(APOE4 positive):Serum ratio of
(1-oleoylglycerophosphocholine)/(3-methoxytyrosine):Gene expression of ZNF167
(ENSG00000196345) in dendritic cells treated with Mycobacterium
tuberculosis:Mitral annular calcium |
|
3 |
44612233 |
1 |
ZKSCAN7 |
T |
C |
exonic |
nonsynonymous SNV |
ZKSCAN7:NM_001288590:exon6:c.T1631C:p.I544T,ZKSCAN7:NM_018651:exon6:c.T1631C:p.I544T |
|
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 |
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 |
45779136 |
1 |
SACM1L |
A |
T |
exonic |
nonsynonymous SNV |
SACM1L:NM_001319072:exon14:c.A1118T:p.Y373F,SACM1L:NM_014016:exon15:c.A1301T:p.Y434F,SACM1L:NM_001319073:exon16:c.A992T:p.Y331F |
RS1468542 |
Alanine/N,N-dimethylglycine
ratio:Salmonella-induced pyroptosis |
|
3 |
45996761 |
1 |
FYCO1 |
G |
A |
exonic |
synonymous SNV |
FYCO1:NM_024513:exon14:c.C3924T:p.L1308L |
RS1463680 |
Differential exon level expression
of FYCO1 [probe 2672033] in brain cortex:Gene expression of TMEM14A in
peripheral blood monocytes:Partial epilepsy:Alanine/N,N-dimethylglycine
ratio:Gene expression of CCR1 in blood:Serum ratio of (1-linoleoylglycerophosphoethanolamine*)/(dodecanedioate):Sporadic
Creutzfeldt-Jakob disease:Years of education |
|
3 |
47018214 |
2 |
CCDC12 |
T |
C |
exonic |
synonymous SNV |
CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A |
|
3 |
47449058 |
2 |
PTPN23 |
T |
C |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T |
|
3 |
47452087 |
2 |
PTPN23 |
G |
A |
exonic |
synonymous SNV |
PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P |
|
3 |
47454407 |
1 |
PTPN23 |
T |
C |
exonic |
nonsynonymous SNV |
PTPN23:NM_001304482:exon24:c.T4265C:p.L1422P,PTPN23:NM_015466:exon25:c.T4643C:p.L1548P |
|
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 |
48474249 |
1 |
CCDC51 |
A |
G |
exonic |
synonymous SNV |
CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L |
RS2279077 |
HDL cholesterol:Fasting blood
glucose:LDL cholesterol change with statins:Total cholesterol change with
statins:Parkinson's disease:Gene expression of CCDC72 in normal prepouch
ileum |
|
3 |
48476431 |
2 |
CCDC51 |
C |
G |
exonic |
synonymous SNV |
CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L |
|
3 |
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 |
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 |
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 |
52430698 |
2 |
DNAH1 |
A |
G |
exonic |
nonsynonymous SNV |
DNAH1:NM_015512:exon72:c.A11495G:p.H3832R |
|
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 |
53224002 |
2 |
PRKCD |
T |
C |
exonic |
synonymous SNV |
PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_001316327:exon18:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P |
|
3 |
53321631 |
2 |
DCP1A |
A |
C |
exonic |
synonymous SNV |
DCP1A:NM_001290207:exon8:c.T1239G:p.V413V,DCP1A:NM_001290204:exon9:c.T1602G:p.V534V,DCP1A:NM_001290206:exon9:c.T1353G:p.V451V,DCP1A:NM_018403:exon10:c.T1716G:p.V572V,DCP1A:NM_001290205:exon11:c.T1500G:p.V500V |
RS9628 |
Eye color:Fasting insulin:Total
cholesterol:Gene expression of TKT in blood:Gene expression of PRKCD in
blood:Resistance to kuru in aged women despite likely exposure:Adiponectin
levels |
|
3 |
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 |
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 |
58141791 |
1 |
FLNB |
A |
G |
exonic |
nonsynonymous SNV |
FLNB:NM_001164319:exon40:c.A6805G:p.M2269V,FLNB:NM_001164318:exon41:c.A6844G:p.M2282V,FLNB:NM_001457:exon41:c.A6877G:p.M2293V,FLNB:NM_001164317:exon42:c.A6970G:p.M2324V |
|
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 |
62229553 |
2 |
PTPRG |
C |
T |
exonic |
synonymous SNV |
PTPRG:NM_002841:exon15:c.C2448T:p.I816I |
|
3 |
66419956 |
2 |
SLC25A26 |
C |
T |
exonic |
nonsynonymous SNV |
SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_001350992:exon7:c.C359T:p.T120M,SLC25A26:NM_001350991:exon8:c.C623T:p.T208M,SLC25A26:NM_001350993:exon9:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M |
RS13874 |
Gene expression of SLC25A26 in
lymphoblastoid cell lines:Differential exon level expression of SLC25A26
[probe 2628112] in peripheral blood mononuclear cells:Differential exon level
expression of SLC25A26 [probe 2628122] in peripheral blood mononuclear cells:Height:Waist
hip ratio:Gene expression of SLC25A26 in blood:Gene expression of SLC25A26
(probeID ILMN_1777976) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SLC25A26 (probeID ILMN_1777976) in cerebellum in
Alzheimer's disease cases and controls:Advanced age-related macular
degeneration (geographic atrophy):Gene expression of SLC25A26 in normal
prepouch ileum |
|
3 |
66433676 |
2 |
LRIG1 |
A |
G |
exonic |
synonymous SNV |
LRIG1:NM_015541:exon15:c.T2221C:p.L741L |
RS900171 |
Height:Waist hip ratio |
|
3 |
75788158 |
2 |
ZNF717 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF717:NM_001128223:exon5:c.C616G:p.L206V,ZNF717:NM_001290208:exon5:c.C616G:p.L206V,ZNF717:NM_001290209:exon5:c.C466G:p.L156V,ZNF717:NM_001324027:exon5:c.C616G:p.L206V |
RS3009004 |
LDL cholesterol |
|
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 |
81643167 |
2 |
GBE1 |
T |
C |
exonic |
nonsynonymous SNV |
GBE1:NM_000158:exon8:c.A1000G:p.I334V |
RS2172397 |
Triglycerides change with
statins:Triglycerides |
|
3 |
100084432 |
1 |
TOMM70 |
G |
A |
exonic |
synonymous SNV |
TOMM70:NM_014820:exon12:c.C1803T:p.Y601Y |
|
3 |
100467018 |
1 |
TFG |
T |
C |
exonic |
synonymous SNV |
TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P |
RS11353 |
Sporadic Creutzfeldt-Jakob
disease:Gene expression of TFG (probeID ILMN_2341815) in cerebellum in
Alzheimer's disease cases and controls:Hypertension (early onset
hypertension):Gene expression of TFG (probeID ILMN_2341815) in temporal
cortex in Alzheimer's disease cases and controls |
|
3 |
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 |
112727184 |
1 |
NEPRO |
A |
T |
exonic |
nonsynonymous SNV |
NEPRO:NM_001319110:exon5:c.T568A:p.F190I,NEPRO:NM_001319109:exon6:c.T859A:p.F287I,NEPRO:NM_001319111:exon7:c.T460A:p.F154I,NEPRO:NM_001319112:exon7:c.T736A:p.F246I,NEPRO:NM_001319114:exon7:c.T661A:p.F221I,NEPRO:NM_001319115:exon7:c.T778A:p.F260I,NEPRO:NM_015412:exon8:c.T1069A:p.F357I |
RS2306857 |
Serum creatinine:Waist hip ratio |
|
3 |
113022870 |
2 |
CFAP44 |
T |
C |
exonic |
nonsynonymous SNV |
CFAP44:NM_001164496:exon32:c.A4970G:p.H1657R |
RS4682484 |
Fasting blood glucose |
|
3 |
113373930 |
2 |
USF3 |
A |
G |
exonic |
nonsynonymous SNV |
USF3:NM_001009899:exon7:c.T6599C:p.V2200A |
|
3 |
118604436 |
2 |
|
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 |
121563355 |
1 |
EAF2 |
T |
C |
exonic |
synonymous SNV |
EAF2:NM_018456:exon2:c.T162C:p.G54G |
RS9884018 |
Gene expression of IQCB1 [probe
205995_x_at] in lymphoblastoid cell lines:Gene expression of GOLGB1 in blood
cells in Celiac disease:Gene expression of GOLGB1 [probe ILMN_1500] in
osteoblasts:Gene expression of IQCB1 in CD4+ lymphocytes:Gene expression of
IQCB1 in blood:Gene expression of GOLGB1 in blood:Serum concentration of
3-dehydrocarnitine*:Sporadic Creutzfeldt-Jakob disease:Gene expression of
GOLGB1 in liver:Gene expression of GOLGB1 (probeID ILMN_1747935) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of GOLGB1
(probeID ILMN_1747935) in cerebellum in Alzheimer's disease cases and
controls |
|
3 |
122186188 |
2 |
KPNA1 |
C |
T |
exonic |
nonsynonymous SNV |
KPNA1:NM_002264:exon3:c.G218A:p.S73N |
|
3 |
123457893 |
2 |
MYLK |
G |
A |
exonic |
nonsynonymous SNV |
MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S |
|
3 |
124728626 |
1 |
HEG1 |
A |
G |
exonic |
nonsynonymous SNV |
HEG1:NM_020733:exon8:c.T3116C:p.M1039T |
RS6438869 |
Gene expression of MUC13 in blood
cells in Celiac disease:Schizophrenia:Total cholesterol:Obsessive-compulsive
disorder (OCD) |
|
3 |
124731485 |
1 |
HEG1 |
C |
G |
exonic |
nonsynonymous SNV |
HEG1:NM_020733:exon6:c.G2938C:p.V980L |
RS10804567 |
Rheumatoid
arthritis:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
3 |
124739892 |
1 |
HEG1 |
G |
A |
exonic |
synonymous SNV |
HEG1:NM_020733:exon4:c.C996T:p.A332A |
RS6438874 |
Urinary albumin-to-creatinine
ratio: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 |
124837684 |
2 |
SLC12A8 |
T |
C |
exonic |
nonsynonymous SNV |
SLC12A8:NM_001195483:exon7:c.A841G:p.I281V,SLC12A8:NM_024628:exon8:c.A841G:p.I281V |
|
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 |
126194357 |
2 |
ZXDC |
G |
C |
exonic |
nonsynonymous SNV |
ZXDC:NM_001040653:exon1:c.C352G:p.P118A,ZXDC:NM_025112:exon1:c.C352G:p.P118A |
|
3 |
127323830 |
1 |
MCM2 |
C |
T |
exonic |
synonymous SNV |
MCM2:NM_004526:exon4:c.C504T:p.I168I |
RS893293 |
HOMA-B:Gene expression of GPR175 in
peripheral blood monocytes:Gene expression of ABTB1 in peripheral blood
monocytes:Gene expression of ABTB1 (ENSG00000114626) in dendritic cells
treated with Mycobacterium tuberculosis |
|
3 |
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 |
128356852 |
2 |
RPN1 |
C |
T |
exonic |
synonymous SNV |
RPN1:NM_002950:exon3:c.G423A:p.P141P |
|
3 |
129214358 |
1 |
IFT122 |
T |
C |
exonic |
nonsynonymous SNV |
IFT122:NM_052990:exon15:c.T1783C:p.F595L,IFT122:NM_001280546:exon16:c.T1489C:p.F497L,IFT122:NM_018262:exon17:c.T1939C:p.F647L,IFT122:NM_001280541:exon18:c.T2092C:p.F698L,IFT122:NM_052989:exon18:c.T2116C:p.F706L,IFT122:NM_001280545:exon19:c.T1666C:p.F556L,IFT122:NM_052985:exon19:c.T2269C:p.F757L |
|
3 |
129281980 |
2 |
PLXND1 |
C |
T |
exonic |
nonsynonymous SNV |
PLXND1:NM_015103:exon26:c.G4625A:p.S1542N |
|
3 |
129283520 |
2 |
|
3 |
129324193 |
2 |
PLXND1 |
A |
G |
exonic |
synonymous SNV |
PLXND1:NM_015103:exon1:c.T1290C:p.C430C |
|
3 |
130947435 |
2 |
NEK11 |
A |
T |
exonic |
nonsynonymous SNV |
NEK11:NM_001321222:exon11:c.A1148T:p.E383V,NEK11:NM_001321224:exon12:c.A911T:p.E304V,NEK11:NM_001146003:exon14:c.A1463T:p.E488V,NEK11:NM_001321220:exon14:c.A1463T:p.E488V,NEK11:NM_024800:exon15:c.A1463T:p.E488V,NEK11:NM_001321221:exon16:c.A1589T:p.E530V |
RS3738000 |
HOMA-IR:Fasting insulin:Urinary
albumin-to-creatinine ratio:Bipolar disorder in alcoholics |
|
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 |
134077470 |
2 |
AMOTL2 |
C |
G |
exonic |
nonsynonymous SNV |
AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D |
RS1353776 |
Height:Body mass index
(BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education |
|
3 |
136573440 |
2 |
SLC35G2 |
A |
G |
exonic |
synonymous SNV |
SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G |
RS9827648 |
Gene expression of probe 228799_at
in lymphoblastoid cell lines:HDL cholesterol:Height:Body mass index
(BMI):Birth weight |
|
3 |
136574501 |
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 |
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 |
149093238 |
2 |
TM4SF1 |
A |
G |
exonic |
synonymous SNV |
TM4SF1:NM_014220:exon3:c.T405C:p.T135T |
|
3 |
149459341 |
2 |
COMMD2 |
A |
G |
exonic |
synonymous SNV |
COMMD2:NM_016094:exon5:c.T567C:p.N189N |
|
3 |
149459413 |
2 |
COMMD2 |
C |
T |
exonic |
synonymous SNV |
COMMD2:NM_016094:exon5:c.G495A:p.L165L |
RS11549572 |
Gene expression of COMMD2 (probeID
ILMN_1683305) in temporal cortex in Alzheimer's disease cases and
controls:Adiponectin levels:Gene expression of COMMD2 (probeID ILMN_1683305)
in cerebellum in Alzheimer's disease cases and controls |
|
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 |
153839960 |
2 |
ARHGEF26 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P |
|
3 |
153994596 |
2 |
|
3 |
170078232 |
2 |
SKIL |
C |
T |
exonic |
nonsynonymous SNV |
SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V |
RS3772173 |
HDL cholesterol change with
statins:Chronic kidney disease:Serum creatinine:HDL cholesterol:Triglycerides |
|
3 |
170825905 |
2 |
TNIK |
C |
G |
exonic |
synonymous SNV |
TNIK:NM_001161565:exon18:c.G2079C:p.A693A,TNIK:NM_001161566:exon18:c.G2079C:p.A693A,TNIK:NM_001161561:exon19:c.G2244C:p.A748A,TNIK:NM_001161562:exon19:c.G2244C:p.A748A,TNIK:NM_001161563:exon19:c.G2166C:p.A722A,TNIK:NM_001161564:exon19:c.G2166C:p.A722A,TNIK:NM_001161560:exon20:c.G2331C:p.A777A,TNIK:NM_015028:exon20:c.G2331C:p.A777A |
|
3 |
179096508 |
2 |
MFN1 |
C |
G |
exonic |
nonsynonymous SNV |
MFN1:NM_033540:exon14:c.C1568G:p.P523R |
|
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 |
182871962 |
2 |
LAMP3 |
C |
T |
exonic |
synonymous SNV |
LAMP3:NM_014398:exon2:c.G267A:p.A89A |
|
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 |
184039666 |
2 |
EIF4G1 |
A |
G |
exonic |
nonsynonymous SNV |
EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_001291157:exon10:c.A1174G:p.M392V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V |
RS2178403 |
Total
cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Neuroblastoma
(brain cancer):Gene expression of AP2M1 in blood:Gene expression of [probe
450403 centered at chr3:185509257] in blood:Gene expression of VWA5B2///ALG3
in blood:Parkinson's disease:Mitral annular calcium:Primary rhegmatogenous
retinal detachment |
|
3 |
184647413 |
2 |
VPS8 |
T |
C |
exonic |
synonymous SNV |
VPS8:NM_001349296:exon31:c.T2721C:p.D907D,VPS8:NM_001009921:exon32:c.T2760C:p.D920D,VPS8:NM_001349293:exon32:c.T2760C:p.D920D,VPS8:NM_001349294:exon32:c.T2760C:p.D920D,VPS8:NM_001349295:exon32:c.T2760C:p.D920D,VPS8:NM_001349297:exon32:c.T1041C:p.D347D,VPS8:NM_015303:exon32:c.T2754C:p.D918D,VPS8:NM_001349292:exon33:c.T2760C:p.D920D,VPS8:NM_001349298:exon33:c.T960C:p.D320D |
RS4643688 |
Triglycerides |
|
3 |
186338382 |
2 |
AHSG |
G |
C |
exonic |
nonsynonymous SNV |
AHSG:NM_001622:exon7:c.G767C:p.S256T |
RS4918 |
2 hour glucose:Activated partial
thromboplastin time:Adiponectin levels:Obesity with early age of onset (age
>2):P02765 protein abundance levels |
|
3 |
186338425 |
2 |
AHSG |
A |
C |
exonic |
synonymous SNV |
AHSG:NM_001622:exon7:c.A810C:p.T270T |
RS1071592 |
HDL cholesterol change with
statins:P02765 protein abundance levels:Activated partial thromboplastin
time:Adiponectin levels:Infant head circumference |
|
3 |
186509517 |
2 |
RFC4 |
G |
A |
exonic |
synonymous SNV |
RFC4:NM_002916:exon8:c.C798T:p.A266A,RFC4:NM_181573:exon8:c.C798T:p.A266A |
RS187868 |
Adiponectin levels
(female):Activated partial thromboplastin time:Adiponectin levels
(male):Obesity with early age of onset (age >2):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 |
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 |
|
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 |
860192 |
2 |
GAK |
A |
G |
exonic |
synonymous SNV |
GAK:NM_001318134:exon19:c.T2766C:p.S922S,GAK:NM_005255:exon22:c.T3003C:p.S1001S |
RS1064207 |
Triglycerides:Triglycerides:Parkinson's
disease |
|
4 |
946226 |
2 |
TMEM175 |
T |
C |
exonic |
synonymous SNV |
TMEM175:NM_001297424:exon5:c.T204C:p.I68I,TMEM175:NM_001297425:exon5:c.T204C:p.I68I,TMEM175:NM_001297428:exon5:c.T102C:p.I34I,TMEM175:NM_001297423:exon7:c.T204C:p.I68I,TMEM175:NM_001297427:exon7:c.T102C:p.I34I,TMEM175:NM_032326:exon7:c.T450C:p.I150I,TMEM175:NM_001297426:exon8:c.T102C:p.I34I |
|
4 |
980971 |
2 |
IDUA |
T |
G |
exonic |
nonsynonymous SNV |
IDUA:NM_000203:exon1:c.T99G:p.H33Q |
|
4 |
1330759 |
1 |
MAEA |
T |
C |
exonic |
nonsynonymous SNV |
MAEA:NM_001297431:exon5:c.T676C:p.W226R |
|
4 |
1807894 |
2 |
FGFR3 |
G |
A |
exonic |
synonymous SNV |
FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T |
|
4 |
1818594 |
2 |
LETM1 |
C |
T |
exonic |
synonymous SNV |
LETM1:NM_012318:exon12:c.G1791A:p.K597K |
|
4 |
2044128 |
2 |
C4orf48 |
C |
T |
exonic |
nonsynonymous SNV |
C4orf48:NM_001141936:exon2:c.C50T:p.P17L,C4orf48:NM_001168243:exon2:c.C149T:p.P50L |
|
4 |
2181080 |
2 |
POLN |
T |
C |
exonic |
synonymous SNV |
POLN:NM_181808:exon8:c.A1134G:p.T378T |
RS6830513 |
Irritible bowel syndrome:Chronic
kidney disease:Height:Body mass index (BMI):Gene expression of AL132868.24 in
blood:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Infant
head circumference:Tetrology of fallot:Personality disorders (PD) - Cluster C |
|
4 |
2743999 |
2 |
TNIP2 |
A |
G |
exonic |
synonymous SNV |
TNIP2:NM_001292016:exon5:c.T1026C:p.A342A,TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A |
RS232712 |
LDL
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's
disease:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG |
|
4 |
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 |
3219613 |
2 |
HTT |
A |
C |
exonic |
synonymous SNV |
HTT:NM_002111:exon52:c.A7176C:p.L2392L |
|
4 |
3227419 |
1 |
HTT |
A |
G |
exonic |
synonymous SNV |
HTT:NM_002111:exon57:c.A7797G:p.L2599L |
RS362273 |
Serum creatinine:Total
cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol
dependence:Years of education:Major depressive disorder and bipolar disorder
combined analysis:College completion:Major depressive disorder:Obesity with
early age of onset (age >2) |
|
4 |
3318413 |
2 |
RGS12 |
A |
G |
exonic |
synonymous SNV |
RGS12:NM_002926:exon2:c.A516G:p.S172S,RGS12:NM_198229:exon2:c.A516G:p.S172S |
RS2236052 |
LDL
cholesterol:Triglycerides:Fasting blood glucose:Gene expression of ADD1 in
peripheral blood monocytes:Gene expression of EVI5 in peripheral blood
monocytes:LDL cholesterol:Total cholesterol:Triglycerides:Height:Myocardial
infarction (MI):College completion:Gene expression of RGS12 in normal
prepouch ileum:Years of education:Advanced age-related macular degeneration
(geographic atrophy) |
|
4 |
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 |
4304337 |
1 |
ZBTB49 |
C |
T |
exonic |
synonymous SNV |
ZBTB49:NM_001330625:exon3:c.C774T:p.A258A,ZBTB49:NM_145291:exon3:c.C774T:p.A258A |
|
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 |
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 |
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 |
9982330 |
2 |
SLC2A9 |
A |
G |
exonic |
synonymous SNV |
SLC2A9:NM_020041:exon5:c.T567C:p.L189L,SLC2A9:NM_001001290:exon6:c.T480C:p.L160L |
RS13125646 |
Uric acid:HDL cholesterol:Serum
urate:Gout:Comorbid depressive syndrome and alcohol dependence:Serum
urate:Gout |
|
4 |
9998493 |
2 |
SLC2A9 |
A |
G |
exonic |
synonymous SNV |
SLC2A9:NM_020041:exon3:c.T322C:p.L108L,SLC2A9:NM_001001290:exon4:c.T235C:p.L79L |
RS13113918 |
Uric acid:Serum urate:Gout:Uric
acid in serum:Uric acid (females) in serum:Serum urate:Serum urate:Gout |
|
4 |
15690233 |
2 |
FAM200B |
C |
A |
exonic |
nonsynonymous SNV |
FAM200B:NM_001145191:exon2:c.C1633A:p.H545N |
RS6449160 |
Serum creatinine |
|
4 |
17586703 |
2 |
LAP3 |
T |
C |
exonic |
synonymous SNV |
LAP3:NM_015907:exon6:c.T648C:p.A216A |
RS3733576 |
Gene expression of probe 235105_at
in lymphoblastoid cell lines:Gene expression of MED28 [probe 222636_at] in
lymphoblastoid cell lines:Gene expression of FAM184B [probe 233823_at] in
lymphoblastoid cell lines:Gene expression of MED28 [probe 228992_at] in
lymphoblastoid cell lines:Gene expression of LAP3 [probe 217933_s_at] in
lymphoblastoid cell lines:Gene expression of probe 227504_s_at in
lymphoblastoid cell lines:Gene expression of MED28 [probe 222635_s_at] in
lymphoblastoid cell lines:Gene expression of probe 227505_at in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235105_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[233823_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235288_at] in
lymphoblastoid cell lines:Gene expression of LAP3 probe[217933_s_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227504_s_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[228992_at] in
lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227505_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[222635_s_at] in
lymphoblastoid cell lines:Gene expression of MED28 probe[222636_at] in
lymphoblastoid cell lines:Gene expression of LAP3 in lymphoblastoid cell
lines:Gene expression of KIAA1276 in lymphoblastoid cell lines:Serum
creatinine:Height |
|
4 |
17634213 |
2 |
FAM184B |
A |
G |
exonic |
nonsynonymous SNV |
FAM184B:NM_015688:exon18:c.T3125C:p.V1042A |
|
4 |
25253995 |
1 |
PI4K2B |
C |
T |
exonic |
synonymous SNV |
PI4K2B:NM_018323:exon2:c.C321T:p.A107A |
RS313567 |
Triglycerides |
|
4 |
25363901 |
2 |
ZCCHC4 |
T |
A |
exonic |
nonsynonymous SNV |
ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H |
RS315675 |
HDL cholesterol:Cystatin C in
serum:Methylation levels at chr4:24987356-24987406 [hg18 coord, probe
cg13918811] in Frontal cortex:Refractive error:Advanced age-related macular
degeneration (geographic atrophy) |
|
4 |
25419283 |
1 |
ANAPC4 |
T |
C |
exonic |
synonymous SNV |
ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F |
RS9174 |
Cystatin C in serum:Body mass index
(BMI):PROP taste detection threshold:College completion:Aortic valve
calcium:Advanced age-related macular degeneration:Gene expression of ANAPC4
in normal prepouch ileum |
|
4 |
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 |
53751932 |
1 |
SCFD2 |
C |
T |
exonic |
synonymous SNV |
SCFD2:NM_152540:exon8:c.G1944A:p.S648S |
RS2306600 |
Hip bone mineral density (BMD):HDL
cholesterol:Differential exon level expression of SCFD2 [probe 2769192] in
peripheral blood mononuclear cells:Rheumatoid arthritis:Cystatin C in
serum:HDL cholesterol:Triglycerides:Microalbuminuria:PROP taste detection threshold:Obesity
with early age of onset (age >2):Paternal transmission distortion:Mitral
annular calcium |
|
4 |
55141055 |
2 |
PDGFRA |
A |
G |
exonic |
synonymous SNV |
PDGFRA:NM_001347827:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347829:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347830:exon12:c.A1740G:p.P580P,PDGFRA:NM_006206:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347828:exon13:c.A1776G:p.P592P |
RS1873778 |
Abnormal Involuntary Movement
Scale:Simpson-Angus Scale:Triglycerides change with statins:HDL cholesterol
change with statins:HDL cholesterol |
|
4 |
55161391 |
2 |
PDGFRA |
T |
C |
exonic |
synonymous SNV |
PDGFRA:NM_001347829:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347830:exon23:c.T3261C:p.D1087D,PDGFRA:NM_006206:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347828:exon24:c.T3297C:p.D1099D |
|
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 |
57181632 |
2 |
KIAA1211 |
G |
C |
exonic |
nonsynonymous SNV |
KIAA1211:NM_020722:exon8:c.G1964C:p.R655P |
|
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 |
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 |
77660162 |
2 |
SHROOM3 |
G |
C |
exonic |
nonsynonymous SNV |
SHROOM3:NM_020859:exon5:c.G836C:p.G279A |
RS344140 |
Serum creatinine:Refractive
error:Years of education |
|
4 |
77675505 |
2 |
SHROOM3 |
C |
T |
exonic |
nonsynonymous SNV |
SHROOM3:NM_020859:exon7:c.C3869T:p.P1290L |
RS3733242 |
Amyotrophic lateral sclerosis
(ALS):Longstanding arthritis:Arthritis including non-Rheumatoid:Amyotrophic
lateral sclerosis (ALS):Sporadic amyotrophic lateral sclerosis (ALS):Serum
concentration of mannitol:Sporadic Creutzfeldt-Jakob disease:Hypertension
(early onset hypertension):Refractive error:Primary rhegmatogenous retinal
detachment |
|
4 |
79240063 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_001166133:exon18:c.A2060G:p.D687G,FRAS1:NM_025074:exon18:c.A2060G:p.D687G |
RS345513 |
Longstanding arthritis:Serum
creatinine:Cystatin C in serum:Autism with low IQ:Microalbuminuria |
|
4 |
79387464 |
2 |
FRAS1 |
A |
G |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon50:c.A7132G:p.K2378E |
RS7684722 |
Tardive dyskinesia |
|
4 |
79432455 |
2 |
FRAS1 |
A |
C |
exonic |
synonymous SNV |
FRAS1:NM_025074:exon64:c.A9808C:p.R3270R |
RS3749488 |
2 hour glucose:Serum ratio of
(1-palmitoylglycerol (1-monopalmitin))/(glutaroyl carnitine):College
completion:Tetrology of fallot |
|
4 |
79443850 |
2 |
FRAS1 |
G |
A |
exonic |
nonsynonymous SNV |
FRAS1:NM_025074:exon69:c.G10696A:p.V3566I |
RS931606 |
2 hour glucose:Gene expression of
[probe 1230148 centered at chr4:79821519] in blood:Serum concentration of
gamma-glutamylisoleucine*:Age at death with kuru exposure:College completion |
|
4 |
83788344 |
2 |
SEC31A |
A |
T |
exonic |
synonymous SNV |
SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G |
|
4 |
83838217 |
2 |
THAP9 |
G |
A |
exonic |
nonsynonymous SNV |
THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I |
|
4 |
83839799 |
2 |
THAP9 |
A |
G |
exonic |
nonsynonymous SNV |
THAP9:NM_024672:exon5:c.A2434G:p.N812D,THAP9:NM_001317776:exon6:c.A2002G:p.N668D |
|
4 |
83900043 |
2 |
LIN54 |
A |
G |
exonic |
synonymous SNV |
LIN54:NM_001115007:exon3:c.T138C:p.V46V,LIN54:NM_001115008:exon3:c.T138C:p.V46V,LIN54:NM_001288997:exon3:c.T138C:p.V46V,LIN54:NM_194282:exon3:c.T801C:p.V267V |
|
4 |
84230619 |
2 |
HPSE |
T |
C |
exonic |
nonsynonymous SNV |
HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R,HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R |
RS11099592 |
Abnormal Involuntary Movement
Scale:Triglycerides change with statins:Total cholesterol change with
statins:Gene expression of HPSE in peripheral blood monocytes:LDL
cholesterol:Postoperative nausea and vomiting:Gene expression of [probe
520162 centered at chr4:84433119] in blood:Sporadic Creutzfeldt-Jakob
disease:Resistance to kuru in aged women despite likely exposure:Transmission
distortion |
|
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 |
88902692 |
1 |
SPP1 |
T |
C |
exonic |
synonymous SNV |
SPP1:NM_001251829:exon4:c.T159C:p.D53D,SPP1:NM_000582:exon5:c.T240C:p.D80D,SPP1:NM_001040060:exon5:c.T201C:p.D67D,SPP1:NM_001040058:exon6:c.T282C:p.D94D,SPP1:NM_001251830:exon7:c.T321C:p.D107D |
RS4754 |
Serum creatinine:Triglycerides:Serum
concentration of lysine |
|
4 |
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 |
90169925 |
2 |
GPRIN3 |
A |
G |
exonic |
nonsynonymous SNV |
GPRIN3:NM_198281:exon2:c.T1337C:p.V446A |
RS7653897 |
Major depressive disorder (broad
definition):Major depressive disorder (broad definition) (females):Major
depressive disorder (broad definition) (males):Major depressive disorder
(narrow definition):Major depressive disorder (narrow definition) (females):Major
depressive disorder (narrow definition) (males):Fasting blood
glucose:HOMA-B:LDL cholesterol change with statins:Total cholesterol:Waist
hip ratio:Transmission distortion:Maternal transmission distortion |
|
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 |
100052733 |
2 |
ADH4 |
C |
A |
exonic |
synonymous SNV |
ADH4:NM_000670:exon6:c.G765T:p.P255P,ADH4:NM_001306171:exon7:c.G822T:p.P274P,ADH4:NM_001306172:exon7:c.G822T:p.P274P |
RS1126670 |
Schizophrenia:HOMA-IR:Fasting
insulin:HOMA-B:FVII in plasma:Total cholesterol:LDL
cholesterol:Triglycerides:HDL cholesterol:Serum ratio of
(3-methylhistidine)/(bilirubin (E,E)*):Birth weight |
|
4 |
100510859 |
2 |
MTTP |
T |
C |
exonic |
synonymous SNV |
MTTP:NM_001300785:exon4:c.T534C:p.G178G,MTTP:NM_000253:exon5:c.T453C:p.G151G |
RS991811 |
Gene expression of ZNF268 in
liver:Gene expression of BC033397 in liver:Gene expression of PKN2 in
liver:Gene expression of DNAJB14 in liver:Premature ovarian failure:LDL
cholesterol:Total cholesterol:HDL cholesterol:Serum concentration of
stachydrine:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset
hypertension) |
|
4 |
100516022 |
2 |
MTTP |
C |
G |
exonic |
nonsynonymous SNV |
MTTP:NM_001300785:exon7:c.C972G:p.H324Q,MTTP:NM_000253:exon8:c.C891G:p.H297Q |
RS2306985 |
LDL cholesterol:Total
cholesterol:Lp-PLA2 activity:HDL cholesterol |
|
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 |
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 |
110603784 |
2 |
MCUB |
T |
C |
exonic |
synonymous SNV |
MCUB:NM_017918:exon5:c.T498C:p.S166S |
RS3733611 |
Total cholesterol:HDL
cholesterol:Type 2 diabetes:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Gene expression of CASP6 (probeID
ILMN_1694877) in cerebellum in Alzheimer's disease cases and
controls:Advanced age-related macular degeneration:Gene expression of
PLA2G12A in normal prepouch ileum:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of CASP6 (probeID ILMN_1694877) in
temporal cortex in Alzheimer's disease cases and controls |
|
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 |
115544714 |
2 |
UGT8 |
A |
G |
exonic |
synonymous SNV |
UGT8:NM_003360:exon1:c.A678G:p.P226P,UGT8:NM_001128174:exon2:c.A678G:p.P226P,UGT8:NM_001322113:exon2:c.A678G:p.P226P,UGT8:NM_001322114:exon2:c.A678G:p.P226P,UGT8:NM_001322112:exon3:c.A678G:p.P226P |
|
4 |
115589302 |
2 |
UGT8 |
A |
G |
exonic |
nonsynonymous SNV |
UGT8:NM_003360:exon4:c.A1104G:p.I368M,UGT8:NM_001128174:exon5:c.A1104G:p.I368M,UGT8:NM_001322113:exon5:c.A1104G:p.I368M,UGT8:NM_001322114:exon5:c.A1104G:p.I368M,UGT8:NM_001322112:exon6:c.A1104G:p.I368M |
|
4 |
119678889 |
1 |
SEC24D |
C |
T |
exonic |
nonsynonymous SNV |
SEC24D:NM_001318066:exon11:c.G1411A:p.E471K,SEC24D:NM_014822:exon11:c.G1408A:p.E470K |
|
4 |
122742217 |
2 |
CCNA2 |
T |
C |
exonic |
nonsynonymous SNV |
CCNA2:NM_001237:exon3:c.A487G:p.I163V |
RS769242 |
Triglycerides |
|
4 |
123838758 |
2 |
NUDT6 |
A |
G |
exonic |
nonsynonymous SNV |
NUDT6:NM_007083:exon2:c.T340C:p.C114R |
RS12648093 |
Arthritis including
non-Rheumatoid:Asthma:Serum ratio of
(gamma-glutamylthreonine*)/(oleoylcarnitine):Gene expression of NUDT6
(ENSG00000170917) in dendritic cells |
|
4 |
123843716 |
2 |
NUDT6 |
T |
C |
exonic |
synonymous SNV |
NUDT6:NM_007083:exon1:c.A12G:p.P4P |
RS13134412 |
Total cholesterol:LDL
cholesterol:Rheumatoid arthritis:Height |
|
4 |
126373789 |
2 |
FAT4 |
G |
A |
exonic |
nonsynonymous SNV |
FAT4:NM_001291285:exon9:c.G11624A:p.S3875N,FAT4:NM_001291303:exon9:c.G11624A:p.S3875N,FAT4:NM_024582:exon9:c.G11618A:p.S3873N |
|
4 |
128723042 |
2 |
HSPA4L |
T |
C |
exonic |
nonsynonymous SNV |
HSPA4L:NM_001317383:exon5:c.T509C:p.L170S,HSPA4L:NM_001317382:exon6:c.T554C:p.L185S,HSPA4L:NM_014278:exon6:c.T632C:p.L211S,HSPA4L:NM_001317381:exon7:c.T725C:p.L242S |
RS1380154 |
Celiac disease:Schizophrenia:Barnes
Akathisia Rating Scale:2 hour glucose:Triglycerides:Serum concentration of
scyllo-inositol:Comorbid depressive syndrome and alcohol dependence:Age at
death with kuru exposure:Advanced age-related macular degeneration:Advanced
age-related macular degeneration (geographic atrophy):Infant head
circumference:Gene expression change of HSPA4L (ENSG00000164070) in dendritic
cells after treatment with Mycobacterium tuberculosis:Endometriosis |
|
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 |
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 |
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 |
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 |
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 |
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 |
169341435 |
2 |
DDX60L |
A |
G |
exonic |
nonsynonymous SNV |
DDX60L:NM_001012967:exon18:c.T2491C:p.C831R,DDX60L:NM_001291510:exon18:c.T2491C:p.C831R,DDX60L:NM_001345927:exon18:c.T2491C:p.C831R |
|
4 |
169369853 |
2 |
DDX60L |
A |
T |
exonic |
synonymous SNV |
DDX60L:NM_001012967:exon9:c.T1074A:p.S358S,DDX60L:NM_001291510:exon9:c.T1074A:p.S358S,DDX60L:NM_001345927:exon9:c.T1074A:p.S358S |
RS2712114 |
Refractive error |
|
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 |
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 |
184600601 |
2 |
TRAPPC11 |
A |
G |
exonic |
synonymous SNV |
TRAPPC11:NM_021942:exon9:c.A927G:p.A309A,TRAPPC11:NM_199053:exon9:c.A927G:p.A309A |
RS4241779 |
Fasting blood glucose:Fasting
insulin:HOMA-IR:Cystatin C in serum:Microalbuminuria |
|
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 |
187077206 |
2 |
FAM149A |
A |
G |
exonic |
nonsynonymous SNV |
FAM149A:NM_001006655:exon7:c.A436G:p.K146E,FAM149A:NM_001350178:exon7:c.A436G:p.K146E,FAM149A:NM_001350179:exon7:c.A436G:p.K146E,FAM149A:NM_015398:exon7:c.A436G:p.K146E |
RS4862653 |
Triglycerides:Serum ratio of
(docosapentaenoate (n3 DPA; 22:5n3))/(indolepropionate):Variant
Creutzfeldt-Jakob disease |
|
4 |
187519206 |
2 |
FAT1 |
C |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon23:c.G12177C:p.K4059N |
|
4 |
187531022 |
2 |
FAT1 |
A |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon15:c.T10001C:p.V3334A |
RS28647489 |
Birth weight |
|
4 |
187534363 |
2 |
FAT1 |
G |
A |
exonic |
synonymous SNV |
FAT1:NM_005245:exon13:c.C9363T:p.N3121N |
RS2249916 |
Body mass index (BMI):Advanced
age-related macular degeneration (geographic atrophy) |
|
4 |
187538942 |
2 |
FAT1 |
T |
G |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon10:c.A8798C:p.Q2933P |
|
4 |
187542755 |
2 |
FAT1 |
T |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon10:c.A4985G:p.N1662S |
|
4 |
187557893 |
2 |
FAT1 |
T |
C |
exonic |
nonsynonymous SNV |
FAT1:NM_005245:exon5:c.A3818G:p.H1273R |
RS328418 |
Celiac disease:Irritible bowel
syndrome:Triglycerides change with statins:Gene expression of TEAD3 in
peripheral blood monocytes:Serum concentration of pro-hydroxy-pro:Advanced
age-related macular degeneration (geographic atrophy) |
|
4 |
190864371 |
1 |
FRG1 |
G |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon2:c.G77A:p.S26N |
|
4 |
190876204 |
1 |
FRG1 |
G |
A |
exonic |
synonymous SNV |
FRG1:NM_004477:exon5:c.G330A:p.K110K |
|
4 |
190876242 |
1 |
FRG1 |
G |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.G368A:p.G123E |
|
4 |
190876301 |
1 |
FRG1 |
C |
A |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.C427A:p.Q143K |
|
4 |
190876305 |
1 |
FRG1 |
A |
T |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon5:c.A431T:p.N144I |
|
4 |
190883001 |
1 |
FRG1 |
C |
G |
exonic |
nonsynonymous SNV |
FRG1:NM_004477:exon8:c.C654G:p.D218E |
|
5 |
311478 |
1 |
PDCD6 |
T |
C |
exonic |
synonymous SNV |
PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I |
RS2244029 |
HDL cholesterol:Total cholesterol |
|
5 |
1063998 |
1 |
SLC12A7 |
G |
A |
exonic |
synonymous SNV |
SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y |
RS7722287 |
Serum creatinine:Birth weight |
|
5 |
1466919 |
1 |
LPCAT1 |
G |
A |
exonic |
synonymous SNV |
LPCAT1:NM_024830:exon13:c.C1365T:p.T455T |
|
5 |
5460569 |
1 |
ICE1 |
C |
T |
exonic |
synonymous SNV |
ICE1:NM_015325:exon13:c.C1122T:p.Y374Y |
RS2578565 |
Total cholesterol:Height:Parkinson's
disease |
|
5 |
5460619 |
1 |
ICE1 |
G |
C |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.G1172C:p.C391S |
RS2619844 |
Total cholesterol:Height:Parkinson's
disease |
|
5 |
5462148 |
1 |
ICE1 |
G |
A |
exonic |
nonsynonymous SNV |
ICE1:NM_015325:exon13:c.G2701A:p.V901I |
RS2578500 |
Total
cholesterol:Height:Parkinson's disease:Gene expression of KIAA0947
(ENSG00000164151) in dendritic cells |
|
5 |
6600150 |
1 |
NSUN2 |
G |
A |
exonic |
synonymous SNV |
NSUN2:NM_001193455:exon18:c.C2088T:p.D696D,NSUN2:NM_017755:exon19:c.C2193T:p.D731D |
RS3822434 |
HOMA-IR:Waist hip ratio:Body mass
index (BMI) |
|
5 |
14420027 |
2 |
TRIO |
A |
C |
exonic |
synonymous SNV |
TRIO:NM_007118:exon34:c.A5100C:p.T1700T |
RS30612 |
Fasting blood glucose:LDL
cholesterol:Total cholesterol:Total cholesterol change with statins:Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Aortic valve calcium |
|
5 |
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 |
21975460 |
2 |
CDH12 |
A |
G |
exonic |
nonsynonymous SNV |
CDH12:NM_001317227:exon3:c.T266C:p.V89A,CDH12:NM_001317228:exon4:c.T266C:p.V89A,CDH12:NM_004061:exon6:c.T266C:p.V89A |
|
5 |
31423007 |
1 |
DROSHA |
T |
C |
exonic |
synonymous SNV |
DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P |
RS2287584 |
HDL cholesterol:Cystatin C in
serum:Adiponectin levels |
|
5 |
31538692 |
1 |
C5orf22 |
A |
C |
exonic |
nonsynonymous SNV |
C5orf22:NM_018356:exon4:c.A703C:p.T235P |
RS17410000 |
Height:Advanced age-related macular
degeneration |
|
5 |
32403346 |
2 |
ZFR |
C |
T |
exonic |
nonsynonymous SNV |
ZFR:NM_016107:exon8:c.G1381A:p.V461I |
RS4867440 |
Spine bone mineral density
(BMD):3-Aminoisobutyrate concentration:Hypertension (early onset
hypertension):Salmonella-induced pyroptosis |
|
5 |
33989518 |
2 |
AMACR |
C |
T |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K |
RS2278008 |
LDL cholesterol change with
statins:Serum creatinine:Gene expression of AMACR in peripheral blood
monocytes:Total cholesterol:HDL cholesterol:Gene expression of AMACR (probeID
ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases
and controls |
|
5 |
33998883 |
2 |
AMACR |
A |
G |
exonic |
nonsynonymous SNV |
AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S |
RS2287939 |
Gene expression of AMACR [probe
209426_s_at] in lymphoblastoid cell lines:Spine bone mineral density
(BMD):Schizophrenia:Simpson-Angus Scale:Serum creatinine:Total
cholesterol:LDL cholesterol:Gene expression of AMACR in CD4+
lymphocytes:Birth weight:Gene expression of AMACR (probeID ILMN_1759670) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
AMACR (probeID ILMN_1759670) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of SLC45A2 (ENSG00000164175) in dendritic cells treated
with Mycobacterium tuberculosis:Gene expression of AMACR (probeID
ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of AMACR (probeID ILMN_1759670) in cerebellum in non-Alzheimer's
disease samples:Gene expression of AMACR (probeID ILMN_2367172) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of AMACR
(probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases:Gene
expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR
(probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases |
|
5 |
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 |
35641582 |
2 |
SPEF2 |
A |
C |
exonic |
nonsynonymous SNV |
SPEF2:NM_024867:exon3:c.A211C:p.N71H,SPEF2:NM_144722:exon3:c.A211C:p.N71H |
RS6897513 |
Chronic kidney disease:Gene
expression of SPEF2 in blood |
|
5 |
35654711 |
2 |
SPEF2 |
C |
T |
exonic |
synonymous SNV |
SPEF2:NM_024867:exon7:c.C861T:p.D287D,SPEF2:NM_144722:exon7:c.C861T:p.D287D |
RS2270558 |
Chronic kidney disease:Gene
expression of SPEF2 in blood |
|
5 |
37364443 |
2 |
NUP155 |
C |
T |
exonic |
synonymous SNV |
NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L |
|
5 |
38950776 |
2 |
RICTOR |
G |
A |
exonic |
synonymous SNV |
RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S |
RS2115949 |
Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
5 |
40852451 |
2 |
CARD6 |
C |
G |
exonic |
synonymous SNV |
CARD6:NM_032587:exon3:c.C1017G:p.T339T |
|
5 |
43297144 |
1 |
HMGCS1 |
A |
G |
exonic |
synonymous SNV |
HMGCS1:NM_001324223:exon3:c.T573C:p.Y191Y,HMGCS1:NM_001324219:exon4:c.T699C:p.Y233Y,HMGCS1:NM_001324222:exon4:c.T573C:p.Y191Y,HMGCS1:NM_001324224:exon4:c.T573C:p.Y191Y,HMGCS1:NM_002130:exon4:c.T699C:p.Y233Y,HMGCS1:NM_001098272:exon5:c.T699C:p.Y233Y,HMGCS1:NM_001324220:exon5:c.T699C:p.Y233Y,HMGCS1:NM_001330663:exon5:c.T699C:p.Y233Y |
RS3733769 |
Total cholesterol:Gene expression
of NNT in peripheral blood monocytes:Systolic blood pressure (SBP):Refractive
error |
|
5 |
43505993 |
1 |
C5orf34 |
A |
G |
exonic |
synonymous SNV |
C5orf34:NM_198566:exon4:c.T789C:p.N263N |
RS7710628 |
Triglycerides:Triglycerides change
with statins:Serum creatinine:Aortic valve calcium |
|
5 |
43509348 |
2 |
C5orf34 |
T |
A |
exonic |
nonsynonymous SNV |
C5orf34:NM_198566:exon2:c.A94T:p.T32S |
|
5 |
43609343 |
1 |
NNT |
C |
T |
exonic |
synonymous SNV |
NNT:NM_012343:exon2:c.C46T:p.L16L,NNT:NM_182977:exon2:c.C46T:p.L16L |
RS10057103 |
Triglycerides change with
statins:Waist hip ratio:Comorbid depressive syndrome and alcohol
dependence:Aortic valve calcium |
|
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 |
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 |
56111751 |
2 |
MAP3K1 |
G |
C |
exonic |
synonymous SNV |
MAP3K1:NM_005921:exon1:c.G351C:p.A117A |
|
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 |
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 |
64267595 |
2 |
CWC27 |
T |
C |
exonic |
synonymous SNV |
CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L |
RS2278351 |
Hoarding traits |
|
5 |
64881936 |
2 |
PPWD1 |
A |
G |
exonic |
synonymous SNV |
PPWD1:NM_001278929:exon9:c.A1257G:p.P419P,PPWD1:NM_001278927:exon10:c.A1305G:p.P435P,PPWD1:NM_015342:exon10:c.A1725G:p.P575P,PPWD1:NM_001278926:exon11:c.A1635G:p.P545P |
RS27141 |
Serum creatinine:Gene expression of
PPWD1 in normal prepouch ileum |
|
5 |
65317181 |
2 |
ERBIN |
C |
T |
exonic |
synonymous SNV |
ERBIN:NM_001006600:exon8:c.C565T:p.L189L,ERBIN:NM_001253697:exon8:c.C565T:p.L189L,ERBIN:NM_001253698:exon8:c.C565T:p.L189L,ERBIN:NM_001253699:exon8:c.C565T:p.L189L,ERBIN:NM_001253701:exon8:c.C565T:p.L189L,ERBIN:NM_018695:exon8:c.C565T:p.L189L |
RS706679 |
Major depressive disorder (broad
definition) (males):Waist hip ratio |
|
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 |
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 |
77425028 |
2 |
AP3B1 |
A |
T |
exonic |
nonsynonymous SNV |
AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E |
RS6453373 |
HDL cholesterol:HDL cholesterol
change with statins |
|
5 |
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 |
79945871 |
2 |
MTRNR2L2 |
G |
A |
exonic |
nonsynonymous SNV |
MTRNR2L2:NM_001190470:exon1:c.C35T:p.S12L |
|
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 |
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 |
89769728 |
2 |
MBLAC2 |
T |
C |
exonic |
nonsynonymous SNV |
MBLAC2:NM_203406:exon1:c.A382G:p.T128A |
|
5 |
96245439 |
2 |
ERAP2 |
C |
T |
exonic |
synonymous SNV |
ERAP2:NM_001329229:exon14:c.C2190T:p.S730S,ERAP2:NM_001130140:exon15:c.C2325T:p.S775S,ERAP2:NM_022350:exon15:c.C2325T:p.S775S |
RS1056893 |
Irritible bowel syndrome:HDL
cholesterol:2 hour glucose:Fasting blood glucose:Gene expression of ERAP1 in
peripheral blood monocytes:Gene expression of ERAP2 in peripheral blood
monocytes:Comorbid depressive syndrome and alcohol dependence:Serum metabolite
(mass spec peak: 489.2 m/z):Gene expression of ERAP2 in normal prepouch
ileum:Gene expression of ERAP2 (probeID ILMN_1743145) in whole
blood:Personality disorders (PD) - Cluster C:Advanced age-related macular
degeneration (geographic atrophy) |
|
5 |
96512865 |
2 |
RIOK2 |
T |
A |
exonic |
synonymous SNV |
RIOK2:NM_001159749:exon4:c.A453T:p.L151L,RIOK2:NM_018343:exon4:c.A453T:p.L151L |
|
5 |
96512871 |
2 |
RIOK2 |
T |
A |
exonic |
synonymous SNV |
RIOK2:NM_001159749:exon4:c.A447T:p.S149S,RIOK2:NM_018343:exon4:c.A447T:p.S149S |
|
5 |
98109838 |
2 |
RGMB |
A |
C |
exonic |
nonsynonymous SNV |
RGMB:NM_001012761:exon3:c.A187C:p.S63R |
|
5 |
102520400 |
2 |
PPIP5K2 |
A |
C |
exonic |
synonymous SNV |
PPIP5K2:NM_001345871:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345874:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345875:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345877:exon25:c.A2947C:p.R983R,PPIP5K2:NM_001276277:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345873:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_001345876:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345878:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_015216:exon26:c.A3124C:p.R1042R |
RS26821 |
Gene expression of PAM in blood
cells in Celiac disease:Schizophrenia:Differential exon level expression of
HISPPD1 [probe 2822452] in peripheral blood mononuclear cells:Differential
exon level expression of HISPPD1 [probe 2822452] in brain cortex:2 hour
glucose:HDL cholesterol change with statins:Rheumatoid arthritis:Height:Gene
expression of PAM in blood:Years of education:Gene expression of probeID
ILMN_1870041 in whole blood |
|
5 |
108516459 |
1 |
FER |
C |
T |
exonic |
nonsynonymous SNV |
FER:NM_001308031:exon9:c.C953T:p.A318V,FER:NM_001308028:exon16:c.C1535T:p.A512V,FER:NM_005246:exon18:c.C2060T:p.A687V |
|
5 |
108516535 |
1 |
FER |
A |
T |
exonic |
synonymous SNV |
FER:NM_001308031:exon9:c.A1029T:p.G343G,FER:NM_001308028:exon16:c.A1611T:p.G537G,FER:NM_005246:exon18:c.A2136T:p.G712G |
|
5 |
108516541 |
1 |
FER |
T |
C |
exonic |
synonymous SNV |
FER:NM_001308031:exon9:c.T1035C:p.Y345Y,FER:NM_001308028:exon16:c.T1617C:p.Y539Y,FER:NM_005246:exon18:c.T2142C:p.Y714Y |
|
5 |
109181682 |
2 |
MAN2A1 |
A |
T |
exonic |
synonymous SNV |
MAN2A1:NM_002372:exon18:c.A2817T:p.S939S |
RS3186988 |
Total cholesterol:LDL
cholesterol:Triglycerides change with statins:College completion:Years of
education:Obesity with early age of onset (age >2):Refractive error |
|
5 |
112176756 |
2 |
APC |
T |
A |
exonic |
nonsynonymous SNV |
APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D |
RS459552 |
C10:2 /
C16-OH:C10:2:Height:Radiation response to therapy (radiation AUC):Body mass
index (BMI):PROP taste detection threshold:Advanced age-related macular
degeneration (geographic atrophy) |
|
5 |
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 |
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 |
118264303 |
1 |
DTWD2 |
T |
C |
exonic |
nonsynonymous SNV |
DTWD2:NM_001308081:exon4:c.A328G:p.I110V,DTWD2:NM_173666:exon4:c.A526G:p.I176V |
|
5 |
130766662 |
2 |
RAPGEF6 |
T |
C |
exonic |
nonsynonymous SNV |
RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R |
RS1291602 |
Gene expression of CDC42SE2 [probe
1552613_s_at] in lymphoblastoid cell lines:Gene expression of probe 229026_at
in lymphoblastoid cell lines:Gene expression of CDC42SE2 [probe 1552612_at]
in lymphoblastoid cell lines:Premature ovarian failure:Total cholesterol:LDL
cholesterol:HDL cholesterol:Triglycerides change with statins:Lp-PLA2
mass:Height:Gene expression of CDC42SE2 in blood:Sporadic Creutzfeldt-Jakob
disease:Parkinson's disease |
|
5 |
131008194 |
2 |
FNIP1 |
T |
C |
exonic |
nonsynonymous SNV |
FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_001346114:exon13:c.A1808G:p.Q603R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R |
RS26008 |
Triglycerides:Simpson-Angus
Scale:Triglycerides:Neuroblastoma (brain cancer):Gene expression of RAPGEF6
in blood:Age at death with kuru exposure:Hypertension (early onset
hypertension):College completion:Advanced age-related macular
degeneration:Parkinson's disease |
|
5 |
132098242 |
2 |
8-Sep |
A |
G |
exonic |
synonymous SNV |
SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N |
|
5 |
137028029 |
2 |
KLHL3 |
T |
C |
exonic |
synonymous SNV |
KLHL3:NM_001257195:exon3:c.A225G:p.A75A,KLHL3:NM_001257194:exon5:c.A375G:p.A125A,KLHL3:NM_017415:exon5:c.A471G:p.A157A |
|
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 |
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 |
148682039 |
2 |
|
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 |
150072464 |
1 |
RBM22 |
T |
G |
exonic |
synonymous SNV |
RBM22:NM_018047:exon10:c.A1125C:p.P375P |
|
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 |
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 |
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 |
175792605 |
2 |
ARL10 |
G |
C |
exonic |
synonymous SNV |
ARL10:NM_001317948:exon1:c.G39C:p.L13L,ARL10:NM_173664:exon1:c.G39C:p.L13L |
|
5 |
176025938 |
2 |
GPRIN1 |
T |
C |
exonic |
nonsynonymous SNV |
GPRIN1:NM_052899:exon2:c.A898G:p.M300V |
|
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 |
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 |
179267949 |
2 |
MRNIP |
T |
C |
exonic |
nonsynonymous SNV |
MRNIP:NM_001017987:exon4:c.A295G:p.R99G,MRNIP:NM_016175:exon6:c.A460G:p.R154G |
RS248248 |
Gene expression of SQSTM1 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of OSIL in blood
cells in Celiac disease:Gene expression of SQSTM1 in CD4+
lymphocytes:Height:Comorbid depressive syndrome and alcohol dependence:PROP
taste detection threshold:Gene expression of SQSTM1 in liver:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Aortic valve calcium:Tetrology of fallot:Hypertension (early onset
hypertension):Obesity with early age of onset (age >2) |
|
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 |
10942964 |
2 |
SYCP2L |
A |
G |
exonic |
nonsynonymous SNV |
SYCP2L:NM_001040274:exon23:c.A1939G:p.N647D |
RS3798751 |
PROP taste detection threshold |
|
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 |
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 |
17543302 |
2 |
CAP2 |
A |
G |
exonic |
synonymous SNV |
CAP2:NM_006366:exon11:c.A1137G:p.K379K |
RS9256 |
Infant head circumference |
|
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 |
21065450 |
2 |
CDKAL1 |
A |
G |
exonic |
synonymous SNV |
CDKAL1:NM_017774:exon12:c.A1227G:p.P409P |
|
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 |
26285683 |
2 |
HIST1H4H |
T |
C |
exonic |
synonymous SNV |
HIST1H4H:NM_003543:exon1:c.A45G:p.G15G |
RS2393593 |
2 hour glucose:HDL
cholesterol:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe
cg21824213] in Temporal cortex:Methylation levels at chr11:65872173-65872223
[hg18 coord, probe cg10839997] in Temporal cortex:Methylation levels at
chr11:65872173-65872223 [hg18 coord, probe cg10839997] in
Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe
cg21824213] in Caudal pons:Methylation levels at chr15:38673339-38673389
[hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at
chr15:38673339-38673389 [hg18 coord, probe cg21824213] in
Cerebellum:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe
cg10839997] in Frontal cortex:Total cholesterol:HDL cholesterol:Height:PROP
taste detection threshold:Gene expression of HIST1H4H in normal prepouch
ileum:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in
Alzheimer's disease cases and controls:Years of education:Gene expression of
HIST1H2BF (probeID ILMN_1779373) in temporal cortex in Alzheimer's disease
cases and controls |
|
6 |
26393021 |
2 |
BTN2A2 |
G |
A |
exonic |
synonymous SNV |
BTN2A2:NM_001197239:exon6:c.G768A:p.S256S,BTN2A2:NM_181531:exon7:c.G1050A:p.S350S,BTN2A2:NM_001197237:exon8:c.G1398A:p.S466S,BTN2A2:NM_006995:exon8:c.G1398A:p.S466S |
RS1614887 |
Rheumatoid arthritis:Gene
expression of BTN3A2 in peripheral blood monocytes:Gene expression of BTN2A1
in peripheral blood monocytes:Gene expression of ZNF322B in peripheral blood
monocytes:Gene expression of BTN3A1 in peripheral blood monocytes:Gene expression
of BTN3A3 [transcript NM_197974, probe 6270427] in liver:Salmonella-induced
pyroptosis |
|
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 |
28359170 |
2 |
ZSCAN12 |
A |
G |
exonic |
synonymous SNV |
ZSCAN12:NM_001163391:exon4:c.T897C:p.D299D |
RS2859348 |
Gene expression of ZNF323 (probeID
ILMN_2377991) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID
ILMN_1655748) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in
Alzheimer's disease cases and controls:Obesity with early age of onset (age
>2) |
|
6 |
28542520 |
2 |
ZBED9 |
C |
T |
exonic |
synonymous SNV |
ZBED9:NM_052923:exon3:c.G1962A:p.K654K,ZBED9:NM_001329616:exon5:c.G1509A:p.K503K |
RS370520 |
Type 1 diabetes, combined control
dataset:LDL cholesterol:Schizophrenia:HOMA-B:Fasting blood glucose:Rheumatoid
arthritis:Methylation levels at chr6:28429280-28429330 [hg18 coord, probe
cg21750589] in Caudal pons:Gene expression of RFP in peripheral blood
monocytes:Autism with low IQ:Height |
|
6 |
30457732 |
2 |
HLA-E |
T |
C |
exonic |
synonymous SNV |
HLA-E:NM_005516:exon2:c.T294C:p.N98N |
|
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 |
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 |
31118565 |
2 |
CCHCR1 |
C |
G |
exonic |
synonymous SNV |
CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V |
RS130078 |
Total
cholesterol:Triglycerides:Height:Body mass index (BMI):Grave's
disease:Parkinson's disease:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
6 |
31129616 |
2 |
TCF19 |
A |
G |
exonic |
nonsynonymous SNV |
TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V,TCF19:NM_001318908:exon4:c.A631G:p.M211V |
RS2073721 |
Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at]
in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Gene expression of HCG27 in lymphoblastoid cell lines:Total
cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration:Gene expression of CCHCR1 in normal prepouch
ileum:Parkinson's disease |
|
6 |
31129642 |
2 |
TCF19 |
A |
C |
exonic |
synonymous SNV |
TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P,TCF19:NM_001318908:exon4:c.A657C:p.P219P |
RS2073722 |
Gene expression of HLA-C [probe
208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe
214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe
1560767_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at]
in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell
lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL
cholesterol:Serum creatinine:Rheumatoid arthritis:Triglycerides:LDL
cholesterol:Total cholesterol:Height:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Propylene glycol concentration:Aortic valve
calcium:Advanced age-related macular degeneration:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Advanced
age-related macular degeneration (geographic atrophy) |
|
6 |
31237802 |
1 |
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 |
31239430 |
1 |
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 |
31323233 |
1 |
HLA-B |
A |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.T756C:p.T252T |
|
6 |
31323296 |
2 |
HLA-B |
A |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon4:c.T693C:p.G231G |
|
6 |
31324077 |
1 |
HLA-B |
C |
G |
exonic |
synonymous SNV |
HLA-B:NM_005514:exon3:c.G486C:p.T162T |
|
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 |
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 |
31778272 |
2 |
HSPA1L |
G |
A |
exonic |
nonsynonymous SNV |
HSPA1L:NM_005527:exon2:c.C1478T:p.T493M |
RS2227956 |
Type 1 diabetes:Rheumatoid
arthritis:Height:Rheumatoid arthritis:Differential exon level expression of
C2 [probe 2902816] in brain cortex:Flucloxacillin drug-induced liver
injury:Rheumatoid arthritis: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:Multiple sclerosis:Primary biliary
cirrhosis:Primary biliary cirrhosis (antimitochondrial-antibody positive
only):Total cholesterol:Triglycerides:Asthma:Height:Waist hip ratio:Body mass
index (BMI):Gene expression of BAT4 [probe ILMN_20274] in osteoblasts treated
with BMP2:Late onset Alzheimer's disease:Gene expression of LST1 in
blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of [probe
6280471 centered at chr6:31885634] in blood:Gene expression of DDAH2 in
blood:Gene expression of BAT2 in blood:Coronary artery disease (CAD):Infant
head circumference:Gene expression of HLA-DQB1 in normal prepouch ileum:Gene
expression of HLA-DRB5 in normal prepouch ileum |
|
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 |
33382288 |
2 |
PHF1 |
G |
A |
exonic |
nonsynonymous SNV |
PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K |
RS3116713 |
Alzheimer's disease:Fasting
insulin:HOMA-IR:Body mass index (BMI):Gene expression of TAPBP in blood:Gene
expression of HSD17B8 in blood:Gene expression of ITPR3 in blood:Systolic
blood pressure (SBP):Imprinting effects on cleft lip without cleft palate |
|
6 |
33422976 |
2 |
ZBTB9 |
T |
G |
exonic |
synonymous SNV |
ZBTB9:NM_152735:exon2:c.T99G:p.S33S |
RS3119025 |
Fasting insulin:HOMA-IR:Body mass
index (BMI):Systolic blood pressure (SBP):Salmonella-induced
pyroptosis:College completion |
|
6 |
35050506 |
2 |
ANKS1A |
G |
A |
exonic |
synonymous SNV |
ANKS1A:NM_015245:exon18:c.G2748A:p.P916P |
RS2177382 |
Height:Adiponectin levels:Years of
education |
|
6 |
35391787 |
2 |
PPARD |
C |
T |
exonic |
synonymous SNV |
PPARD:NM_001171820:exon4:c.C195T:p.N65N,PPARD:NM_001171819:exon5:c.C372T:p.N124N,PPARD:NM_006238:exon6:c.C489T:p.N163N,PPARD:NM_177435:exon6:c.C489T:p.N163N,PPARD:NM_001171818:exon7:c.C489T:p.N163N |
RS2076167 |
Fasting
insulin:HOMA-IR:HOMA-B:Total cholesterol:LDL cholesterol:Height:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Adiponectin levels |
|
6 |
36098410 |
2 |
MAPK13 |
A |
C |
exonic |
synonymous SNV |
MAPK13:NM_002754:exon1:c.A51C:p.T17T |
RS1059227 |
Height:Gene expression of MAPK13 in
normal prepouch ileum |
|
6 |
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 |
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 |
42532102 |
2 |
UBR2 |
C |
T |
exonic |
synonymous SNV |
UBR2:NM_001184801:exon1:c.C45T:p.S15S,UBR2:NM_015255:exon1:c.C45T:p.S15S |
RS3749897 |
LDL cholesterol:Total
cholesterol:Advanced age-related macular degeneration |
|
6 |
42600319 |
2 |
UBR2 |
A |
G |
exonic |
synonymous SNV |
UBR2:NM_015255:exon12:c.A1311G:p.L437L |
RS5014584 |
Advanced age-related macular
degeneration (geographic atrophy) |
|
6 |
42627434 |
2 |
UBR2 |
G |
A |
exonic |
nonsynonymous SNV |
UBR2:NM_015255:exon30:c.G3283A:p.A1095T |
RS6917033 |
LDL
cholesterol:Triglycerides:Rheumatoid arthritis:Late onset Alzheimer's
disease:Systolic blood pressure (SBP):Gene expression of PRPH2 (probeID
ILMN_1807610) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of PRPH2 (probeID ILMN_1807610) in temporal cortex in Alzheimer's
disease cases and controls:Salmonella-induced pyroptosis |
|
6 |
42713618 |
2 |
TBCC |
A |
G |
exonic |
nonsynonymous SNV |
TBCC:NM_003192:exon1:c.T194C:p.V65A |
RS2234026 |
Total cholesterol:Infant head
circumference:Aortic valve calcium |
|
6 |
43014298 |
2 |
CUL7 |
T |
C |
exonic |
synonymous SNV |
CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q |
|
6 |
43014299 |
2 |
CUL7 |
T |
C |
exonic |
nonsynonymous SNV |
CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R |
|
6 |
43152573 |
2 |
CUL9 |
A |
G |
exonic |
synonymous SNV |
CUL9:NM_015089:exon2:c.A525G:p.L175L |
|
6 |
43154091 |
2 |
CUL9 |
C |
G |
exonic |
synonymous SNV |
CUL9:NM_015089:exon4:c.C1149G:p.L383L |
|
6 |
43184132 |
2 |
CUL9 |
A |
C |
exonic |
nonsynonymous SNV |
CUL9:NM_015089:exon31:c.A6173C:p.H2058P |
RS2273709 |
Stabilized warfarin
dose:Schizophrenia:Schizophrenia:Autism with high IQ:Height:Waist hip
ratio:Gene expression of CUL9 [transcript NM_015089, probe A_23_P311740] in
liver:Schizophrenia:Gene expression of RP3-330M21.3 in blood:Obesity with
early age of onset (age >2):Refractive error:Psychosis:Gene expression of
CRIP3 (ENSG00000146215) in dendritic cells:Primary rhegmatogenous retinal
detachment |
|
6 |
43306346 |
2 |
ZNF318 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF318:NM_014345:exon10:c.T5390C:p.V1797A |
RS1459675 |
Cystatin C in serum:Urinary
albumin-to-creatinine ratio |
|
6 |
43336771 |
2 |
ZNF318 |
C |
T |
exonic |
synonymous SNV |
ZNF318:NM_014345:exon1:c.G333A:p.R111R |
|
6 |
44218120 |
2 |
HSP90AB1 |
A |
G |
exonic |
synonymous SNV |
HSP90AB1:NM_001271969:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271970:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271971:exon6:c.A597G:p.K199K,HSP90AB1:NM_001271972:exon6:c.A711G:p.K237K,HSP90AB1:NM_007355:exon6:c.A741G:p.K247K |
RS13296 |
Fasting insulin:Birth weight |
|
6 |
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 |
46672943 |
2 |
PLA2G7 |
A |
G |
exonic |
nonsynonymous SNV |
PLA2G7:NM_001168357:exon11:c.T1136C:p.V379A,PLA2G7:NM_005084:exon11:c.T1136C:p.V379A |
RS1051931 |
Total cholesterol:HDL
cholesterol:Lp-PLA2 activity:Urinary albumin-to-creatinine
ratio:Microalbuminuria:Gene expression of PLA2G7 in blood:Lp-PLA2
activity:Age at death with kuru exposure |
|
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 |
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 |
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 |
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 |
79656562 |
1 |
PHIP |
A |
T |
exonic |
synonymous SNV |
PHIP:NM_017934:exon37:c.T4236A:p.A1412A |
RS2275291 |
HDL cholesterol change with
statins:HDL cholesterol:Aortic valve calcium |
|
6 |
79675701 |
1 |
PHIP |
A |
G |
exonic |
nonsynonymous SNV |
PHIP:NM_017934:exon28:c.T3278C:p.L1093P |
RS9350797 |
Eye color:Differential exon level
expression of PHIP [probe 2961826] in peripheral blood mononuclear
cells:Differential exon level expression of PHIP [probe 2961826] in brain
cortex:HDL cholesterol change with statins:Gene expression of ZBTB45 in
peripheral blood monocytes:Gene expression of RP11-173D14.1 in blood:Gene
expression of PHIP in blood:Aortic valve calcium |
|
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 |
86199233 |
2 |
NT5E |
A |
G |
exonic |
nonsynonymous SNV |
NT5E:NM_001204813:exon6:c.A1126G:p.T376A,NT5E:NM_002526:exon6:c.A1126G:p.T376A |
RS386586969 |
Comorbid depressive syndrome and
alcohol dependence:College completion:Mitral annular calcium:Tetrology of
fallot:Years of education:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG:Obesity with early age of onset (age >2):Prostate
cancer |
|
6 |
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 |
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 |
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 |
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 |
105726036 |
1 |
PREP |
C |
T |
exonic |
nonsynonymous SNV |
PREP:NM_002726:exon15:c.G2116A:p.V706I |
RS1051484 |
Schizophrenia:Abnormal Involuntary
Movement Scale:LDL cholesterol change with statins:Cystatin C in serum:Gene
expression of IL12A in peripheral blood monocytes:Coronary artery disease
(CAD) |
|
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 |
112457390 |
2 |
LAMA4 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S |
|
6 |
112508769 |
2 |
LAMA4 |
T |
G |
exonic |
synonymous SNV |
LAMA4:NM_001105206:exon8:c.A849C:p.A283A,LAMA4:NM_001105207:exon8:c.A828C:p.A276A,LAMA4:NM_002290:exon8:c.A828C:p.A276A |
|
6 |
112508770 |
2 |
LAMA4 |
G |
T |
exonic |
nonsynonymous SNV |
LAMA4:NM_001105206:exon8:c.C848A:p.A283E,LAMA4:NM_001105207:exon8:c.C827A:p.A276E,LAMA4:NM_002290:exon8:c.C827A:p.A276E |
|
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 |
116757557 |
2 |
DSE |
T |
C |
exonic |
synonymous SNV |
DSE:NM_001080976:exon6:c.T1926C:p.N642N,DSE:NM_001322939:exon6:c.T1983C:p.N661N,DSE:NM_001322941:exon6:c.T1365C:p.N455N,DSE:NM_013352:exon6:c.T1926C:p.N642N,DSE:NM_001322937:exon7:c.T1926C:p.N642N,DSE:NM_001322938:exon7:c.T1926C:p.N642N,DSE:NM_001322940:exon7:c.T1365C:p.N455N |
RS560644 |
Salmonella-induced pyroptosis |
|
6 |
119149149 |
2 |
MCM9 |
C |
G |
exonic |
nonsynonymous SNV |
MCM9:NM_017696:exon9:c.G1673C:p.C558S |
|
6 |
126249914 |
1 |
NCOA7 |
T |
G |
exonic |
nonsynonymous SNV |
NCOA7:NM_001199622:exon6:c.T657G:p.D219E,NCOA7:NM_001199621:exon15:c.T2481G:p.D827E,NCOA7:NM_001122842:exon16:c.T2793G:p.D931E,NCOA7:NM_181782:exon16:c.T2826G:p.D942E,NCOA7:NM_001199619:exon17:c.T2826G:p.D942E,NCOA7:NM_001199620:exon18:c.T2826G:p.D942E |
RS1567 |
Fasting insulin:HOMA-IR:Serum
creatinine:Total cholesterol:LDL cholesterol:Triglycerides:Height:College
completion |
|
6 |
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 |
128403745 |
1 |
PTPRK |
A |
G |
exonic |
synonymous SNV |
PTPRK:NM_001291983:exon9:c.T1227C:p.V409V,PTPRK:NM_001135648:exon10:c.T1614C:p.V538V,PTPRK:NM_001291981:exon10:c.T1614C:p.V538V,PTPRK:NM_001291982:exon10:c.T1614C:p.V538V,PTPRK:NM_001291984:exon10:c.T1614C:p.V538V,PTPRK:NM_002844:exon10:c.T1614C:p.V538V |
RS17828130 |
HDL cholesterol change with
statins:Partial epilepsy:Autism:Tetrology of fallot |
|
6 |
130031215 |
2 |
ARHGAP18 |
T |
C |
exonic |
nonsynonymous SNV |
ARHGAP18:NM_033515:exon1:c.A67G:p.T23A |
RS3752536 |
Stabilized warfarin dose:Arthritis
including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Cystatin C
in serum:Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease |
|
6 |
130761798 |
1 |
TMEM200A |
T |
C |
exonic |
synonymous SNV |
TMEM200A:NM_001258276:exon2:c.T231C:p.A77A,TMEM200A:NM_001258278:exon2:c.T231C:p.A77A,TMEM200A:NM_052913:exon2:c.T231C:p.A77A,TMEM200A:NM_001258277:exon3:c.T231C:p.A77A |
RS3813360 |
Gene expression of KIAA1913 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol change
with statins |
|
6 |
130761957 |
1 |
TMEM200A |
A |
G |
exonic |
synonymous SNV |
TMEM200A:NM_001258276:exon2:c.A390G:p.P130P,TMEM200A:NM_001258278:exon2:c.A390G:p.P130P,TMEM200A:NM_052913:exon2:c.A390G:p.P130P,TMEM200A:NM_001258277:exon3:c.A390G:p.P130P |
RS3813359 |
Gene expression of KIAA1913 in
CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:Cystatin C in
serum:Years of education:Gene expression of TMEM200A in normal prepouch ileum |
|
6 |
132271952 |
2 |
CTGF |
G |
C |
exonic |
nonsynonymous SNV |
CTGF:NM_001901:exon2:c.C247G:p.H83D |
|
6 |
132271959 |
2 |
CTGF |
T |
G |
exonic |
synonymous SNV |
CTGF:NM_001901:exon2:c.A240C:p.L80L |
|
6 |
132271980 |
2 |
CTGF |
T |
G |
exonic |
synonymous SNV |
CTGF:NM_001901:exon2:c.A219C:p.P73P |
|
6 |
138413269 |
1 |
PERP |
A |
G |
exonic |
synonymous SNV |
PERP:NM_022121:exon3:c.T492C:p.I164I |
RS648396 |
Gene expression of PERP in normal
prepouch ileum |
|
6 |
138413333 |
1 |
PERP |
G |
C |
exonic |
nonsynonymous SNV |
PERP:NM_022121:exon3:c.C428G:p.P143R |
|
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 |
139487836 |
2 |
HECA |
T |
C |
exonic |
synonymous SNV |
HECA:NM_016217:exon2:c.T687C:p.N229N |
RS3173082 |
Salmonella-induced pyroptosis:Gene
expression of HECA in normal prepouch ileum:Diabetic retinopathy in Type 2
diabetes mellitus |
|
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 |
146234644 |
2 |
SHPRH |
G |
A |
exonic |
synonymous SNV |
SHPRH:NM_001042683:exon24:c.C4296T:p.C1432C,SHPRH:NM_173082:exon24:c.C4308T:p.C1436C |
RS9497426 |
2 hour glucose:Chronic kidney
disease:Methylation levels at chr6:146154963-146155013 [hg18 coord, probe
cg25629118] in Cerebellum:Gene expression of SHPRH in blood:Birth weight |
|
6 |
147680359 |
1 |
STXBP5 |
A |
G |
exonic |
synonymous SNV |
STXBP5:NM_139244:exon21:c.A2337G:p.L779L,STXBP5:NM_001127715:exon23:c.A2445G:p.L815L |
RS9390459 |
von Willebrand factor (vWF) in
plasma:FVIII in plasma:Neuroblastoma (brain cancer):Urinary
albumin-to-creatinine ratio:Microalbuminuria:von Willebrand factor (vWF):Gene
expression of STXBP5 in blood |
|
6 |
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 |
151336739 |
1 |
MTHFD1L |
C |
G |
exonic |
synonymous SNV |
MTHFD1L:NM_001350490:exon6:c.C372G:p.S124S,MTHFD1L:NM_001242767:exon24:c.C2499G:p.S833S,MTHFD1L:NM_001242768:exon24:c.C2301G:p.S767S,MTHFD1L:NM_001350486:exon24:c.C2298G:p.S766S,MTHFD1L:NM_001350487:exon24:c.C2166G:p.S722S,MTHFD1L:NM_001350492:exon24:c.C2169G:p.S723S,MTHFD1L:NM_001350493:exon24:c.C2169G:p.S723S,MTHFD1L:NM_015440:exon24:c.C2496G:p.S832S |
|
6 |
152529260 |
1 |
SYNE1 |
G |
A |
exonic |
synonymous SNV |
SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I |
RS3798756 |
Alzheimer's disease:Fasting blood
glucose:HOMA-IR:Adiponectin levels:Refractive error |
|
6 |
152540278 |
2 |
SYNE1 |
A |
C |
exonic |
nonsynonymous SNV |
SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V |
RS2147377 |
Parkinson's disease |
|
6 |
154771277 |
2 |
CNKSR3 |
A |
G |
exonic |
synonymous SNV |
CNKSR3:NM_173515:exon2:c.T168C:p.I56I |
RS9322467 |
2 hour glucose:Comorbid depressive
syndrome and alcohol dependence:Advanced age-related macular degeneration
(geographic atrophy) |
|
6 |
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 |
155596901 |
2 |
CLDN20 |
T |
C |
exonic |
synonymous SNV |
CLDN20:NM_001001346:exon2:c.T48C:p.S16S |
RS927718 |
Gene expression of TFB1M [probe
228075_x_at] in lymphoblastoid cell lines:Gene expression of TFB1M [probe
219169_s_at] in lymphoblastoid cell lines:Gene expression of probe 240263_at
in lymphoblastoid cell lines:Height:Gene expression of TFB1M in normal prepouch
ileum:College completion:Diabetic retinopathy in Type 2 diabetes
mellitus:Infant head circumference |
|
6 |
158497717 |
1 |
SYNJ2 |
T |
C |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon16:c.T1641C:p.V547V,SYNJ2:NM_003898:exon17:c.T2352C:p.V784V |
RS2296508 |
Triglycerides:Gene expression
change of GTF2H5 (ENSG00000185068) in dendritic cells after treatment with
Mycobacterium tuberculosis:Salmonella-induced pyroptosis |
|
6 |
158507981 |
1 |
SYNJ2 |
G |
A |
exonic |
synonymous SNV |
SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R |
|
6 |
158571501 |
2 |
SERAC1 |
G |
A |
exonic |
synonymous SNV |
SERAC1:NM_032861:exon4:c.C249T:p.D83D |
RS6929274 |
Gene expression of SERAC1 in
liver:HDL cholesterol:LDL cholesterol change with statins:Gene expression of
SYNJ2 in blood:Gene expression of RP11-120J8.2 in blood:Systolic blood
pressure (SBP):Maternal transmission distortion:Transmission distortion |
|
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 |
158870081 |
1 |
TULP4 |
A |
G |
exonic |
synonymous SNV |
TULP4:NM_001007466:exon4:c.A597G:p.R199R,TULP4:NM_020245:exon4:c.A597G:p.R199R |
RS705956 |
Urinary albumin-to-creatinine
ratio:Salmonella-induced pyroptosis |
|
6 |
158924088 |
2 |
TULP4 |
T |
C |
exonic |
synonymous SNV |
TULP4:NM_020245:exon13:c.T3393C:p.D1131D |
|
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 |
160517481 |
1 |
IGF2R |
C |
T |
exonic |
synonymous SNV |
IGF2R:NM_000876:exon45:c.C6666T:p.L2222L |
RS1803989 |
Systolic blood pressure (SBP):Aortic
valve calcium |
|
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 |
167343141 |
1 |
RNASET2 |
G |
A |
exonic |
nonsynonymous SNV |
RNASET2:NM_003730:exon9:c.C706T:p.R236W |
RS11159 |
Abnormal Involuntary Movement
Scale:Barnes Akathisia Rating Scale:Triglycerides:HDL cholesterol:Body mass
index (BMI):Prostate cancer |
|
6 |
170176647 |
1 |
ERMARD |
C |
T |
exonic |
synonymous SNV |
ERMARD:NM_001278532:exon15:c.C1239T:p.I413I,ERMARD:NM_018341:exon16:c.C1617T:p.I539I |
RS4716399 |
Salmonella-induced
pyroptosis:Diabetic retinopathy in Type 2 diabetes mellitus |
|
6 |
170176648 |
1 |
ERMARD |
A |
G |
exonic |
nonsynonymous SNV |
ERMARD:NM_001278532:exon15:c.A1240G:p.S414G,ERMARD:NM_018341:exon16:c.A1618G:p.S540G |
RS4716346 |
Gene expression of hmm32345 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Diabetic
retinopathy in Type 2 diabetes mellitus |
|
7 |
299850 |
1 |
FAM20C |
G |
T |
exonic |
synonymous SNV |
FAM20C:NM_020223:exon10:c.G1659T:p.V553V |
|
7 |
299881 |
1 |
FAM20C |
A |
G |
exonic |
nonsynonymous SNV |
FAM20C:NM_020223:exon10:c.A1690G:p.N564D |
|
7 |
1481919 |
2 |
MICALL2 |
C |
A |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon7:c.G1620T:p.A540A |
|
7 |
1484572 |
2 |
MICALL2 |
A |
G |
exonic |
synonymous SNV |
MICALL2:NM_182924:exon6:c.T1134C:p.G378G |
|
7 |
2257612 |
1 |
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 |
2611878 |
2 |
IQCE |
T |
C |
exonic |
synonymous SNV |
IQCE:NM_001287501:exon3:c.T117C:p.T39T,IQCE:NM_001287502:exon3:c.T117C:p.T39T,IQCE:NM_001287500:exon4:c.T264C:p.T88T,IQCE:NM_001287499:exon5:c.T312C:p.T104T,IQCE:NM_152558:exon5:c.T312C:p.T104T |
|
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 |
5327564 |
1 |
SLC29A4 |
G |
A |
exonic |
synonymous SNV |
SLC29A4:NM_001040661:exon2:c.G117A:p.A39A,SLC29A4:NM_001300847:exon2:c.G117A:p.A39A,SLC29A4:NM_153247:exon2:c.G117A:p.A39A |
|
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 |
6204999 |
2 |
CYTH3 |
A |
C |
exonic |
synonymous SNV |
CYTH3:NM_004227:exon12:c.T1032G:p.T344T |
|
7 |
6370144 |
1 |
FAM220A |
G |
A |
exonic |
synonymous SNV |
FAM220A:NM_001037163:exon2:c.C642T:p.D214D |
RS1043965 |
Urinary albumin-to-creatinine
ratio:Parkinson's disease:Refractive error:Birth weight |
|
7 |
6656897 |
2 |
ZNF853 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF853:NM_017560:exon2:c.A89G:p.Q30R |
RS1806552 |
HOMA-B:Fasting insulin:HOMA-IR:Body
mass index (BMI) |
|
7 |
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 |
11022230 |
2 |
PHF14 |
A |
G |
exonic |
nonsynonymous SNV |
PHF14:NM_014660:exon3:c.A344G:p.K115R |
RS218966 |
Stabilized warfarin
dose:Differential exon level expression of PHF14 [probe 2990081] in
peripheral blood mononuclear cells:Differential exon level expression of
PHF14 [probe 2990081] in brain cortex:Stroke |
|
7 |
11022564 |
2 |
PHF14 |
G |
A |
exonic |
synonymous SNV |
PHF14:NM_014660:exon3:c.G678A:p.A226A |
|
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 |
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 |
21956405 |
1 |
CDCA7L |
G |
A |
exonic |
synonymous SNV |
CDCA7L:NM_001127371:exon2:c.C132T:p.C44C,CDCA7L:NM_018719:exon2:c.C132T:p.C44C,CDCA7L:NM_001127370:exon3:c.C30T:p.C10C |
RS1128250 |
Gene expression of CDCA7L in
peripheral blood monocytes |
|
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 |
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 |
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 |
29552213 |
1 |
CHN2 |
T |
C |
exonic |
synonymous SNV |
CHN2:NM_001293077:exon5:c.T645C:p.N215N,CHN2:NM_001293078:exon5:c.T549C:p.N183N,CHN2:NM_001293075:exon6:c.T588C:p.N196N,CHN2:NM_001293076:exon6:c.T687C:p.N229N,CHN2:NM_001293080:exon6:c.T723C:p.N241N,CHN2:NM_001039936:exon7:c.T861C:p.N287N,CHN2:NM_001293073:exon7:c.T726C:p.N242N,CHN2:NM_001293081:exon7:c.T648C:p.N216N,CHN2:NM_001293071:exon12:c.T1164C:p.N388N,CHN2:NM_001293072:exon13:c.T1224C:p.N408N,CHN2:NM_004067:exon13:c.T1269C:p.N423N,CHN2:NM_001293069:exon14:c.T1494C:p.N498N,CHN2:NM_001293070:exon14:c.T1308C:p.N436N |
RS3750099 |
Microalbuminuria |
|
7 |
29606288 |
1 |
PRR15 |
C |
T |
exonic |
nonsynonymous SNV |
PRR15:NM_001329996:exon2:c.C343T:p.P115S,PRR15:NM_001329997:exon2:c.C343T:p.P115S,PRR15:NM_175887:exon2:c.C343T:p.P115S |
|
7 |
32529936 |
1 |
LSM5 |
G |
C |
exonic |
synonymous SNV |
LSM5:NM_012322:exon1:c.C42G:p.P14P |
RS1584614 |
Gene expression of LOC402476 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DPY19L1P1 [probe
215102_at] in lymphoblastoid cell lines:HDL cholesterol:Cystatin C in
serum:Systolic blood pressure (SBP):Adiponectin levels:Infant head circumference |
|
7 |
32598630 |
1 |
AVL9 |
T |
A |
exonic |
nonsynonymous SNV |
AVL9:NM_015060:exon10:c.T769A:p.C257S |
RS2290213 |
Gene expression of LOC402476 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Simpson-Angus Scale:Fasting blood
glucose:LDL cholesterol change with statins:Total cholesterol change with
statins:Adiponectin levels |
|
7 |
32598656 |
1 |
AVL9 |
C |
T |
exonic |
synonymous SNV |
AVL9:NM_015060:exon10:c.C795T:p.S265S |
RS2290214 |
Gene expression of LOC402476 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:Fasting blood
glucose:LDL cholesterol change with statins:Adiponectin
levels:Salmonella-induced pyroptosis |
|
7 |
32623477 |
1 |
AVL9 |
C |
G |
exonic |
synonymous SNV |
AVL9:NM_015060:exon16:c.C1905G:p.S635S |
|
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 |
40027484 |
1 |
CDK13 |
A |
G |
exonic |
nonsynonymous SNV |
CDK13:NM_003718:exon2:c.A1498G:p.T500A,CDK13:NM_031267:exon2:c.A1498G:p.T500A |
RS3735135 |
Serum creatinine:Birth weight |
|
7 |
40127767 |
1 |
CDK13 |
G |
A |
exonic |
synonymous SNV |
CDK13:NM_003718:exon12:c.G3072A:p.K1024K,CDK13:NM_031267:exon12:c.G3072A:p.K1024K |
RS2302341 |
Serum creatinine |
|
7 |
43664280 |
2 |
STK17A |
A |
G |
exonic |
nonsynonymous SNV |
STK17A:NM_004760:exon7:c.A1084G:p.K362E |
RS1044141 |
Gene expression of C7orf44 [probe
209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian
failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal
cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood
monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene
expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with
dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in
blood:Gene expression of [probe 6510438 centered at chr7:43637667] in
blood:Refractive error:Advanced age-related macular degeneration (geographic
atrophy) |
|
7 |
43846603 |
1 |
BLVRA |
A |
G |
exonic |
synonymous SNV |
BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G |
RS7738 |
Fasting blood glucose:Triglycerides
change with statins:Chronic kidney disease:LDL cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
7 |
43916727 |
1 |
URGCP |
T |
G |
exonic |
nonsynonymous SNV |
URGCP:NM_017920:exon5:c.A2308C:p.M770L,URGCP:NM_001077663:exon6:c.A2335C:p.M779L,URGCP:NM_001077664:exon6:c.A2206C:p.M736L,URGCP:NM_001290075:exon6:c.A2206C:p.M736L,URGCP:NM_001290076:exon7:c.A2206C:p.M736L |
RS2232108 |
Schizophrenia:Alzheimer's disease
(APOE4 positive):Total cholesterol:Gene expression of BLVRA in blood:Gene
expression of POLM in blood:Gene expression of DBNL in blood:Gene expression
of C7orf44 in blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (geographic atrophy) |
|
7 |
43917013 |
1 |
URGCP |
G |
A |
exonic |
synonymous SNV |
URGCP:NM_017920:exon5:c.C2022T:p.H674H,URGCP:NM_001077663:exon6:c.C2049T:p.H683H,URGCP:NM_001077664:exon6:c.C1920T:p.H640H,URGCP:NM_001290075:exon6:c.C1920T:p.H640H,URGCP:NM_001290076:exon7:c.C1920T:p.H640H |
RS2232105 |
Schizophrenia:Total
cholesterol:Bipolar disorder:Gene expression of BLVRA in peripheral blood
monocytes:Gene expression of BLVRA in blood:Gene expression of POLM in
blood:Gene expression of DBNL in blood:Gene expression of C7orf44 in
blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced age-related
macular degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration
(geographic atrophy) |
|
7 |
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 |
47408029 |
1 |
TNS3 |
A |
G |
exonic |
synonymous SNV |
TNS3:NM_022748:exon17:c.T2214C:p.G738G |
RS2255744 |
PROP taste detection threshold |
|
7 |
47408974 |
1 |
TNS3 |
T |
A |
exonic |
synonymous SNV |
TNS3:NM_022748:exon17:c.A1269T:p.A423A |
|
7 |
50673029 |
1 |
GRB10 |
T |
C |
exonic |
synonymous SNV |
GRB10:NM_001001549:exon11:c.A1209G:p.A403A,GRB10:NM_001001550:exon12:c.A1173G:p.A391A,GRB10:NM_001350815:exon12:c.A1461G:p.A487A,GRB10:NM_001001555:exon13:c.A1173G:p.A391A,GRB10:NM_001350816:exon14:c.A1329G:p.A443A,GRB10:NM_001350814:exon15:c.A1347G:p.A449A |
RS4947710 |
LDL cholesterol:Triglycerides:HDL
cholesterol:Fasting blood glucose:HOMA-IR:Fasting insulin:Mitral annular
calcium |
|
7 |
55266417 |
2 |
EGFR |
T |
C |
exonic |
synonymous SNV |
EGFR:NM_001346941:exon17:c.T1908C:p.T636T,EGFR:NM_001346897:exon22:c.T2574C:p.T858T,EGFR:NM_001346899:exon22:c.T2574C:p.T858T,EGFR:NM_001346898:exon23:c.T2709C:p.T903T,EGFR:NM_001346900:exon23:c.T2550C:p.T850T,EGFR:NM_005228:exon23:c.T2709C:p.T903T |
RS1140475 |
Irritible bowel
syndrome:Transmission distortion:Years of education:College completion:Aortic
valve calcium |
|
7 |
55459563 |
1 |
LANCL2 |
A |
G |
exonic |
synonymous SNV |
LANCL2:NM_018697:exon2:c.A282G:p.T94T |
RS2049497 |
Urinary albumin-to-creatinine
ratio:Obesity with early age of onset (age >2) |
|
7 |
56079465 |
1 |
PSPH |
A |
G |
exonic |
nonsynonymous SNV |
PSPH:NM_004577:exon8:c.T668C:p.L223P |
|
7 |
56088811 |
1 |
PSPH |
T |
C |
exonic |
nonsynonymous SNV |
PSPH:NM_004577:exon4:c.A95G:p.D32G |
|
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 |
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 |
64863833 |
1 |
ZNF92 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF92:NM_001287534:exon2:c.C578G:p.S193C,ZNF92:NM_001287532:exon3:c.C710G:p.S237C,ZNF92:NM_007139:exon3:c.C599G:p.S200C,ZNF92:NM_152626:exon4:c.C806G:p.S269C,ZNF92:NM_001287533:exon5:c.C578G:p.S193C |
|
7 |
73020301 |
2 |
MLXIPL |
T |
C |
exonic |
synonymous SNV |
MLXIPL:NM_032951:exon6:c.A759G:p.S253S,MLXIPL:NM_032952:exon6:c.A759G:p.S253S,MLXIPL:NM_032953:exon6:c.A759G:p.S253S,MLXIPL:NM_032954:exon6:c.A759G:p.S253S |
RS799157 |
Total
cholesterol:Triglycerides:Salmonella-induced pyroptosis |
|
7 |
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 |
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 |
75959188 |
1 |
YWHAG |
G |
A |
exonic |
synonymous SNV |
YWHAG:NM_012479:exon2:c.C450T:p.S150S |
|
7 |
76112060 |
1 |
DTX2 |
C |
T |
exonic |
synonymous SNV |
DTX2:NM_001102596:exon2:c.C504T:p.F168F,DTX2:NM_001102595:exon3:c.C504T:p.F168F,DTX2:NM_001102594:exon4:c.C504T:p.F168F,DTX2:NM_020892:exon5:c.C504T:p.F168F |
RS1638074 |
2 hour glucose:Height:Systolic
blood pressure (SBP):Diastolic blood pressure (DBP):Adiponectin levels |
|
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 |
77648731 |
2 |
MAGI2 |
C |
G |
exonic |
synonymous SNV |
MAGI2:NM_001301128:exon21:c.G4227C:p.P1409P,MAGI2:NM_012301:exon22:c.G4269C:p.P1423P |
|
7 |
86800351 |
2 |
DMTF1 |
A |
G |
exonic |
synonymous SNV |
DMTF1:NM_001142326:exon4:c.A9G:p.A3A,DMTF1:NM_001142327:exon5:c.A273G:p.A91A,DMTF1:NM_021145:exon7:c.A273G:p.A91A |
RS3747807 |
Eye color:Differential exon level
expression of DMTF1 [probe 3011273] in brain cortex:Differential exon level
expression of DMTF1 [probe 3011273] in peripheral blood mononuclear cells:HDL
cholesterol:Gene expression of TP53AP1 in peripheral blood monocytes:Triglycerides:Body
mass index (BMI):Gene expression of DMTF1///C7orf23 in blood |
|
7 |
89861890 |
2 |
STEAP2 |
G |
T |
exonic |
nonsynonymous SNV |
STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I |
RS194525 |
Fasting blood glucose:HDL
cholesterol change with statins:Partial epilepsy:Birth weight:Gene expression
of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease
samples:Years of education:Gene expression of STEAP2 in normal prepouch ileum:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum
in Alzheimer's disease cases and controls:Aortic valve calcium:Gene
expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's
disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum
in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID
ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in
cerebellum in Alzheimer's disease cases and controls |
|
7 |
89983808 |
2 |
GTPBP10 |
T |
G |
exonic |
nonsynonymous SNV |
GTPBP10:NM_033107:exon3:c.T264G:p.C88W |
RS42663 |
Fasting blood glucose:HDL
cholesterol change with statins:Methylation levels at chr7:89678667-89678717
[hg18 coord, probe cg27626102] in Cerebellum:Triglycerides:Aortic valve
calcium:Birth weight |
|
7 |
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 |
92131289 |
2 |
PEX1 |
G |
T |
exonic |
synonymous SNV |
PEX1:NM_001282677:exon13:c.C2160A:p.G720G,PEX1:NM_000466:exon14:c.C2331A:p.G777G,PEX1:NM_001282678:exon14:c.C1707A:p.G569G |
|
7 |
92970847 |
2 |
VPS50 |
C |
T |
exonic |
synonymous SNV |
VPS50:NM_017667:exon23:c.C2167T:p.L723L,VPS50:NM_001257998:exon24:c.C2077T:p.L693L |
RS2106432 |
HOMA-B:Asthma:Gene expression of
SAMD9L in blood |
|
7 |
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 |
100732321 |
1 |
TRIM56 |
C |
T |
exonic |
synonymous SNV |
TRIM56:NM_030961:exon3:c.C1728T:p.N576N |
|
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 |
102246394 |
1 |
RASA4;RASA4B |
A |
G |
exonic |
synonymous SNV |
RASA4:NM_001079877:exon5:c.T339C:p.D113D,RASA4B:NM_001277335:exon5:c.T339C:p.D113D,RASA4:NM_006989:exon5:c.T339C:p.D113D |
|
7 |
102401776 |
1 |
FAM185A |
T |
G |
exonic |
synonymous SNV |
FAM185A:NM_001145269:exon3:c.T360G:p.G120G,FAM185A:NM_001145268:exon4:c.T711G:p.G237G,FAM185A:NM_001350987:exon4:c.T711G:p.G237G |
|
7 |
112102355 |
1 |
IFRD1 |
T |
G |
exonic |
synonymous SNV |
IFRD1:NM_001197079:exon8:c.T678G:p.S226S,IFRD1:NM_001197080:exon8:c.T678G:p.S226S,IFRD1:NM_001550:exon8:c.T828G:p.S276S,IFRD1:NM_001007245:exon9:c.T828G:p.S276S |
RS2253962 |
Waist hip ratio |
|
7 |
112112279 |
1 |
IFRD1 |
G |
A |
exonic |
synonymous SNV |
IFRD1:NM_001197079:exon10:c.G897A:p.R299R,IFRD1:NM_001197080:exon10:c.G897A:p.R299R,IFRD1:NM_001550:exon10:c.G1047A:p.R349R,IFRD1:NM_001007245:exon11:c.G1047A:p.R349R |
RS2074796 |
Waist hip ratio:Gene expression of
C7orf53 (ENSG00000181016) in dendritic cells treated with Mycobacterium
tuberculosis |
|
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 |
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 |
128484816 |
2 |
FLNC |
A |
G |
exonic |
synonymous SNV |
FLNC:NM_001127487:exon21:c.A3297G:p.V1099V,FLNC:NM_001458:exon21:c.A3297G:p.V1099V |
RS3734973 |
Autism:Attention-deficit/hyperactivity
disorder (ADHD) |
|
7 |
128491603 |
1 |
FLNC |
T |
C |
exonic |
synonymous SNV |
FLNC:NM_001127487:exon34:c.T5664C:p.T1888T,FLNC:NM_001458:exon35:c.T5763C:p.T1921T |
|
7 |
128865130 |
1 |
AHCYL2 |
C |
T |
exonic |
synonymous SNV |
AHCYL2:NM_001130720:exon1:c.C213T:p.A71A,AHCYL2:NM_015328:exon1:c.C213T:p.A71A |
|
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 |
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 |
141750556 |
1 |
MGAM |
T |
C |
exonic |
synonymous SNV |
MGAM:NM_004668:exon24:c.T2697C:p.F899F |
|
7 |
141750579 |
1 |
MGAM |
C |
T |
exonic |
nonsynonymous SNV |
MGAM:NM_004668:exon24:c.C2720T:p.T907M |
|
7 |
141765234 |
1 |
MGAM |
G |
A |
exonic |
synonymous SNV |
MGAM:NM_004668:exon38:c.G4584A:p.T1528T |
|
7 |
141765240 |
1 |
MGAM |
A |
G |
exonic |
synonymous SNV |
MGAM:NM_004668:exon38:c.A4590G:p.A1530A |
|
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 |
148963948 |
1 |
ZNF783 |
T |
C |
exonic |
synonymous SNV |
ZNF783:NM_001195220:exon3:c.T459C:p.S153S |
|
7 |
148963953 |
1 |
ZNF783 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF783:NM_001195220:exon3:c.T464A:p.L155Q |
|
7 |
149152770 |
2 |
ZNF777 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF777:NM_015694:exon2:c.T344C:p.V115A |
RS3735319 |
Hip bone mineral density
(BMD):Longstanding arthritis:HOMA-B:Fasting insulin:LDL cholesterol:Total
cholesterol:Lp-PLA2 activity:Total cholesterol:Triglycerides:LDL
cholesterol:Body mass index (BMI):Gene expression of ZNF767 in blood:Gene
expression of ZNF746 in blood:Adiponectin levels:Years of
education:Hypertension (early onset hypertension) |
|
7 |
149152906 |
2 |
ZNF777 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF777:NM_015694:exon2:c.C208T:p.R70W |
RS3735318 |
LDL cholesterol:Lp-PLA2
activity:Total cholesterol:Triglycerides:LDL cholesterol:Years of
education:Hypertension (early onset hypertension):Adiponectin levels |
|
7 |
149427409 |
2 |
KRBA1 |
T |
G |
exonic |
unknown |
UNKNOWN |
|
7 |
149559273 |
1 |
ZNF862 |
C |
T |
exonic |
synonymous SNV |
ZNF862:NM_001099220:exon7:c.C3024T:p.L1008L |
|
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 |
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 |
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 |
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 |
151216586 |
1 |
RHEB |
G |
T |
exonic |
synonymous SNV |
RHEB:NM_005614:exon1:c.C12A:p.S4S |
|
7 |
155531080 |
2 |
RBM33 |
A |
G |
exonic |
nonsynonymous SNV |
RBM33:NM_053043:exon11:c.A1720G:p.T574A |
RS3735576 |
Gene expression of RBM33 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 |
158672476 |
2 |
WDR60 |
C |
G |
exonic |
nonsynonymous SNV |
WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K |
RS2709859 |
Aortic valve calcium |
|
8 |
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 |
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 |
8747894 |
2 |
MFHAS1 |
A |
G |
exonic |
nonsynonymous SNV |
MFHAS1:NM_004225:exon1:c.T2675C:p.L892P |
RS429433 |
Hip bone mineral density
(BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL
cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine
ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity
with early age of onset (age >2):Birth weight |
|
8 |
8860620 |
2 |
ERI1 |
T |
C |
exonic |
nonsynonymous SNV |
ERI1:NM_153332:exon1:c.T47C:p.L16P |
RS2288672 |
Serum creatinine:Triglycerides:Waist
hip ratio |
|
8 |
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 |
12957475 |
2 |
DLC1 |
C |
T |
exonic |
nonsynonymous SNV |
DLC1:NM_001348084:exon4:c.G838A:p.V280M,DLC1:NM_001164271:exon5:c.G838A:p.V280M,DLC1:NM_001316668:exon5:c.G1162A:p.V388M,DLC1:NM_001348083:exon5:c.G838A:p.V280M,DLC1:NM_006094:exon5:c.G1060A:p.V354M,DLC1:NM_001348082:exon8:c.G838A:p.V280M,DLC1:NM_001348081:exon9:c.G2371A:p.V791M,DLC1:NM_182643:exon9:c.G2371A:p.V791M |
RS532841 |
HDL cholesterol:Total
cholesterol:HDL cholesterol:LDL cholesterol:Gene expression of DLC1 in
liver:Comorbid depressive syndrome and alcohol dependence:Variant
Creutzfeldt-Jakob disease:Obesity with early age of onset (age
>2):Hypertension (early onset hypertension):Advanced age-related macular
degeneration (geographic atrophy) |
|
8 |
13425353 |
2 |
C8orf48 |
T |
A |
exonic |
nonsynonymous SNV |
C8orf48:NM_001007090:exon1:c.T853A:p.L285M |
|
8 |
17739538 |
2 |
FGL1 |
T |
C |
exonic |
nonsynonymous SNV |
FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V |
RS3739406 |
Height:Body mass index (BMI):Aortic
valve calcium |
|
8 |
17849186 |
1 |
PCM1;PCM1 |
G |
A |
exonic;splicing |
nonsynonymous SNV |
PCM1:NM_001315508:exon27:c.G4505A:p.G1502D,PCM1:NM_006197:exon28:c.G4667A:p.G1556D |
|
8 |
17849187 |
1 |
PCM1;PCM1 |
T |
A |
exonic;splicing |
synonymous SNV |
PCM1:NM_001315508:exon27:c.T4506A:p.G1502G,PCM1:NM_006197:exon28:c.T4668A:p.G1556G |
|
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 |
22481449 |
2 |
BIN3 |
A |
G |
exonic |
synonymous SNV |
BIN3:NM_018688:exon8:c.T594C:p.F198F |
RS1871900 |
Gene expression of PDLIM2 in brain
cortex:Gene expression of PDLIM2 probe [GI_40288186-A] in brain cortex with
no Alzheimer's interaction:HOMA-IR:Fasting
insulin:HOMA-B:Triglycerides:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD:Obesity with early age of onset
(age >2):Advanced age-related macular degeneration:Lymphocyte count |
|
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 |
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 |
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 |
27315900 |
2 |
PTK2B |
A |
G |
exonic |
synonymous SNV |
PTK2B:NM_173175:exon30:c.A2778G:p.L926L,PTK2B:NM_173176:exon31:c.A2904G:p.L968L,PTK2B:NM_004103:exon32:c.A2904G:p.L968L,PTK2B:NM_173174:exon36:c.A2904G:p.L968L |
RS1879181 |
Arthritis including
non-Rheumatoid:Differential exon level expression of PTK2B [probe 3091368] in
peripheral blood mononuclear cells:Differential exon level expression of
PTK2B [probe 3091368] in brain cortex:Diastolic blood pressure (DBP):Gene
expression of PTK2B in normal prepouch ileum |
|
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 |
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 |
30608976 |
2 |
UBXN8 |
C |
T |
exonic |
unknown |
UNKNOWN |
|
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 |
37699195 |
2 |
ADGRA2 |
C |
G |
exonic |
synonymous SNV |
ADGRA2:NM_032777:exon19:c.C3339G:p.G1113G |
|
8 |
37699516 |
2 |
ADGRA2 |
C |
T |
exonic |
synonymous SNV |
ADGRA2:NM_032777:exon19:c.C3660T:p.G1220G |
RS7010546 |
Triglycerides:LDL cholesterol:LDL
cholesterol change with statins:Obesity with early age of onset (age
>2):Birth weight |
|
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 |
40011079 |
2 |
C8orf4 |
G |
A |
exonic |
nonsynonymous SNV |
C8orf4:NM_020130:exon1:c.G28A:p.V10I |
|
8 |
43054553 |
2 |
HGSNAT |
T |
C |
exonic |
synonymous SNV |
HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y |
|
8 |
48885436 |
2 |
MCM4 |
T |
A |
exonic |
nonsynonymous SNV |
MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M |
RS762679 |
Serum creatinine:Waist hip
ratio:Infant head circumference:Obesity with early age of onset (age >2) |
|
8 |
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 |
61765560 |
1 |
CHD7 |
G |
A |
exonic |
synonymous SNV |
CHD7:NM_017780:exon31:c.G6276A:p.E2092E |
RS2068096 |
Triglycerides change with
statins:Adiponectin levels |
|
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 |
90967711 |
2 |
NBN |
A |
G |
exonic |
synonymous SNV |
NBN:NM_002485:exon10:c.T1197C:p.D399D,NBN:NM_001024688:exon11:c.T951C:p.D317D |
RS709816 |
Autism with low IQ |
|
8 |
101252680 |
2 |
SPAG1 |
T |
C |
exonic |
nonsynonymous SNV |
SPAG1:NM_003114:exon18:c.T2330C:p.M777T,SPAG1:NM_172218:exon18:c.T2330C:p.M777T |
RS6511 |
Fasting blood glucose:Lp-PLA2
mass:Triglycerides:Height:Infant head circumference |
|
8 |
119964052 |
2 |
TNFRSF11B |
G |
C |
exonic |
nonsynonymous SNV |
TNFRSF11B:NM_002546:exon1:c.C9G:p.N3K |
RS2073618 |
Lumbar spine bone mineral density
(BMD):Lumbar spine bone mineral density (BMD) (females):Lumbar spine bone
mineral density (BMD) (males):Chronic kidney disease:Urinary
albumin-to-creatinine ratio:Severe statin-induced myopathy |
|
8 |
120596023 |
2 |
ENPP2 |
A |
G |
exonic |
nonsynonymous SNV |
ENPP2:NM_001040092:exon17:c.T1477C:p.S493P,ENPP2:NM_001130863:exon17:c.T1477C:p.S493P,ENPP2:NM_001330600:exon17:c.T1465C:p.S489P,ENPP2:NM_006209:exon18:c.T1633C:p.S545P |
RS10283100 |
Height |
|
8 |
121530190 |
2 |
MTBP |
A |
G |
exonic |
synonymous SNV |
MTBP:NM_022045:exon19:c.A2346G:p.E782E |
RS13258848 |
HOMA-IR:Cystatin C in
serum:Comorbid depressive syndrome and alcohol dependence:Gene expression of
MTBP (probeID ILMN_1660222) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of MTBP (probeID ILMN_1660222) in temporal cortex in
Alzheimer's disease cases and controls:Years of education |
|
8 |
124440174 |
2 |
WDYHV1 |
A |
G |
exonic |
nonsynonymous SNV |
WDYHV1:NM_018024:exon2:c.A94G:p.I32V |
RS6999234 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe
219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of NP_060494.1 in blood cells in Celiac
disease:Differential exon level expression of C8orf32 [probe 3114248] in
peripheral blood mononuclear cells:Gene expression of C8orf32 [probe
ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of
C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+
lymphocytes:Height:Neuroblastoma (brain cancer):Gene expression of C8orf32
[probe ILMN_574] in osteoblasts treated with PGE2:Gene expression of C8orf32
[probe ILMN_574] in untreated osteoblasts:Gene expression of C8orf32 [probe
ILMN_574] in osteoblasts treated with dexamethasone:Rheumatoid arthritis:Gene
expression of WDYHV1 in blood:Adiponectin levels |
|
8 |
124448736 |
2 |
WDYHV1 |
A |
G |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon4:c.A98G:p.N33S,WDYHV1:NM_018024:exon4:c.A278G:p.N93S,WDYHV1:NM_001283027:exon5:c.A74G:p.N25S |
RS7014678 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe
219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of NP_060494.1 in blood cells in Celiac
disease:Differential exon level expression of C8orf32 [probe 3114248] in
peripheral blood mononuclear cells:Gene expression of C8orf32 [probe
ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of
C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+
lymphocytes:Height:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts
treated with BMP2:Rheumatoid arthritis:Gene expression of WDYHV1 in
blood:Adiponectin levels |
|
8 |
124448804 |
2 |
WDYHV1 |
T |
A |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon4:c.T166A:p.F56I,WDYHV1:NM_018024:exon4:c.T346A:p.F116I,WDYHV1:NM_001283027:exon5:c.T142A:p.F48I |
RS6470147 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides change with
statins:Gene expression of C8orf32 in Temporal cortex:LDL
cholesterol:Height:Adiponectin levels |
|
8 |
124449466 |
2 |
WDYHV1 |
C |
T |
exonic |
nonsynonymous SNV |
WDYHV1:NM_001283024:exon5:c.C220T:p.R74C,WDYHV1:NM_018024:exon5:c.C400T:p.R134C,WDYHV1:NM_001283027:exon6:c.C196T:p.R66C |
RS3824250 |
Gene expression of FLJ10204 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe
219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene
expression of NP_060494.1 in blood cells in Celiac disease:Differential exon
level expression of C8orf32 [probe 3114248] in peripheral blood mononuclear
cells:Gene expression of C8orf32 [probe ILMN_574] in
osteoblasts:Triglycerides change with statins:Gene expression of C8orf32 in
Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+
lymphocytes:Height:Neuroblastoma (brain cancer):Rheumatoid arthritis:Gene
expression of WDYHV1 in blood:Adiponectin levels |
|
8 |
124525483 |
1 |
FBXO32 |
C |
T |
exonic |
synonymous SNV |
FBXO32:NM_148177:exon3:c.G171A:p.T57T,FBXO32:NM_058229:exon6:c.G606A:p.T202T |
RS3739287 |
Hip bone mineral density
(BMD):Alzheimer's disease:LDL cholesterol:Urinary albumin-to-creatinine ratio |
|
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 |
125463250 |
2 |
TRMT12 |
T |
C |
exonic |
nonsynonymous SNV |
TRMT12:NM_017956:exon1:c.T82C:p.W28R |
RS3812475 |
Gene expression of TRMT12 in blood
cells in Celiac disease:Schizophrenia:Premature ovarian failure:Fasting blood
glucose:Gene expression of TRMT12 in CD4+ lymphocytes:Waist hip ratio:Gene
expression of TRMT12 in blood:Gene expression of TRMT12 [probeset 219299_at]
in sputum:Bipolar disorder |
|
8 |
125463544 |
2 |
TRMT12 |
T |
C |
exonic |
synonymous SNV |
TRMT12:NM_017956:exon1:c.T376C:p.L126L |
|
8 |
125498547 |
2 |
RNF139 |
C |
T |
exonic |
synonymous SNV |
RNF139:NM_007218:exon2:c.C657T:p.Y219Y |
RS3812471 |
Gene expression of TRMT12 in blood
cells in Celiac disease:Schizophrenia:Gene expression of TRMT12 in T
cells:Fasting blood glucose:Gene expression of TRMT12 in peripheral blood
monocytes:LDL cholesterol:Gene expression of TRMT12 in CD4+ lymphocytes:Gene
expression of TRMT12 in blood:Gene expression of TRMT12 [probeset 219299_at]
in sputum:Bipolar disorder |
|
8 |
132971883 |
1 |
EFR3A |
C |
T |
exonic |
synonymous SNV |
EFR3A:NM_001323553:exon8:c.C720T:p.C240C,EFR3A:NM_001323554:exon8:c.C720T:p.C240C,EFR3A:NM_001323555:exon8:c.C720T:p.C240C,EFR3A:NM_001323556:exon8:c.C720T:p.C240C,EFR3A:NM_001323557:exon8:c.C720T:p.C240C,EFR3A:NM_001323558:exon8:c.C828T:p.C276C,EFR3A:NM_015137:exon8:c.C828T:p.C276C |
|
8 |
134474148 |
2 |
ST3GAL1 |
C |
T |
exonic |
synonymous SNV |
ST3GAL1:NM_003033:exon8:c.G819A:p.S273S,ST3GAL1:NM_173344:exon9:c.G819A:p.S273S |
RS1048479 |
Major depressive disorder (broad
definition):Major depressive disorder (broad definition) (females):HDL
cholesterol change with statins:HDL cholesterol:Waist hip ratio |
|
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 |
142200467 |
2 |
DENND3 |
G |
A |
exonic |
synonymous SNV |
DENND3:NM_014957:exon20:c.G3090A:p.P1030P |
|
8 |
142204326 |
2 |
DENND3 |
C |
G |
exonic |
synonymous SNV |
DENND3:NM_014957:exon23:c.C3591G:p.G1197G |
RS1045248 |
Gene expression of KIAA0870 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:HDL
cholesterol:Mitral annular calcium |
|
8 |
142222374 |
2 |
SLC45A4 |
A |
G |
exonic |
synonymous SNV |
SLC45A4:NM_001080431:exon7:c.T2070C:p.G690G,SLC45A4:NM_001286646:exon7:c.T2223C:p.G741G,SLC45A4:NM_001286648:exon7:c.T2070C:p.G690G |
|
8 |
142222445 |
2 |
SLC45A4 |
T |
C |
exonic |
nonsynonymous SNV |
SLC45A4:NM_001080431:exon7:c.A1999G:p.N667D,SLC45A4:NM_001286646:exon7:c.A2152G:p.N718D,SLC45A4:NM_001286648:exon7:c.A1999G:p.N667D |
RS3739238 |
Gene expression of SLC45A4 in
blood:Gene expression of DENND3 in blood:Birth weight:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Docetaxel
response in lymphoblastoid cell lines:Gene expression of SLC45A4 in normal prepouch
ileum |
|
8 |
142228809 |
2 |
SLC45A4 |
T |
C |
exonic |
synonymous SNV |
SLC45A4:NM_001080431:exon4:c.A777G:p.A259A,SLC45A4:NM_001286646:exon4:c.A930G:p.A310A,SLC45A4:NM_001286648:exon4:c.A777G:p.A259A |
RS753779 |
Gene expression of SLC45A4 in
blood:Gene expression of DENND3 in blood:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Birth weight |
|
8 |
142229891 |
2 |
SLC45A4 |
A |
G |
exonic |
synonymous SNV |
SLC45A4:NM_001080431:exon3:c.T315C:p.I105I,SLC45A4:NM_001286646:exon3:c.T468C:p.I156I,SLC45A4:NM_001286648:exon3:c.T315C:p.I105I |
RS2304279 |
Birth weight |
|
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 |
144378184 |
2 |
ZNF696 |
C |
G |
exonic |
synonymous SNV |
ZNF696:NM_030895:exon3:c.C339G:p.G113G |
|
8 |
144671244 |
2 |
EEF1D |
C |
A |
exonic |
synonymous SNV |
EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,EEF1D:NM_032378:exon3:c.G1008T:p.R336R |
|
8 |
144671685 |
2 |
EEF1D |
G |
C |
exonic |
nonsynonymous SNV |
EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E |
|
8 |
144671922 |
2 |
EEF1D |
G |
A |
exonic |
synonymous SNV |
EEF1D:NM_001130053:exon3:c.C330T:p.R110R,EEF1D:NM_032378:exon3:c.C330T:p.R110R |
RS3812448 |
Gene expression of NAPRT1 [probe
226707_at] in lymphoblastoid cell lines:Methylation levels at
chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Cerebellum:Gene
expression of NAPRT1 in Frontal cortex:Gene expression of NAPRT1 in Caudal
pons:Gene expression of NAPRT1 in Temporal cortex:Microalbuminuria:Infant
head circumference:Gene expression of NAPRT1 (probeID ILMN_1710752) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
NAPRT1 (probeID ILMN_1710752) in whole blood:Gene expression of NAPRT1
(probeID ILMN_1710752) in cerebellum in Alzheimer's disease cases and
controls |
|
8 |
144681777 |
2 |
TIGD5 |
G |
T |
exonic |
nonsynonymous SNV |
TIGD5:NM_032862:exon1:c.G1704T:p.M568I |
RS10282929 |
Gene expression of FLJ12150 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of PP3856 in
CEU-CHB-JPT lymphoblastoid cell lines:Complex transcript isoform variation of
NAPRT1 in lymphoblastoid cell lines:Methylation levels at chr8:144732194-144732244
[hg18 coord, probe cg15537850] in Cerebellum:Methylation levels at
chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Caudal pons:Gene
expression of NAPRT1 in Temporal cortex:Gene expression of NAPRT1 in Caudal
pons:Gene expression of NAPRT1 in Cerebellum:Gene expression of NAPRT1 in
Frontal cortex:NAPRT1 gene expression:Gene expression of NAPRT1 (probeID
ILMN_1710752) in whole blood:Birth weight:Gene expression of LOC286076
(ENSG00000181097) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of NAPRT1 (probeID ILMN_1710752) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of NAPRT1 (probeID
ILMN_1710752) in temporal cortex in Alzheimer's disease cases and controls |
|
8 |
144732363 |
2 |
ZNF623 |
T |
C |
exonic |
synonymous SNV |
ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N |
|
8 |
144732418 |
2 |
ZNF623 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D |
|
8 |
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 |
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 |
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 |
145160646 |
2 |
MAF1 |
T |
C |
exonic |
synonymous SNV |
MAF1:NM_032272:exon2:c.T60C:p.T20T |
|
8 |
145535881 |
2 |
HSF1 |
C |
A |
exonic |
nonsynonymous SNV |
HSF1:NM_005526:exon9:c.C1093A:p.P365T |
|
8 |
145661320 |
2 |
TONSL |
G |
A |
exonic |
synonymous SNV |
TONSL:NM_013432:exon17:c.C2496T:p.A832A |
|
8 |
145661675 |
2 |
TONSL |
G |
A |
exonic |
nonsynonymous SNV |
TONSL:NM_013432:exon17:c.C2141T:p.A714V |
RS7830832 |
Longstanding arthritis:Arthritis
including non-Rheumatoid:Gene expression of VPS28 in blood cells in Celiac
disease:Autism with high IQ:Gene expression of ADCK5 in blood:Gene expression
of PPP1R16A///GPT in blood:Gene expression of ADCK5///CPSF1///hsa-mir in
blood:Gene expression of LRRC14///LRRC24 in blood:Gene expression of VPS28 in
blood:Gene expression of CPSF1 in normal prepouch ileum:Paternal transmission
distortion:Transmission distortion |
|
8 |
145665516 |
2 |
TONSL |
T |
C |
exonic |
synonymous SNV |
TONSL:NM_013432:exon11:c.A1368G:p.L456L |
|
8 |
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 |
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 |
1 |
|
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 |
2191309 |
2 |
SMARCA2 |
C |
G |
exonic |
nonsynonymous SNV |
SMARCA2:NM_001289398:exon6:c.C612G:p.D204E,SMARCA2:NM_001289399:exon7:c.C696G:p.D232E,SMARCA2:NM_001289400:exon7:c.C702G:p.D234E,SMARCA2:NM_001289397:exon32:c.C4410G:p.D1470E,SMARCA2:NM_139045:exon32:c.C4584G:p.D1528E,SMARCA2:NM_001289396:exon33:c.C4638G:p.D1546E,SMARCA2:NM_003070:exon33:c.C4638G:p.D1546E |
RS2296212 |
Obesity with early age of onset (age
>2):College completion |
|
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 |
13112116 |
2 |
MPDZ |
A |
G |
exonic |
synonymous SNV |
MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I,MPDZ:NM_001330637:exon43:c.T5631C:p.I1877I |
|
9 |
17342383 |
2 |
CNTLN |
C |
T |
exonic |
synonymous SNV |
CNTLN:NM_017738:exon12:c.C1827T:p.D609D |
|
9 |
20866974 |
2 |
FOCAD |
C |
G |
exonic |
nonsynonymous SNV |
FOCAD:NM_017794:exon20:c.C2153G:p.T718S |
|
9 |
33798017 |
2 |
PRSS3 |
A |
G |
exonic |
nonsynonymous SNV |
PRSS3:NM_001197098:exon3:c.A370G:p.T124A,PRSS3:NM_002771:exon3:c.A391G:p.T131A,PRSS3:NM_007343:exon3:c.A562G:p.T188A,PRSS3:NM_001197097:exon4:c.A433G:p.T145A |
|
9 |
33927899 |
2 |
UBAP2 |
G |
A |
exonic |
nonsynonymous SNV |
UBAP2:NM_001282529:exon16:c.C1466T:p.A489V,UBAP2:NM_018449:exon20:c.C2267T:p.A756V |
|
9 |
34372783 |
2 |
KIAA1161 |
G |
C |
exonic |
unknown |
UNKNOWN |
|
9 |
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 |
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 |
37782111 |
1 |
EXOSC3 |
C |
T |
exonic |
synonymous SNV |
EXOSC3:NM_016042:exon3:c.G498A:p.Q166Q |
|
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 |
71843023 |
2 |
TJP2 |
C |
A |
exonic |
nonsynonymous SNV |
TJP2:NM_001170415:exon9:c.C1458A:p.D486E,TJP2:NM_001170416:exon9:c.C1539A:p.D513E,TJP2:NM_004817:exon9:c.C1446A:p.D482E,TJP2:NM_201629:exon9:c.C1446A:p.D482E,TJP2:NM_001170414:exon10:c.C1377A:p.D459E |
RS2309428 |
Fasting blood glucose:Nonalcoholic
fatty liver disease (Alanine aminotransferase (ALT)):Nonalcoholic fatty liver
disease (Aspartate aminotransferase (AST)) |
|
9 |
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 |
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 |
80919756 |
2 |
PSAT1 |
T |
G |
exonic |
synonymous SNV |
PSAT1:NM_021154:exon4:c.T297G:p.A99A,PSAT1:NM_058179:exon4:c.T297G:p.A99A |
RS3739474 |
LDL cholesterol:HDL cholesterol:Male
fertility (birth rate):Male fertility (family size) |
|
9 |
84267147 |
2 |
TLE1 |
T |
C |
exonic |
synonymous SNV |
TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E |
RS2228173 |
Years of education |
|
9 |
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 |
86498846 |
1 |
KIF27 |
A |
G |
exonic |
nonsynonymous SNV |
KIF27:NM_001271927:exon10:c.T2327C:p.I776T,KIF27:NM_001271928:exon10:c.T2327C:p.I776T,KIF27:NM_017576:exon10:c.T2327C:p.I776T |
|
9 |
86498848 |
1 |
KIF27 |
C |
T |
exonic |
synonymous SNV |
KIF27:NM_001271927:exon10:c.G2325A:p.L775L,KIF27:NM_001271928:exon10:c.G2325A:p.L775L,KIF27:NM_017576:exon10:c.G2325A:p.L775L |
|
9 |
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 |
90321583 |
2 |
DAPK1 |
C |
T |
exonic |
synonymous SNV |
DAPK1:NM_001288729:exon26:c.C3597T:p.R1199R,DAPK1:NM_001288730:exon26:c.C3597T:p.R1199R,DAPK1:NM_001288731:exon26:c.C3597T:p.R1199R,DAPK1:NM_004938:exon26:c.C3597T:p.R1199R |
RS3118863 |
Triglycerides change with
statins:Urinary albumin-to-creatinine ratio:Advanced age-related macular
degeneration (geographic atrophy) |
|
9 |
90322023 |
2 |
DAPK1 |
G |
A |
exonic |
nonsynonymous SNV |
DAPK1:NM_001288729:exon26:c.G4037A:p.S1346N,DAPK1:NM_001288730:exon26:c.G4037A:p.S1346N,DAPK1:NM_001288731:exon26:c.G4037A:p.S1346N,DAPK1:NM_004938:exon26:c.G4037A:p.S1346N |
RS1056719 |
Alzheimer's disease:Autism with low
IQ:Gene expression of CTSL in CD4+ lymphocytes:Gene expression of C9orf79
[transcript NM_178828, probe A_24_P203244] in liver:Gene expression of CTSL1
in blood:Diastolic blood pressure (DBP):Resistance to kuru in aged women
despite likely exposure:Advanced age-related macular degeneration (geographic
atrophy) |
|
9 |
99581811 |
2 |
ZNF782 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF782:NM_001346993:exon4:c.G422A:p.R141H,ZNF782:NM_001346995:exon4:c.G98A:p.R33H,ZNF782:NM_001346991:exon5:c.G494A:p.R165H,ZNF782:NM_001001662:exon6:c.G494A:p.R165H |
RS4645656 |
Body mass index (BMI):Advanced
age-related macular degeneration (geographic atrophy):Years of education |
|
9 |
99581916 |
2 |
ZNF782 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF782:NM_001346993:exon4:c.G317C:p.R106P,ZNF782:NM_001346991:exon5:c.G389C:p.R130P,ZNF782:NM_001001662:exon6:c.G389C:p.R130P |
RS7870376 |
Body mass index (BMI):PROP taste
detection threshold:Years of education:Advanced age-related macular
degeneration (geographic atrophy) |
|
9 |
100395663 |
2 |
|
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 |
100971348 |
2 |
TBC1D2 |
T |
C |
exonic |
synonymous SNV |
TBC1D2:NM_001267572:exon3:c.A372G:p.A124A,TBC1D2:NM_001267571:exon9:c.A1752G:p.A584A,TBC1D2:NM_018421:exon9:c.A1752G:p.A584A |
|
9 |
101533220 |
2 |
ANKS6 |
C |
T |
exonic |
nonsynonymous SNV |
ANKS6:NM_173551:exon10:c.G1930A:p.V644I |
RS6415847 |
2 hour glucose:Breast cancer:Birth
weight |
|
9 |
102591042 |
2 |
NR4A3 |
A |
G |
exonic |
nonsynonymous SNV |
NR4A3:NM_006981:exon3:c.A718G:p.S240G,NR4A3:NM_173199:exon3:c.A718G:p.S240G,NR4A3:NM_173200:exon4:c.A751G:p.S251G |
|
9 |
103054951 |
2 |
INVS |
T |
C |
exonic |
synonymous SNV |
INVS:NM_001318382:exon14:c.T1434C:p.S478S,INVS:NM_014425:exon14:c.T2412C:p.S804S,INVS:NM_001318381:exon15:c.T2124C:p.S708S |
RS2787374 |
Triglycerides: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 |
114246395 |
2 |
KIAA0368 |
C |
T |
exonic |
synonymous SNV |
KIAA0368:NM_001080398:exon3:c.G426A:p.R142R |
|
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 |
116356516 |
2 |
RGS3 |
A |
G |
exonic |
nonsynonymous SNV |
RGS3:NM_144489:exon1:c.A317G:p.Y106C |
RS12341266 |
High-grade glioma:Partial
epilepsy:Asthma:Glioma:Systolic blood pressure (SBP):Diastolic blood pressure
(DBP):Hypertrophic cardiomyopathy |
|
9 |
117044751 |
2 |
COL27A1 |
T |
C |
exonic |
synonymous SNV |
COL27A1:NM_032888:exon39:c.T3786C:p.Y1262Y |
|
9 |
117186677 |
2 |
WHRN |
A |
G |
exonic |
synonymous SNV |
WHRN:NM_001346890:exon2:c.T300C:p.G100G,WHRN:NM_001083885:exon6:c.T204C:p.G68G,WHRN:NM_001173425:exon6:c.T1353C:p.G451G,WHRN:NM_015404:exon6:c.T1353C:p.G451G |
RS4979387 |
Chronic kidney disease:Cystatin C in
serum:Serum creatinine:HDL cholesterol:Triglycerides |
|
9 |
117188566 |
2 |
WHRN |
C |
T |
exonic |
nonsynonymous SNV |
WHRN:NM_001173425:exon4:c.G1091A:p.R364H,WHRN:NM_015404:exon4:c.G1091A:p.R364H |
|
9 |
123170733 |
2 |
CDK5RAP2 |
C |
G |
exonic |
nonsynonymous SNV |
CDK5RAP2:NM_001272039:exon28:c.G3928C:p.V1310L,CDK5RAP2:NM_001011649:exon31:c.G4618C:p.V1540L,CDK5RAP2:NM_018249:exon31:c.G4618C:p.V1540L |
RS4837768 |
Height |
|
9 |
126144758 |
2 |
DENND1A |
T |
C |
exonic |
synonymous SNV |
DENND1A:NM_020946:exon22:c.A1983G:p.S661S |
|
9 |
127674200 |
2 |
GOLGA1 |
A |
C |
exonic |
nonsynonymous SNV |
GOLGA1:NM_002077:exon11:c.T949G:p.L317V |
|
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 |
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 |
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 |
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 |
131196704 |
2 |
CERCAM |
G |
A |
exonic |
synonymous SNV |
CERCAM:NM_001286760:exon11:c.G1113A:p.K371K,CERCAM:NM_016174:exon11:c.G1347A:p.K449K |
|
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 |
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 |
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 |
133761001 |
2 |
ABL1 |
A |
G |
exonic |
synonymous SNV |
ABL1:NM_005157:exon11:c.A3324G:p.P1108P,ABL1:NM_007313:exon11:c.A3381G:p.P1127P |
|
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 |
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 |
135277210 |
1 |
TTF1 |
C |
T |
exonic |
synonymous SNV |
TTF1:NM_007344:exon2:c.G999A:p.K333K |
|
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 |
135974079 |
2 |
RALGDS |
G |
C |
exonic |
synonymous SNV |
RALGDS:NM_001042368:exon18:c.C2475G:p.L825L,RALGDS:NM_001271774:exon18:c.C2553G:p.L851L,RALGDS:NM_001271775:exon18:c.C2637G:p.L879L,RALGDS:NM_001271776:exon18:c.C2604G:p.L868L,RALGDS:NM_006266:exon18:c.C2640G:p.L880L |
RS1062356 |
HOMA-IR:Total cholesterol:HDL
cholesterol:HDL cholesterol change with statins:Height |
|
9 |
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 |
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 |
139222174 |
2 |
GPSM1 |
T |
C |
exonic |
nonsynonymous SNV |
GPSM1:NM_001145638:exon1:c.T23C:p.V8A,GPSM1:NM_015597:exon1:c.T23C:p.V8A |
|
9 |
139252495 |
2 |
GPSM1 |
G |
A |
exonic |
synonymous SNV |
GPSM1:NM_001145639:exon4:c.G324A:p.P108P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145638:exon14:c.G1851A:p.P617P |
RS3812547 |
Microalbuminuria:Gene expression of
CARD9 [transcript NM_052813, probe A_23_P500433] in liver |
|
9 |
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 |
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 |
140002989 |
2 |
MAN1B1 |
T |
C |
exonic |
synonymous SNV |
MAN1B1:NM_016219:exon13:c.T2046C:p.D682D |
|
9 |
140006425 |
2 |
DPP7 |
C |
G |
exonic |
synonymous SNV |
DPP7:NM_013379:exon10:c.G1107C:p.P369P |
|
9 |
140008750 |
2 |
DPP7 |
G |
C |
exonic |
nonsynonymous SNV |
DPP7:NM_013379:exon3:c.C266G:p.A89G |
|
9 |
140120396 |
2 |
CYSRT1 |
C |
T |
exonic |
nonsynonymous SNV |
CYSRT1:NM_199001:exon2:c.C443T:p.A148V |
|
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 |
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 |
3143643 |
2 |
PFKP |
A |
C |
exonic |
synonymous SNV |
PFKP:NM_001323067:exon4:c.A270C:p.R90R,PFKP:NM_001323068:exon4:c.A351C:p.R117R,PFKP:NM_001345944:exon4:c.A237C:p.R79R,PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001323071:exon5:c.A237C:p.R79R,PFKP:NM_001323072:exon5:c.A237C:p.R79R,PFKP:NM_001242339:exon6:c.A327C:p.R109R |
|
10 |
3180227 |
2 |
PITRM1 |
T |
C |
exonic |
nonsynonymous SNV |
PITRM1:NM_001242309:exon24:c.A2816G:p.Q939R,PITRM1:NM_001347725:exon25:c.A2912G:p.Q971R,PITRM1:NM_001347726:exon25:c.A2297G:p.Q766R,PITRM1:NM_001347730:exon25:c.A2888G:p.Q963R,PITRM1:NM_001242307:exon27:c.A3113G:p.Q1038R,PITRM1:NM_001347727:exon27:c.A2495G:p.Q832R,PITRM1:NM_001347728:exon27:c.A1805G:p.Q602R,PITRM1:NM_001347729:exon27:c.A3086G:p.Q1029R,PITRM1:NM_014889:exon27:c.A3110G:p.Q1037R |
RS6901 |
Triglycerides change with statins |
|
10 |
5139685 |
2 |
AKR1C3 |
G |
A |
exonic |
synonymous SNV |
AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K |
RS12387 |
Triglycerides:Total
cholesterol:Total cholesterol:LDL
cholesterol:Triglycerides:Height:Susceptibility to cytomegalovirus
infection:Obesity with early age of onset (age >2):Birth weight:College
completion |
|
10 |
5495218 |
2 |
NET1 |
T |
C |
exonic |
synonymous SNV |
NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y |
RS4567355 |
Abnormal Involuntary Movement Scale |
|
10 |
5781628 |
2 |
FAM208B |
T |
G |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon13:c.T1252G:p.C418G,FAM208B:NM_017782:exon13:c.T1495G:p.C499G,FAM208B:NM_001321783:exon14:c.T1495G:p.C499G,FAM208B:NM_001321784:exon14:c.T1495G:p.C499G |
RS2254067 |
Hip bone mineral density
(BMD):Arthritis including non-Rheumatoid:Longstanding
arthritis:Triglycerides:Differential exon level expression of C10orf18 [probe
3233383] in brain cortex:Differential exon level expression of C10orf18
[probe 3233383] in peripheral blood mononuclear cells:2 hour glucose:Urinary
albumin-to-creatinine ratio:Adiponectin levels:Transmission
distortion:College completion |
|
10 |
5781969 |
2 |
FAM208B |
A |
T |
exonic |
synonymous SNV |
FAM208B:NM_001321785:exon13:c.A1593T:p.T531T,FAM208B:NM_017782:exon13:c.A1836T:p.T612T,FAM208B:NM_001321783:exon14:c.A1836T:p.T612T,FAM208B:NM_001321784:exon14:c.A1836T:p.T612T |
RS2797486 |
Triglycerides:2 hour
glucose:Urinary albumin-to-creatinine ratio:Adiponectin levels:College
completion |
|
10 |
5788608 |
2 |
FAM208B |
G |
C |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon15:c.G2981C:p.R994P,FAM208B:NM_017782:exon15:c.G3224C:p.R1075P,FAM208B:NM_001321783:exon16:c.G3224C:p.R1075P,FAM208B:NM_001321784:exon16:c.G3224C:p.R1075P |
RS2797491 |
Triglycerides:2 hour glucose:Gene
expression of NAPRT1 in peripheral blood monocytes:Urinary
albumin-to-creatinine ratio:College completion:Adiponectin levels |
|
10 |
5790420 |
2 |
FAM208B |
T |
C |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon15:c.T4793C:p.V1598A,FAM208B:NM_017782:exon15:c.T5036C:p.V1679A,FAM208B:NM_001321783:exon16:c.T5036C:p.V1679A,FAM208B:NM_001321784:exon16:c.T5036C:p.V1679A |
|
10 |
5804531 |
2 |
FAM208B |
G |
A |
exonic |
nonsynonymous SNV |
FAM208B:NM_001321785:exon20:c.G6968A:p.S2323N,FAM208B:NM_017782:exon20:c.G7211A:p.S2404N,FAM208B:NM_001321783:exon21:c.G7211A:p.S2404N,FAM208B:NM_001321784:exon21:c.G7211A:p.S2404N |
RS2797501 |
Arthritis including
non-Rheumatoid:Differential exon level expression of C10orf18 [probe 3233383]
in peripheral blood mononuclear cells:Differential exon level expression of
C10orf18 [probe 3233383] in brain cortex:2 hour glucose:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Transmission distortion:Years of
education |
|
10 |
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 |
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 |
12131081 |
2 |
DHTKD1 |
T |
G |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon5:c.T814G:p.Y272D |
RS3740015 |
HDL
cholesterol:Schizophrenia:Asthma:Height:Gene expression of SEC61A2 in blood |
|
10 |
12143105 |
2 |
DHTKD1 |
C |
G |
exonic |
nonsynonymous SNV |
DHTKD1:NM_018706:exon10:c.C1821G:p.I607M |
|
10 |
12148259 |
2 |
DHTKD1 |
A |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.A1911C:p.P637P |
|
10 |
12148286 |
2 |
DHTKD1 |
T |
C |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon11:c.T1938C:p.F646F |
|
10 |
12149939 |
2 |
DHTKD1 |
C |
T |
exonic |
synonymous SNV |
DHTKD1:NM_018706:exon12:c.C2079T:p.I693I |
RS1722462 |
LDL cholesterol:Total
cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education |
|
10 |
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 |
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 |
25313818 |
2 |
THNSL1 |
C |
T |
exonic |
synonymous SNV |
THNSL1:NM_024838:exon3:c.C1666T:p.L556L |
RS7086282 |
Hip bone mineral density (BMD):Age
at death with kuru exposure:Birth weight |
|
10 |
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 |
29839864 |
2 |
SVIL |
A |
C |
exonic |
synonymous SNV |
SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_001323599:exon8:c.T489G:p.A163A,SVIL:NM_001323600:exon8:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A |
RS1270874 |
Type 2 diabetes:Eye color:Fasting
blood glucose:HDL cholesterol change with statins:Partial
epilepsy:Microalbuminuria:Urinary albumin-to-creatinine ratio |
|
10 |
30317826 |
2 |
JCAD |
A |
G |
exonic |
synonymous SNV |
JCAD:NM_020848:exon3:c.T1251C:p.Y417Y,JCAD:NM_001350001:exon4:c.T837C:p.Y279Y,JCAD:NM_001350021:exon4:c.T837C:p.Y279Y,JCAD:NM_001350022:exon4:c.T1251C:p.Y417Y |
RS7920682 |
Autism:Coronary artery disease (CAD) |
|
10 |
30317838 |
2 |
JCAD |
A |
G |
exonic |
synonymous SNV |
JCAD:NM_020848:exon3:c.T1239C:p.P413P,JCAD:NM_001350001:exon4:c.T825C:p.P275P,JCAD:NM_001350021:exon4:c.T825C:p.P275P,JCAD:NM_001350022:exon4:c.T1239C:p.P413P |
RS7920686 |
Autism:Coronary artery disease (CAD) |
|
10 |
33209266 |
2 |
ITGB1 |
G |
T |
exonic |
synonymous SNV |
ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G |
RS2230396 |
Salmonella-induced pyroptosis:Gene
expression of C10orf68 in normal prepouch ileum |
|
10 |
33552696 |
2 |
NRP1 |
A |
G |
exonic |
nonsynonymous SNV |
NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A |
|
10 |
34620220 |
2 |
PARD3 |
C |
T |
exonic |
synonymous SNV |
PARD3:NM_001184791:exon16:c.G2442A:p.S814S,PARD3:NM_001184790:exon17:c.G2397A:p.S799S,PARD3:NM_001184786:exon18:c.G2619A:p.S873S,PARD3:NM_001184788:exon18:c.G2529A:p.S843S,PARD3:NM_001184789:exon18:c.G2529A:p.S843S,PARD3:NM_001184794:exon18:c.G2529A:p.S843S,PARD3:NM_001184785:exon19:c.G2658A:p.S886S,PARD3:NM_001184787:exon19:c.G2667A:p.S889S,PARD3:NM_001184792:exon19:c.G2658A:p.S886S,PARD3:NM_001184793:exon19:c.G2565A:p.S855S,PARD3:NM_019619:exon19:c.G2667A:p.S889S |
RS3781128 |
Gene expression of PARD3 in
liver:Eye color:Biploar disorder (bipolar schizoaffective disorder):2 hour
glucose:Waist hip ratio:Systolic blood pressure (SBP):Adiponectin
levels:Mitral annular calcium:Coronary artery disease (CAD) |
|
10 |
34688287 |
2 |
PARD3 |
G |
A |
exonic |
synonymous SNV |
PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H |
|
10 |
35772402 |
2 |
CCNY |
G |
A |
exonic |
synonymous SNV |
CCNY:NM_145012:exon2:c.G225A:p.T75T,CCNY:NM_001282853:exon3:c.G63A:p.T21T,CCNY:NM_181698:exon4:c.G63A:p.T21T |
|
10 |
43281089 |
2 |
BMS1 |
T |
C |
exonic |
synonymous SNV |
BMS1:NM_014753:exon3:c.T336C:p.T112T |
|
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 |
43317530 |
1 |
BMS1 |
T |
C |
exonic |
synonymous SNV |
BMS1:NM_014753:exon19:c.T3030C:p.A1010A |
|
10 |
46959993 |
1 |
SYT15 |
A |
G |
exonic |
synonymous SNV |
SYT15:NM_181519:exon8:c.T1149C:p.F383F |
|
10 |
46967672 |
1 |
SYT15 |
C |
T |
exonic |
synonymous SNV |
SYT15:NM_031912:exon4:c.G405A:p.P135P,SYT15:NM_181519:exon4:c.G405A:p.P135P |
|
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 |
51361901 |
2 |
PARG |
T |
C |
exonic |
synonymous SNV |
PARG:NM_001303487:exon3:c.A957G:p.Q319Q,PARG:NM_001303486:exon4:c.A1035G:p.Q345Q,PARG:NM_001324381:exon4:c.A1035G:p.Q345Q,PARG:NM_003631:exon4:c.A1281G:p.Q427Q |
|
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 |
1 |
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 |
1 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E |
|
10 |
51363304 |
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 |
51363729 |
2 |
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 |
51370889 |
2 |
PARG |
T |
C |
exonic |
nonsynonymous SNV |
PARG:NM_001303489:exon1:c.A178G:p.R60G,PARG:NM_003631:exon1:c.A182G:p.Q61R |
|
10 |
51613231 |
1 |
TIMM23 |
T |
C |
exonic |
synonymous SNV |
TIMM23:NM_006327:exon3:c.A246G:p.G82G |
|
10 |
51613269 |
1 |
TIMM23 |
G |
A |
exonic |
nonsynonymous SNV |
TIMM23:NM_006327:exon3:c.C208T:p.R70W |
|
10 |
51623174 |
1 |
TIMM23 |
C |
A |
exonic |
nonsynonymous SNV |
TIMM23:NM_006327:exon1:c.G41T:p.G14V |
|
10 |
54074757 |
2 |
DKK1 |
A |
G |
exonic |
synonymous SNV |
DKK1:NM_012242:exon2:c.A318G:p.A106A |
RS2241529 |
HOMA-B:LDL cholesterol:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Infant head circumference:Allele-specific Expression Patterns in human
glioblastoma cell line U87MG |
|
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 |
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 |
70502288 |
2 |
CCAR1 |
G |
A |
exonic |
synonymous SNV |
CCAR1:NM_001282959:exon5:c.G435A:p.T145T,CCAR1:NM_001282960:exon5:c.G435A:p.T145T,CCAR1:NM_018237:exon6:c.G480A:p.T160T |
RS1300253 |
Hip bone mineral density (BMD):HDL
cholesterol change with statins:Late onset Alzheimer's disease:Bipolar
disorder in alcoholics:Bipolar disorder in non-alcoholics:Adiponectin levels |
|
10 |
70696713 |
2 |
DDX50 |
C |
T |
exonic |
synonymous SNV |
DDX50:NM_024045:exon12:c.C1617T:p.Y539Y |
RS5030895 |
Aortic valve calcium |
|
10 |
71018660 |
2 |
HKDC1 |
T |
C |
exonic |
nonsynonymous SNV |
HKDC1:NM_025130:exon15:c.T2161C:p.W721R |
|
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 |
72179746 |
2 |
EIF4EBP2 |
C |
T |
exonic |
synonymous SNV |
EIF4EBP2:NM_004096:exon2:c.C222T:p.H74H |
|
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 |
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 |
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 |
88993813 |
2 |
NUTM2A |
T |
A |
exonic |
nonsynonymous SNV |
NUTM2A:NM_001099338:exon7:c.T1985A:p.V662D |
|
10 |
89623901 |
2 |
PTEN |
G |
C |
exonic |
nonsynonymous SNV |
PTEN:NM_001304717:exon2:c.G194C:p.C65S |
|
10 |
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 |
91066769 |
2 |
IFIT2 |
C |
A |
exonic |
nonsynonymous SNV |
IFIT2:NM_001547:exon2:c.C1056A:p.D352E |
RS1727 |
HDL cholesterol:Gene expression of
TACR3 in peripheral blood monocytes:Partial epilepsy:Gene expression of LIPA
in blood:Gene expression of IFIT3///LIPA in blood:Comorbid depressive
syndrome and alcohol dependence:Aortic valve calcium |
|
10 |
91162497 |
2 |
IFIT1 |
A |
G |
exonic |
synonymous SNV |
IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K |
RS303211 |
Longstanding arthritis:Waist
circumference:Body mass index (BMI):Tourette's syndrome:Primary
rhegmatogenous retinal detachment |
|
10 |
91498127 |
2 |
KIF20B |
T |
C |
exonic |
nonsynonymous SNV |
KIF20B:NM_001284259:exon20:c.T3529C:p.C1177R,KIF20B:NM_016195:exon20:c.T3409C:p.C1137R |
RS1886996 |
LDL cholesterol:HDL cholesterol
change with statins:Lp-PLA2 mass:LDL cholesterol:Neuroblastoma (brain
cancer):Gene expression of KIF20B in blood:Sporadic Creutzfeldt-Jakob
disease:College completion:Salmonella-induced pyroptosis:Advanced age-related
macular degeneration |
|
10 |
93170250 |
2 |
HECTD2 |
C |
G |
exonic |
nonsynonymous SNV |
HECTD2:NM_001284274:exon1:c.C55G:p.P19A,HECTD2:NM_173497:exon1:c.C55G:p.P19A,HECTD2:NM_182765:exon1:c.C55G:p.P19A |
|
10 |
95072906 |
2 |
MYOF |
T |
C |
exonic |
synonymous SNV |
MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R |
RS787666 |
Bipolar disorder |
|
10 |
95262981 |
2 |
CEP55 |
A |
G |
exonic |
nonsynonymous SNV |
CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A |
|
10 |
98386558 |
2 |
PIK3AP1 |
G |
A |
exonic |
synonymous SNV |
PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L |
|
10 |
99019177 |
2 |
ARHGAP19 |
A |
G |
exonic |
synonymous SNV |
ARHGAP19:NM_001204300:exon5:c.T822C:p.H274H,ARHGAP19:NM_001256423:exon5:c.T795C:p.H265H,ARHGAP19:NM_032900:exon5:c.T822C:p.H274H |
RS2253301 |
Fasting blood glucose:Infant head
circumference |
|
10 |
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 |
99376152 |
2 |
MORN4 |
A |
G |
exonic |
synonymous SNV |
MORN4:NM_001098831:exon5:c.T309C:p.P103P,MORN4:NM_178832:exon5:c.T309C:p.P103P |
RS3814556 |
HOMA-IR:Fasting
insulin:HOMA-B:Autism:Gene expression of C10orf83 [probe ILMN_21995] in
osteoblasts treated with dexamethasone:Gene expression of C10orf83 [probe
ILMN_21995] in osteoblasts treated with BMP2:Systolic blood pressure
(SBP):Gene expression of MORN4 in normal prepouch ileum:Paternal transmission
distortion |
|
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 |
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 |
105205302 |
2 |
PDCD11 |
A |
C |
exonic |
nonsynonymous SNV |
PDCD11:NM_014976:exon36:c.A5612C:p.D1871A |
RS7831 |
Gene expression of USMG5 in CHB-JPT
lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:HDL
cholesterol:Cystatin C in serum:Serum creatinine:Gene expression of USMG5 in
peripheral blood monocytes:Waist hip ratio:Systolic blood pressure (SBP):Gene
expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of USMG5 (probeID ILMN_1773313) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of USMG5
(probeID ILMN_1773313) in whole blood |
|
10 |
105361816 |
2 |
SH3PXD2A |
T |
G |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I |
|
10 |
105362209 |
2 |
SH3PXD2A |
T |
C |
exonic |
synonymous SNV |
SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K |
RS4917396 |
Fasting blood
glucose:Microalbuminuria:Urinary albumin-to-creatinine ratio:Parkinson's
disease |
|
10 |
105657316 |
2 |
STN1 |
G |
C |
exonic |
nonsynonymous SNV |
STN1:NM_024928:exon7:c.C743G:p.S248C |
RS10786775 |
Height in controls:HOMA-B:Fasting
insulin:HOMA-IR:Leukocyte telomere length:HDL
cholesterol:Triglycerides:Height:Systolic blood pressure (SBP):Diastolic
blood pressure (DBP):PROP taste detection threshold:Parkinson's
disease:College completion:Coronary artery disease (CAD) |
|
10 |
105659826 |
2 |
STN1 |
T |
C |
exonic |
nonsynonymous SNV |
STN1:NM_024928:exon5:c.A451G:p.T151A |
RS2487999 |
Spine bone mineral density
(BMD):Differential exon level expression of OBFC1 [probe 3305032] in brain
cortex:HOMA-B:Fasting insulin:HOMA-IR:Leukocyte telomere length:HDL
cholesterol:Height:Gene expression of OBFC1 [probe ILMN_29568] in osteoblasts
treated with bmp:Relative telomere length:Systolic blood pressure
(SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Bipolar
disorder:College completion:Parkinson's disease:Coronary artery disease (CAD) |
|
10 |
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 |
116719543 |
2 |
TRUB1 |
G |
A |
exonic |
nonsynonymous SNV |
TRUB1:NM_139169:exon4:c.G500A:p.R167K |
RS7099565 |
Irritible bowel syndrome:Tardive
dyskinesia:Major depressive disorder:HDL cholesterol |
|
10 |
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 |
121679013 |
2 |
SEC23IP |
A |
G |
exonic |
nonsynonymous SNV |
SEC23IP:NM_007190:exon11:c.A1930G:p.K644E |
RS2475298 |
LDL
cholesterol:TrailsA:TrailsB:Height:Gene expression of C10orf119 (probeID
ILMN_1761411) in temporal cortex in Alzheimer's disease cases and
controls:Parkinson's disease:Gene expression of C10orf119 (probeID
ILMN_1761411) in cerebellum in Alzheimer's disease cases and controls |
|
10 |
123970530 |
2 |
TACC2 |
T |
C |
exonic |
nonsynonymous SNV |
TACC2:NM_001291878:exon3:c.T824C:p.V275A,TACC2:NM_006997:exon3:c.T824C:p.V275A,TACC2:NM_206860:exon3:c.T824C:p.V275A,TACC2:NM_206861:exon6:c.T1028C:p.V343A,TACC2:NM_001291876:exon8:c.T6455C:p.V2152A,TACC2:NM_001291877:exon8:c.T6602C:p.V2201A,TACC2:NM_206862:exon9:c.T6590C:p.V2197A |
RS2295873 |
Type 2 diabetes:Fasting
insulin:HOMA-IR:Systolic blood pressure (SBP):Refractive error |
|
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 |
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 |
134017295 |
2 |
DPYSL4 |
A |
G |
exonic |
synonymous SNV |
DPYSL4:NM_006426:exon13:c.A1491G:p.G497G |
|
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 |
135082346 |
2 |
ADAM8 |
A |
G |
exonic |
nonsynonymous SNV |
ADAM8:NM_001164490:exon17:c.T1774C:p.F592L,ADAM8:NM_001109:exon19:c.T1969C:p.F657L |
|
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 |
135180430 |
2 |
ECHS1 |
A |
G |
exonic |
synonymous SNV |
ECHS1:NM_004092:exon5:c.T582C:p.T194T |
|
10 |
135205009 |
2 |
PAOX |
C |
G |
exonic |
synonymous SNV |
PAOX:NM_207128:exon6:c.C1428G:p.P476P |
RS1046178 |
Triglycerides:HDL cholesterol:Serum
creatinine |
|
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 |
308363 |
2 |
IFITM2 |
G |
C |
exonic |
synonymous SNV |
IFITM2:NM_006435:exon1:c.G171C:p.V57V |
|
11 |
309127 |
1 |
IFITM2 |
A |
G |
exonic |
nonsynonymous SNV |
IFITM2:NM_006435:exon2:c.A361G:p.I121V |
|
11 |
314207 |
2 |
IFITM1 |
C |
G |
exonic |
nonsynonymous SNV |
IFITM1:NM_003641:exon1:c.C37G:p.P13A |
|
11 |
372157 |
2 |
B4GALNT4 |
C |
T |
exonic |
nonsynonymous SNV |
B4GALNT4:NM_178537:exon2:c.C200T:p.A67V |
|
11 |
379598 |
2 |
B4GALNT4 |
A |
G |
exonic |
synonymous SNV |
B4GALNT4:NM_178537:exon15:c.A2385G:p.E795E |
|
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 |
433387 |
2 |
ANO9 |
A |
G |
exonic |
nonsynonymous SNV |
ANO9:NM_001012302:exon4:c.T277C:p.F93L |
|
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 |
830670 |
2 |
CRACR2B |
G |
T |
exonic |
nonsynonymous SNV |
CRACR2B:NM_001286606:exon6:c.G743T:p.S248I,CRACR2B:NM_173584:exon6:c.G743T:p.S248I |
RS4075289 |
Gene expression of CD151 in CEU
lymphoblastoid cell lines:Gene expression of CD151 in lymphoblastoid cell
lines:HOMA-B:Cystatin C in serum:Methylation levels at chr11:831376-831426
[hg18 coord, probe cg11173246] in Temporal cortex:Methylation levels at chr11:831285-831335
[hg18 coord, probe cg03116740] in Temporal cortex:Body mass index (BMI):Gene
expression of CD151 [transcript NM_139029, probe A_23_P95470] in liver:Gene
expression of CD151 in normal prepouch ileum:Gene expression of CD151
(probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of CD151 (ENSG00000177697) in dendritic cells
treated with Mycobacterium tuberculosis:Gene expression of CD151 (probeID
ILMN_1661589) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of CD151 (probeID ILMN_1794740) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID
ILMN_1794740) in cerebellum in Alzheimer's disease cases and controls |
|
11 |
837582 |
2 |
CD151 |
G |
A |
exonic |
synonymous SNV |
CD151:NM_001039490:exon6:c.G579A:p.G193G,CD151:NM_139030:exon6:c.G579A:p.G193G,CD151:NM_004357:exon7:c.G579A:p.G193G,CD151:NM_139029:exon7:c.G579A:p.G193G |
RS1130663 |
Gene expression of CD151
(ENSG00000177697) in dendritic cells:Gene expression of CD151 in normal
prepouch ileum |
|
11 |
840477 |
2 |
POLR2L |
A |
G |
exonic |
synonymous SNV |
POLR2L:NM_021128:exon2:c.T99C:p.D33D |
|
11 |
862652 |
2 |
TSPAN4 |
T |
C |
exonic |
synonymous SNV |
TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L |
|
11 |
903070 |
2 |
CHID1 |
G |
C |
exonic |
synonymous SNV |
CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V |
|
11 |
1501670 |
2 |
MOB2 |
G |
C |
exonic |
synonymous SNV |
MOB2:NM_001172223:exon3:c.C318G:p.S106S |
RS10742185 |
Obesity with early age of onset (age
>2) |
|
11 |
1502097 |
2 |
MOB2 |
A |
G |
exonic |
synonymous SNV |
MOB2:NM_001172223:exon2:c.T129C:p.P43P |
|
11 |
2424684 |
2 |
TSSC4 |
A |
C |
exonic |
nonsynonymous SNV |
TSSC4:NM_001297659:exon3:c.A821C:p.H274P,TSSC4:NM_005706:exon3:c.A821C:p.H274P,TSSC4:NM_001297658:exon4:c.A821C:p.H274P,TSSC4:NM_001297660:exon4:c.A821C:p.H274P,TSSC4:NM_001297661:exon4:c.A629C:p.H210P |
|
11 |
3383067 |
1 |
ZNF195 |
G |
A |
exonic |
synonymous SNV |
ZNF195:NM_001130519:exon4:c.C279T:p.S93S,ZNF195:NM_001130520:exon4:c.C279T:p.S93S,ZNF195:NM_001242841:exon5:c.C291T:p.S97S,ZNF195:NM_001256824:exon5:c.C291T:p.S97S |
|
11 |
4159466 |
2 |
RRM1 |
G |
A |
exonic |
synonymous SNV |
RRM1:NM_001318065:exon13:c.G1218A:p.A406A,RRM1:NM_001330193:exon13:c.G1566A:p.A522A,RRM1:NM_001318064:exon18:c.G1941A:p.A647A,RRM1:NM_001033:exon19:c.G2232A:p.A744A |
|
11 |
6644600 |
2 |
DCHS1 |
C |
T |
exonic |
synonymous SNV |
DCHS1:NM_003737:exon21:c.G8307A:p.A2769A |
|
11 |
6976988 |
2 |
ZNF215 |
A |
T |
exonic |
synonymous SNV |
ZNF215:NM_013250:exon7:c.A780T:p.G260G |
RS2239731 |
Birth weight |
|
11 |
7022531 |
2 |
ZNF214 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF214:NM_013249:exon3:c.T383A:p.L128H |
|
11 |
7673015 |
2 |
PPFIBP2 |
G |
A |
exonic |
synonymous SNV |
PPFIBP2:NM_001256569:exon19:c.G1947A:p.E649E,PPFIBP2:NM_001256568:exon20:c.G2040A:p.E680E,PPFIBP2:NM_003621:exon23:c.G2376A:p.E792E |
RS5864 |
Gene expression of CYB5R2 in
peripheral blood monocytes:Biploar disorder (bipolar affective disorder with
comorbid migraine):Allele-specific Expression Patterns in human glioblastoma
cell line U87MG |
|
11 |
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 |
10529739 |
2 |
MTRNR2L8 |
G |
A |
exonic |
nonsynonymous SNV |
MTRNR2L8:NM_001190702:exon1:c.C35T:p.S12L |
|
11 |
10822350 |
2 |
EIF4G2 |
C |
T |
exonic |
synonymous SNV |
EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P |
|
11 |
11913585 |
2 |
USP47 |
G |
T |
exonic |
nonsynonymous SNV |
USP47:NM_017944:exon3:c.G224T:p.G75V,USP47:NM_001282659:exon4:c.G428T:p.G143V,USP47:NM_001330208:exon5:c.G488T:p.G163V |
RS11022079 |
Barnes Akathisia Rating Scale:HDL
cholesterol:Waist hip ratio:Adiponectin levels |
|
11 |
17981047 |
2 |
SERGEF |
C |
T |
exonic |
synonymous SNV |
SERGEF:NM_012139:exon9:c.G981A:p.S327S |
RS211146 |
Gene expression of SERGEF [probe
220482_s_at] in lymphoblastoid cell lines:Schizophrenia:LDL
cholesterol:Triglycerides:Microalbuminuria:Gene expression of SERGEF
[transcript NM_012139, probe A_23_P139207] in liver:Gene expression of SAAL1
in blood:Gene expression of SERGEF in blood:Bipolar disorder:Mitral annular
calcium:Obesity with early age of onset (age >2):Hypertension (early onset
hypertension) |
|
11 |
18253176 |
2 |
SAA2-SAA4;SAA4 |
C |
T |
exonic |
nonsynonymous SNV |
SAA4:NM_006512:exon4:c.G266A:p.C89Y,SAA2-SAA4:NM_001199744:exon6:c.G500A:p.C167Y |
RS2460827 |
2 hour glucose:HDL
cholesterol:Total cholesterol change with statins:Total cholesterol:Total
cholesterol:Breast cancer:Years of education |
|
11 |
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 |
19955500 |
2 |
NAV2 |
A |
G |
exonic |
synonymous SNV |
NAV2:NM_001111018:exon7:c.A1518G:p.K506K,NAV2:NM_145117:exon7:c.A1710G:p.K570K,NAV2:NM_182964:exon7:c.A1710G:p.K570K,NAV2:NM_001244963:exon8:c.A1779G:p.K593K |
RS1372989 |
HDL cholesterol:Serum
creatinine:Urinary albumin-to-creatinine ratio |
|
11 |
19970558 |
2 |
NAV2 |
T |
C |
exonic |
synonymous SNV |
NAV2:NM_001111018:exon10:c.T2385C:p.D795D,NAV2:NM_145117:exon10:c.T2577C:p.D859D,NAV2:NM_182964:exon10:c.T2577C:p.D859D,NAV2:NM_001244963:exon11:c.T2646C:p.D882D |
|
11 |
19970579 |
2 |
NAV2 |
C |
T |
exonic |
synonymous SNV |
NAV2:NM_001111018:exon10:c.C2406T:p.D802D,NAV2:NM_145117:exon10:c.C2598T:p.D866D,NAV2:NM_182964:exon10:c.C2598T:p.D866D,NAV2:NM_001244963:exon11:c.C2667T:p.D889D |
|
11 |
20124914 |
2 |
NAV2 |
A |
C |
exonic |
synonymous SNV |
NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G |
|
11 |
20529886 |
2 |
PRMT3 |
G |
A |
exonic |
nonsynonymous SNV |
PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N |
|
11 |
21154569 |
2 |
|
11 |
27390089 |
2 |
LGR4 |
T |
C |
exonic |
synonymous SNV |
LGR4:NM_001346432:exon17:c.A2109G:p.K703K,LGR4:NM_018490:exon18:c.A2181G:p.K727K |
|
11 |
32954344 |
2 |
QSER1 |
G |
A |
exonic |
nonsynonymous SNV |
QSER1:NM_001076786:exon4:c.G1153A:p.V385I |
|
11 |
32956244 |
2 |
QSER1 |
A |
G |
exonic |
nonsynonymous SNV |
QSER1:NM_001076786:exon4:c.A3053G:p.N1018S |
|
11 |
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 |
43911365 |
2 |
ALKBH3 |
T |
C |
exonic |
synonymous SNV |
ALKBH3:NM_139178:exon6:c.T357C:p.T119T |
RS2434478 |
Breast cancer |
|
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 |
46745003 |
1 |
F2 |
C |
T |
exonic |
nonsynonymous SNV |
F2:NM_000506:exon6:c.C494T:p.T165M,F2:NM_001311257:exon6:c.C446T:p.T149M |
RS5896 |
Hip bone mineral density (BMD):Hip
bone mineral density (BMD) (females):HDL cholesterol:Stroke (all types):HDL
cholesterol:Total cholesterol:HDL cholesterol change with
statins:Triglycerides:HDL cholesterol:Body mass index (BMI):College
completion:Acute lung injury following major trauma |
|
11 |
46914583 |
2 |
LRP4 |
T |
C |
exonic |
synonymous SNV |
LRP4:NM_002334:exon13:c.A1638G:p.K546K |
|
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 |
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 |
47306585 |
1 |
MADD |
G |
A |
exonic |
nonsynonymous SNV |
MADD:NM_001135943:exon13:c.G2251A:p.V751M,MADD:NM_001135944:exon13:c.G2251A:p.V751M,MADD:NM_003682:exon13:c.G2251A:p.V751M,MADD:NM_130470:exon13:c.G2251A:p.V751M,MADD:NM_130471:exon13:c.G2251A:p.V751M,MADD:NM_130472:exon13:c.G2251A:p.V751M,MADD:NM_130473:exon13:c.G2251A:p.V751M,MADD:NM_130474:exon13:c.G2251A:p.V751M,MADD:NM_130475:exon13:c.G2251A:p.V751M,MADD:NM_130476:exon13:c.G2251A:p.V751M |
RS1051006 |
HDL cholesterol:HDL
cholesterol:Tardive dyskinesia:Fasting blood glucose:Triglycerides change
with statins:Total cholesterol:Gene expression of ACP2 in peripheral blood
monocytes:Gene expression of NR1H3 in peripheral blood monocytes:Total
cholesterol:Triglycerides:HDL cholesterol:Height:Gene expression of SPI1 in
blood:Gene expression of MADD///MYBPC3 in blood:Gene expression of
DDB2///ACP2 in blood:Gene expression of NR1H3///MADD in blood:Years of
education:Insulin processing and secretion:Paternal transmission
distortion:College completion:Acute lung injury following major
trauma: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 |
47834592 |
2 |
NUP160 |
G |
A |
exonic |
synonymous SNV |
NUP160:NM_015231:exon15:c.C1794T:p.D598D |
|
11 |
57571232 |
2 |
CTNND1 |
C |
T |
exonic |
synonymous SNV |
CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H |
|
11 |
60689445 |
2 |
TMEM109 |
T |
C |
exonic |
synonymous SNV |
TMEM109:NM_024092:exon4:c.T540C:p.P180P |
RS555835 |
Differential exon level expression
of TMEM132A [probe 3332643] in brain cortex:Total cholesterol:Methylation
levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal
cortex:Gene expression of TMEM109 in blood:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension):Myopia:Primary rhegmatogenous
retinal detachment:Gene expression of MS4A10 in normal prepouch ileum |
|
11 |
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 |
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 |
61669946 |
1 |
RAB3IL1 |
G |
A |
exonic |
nonsynonymous SNV |
RAB3IL1:NM_001271686:exon7:c.C889T:p.H297Y,RAB3IL1:NM_013401:exon8:c.C967T:p.H323Y |
RS3815045 |
Spine bone mineral density
(BMD):Schizophrenia:Barnes Akathisia Rating Scale:Fasting blood glucose:HDL
cholesterol:Total cholesterol |
|
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 |
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 |
62564009 |
1 |
NXF1 |
T |
C |
exonic |
synonymous SNV |
NXF1:NM_006362:exon14:c.A1209G:p.R403R |
RS4693 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Urinary albumin-to-creatinine
ratio |
|
11 |
63313644 |
2 |
RARRES3 |
T |
C |
exonic |
synonymous SNV |
RARRES3:NM_004585:exon4:c.T411C:p.V137V |
|
11 |
63885632 |
2 |
FLRT1 |
A |
G |
exonic |
synonymous SNV |
FLRT1:NM_013280:exon2:c.A1893G:p.E631E |
|
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 |
64572557 |
2 |
MEN1 |
A |
G |
exonic |
synonymous SNV |
MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H |
|
11 |
64621856 |
2 |
EHD1 |
A |
G |
exonic |
synonymous SNV |
EHD1:NM_006795:exon5:c.T1554C:p.P518P,EHD1:NM_001282445:exon6:c.T1596C:p.P532P,EHD1:NM_001282444:exon7:c.T1554C:p.P518P |
|
11 |
64677293 |
2 |
ATG2A |
G |
C |
exonic |
nonsynonymous SNV |
ATG2A:NM_015104:exon14:c.C1967G:p.P656R |
|
11 |
64809090 |
2 |
SAC3D1 |
T |
G |
exonic |
nonsynonymous SNV |
SAC3D1:NM_013299:exon1:c.T326G:p.L109R |
|
11 |
64809133 |
2 |
SAC3D1 |
T |
G |
exonic |
synonymous SNV |
SAC3D1:NM_013299:exon1:c.T369G:p.A123A |
|
11 |
64809167 |
2 |
SAC3D1 |
A |
G |
exonic |
nonsynonymous SNV |
SAC3D1:NM_013299:exon1:c.A403G:p.T135A |
|
11 |
64880090 |
2 |
TM7SF2 |
G |
C |
exonic |
synonymous SNV |
TM7SF2:NM_001277233:exon2:c.G156C:p.P52P,TM7SF2:NM_003273:exon2:c.G156C:p.P52P |
|
11 |
64884052 |
2 |
ZNHIT2 |
G |
A |
exonic |
synonymous SNV |
ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A |
|
11 |
65144075 |
2 |
SLC25A45 |
T |
C |
exonic |
nonsynonymous SNV |
SLC25A45:NM_001278250:exon5:c.A598G:p.M200V,SLC25A45:NM_001300820:exon5:c.A484G:p.M162V,SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V,SLC25A45:NM_001278251:exon10:c.A544G:p.M182V |
RS624307 |
Salmonella-induced pyroptosis |
|
11 |
65347636 |
2 |
EHBP1L1 |
G |
C |
exonic |
nonsynonymous SNV |
EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L,EHBP1L1:NM_001351087:exon5:c.G397C:p.V133L |
|
11 |
65349849 |
2 |
EHBP1L1 |
A |
T |
exonic |
nonsynonymous SNV |
EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V |
|
11 |
65383896 |
2 |
PCNX3 |
G |
C |
exonic |
synonymous SNV |
PCNX3:NM_032223:exon1:c.G114C:p.V38V |
|
11 |
65385606 |
2 |
PCNX3 |
A |
G |
exonic |
nonsynonymous SNV |
PCNX3:NM_032223:exon6:c.A773G:p.Q258R |
|
11 |
65415028 |
2 |
SIPA1 |
T |
G |
exonic |
synonymous SNV |
SIPA1:NM_006747:exon9:c.T2205G:p.T735T,SIPA1:NM_153253:exon9:c.T2205G:p.T735T |
|
11 |
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 |
66114900 |
1 |
B4GAT1 |
C |
T |
exonic |
synonymous SNV |
B4GAT1:NM_006876:exon1:c.G117A:p.Q39Q |
|
11 |
66272142 |
2 |
DPP3 |
A |
G |
exonic |
synonymous SNV |
DPP3:NM_001256670:exon16:c.A1848G:p.T616T,DPP3:NM_005700:exon17:c.A1938G:p.T646T,DPP3:NM_130443:exon17:c.A1938G:p.T646T |
RS1671063 |
2 hour glucose:Serum
creatinine:Height:Mitral annular calcium:Tetrology of fallot |
|
11 |
66331458 |
2 |
CTSF |
A |
G |
exonic |
synonymous SNV |
CTSF:NM_003793:exon13:c.T1401C:p.R467R |
RS572846 |
Coronary artery disease (CAD),
combined control dataset:Gene expression of CCS [probe 203522_at] in
lymphoblastoid cell lines:Gene expression of AK024147 in liver:Gene
expression of AF087999 in liver:Gene expression of BBS1 in liver:Gene
expression of BC010113 in liver:Gene expression of HSS00088218 in liver:Gene
expression of MAP3K2 in liver:Gene expression of ASTE1 in liver:HDL
cholesterol:Major depressive disorder:2 hour glucose:HDL cholesterol change
with statins:Serum creatinine:Gene expression of CCS in peripheral blood
monocytes:Gene expression of CTSF in peripheral blood monocytes:Gene
expression of LRFN4 in peripheral blood monocytes:Height:Gene expression
levels of ACTN3 in muscle:Comorbid depressive syndrome and alcohol
dependence:Bipolar disorder |
|
11 |
66333598 |
2 |
CTSF |
C |
T |
exonic |
synonymous SNV |
CTSF:NM_003793:exon6:c.G762A:p.R254R |
|
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 |
67068859 |
2 |
ANKRD13D |
T |
C |
exonic |
synonymous SNV |
ANKRD13D:NM_207354:exon12:c.T1338C:p.V446V,ANKRD13D:NM_001347901:exon13:c.T1077C:p.V359V |
RS2298815 |
HDL cholesterol:Parkinson's
disease:Acute lung injury following major trauma |
|
11 |
67075131 |
1 |
SSH3 |
C |
T |
exonic |
synonymous SNV |
SSH3:NM_017857:exon7:c.C714T:p.S238S |
|
11 |
67160961 |
1 |
RAD9A |
A |
G |
exonic |
startloss |
RAD9A:NM_001243224:exon1:c.A1G:p.M1? |
RS2066496 |
Gene expression of RPS6KB2 in
CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Gene expression of SSH3 in
peripheral blood monocytes:Gene expression of TBC1D10C in peripheral blood
monocytes:LDL cholesterol:Total cholesterol:Gene expression of ANKRD13D [transcript
NM_207354, probe A_24_P76105] in liver:Lymphocyte count:Acute lung injury
following major trauma |
|
11 |
67191449 |
2 |
CARNS1 |
T |
C |
exonic |
synonymous SNV |
CARNS1:NM_020811:exon9:c.T1861C:p.L621L,CARNS1:NM_001166222:exon10:c.T2230C:p.L744L |
RS1790747 |
Gene expression of RPS6KB2 in
CHB-JPT lymphoblastoid cell lines:LDL cholesterol:LDL cholesterol:Total
cholesterol:Acute lung injury following major trauma |
|
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 |
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 |
68671477 |
1 |
IGHMBP2 |
T |
C |
exonic |
synonymous SNV |
IGHMBP2:NM_002180:exon1:c.T57C:p.L19L |
RS1249463 |
Gene expression of CPT1A
(ENSG00000110090) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression change of CPT1A (ENSG00000110090) in dendritic
cells after treatment with Mycobacterium tuberculosis |
|
11 |
68678962 |
1 |
IGHMBP2 |
T |
C |
exonic |
nonsynonymous SNV |
IGHMBP2:NM_002180:exon5:c.T602C:p.L201S |
RS560096 |
Parkinson's disease (PD):Arthritis
including non-Rheumatoid:2 hour glucose:HDL cholesterol change with
statins:Gene expression of CPT1A in peripheral blood monocytes:Gene
expression of MRPL21 in peripheral blood monocytes:Gene expression of MRPL21
in blood:Gene expression of IGHMBP2 in blood:College completion |
|
11 |
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 |
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 |
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 |
72945341 |
2 |
P2RY2 |
C |
T |
exonic |
nonsynonymous SNV |
P2RY2:NM_002564:exon3:c.C137T:p.P46L,P2RY2:NM_176071:exon3:c.C137T:p.P46L,P2RY2:NM_176072:exon3:c.C137T:p.P46L |
|
11 |
73074850 |
1 |
ARHGEF17 |
C |
T |
exonic |
stopgain |
ARHGEF17:NM_014786:exon16:c.C5305T:p.Q1769X |
|
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 |
75277628 |
2 |
SERPINH1 |
A |
G |
exonic |
synonymous SNV |
SERPINH1:NM_001235:exon2:c.A234G:p.L78L,SERPINH1:NM_001207014:exon3:c.A234G:p.L78L |
RS584961 |
LDL cholesterol:Height |
|
11 |
76507692 |
2 |
TSKU |
T |
A |
exonic |
nonsynonymous SNV |
TSKU:NM_001258210:exon2:c.T1032A:p.D344E,TSKU:NM_001318477:exon2:c.T1074A:p.D358E,TSKU:NM_001318478:exon2:c.T1032A:p.D344E,TSKU:NM_001318479:exon2:c.T1032A:p.D344E,TSKU:NM_015516:exon2:c.T1032A:p.D344E |
|
11 |
76637651 |
2 |
ACER3 |
G |
A |
exonic |
nonsynonymous SNV |
ACER3:NM_018367:exon2:c.G154A:p.V52I |
RS4379869 |
Gene expression of PHCA in blood
cells in Celiac disease:Differential exon level expression of PHCA [probe
3341083] in brain cortex:Differential exon level expression of PHCA [probe
3341092] in brain cortex:Differential exon level expression of PHCA [probe
3341092] in peripheral blood mononuclear cells:Differential exon level
expression of PHCA [probe 3341083] in peripheral blood mononuclear
cells:Fasting insulin:Rheumatoid arthritis:Gene expression of PHCA in
blood:Hypertension (early onset hypertension) |
|
11 |
77790653 |
2 |
NDUFC2;NDUFC2-KCTD14 |
T |
C |
exonic |
synonymous SNV |
NDUFC2-KCTD14:NM_001203260:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203261:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203262:exon1:c.A138G:p.L46L,NDUFC2:NM_001204054:exon1:c.A138G:p.L46L,NDUFC2:NM_001204055:exon1:c.A138G:p.L46L,NDUFC2:NM_004549:exon1:c.A138G:p.L46L |
|
11 |
77921527 |
2 |
USP35 |
G |
C |
exonic |
nonsynonymous SNV |
USP35:NM_020798:exon10:c.G2626C:p.A876P |
RS2512526 |
Body mass index (BMI):Mitral annular
calcium |
|
11 |
82996986 |
2 |
CCDC90B |
A |
C |
exonic |
nonsynonymous SNV |
CCDC90B:NM_021825:exon1:c.T30G:p.F10L |
RS494791 |
Partial
epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob
disease:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
11 |
87908448 |
2 |
RAB38 |
A |
G |
exonic |
synonymous SNV |
RAB38:NM_022337:exon1:c.T105C:p.S35S |
RS302646 |
Waist hip ratio:Birth weight |
|
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 |
95512060 |
2 |
FAM76B |
A |
G |
exonic |
synonymous SNV |
FAM76B:NM_001330357:exon8:c.T751C:p.L251L,FAM76B:NM_144664:exon8:c.T754C:p.L252L |
RS1150360 |
Gene expression of FAM76B in blood
cells in Celiac disease:Total cholesterol:Rheumatoid arthritis:LDL
cholesterol:Total cholesterol:Gene expression of FAM76B in CD4+
lymphocytes:Gene expression of FAM76B in blood:Comorbid depressive syndrome
and alcohol dependence:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of CEP57 in normal prepouch ileum |
|
11 |
95580926 |
1 |
MTMR2 |
G |
A |
exonic |
synonymous SNV |
MTMR2:NM_016156:exon10:c.C1131T:p.T377T,MTMR2:NM_201281:exon11:c.C915T:p.T305T,MTMR2:NM_201278:exon12:c.C915T:p.T305T,MTMR2:NM_001243571:exon13:c.C915T:p.T305T |
RS566204 |
LDL cholesterol:Total
cholesterol:LDL cholesterol:Rheumatoid arthritis:Total
cholesterol:Microalbuminuria:Comorbid depressive syndrome and alcohol
dependence:Gene expression of CEP57 in normal prepouch ileum:Years of
education:College completion |
|
11 |
101833644 |
2 |
CEP126 |
C |
T |
exonic |
synonymous SNV |
CEP126:NM_020802:exon6:c.C1878T:p.T626T |
|
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 |
108043988 |
2 |
NPAT |
C |
T |
exonic |
nonsynonymous SNV |
NPAT:NM_001321307:exon13:c.G1723A:p.V575I,NPAT:NM_002519:exon13:c.G1723A:p.V575I |
RS2070661 |
Cystatin C in serum:HDL cholesterol |
|
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 |
117077034 |
2 |
PCSK7 |
A |
G |
exonic |
synonymous SNV |
PCSK7:NM_004716:exon17:c.T2037C:p.T679T |
|
11 |
117078702 |
2 |
PCSK7 |
A |
C |
exonic |
synonymous SNV |
PCSK7:NM_004716:exon14:c.T1770G:p.L590L |
|
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 |
117252489 |
2 |
CEP164 |
T |
C |
exonic |
synonymous SNV |
CEP164:NM_001271933:exon12:c.T1491C:p.P497P,CEP164:NM_014956:exon13:c.T1482C:p.P494P |
|
11 |
117282800 |
2 |
CEP164 |
G |
T |
exonic |
synonymous SNV |
CEP164:NM_001271933:exon32:c.G4284T:p.S1428S,CEP164:NM_014956:exon33:c.G4299T:p.S1433S |
RS522885 |
Childhood acute lymphoblastic
leukemia:Cystatin C in serum:Comorbid depressive syndrome and alcohol
dependence |
|
11 |
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 |
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 |
124524627 |
2 |
SIAE |
A |
G |
exonic |
synonymous SNV |
SIAE:NM_170601:exon4:c.T468C:p.S156S,SIAE:NM_001199922:exon6:c.T363C:p.S121S |
RS1942663 |
Gene expression of SPA17 in JPT
lymphoblastoid cell lines |
|
11 |
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 |
125766044 |
2 |
PUS3 |
C |
A |
exonic |
nonsynonymous SNV |
PUS3:NM_031307:exon2:c.G136T:p.A46S |
RS549990 |
Rheumatoid arthritis:Simpson-Angus
Scale:Rheumatoid arthritis:Comorbid depressive syndrome and alcohol
dependence |
|
11 |
125766173 |
2 |
PUS3 |
A |
C |
exonic |
nonsynonymous SNV |
PUS3:NM_031307:exon2:c.T7G:p.Y3D |
RS622756 |
Salmonella-induced pyroptosis |
|
11 |
125830970 |
2 |
CDON |
A |
T |
exonic |
nonsynonymous SNV |
CDON:NM_001243597:exon20:c.T3731A:p.I1244N,CDON:NM_016952:exon20:c.T3662A:p.I1221N |
RS684535 |
Advanced age-related macular
degeneration:Birth weight:Aortic valve calcium |
|
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 |
129801043 |
2 |
PRDM10 |
C |
T |
exonic |
synonymous SNV |
PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q |
RS2277033 |
Triglycerides |
|
11 |
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 |
153657083 |
2 |
|
12 |
406292 |
1 |
KDM5A |
G |
A |
exonic |
synonymous SNV |
KDM5A:NM_001042603:exon25:c.C4149T:p.S1383S |
RS2229351 |
Triglycerides |
|
12 |
427575 |
1 |
KDM5A |
A |
G |
exonic |
nonsynonymous SNV |
KDM5A:NM_001042603:exon19:c.T2594C:p.M865T |
RS11062385 |
Amyotrophic lateral sclerosis
(ALS):Gene expression of JARID1A [probe 215698_at] in lymphoblastoid cell
lines:Total cholesterol:Serum creatinine:Gene expression of JARID1A in
blood:Gene expression of AC005844.1 in blood:Systolic blood pressure
(SBP):Bipolar disorder:Refractive error |
|
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 |
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 |
3049698 |
1 |
TULP3 |
T |
C |
exonic |
nonsynonymous SNV |
TULP3:NM_001160408:exon12:c.T1312C:p.C438R |
RS998814 |
Parkinson's disease (PD):Autism with
high IQ |
|
12 |
7065635 |
2 |
PTPN6 |
T |
C |
exonic |
synonymous SNV |
PTPN6:NM_002831:exon9:c.T978C:p.G326G,PTPN6:NM_080548:exon9:c.T984C:p.G328G,PTPN6:NM_080549:exon9:c.T978C:p.G326G |
|
12 |
7090193 |
1 |
LPCAT3 |
A |
G |
exonic |
nonsynonymous SNV |
LPCAT3:NM_005768:exon6:c.T650C:p.I217T |
RS1984564 |
Differential exon level expression
of MBOAT5 [probe 3442446] in peripheral blood mononuclear cells:HOMA-B:HDL
cholesterol change with statins:Triglycerides change with statins:Gene
expression of EMG1///LPCAT3 in blood:Gene expression of ATN1 in normal prepouch
ileum |
|
12 |
7091021 |
1 |
LPCAT3 |
G |
A |
exonic |
synonymous SNV |
LPCAT3:NM_005768:exon4:c.C411T:p.Y137Y |
|
12 |
7091918 |
1 |
LPCAT3 |
C |
T |
exonic |
synonymous SNV |
LPCAT3:NM_005768:exon3:c.G285A:p.L95L |
RS3764031 |
HOMA-B:Fasting insulin:HDL
cholesterol change with statins:Triglycerides change with statins:Gene
expression of ATN1 in normal prepouch ileum |
|
12 |
7867794 |
2 |
DPPA3 |
C |
G |
exonic |
nonsynonymous SNV |
DPPA3:NM_199286:exon2:c.C98G:p.S33C |
|
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 |
10532326 |
2 |
KLRC4-KLRK1;KLRK1 |
T |
C |
exonic |
nonsynonymous SNV |
KLRK1:NM_007360:exon4:c.A214G:p.T72A,KLRC4-KLRK1:NM_001199805:exon9:c.A214G:p.T72A |
RS2255336 |
Gene expression of KLRC4 [probe
1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe
1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe
205821_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Differential
exon level expression of KLRC3 [probe 3444136] in brain cortex:Chronic kidney
disease:Methylation levels at chr12:10479433-10479483 [hg18 coord, probe
cg22432908] in Frontal cortex:Gene expression of CSDA in peripheral blood
monocytes:Microalbuminuria:Gene expression of KLRC3 in blood:Gene expression
of KLRC2 in blood:Gene expression of KLRK1 in blood:College completion:Gene
expression of KLRC4 in normal prepouch ileum:Primary rhegmatogenous retinal
detachment |
|
12 |
10875488 |
1 |
YBX3 |
T |
C |
exonic |
nonsynonymous SNV |
YBX3:NM_001145426:exon1:c.A223G:p.T75A,YBX3:NM_003651:exon1:c.A223G:p.T75A |
|
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 |
11091432 |
2 |
TAS2R14 |
C |
T |
exonic |
synonymous SNV |
TAS2R14:NM_023922:exon1:c.G375A:p.R125R |
RS3741843 |
Gene expression of TAS2R45 [probe
234042_at] in lymphoblastoid cell lines:Gene expression of TAS2R14 [probe
3444436] in peripheral blood mononuclear cells:Methylation levels at
chr12:11067603-11067653 [hg18 coord, probe cg25677688] in Caudal pons:Methylation
levels at chr12:11030521-11030571 [hg18 coord, probe cg11032157] in Temporal
cortex:Methylation levels at chr12:11030521-11030571 [hg18 coord, probe
cg11032157] in Frontal cortex:Gene expression of TAS2R14 [probeset 221391_at]
in sputum:Gene expression of TAS2R50 in normal prepouch ileum:Gene expression
of PRR4 (probeID ILMN_1753665) in cerebellum in Alzheimer's disease
cases:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in
non-Alzheimer's disease samples:Gene expression of TAS2R14 in normal prepouch
ileum:Advanced age-related macular degeneration:Gene expression of PRH1
(probeID ILMN_2210534) in cerebellum in non-Alzheimer's disease samples:Gene
expression of PRR4 in normal prepouch ileum:Gene expression of PRH1 (probeID
ILMN_2210534) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TAS2R31 in normal prepouch ileum:Gene expression of PRH1
(probeID ILMN_2210534) in temporal cortex in Progressive Supranuclear Palsy
cases:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in
Alzheimer's disease cases:Gene expression of TAS2R13 in normal prepouch
ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Gene expression of TAS2R20 in normal prepouch
ileum:Gene expression of TAS2R43 in normal prepouch ileum:Gene expression of
PRH1 in normal prepouch ileum:Gene expression of TAS2R46 in normal prepouch
ileum:Tetrology of fallot:Gene expression of PRH1 (probeID ILMN_2210534) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
PRR4 (probeID ILMN_1753665) in cerebellum in Alzheimer's disease cases and
controls:Adiponectin levels:Gene expression of PRH1 (probeID ILMN_2210534) in
cerebellum in Alzheimer's disease cases:Gene expression of PRH1 (probeID
ILMN_2210534) in cerebellum in Progressive Supranuclear Palsy cases |
|
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 |
12967127 |
1 |
DDX47 |
C |
T |
exonic |
synonymous SNV |
DDX47:NM_016355:exon2:c.C150T:p.I50I,DDX47:NM_201224:exon2:c.C150T:p.I50I |
RS1051374 |
2 hour glucose:Autism:Comorbid
depressive syndrome and alcohol dependence |
|
12 |
14688644 |
2 |
PLBD1 |
C |
T |
exonic |
nonsynonymous SNV |
PLBD1:NM_024829:exon6:c.G793A:p.V265I |
|
12 |
22814036 |
1 |
ETNK1 |
A |
G |
exonic |
synonymous SNV |
ETNK1:NM_018638:exon4:c.A864G:p.E288E |
RS4963793 |
Gene expression of ETNK1 in
lymphoblastoid cell lines:Differential splicing of ETNK1 in lymphoblastoid
cell lines:HOMA-B:Fasting insulin:HOMA-IR:LDL cholesterol:Body mass index
(BMI) |
|
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 |
27849795 |
2 |
REP15 |
C |
T |
exonic |
synonymous SNV |
REP15:NM_001029874:exon1:c.C300T:p.S100S |
RS929948 |
Differential exon level expression
of MRPS35 [probe 3409337] in brain cortex:Gene expression of MRPS35 in CD4+
lymphocytes |
|
12 |
27849796 |
2 |
REP15 |
A |
G |
exonic |
nonsynonymous SNV |
REP15:NM_001029874:exon1:c.A301G:p.N101D |
|
12 |
28605426 |
2 |
CCDC91 |
G |
A |
exonic |
nonsynonymous SNV |
CCDC91:NM_001330367:exon10:c.G832A:p.V278M,CCDC91:NM_018318:exon11:c.G940A:p.V314M |
RS10771427 |
Celiac disease:Irritible bowel
syndrome:Asthma:Height:Waist hip ratio:Celiac disease:Celiac disease and
Crohn's disease:Crohn's disease:Obesity with early age of onset (age >2) |
|
12 |
31255392 |
1 |
DDX11 |
G |
A |
exonic |
nonsynonymous SNV |
DDX11:NM_004399:exon22:c.G2153A:p.G718E,DDX11:NM_001257144:exon23:c.G2303A:p.G768E,DDX11:NM_001257145:exon23:c.G2225A:p.G742E,DDX11:NM_030653:exon23:c.G2303A:p.G768E,DDX11:NM_152438:exon23:c.G2303A:p.G768E |
|
12 |
31256615 |
1 |
DDX11 |
C |
A |
exonic |
nonsynonymous SNV |
DDX11:NM_004399:exon25:c.C2491A:p.R831S,DDX11:NM_001257144:exon26:c.C2636A:p.P879Q,DDX11:NM_001257145:exon26:c.C2563A:p.R855S,DDX11:NM_030653:exon26:c.C2641A:p.R881S,DDX11:NM_152438:exon26:c.C2636A:p.P879Q |
|
12 |
32996137 |
1 |
PKP2 |
G |
A |
exonic |
stopgain |
PKP2:NM_004572:exon6:c.C1489T:p.R497X |
|
12 |
32996192 |
1 |
PKP2 |
G |
T |
exonic |
synonymous SNV |
PKP2:NM_004572:exon6:c.C1434A:p.A478A |
|
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 |
42481732 |
1 |
GXYLT1 |
G |
A |
exonic |
synonymous SNV |
GXYLT1:NM_001099650:exon7:c.C1086T:p.D362D,GXYLT1:NM_173601:exon8:c.C1179T:p.D393D |
RS7972986 |
Gene expression of TMEM205 in
peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Aortic valve
calcium:Breast cancer |
|
12 |
42503467 |
1 |
GXYLT1 |
T |
C |
exonic |
synonymous SNV |
GXYLT1:NM_001099650:exon3:c.A420G:p.T140T,GXYLT1:NM_173601:exon4:c.A513G:p.T171T |
RS7312933 |
HDL cholesterol change with
statins:Rheumatoid arthritis |
|
12 |
42839836 |
2 |
PPHLN1 |
A |
C |
exonic |
nonsynonymous SNV |
PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P |
|
12 |
46321514 |
1 |
SCAF11 |
A |
T |
exonic |
nonsynonymous SNV |
SCAF11:NM_004719:exon11:c.T1970A:p.F657Y |
RS7315731 |
LDL cholesterol:Rheumatoid
arthritis:Height:Adiponectin levels:Years of education:Parkinson's
disease: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 |
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 |
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 |
50452708 |
2 |
ASIC1 |
C |
G |
exonic |
synonymous SNV |
ASIC1:NM_001095:exon2:c.C159G:p.S53S,ASIC1:NM_020039:exon2:c.C159G:p.S53S |
|
12 |
51135275 |
2 |
DIP2B |
T |
C |
exonic |
synonymous SNV |
DIP2B:NM_173602:exon37:c.T4431C:p.I1477I |
|
12 |
52448157 |
1 |
NR4A1 |
G |
A |
exonic |
synonymous SNV |
NR4A1:NM_173157:exon2:c.G45A:p.P15P,NR4A1:NM_001202233:exon3:c.G84A:p.P28P,NR4A1:NM_001202234:exon3:c.G207A:p.P69P,NR4A1:NM_002135:exon3:c.G45A:p.P15P |
RS2701124 |
HOMA-B:Fasting blood
glucose:Advanced age-related macular degeneration:Infant head circumference |
|
12 |
52639302 |
2 |
KRT7 |
G |
C |
exonic |
nonsynonymous SNV |
KRT7:NM_005556:exon7:c.G1091C:p.G364A |
|
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 |
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 |
56295734 |
2 |
PYM1 |
A |
G |
exonic |
synonymous SNV |
PYM1:NM_001143853:exon3:c.T534C:p.P178P,PYM1:NM_032345:exon3:c.T537C:p.P179P |
|
12 |
56398454 |
2 |
SUOX |
G |
C |
exonic |
synonymous SNV |
SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S |
RS773115 |
Gene expression of LOC644191 [probe
217753_s_at] in lymphoblastoid cell lines:Gene expression of LOC728937 [probe
217753_s_at] in lymphoblastoid cell lines:Gene expression of RPS26 [probe
217753_s_at] in lymphoblastoid cell lines:Lung function, ratio of forced
expiratory volume in 1 second (FEV1) to forced vital capacity (FVC)
(FEV1/FVC):Rheumatoid arthritis:Acute lung injury following major trauma |
|
12 |
56647911 |
2 |
ANKRD52 |
G |
C |
exonic |
synonymous SNV |
ANKRD52:NM_173595:exon8:c.C846G:p.S282S |
RS808919 |
Coronary artery disease
(CAD):Abnormal Involuntary Movement Scale:HOMA-B:Gene expression of RPS26L1
in peripheral blood monocytes:Gene expression of RPS26L in peripheral blood
monocytes:Gene expression of STAT2 in peripheral blood monocytes:Gene
expression of SPRYD4 in peripheral blood monocytes:Gene expression of RPS26
in peripheral blood monocytes:Gene expression of CCDC4 in peripheral blood
monocytes:Height:Advanced age-related macular degeneration:Transmission
distortion:Maternal transmission distortion:Advanced age-related macular
degeneration (geographic atrophy) |
|
12 |
56649601 |
2 |
ANKRD52 |
A |
G |
exonic |
synonymous SNV |
ANKRD52:NM_173595:exon5:c.T429C:p.A143A |
RS1274490 |
Myopia |
|
12 |
56722060 |
2 |
PAN2 |
T |
G |
exonic |
nonsynonymous SNV |
PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L |
|
12 |
56862886 |
2 |
SPRYD4 |
T |
C |
exonic |
nonsynonymous SNV |
SPRYD4:NM_207344:exon2:c.T149C:p.M50T |
|
12 |
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 |
57590869 |
2 |
LRP1 |
T |
C |
exonic |
synonymous SNV |
LRP1:NM_002332:exon56:c.T8997C:p.T2999T |
|
12 |
57994743 |
2 |
PIP4K2C |
T |
G |
exonic |
synonymous SNV |
PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L |
|
12 |
57995089 |
2 |
PIP4K2C |
T |
C |
exonic |
synonymous SNV |
PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A |
|
12 |
58010163 |
1 |
ARHGEF25 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF25:NM_001347933:exon13:c.A1427G:p.Q476R,ARHGEF25:NM_182947:exon14:c.A1517G:p.Q506R,ARHGEF25:NM_001111270:exon15:c.A1634G:p.Q545R |
RS1564374 |
Irritible bowel syndrome:Tardive
dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood glucose:Gene
expression of FAM119B in peripheral blood monocytes:Gene expression of TSFM
in peripheral blood monocytes:Gene expression of TSPAN31 in peripheral blood
monocytes:Gene expression of XRCC6BP1 in peripheral blood
monocytes:Height:Waist hip ratio |
|
12 |
58019472 |
2 |
SLC26A10 |
T |
G |
exonic |
nonsynonymous SNV |
SLC26A10:NM_133489:exon14:c.T1636G:p.L546V |
|
12 |
58149446 |
2 |
9-Mar |
C |
T |
exonic |
synonymous SNV |
MARCH9:NM_138396:exon1:c.C135T:p.G45G |
|
12 |
58335626 |
1 |
ATP23 |
A |
T |
exonic |
nonsynonymous SNV |
ATP23:NM_033276:exon1:c.A142T:p.S48C |
RS3751325 |
Gene expression of KUB3 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of XRCC6BP1 [probe
227678_at] in lymphoblastoid cell lines:2 hour glucose:Fasting blood
glucose:Fasting insulin:HOMA-IR:Lp-PLA2 activity:Lp-PLA2 mass:Rheumatoid
arthritis:Diastolic blood pressure (DBP):Years of education |
|
12 |
62926398 |
1 |
MON2 |
G |
A |
exonic |
synonymous SNV |
MON2:NM_001278469:exon12:c.G1581A:p.S527S,MON2:NM_001278470:exon12:c.G1581A:p.S527S,MON2:NM_001278471:exon12:c.G1581A:p.S527S,MON2:NM_015026:exon12:c.G1581A:p.S527S,MON2:NM_001278472:exon13:c.G1365A:p.S455S |
RS7957417 |
HOMA-B:Rheumatoid arthritis:Autism
with verbal ability:Years of education:College completion |
|
12 |
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 |
68052178 |
1 |
DYRK2 |
G |
T |
exonic |
synonymous SNV |
DYRK2:NM_003583:exon2:c.G1272T:p.G424G,DYRK2:NM_006482:exon3:c.G1491T:p.G497G |
RS3741644 |
HDL cholesterol:Gene expression of
DYRK2 in blood:Aortic valve calcium:Transmission distortion:Infant head
circumference:College completion |
|
12 |
68708761 |
2 |
MDM1 |
C |
T |
exonic |
nonsynonymous SNV |
MDM1:NM_001205028:exon9:c.G1361A:p.R454H,MDM1:NM_017440:exon9:c.G1466A:p.R489H |
RS2306393 |
Triglycerides change with
statins:Serum creatinine:Chronic kidney disease:Cerebrospinal fluid levels of
Phosphorylated tau protein (P-tau181p):Chemosensitivity to targeted regimes
in metastatic colorectal cancer (Cetuximab+5-FU/leucovorin+oxaliplatin regime):Atopy:Allergic
rhinitis:Aortic valve calcium |
|
12 |
68720627 |
2 |
MDM1 |
G |
A |
exonic |
nonsynonymous SNV |
MDM1:NM_001205028:exon3:c.C308T:p.T103I,MDM1:NM_017440:exon3:c.C308T:p.T103I,MDM1:NM_020128:exon3:c.C308T:p.T103I |
RS962976 |
Gamma-glutamyl transferase
(GGT):Triglycerides change with statins:Serum creatinine:Chronic kidney
disease:Cerebrospinal fluid levels of Phosphorylated tau protein
(P-tau181p):Chemosensitivity to targeted regimes in metastatic colorectal
cancer (Cetuximab+5-FU/leucovorin+oxaliplatin regime):Atopy:Allergic
rhinitis:Aortic valve calcium |
|
12 |
68724951 |
2 |
MDM1 |
G |
T |
exonic |
synonymous SNV |
MDM1:NM_001205028:exon2:c.C69A:p.S23S,MDM1:NM_001205029:exon2:c.C69A:p.S23S,MDM1:NM_017440:exon2:c.C69A:p.S23S,MDM1:NM_020128:exon2:c.C69A:p.S23S |
RS3741808 |
Neuroticism:Triglycerides change
with statins:Serum creatinine:Chronic kidney disease:Gene expression of MDM1
in peripheral blood monocytes:Creatinine:trans-Aconitate:Aortic valve calcium |
|
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 |
75900588 |
1 |
KRR1 |
A |
G |
exonic |
synonymous SNV |
KRR1:NM_007043:exon3:c.T367C:p.L123L |
RS2070162 |
Gene expression of GLIPR1 [probe
214085_x_at] in lymphoblastoid cell lines:Gene expression of GLIPR1 [probe
204221_x_at] in lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol |
|
12 |
76449900 |
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 |
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 |
88547277 |
2 |
TMTC3 |
T |
C |
exonic |
synonymous SNV |
TMTC3:NM_181783:exon3:c.T399C:p.H133H |
|
12 |
89743223 |
2 |
DUSP6 |
G |
A |
exonic |
synonymous SNV |
DUSP6:NM_022652:exon2:c.C516T:p.D172D,DUSP6:NM_001946:exon3:c.C954T:p.D318D |
|
12 |
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 |
94972290 |
2 |
TMCC3 |
C |
T |
exonic |
synonymous SNV |
TMCC3:NM_001301036:exon3:c.G918A:p.E306E,TMCC3:NM_020698:exon3:c.G1011A:p.E337E |
RS2270893 |
Rheumatoid arthritis:Parkinson's
disease:Obesity with early age of onset (age >2) |
|
12 |
95044161 |
2 |
TMCC3 |
A |
C |
exonic |
nonsynonymous SNV |
TMCC3:NM_020698:exon1:c.T46G:p.Y16D |
|
12 |
96337183 |
2 |
AMDHD1 |
A |
G |
exonic |
nonsynonymous SNV |
AMDHD1:NM_152435:exon1:c.A7G:p.S3G |
RS7955450 |
LDL cholesterol:Total
cholesterol:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe
cg25229172] in Caudal pons:Triglycerides:Microalbuminuria:Urinary
albumin-to-creatinine ratio:Diastolic blood pressure (DBP) |
|
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 |
105380152 |
2 |
C12orf45 |
A |
C |
exonic |
nonsynonymous SNV |
C12orf45:NM_152318:exon1:c.A22C:p.K8Q |
RS1129593 |
Rheumatoid arthritis:Ankylosing
spondylitis:Advanced age-related macular degeneration:Transmission
distortion:Advanced age-related macular degeneration (geographic
atrophy):Maternal transmission distortion:Aortic valve calcium |
|
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 |
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 |
109182049 |
2 |
SSH1 |
T |
C |
exonic |
synonymous SNV |
SSH1:NM_018984:exon15:c.A2865G:p.T955T |
|
12 |
109675029 |
2 |
ACACB |
T |
C |
exonic |
synonymous SNV |
ACACB:NM_001093:exon33:c.T4506C:p.L1502L |
RS2241220 |
Neuroticism:Abnormal Involuntary
Movement Scale:Cervical cancer:Gene expression of ACACB in blood:PROP taste
detection threshold |
|
12 |
110240838 |
2 |
TRPV4 |
T |
G |
exonic |
synonymous SNV |
TRPV4:NM_001177428:exon3:c.A670C:p.R224R,TRPV4:NM_001177433:exon3:c.A670C:p.R224R,TRPV4:NM_147204:exon3:c.A670C:p.R224R,TRPV4:NM_001177431:exon4:c.A568C:p.R190R,TRPV4:NM_021625:exon4:c.A670C:p.R224R |
RS3825394 |
Rheumatoid
arthritis:Triglycerides:Bipolar disorder |
|
12 |
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 |
112580071 |
1 |
TRAFD1 |
C |
T |
exonic |
synonymous SNV |
TRAFD1:NM_001143906:exon6:c.C822T:p.G274G,TRAFD1:NM_006700:exon6:c.C822T:p.G274G |
RS7970397 |
Gene expression of FLJ39616 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Total
cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP):Coronary artery disease (CAD) |
|
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 |
117465857 |
2 |
FBXW8 |
T |
C |
exonic |
synonymous SNV |
FBXW8:NM_012174:exon11:c.T1479C:p.Y493Y,FBXW8:NM_153348:exon11:c.T1677C:p.Y559Y |
RS4529958 |
Asthma:Infant head
circumference:Obesity with early age of onset (age >2):Hypertension (early
onset hypertension) |
|
12 |
118473054 |
2 |
WSB2 |
T |
C |
exonic |
synonymous SNV |
WSB2:NM_001278558:exon5:c.A279G:p.P93P,WSB2:NM_001278557:exon7:c.A960G:p.P320P,WSB2:NM_018639:exon7:c.A909G:p.P303P |
RS9788041 |
Type 1 diabetes, Rheumatoid
arthritis, Crohn's disease, combined case analysis:Total cholesterol:PROP
taste detection threshold |
|
12 |
120575549 |
2 |
GCN1 |
A |
C |
exonic |
nonsynonymous SNV |
GCN1:NM_006836:exon49:c.T6463G:p.Y2155D |
|
12 |
120589064 |
2 |
GCN1 |
G |
C |
exonic |
synonymous SNV |
GCN1:NM_006836:exon34:c.C4194G:p.A1398A |
|
12 |
120589160 |
2 |
GCN1 |
A |
G |
exonic |
synonymous SNV |
GCN1:NM_006836:exon34:c.T4098C:p.L1366L |
RS2286046 |
Height:Body mass index
(BMI):Diastolic blood pressure (DBP) |
|
12 |
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 |
121174899 |
2 |
ACADS |
T |
C |
exonic |
synonymous SNV |
ACADS:NM_000017:exon3:c.T321C:p.R107R,ACADS:NM_001302554:exon3:c.T321C:p.R107R |
RS3914 |
HOMA-IR:Fasting insulin:Methylation
levels at chr12:119647826-119647876 [hg18 coord, probe cg27522780] in
Temporal cortex:Gene expression of UNC119B (ENSG00000175970) in dendritic
cells:Red blood cell count (RBC):Mean corpuscular volume (MCV):Mean corpuscular
hemoglobin concentration (MCHC):Gene expression of ACADS (ENSG00000122971) in
dendritic cells treated with Mycobacterium tuberculosis |
|
12 |
121176679 |
2 |
ACADS |
C |
T |
exonic |
synonymous SNV |
ACADS:NM_000017:exon8:c.C990T:p.R330R,ACADS:NM_001302554:exon8:c.C978T:p.R326R |
|
12 |
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 |
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 |
122617989 |
1 |
MLXIP |
A |
G |
exonic |
nonsynonymous SNV |
MLXIP:NM_014938:exon9:c.A1187G:p.E396G |
RS7978353 |
HOMA-B:Height:2-Hydroxyisobutyrate
concentration:Advanced age-related macular degeneration (geographic
atrophy):Gene expression of MLXIP in normal prepouch ileum:Infant head
circumference |
|
12 |
122618131 |
2 |
MLXIP |
A |
G |
exonic |
synonymous SNV |
MLXIP:NM_014938:exon9:c.A1329G:p.P443P |
|
12 |
122623000 |
2 |
MLXIP |
T |
C |
exonic |
synonymous SNV |
MLXIP:NM_014938:exon14:c.T2286C:p.T762T |
|
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 |
125441359 |
2 |
DHX37 |
T |
C |
exonic |
synonymous SNV |
DHX37:NM_032656:exon18:c.A2331G:p.T777T |
RS10773127 |
HDL cholesterol:Height |
|
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 |
132402020 |
2 |
ULK1 |
T |
C |
exonic |
synonymous SNV |
ULK1:NM_003565:exon22:c.T2247C:p.P749P |
|
12 |
132403161 |
2 |
ULK1 |
A |
G |
exonic |
nonsynonymous SNV |
ULK1:NM_003565:exon23:c.A2446G:p.T816A |
|
12 |
132445670 |
1 |
EP400 |
G |
A |
exonic |
nonsynonymous SNV |
EP400:NM_015409:exon2:c.G506A:p.G169D |
|
12 |
132446055 |
1 |
EP400 |
A |
G |
exonic |
synonymous SNV |
EP400:NM_015409:exon2:c.A891G:p.T297T |
|
12 |
133160238 |
2 |
FBRSL1 |
G |
C |
exonic |
synonymous SNV |
FBRSL1:NM_001142641:exon17:c.G3012C:p.T1004T |
|
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 |
133943258 |
1 |
|
12 |
149931106 |
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 |
24411772 |
2 |
MIPEP |
T |
C |
exonic |
nonsynonymous SNV |
MIPEP:NM_005932:exon13:c.A1462G:p.S488G |
|
13 |
24798120 |
2 |
SPATA13 |
T |
C |
exonic |
synonymous SNV |
SPATA13:NM_001166271:exon2:c.T1053C:p.L351L,SPATA13:NM_001286792:exon4:c.T1239C:p.L413L |
|
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 |
28143229 |
2 |
LNX2 |
A |
G |
exonic |
nonsynonymous SNV |
LNX2:NM_153371:exon3:c.T592C:p.S198P |
RS8002697 |
Irritible bowel syndrome:Gene
expression of POLR1D in blood cells in Celiac disease:Eur students <30
Delayed Story Recall:HDL cholesterol:Gene expression of POLR1D in
blood:Primary rhegmatogenous retinal detachment |
|
13 |
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 |
35615256 |
1 |
NBEA |
G |
A |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon2:c.G481A:p.E161K |
|
13 |
35624460 |
2 |
NBEA |
A |
T |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon6:c.A900T:p.L300F |
|
13 |
35630202 |
1 |
NBEA |
G |
A |
exonic |
nonsynonymous SNV |
NBEA:NM_015678:exon7:c.G1028A:p.R343Q |
|
13 |
41705495 |
2 |
KBTBD6 |
A |
G |
exonic |
synonymous SNV |
KBTBD6:NM_152903:exon1:c.T1153C:p.L385L |
|
13 |
41834744 |
2 |
MTRF1 |
C |
T |
exonic |
synonymous SNV |
MTRF1:NM_004294:exon2:c.G300A:p.E100E |
RS2297555 |
Childhood acute lymphoblastic
leukemia:Cystatin C in serum:Gene expression of MTRF1 [transcript NM_004294,
probe A_23_P37005] in liver |
|
13 |
41902939 |
2 |
NAA16 |
T |
C |
exonic |
synonymous SNV |
NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N |
RS3812896 |
HOMA-B:College
completion:Adiponectin levels |
|
13 |
46090371 |
1 |
COG3 |
A |
G |
exonic |
nonsynonymous SNV |
COG3:NM_031431:exon17:c.A1903G:p.I635V |
|
13 |
46108853 |
2 |
COG3 |
T |
C |
exonic |
nonsynonymous SNV |
COG3:NM_031431:exon23:c.T2474C:p.L825S |
|
13 |
46541673 |
2 |
ZC3H13 |
T |
A |
exonic |
nonsynonymous SNV |
ZC3H13:NM_001076788:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330564:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330565:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330567:exon15:c.A4287T:p.E1429D,ZC3H13:NM_015070:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330566:exon16:c.A4287T:p.E1429D |
RS9534264 |
LDL cholesterol:Lp-PLA2 mass |
|
13 |
46562935 |
2 |
ZC3H13 |
A |
G |
exonic |
synonymous SNV |
ZC3H13:NM_001076788:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330564:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330565:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330567:exon9:c.T1242C:p.H414H,ZC3H13:NM_015070:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330566:exon10:c.T1242C:p.H414H |
RS1134071 |
LDL cholesterol |
|
13 |
46708291 |
2 |
LCP1 |
T |
C |
exonic |
nonsynonymous SNV |
LCP1:NM_002298:exon14:c.A1597G:p.K533E |
RS4941543 |
Triglycerides change with
statins:Total cholesterol change with statins:Proteomic variation in
lymphoblastoid cell lines (Protein: LCP1, Spot: 687):Proteomic variation in
lymphoblastoid cell lines (Protein: LCP1, Spot: 693):Proteomic variation in
lymphoblastoid cell lines (Protein: LCP1, Spot: 677):Proteomic variation in
lymphoblastoid cell lines (Protein: LCP1, Spot: 675):Paternal transmission
distortion:Proteomic variation in lymphoblastoid cell lines (Protein: LCP1,
Spot: 691):Proteomic variation in lymphoblastoid cell lines (Protein: LCP1,
Spot: 688) |
|
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 |
50080847 |
2 |
PHF11;SETDB2-PHF11 |
A |
G |
exonic |
synonymous SNV |
PHF11:NM_001040443:exon2:c.A171G:p.L57L,PHF11:NM_001040444:exon2:c.A54G:p.L18L,SETDB2-PHF11:NM_001320727:exon12:c.A1653G:p.L551L |
RS2031532 |
Neuroticism:Gene expression of
PHF11 in peripheral blood monocytes:Gene expression of RCBTB1 in peripheral
blood monocytes:Gene expression of DHRS13 in peripheral blood monocytes:Left
ventricular mass (LV mass) index:Gene expression of PHF11 (probeID ILMN_2390162)
in cerebellum in non-Alzheimer's disease samples:Gene expression of PHF11
(probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID
ILMN_2390162) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of RCBTB1 in normal prepouch ileum:Gene expression of PHF11
(probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases:Gene
expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's
disease cases |
|
13 |
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 |
61986918 |
2 |
PCDH20 |
C |
A |
exonic |
synonymous SNV |
PCDH20:NM_022843:exon2:c.G1314T:p.V438V |
RS3812872 |
Age at death with kuru
exposure:Resistance to kuru in aged women despite likely exposure:Refractive
error:Primary rhegmatogenous retinal detachment:Advanced age-related macular
degeneration (geographic atrophy) |
|
13 |
73301728 |
2 |
MZT1 |
T |
C |
exonic |
nonsynonymous SNV |
MZT1:NM_001071775:exon1:c.A13G:p.S5G |
|
13 |
75936519 |
2 |
TBC1D4 |
C |
G |
exonic |
synonymous SNV |
TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G |
|
13 |
76055820 |
1 |
TBC1D4 |
G |
C |
exonic |
synonymous SNV |
TBC1D4:NM_001286658:exon1:c.C84G:p.P28P,TBC1D4:NM_001286659:exon1:c.C84G:p.P28P,TBC1D4:NM_014832:exon1:c.C84G:p.P28P |
RS7327548 |
Total cholesterol:LDL cholesterol |
|
13 |
76378459 |
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 |
76395620 |
1 |
LMO7 |
C |
T |
exonic |
nonsynonymous SNV |
LMO7:NM_015842:exon11:c.C1816T:p.R606C,LMO7:NM_001330583:exon12:c.C1816T:p.R606C,LMO7:NM_005358:exon13:c.C1669T:p.R557C,LMO7:NM_001306080:exon14:c.C2515T:p.R839C |
RS9593132 |
Variant Creutzfeldt-Jakob
disease:Years of education:Birth weight |
|
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 |
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 |
111298392 |
2 |
CARS2 |
A |
G |
exonic |
synonymous SNV |
CARS2:NM_024537:exon12:c.T1239C:p.D413D |
RS436462 |
Differential exon level expression
of CARS2 [probe 3525564] in brain cortex:Differential exon level expression
of CARS2 [probe 3525564] in peripheral blood mononuclear cells:Gene
expression of CARS2 [probe 3525538] in peripheral blood mononuclear cells |
|
13 |
111319754 |
2 |
CARS2 |
T |
C |
exonic |
synonymous SNV |
CARS2:NM_024537:exon8:c.A852G:p.E284E |
|
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 |
113818900 |
2 |
PROZ |
A |
G |
exonic |
synonymous SNV |
PROZ:NM_003891:exon5:c.A447G:p.T149T,PROZ:NM_001256134:exon6:c.A513G:p.T171T |
|
13 |
113965176 |
2 |
LAMP1 |
C |
A |
exonic |
synonymous SNV |
LAMP1:NM_005561:exon4:c.C556A:p.R186R |
RS9577503 |
Cystatin C in serum |
|
14 |
20770036 |
2 |
TTC5 |
T |
C |
exonic |
nonsynonymous SNV |
TTC5:NM_138376:exon2:c.A140G:p.Q47R |
RS3742945 |
Triglycerides:Differential exon
level expression of PARP2 [probe 3527423] in brain cortex:Differential exon
level expression of TEP1 [probe 3555416] in brain cortex:Differential exon
level expression of PARP2 [probe 3527423] in peripheral blood mononuclear
cells:Serum creatinine:Gene expression of TTC5 in peripheral blood
monocytes:Gene expression of PARP2 in peripheral blood monocytes:Gene
expression of RPPH1 in peripheral blood monocytes:Gene expression of TTC5 in
blood:Obesity with early age of onset (age >2) |
|
14 |
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 |
20916958 |
1 |
OSGEP |
T |
C |
exonic |
synonymous SNV |
OSGEP:NM_017807:exon6:c.A570G:p.L190L |
RS938883 |
Fasting blood glucose:PROP taste
detection threshold:Birth weight:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (geographic atrophy) |
|
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 |
21871653 |
2 |
CHD8 |
C |
T |
exonic |
synonymous SNV |
CHD8:NM_001170629:exon16:c.G3477A:p.V1159V,CHD8:NM_020920:exon17:c.G2640A:p.V880V |
RS8022395 |
HOMA-B |
|
14 |
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 |
21960816 |
1 |
TOX4 |
T |
C |
exonic |
synonymous SNV |
TOX4:NM_001303523:exon6:c.T972C:p.L324L,TOX4:NM_014828:exon7:c.T1041C:p.L347L |
|
14 |
21960969 |
1 |
TOX4 |
G |
A |
exonic |
synonymous SNV |
TOX4:NM_001303523:exon6:c.G1125A:p.R375R,TOX4:NM_014828:exon7:c.G1194A:p.R398R |
|
14 |
23236524 |
1 |
OXA1L |
C |
T |
exonic |
nonsynonymous SNV |
OXA1L:NM_005015:exon2:c.C311T:p.A104V |
RS8572 |
Fasting blood glucose:Rheumatoid
arthritis:Gene expression of PRMT5 in blood:Gene expression of OXA1L in
blood:Paternal transmission distortion:Transmission distortion:Amyotrophic
lateral sclerosis (ALS) age of onset:Obesity with early age of onset (age >2) |
|
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 |
23777374 |
2 |
BCL2L2;BCL2L2-PABPN1 |
A |
G |
exonic |
nonsynonymous SNV |
BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R |
RS910332 |
Systolic blood pressure (SBP):Birth
weight |
|
14 |
23944505 |
2 |
NGDN |
G |
A |
exonic |
synonymous SNV |
NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V |
RS2236260 |
Total cholesterol:LDL
cholesterol:Salmonella-induced pyroptosis |
|
14 |
23944514 |
2 |
NGDN |
C |
A |
exonic |
synonymous SNV |
NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R |
|
14 |
24567498 |
2 |
PCK2 |
A |
C |
exonic |
nonsynonymous SNV |
PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P |
|
14 |
24587639 |
1 |
DCAF11 |
G |
A |
exonic |
nonsynonymous SNV |
DCAF11:NM_001163484:exon7:c.G620A:p.R207H,DCAF11:NM_025230:exon7:c.G620A:p.R207H,DCAF11:NM_181357:exon7:c.G542A:p.R181H |
RS3825584 |
Gene expression of FAM158A [probe
219203_at] in lymphoblastoid cell lines:Gene expression of PXMP4 in
peripheral blood monocytes:Gene expression of WBSCR19 in peripheral blood
monocytes:Height:Transmission distortion:Mitral annular calcium |
|
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 |
24653523 |
1 |
IPO4 |
G |
C |
exonic |
nonsynonymous SNV |
IPO4:NM_024658:exon17:c.C1738G:p.P580A |
RS11550452 |
Cystatin C in serum |
|
14 |
24653954 |
1 |
IPO4 |
G |
A |
exonic |
nonsynonymous SNV |
IPO4:NM_024658:exon16:c.C1538T:p.A513V |
RS7146310 |
Differential exon level expression
of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Spatial working
memory strategy:Triglycerides change with statins:Triglycerides change with
statins:Autism:Autism with low IQ:Height:Neuroblastoma (brain cancer):Gene
expression of REC8 [transcript NM_001048205, probe A_24_P344087] in
liver:Gene expression of IRF9 in blood:Gene expression of REC8///IPO4 in
blood:Gene expression of TM9SF1 (probeID ILMN_2253300) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of TM9SF1 (probeID
ILMN_2253300) in temporal cortex in Alzheimer's disease cases and
controls:College completion:Years of education:Tetrology of fallot |
|
14 |
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 |
30066929 |
1 |
PRKD1 |
A |
G |
exonic |
synonymous SNV |
PRKD1:NM_002742:exon16:c.T2202C:p.I734I,PRKD1:NM_001330069:exon17:c.T2226C:p.I742I,PRKD1:NM_001348390:exon17:c.T1938C:p.I646I |
RS2230505 |
Refractive error |
|
14 |
31099738 |
2 |
SCFD1 |
A |
G |
exonic |
nonsynonymous SNV |
SCFD1:NM_016106:exon3:c.A188G:p.K63R |
RS229150 |
Differential exon level expression
of SCFD1 [probe 3531038] in peripheral blood mononuclear cells:Partial
epilepsy:Autism with low IQ:Gene expression of KIAA1333 in blood:Gene
expression of SCFD1 in blood:Gene expression of SCFD1 [probeset 215548_s_at]
in sputum |
|
14 |
31582380 |
2 |
HECTD1 |
A |
G |
exonic |
nonsynonymous SNV |
HECTD1:NM_015382:exon34:c.T6080C:p.L2027P |
|
14 |
31582526 |
1 |
HECTD1 |
T |
C |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon33:c.A6021G:p.L2007L |
RS2273483 |
Total cholesterol:Body mass index
(BMI):Gene expression of AP4S1 [transcript NM_007077, probe A_24_P12281] in
liver:College completion:Prostate cancer |
|
14 |
31619392 |
1 |
HECTD1 |
T |
C |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon13:c.A1968G:p.Q656Q |
RS11620816 |
Abnormal Involuntary Movement
Scale:Lp-PLA2 activity:Prostate cancer:Birth weight |
|
14 |
31647241 |
1 |
HECTD1 |
G |
A |
exonic |
synonymous SNV |
HECTD1:NM_015382:exon3:c.C360T:p.A120A |
RS2274201 |
Premature ovarian failure:Lp-PLA2
activity:Prostate cancer |
|
14 |
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 |
36191030 |
1 |
RALGAPA1 |
A |
G |
exonic |
synonymous SNV |
RALGAPA1:NM_001283043:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001283044:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001330075:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346243:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346245:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346246:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346247:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346248:exon16:c.T2130C:p.V710V,RALGAPA1:NM_001346249:exon16:c.T2130C:p.V710V,RALGAPA1:NM_014990:exon16:c.T2130C:p.V710V,RALGAPA1:NM_194301:exon16:c.T2130C:p.V710V |
RS2296168 |
HDL cholesterol:Triglycerides:Infant
head circumference |
|
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 |
39818028 |
1 |
MIA2 |
A |
G |
exonic |
nonsynonymous SNV |
MIA2:NM_001247988:exon22:c.A1879G:p.I627V,MIA2:NM_203355:exon22:c.A1966G:p.I656V,MIA2:NM_001247989:exon23:c.A2110G:p.I704V,MIA2:NM_001247990:exon23:c.A1870G:p.I624V,MIA2:NM_005930:exon23:c.A2095G:p.I699V,MIA2:NM_203354:exon23:c.A2059G:p.I687V,MIA2:NM_203356:exon23:c.A2008G:p.I670V,MIA2:NM_001329214:exon28:c.A3919G:p.I1307V |
RS1140952 |
Barnes Akathisia Rating
Scale:Chronic kidney disease |
|
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 |
50583083 |
1 |
VCPKMT |
G |
T |
exonic |
nonsynonymous SNV |
VCPKMT:NM_001040662:exon1:c.C188A:p.A63D,VCPKMT:NM_024558:exon1:c.C188A:p.A63D |
|
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 |
51716467 |
2 |
TMX1 |
G |
A |
exonic |
synonymous SNV |
TMX1:NM_030755:exon7:c.G648A:p.P216P |
|
14 |
52520368 |
2 |
NID2 |
C |
T |
exonic |
nonsynonymous SNV |
NID2:NM_007361:exon5:c.G1358A:p.G453D |
RS2101919 |
Arthritis including
non-Rheumatoid:Tardive dyskinesia:LDL cholesterol:Total cholesterol:Systolic
blood pressure (SBP):Coronary artery disease (CAD):Adiponectin levels |
|
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 |
53345378 |
1 |
FERMT2 |
G |
A |
exonic |
synonymous SNV |
FERMT2:NM_001134999:exon7:c.C885T:p.Y295Y,FERMT2:NM_001135000:exon7:c.C885T:p.Y295Y,FERMT2:NM_006832:exon7:c.C885T:p.Y295Y |
RS2357947 |
Major depressive
disorder:HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):Systolic blood
pressure (SBP):Bipolar disorder |
|
14 |
53619544 |
1 |
DDHD1 |
G |
A |
exonic |
synonymous SNV |
DDHD1:NM_001160147:exon1:c.C273T:p.F91F,DDHD1:NM_001160148:exon1:c.C273T:p.F91F,DDHD1:NM_030637:exon1:c.C273T:p.F91F |
RS2358189 |
HOMA-B:HDL cholesterol:Height |
|
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 |
58917454 |
2 |
KIAA0586 |
G |
A |
exonic |
synonymous SNV |
KIAA0586:NM_001244193:exon5:c.G699A:p.S233S,KIAA0586:NM_001244191:exon8:c.G864A:p.S288S,KIAA0586:NM_001329943:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329944:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329945:exon8:c.G864A:p.S288S,KIAA0586:NM_001329946:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329947:exon8:c.G1119A:p.S373S,KIAA0586:NM_014749:exon8:c.G1119A:p.S373S,KIAA0586:NM_001244190:exon9:c.G1074A:p.S358S,KIAA0586:NM_001244192:exon9:c.G987A:p.S329S,KIAA0586:NM_001244189:exon10:c.G1278A:p.S426S |
|
14 |
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 |
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 |
64491695 |
2 |
SYNE2 |
T |
C |
exonic |
nonsynonymous SNV |
SYNE2:NM_015180:exon40:c.T5906C:p.M1969T,SYNE2:NM_182914:exon40:c.T5906C:p.M1969T |
RS4902264 |
Lp-PLA2 mass:Asthma:Body mass index
(BMI):Late onset Alzheimer's disease:PROP taste detection threshold:Bipolar
disorder:Tetrology of fallot:Hypertension (early onset hypertension):Birth
weight |
|
14 |
64494278 |
2 |
SYNE2 |
C |
T |
exonic |
synonymous SNV |
SYNE2:NM_015180:exon43:c.C6481T:p.L2161L,SYNE2:NM_182914:exon43:c.C6481T:p.L2161L |
RS10151127 |
LDL cholesterol:Body mass index
(BMI):Birth weight |
|
14 |
64498037 |
2 |
SYNE2 |
G |
A |
exonic |
nonsynonymous SNV |
SYNE2:NM_015180:exon45:c.G7183A:p.A2395T,SYNE2:NM_182914:exon45:c.G7183A:p.A2395T |
RS4027405 |
LDL cholesterol:Asthma:Body mass
index (BMI):Late onset Alzheimer's disease:Birth weight |
|
14 |
64519455 |
2 |
SYNE2 |
A |
G |
exonic |
nonsynonymous SNV |
SYNE2:NM_015180:exon48:c.A8824G:p.I2942V,SYNE2:NM_182914:exon48:c.A8824G:p.I2942V |
RS3829767 |
LDL cholesterol:Differential exon
level expression of SYNE2 [probe 3539824] in peripheral blood mononuclear
cells:Simpson-Angus Scale:Fasting insulin:HOMA-B:Lp-PLA2 mass:Asthma:Body
mass index (BMI):Late onset Alzheimer's disease:Bipolar disorder:Birth weight:Hypertension
(early onset hypertension) |
|
14 |
64522843 |
2 |
SYNE2 |
A |
G |
exonic |
nonsynonymous SNV |
SYNE2:NM_015180:exon49:c.A9926G:p.H3309R,SYNE2:NM_182914:exon49:c.A9926G:p.H3309R |
RS8010699 |
LDL cholesterol:Differential exon
level expression of SYNE2 [probe 3539824] in peripheral blood mononuclear
cells:Simpson-Angus Scale:Fasting insulin:HOMA-B:Lp-PLA2 mass:Asthma:Body
mass index (BMI):Late onset Alzheimer's disease:Prostate cancer:Birth weight:Hypertension
(early onset hypertension) |
|
14 |
71444788 |
2 |
PCNX1 |
G |
A |
exonic |
synonymous SNV |
PCNX1:NM_001308160:exon6:c.G1734A:p.R578R,PCNX1:NM_014982:exon6:c.G1734A:p.R578R |
RS3814871 |
Gene expression of PCNX [probe
215175_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Longstanding
arthritis:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Serum
creatinine:Autism with high IQ:HDL cholesterol:Late onset Alzheimer's
disease:Gene expression of PCNX in blood:Systolic blood pressure
(SBP):Bipolar disorder:College completion:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
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 |
75483812 |
2 |
MLH3 |
T |
C |
exonic |
synonymous SNV |
MLH3:NM_014381:exon12:c.A4263G:p.Q1421Q,MLH3:NM_001040108:exon13:c.A4335G:p.Q1445Q |
RS13712 |
Gene expression of MLH3 [probe
204838_s_at] in lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Total
cholesterol change with statins:Height:Comorbid depressive syndrome and
alcohol dependence:Advanced age-related macular degeneration:Gene expression
of MLH3 (probeID ILMN_1693107) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of EIF2B2 (ENSG00000119718) in dendritic cells:Gene
expression of MLH3 (probeID ILMN_1693107) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of RPS6KL1 (ENSG00000198208) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression
change of RPS6KL1 (ENSG00000198208) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of MLH3 (probeID ILMN_2282282) in
cerebellum in Alzheimer's disease cases and controls:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD:Years of
education:Gene expression of MLH3 (probeID ILMN_2282282) in temporal cortex
in Alzheimer's disease cases and controls:Parkinson's disease |
|
14 |
75513883 |
2 |
MLH3 |
T |
C |
exonic |
nonsynonymous SNV |
MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D |
|
14 |
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 |
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 |
86088056 |
2 |
FLRT2 |
T |
C |
exonic |
synonymous SNV |
FLRT2:NM_001346143:exon2:c.T198C:p.T66T,FLRT2:NM_001346144:exon2:c.T198C:p.T66T,FLRT2:NM_001346145:exon2:c.T198C:p.T66T,FLRT2:NM_001346146:exon2:c.T198C:p.T66T,FLRT2:NM_013231:exon2:c.T198C:p.T66T |
|
14 |
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 |
88407888 |
2 |
GALC |
A |
G |
exonic |
nonsynonymous SNV |
GALC:NM_001201401:exon14:c.T1616C:p.I539T,GALC:NM_000153:exon15:c.T1685C:p.I562T,GALC:NM_001201402:exon15:c.T1607C:p.I536T |
RS398607 |
Differential exon level expression
of GALC [probe 3575125] in peripheral blood mononuclear cells:Tardive
dyskinesia:Alzheimer's disease:Total cholesterol:Asthma:High myopia:Gene
expression of GALC [probe ILMN_138917] in untreated osteoblasts:Gene expression
of GALC in blood:Tourette's syndrome:Gene expression of GALC (probeID
ILMN_2415572) in cerebellum in Progressive Supranuclear Palsy cases:Gene
expression of GALC (probeID ILMN_2415572) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of GALC (probeID ILMN_2415572) in
temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of
GALC (probeID ILMN_2415572) in cerebellum in Alzheimer's disease cases:Gene
expression of GALC (probeID ILMN_2415572) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of GALC (probeID ILMN_2415572) in
temporal cortex in Alzheimer's disease cases:Gene expression of GALC (probeID
ILMN_2415572) in cerebellum in non-Alzheimer's disease samples |
|
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 |
90730071 |
2 |
PSMC1 |
C |
T |
exonic |
synonymous SNV |
PSMC1:NM_002802:exon5:c.C345T:p.I115I,PSMC1:NM_001330212:exon6:c.C126T:p.I42I |
|
14 |
91123575 |
2 |
TTC7B |
T |
C |
exonic |
synonymous SNV |
TTC7B:NM_001010854:exon11:c.A1284G:p.P428P,TTC7B:NM_001320421:exon11:c.A978G:p.P326P |
|
14 |
92347680 |
2 |
FBLN5 |
A |
G |
exonic |
synonymous SNV |
FBLN5:NM_006329:exon9:c.T945C:p.I315I |
RS2430347 |
Refractive error |
|
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 |
95053890 |
2 |
SERPINA5 |
G |
A |
exonic |
nonsynonymous SNV |
SERPINA5:NM_000624:exon3:c.G191A:p.S64N |
RS6115 |
Height:Urinary albumin-to-creatinine
ratio |
|
14 |
96771959 |
2 |
ATG2B |
A |
G |
exonic |
nonsynonymous SNV |
ATG2B:NM_018036:exon31:c.T4700C:p.I1567T |
RS2289622 |
Eye color:Aortic valve calcium |
|
14 |
96922752 |
2 |
AK7 |
C |
G |
exonic |
nonsynonymous SNV |
AK7:NM_001350891:exon10:c.C1089G:p.N363K,AK7:NM_001350888:exon11:c.C1167G:p.N389K,AK7:NM_001350890:exon11:c.C1167G:p.N389K,AK7:NM_001350892:exon11:c.C1167G:p.N389K,AK7:NM_152327:exon11:c.C1167G:p.N389K |
RS2369679 |
HDL cholesterol change with
statins:Serum creatinine:Infant head circumference |
|
14 |
100380948 |
2 |
EML1 |
T |
C |
exonic |
nonsynonymous SNV |
EML1:NM_004434:exon15:c.T1666C:p.S556P,EML1:NM_001008707:exon16:c.T1723C:p.S575P |
RS2250718 |
LDL cholesterol:PROP taste
detection threshold:Hypertension (early onset hypertension):Years of
education:College completion |
|
14 |
100759046 |
2 |
SLC25A29 |
C |
A |
exonic |
synonymous SNV |
SLC25A29:NM_152333:exon3:c.G288T:p.T96T,SLC25A29:NM_001039355:exon4:c.G486T:p.T162T,SLC25A29:NM_001291813:exon5:c.G288T:p.T96T,SLC25A29:NM_001291814:exon5:c.G288T:p.T96T |
|
14 |
100759277 |
2 |
SLC25A29 |
C |
T |
exonic |
synonymous SNV |
SLC25A29:NM_152333:exon3:c.G57A:p.R19R,SLC25A29:NM_001039355:exon4:c.G255A:p.R85R,SLC25A29:NM_001291813:exon5:c.G57A:p.R19R,SLC25A29:NM_001291814:exon5:c.G57A:p.R19R |
|
14 |
100847523 |
2 |
WDR25 |
T |
C |
exonic |
nonsynonymous SNV |
WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R |
|
14 |
100996312 |
2 |
WDR25 |
T |
C |
exonic |
synonymous SNV |
WDR25:NM_001350950:exon6:c.T795C:p.Y265Y,WDR25:NM_001161476:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350947:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350948:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350949:exon7:c.T819C:p.Y273Y,WDR25:NM_024515:exon7:c.T1569C:p.Y523Y |
|
14 |
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 |
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 |
105461067 |
2 |
C14orf79 |
C |
T |
exonic |
synonymous SNV |
C14orf79:NM_174891:exon5:c.C949T:p.L317L |
RS894039 |
Spine bone mineral density
(BMD):Eye color:HOMA-B:Gene expression of TEAD4 in peripheral blood
monocytes:Gene expression of NFAM1 in peripheral blood monocytes:Gene
expression of CDCA4 in CD4+ lymphocytes:Gene expression of [probe 7610494
centered at chr14:104548276] in blood:Gene expression of CDCA4 in blood:Age
at death with kuru exposure:Sporadic Creutzfeldt-Jakob disease:Years of
education:Gene expression of CDCA4 (probeID ILMN_1753183) in cerebellum in
Alzheimer's disease cases and controls |
|
14 |
105477613 |
2 |
CDCA4 |
T |
C |
exonic |
synonymous SNV |
CDCA4:NM_017955:exon2:c.A654G:p.P218P,CDCA4:NM_145701:exon2:c.A654G:p.P218P |
|
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 |
105617042 |
2 |
JAG2 |
C |
T |
exonic |
nonsynonymous SNV |
JAG2:NM_145159:exon11:c.G1387A:p.E463K,JAG2:NM_002226:exon12:c.G1501A:p.E501K |
RS1057744 |
Gene expression of NUDT14 in
Frontal cortex:Gene expression of NUDT14 in Temporal cortex:Gene expression
of NUDT14 in normal prepouch ileum |
|
14 |
105916420 |
2 |
MTA1 |
C |
T |
exonic |
synonymous SNV |
MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N |
RS4983409 |
Urinary albumin-to-creatinine ratio |
|
15 |
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 |
28518102 |
1 |
HERC2 |
C |
T |
exonic |
synonymous SNV |
HERC2:NM_004667:exon8:c.G849A:p.L283L |
|
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 |
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 |
40313141 |
2 |
EIF2AK4 |
C |
T |
exonic |
synonymous SNV |
EIF2AK4:NM_001013703:exon31:c.C4215T:p.G1405G |
RS3207297 |
Gene expression of EIF2AK4 [probe
237145_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Longstanding
arthritis:Arthritis including non-Rheumatoid:HOMA-IR:Fasting blood
glucose:Fasting insulin |
|
15 |
40328575 |
2 |
SRP14 |
G |
C |
exonic |
nonsynonymous SNV |
SRP14:NM_003134:exon5:c.C370G:p.P124A,SRP14:NM_001309434:exon6:c.C226G:p.P76A |
RS7535 |
Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration
(geographic atrophy) |
|
15 |
40328665 |
2 |
SRP14 |
G |
A |
exonic |
synonymous SNV |
SRP14:NM_003134:exon5:c.C280T:p.L94L,SRP14:NM_001309434:exon6:c.C136T:p.L46L |
|
15 |
40330564 |
2 |
SRP14 |
C |
T |
exonic |
synonymous SNV |
SRP14:NM_003134:exon3:c.G129A:p.K43K |
|
15 |
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 |
42135988 |
2 |
JMJD7-PLA2G4B;PLA2G4B |
C |
T |
exonic |
synonymous SNV |
PLA2G4B:NM_001114633:exon11:c.C858T:p.D286D,JMJD7-PLA2G4B:NM_001198588:exon16:c.C1551T:p.D517D,JMJD7-PLA2G4B:NM_005090:exon16:c.C1551T:p.D517D |
RS1672466 |
Body mass index (BMI):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 |
43724646 |
2 |
TP53BP1 |
T |
G |
exonic |
nonsynonymous SNV |
TP53BP1:NM_001141979:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_001141980:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_005657:exon17:c.A3406C:p.K1136Q |
RS2602141 |
Gene expression of ELL3 in CHB
lymphoblastoid cell lines:Biploar disorder (bipolar schizoaffective
disorder):Childhood acute lymphoblastic leukemia:Methylation levels at
chr15:41449199-41449249 [hg18 coord, probe cg12784172] in Cerebellum:Gene
expression of STRC in peripheral blood monocytes:Gene expression of ZSCAN29
in peripheral blood monocytes:Triglycerides:Body mass index
(BMI):Neuroblastoma (brain cancer):Parkinson's disease (PD):Gene expression
of CKMT1B///STRC///CKMT1A///ENST00000381686///HISPPD2A in blood:Gene
expression of TUBGCP4 in blood:Diastolic blood pressure (DBP):Systolic blood
pressure (SBP):Sporadic Creutzfeldt-Jakob disease:Gene expression of ZSCAN29
(probeID ILMN_1691772) in cerebellum in Alzheimer's disease cases:Gene
expression of ADAL in normal prepouch ileum:College completion:Gene
expression of ZSCAN29 (probeID ILMN_1691772) in cerebellum in non-Alzheimer's
disease samples:Gene expression of ZSCAN29 (probeID ILMN_1691772) in temporal
cortex in Progressive Supranuclear Palsy cases:Years of education:Gene
expression of ZSCAN29 (probeID ILMN_1691772) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of ZSCAN29 (probeID
ILMN_1691772) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZSCAN29 (probeID ILMN_1691772) in cerebellum in Progressive
Supranuclear Palsy cases:Gene expression of ZSCAN29 (probeID ILMN_1691772) in
temporal cortex in Alzheimer's disease cases |
|
15 |
43748304 |
2 |
TP53BP1 |
A |
G |
exonic |
synonymous SNV |
TP53BP1:NM_001141979:exon12:c.T2502C:p.D834D,TP53BP1:NM_001141980:exon12:c.T2502C:p.D834D,TP53BP1:NM_005657:exon12:c.T2487C:p.D829D |
RS690367 |
Gene expression of ELL3 in CHB
lymphoblastoid cell lines:Biploar disorder (bipolar schizoaffective
disorder):Childhood acute lymphoblastic leukemia:Methylation levels at
chr15:41449199-41449249 [hg18 coord, probe cg12784172] in Cerebellum:Gene
expression of ZSCAN29 in peripheral blood monocytes:Gene expression of STRC
in peripheral blood monocytes:Triglycerides:Body mass index (BMI):Diastolic
blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease:Gene
expression of ADAL in normal prepouch ileum:College completion:Plasma alpha
fetoprotein (AFP) levels:Gene expression of ZSCAN29 (probeID ILMN_1691772) in
cerebellum in Alzheimer's disease cases and controls:Years of education:Gene
expression of ZSCAN29 (probeID ILMN_1691772) in temporal cortex in
Alzheimer's disease cases and controls |
|
15 |
43767774 |
2 |
TP53BP1 |
G |
C |
exonic |
nonsynonymous SNV |
TP53BP1:NM_001141979:exon9:c.C1074G:p.D358E,TP53BP1:NM_001141980:exon9:c.C1074G:p.D358E,TP53BP1:NM_005657:exon9:c.C1059G:p.D353E |
RS560191 |
Gene expression of ELL3 in CHB
lymphoblastoid cell lines:Methylation levels at chr15:41449199-41449249 [hg18
coord, probe cg12784172] in Cerebellum:Triglycerides:Body mass index
(BMI):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):College completion:Parkinson's
disease:Years of education |
|
15 |
43863658 |
2 |
PPIP5K1 |
A |
G |
exonic |
synonymous SNV |
PPIP5K1:NM_001130859:exon24:c.T2907C:p.L969L,PPIP5K1:NM_014659:exon24:c.T2907C:p.L969L,PPIP5K1:NM_001130858:exon25:c.T2919C:p.L973L,PPIP5K1:NM_001190214:exon25:c.T2907C:p.L969L |
|
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 |
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 |
52689526 |
2 |
MYO5A |
T |
C |
exonic |
synonymous SNV |
MYO5A:NM_000259:exon10:c.A1191G:p.T397T,MYO5A:NM_001142495:exon10:c.A1191G:p.T397T |
RS2924130 |
Salmonella-induced pyroptosis |
|
15 |
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 |
56152729 |
2 |
NEDD4 |
T |
C |
exonic |
nonsynonymous SNV |
NEDD4:NM_198400:exon4:c.A1877G:p.N626S,NEDD4:NM_001284340:exon6:c.A2042G:p.N681S,NEDD4:NM_001284338:exon7:c.A2093G:p.N698S,NEDD4:NM_001284339:exon7:c.A2045G:p.N682S,NEDD4:NM_001329212:exon11:c.A395G:p.N132S,NEDD4:NM_006154:exon11:c.A836G:p.N279S |
RS2303579 |
Arthritis including
non-Rheumatoid:Longstanding arthritis:Simpson-Angus Scale:Barnes Akathisia
Rating Scale:Asthma |
|
15 |
56152872 |
2 |
NEDD4 |
C |
T |
exonic |
nonsynonymous SNV |
NEDD4:NM_198400:exon3:c.G1820A:p.R607Q,NEDD4:NM_001284340:exon5:c.G1985A:p.R662Q,NEDD4:NM_001284338:exon6:c.G2036A:p.R679Q,NEDD4:NM_001284339:exon6:c.G1988A:p.R663Q,NEDD4:NM_001329212:exon10:c.G338A:p.R113Q,NEDD4:NM_006154:exon10:c.G779A:p.R260Q |
RS2303580 |
Bipolar disorder:Simpson-Angus
Scale:Barnes Akathisia Rating Scale:Gene expression of CCPG1 [probe
221511_x_at] in prefrontal cortex:Gene expression of NEDD4 in peripheral
blood monocytes:Serum metabolite (mass spec peak: 127 m/z):Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
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 |
59510189 |
2 |
MYO1E |
G |
A |
exonic |
synonymous SNV |
MYO1E:NM_004998:exon10:c.C1008T:p.S336S |
RS2230155 |
Type 2 diabetes, combined control
dataset:Triglycerides change with statins:HDL
cholesterol:Triglycerides:Height:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
15 |
62259637 |
2 |
VPS13C |
C |
T |
exonic |
nonsynonymous SNV |
VPS13C:NM_017684:exon27:c.G2792A:p.R931K,VPS13C:NM_018080:exon27:c.G2792A:p.R931K,VPS13C:NM_001018088:exon29:c.G2921A:p.R974K,VPS13C:NM_020821:exon29:c.G2921A:p.R974K |
RS3784634 |
Schizophrenia:2 hour glucose:HDL
cholesterol change with statins:Height:Years of education:Mitral annular
calcium |
|
15 |
64385851 |
2 |
FAM96A |
T |
C |
exonic |
synonymous SNV |
FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E |
|
15 |
64418397 |
2 |
SNX1 |
G |
A |
exonic |
synonymous SNV |
SNX1:NM_148955:exon4:c.G435A:p.P145P,SNX1:NM_001242933:exon6:c.G630A:p.P210P,SNX1:NM_003099:exon6:c.G630A:p.P210P |
RS1130603 |
Years of education |
|
15 |
64915106 |
2 |
ZNF609 |
C |
T |
exonic |
synonymous SNV |
ZNF609:NM_015042:exon2:c.C828T:p.P276P |
|
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 |
69561518 |
2 |
GLCE |
G |
A |
exonic |
nonsynonymous SNV |
GLCE:NM_001324092:exon4:c.G1018A:p.V340I,GLCE:NM_015554:exon5:c.G1789A:p.V597I,GLCE:NM_001324093:exon6:c.G1789A:p.V597I,GLCE:NM_001324094:exon6:c.G1789A:p.V597I |
RS3865014 |
Coronary artery disease
(CAD):Stabilized warfarin dose:Rheumatoid arthritis:HDL
cholesterol:Triglycerides change with statins:Body mass index (BMI):PROP
taste detection threshold:Bipolar disorder:Obesity with early age of onset
(age >2):Aortic valve calcium:Advanced age-related macular degeneration
(geographic atrophy):Advanced age-related macular degeneration |
|
15 |
71125204 |
2 |
LARP6 |
A |
G |
exonic |
synonymous SNV |
LARP6:NM_001286679:exon3:c.T111C:p.F37F,LARP6:NM_018357:exon3:c.T663C:p.F221F |
RS1549317 |
Irritible bowel syndrome:HOMA-B:LDL
cholesterol:Total cholesterol:HDL cholesterol change with statins:Total
cholesterol change with statins:LDL cholesterol change with statins:Sporadic
Creutzfeldt-Jakob disease:Advanced age-related macular degeneration |
|
15 |
71184495 |
2 |
THAP10 |
A |
G |
exonic |
synonymous SNV |
THAP10:NM_020147:exon1:c.T117C:p.G39G |
RS2955035 |
Total cholesterol:LDL
cholesterol:LDL cholesterol change with statins:Advanced age-related macular
degeneration:Mitral annular calcium |
|
15 |
72191266 |
2 |
MYO9A |
C |
T |
exonic |
nonsynonymous SNV |
MYO9A:NM_006901:exon25:c.G3578A:p.G1193E |
RS2415129 |
Triglycerides:HOMA-B:Fasting
insulin:Disease-free survival in gastric cancer patients |
|
15 |
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 |
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 |
75131661 |
2 |
ULK3 |
A |
G |
exonic |
synonymous SNV |
ULK3:NM_001099436:exon8:c.T906C:p.A302A,ULK3:NM_001284364:exon8:c.T906C:p.A302A,ULK3:NM_001284365:exon8:c.T555C:p.A185A |
RS4886615 |
Gene expression of ULK3 in
liver:Carboplatin-induced neutropenia/leukopenia in cancer patients |
|
15 |
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 |
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 |
90168108 |
2 |
TICRR |
C |
T |
exonic |
nonsynonymous SNV |
TICRR:NM_001308025:exon20:c.C4564T:p.R1522C,TICRR:NM_152259:exon20:c.C4567T:p.R1523C |
RS894157 |
Gene expression of ZNF238 in
peripheral blood monocytes:Gene expression of MESP1 in peripheral blood
monocytes:Gene expression of MESP1 in blood:Gene expression of ANPEP in
blood:Fasting serum IGF-1 free (ng/mL) in children:Primary rhegmatogenous
retinal detachment |
|
15 |
90195967 |
2 |
KIF7 |
C |
G |
exonic |
synonymous SNV |
KIF7:NM_198525:exon2:c.G195C:p.A65A |
|
15 |
90768959 |
2 |
SEMA4B |
A |
C |
exonic |
synonymous SNV |
SEMA4B:NM_001324029:exon11:c.A1174C:p.R392R,SEMA4B:NM_001324030:exon12:c.A1120C:p.R374R,SEMA4B:NM_001324032:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324034:exon12:c.A1618C:p.R540R,SEMA4B:NM_198925:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324031:exon13:c.A1747C:p.R583R,SEMA4B:NM_001324033:exon13:c.A1120C:p.R374R,SEMA4B:NM_020210:exon13:c.A1588C:p.R530R |
|
15 |
90771704 |
2 |
SEMA4B |
G |
A |
exonic |
synonymous SNV |
SEMA4B:NM_001324029:exon13:c.G1929A:p.P643P,SEMA4B:NM_001324030:exon14:c.G1875A:p.P625P,SEMA4B:NM_001324034:exon14:c.G2373A:p.P791P,SEMA4B:NM_198925:exon14:c.G2343A:p.P781P,SEMA4B:NM_001324031:exon15:c.G2502A:p.P834P,SEMA4B:NM_001324033:exon15:c.G1875A:p.P625P,SEMA4B:NM_020210:exon15:c.G2343A:p.P781P |
RS3751656 |
Serum creatinine:Gene expression of
SEMA4B///CIB1 in blood:Antisocial behavior:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Maternal transmission distortion |
|
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 |
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 |
99670518 |
2 |
SYNM |
T |
C |
exonic |
unknown |
UNKNOWN |
RS1670227 |
Irritible bowel
syndrome:Differential exon level expression of TTC23 [probe 3641399] in brain
cortex:Gene expression of DMN in CD4+ lymphocytes:Late onset Alzheimer's
disease:Gene expression of SYNM///TTC23 in blood:Gene expression of LRRC28 in
blood:Gene expression of SYNM [probeset 212730_at] in sputum |
|
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 |
99678257 |
2 |
TTC23 |
G |
A |
exonic |
synonymous SNV |
TTC23:NM_001288616:exon12:c.C1302T:p.D434D,TTC23:NM_001288615:exon14:c.C1302T:p.D434D |
|
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 |
101717680 |
2 |
CHSY1 |
G |
T |
exonic |
synonymous SNV |
CHSY1:NM_014918:exon3:c.C2322A:p.T774T |
RS8024370 |
Body mass index (BMI):Mitral annular
calcium |
|
15 |
102192548 |
2 |
TM2D3 |
A |
C |
exonic |
nonsynonymous SNV |
TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R,TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R |
|
15 |
129147079 |
2 |
|
16 |
103517 |
2 |
POLR3K |
A |
C |
exonic |
nonsynonymous SNV |
POLR3K:NM_016310:exon1:c.T70G:p.S24A |
|
16 |
449659 |
1 |
NME4 |
G |
A |
exonic |
synonymous SNV |
NME4:NM_001286433:exon3:c.G258A:p.S86S,NME4:NM_001286435:exon4:c.G360A:p.S120S,NME4:NM_001286436:exon4:c.G150A:p.S50S,NME4:NM_001286440:exon4:c.G150A:p.S50S,NME4:NM_005009:exon4:c.G360A:p.S120S,NME4:NM_001286438:exon5:c.G150A:p.S50S,NME4:NM_001286439:exon5:c.G150A:p.S50S |
|
16 |
450309 |
1 |
NME4 |
C |
T |
exonic |
synonymous SNV |
NME4:NM_001286433:exon4:c.C429T:p.D143D,NME4:NM_001286436:exon5:c.C321T:p.D107D,NME4:NM_001286440:exon5:c.C321T:p.D107D,NME4:NM_005009:exon5:c.C531T:p.D177D,NME4:NM_001286438:exon6:c.C321T:p.D107D,NME4:NM_001286439:exon6:c.C321T:p.D107D |
RS5841 |
Gene expression of NME4 in
liver:Gene expression of DECR2 in normal prepouch ileum:Gene expression of
DECR2 (probeID ILMN_1783337) in temporal cortex in Alzheimer's disease
cases:Salmonella-induced pyroptosis:Refractive error:Gene expression change
of NME4 (ENSG00000103202) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of DECR2 (probeID ILMN_1783337) in
temporal cortex in Alzheimer's disease cases and controls |
|
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 |
603471 |
1 |
CAPN15 |
A |
G |
exonic |
synonymous SNV |
CAPN15:NM_005632:exon14:c.A3216G:p.P1072P |
|
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 |
711712 |
2 |
WDR90 |
C |
T |
exonic |
synonymous SNV |
WDR90:NM_145294:exon31:c.C3789T:p.G1263G |
|
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 |
717544 |
1 |
WDR90 |
G |
C |
exonic |
synonymous SNV |
WDR90:NM_145294:exon41:c.G5202C:p.T1734T |
RS3752492 |
2 hour glucose |
|
16 |
718514 |
1 |
RHOT2 |
C |
G |
exonic |
synonymous SNV |
RHOT2:NM_138769:exon3:c.C123G:p.T41T |
|
16 |
722548 |
2 |
RHOT2 |
A |
G |
exonic |
synonymous SNV |
RHOT2:NM_138769:exon16:c.A1386G:p.G462G |
|
16 |
778158 |
1 |
HAGHL |
C |
G |
exonic |
synonymous SNV |
HAGHL:NM_032304:exon3:c.C213G:p.P71P,HAGHL:NM_001290137:exon4:c.C213G:p.P71P,HAGHL:NM_001290139:exon4:c.C213G:p.P71P,HAGHL:NM_001323635:exon4:c.C213G:p.P71P,HAGHL:NM_001323636:exon4:c.C213G:p.P71P |
|
16 |
839262 |
2 |
CHTF18 |
A |
G |
exonic |
synonymous SNV |
CHTF18:NM_022092:exon3:c.A339G:p.R113R |
|
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 |
1836796 |
1 |
NUBP2 |
C |
A |
exonic |
synonymous SNV |
NUBP2:NM_012225:exon3:c.C174A:p.I58I |
RS2235648 |
Triglycerides:LDL
cholesterol:Chronic kidney disease:Methylation levels at
chr16:1784963-1785013 [hg18 coord, probe cg05982504] in Frontal
cortex:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe
cg19030554] in Caudal pons:Methylation levels at chr16:1762290-1762340 [hg18
coord, probe cg19030554] in Temporal cortex:Methylation levels at
chr16:1784963-1785013 [hg18 coord, probe cg05982504] in
Cerebellum:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe
cg19030554] in Frontal cortex:Total cholesterol:Waist hip ratio:Gene
expression of SPSB3 in liver:Bipolar disorder:Gene expression of HAGH in
normal prepouch ileum |
|
16 |
1838836 |
1 |
NUBP2 |
C |
G |
exonic |
nonsynonymous SNV |
NUBP2:NM_001284502:exon6:c.C491G:p.P164R |
RS1065656 |
LDL cholesterol:Triglycerides
change with statins:Chronic kidney disease:Methylation levels at
chr16:1762290-1762340 [hg18 coord, probe cg19030554] in Frontal
cortex:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe
cg19030554] in Temporal cortex:Total cholesterol:Circulating IGFBP-3
concentrations:Gene expression of NUBP2 (probeID ILMN_1657237) in temporal
cortex in Alzheimer's disease cases and controls:Anti-TNF treatment response
in rheumatoid arthritis (by DAS-28 score change at 3 months):Advanced
age-related macular degeneration (geographic atrophy) |
|
16 |
2049003 |
1 |
ZNF598 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF598:NM_178167:exon12:c.T2173A:p.C725S |
|
16 |
2059674 |
2 |
ZNF598 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF598:NM_178167:exon2:c.A74G:p.E25G |
|
16 |
2149876 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon29:c.C9909T:p.G3303G,PKD1:NM_001009944:exon29:c.C9909T:p.G3303G |
|
16 |
2149965 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon29:c.C9820T:p.R3274C,PKD1:NM_001009944:exon29:c.C9820T:p.R3274C |
|
16 |
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 |
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 |
2153823 |
1 |
PKD1 |
A |
C |
exonic |
synonymous SNV |
PKD1:NM_000296:exon23:c.T8235G:p.S2745S,PKD1:NM_001009944:exon23:c.T8235G:p.S2745S |
|
16 |
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 |
2158304 |
1 |
PKD1 |
G |
A |
exonic |
synonymous SNV |
PKD1:NM_000296:exon15:c.C6864T:p.D2288D,PKD1:NM_001009944:exon15:c.C6864T:p.D2288D |
|
16 |
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 |
2164808 |
2 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon11:c.G2216A:p.R739Q,PKD1:NM_001009944:exon11:c.G2216A:p.R739Q |
|
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 |
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 |
2168730 |
1 |
PKD1 |
C |
T |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon4:c.G476A:p.G159D,PKD1:NM_001009944:exon4:c.G476A:p.G159D |
|
16 |
2185569 |
1 |
PKD1 |
G |
A |
exonic |
nonsynonymous SNV |
PKD1:NM_000296:exon1:c.C122T:p.P41L,PKD1:NM_001009944:exon1:c.C122T:p.P41L |
|
16 |
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 |
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 |
3639139 |
2 |
SLX4 |
A |
G |
exonic |
synonymous SNV |
SLX4:NM_032444:exon12:c.T4500C:p.N1500N |
RS3810812 |
HDL cholesterol change with
statins:HDL cholesterol:Body mass index (BMI):Gene expression of TRAP1 in
blood:Gene expression of CLUAP1 in blood:Gene expression of BTBD12
(ENSG00000188827) in dendritic cells treated with Mycobacterium
tuberculosis:Mitral annular calcium:College completion:Years of education |
|
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 |
4476089 |
2 |
DNAJA3 |
T |
C |
exonic |
nonsynonymous SNV |
DNAJA3:NM_001286516:exon1:c.T97C:p.Y33H |
RS1139652 |
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:Methylation levels at chr16:4465987-4466037 [hg18
coord, probe cg14951292] in Cerebellum:Methylation levels at
chr16:4405732-4405782 [hg18 coord, probe cg19168338] in Frontal
cortex:Methylation levels at chr16:4405732-4405782 [hg18 coord, probe
cg19168338] in Caudal pons:HDL cholesterol:Waist hip ratio:Gene expression
change of CORO7 (ENSG00000103426) in dendritic cells after treatment with
Mycobacterium tuberculosis |
|
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 |
4751045 |
1 |
ANKS3 |
C |
T |
exonic |
nonsynonymous SNV |
ANKS3:NM_001324129:exon7:c.G691A:p.A231T,ANKS3:NM_001242929:exon8:c.G889A:p.A297T,ANKS3:NM_001308089:exon10:c.G823A:p.A275T,ANKS3:NM_001324130:exon10:c.G340A:p.A114T,ANKS3:NM_133450:exon11:c.G1210A:p.A404T |
RS863980 |
Fasting insulin:Gene expression of
MGRN1 in normal prepouch ileum |
|
16 |
4752134 |
1 |
ANKS3 |
A |
G |
exonic |
synonymous SNV |
ANKS3:NM_001324129:exon5:c.T459C:p.D153D,ANKS3:NM_001242929:exon6:c.T657C:p.D219D,ANKS3:NM_001308089:exon8:c.T591C:p.D197D,ANKS3:NM_001324130:exon8:c.T108C:p.D36D,ANKS3:NM_133450:exon9:c.T978C:p.D326D |
|
16 |
4802386 |
1 |
ZNF500 |
G |
T |
exonic |
synonymous SNV |
ZNF500:NM_021646:exon6:c.C1434A:p.A478A |
RS3747602 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Refractive error:Infant head
circumference |
|
16 |
4815608 |
2 |
ZNF500 |
A |
G |
exonic |
synonymous SNV |
ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L |
|
16 |
4855279 |
1 |
GLYR1 |
A |
G |
exonic |
synonymous SNV |
GLYR1:NM_001324096:exon15:c.T1425C:p.S475S,GLYR1:NM_001324097:exon15:c.T1443C:p.S481S,GLYR1:NM_001324098:exon15:c.T1635C:p.S545S,GLYR1:NM_001308096:exon16:c.T1602C:p.S534S,GLYR1:NM_032569:exon16:c.T1620C:p.S540S |
RS8064024 |
Differential splicing of N-PAC
[probeset 3678399] in lymphoblastoid cell lines:Triglycerides:2 hour
glucose:Lp-PLA2 activity:Gene expression of ROGDI in peripheral blood
monocytes:Gene expression of ZNF500 in peripheral blood
monocytes:Triglycerides:HDL cholesterol:LDL cholesterol:Total
cholesterol:Height:Body mass index (BMI):Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):PROP taste detection threshold:Refractive
error |
|
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 |
4930100 |
1 |
UBN1 |
C |
T |
exonic |
synonymous SNV |
UBN1:NM_001288656:exon17:c.C3282T:p.H1094H,UBN1:NM_001079514:exon18:c.C3372T:p.H1124H |
RS1876359 |
Differential splicing of N-PAC
[probeset 3678399] in lymphoblastoid cell lines:Differential exon level
expression of ROGDI [probe 3678371] in peripheral blood mononuclear
cells:Differential exon level expression of ROGDI [probe 3678371] in brain
cortex:2 hour glucose:HDL cholesterol:LDL
cholesterol:Triglycerides:Height:Body mass index (BMI):Systolic blood
pressure (SBP):Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob
disease:Obsessive-compulsive disorder (OCD) |
|
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 |
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 |
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 |
11056378 |
1 |
CLEC16A |
C |
T |
exonic |
synonymous SNV |
CLEC16A:NM_001243403:exon3:c.C276T:p.Y92Y,CLEC16A:NM_015226:exon3:c.C276T:p.Y92Y |
RS16957839 |
Multiple sclerosis severity scale
(continuous):Multiple sclerosis severity scale (median) |
|
16 |
11773662 |
1 |
TXNDC11 |
C |
G |
exonic |
nonsynonymous SNV |
TXNDC11:NM_001324025:exon10:c.G910C:p.V304L,TXNDC11:NM_001324022:exon11:c.G1624C:p.V542L,TXNDC11:NM_001324024:exon11:c.G910C:p.V304L,TXNDC11:NM_015914:exon12:c.G2266C:p.V756L,TXNDC11:NM_001303447:exon13:c.G2347C:p.V783L |
RS3190321 |
Rheumatoid arthritis:Triglycerides |
|
16 |
15042821 |
1 |
NPIPA1 |
G |
A |
exonic |
nonsynonymous SNV |
NPIPA1:NM_006985:exon5:c.G472A:p.G158R |
|
16 |
15042827 |
1 |
NPIPA1 |
A |
G |
exonic |
nonsynonymous SNV |
NPIPA1:NM_006985:exon5:c.A478G:p.K160E |
|
16 |
16139714 |
2 |
ABCC1 |
T |
C |
exonic |
synonymous SNV |
ABCC1:NM_004996:exon9:c.T1062C:p.N354N |
RS35587 |
Cognitive response of healthy
volunteers to topiramate treatment as measure by the Symbol Search cognitive
test:Adiponectin levels |
|
16 |
18823379 |
2 |
SMG1 |
T |
C |
exonic |
synonymous SNV |
SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q |
|
16 |
19085298 |
1 |
COQ7 |
C |
T |
exonic |
nonsynonymous SNV |
COQ7:NM_001190983:exon3:c.C194T:p.T65M,COQ7:NM_016138:exon3:c.C308T:p.T103M |
RS11074359 |
Irritible bowel
syndrome:Differential exon level expression of COQ7 [probe 3650810] in
peripheral blood mononuclear cells:Endometriosis |
|
16 |
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 |
22269867 |
2 |
EEF2K |
A |
G |
exonic |
nonsynonymous SNV |
EEF2K:NM_013302:exon10:c.A1082G:p.Q361R |
|
16 |
23536684 |
2 |
EARS2 |
T |
C |
exonic |
nonsynonymous SNV |
EARS2:NM_001083614:exon8:c.A1369G:p.S457G,EARS2:NM_001308211:exon8:c.A1369G:p.S457G |
RS6497671 |
Gene expression of COG7 [probe
213190_at] in lymphoblastoid cell lines:Differential exon level expression of
GGA2 [probe 3685210] in brain cortex:Differential exon level expression of
GGA2 [probe 3685210] in peripheral blood mononuclear cells:Gene expression of
UBPH in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of GGA2
in blood:Gene expression of COG7 in blood:Gene expression of DCTN5 in
blood:Gene expression of DCTN5 in normal prepouch ileum |
|
16 |
24834233 |
1 |
TNRC6A |
C |
T |
exonic |
synonymous SNV |
TNRC6A:NM_001330520:exon23:c.C5265T:p.H1755H,TNRC6A:NM_014494:exon24:c.C5412T:p.H1804H |
RS2303085 |
Rheumatoid arthritis:LDL
cholesterol change with statins:Height:Systolic blood pressure (SBP):Age at
death with kuru exposure:College completion:Tetrology of fallot |
|
16 |
27238110 |
1 |
NSMCE1 |
C |
T |
exonic |
synonymous SNV |
NSMCE1:NM_145080:exon6:c.G531A:p.E177E |
|
16 |
27356203 |
1 |
IL4R |
A |
G |
exonic |
nonsynonymous SNV |
IL4R:NM_001257406:exon4:c.A223G:p.I75V,IL4R:NM_000418:exon5:c.A223G:p.I75V,IL4R:NM_001257407:exon5:c.A178G:p.I60V |
RS1805010 |
Cystatin C in serum |
|
16 |
27772901 |
2 |
KIAA0556 |
G |
A |
exonic |
nonsynonymous SNV |
KIAA0556:NM_015202:exon19:c.G3799A:p.A1267T |
|
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 |
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 |
30408765 |
2 |
ZNF48 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF48:NM_152652:exon2:c.C194T:p.A65V,ZNF48:NM_001214906:exon3:c.C194T:p.A65V,ZNF48:NM_001214909:exon3:c.C194T:p.A65V |
RS12921440 |
Gene expression of BOLA2 [probe
210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC440354 [probe
210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC595101 [probe
210396_s_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:LDL
cholesterol change with statins:LDL cholesterol:Total cholesterol:Gene
expression of ZNF688///CD2BP2 in blood:Gene expression of
ZNF688///GDPD3///MAPK3 in blood:Gene expression of LOC440354 (probeID
ILMN_1782377) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of SEPT1 (probeID ILMN_2415162) in temporal cortex in Alzheimer's
disease cases and controls:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in Alzheimer's disease cases:Parkinson's disease:Gene
expression of LOC440354 (probeID ILMN_1782377) in temporal cortex in
Alzheimer's disease cases and controls:Gene expression of LOC440354 (probeID
ILMN_1782377) in temporal cortex in non-Alzheimer's disease samples:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Gene expression of LOC595101 (probeID ILMN_2200562) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of SEPT1 (probeID ILMN_2415162) in temporal cortex
in Alzheimer's disease cases:Gene expression of LOC595101 (probeID
ILMN_2200562) in temporal cortex in non-Alzheimer's disease samples:Gene
expression of LOC440354 (probeID ILMN_1782377) in cerebellum in
non-Alzheimer's disease samples:Gene expression of SEPT1 (probeID
ILMN_2415162) in temporal cortex in non-Alzheimer's disease
samples:Refractive error:Advanced age-related macular degeneration:Gene
expression of SEPT1 (probeID ILMN_2415162) in cerebellum in Alzheimer's
disease cases and controls |
|
16 |
30724070 |
2 |
SRCAP |
G |
T |
exonic |
synonymous SNV |
SRCAP:NM_006662:exon14:c.G2064T:p.R688R |
|
16 |
30734963 |
2 |
SRCAP |
C |
A |
exonic |
synonymous SNV |
SRCAP:NM_006662:exon25:c.C4218A:p.S1406S |
|
16 |
30779716 |
2 |
RNF40 |
A |
G |
exonic |
nonsynonymous SNV |
RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_001286572:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R |
|
16 |
30780828 |
2 |
RNF40 |
A |
G |
exonic |
synonymous SNV |
RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_001286572:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L |
|
16 |
30964940 |
2 |
ORAI3 |
A |
G |
exonic |
synonymous SNV |
ORAI3:NM_152288:exon2:c.A663G:p.Q221Q |
|
16 |
31075708 |
2 |
ZNF668 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L |
|
16 |
31141826 |
2 |
KAT8 |
A |
G |
exonic |
synonymous SNV |
KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P |
|
16 |
31141880 |
2 |
KAT8 |
A |
G |
exonic |
synonymous SNV |
KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L |
|
16 |
31153105 |
2 |
PRSS36 |
A |
G |
exonic |
synonymous SNV |
PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D |
|
16 |
31195279 |
1 |
FUS |
C |
T |
exonic |
synonymous SNV |
FUS:NM_001170634:exon4:c.C288T:p.Y96Y,FUS:NM_001170937:exon4:c.C291T:p.Y97Y,FUS:NM_004960:exon4:c.C291T:p.Y97Y |
RS1052352 |
LDL
cholesterol:Triglycerides:Triglycerides:Dose change in phenprocoumon
(warfarin) in mg/week per allele:PROP taste detection threshold:Parkinson's
disease:Gene expression of VKORC1 in normal prepouch ileum:Gene expression of
MYST1 (probeID ILMN_1804679) in cerebellum in Alzheimer's disease cases and
controls |
|
16 |
31926619 |
2 |
ZNF267 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y |
RS3850114 |
Obesity with early age of onset (age
>2) |
|
16 |
46655210 |
2 |
SHCBP1 |
A |
G |
exonic |
nonsynonymous SNV |
SHCBP1:NM_001324318:exon1:c.T62C:p.M21T,SHCBP1:NM_001324319:exon1:c.T62C:p.M21T,SHCBP1:NM_024745:exon1:c.T62C:p.M21T |
|
16 |
46696284 |
2 |
VPS35 |
G |
A |
exonic |
synonymous SNV |
VPS35:NM_018206:exon15:c.C1938T:p.H646H |
|
16 |
50326661 |
2 |
ADCY7 |
A |
G |
exonic |
synonymous SNV |
ADCY7:NM_001114:exon4:c.A612G:p.A204A,ADCY7:NM_001286057:exon5:c.A612G:p.A204A |
|
16 |
51171175 |
2 |
SALL1 |
C |
T |
exonic |
nonsynonymous SNV |
SALL1:NM_001127892:exon3:c.G3532A:p.V1178I,SALL1:NM_002968:exon3:c.G3823A:p.V1275I |
|
16 |
51173559 |
2 |
SALL1 |
G |
A |
exonic |
synonymous SNV |
SALL1:NM_001127892:exon2:c.C2283T:p.L761L,SALL1:NM_002968:exon2:c.C2574T:p.L858L |
RS1965024 |
Systolic blood pressure
(SBP):Salmonella-induced pyroptosis |
|
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 |
57562804 |
2 |
CCDC102A |
G |
A |
exonic |
nonsynonymous SNV |
CCDC102A:NM_033212:exon2:c.C286T:p.R96W |
|
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 |
58549932 |
1 |
SETD6 |
T |
C |
exonic |
synonymous SNV |
SETD6:NM_001160305:exon2:c.T265C:p.L89L,SETD6:NM_024860:exon3:c.T193C:p.L65L |
RS4784046 |
HDL cholesterol:Birth weight |
|
16 |
58552921 |
1 |
SETD6 |
G |
A |
exonic |
synonymous SNV |
SETD6:NM_001160305:exon8:c.G1410A:p.E470E,SETD6:NM_024860:exon9:c.G1338A:p.E446E |
|
16 |
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 |
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 |
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 |
74537591 |
1 |
GLG1 |
C |
T |
exonic |
synonymous SNV |
GLG1:NM_001145666:exon3:c.G579A:p.L193L,GLG1:NM_001145667:exon4:c.G612A:p.L204L,GLG1:NM_012201:exon4:c.G612A:p.L204L |
RS4887772 |
LDL cholesterol:2 hour
glucose:Fasting blood glucose:Fasting insulin:Chronic kidney disease:Total
cholesterol:Infant head circumference |
|
16 |
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 |
75646685 |
1 |
ADAT1 |
G |
T |
exonic |
nonsynonymous SNV |
ADAT1:NM_001324452:exon5:c.C238A:p.H80N,ADAT1:NM_001324453:exon5:c.C238A:p.H80N,ADAT1:NM_001324445:exon6:c.C499A:p.H167N,ADAT1:NM_001324449:exon6:c.C499A:p.H167N,ADAT1:NM_001324451:exon6:c.C52A:p.H18N,ADAT1:NM_001324444:exon7:c.C52A:p.H18N,ADAT1:NM_001324446:exon7:c.C52A:p.H18N,ADAT1:NM_001324448:exon7:c.C499A:p.H167N,ADAT1:NM_001324450:exon7:c.C52A:p.H18N,ADAT1:NM_012091:exon7:c.C499A:p.H167N |
RS3743598 |
Rheumatoid arthritis:Differential
exon level expression of KARS [probe 3699828] in peripheral blood mononuclear
cells:HOMA-B:Fasting insulin:HOMA-IR:Serum creatinine:Cystatin C in
serum:Gene expression of ADAT1 in blood:Adiponectin levels:Transmission distortion |
|
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 |
80718879 |
1 |
CDYL2 |
A |
G |
exonic |
synonymous SNV |
CDYL2:NM_152342:exon2:c.T172C:p.L58L |
RS8049284 |
Salmonella-induced pyroptosis |
|
16 |
81941319 |
2 |
PLCG2 |
C |
T |
exonic |
synonymous SNV |
PLCG2:NM_002661:exon16:c.C1497T:p.A499A |
RS1143689 |
Age at death with kuru exposure |
|
16 |
84212571 |
1 |
TAF1C |
C |
A |
exonic |
synonymous SNV |
TAF1C:NM_001243158:exon11:c.G1590T:p.R530R,TAF1C:NM_001243157:exon12:c.G1590T:p.R530R,TAF1C:NM_001243160:exon12:c.G1155T:p.R385R,TAF1C:NM_001243159:exon14:c.G1359T:p.R453R,TAF1C:NM_005679:exon14:c.G2586T:p.R862R,TAF1C:NM_001243156:exon15:c.G2508T:p.R836R,TAF1C:NM_139353:exon15:c.G2304T:p.R768R |
RS1804500 |
Fasting blood glucose:HOMA-IR:Gene
expression of LOC161931 in Frontal cortex:Diastolic blood pressure (DBP):Gene
expression of TAF1C (probeID ILMN_2335072) in temporal cortex in Alzheimer's
disease cases and controls:Years of education:Obesity with early age of onset
(age >2):Gene expression of TAF1C (probeID ILMN_2335072) in cerebellum in
Alzheimer's disease cases and controls |
|
16 |
84213114 |
1 |
TAF1C |
C |
T |
exonic |
synonymous SNV |
TAF1C:NM_001243158:exon11:c.G1047A:p.V349V,TAF1C:NM_001243157:exon12:c.G1047A:p.V349V,TAF1C:NM_001243160:exon12:c.G612A:p.V204V,TAF1C:NM_001243159:exon14:c.G816A:p.V272V,TAF1C:NM_005679:exon14:c.G2043A:p.V681V,TAF1C:NM_001243156:exon15:c.G1965A:p.V655V,TAF1C:NM_139353:exon15:c.G1761A:p.V587V |
|
16 |
84213434 |
1 |
TAF1C |
A |
T |
exonic |
nonsynonymous SNV |
TAF1C:NM_001243158:exon11:c.T727A:p.L243M,TAF1C:NM_001243157:exon12:c.T727A:p.L243M,TAF1C:NM_001243160:exon12:c.T292A:p.L98M,TAF1C:NM_001243159:exon14:c.T496A:p.L166M,TAF1C:NM_005679:exon14:c.T1723A:p.L575M,TAF1C:NM_001243156:exon15:c.T1645A:p.L549M,TAF1C:NM_139353:exon15:c.T1441A:p.L481M |
RS2230129 |
Microalbuminuria:Years of
education:Gene expression of TAF1C (probeID ILMN_2335072) in cerebellum in
Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression
of TAF1C (probeID ILMN_2335072) in temporal cortex in Alzheimer's disease cases
and controls |
|
16 |
84215390 |
1 |
TAF1C |
T |
C |
exonic |
synonymous SNV |
TAF1C:NM_005679:exon8:c.A996G:p.A332A,TAF1C:NM_001243156:exon9:c.A918G:p.A306A,TAF1C:NM_139353:exon9:c.A717G:p.A239A |
RS2230127 |
Fasting blood glucose:Gene
expression of TAF1C (probeID ILMN_2335072) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of TAF1C (probeID ILMN_2335072) in
temporal cortex in Alzheimer's disease cases and controls |
|
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 |
84218565 |
1 |
TAF1C |
T |
C |
exonic |
synonymous SNV |
TAF1C:NM_001243156:exon2:c.A30G:p.A10A,TAF1C:NM_005679:exon2:c.A30G:p.A10A |
|
16 |
84520396 |
2 |
TLDC1 |
A |
G |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon5:c.T799C:p.C267R |
|
16 |
84520537 |
2 |
TLDC1 |
T |
C |
exonic |
nonsynonymous SNV |
TLDC1:NM_020947:exon5:c.A658G:p.I220V |
|
16 |
84691044 |
1 |
KLHL36 |
C |
T |
exonic |
synonymous SNV |
KLHL36:NM_001303451:exon3:c.C631T:p.L211L,KLHL36:NM_024731:exon3:c.C631T:p.L211L |
RS3751762 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression of KLHL36 (probeID ILMN_1703314) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
KLHL36 (probeID ILMN_1703314) in cerebellum in Alzheimer's disease cases and
controls |
|
16 |
84778685 |
1 |
USP10 |
A |
G |
exonic |
nonsynonymous SNV |
USP10:NM_005153:exon4:c.A598G:p.M200V,USP10:NM_001272075:exon5:c.A610G:p.M204V |
|
16 |
85009970 |
1 |
ZDHHC7 |
A |
G |
exonic |
synonymous SNV |
ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G |
RS7195377 |
HDL cholesterol |
|
16 |
85711860 |
1 |
GINS2 |
C |
T |
exonic |
synonymous SNV |
GINS2:NM_016095:exon5:c.G516A:p.T172T |
RS1053328 |
HOMA-IR:Fasting insulin:Childhood
acute lymphoblastic leukemia:Serum creatinine:Gene expression of COX4NB in
peripheral blood monocytes:Triglycerides:HDL cholesterol:Total
cholesterol:Urinary albumin-to-creatinine ratio:Systolic blood pressure
(SBP):Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:College
completion |
|
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 |
88017809 |
1 |
BANP |
C |
T |
exonic |
synonymous SNV |
BANP:NM_001173539:exon4:c.C306T:p.V102V,BANP:NM_001173540:exon4:c.C324T:p.V108V,BANP:NM_001173541:exon4:c.C306T:p.V102V,BANP:NM_001173542:exon4:c.C306T:p.V102V,BANP:NM_001173543:exon4:c.C282T:p.V94V,BANP:NM_017869:exon4:c.C306T:p.V102V,BANP:NM_079837:exon4:c.C306T:p.V102V |
|
16 |
88552370 |
2 |
ZFPM1 |
A |
G |
exonic |
nonsynonymous SNV |
ZFPM1:NM_153813:exon2:c.A64G:p.R22G |
RS3751673 |
LDL cholesterol:LDL
cholesterol:Total cholesterol:Total cholesterol:HDL cholesterol:Tetrology of
fallot |
|
16 |
88767769 |
1 |
RNF166 |
G |
C |
exonic |
synonymous SNV |
RNF166:NM_178841:exon2:c.C213G:p.L71L |
RS2306049 |
LDL cholesterol change with statins |
|
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 |
88783521 |
2 |
PIEZO1 |
T |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P |
|
16 |
88787704 |
2 |
PIEZO1 |
G |
C |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A |
|
16 |
88792047 |
2 |
PIEZO1 |
A |
G |
exonic |
synonymous SNV |
PIEZO1:NM_001142864:exon28:c.T4014C:p.F1338F |
RS4782430 |
Serum creatinine:Bipolar disorder
versus schizophrenia:Gene expression of FAM38A in peripheral blood
monocytes:Gene expression of SNAI3 in peripheral blood monocytes |
|
16 |
88804734 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon7:c.T749C:p.V250A |
RS7184427 |
LDL cholesterol:HOMA-B:Fasting
insulin:HOMA-IR:Triglycerides change with statins:Height |
|
16 |
88808743 |
2 |
PIEZO1 |
A |
G |
exonic |
nonsynonymous SNV |
PIEZO1:NM_001142864:exon3:c.T248C:p.I83T |
RS6500495 |
Gene expression of SNAI3 in
peripheral blood monocytes |
|
16 |
88872145 |
2 |
CDT1 |
T |
C |
exonic |
nonsynonymous SNV |
CDT1:NM_030928:exon5:c.T700C:p.C234R |
|
16 |
88884466 |
1 |
GALNS |
C |
T |
exonic |
synonymous SNV |
GALNS:NM_001323543:exon12:c.G876A:p.E292E,GALNS:NM_000512:exon13:c.G1431A:p.E477E,GALNS:NM_001323544:exon14:c.G1449A:p.E483E |
|
16 |
88902183 |
1 |
GALNS |
G |
A |
exonic |
synonymous SNV |
GALNS:NM_001323543:exon6:c.C153T:p.H51H,GALNS:NM_000512:exon7:c.C708T:p.H236H,GALNS:NM_001323544:exon8:c.C726T:p.H242H |
RS1064315 |
HDL cholesterol |
|
16 |
89167140 |
1 |
ACSF3 |
G |
C |
exonic |
synonymous SNV |
ACSF3:NM_001127214:exon2:c.G51C:p.A17A,ACSF3:NM_001243279:exon3:c.G51C:p.A17A,ACSF3:NM_174917:exon3:c.G51C:p.A17A |
|
16 |
89293271 |
1 |
ZNF778 |
A |
C |
exonic |
nonsynonymous SNV |
ZNF778:NM_182531:exon6:c.A491C:p.K164T,ZNF778:NM_001201407:exon7:c.A575C:p.K192T |
|
16 |
89294381 |
1 |
ZNF778 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF778:NM_182531:exon6:c.T1601C:p.I534T,ZNF778:NM_001201407:exon7:c.T1685C:p.I562T |
|
16 |
89294439 |
1 |
ZNF778 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF778:NM_182531:exon6:c.G1659T:p.Q553H,ZNF778:NM_001201407:exon7:c.G1743T:p.Q581H |
RS9921361 |
Hair color (red):Hair color
(red):Differential exon level expression of ZNF778 [probe 3673937] in brain
cortex:Partial epilepsy:Neuroblastoma (brain cancer):Suicide attempts in
bipolar disorder (males) |
|
16 |
89294697 |
1 |
ZNF778 |
C |
T |
exonic |
synonymous SNV |
ZNF778:NM_182531:exon6:c.C1917T:p.H639H,ZNF778:NM_001201407:exon7:c.C2001T:p.H667H |
|
16 |
89782989 |
2 |
VPS9D1 |
A |
G |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon4:c.T312C:p.I104I |
RS7206570 |
Urinary albumin-to-creatinine
ratio:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol
dependence |
|
16 |
89783187 |
2 |
VPS9D1 |
C |
T |
exonic |
synonymous SNV |
VPS9D1:NM_004913:exon3:c.G219A:p.K73K |
|
16 |
89789898 |
1 |
ZNF276 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF276:NM_001113525:exon4:c.T787C:p.W263R,ZNF276:NM_152287:exon4:c.T562C:p.W188R |
RS6500437 |
Gene expression of FANCA in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of FANCA [probe
203805_s_at] in lymphoblastoid cell lines:Hip bone mineral density
(BMD):Spine bone mineral density (BMD):Eye color:Hair color
(red):Differential exon level expression of ZNF276 [probe 3674360] in
peripheral blood mononuclear cells:Fasting blood glucose:Hair color
(red):Triglycerides:Height:Gene expression of C16orf7 in blood:Gene
expression of CDK10///C16orf76 in blood:Gene expression of SPIRE2 in blood:Bipolar
disorder:Age at death with kuru exposure:Gene expression of CDK10
(ENSG00000185324) in dendritic cells treated with Mycobacterium
tuberculosis:Years of education:Parkinson's disease:Aortic valve calcium |
|
16 |
89836323 |
1 |
FANCA |
C |
T |
exonic |
nonsynonymous SNV |
FANCA:NM_000135:exon26:c.G2426A:p.G809D,FANCA:NM_001286167:exon26:c.G2426A:p.G809D |
RS7195066 |
Gene expression of FANCA [probe
236976_at] in lymphoblastoid cell lines:Hair color (red):Spine bone mineral
density (BMD):Eye color:Hair color (black versus red):Hair color
(red):Tanning ability:Hair color:Freckles+burns vs. no freckles+tans:Burns
vs. tans:Hair color (red):Skin freckles:Hair color (red):Triglycerides:Gene
expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with PGE2:Gene
expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with
dexamethasone:Gene expression of TUBB3 in blood:Gene expression of
CDK10///C16orf76 in blood:Gene expression of DBNDD1 in blood:Gene expression
of SPIRE2 in blood |
|
16 |
89849480 |
1 |
FANCA |
C |
T |
exonic |
nonsynonymous SNV |
FANCA:NM_000135:exon16:c.G1501A:p.G501S,FANCA:NM_001286167:exon16:c.G1501A:p.G501S |
RS2239359 |
Freckles+burns vs. no
freckles+tans:Skin freckles:Alzheimer's disease:Fasting blood
glucose:Methylation levels at chr16:88511968-88512018 [hg18 coord, probe
cg14696348] in Temporal cortex:Methylation levels at chr16:88511968-88512018
[hg18 coord, probe cg14696348] in Cerebellum:Height:Gene expression of MC1R
[transcript NM_002386, probe A_23_P329271] in liver:Gene expression of TCF25
in blood:Gene expression of SPG7 in blood:Gene expression of C16orf7 in
blood:Gene expression of CDK10///C16orf76 in blood:Gene expression of TUBB3
in blood:Gene expression of RPL13 in blood:Gene expression of ENST00000360417
in blood:Gene expression of AC092143.9 in blood:Gene expression of DRD3 in
blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced
age-related macular degeneration:Tetrology of fallot:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
16 |
90097748 |
1 |
GAS8 |
C |
T |
exonic |
synonymous SNV |
GAS8:NM_001286209:exon3:c.C57T:p.R19R,GAS8:NM_001481:exon3:c.C132T:p.R44R |
RS2302513 |
Triglycerides:Advanced age-related
macular degeneration (geographic atrophy) |
|
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 |
1359363 |
2 |
CRK |
T |
G |
exonic |
synonymous SNV |
CRK:NM_005206:exon1:c.A49C:p.R17R,CRK:NM_016823:exon1:c.A49C:p.R17R |
|
17 |
1373518 |
2 |
MYO1C |
T |
C |
exonic |
nonsynonymous SNV |
MYO1C:NM_001080779:exon24:c.A2477G:p.Q826R,MYO1C:NM_001080950:exon24:c.A2420G:p.Q807R,MYO1C:NM_033375:exon24:c.A2372G:p.Q791R |
|
17 |
1373612 |
2 |
MYO1C |
C |
T |
exonic |
nonsynonymous SNV |
MYO1C:NM_001080779:exon24:c.G2383A:p.V795I,MYO1C:NM_001080950:exon24:c.G2326A:p.V776I,MYO1C:NM_033375:exon24:c.G2278A:p.V760I |
|
17 |
1377943 |
2 |
MYO1C |
A |
G |
exonic |
synonymous SNV |
MYO1C:NM_001080779:exon17:c.T1758C:p.F586F,MYO1C:NM_001080950:exon17:c.T1701C:p.F567F,MYO1C:NM_033375:exon17:c.T1653C:p.F551F |
RS2286873 |
Triglycerides change with
statins:Total cholesterol:Birth weight |
|
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 |
1630584 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163809:exon1:c.A2331G:p.L777L |
RS7221974 |
Serum
creatinine:Autism:Height:Neuroblastoma (brain cancer):Late onset Alzheimer's
disease:Gene expression of SERPINF2 in blood:Gene expression of C17orf91 in
blood:Advanced age-related macular degeneration:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD |
|
17 |
1637074 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.A1134G:p.P378P,WDR81:NM_001163809:exon7:c.A4743G:p.P1581P,WDR81:NM_001163811:exon7:c.A1062G:p.P354P,WDR81:NM_152348:exon8:c.A1590G:p.P530P |
RS3809871 |
Height:Urinary
albumin-to-creatinine ratio:Microalbuminuria:Advanced age-related macular
degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related
macular degeneration:Adiponectin levels |
|
17 |
1637302 |
2 |
WDR81 |
A |
G |
exonic |
synonymous SNV |
WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L |
RS3809872 |
Gene expression of RPA1
(ENSG00000132383) in dendritic cells treated with Mycobacterium
tuberculosis:Refractive error |
|
17 |
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 |
2203348 |
2 |
SMG6 |
T |
C |
exonic |
synonymous SNV |
SMG6:NM_017575:exon2:c.A699G:p.P233P |
RS216194 |
5-hydroxyindoleacetic acid (HIAA) |
|
17 |
3493200 |
2 |
TRPV1 |
C |
G |
exonic |
nonsynonymous SNV |
TRPV1:NM_080706:exon5:c.G945C:p.M315I,TRPV1:NM_018727:exon6:c.G945C:p.M315I,TRPV1:NM_080705:exon6:c.G945C:p.M315I,TRPV1:NM_080704:exon7:c.G945C:p.M315I |
RS222747 |
HDL cholesterol change with
statins:2 hour glucose:HDL cholesterol change with statins |
|
17 |
3514028 |
2 |
SHPK |
G |
C |
exonic |
nonsynonymous SNV |
SHPK:NM_013276:exon7:c.C1263G:p.D421E |
|
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 |
4693170 |
2 |
GLTPD2 |
T |
C |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.T455C:p.V152A |
|
17 |
4693508 |
2 |
GLTPD2 |
G |
C |
exonic |
nonsynonymous SNV |
GLTPD2:NM_001014985:exon4:c.G793C:p.V265L |
|
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 |
4883818 |
2 |
CAMTA2 |
C |
G |
exonic |
nonsynonymous SNV |
CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P |
RS238234 |
Gene expression of DKFZP566H073 in
JPT lymphoblastoid cell lines:Total cholesterol:Gene expression of RNF167 in
Caudal pons:Gene expression of RNF167 in Cerebellum:Gene expression of RNF167
in Frontal cortex:Gene expression of RNF167 in Temporal cortex:Birth
weight:Gene expression change of PFN1 (ENSG00000108518) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
17 |
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 |
7129840 |
2 |
DVL2 |
T |
C |
exonic |
synonymous SNV |
DVL2:NM_004422:exon14:c.A1662G:p.Q554Q |
|
17 |
7154534 |
2 |
CTDNEP1 |
G |
A |
exonic |
synonymous SNV |
CTDNEP1:NM_001143775:exon1:c.C82T:p.L28L,CTDNEP1:NM_015343:exon2:c.C82T:p.L28L |
|
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 |
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 |
7843053 |
2 |
CNTROB |
C |
T |
exonic |
synonymous SNV |
CNTROB:NM_001037144:exon8:c.C1150T:p.L384L,CNTROB:NM_001330124:exon8:c.C1150T:p.L384L,CNTROB:NM_053051:exon8:c.C1150T:p.L384L |
RS11078719 |
Methylation levels at
chr17:7773204-7773254 [hg18 coord, probe cg03386903] in Cerebellum:Gene
expression change of ALOX15B (ENSG00000179593) in dendritic cells after
treatment with Mycobacterium tuberculosis:Advanced age-related macular
degeneration (geographic atrophy):Advanced age-related macular degeneration |
|
17 |
7849087 |
2 |
CNTROB |
C |
G |
exonic |
synonymous SNV |
CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_001330124:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P |
RS4462665 |
Fasting blood glucose:Methylation
levels at chr17:7773204-7773254 [hg18 coord, probe cg03386903] in
Cerebellum:Body mass index (BMI):Diastolic blood pressure (DBP):Advanced
age-related macular degeneration (geographic atrophy):Advanced age-related
macular degeneration |
|
17 |
8135061 |
2 |
CTC1 |
T |
C |
exonic |
nonsynonymous SNV |
CTC1:NM_025099:exon14:c.A2458G:p.I820V |
RS3027238 |
Schizophrenia:HOMA-B:Comorbid
depressive syndrome and alcohol dependence |
|
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 |
15457087 |
1 |
TVP23C;TVP23C-CDRT4 |
C |
T |
exonic |
nonsynonymous SNV |
TVP23C:NM_001135036:exon3:c.G152A:p.C51Y,TVP23C-CDRT4:NM_001204478:exon3:c.G152A:p.C51Y,TVP23C:NM_145301:exon3:c.G152A:p.C51Y |
|
17 |
16859628 |
2 |
|
17 |
17696531 |
2 |
RAI1 |
G |
C |
exonic |
nonsynonymous SNV |
RAI1:NM_030665:exon3:c.G269C:p.G90A |
|
17 |
18167505 |
2 |
MIEF2 |
T |
C |
exonic |
synonymous SNV |
MIEF2:NM_139162:exon4:c.T792C:p.A264A,MIEF2:NM_148886:exon4:c.T825C:p.A275A |
|
17 |
18220770 |
2 |
SMCR8 |
G |
A |
exonic |
nonsynonymous SNV |
SMCR8:NM_144775:exon1:c.G1667A:p.R556H |
RS1563632 |
Gene expression of SHMT1 [probe
224954_at] in lymphoblastoid cell lines:Gene expression of ATPAF2 in
liver:Gene expression of FAM83G in liver:Gene expression of NM_182568 in
liver:Gene expression of ENST00000300223 in liver:Gene expression of SHMT1 in
liver:Gene expression of C15orf50 in liver:Gene expression of SHMT1 in blood
cells in Celiac disease:Abnormal Involuntary Movement Scale:LDL
cholesterol:HDL cholesterol:Gene expression of SHMT1 in CD4+ lymphocytes:Gene
expression of TOP3A in blood:Gene expression of SMCR8///SHMT1 in blood:Gene
expression of SHMT1 in blood:Gene expression of SHMT1 [probeset 224954_at] in
sputum:Bipolar disorder |
|
17 |
18907029 |
2 |
FAM83G |
A |
G |
exonic |
nonsynonymous SNV |
FAM83G:NM_001039999:exon2:c.T326C:p.I109T |
RS2074283 |
Refractive error:Adiponectin levels |
|
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 |
27889986 |
2 |
ABHD15 |
T |
C |
exonic |
nonsynonymous SNV |
ABHD15:NM_198147:exon2:c.A1000G:p.T334A |
RS542939 |
Fasting blood glucose:Lp-PLA2
mass:Height:Gene expression of CORO6 [transcript NM_032854, probe
A_23_P107322] in liver:Infant head circumference:Birth weight |
|
17 |
30183857 |
2 |
COPRS |
T |
C |
exonic |
nonsynonymous SNV |
COPRS:NM_001330176:exon2:c.A91G:p.S31G,COPRS:NM_018405:exon2:c.A127G:p.S43G |
RS8068049 |
Triglycerides:Total cholesterol
change with statins:Height |
|
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 |
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 |
33689926 |
2 |
SLFN11 |
T |
C |
exonic |
nonsynonymous SNV |
SLFN11:NM_152270:exon2:c.A901G:p.N301D,SLFN11:NM_001104589:exon3:c.A901G:p.N301D,SLFN11:NM_001104587:exon4:c.A901G:p.N301D,SLFN11:NM_001104588:exon4:c.A901G:p.N301D,SLFN11:NM_001104590:exon4:c.A901G:p.N301D |
RS4796077 |
Total cholesterol change with
statins:LDL cholesterol change with statins:Serum
creatinine:Triglycerides:Obesity with early age of onset (age >2) |
|
17 |
34171590 |
2 |
TAF15 |
A |
G |
exonic |
synonymous SNV |
TAF15:NM_003487:exon15:c.A1278G:p.G426G,TAF15:NM_139215:exon15:c.A1287G:p.G429G |
RS4251785 |
LDL cholesterol |
|
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 |
37822311 |
2 |
TCAP |
A |
C |
exonic |
synonymous SNV |
TCAP:NM_003673:exon2:c.A453C:p.A151A |
RS1053651 |
HDL cholesterol:Serum
creatinine:Chronic kidney disease:Rheumatoid arthritis:Gene expression of
PERLD1 in peripheral blood monocytes:Total cholesterol:HDL
cholesterol:Height:Urinary albumin-to-creatinine ratio:Advanced age-related
macular degeneration (geographic atrophy):Advanced age-related macular
degeneration:Gene expression of IKZF3 (probeID ILMN_2300695) in temporal
cortex in Alzheimer's disease cases:Red blood cell count (RBC):College
completion:Gene expression of PGAP3 in normal prepouch ileum:Gene expression
of GSDMB in normal prepouch ileum:Gene expression of IKZF3 (probeID
ILMN_2300695) in temporal cortex in Alzheimer's disease cases and
controls:Years of education:Gene expression of IKZF3 (probeID ILMN_2300695)
in cerebellum in non-Alzheimer's disease samples:Gene expression of IKZF3
(probeID ILMN_2300695) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of IKZF3 (probeID ILMN_2300695) in temporal cortex
in non-Alzheimer's disease samples |
|
17 |
37898543 |
2 |
GRB7 |
T |
C |
exonic |
nonsynonymous SNV |
GRB7:NM_001242442:exon2:c.T58C:p.C20R |
|
17 |
38457151 |
2 |
CDC6 |
G |
A |
exonic |
nonsynonymous SNV |
CDC6:NM_001254:exon10:c.G1321A:p.V441I |
RS13706 |
Neuroticism:HOMA-B:Fasting blood
glucose |
|
17 |
38990834 |
2 |
TMEM99 |
G |
C |
exonic |
synonymous SNV |
TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V |
RS2240078 |
HOMA-B:Microalbuminuria |
|
17 |
39925925 |
2 |
JUP |
A |
G |
exonic |
synonymous SNV |
JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D |
|
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 |
40460040 |
2 |
|
17 |
40689455 |
2 |
NAGLU |
T |
C |
exonic |
synonymous SNV |
NAGLU:NM_000263:exon2:c.T423C:p.S141S |
RS659497 |
Diastolic blood pressure (DBP) |
|
17 |
40822308 |
2 |
PLEKHH3 |
C |
A |
exonic |
nonsynonymous SNV |
PLEKHH3:NM_024927:exon11:c.G1641T:p.Q547H |
|
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 |
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 |
42475983 |
2 |
GPATCH8 |
G |
C |
exonic |
synonymous SNV |
GPATCH8:NM_001304943:exon5:c.C3228G:p.T1076T,GPATCH8:NM_001304939:exon7:c.C3387G:p.T1129T,GPATCH8:NM_001304942:exon7:c.C3228G:p.T1076T,GPATCH8:NM_001002909:exon8:c.C3462G:p.T1154T,GPATCH8:NM_001304941:exon9:c.C3228G:p.T1076T,GPATCH8:NM_001304940:exon10:c.C3228G:p.T1076T |
RS936019 |
Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
17 |
43318778 |
2 |
FMNL1 |
G |
C |
exonic |
synonymous SNV |
FMNL1:NM_005892:exon14:c.G1362C:p.G454G |
|
17 |
43318779 |
2 |
FMNL1 |
C |
G |
exonic |
nonsynonymous SNV |
FMNL1:NM_005892:exon14:c.C1363G:p.P455A |
|
17 |
43545753 |
1 |
PLEKHM1 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon5:c.G1130A:p.R377H |
|
17 |
43555372 |
1 |
PLEKHM1 |
C |
T |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon3:c.G190A:p.A64T |
|
17 |
43555449 |
1 |
PLEKHM1 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHM1:NM_014798:exon3:c.C113T:p.T38M |
|
17 |
44144993 |
2 |
KANSL1 |
C |
G |
exonic |
nonsynonymous SNV |
KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P |
|
17 |
44626660 |
2 |
LRRC37A2 |
C |
G |
exonic |
nonsynonymous SNV |
LRRC37A2:NM_001006607:exon9:c.C4155G:p.N1385K |
|
17 |
45364540 |
2 |
ITGB3 |
T |
C |
exonic |
synonymous SNV |
ITGB3:NM_000212:exon6:c.T882C:p.P294P |
RS5919 |
Triglycerides |
|
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 |
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 |
48452776 |
2 |
EME1 |
A |
C |
exonic |
nonsynonymous SNV |
EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D |
RS3760413 |
HDL cholesterol:2 hour glucose:Gene
expression of ZHX3 in peripheral blood monocytes:Triglycerides:Height |
|
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 |
53851228 |
2 |
PCTP |
C |
T |
exonic |
synonymous SNV |
PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I |
RS2960062 |
Neuroticism:Simpson-Angus
Scale:Fasting blood glucose:HOMA-IR:Serum creatinine:Waist hip
ratio:Microalbuminuria:Obesity with early age of onset (age >2) |
|
17 |
55027850 |
2 |
COIL |
T |
C |
exonic |
synonymous SNV |
COIL:NM_004645:exon2:c.A753G:p.E251E |
|
17 |
55183716 |
2 |
AKAP1 |
T |
C |
exonic |
synonymous SNV |
AKAP1:NM_003488:exon2:c.T891C:p.D297D,AKAP1:NM_001242902:exon3:c.T891C:p.D297D,AKAP1:NM_001242903:exon3:c.T891C:p.D297D |
|
17 |
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 |
58824567 |
2 |
BCAS3 |
T |
C |
exonic |
synonymous SNV |
BCAS3:NM_001099432:exon6:c.T330C:p.G110G,BCAS3:NM_001320470:exon6:c.T330C:p.G110G,BCAS3:NM_001330413:exon6:c.T330C:p.G110G,BCAS3:NM_001330414:exon6:c.T330C:p.G110G,BCAS3:NM_017679:exon6:c.T330C:p.G110G |
|
17 |
59760996 |
2 |
BRIP1 |
A |
G |
exonic |
synonymous SNV |
BRIP1:NM_032043:exon20:c.T3411C:p.Y1137Y |
RS4986763 |
Cystatin C in serum:Height:Bipolar
disorder |
|
17 |
59763347 |
2 |
BRIP1 |
A |
G |
exonic |
nonsynonymous SNV |
BRIP1:NM_032043:exon19:c.T2755C:p.S919P |
RS4986764 |
Cystatin C in
serum:Height:Neuroblastoma (brain cancer):Bipolar disorder |
|
17 |
59763465 |
2 |
BRIP1 |
T |
C |
exonic |
synonymous SNV |
BRIP1:NM_032043:exon19:c.A2637G:p.E879E |
RS4986765 |
Height:Neuroblastoma (brain
cancer):Bipolar disorder |
|
17 |
59955426 |
2 |
INTS2 |
T |
G |
exonic |
nonsynonymous SNV |
INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H |
|
17 |
60043884 |
2 |
MED13 |
G |
A |
exonic |
synonymous SNV |
MED13:NM_005121:exon19:c.C4320T:p.D1440D |
|
17 |
60491144 |
2 |
EFCAB3 |
T |
C |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L |
|
17 |
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 |
60491201 |
2 |
EFCAB3 |
G |
A |
exonic |
nonsynonymous SNV |
EFCAB3:NM_173503:exon9:c.G976A:p.A326T,EFCAB3:NM_001144933:exon11:c.G1132A:p.A378T |
|
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 |
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 |
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 |
61901197 |
2 |
FTSJ3 |
T |
A |
exonic |
nonsynonymous SNV |
FTSJ3:NM_017647:exon13:c.A1270T:p.S424C |
RS2727288 |
Gene expression of FTSJ3 in JPT
lymphoblastoid cell lines:Gene expression of CD79B in CEU lymphoblastoid cell
lines:Methylation levels at chr17:59173697-59173747 [hg18 coord, probe
cg06873352] in Frontal cortex:Methylation levels at chr17:59173697-59173747
[hg18 coord, probe cg06873352] in Caudal pons:Methylation levels at
chr17:59173697-59173747 [hg18 coord, probe cg06873352] in
Cerebellum:Methylation levels at chr17:59173697-59173747 [hg18 coord, probe
cg06873352] in Temporal cortex |
|
17 |
61903445 |
2 |
FTSJ3 |
G |
C |
exonic |
nonsynonymous SNV |
FTSJ3:NM_017647:exon5:c.C271G:p.Q91E |
RS2584625 |
Gene expression of FTSJ3 in JPT
lymphoblastoid cell lines:Gene expression of CD79B in CEU lymphoblastoid cell
lines:Gene expression of FTSJ3 [probe 218103_at] in lymphoblastoid cell
lines:Methylation levels at chr17:59173697-59173747 [hg18 coord, probe cg06873352]
in Frontal cortex:Methylation levels at chr17:59173697-59173747 [hg18 coord,
probe cg06873352] in Caudal pons:Methylation levels at
chr17:59173697-59173747 [hg18 coord, probe cg06873352] in
Cerebellum:Methylation levels at chr17:59173697-59173747 [hg18 coord, probe
cg06873352] in Temporal cortex:Body mass index (BMI) |
|
17 |
62856285 |
2 |
LRRC37A3 |
C |
A |
exonic |
nonsynonymous SNV |
LRRC37A3:NM_001303255:exon8:c.G1333T:p.V445F,LRRC37A3:NM_199340:exon12:c.G3979T:p.V1327F |
|
17 |
62892265 |
1 |
LRRC37A3 |
T |
C |
exonic |
nonsynonymous SNV |
LRRC37A3:NM_199340:exon4:c.A1111G:p.R371G |
|
17 |
64783081 |
2 |
PRKCA |
G |
A |
exonic |
nonsynonymous SNV |
PRKCA:NM_002737:exon15:c.G1702A:p.V568I |
RS6504459 |
Fasting blood glucose:HDL
cholesterol:Microalbuminuria:Infant head circumference |
|
17 |
65104743 |
2 |
HELZ |
G |
A |
exonic |
nonsynonymous SNV |
HELZ:NM_001330447:exon30:c.C4592T:p.A1531V,HELZ:NM_014877:exon30:c.C4589T:p.A1530V |
RS11653020 |
HDL cholesterol:Barnes Akathisia
Rating Scale:HOMA-B:Total cholesterol:HDL cholesterol:PROP taste detection
threshold:College completion:Primary rhegmatogenous retinal
detachment:Transmission distortion:Paternal transmission distortion |
|
17 |
66246416 |
2 |
AMZ2 |
A |
G |
exonic |
nonsynonymous SNV |
AMZ2:NM_001033574:exon2:c.A88G:p.N30D,AMZ2:NM_001346471:exon2:c.A88G:p.N30D,AMZ2:NM_001346480:exon2:c.A88G:p.N30D,AMZ2:NM_016627:exon2:c.A88G:p.N30D,AMZ2:NM_001033569:exon3:c.A88G:p.N30D,AMZ2:NM_001033570:exon3:c.A88G:p.N30D,AMZ2:NM_001033571:exon3:c.A88G:p.N30D,AMZ2:NM_001033572:exon3:c.A88G:p.N30D,AMZ2:NM_001289054:exon3:c.A88G:p.N30D,AMZ2:NM_001289056:exon3:c.A88G:p.N30D,AMZ2:NM_001346472:exon3:c.A88G:p.N30D,AMZ2:NM_001346473:exon3:c.A88G:p.N30D,AMZ2:NM_001346474:exon3:c.A88G:p.N30D,AMZ2:NM_001346475:exon3:c.A88G:p.N30D,AMZ2:NM_001346476:exon3:c.A88G:p.N30D,AMZ2:NM_001346477:exon3:c.A88G:p.N30D,AMZ2:NM_001346478:exon3:c.A88G:p.N30D,AMZ2:NM_001346479:exon3:c.A88G:p.N30D |
RS3213690 |
Differential exon level expression
of AMZ2 [probe 3732766] in peripheral blood mononuclear cells:Fasting
insulin:HDL cholesterol:Total cholesterol:Serum creatinine:Systolic blood
pressure (SBP):Cognitive response of healthy volunteers to topiramate treatment
as measure by the Delayed Story Recall cognitive test:Gene expression change
of SLC16A6 (ENSG00000108932) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of AMZ2 (ENSG00000196704) in
dendritic cells treated with Mycobacterium tuberculosis:Gene expression of
AMZ2 in normal prepouch ileum |
|
17 |
67152996 |
2 |
ABCA10 |
T |
G |
exonic |
synonymous SNV |
ABCA10:NM_080282:exon29:c.A3432C:p.I1144I |
|
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 |
71232687 |
2 |
C17orf80 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L,C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001351264:exon3:c.T1066C:p.F356L,C17orf80:NM_001351265:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L |
RS745143 |
Gene expression of COG1 in
peripheral blood monocytes:Gene expression of C17ORF80 (probeID ILMN_1762071)
in breast tumors:Gene expression of FAM104A in normal prepouch ileum |
|
17 |
71232804 |
2 |
C17orf80 |
C |
A |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_001288770:exon3:c.C1183A:p.H395N,C17orf80:NM_001288771:exon3:c.C1183A:p.H395N,C17orf80:NM_001351264:exon3:c.C1183A:p.H395N,C17orf80:NM_001351265:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N |
|
17 |
71232807 |
2 |
C17orf80 |
T |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R,C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001351264:exon3:c.T1186C:p.C396R,C17orf80:NM_001351265:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R |
|
17 |
71232881 |
2 |
C17orf80 |
G |
C |
exonic |
nonsynonymous SNV |
C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351264:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351265:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H |
RS745142 |
Gene expression of FAM104A
[transcript NM_032837, probe A_24_P91232] in liver:Infant head circumference |
|
17 |
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 |
73127683 |
2 |
NT5C |
T |
C |
exonic |
synonymous SNV |
NT5C:NM_001252377:exon1:c.A120G:p.Q40Q,NT5C:NM_014595:exon1:c.A120G:p.Q40Q |
|
17 |
73230856 |
2 |
NUP85 |
C |
T |
exonic |
synonymous SNV |
NUP85:NM_001303276:exon16:c.C1602T:p.D534D,NUP85:NM_001330472:exon16:c.C1605T:p.D535D,NUP85:NM_024844:exon17:c.C1740T:p.D580D |
RS9988 |
HOMA-IR:Fasting
insulin:Triglycerides:Waist hip ratio:Body mass index (BMI):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Years of education:Gene expression of NUP85 (probeID ILMN_1669635) in
cerebellum in Alzheimer's disease cases and controls:Birth weight:Infant head
circumference:Gene expression of NUP85 (probeID ILMN_1669635) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of NUP85 in
normal prepouch ileum:Advanced age-related macular degeneration:Gene
expression of MRPS7 in normal prepouch ileum |
|
17 |
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 |
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 |
74381567 |
2 |
SPHK1 |
G |
A |
exonic |
nonsynonymous SNV |
SPHK1:NM_182965:exon2:c.G100A:p.A34T |
|
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 |
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 |
78298938 |
2 |
RNF213 |
A |
G |
exonic |
nonsynonymous SNV |
RNF213:NM_001256071:exon18:c.A3133G:p.N1045D |
|
17 |
78327358 |
2 |
RNF213 |
G |
A |
exonic |
synonymous SNV |
RNF213:NM_001256071:exon34:c.G10470A:p.E3490E |
RS7216493 |
Moyamoya disease:Gene expression of
RNF213 (probeID ILMN_1749722) in temporal cortex in Alzheimer's disease cases
and controls:Adiponectin levels:Birth weight:Gene expression of RNF213
(probeID ILMN_1749722) in cerebellum in Alzheimer's disease cases and
controls |
|
17 |
78354661 |
2 |
RNF213 |
C |
T |
exonic |
synonymous SNV |
RNF213:NM_001256071:exon56:c.C13671T:p.H4557H |
RS4889848 |
Gene expression of GTF2A1 in
peripheral blood monocytes:Gene expression of RNF213 in peripheral blood
monocytes:Autism:Autism with low IQ:Moyamoya disease:Comorbid depressive
syndrome and alcohol dependence:Gene expression of RNF213 (probeID
ILMN_1749722) in breast tumors:Gene expression of RNF213 (probeID
ILMN_1749722) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of RNF213 (probeID ILMN_1749722) in cerebellum in
Alzheimer's disease cases and controls |
|
17 |
79409309 |
2 |
BAHCC1 |
A |
G |
exonic |
unknown |
UNKNOWN |
|
17 |
79508400 |
2 |
FAAP100 |
T |
C |
exonic |
nonsynonymous SNV |
FAAP100:NM_025161:exon8:c.A2449G:p.T817A |
RS14422 |
Salmonella-induced pyroptosis |
|
17 |
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 |
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 |
80377690 |
2 |
HEXDC |
T |
G |
exonic |
synonymous SNV |
HEXDC:NM_001330542:exon2:c.T15G:p.T5T,HEXDC:NM_173620:exon2:c.T15G:p.T5T |
RS1141463 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of HEXDC
[transcript NM_173620, probe A_23_P300174] in liver:Advanced age-related
macular degeneration:Gene expression of HEXDC (ENSG00000169660) in dendritic
cells:Gene expression of HEXDC (ENSG00000169660) in dendritic cells treated
with Mycobacterium tuberculosis:Advanced age-related macular degeneration
(geographic atrophy):Gene expression of SECTM1 (ENSG00000141574) in dendritic
cells treated with Mycobacterium tuberculosis:Years of education |
|
17 |
80674643 |
2 |
FN3KRP |
C |
G |
exonic |
synonymous SNV |
FN3KRP:NM_024619:exon1:c.C12G:p.L4L |
|
17 |
80696410 |
2 |
FN3K |
A |
C |
exonic |
synonymous SNV |
FN3K:NM_022158:exon2:c.A187C:p.R63R |
|
17 |
80895933 |
2 |
TBCD |
A |
G |
exonic |
nonsynonymous SNV |
TBCD:NM_005993:exon36:c.A3290G:p.E1097G |
RS3785522 |
Coronary artery disease
(CAD):Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
17 |
81043039 |
2 |
METRNL |
A |
G |
exonic |
synonymous SNV |
METRNL:NM_001004431:exon2:c.A396G:p.P132P |
|
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 |
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 |
1 |
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 |
1 |
PTPRM |
G |
C |
exonic |
synonymous SNV |
PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T |
RS593950 |
Triglycerides:Fasting blood
glucose:Rheumatoid arthritis |
|
18 |
8784370 |
2 |
MTCL1 |
A |
G |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon6:c.A1260G:p.E420E |
|
18 |
8825192 |
1 |
MTCL1 |
A |
G |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon15:c.A3684G:p.G1228G |
|
18 |
8826083 |
1 |
MTCL1 |
G |
C |
exonic |
synonymous SNV |
MTCL1:NM_015210:exon15:c.G4575C:p.T1525T |
RS3744977 |
Gene expression of LIPE in
peripheral blood monocytes |
|
18 |
9117867 |
2 |
NDUFV2 |
T |
C |
exonic |
nonsynonymous SNV |
NDUFV2:NM_021074:exon2:c.T86C:p.V29A |
RS906807 |
LDL cholesterol:Years of education |
|
18 |
9255982 |
1 |
ANKRD12 |
A |
G |
exonic |
nonsynonymous SNV |
ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R |
RS4798791 |
Schizophrenia:Barnes Akathisia
Rating Scale:Celiac disease:Total cholesterol change with statins:LDL
cholesterol:LDL cholesterol change with statins:Alopecia areata:Body mass
index (BMI):Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene
expression of ANKRD12 in blood:Years of education:Aortic valve calcium |
|
18 |
10748603 |
2 |
PIEZO2 |
A |
T |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon28:c.T4215A:p.L1405L |
RS8096037 |
HDL cholesterol:College completion |
|
18 |
10758023 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N |
RS7407105 |
Salmonella-induced pyroptosis |
|
18 |
10763007 |
2 |
PIEZO2 |
T |
C |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon20:c.A2961G:p.T987T |
RS7227167 |
Irritible bowel
syndrome:Salmonella-induced pyroptosis |
|
18 |
10787047 |
2 |
PIEZO2 |
G |
A |
exonic |
synonymous SNV |
PIEZO2:NM_022068:exon16:c.C2305T:p.L769L |
|
18 |
11999115 |
1 |
IMPA2 |
T |
C |
exonic |
synonymous SNV |
IMPA2:NM_014214:exon2:c.T159C:p.L53L |
RS11545506 |
LDL cholesterol:Obesity with early
age of onset (age >2) |
|
18 |
12351342 |
1 |
AFG3L2 |
C |
T |
exonic |
synonymous SNV |
AFG3L2:NM_006796:exon11:c.G1389A:p.L463L |
RS11080572 |
LDL cholesterol change with statins |
|
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 |
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 |
21109250 |
2 |
C18orf8 |
T |
C |
exonic |
synonymous SNV |
C18orf8:NM_001318707:exon12:c.T933C:p.F311F,C18orf8:NM_001276342:exon13:c.T1260C:p.F420F,C18orf8:NM_001318709:exon13:c.T1260C:p.F420F,C18orf8:NM_001318708:exon14:c.T933C:p.F311F,C18orf8:NM_013326:exon15:c.T1404C:p.F468F |
RS1788825 |
HOMA-IR:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Years of education:College
completion:Obesity with early age of onset (age >2) |
|
18 |
21124945 |
2 |
NPC1 |
C |
G |
exonic |
nonsynonymous SNV |
NPC1:NM_000271:exon12:c.G1926C:p.M642I |
RS1788799 |
HOMA-IR:Height:Body mass index
(BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure
(DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age
>2):College completion:Years of education |
|
18 |
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 |
46284587 |
2 |
CTIF |
T |
C |
exonic |
synonymous SNV |
CTIF:NM_014772:exon8:c.T882C:p.L294L,CTIF:NM_001142397:exon9:c.T882C:p.L294L |
|
18 |
47563299 |
2 |
MYO5B |
T |
C |
exonic |
nonsynonymous SNV |
MYO5B:NM_001080467:exon4:c.A376G:p.T126A |
|
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 |
55226383 |
2 |
FECH |
G |
C |
exonic |
synonymous SNV |
FECH:NM_000140:exon7:c.C798G:p.P266P,FECH:NM_001012515:exon7:c.C816G:p.P272P |
|
18 |
55362532 |
2 |
ATP8B1 |
T |
G |
exonic |
synonymous SNV |
ATP8B1:NM_005603:exon10:c.A811C:p.R271R |
|
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 |
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 |
67345034 |
2 |
DOK6 |
T |
C |
exonic |
synonymous SNV |
DOK6:NM_152721:exon4:c.T354C:p.D118D |
|
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 |
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 |
77440128 |
2 |
CTDP1 |
T |
G |
exonic |
nonsynonymous SNV |
CTDP1:NM_001318511:exon1:c.T181G:p.S61A,CTDP1:NM_004715:exon1:c.T181G:p.S61A,CTDP1:NM_048368:exon1:c.T181G:p.S61A |
|
19 |
549678 |
2 |
GZMM |
A |
G |
exonic |
nonsynonymous SNV |
GZMM:NM_001258351:exon5:c.A544G:p.R182G,GZMM:NM_005317:exon5:c.A661G:p.R221G |
|
19 |
613898 |
2 |
HCN2 |
T |
C |
exonic |
synonymous SNV |
HCN2:NM_001194:exon7:c.T1872C:p.A624A |
|
19 |
965043 |
2 |
ARID3A |
T |
C |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon6:c.T1161C:p.N387N |
|
19 |
966693 |
2 |
ARID3A |
C |
T |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon7:c.C1320T:p.A440A |
RS6510986 |
LDL cholesterol change with
statins:Chronic kidney disease:Serum creatinine:LDL cholesterol:HDL
cholesterol:Total cholesterol:Triglycerides:Age at menarche:Adiponectin
levels |
|
19 |
971933 |
2 |
ARID3A |
A |
G |
exonic |
synonymous SNV |
ARID3A:NM_005224:exon9:c.A1650G:p.G550G |
RS1051504 |
Gene expression of ARID3A [probe
205865_at] in lymphoblastoid cell lines:Adiponectin levels |
|
19 |
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 |
1009485 |
2 |
GRIN3B |
C |
G |
exonic |
nonsynonymous SNV |
GRIN3B:NM_138690:exon9:c.C3016G:p.Q1006E |
|
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 |
1357082 |
2 |
MUM1 |
T |
C |
exonic |
synonymous SNV |
MUM1:NM_032853:exon3:c.T135C:p.S45S |
RS713042 |
Gene expression of CNN2 in CHB-JPT
lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid
cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell
lines:Gene expression of probe 230461_s_at in lymphoblastoid cell
lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no
arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid
arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal
prepouch ileum:Hypertension (early onset hypertension) |
|
19 |
1360575 |
2 |
MUM1 |
G |
A |
exonic |
nonsynonymous SNV |
MUM1:NM_032853:exon5:c.G658A:p.G220R |
RS3826942 |
HOMA-IR:Fasting insulin:Gene
expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of
MUM1 in CHB-JPT lymphoblastoid cell lines:Psoriasis and/or psoriatic
arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone
mineral density (BMD):Gene expression of MUM1 in blood:Gene expression of
MUM1 [probeset 223347_at] in sputum:Gene expression of MUM1 (probeID
ILMN_1764764) in cerebellum in Alzheimer's disease cases and controls:Years
of education:Hypertension (early onset hypertension):Gene expression of MUM1
(probeID ILMN_1764764) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of MUM1 in normal prepouch ileum:Pulmonary arterial
hypertension (PAH) |
|
19 |
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 |
1821637 |
2 |
REXO1 |
A |
G |
exonic |
nonsynonymous SNV |
REXO1:NM_020695:exon5:c.T2275C:p.S759P |
|
19 |
1848243 |
2 |
REXO1 |
A |
G |
exonic |
nonsynonymous SNV |
REXO1:NM_020695:exon1:c.T115C:p.S39P |
|
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 |
2249477 |
2 |
AMH |
G |
T |
exonic |
nonsynonymous SNV |
AMH:NM_000479:exon1:c.G146T:p.S49I |
RS10407022 |
Arthritis including
non-Rheumatoid:Gene expression of DOT1L in CD4+ lymphocytes:Height:Gene
expression of AMH [probe ILMN_11643] in osteoblasts treated with PGE2:Gene
expression of AMH [probe ILMN_11643] in osteoblasts treated with
dexamethasone:Ovarian stimulation for ovulation induction or
IVF:Microalbuminuria:Gene expression of SF3A2///AMH in blood:Gene expression
of C19orf35 in blood:Paternal transmission distortion:Gene expression of
SF3A2 (probeID ILMN_1754220) in cerebellum in Alzheimer's disease cases and
controls:Obesity with early age of onset (age >2):Transmission
distortion:Gene expression of SF3A2 (probeID ILMN_1754220) in temporal cortex
in Alzheimer's disease cases and controls |
|
19 |
2251512 |
2 |
AMH |
T |
A |
exonic |
synonymous SNV |
AMH:NM_000479:exon5:c.T1239A:p.G413G |
|
19 |
2251817 |
2 |
AMH |
T |
C |
exonic |
nonsynonymous SNV |
AMH:NM_000479:exon5:c.T1544C:p.V515A |
|
19 |
2339958 |
2 |
SPPL2B |
T |
C |
exonic |
unknown |
UNKNOWN |
|
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 |
3614403 |
2 |
CACTIN |
T |
C |
exonic |
synonymous SNV |
CACTIN:NM_001080543:exon7:c.A1347G:p.A449A,CACTIN:NM_021231:exon7:c.A1347G:p.A449A |
|
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 |
4180836 |
2 |
SIRT6 |
C |
T |
exonic |
nonsynonymous SNV |
SIRT6:NM_001193285:exon2:c.G137A:p.S46N,SIRT6:NM_001321059:exon2:c.G137A:p.S46N,SIRT6:NM_001321060:exon2:c.G137A:p.S46N,SIRT6:NM_001321063:exon2:c.G137A:p.S46N,SIRT6:NM_016539:exon2:c.G137A:p.S46N |
RS352493 |
HDL cholesterol:Schizophrenia:PROP
taste detection threshold:Transmission distortion |
|
19 |
4217207 |
2 |
ANKRD24 |
T |
G |
exonic |
nonsynonymous SNV |
ANKRD24:NM_133475:exon18:c.T2050G:p.S684A |
RS353693 |
Schizophrenia:Alzheimer's
disease:Triglycerides change with statins:Triglycerides:Total
cholesterol:College completion:Mitral annular calcium |
|
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 |
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 |
4511453 |
2 |
PLIN4 |
G |
A |
exonic |
nonsynonymous SNV |
PLIN4:NM_001080400:exon3:c.C2477T:p.A826V |
|
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 |
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 |
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 |
6415443 |
2 |
KHSRP |
T |
C |
exonic |
synonymous SNV |
KHSRP:NM_003685:exon18:c.A1914G:p.A638A |
|
19 |
6677989 |
2 |
C3 |
G |
A |
exonic |
synonymous SNV |
C3:NM_000064:exon41:c.C4896T:p.P1632P |
|
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 |
7293898 |
2 |
INSR |
G |
C |
exonic |
nonsynonymous SNV |
INSR:NM_000208:exon1:c.C5G:p.A2G,INSR:NM_001079817:exon1:c.C5G:p.A2G |
|
19 |
7528734 |
2 |
ARHGEF18 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R |
RS2287918 |
HOMA-IR:Cystatin C in serum:HDL
cholesterol:Diastolic blood pressure (DBP) |
|
19 |
7533767 |
2 |
ARHGEF18 |
T |
G |
exonic |
synonymous SNV |
ARHGEF18:NM_001130955:exon17:c.T2973G:p.R991R,ARHGEF18:NM_015318:exon18:c.T2499G:p.R833R |
|
19 |
7533850 |
2 |
ARHGEF18 |
A |
G |
exonic |
nonsynonymous SNV |
ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S |
|
19 |
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 |
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 |
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 |
10426628 |
2 |
FDX1L |
T |
C |
exonic |
synonymous SNV |
FDX1L:NM_001031734:exon1:c.A54G:p.L18L |
RS395782 |
2 hour glucose |
|
19 |
10600442 |
2 |
KEAP1 |
G |
C |
exonic |
synonymous SNV |
KEAP1:NM_012289:exon4:c.C1413G:p.L471L,KEAP1:NM_203500:exon4:c.C1413G:p.L471L |
RS1048290 |
Barnes Akathisia Rating
Scale:Tardive dyskinesia:Gene expression of AP1M2 [transcript NM_005498,
probe A_23_P78543] in liver:Years of education |
|
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 |
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 |
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 |
11891003 |
2 |
ZNF441 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF441:NM_152355:exon4:c.G364A:p.V122I |
RS799193 |
Crohn's disease:Irritible bowel
syndrome:LDL cholesterol:HDL cholesterol:Gene expression of ACP5 in
peripheral blood monocytes:HDL cholesterol:Gene expression of ACP5 in blood |
|
19 |
11977031 |
2 |
ZNF439 |
T |
C |
exonic |
synonymous SNV |
ZNF439:NM_152262:exon1:c.T60C:p.A20A,ZNF439:NM_001348718:exon2:c.T84C:p.A28A,ZNF439:NM_001348719:exon2:c.T75C:p.A25A,ZNF439:NM_001348721:exon2:c.T21C:p.A7A,ZNF439:NM_001348720:exon3:c.T21C:p.A7A |
|
19 |
11977035 |
2 |
ZNF439 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF439:NM_152262:exon1:c.A64G:p.K22E,ZNF439:NM_001348718:exon2:c.A88G:p.K30E,ZNF439:NM_001348719:exon2:c.A79G:p.K27E,ZNF439:NM_001348721:exon2:c.A25G:p.K9E,ZNF439:NM_001348720:exon3:c.A25G:p.K9E |
|
19 |
12222381 |
2 |
ZNF788 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF788:NM_001348164:exon2:c.C19G:p.R7G,ZNF788:NM_001348165:exon3:c.C19G:p.R7G,ZNF788:NM_001348163:exon4:c.C19G:p.R7G |
RS1866382 |
Rheumatoid arthritis:Waist hip
ratio:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Infant head circumference:Advanced age-related
macular degeneration |
|
19 |
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 |
14185226 |
2 |
MISP3 |
T |
C |
exonic |
nonsynonymous SNV |
MISP3:NM_001291291:exon2:c.T593C:p.V198A |
RS7258963 |
LDL cholesterol:Total
cholesterol:Height:Gene expression of LOC113230 (ENSG00000141854) in
dendritic cells |
|
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 |
14817548 |
2 |
ZNF333 |
T |
A |
exonic |
synonymous SNV |
ZNF333:NM_001300912:exon7:c.T474A:p.T158T,ZNF333:NM_032433:exon7:c.T474A:p.T158T |
RS6511961 |
College completion |
|
19 |
15285052 |
2 |
NOTCH3 |
T |
C |
exonic |
synonymous SNV |
NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P |
|
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 |
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 |
17393504 |
2 |
ANKLE1 |
G |
C |
exonic |
synonymous SNV |
ANKLE1:NM_001278443:exon3:c.G384C:p.A128A,ANKLE1:NM_001278444:exon3:c.G417C:p.A139A,ANKLE1:NM_001278445:exon3:c.G321C:p.A107A,ANKLE1:NM_152363:exon3:c.G417C:p.A139A |
|
19 |
17396549 |
2 |
ANKLE1 |
T |
C |
exonic |
synonymous SNV |
ANKLE1:NM_001278443:exon8:c.T1647C:p.G549G,ANKLE1:NM_001278445:exon8:c.T1584C:p.G528G,ANKLE1:NM_152363:exon8:c.T1758C:p.G586G |
RS751599 |
Gene expression of ANKRD41 in
peripheral blood monocytes:College completion |
|
19 |
17628587 |
2 |
PGLS |
A |
G |
exonic |
synonymous SNV |
PGLS:NM_012088:exon4:c.A567G:p.T189T |
|
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 |
18272190 |
2 |
PIK3R2 |
A |
C |
exonic |
nonsynonymous SNV |
PIK3R2:NM_005027:exon6:c.A700C:p.S234R |
|
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 |
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 |
18710535 |
1 |
CRLF1 |
G |
A |
exonic |
synonymous SNV |
CRLF1:NM_004750:exon2:c.C237T:p.N79N |
RS2238647 |
Spine bone mineral density
(BMD):Stabilized warfarin dose:Major depressive disorder (broad
definition):Major depressive disorder (broad definition) (females):Major
depressive disorder (broad definition) (males):Major depressive disorder
(narrow definition):Major depressive disorder (narrow definition)
(females):Major depressive disorder (narrow definition)
(males):Microalbuminuria:Gene expression of [probe 6550358 centered at
chr19:18549166] in blood:Gene expression of LRRC25///PGPEP1 in blood:Gene
expression of ELL///PGPEP1 in blood:Gene expression of SSBP4 in blood:Gene
expression of C19orf60 in blood:Variant Creutzfeldt-Jakob disease:Primary
rhegmatogenous retinal detachment |
|
19 |
18726856 |
2 |
TMEM59L |
T |
C |
exonic |
synonymous SNV |
TMEM59L:NM_012109:exon4:c.T480C:p.L160L |
RS709679 |
Triglycerides:Fasting
insulin:HOMA-IR:Serum creatinine:Triglycerides:HDL cholesterol:Gene
expression of ELL (ENSG00000105656) in dendritic cells:Gene expression of
CRTC1 (ENSG00000105662) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression change of CRTC1 (ENSG00000105662) in dendritic
cells after treatment 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 |
19136541 |
1 |
SUGP2 |
C |
T |
exonic |
nonsynonymous SNV |
SUGP2:NM_001017392:exon3:c.G616A:p.G206S,SUGP2:NM_001321697:exon3:c.G616A:p.G206S,SUGP2:NM_001321698:exon3:c.G658A:p.G220S,SUGP2:NM_001321699:exon3:c.G658A:p.G220S,SUGP2:NM_014884:exon3:c.G616A:p.G206S |
RS4808907 |
HDL cholesterol change with
statins:Gene expression of SFRS14 in blood:Birth weight |
|
19 |
19735257 |
2 |
LPAR2 |
G |
T |
exonic |
synonymous SNV |
LPAR2:NM_004720:exon3:c.C864A:p.S288S |
|
19 |
21719401 |
1 |
ZNF429 |
T |
C |
exonic |
synonymous SNV |
ZNF429:NM_001346916:exon3:c.T354C:p.F118F,ZNF429:NM_001001415:exon4:c.T546C:p.F182F,ZNF429:NM_001346912:exon4:c.T540C:p.F180F,ZNF429:NM_001346914:exon4:c.T450C:p.F150F,ZNF429:NM_001346913:exon5:c.T450C:p.F150F,ZNF429:NM_001346915:exon5:c.T450C:p.F150F |
|
19 |
21909948 |
1 |
ZNF100 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF100:NM_001351672:exon3:c.C521T:p.T174I,ZNF100:NM_001351670:exon4:c.C1067T:p.T356I,ZNF100:NM_001351671:exon4:c.C863T:p.T288I,ZNF100:NM_001351669:exon5:c.C1163T:p.T388I,ZNF100:NM_173531:exon5:c.C1166T:p.T389I |
|
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 |
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 |
33617583 |
1 |
GPATCH1 |
C |
T |
exonic |
synonymous SNV |
GPATCH1:NM_018025:exon19:c.C2709T:p.S903S |
RS6510356 |
Years of education:College
completion:Gene expression of RHPN2 (probeID ILMN_1753143) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of GPATCH1
(ENSG00000076650) in dendritic cells:Gene expression of GPATCH1 (probeID
ILMN_1655625) in temporal cortex in Alzheimer's disease cases:Gene expression
change of GPATCH1 (ENSG00000076650) in dendritic cells after treatment with
Mycobacterium tuberculosis:Gene expression of GPATCH1 (probeID ILMN_1655625)
in temporal cortex in Alzheimer's disease cases and controls |
|
19 |
33696897 |
1 |
LRP3 |
C |
T |
exonic |
synonymous SNV |
LRP3:NM_002333:exon5:c.C1221T:p.G407G |
|
19 |
33698291 |
2 |
LRP3 |
T |
C |
exonic |
nonsynonymous SNV |
LRP3:NM_002333:exon7:c.T2123C:p.V708A |
RS3745974 |
Autism with verbal ability:Autism |
|
19 |
33878837 |
2 |
PEPD |
G |
A |
exonic |
nonsynonymous SNV |
PEPD:NM_001166056:exon12:c.C1180T:p.L394F,PEPD:NM_001166057:exon12:c.C1111T:p.L371F,PEPD:NM_000285:exon14:c.C1303T:p.L435F |
RS17570 |
Spine bone mineral density
(BMD):Gene expression of PEPD [probe ILMN_22829] in osteoblasts treated with
PGE2:Gene expression of CEBPA in blood:Gene expression of PEPD in
blood:Hypertension (early onset hypertension) |
|
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 |
35449409 |
1 |
ZNF792 |
G |
A |
exonic |
synonymous SNV |
ZNF792:NM_175872:exon4:c.C1350T:p.H450H |
RS2651081 |
HDL cholesterol:HOMA-B:LDL
cholesterol:Total cholesterol:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Microalbuminuria:Gene expression of ZNF30
(probeID ILMN_1728230) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of ZNF30 (probeID ILMN_1728230) in temporal cortex
in Alzheimer's disease cases and controls |
|
19 |
35449760 |
1 |
ZNF792 |
G |
C |
exonic |
synonymous SNV |
ZNF792:NM_175872:exon4:c.C999G:p.T333T |
RS2651080 |
HDL cholesterol:HOMA-B:LDL
cholesterol:Total cholesterol:Body mass index (BMI):Urinary
albumin-to-creatinine ratio:Microalbuminuria:Presence of peripupillary
pigmented ring:Gene expression of ZNF30 (probeID ILMN_1728230) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of ZNF30 (probeID
ILMN_1728230) in temporal cortex in Alzheimer's disease cases and controls |
|
19 |
35741456 |
2 |
LSR |
T |
C |
exonic |
synonymous SNV |
LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V |
RS2073900 |
Schizophrenia:Asthma:Gene
expression of HPN in blood:Gene expression of FXYD5 in
blood:Salmonella-induced pyroptosis:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Primary rhegmatogenous retinal
detachment:Adiponectin levels |
|
19 |
36142187 |
1 |
COX6B1 |
C |
T |
exonic |
synonymous SNV |
COX6B1:NM_001863:exon2:c.C42T:p.T14T |
|
19 |
36218478 |
1 |
KMT2B |
C |
T |
exonic |
synonymous SNV |
KMT2B:NM_014727:exon16:c.C4257T:p.G1419G |
RS11670414 |
Lysine/valine ratio |
|
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 |
36590329 |
2 |
WDR62 |
T |
C |
exonic |
nonsynonymous SNV |
WDR62:NM_001083961:exon22:c.T2549C:p.L850S,WDR62:NM_173636:exon22:c.T2549C:p.L850S |
RS2285745 |
Spine bone mineral density
(BMD):Gene expression of POLR2I in blood:Gene expression of ALKBH6///CLIP3 in
blood:Gene expression of CAPNS1///COX7A1 in blood:Advanced age-related
macular degeneration (choroidal neovascularization) vs. no AMD |
|
19 |
37854235 |
1 |
HKR1 |
G |
T |
exonic |
nonsynonymous SNV |
HKR1:NM_001329773:exon4:c.G1358T:p.S453I,HKR1:NM_001329776:exon4:c.G1355T:p.S452I,HKR1:NM_001329761:exon5:c.G1484T:p.S495I,HKR1:NM_001329762:exon5:c.G1484T:p.S495I,HKR1:NM_001329764:exon5:c.G1481T:p.S494I,HKR1:NM_001329768:exon5:c.G1442T:p.S481I,HKR1:NM_001329769:exon5:c.G1439T:p.S480I,HKR1:NM_001329779:exon5:c.G1196T:p.S399I,HKR1:NM_001329772:exon6:c.G1358T:p.S453I,HKR1:NM_001329775:exon6:c.G1355T:p.S452I,HKR1:NM_001329777:exon6:c.G1355T:p.S452I,HKR1:NM_001329778:exon6:c.G1355T:p.S452I,HKR1:NM_181786:exon6:c.G1538T:p.S513I,HKR1:NM_001329766:exon7:c.G1466T:p.S489I,HKR1:NM_001329771:exon7:c.G1358T:p.S453I,HKR1:NM_001329774:exon7:c.G1355T:p.S452I,HKR1:NM_001329763:exon8:c.G1481T:p.S494I,HKR1:NM_001329765:exon8:c.G1466T:p.S489I,HKR1:NM_001329767:exon8:c.G1463T:p.S488I,HKR1:NM_001329770:exon8:c.G1424T:p.S475I |
RS3745765 |
2 hour glucose:Fasting
insulin:HOMA-IR:LDL cholesterol change with statins:Triglycerides:Age at
death with kuru exposure |
|
19 |
37879589 |
1 |
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 |
38798086 |
1 |
YIF1B |
T |
C |
exonic |
synonymous SNV |
YIF1B:NM_001039671:exon7:c.A726G:p.V242V,YIF1B:NM_001039672:exon7:c.A771G:p.V257V,YIF1B:NM_001039673:exon7:c.A762G:p.V254V,YIF1B:NM_001145461:exon7:c.A720G:p.V240V,YIF1B:NM_001145462:exon7:c.A678G:p.V226V,YIF1B:NM_001145463:exon7:c.A762G:p.V254V |
RS3178327 |
Gene expression of C19orf33 in
normal prepouch ileum:Gene expression of C19orf33 (probeID ILMN_1717793) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of
C19orf33 (probeID ILMN_1717793) in temporal cortex in Alzheimer's disease cases
and controls:Gene expression of C19orf33 (ENSG00000167644) in dendritic cells |
|
19 |
38800165 |
1 |
YIF1B |
C |
T |
exonic |
synonymous SNV |
YIF1B:NM_001039671:exon2:c.G132A:p.L44L,YIF1B:NM_001039672:exon2:c.G177A:p.L59L,YIF1B:NM_001039673:exon2:c.G168A:p.L56L,YIF1B:NM_001145461:exon2:c.G126A:p.L42L,YIF1B:NM_001145462:exon2:c.G84A:p.L28L,YIF1B:NM_001145463:exon2:c.G168A:p.L56L |
RS3900981 |
HDL cholesterol change with
statins:Gene expression of C19orf33 in liver:Gene expression of SPINT2 in
blood:Gene expression of C19orf33 in blood:Gene expression of
C19orf33///YIF1B in blood:Gene expression of PPP1R14A in blood:Gene
expression of YIF1B in blood:Gene expression of C19orf33 (probeID
ILMN_1717793) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of C19orf33 (probeID ILMN_1717793) in temporal cortex in
Alzheimer's disease cases:Gene expression of C19orf33 (probeID ILMN_1717793)
in cerebellum in non-Alzheimer's disease samples:Gene expression of C19orf33
(probeID ILMN_1717793) in cerebellum in Progressive Supranuclear Palsy
cases:Gene expression of C19orf33 (probeID ILMN_1717793) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of C19orf33
(probeID ILMN_1717793) in cerebellum in Alzheimer's disease cases:Gene
expression of C19orf33 in normal prepouch ileum:Gene expression of C19orf33
(probeID ILMN_1717793) in temporal cortex in Progressive Supranuclear Palsy
cases |
|
19 |
38896244 |
1 |
FAM98C |
C |
A |
exonic |
nonsynonymous SNV |
FAM98C:NM_001351675:exon5:c.C641A:p.T214K,FAM98C:NM_174905:exon6:c.C719A:p.T240K |
RS3745962 |
Neuroticism:Gene expression of
RASGRP4 in peripheral blood monocytes:Gene expression of FAM98C in peripheral
blood monocytes |
|
19 |
39914748 |
1 |
PLEKHG2 |
G |
A |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K |
RS31726 |
Gene expression of RPS16 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression
of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential
exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL
cholesterol change with statins:Total cholesterol change with
statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene
expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension
(early onset hypertension):Aortic valve calcium:Maternal transmission
distortion |
|
19 |
39915637 |
1 |
PLEKHG2 |
G |
A |
exonic |
synonymous SNV |
PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q |
RS31727 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Aortic valve calcium |
|
19 |
39915758 |
1 |
PLEKHG2 |
C |
G |
exonic |
nonsynonymous SNV |
PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A |
RS31728 |
LDL cholesterol change with
statins:Total cholesterol change with statins:Gene expression of SAMD4B
(ENSG00000179134) in dendritic cells:Gene expression of RPS16 in normal
prepouch ileum:Aortic valve calcium |
|
19 |
40023308 |
2 |
EID2B |
A |
G |
exonic |
synonymous SNV |
EID2B:NM_152361:exon1:c.T135C:p.A45A |
|
19 |
40719076 |
2 |
MAP3K10 |
T |
C |
exonic |
synonymous SNV |
MAP3K10:NM_002446:exon8:c.T1818C:p.F606F |
RS1129156 |
Gene expression of FLJ36888 in CEU
lymphoblastoid cell lines:HOMA-B:HDL cholesterol change with statins:Cystatin
C in serum:Waist hip ratio:Microalbuminuria:Gene expression of BLVRB in
blood:Gene expression of SERTAD1 in blood:Gene expression of PLD3///HIPK4 in
blood:Diastolic blood pressure (DBP):Aortic valve calcium:Tetrology of fallot |
|
19 |
40720079 |
2 |
MAP3K10 |
C |
T |
exonic |
synonymous SNV |
MAP3K10:NM_002446:exon9:c.C2493T:p.D831D |
|
19 |
40900865 |
2 |
PRX |
C |
T |
exonic |
nonsynonymous SNV |
PRX:NM_181882:exon7:c.G3394A:p.G1132R |
RS268674 |
HDL cholesterol:Refractive
error:Parkinson's disease |
|
19 |
41173880 |
2 |
NUMBL |
C |
T |
exonic |
synonymous SNV |
NUMBL:NM_001289979:exon9:c.G1200A:p.Q400Q,NUMBL:NM_001289980:exon9:c.G1200A:p.Q400Q,NUMBL:NM_004756:exon10:c.G1323A:p.Q441Q |
|
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 |
41627496 |
2 |
CYP2F1 |
C |
T |
exonic |
synonymous SNV |
CYP2F1:NM_000774:exon5:c.C618T:p.F206F |
|
19 |
41811730 |
2 |
HNRNPUL1 |
T |
C |
exonic |
synonymous SNV |
HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T |
|
19 |
42736267 |
2 |
GSK3A |
A |
G |
exonic |
synonymous SNV |
GSK3A:NM_019884:exon10:c.T1320C:p.L440L |
|
19 |
43979589 |
1 |
PHLDB3 |
G |
T |
exonic |
synonymous SNV |
PHLDB3:NM_198850:exon16:c.C1896A:p.T632T |
RS1055099 |
LDL cholesterol:Waist hip
ratio:Gene expression of PHLDB3 in blood:Gene expression of LOC653583 in
liver:Gene expression of LOC732075 in liver:Gene expression of ETHE1
(ENSG00000105755) in dendritic cells:Gene expression of PHLDB3 in normal
prepouch ileum:Advanced age-related macular degeneration (geographic
atrophy):Primary rhegmatogenous retinal detachment |
|
19 |
44047826 |
2 |
XRCC1 |
T |
A |
exonic |
nonsynonymous SNV |
XRCC1:NM_006297:exon16:c.A1726T:p.N576Y |
|
19 |
44351694 |
2 |
ZNF283 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF283:NM_001297752:exon6:c.C524T:p.T175I,ZNF283:NM_181845:exon7:c.C941T:p.T314I |
RS2195980 |
HOMA-B:HOMA-IR:Fasting insulin:LDL
cholesterol change with statins:Total cholesterol change with
statins:Advanced age-related macular degeneration |
|
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 |
44470189 |
2 |
ZNF221 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF221:NM_001297588:exon5:c.T535A:p.F179I,ZNF221:NM_001297589:exon5:c.T535A:p.F179I,ZNF221:NM_013359:exon6:c.T535A:p.F179I |
|
19 |
44471209 |
2 |
ZNF221 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF221:NM_001297588:exon5:c.T1555A:p.S519T,ZNF221:NM_001297589:exon5:c.T1555A:p.S519T,ZNF221:NM_013359:exon6:c.T1555A:p.S519T |
RS365745 |
HDL cholesterol:Gene expression of
APOE [probe 203381_s_at] in prefrontal cortex:Chronic kidney disease:Serum
creatinine:Gene expression of KCNN4 in peripheral blood monocytes:LDL
cholesterol |
|
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 |
44500701 |
1 |
ZNF155 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF155:NM_001260486:exon5:c.C692T:p.P231L,ZNF155:NM_001260487:exon5:c.C692T:p.P231L,ZNF155:NM_003445:exon5:c.C692T:p.P231L,ZNF155:NM_198089:exon5:c.C692T:p.P231L,ZNF155:NM_001260488:exon6:c.C725T:p.P242L |
|
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 |
44564981 |
2 |
ZNF223 |
G |
A |
exonic |
synonymous SNV |
ZNF223:NM_013361:exon4:c.G222A:p.R74R |
RS3826941 |
2 hour glucose:LDL cholesterol
change with statins:Bipolar disorder:Salmonella-induced pyroptosis:Gene
expression of ZNF223 in normal prepouch ileum:Gene expression of ZNF230 in
normal prepouch ileum |
|
19 |
44570551 |
2 |
ZNF223 |
G |
A |
exonic |
synonymous SNV |
ZNF223:NM_013361:exon5:c.G570A:p.A190A |
RS4375771 |
HOMA-IR:LDL cholesterol change with
statins |
|
19 |
44610665 |
2 |
ZNF224 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF224:NM_001321645:exon6:c.A352G:p.M118V,ZNF224:NM_013398:exon6:c.A352G:p.M118V |
RS2068061 |
Bipolar disorder:Irritible bowel
syndrome:Differential exon level expression of ZNF223 [probe 3835379] in
brain cortex:LDL cholesterol change with statins:Gene expression of
ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in blood:Bipolar
disorder:Tetrology of fallot:Gene expression of ZNF230 in normal prepouch
ileum:Gene expression of ZNF223 in normal prepouch ileum |
|
19 |
44610798 |
2 |
ZNF224 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF224:NM_001321645:exon6:c.A485T:p.H162L,ZNF224:NM_013398:exon6:c.A485T:p.H162L |
|
19 |
44611066 |
1 |
ZNF224 |
T |
C |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.T753C:p.H251H,ZNF224:NM_013398:exon6:c.T753C:p.H251H |
RS7508149 |
Gene expression of ZNF221 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines |
|
19 |
44611957 |
1 |
ZNF224 |
T |
C |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.T1644C:p.S548S,ZNF224:NM_013398:exon6:c.T1644C:p.S548S |
|
19 |
44612005 |
1 |
ZNF224 |
A |
G |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.A1692G:p.G564G,ZNF224:NM_013398:exon6:c.A1692G:p.G564G |
|
19 |
44612014 |
1 |
ZNF224 |
A |
T |
exonic |
synonymous SNV |
ZNF224:NM_001321645:exon6:c.A1701T:p.P567P,ZNF224:NM_013398:exon6:c.A1701T:p.P567P |
|
19 |
44660967 |
1 |
ZNF234 |
A |
G |
exonic |
synonymous SNV |
ZNF234:NM_001144824:exon6:c.A798G:p.G266G,ZNF234:NM_006630:exon6:c.A798G:p.G266G |
RS12609635 |
Triglycerides:Cystatin C in
serum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Advanced age-related macular degeneration |
|
19 |
44739303 |
1 |
ZNF227 |
T |
C |
exonic |
synonymous SNV |
ZNF227:NM_001289170:exon4:c.T483C:p.N161N,ZNF227:NM_001289171:exon4:c.T483C:p.N161N,ZNF227:NM_001289172:exon4:c.T429C:p.N143N,ZNF227:NM_001289168:exon5:c.T567C:p.N189N,ZNF227:NM_001289169:exon5:c.T567C:p.N189N,ZNF227:NM_001289173:exon5:c.T636C:p.N212N,ZNF227:NM_001289166:exon6:c.T720C:p.N240N,ZNF227:NM_001289167:exon6:c.T567C:p.N189N,ZNF227:NM_182490:exon6:c.T720C:p.N240N |
RS2279073 |
Height:Bipolar disorder:Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Advanced age-related macular degeneration:Mitral annular calcium |
|
19 |
44739399 |
2 |
ZNF227 |
T |
C |
exonic |
synonymous SNV |
ZNF227:NM_001289170:exon4:c.T579C:p.H193H,ZNF227:NM_001289171:exon4:c.T579C:p.H193H,ZNF227:NM_001289172:exon4:c.T525C:p.H175H,ZNF227:NM_001289168:exon5:c.T663C:p.H221H,ZNF227:NM_001289169:exon5:c.T663C:p.H221H,ZNF227:NM_001289173:exon5:c.T732C:p.H244H,ZNF227:NM_001289166:exon6:c.T816C:p.H272H,ZNF227:NM_001289167:exon6:c.T663C:p.H221H,ZNF227:NM_182490:exon6:c.T816C:p.H272H |
RS2279072 |
Bipolar disorder:Advanced
age-related macular degeneration:Gene expression of ZNF233 in normal prepouch
ileum:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD:Mitral annular calcium |
|
19 |
44778405 |
2 |
ZNF233 |
A |
C |
exonic |
nonsynonymous SNV |
ZNF233:NM_001207005:exon5:c.A1592C:p.K531T,ZNF233:NM_181756:exon5:c.A1592C:p.K531T |
RS1233428 |
LDL cholesterol:Total cholesterol |
|
19 |
44833506 |
2 |
ZNF112 |
C |
T |
exonic |
synonymous SNV |
ZNF112:NM_001348284:exon3:c.G621A:p.E207E,ZNF112:NM_001348282:exon4:c.G804A:p.E268E,ZNF112:NM_001348283:exon4:c.G804A:p.E268E,ZNF112:NM_013380:exon4:c.G804A:p.E268E,ZNF112:NM_001083335:exon5:c.G822A:p.E274E,ZNF112:NM_001348281:exon5:c.G873A:p.E291E,ZNF112:NM_001348285:exon5:c.G621A:p.E207E |
RS4325673 |
LDL cholesterol:Mitral annular
calcium |
|
19 |
44833851 |
2 |
ZNF112 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF112:NM_001348284:exon3:c.C276G:p.F92L,ZNF112:NM_001348282:exon4:c.C459G:p.F153L,ZNF112:NM_001348283:exon4:c.C459G:p.F153L,ZNF112:NM_013380:exon4:c.C459G:p.F153L,ZNF112:NM_001083335:exon5:c.C477G:p.F159L,ZNF112:NM_001348281:exon5:c.C528G:p.F176L,ZNF112:NM_001348285:exon5:c.C276G:p.F92L |
RS4280359 |
Cystatin C in serum:LDL
cholesterol:Total cholesterol:Mitral annular calcium |
|
19 |
44891784 |
2 |
ZNF285 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF285:NM_001291491:exon3:c.A158G:p.N53S,ZNF285:NM_001291489:exon4:c.A623G:p.N208S,ZNF285:NM_152354:exon4:c.A623G:p.N208S,ZNF285:NM_001291488:exon5:c.A644G:p.N215S,ZNF285:NM_001291490:exon5:c.A158G:p.N53S |
RS2571089 |
HDL cholesterol change with
statins:Urinary albumin-to-creatinine ratio:Microalbuminuria |
|
19 |
44934489 |
2 |
ZNF229 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF229:NM_001278510:exon6:c.C449T:p.S150F,ZNF229:NM_014518:exon6:c.C467T:p.S156F |
RS2571174 |
Lp-PLA2 mass:LDL cholesterol |
|
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 |
45912736 |
1 |
CD3EAP |
C |
A |
exonic |
nonsynonymous SNV |
CD3EAP:NM_001297590:exon3:c.C1516A:p.Q506K,CD3EAP:NM_012099:exon3:c.C1510A:p.Q504K |
RS3212986 |
Cystatin C in serum:Neuroblastoma
(brain cancer):Gene expression of VASP in blood:Gene expression of ERCC1 in
blood:Gene expression of CD3EAP///ERCC1 in blood:Sporadic Creutzfeldt-Jakob
disease:Hypertension (early onset hypertension):Salmonella-induced pyroptosis:Refractive
error |
|
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 |
46341824 |
1 |
SYMPK |
C |
T |
exonic |
synonymous SNV |
SYMPK:NM_004819:exon10:c.G1137A:p.P379P |
|
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 |
47585517 |
1 |
ZC3H4 |
G |
C |
exonic |
synonymous SNV |
ZC3H4:NM_015168:exon10:c.C1254G:p.L418L |
RS7250850 |
Cystatin C in serum:HDL
cholesterol:Triglycerides:Body mass index (BMI):Allele-specific Expression
Patterns in human glioblastoma cell line U87MG:Obesity with early age of
onset (age >2) |
|
19 |
47770015 |
1 |
CCDC9 |
A |
C |
exonic |
synonymous SNV |
CCDC9:NM_015603:exon8:c.A868C:p.R290R |
|
19 |
47774572 |
1 |
CCDC9 |
C |
T |
exonic |
synonymous SNV |
CCDC9:NM_015603:exon12:c.C1233T:p.D411D |
|
19 |
47774772 |
1 |
CCDC9 |
T |
C |
exonic |
nonsynonymous SNV |
CCDC9:NM_015603:exon12:c.T1433C:p.L478P |
RS888836 |
Triglycerides:HDL
cholesterol:Triglycerides:Birth weight:Advanced age-related macular
degeneration:Advanced age-related macular degeneration (choroidal
neovascularization) vs. no AMD |
|
19 |
47778412 |
1 |
INAFM1 |
G |
T |
exonic |
nonsynonymous SNV |
INAFM1:NM_178511:exon1:c.G236T:p.R79L |
|
19 |
49839015 |
2 |
CD37 |
T |
C |
exonic |
synonymous SNV |
CD37:NM_001774:exon2:c.T114C:p.I38I |
RS354021 |
HOMA-B |
|
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 |
50097784 |
1 |
PRR12 |
T |
C |
exonic |
synonymous SNV |
PRR12:NM_020719:exon3:c.T273C:p.L91L |
|
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 |
50435747 |
2 |
ATF5 |
T |
C |
exonic |
synonymous SNV |
ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_001290746:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L |
RS283525 |
Spine bone mineral density
(BMD):Stabilized warfarin dose:Serum creatinine:Gene expression of
PTOV1///PNKP in blood:Diastolic blood pressure (DBP):Systolic blood pressure
(SBP) |
|
19 |
50435862 |
2 |
ATF5 |
C |
T |
exonic |
nonsynonymous SNV |
ATF5:NM_001193646:exon3:c.C362T:p.P121L,ATF5:NM_001290746:exon3:c.C362T:p.P121L,ATF5:NM_012068:exon4:c.C362T:p.P121L |
RS283526 |
Stabilized warfarin dose:Fasting
blood glucose:Serum creatinine:Body mass index (BMI):Microalbuminuria:Urinary
albumin-to-creatinine ratio:Gene expression of PTOV1///PNKP in blood:Gene
expression of AP2A1 in blood:Gene expression of [probe 4200068 centered at
chr19:55102057] in blood |
|
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 |
50905042 |
1 |
POLD1 |
G |
A |
exonic |
synonymous SNV |
POLD1:NM_001308632:exon3:c.G324A:p.A108A,POLD1:NM_001256849:exon4:c.G324A:p.A108A,POLD1:NM_002691:exon4:c.G324A:p.A108A |
RS20582 |
Aortic valve calcium:Gene
expression of NAPSB (probeID ILMN_2109416) in cerebellum in Alzheimer's
disease cases and controls:Gene expression of NAPSB (probeID ILMN_2109416) in
temporal cortex in Alzheimer's disease cases and controls:Refractive
error:Years of education:Gene expression of NAPSB (probeID ILMN_2109416) in
temporal cortex in non-Alzheimer's disease samples:Gene expression of NAPSB
(probeID ILMN_2109416) in cerebellum in non-Alzheimer's disease samples |
|
19 |
50905074 |
1 |
POLD1 |
G |
A |
exonic |
nonsynonymous SNV |
POLD1:NM_001308632:exon3:c.G356A:p.R119H,POLD1:NM_001256849:exon4:c.G356A:p.R119H,POLD1:NM_002691:exon4:c.G356A:p.R119H |
RS1726801 |
Barnes Akathisia Rating
Scale:HOMA-B:Gene expression of NAPSB (probeID ILMN_2109416) in temporal
cortex in Alzheimer's disease cases and controls:Gene expression of NAPSB
(probeID ILMN_2109416) in cerebellum in Alzheimer's disease cases and
controls:Aortic valve calcium:Gene expression of NAPSB (probeID ILMN_2109416)
in cerebellum in non-Alzheimer's disease samples:Years of
education:Refractive error:Gene expression of NAPSB (probeID ILMN_2109416) in
temporal cortex in non-Alzheimer's disease samples |
|
19 |
51837171 |
1 |
VSIG10L |
A |
G |
exonic |
synonymous SNV |
VSIG10L:NM_001163922:exon9:c.T2448C:p.P816P |
RS7255306 |
Gene expression of CLDND2
(ENSG00000160318) in dendritic cells treated with Mycobacterium tuberculosis |
|
19 |
52519608 |
1 |
ZNF614 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF614:NM_025040:exon5:c.G1243A:p.V415I |
RS8104890 |
Triglycerides:HDL
cholesterol:Differential exon level expression of ZNF614 [probe 3869388] in
brain cortex:Differential exon level expression of ZNF614 [probe 3869388] in
peripheral blood mononuclear cells:HOMA-B:HDL cholesterol:Urinary
albumin-to-creatinine ratio:Advanced age-related macular degeneration
(geographic atrophy):Adiponectin levels:Gene expression of ZNF614
(ENSG00000142556) in dendritic cells treated with Mycobacterium
tuberculosis:Gene expression of ZNF614 in normal prepouch ileum |
|
19 |
52521296 |
1 |
ZNF614 |
G |
A |
exonic |
nonsynonymous SNV |
ZNF614:NM_025040:exon4:c.C203T:p.T68I |
RS9636139 |
Triglycerides:HDL
cholesterol:Differential exon level expression of ZNF614 [probe 3869388] in
brain cortex:Differential exon level expression of ZNF614 [probe 3869388] in
peripheral blood mononuclear cells:HDL cholesterol:Urinary
albumin-to-creatinine ratio:Gene expression of ZNF614 in normal prepouch
ileum:Adiponectin levels:Advanced age-related macular degeneration
(geographic atrophy) |
|
19 |
52869022 |
2 |
ZNF610 |
G |
T |
exonic |
nonsynonymous SNV |
ZNF610:NM_001161427:exon5:c.G262T:p.A88S,ZNF610:NM_001161425:exon6:c.G391T:p.A131S,ZNF610:NM_001161426:exon6:c.G391T:p.A131S,ZNF610:NM_173530:exon6:c.G391T:p.A131S |
RS2241586 |
Triglycerides:Tardive dyskinesia |
|
19 |
53086124 |
2 |
ZNF701 |
C |
A |
exonic |
nonsynonymous SNV |
ZNF701:NM_018260:exon4:c.C812A:p.T271K,ZNF701:NM_001172655:exon5:c.C1010A:p.T337K |
RS373554 |
Differential splicing of ZNF83 in
lymphoblastoid cell lines:HOMA-B:Fasting blood glucose:Body mass index
(BMI):Aortic valve calcium |
|
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 |
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 |
53454670 |
1 |
ZNF816 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF816:NM_001202456:exon4:c.G358A:p.V120I,ZNF816:NM_001202457:exon4:c.G358A:p.V120I,ZNF816:NM_001031665:exon5:c.G358A:p.V120I |
|
19 |
53454710 |
1 |
ZNF816 |
C |
G |
exonic |
nonsynonymous SNV |
ZNF816:NM_001202456:exon4:c.G318C:p.M106I,ZNF816:NM_001202457:exon4:c.G318C:p.M106I,ZNF816:NM_001031665:exon5:c.G318C:p.M106I |
|
19 |
53577419 |
2 |
ZNF160 |
G |
C |
exonic |
nonsynonymous SNV |
ZNF160:NM_001322136:exon4:c.C245G:p.P82R,ZNF160:NM_001322125:exon5:c.C245G:p.P82R,ZNF160:NM_001322129:exon5:c.C245G:p.P82R,ZNF160:NM_001322131:exon5:c.C245G:p.P82R,ZNF160:NM_001322135:exon5:c.C245G:p.P82R,ZNF160:NM_033288:exon5:c.C245G:p.P82R,ZNF160:NM_001102603:exon6:c.C245G:p.P82R,ZNF160:NM_001322126:exon6:c.C245G:p.P82R,ZNF160:NM_001322128:exon6:c.C245G:p.P82R,ZNF160:NM_001322130:exon6:c.C245G:p.P82R,ZNF160:NM_001322132:exon6:c.C245G:p.P82R,ZNF160:NM_001322133:exon6:c.C245G:p.P82R,ZNF160:NM_001322134:exon6:c.C245G:p.P82R,ZNF160:NM_001322138:exon6:c.C137G:p.P46R,ZNF160:NM_198893:exon6:c.C245G:p.P82R,ZNF160:NM_001322137:exon7:c.C137G:p.P46R,ZNF160:NM_001322139:exon8:c.C137G:p.P46R |
RS8105668 |
LDL cholesterol:Gene expression of
VWA3B in peripheral blood monocytes:Allele-specific Expression Patterns in
human glioblastoma cell line U87MG:Gene expression of PRAMEF19 (probeID
ILMN_1762253) in breast tumors |
|
19 |
53761650 |
2 |
VN1R2 |
A |
G |
exonic |
nonsynonymous SNV |
VN1R2:NM_173856:exon1:c.A22G:p.T8A |
|
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 |
54697079 |
2 |
TSEN34 |
C |
T |
exonic |
synonymous SNV |
TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_001282332:exon5:c.C795T:p.P265P,TSEN34:NM_001282333:exon5:c.C804T:p.P268P,TSEN34:NM_024075:exon5:c.C795T:p.P265P |
RS7595 |
Gene expression of IGSF21 in
Temporal cortex:Height change (cm/y) in children |
|
19 |
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 |
55693123 |
1 |
PTPRH |
T |
C |
exonic |
synonymous SNV |
PTPRH:NM_001161440:exon18:c.A2813G:p.X938X,PTPRH:NM_002842:exon20:c.A3347G:p.X1116X |
RS2288420 |
Advanced age-related macular
degeneration:College completion:Advanced age-related macular degeneration
(choroidal neovascularization) vs. no AMD |
|
19 |
55738634 |
2 |
TMEM86B |
T |
C |
exonic |
nonsynonymous SNV |
TMEM86B:NM_173804:exon3:c.A596G:p.H199R |
RS4644955 |
Irritible bowel
syndrome:Longstanding arthritis:HDL cholesterol:Triglycerides change with
statins:Urinary albumin-to-creatinine ratio:Gene expression of TMEM86B in
blood:Primary rhegmatogenous retinal detachment:Birth weight |
|
19 |
55994240 |
2 |
ZNF628 |
C |
T |
exonic |
synonymous SNV |
ZNF628:NM_033113:exon3:c.C1680T:p.H560H |
|
19 |
57089050 |
2 |
ZNF470 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF470:NM_001001668:exon6:c.C1253T:p.T418I |
RS4801177 |
HDL cholesterol:Rheumatoid
arthritis:LDL cholesterol:HDL cholesterol:Obesity with early age of onset
(age >2) |
|
19 |
57672031 |
2 |
DUXA |
T |
C |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A160G:p.T54A |
|
19 |
57672039 |
2 |
DUXA |
T |
G |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A152C:p.E51A |
|
19 |
57672080 |
2 |
DUXA |
C |
T |
exonic |
synonymous SNV |
DUXA:NM_001012729:exon2:c.G111A:p.K37K |
|
19 |
57672087 |
2 |
DUXA |
T |
G |
exonic |
nonsynonymous SNV |
DUXA:NM_001012729:exon2:c.A104C:p.N35T |
|
19 |
57868336 |
2 |
ZNF304 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E |
RS862709 |
Urinary albumin-to-creatinine
ratio:Parkinson's disease |
|
19 |
58152361 |
1 |
ZNF211 |
T |
A |
exonic |
synonymous SNV |
ZNF211:NM_001265600:exon3:c.T324A:p.T108T,ZNF211:NM_198855:exon3:c.T507A:p.T169T,ZNF211:NM_001265598:exon4:c.T663A:p.T221T,ZNF211:NM_006385:exon4:c.T546A:p.T182T,ZNF211:NM_001265597:exon5:c.T702A:p.T234T,ZNF211:NM_001265599:exon5:c.T480A:p.T160T,ZNF211:NM_001322306:exon5:c.T696A:p.T232T |
RS3746219 |
PROP taste detection
threshold:Parkinson's disease:Gene expression of ZNF211 (probeID
ILMN_1811195) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of ZNF211 (probeID ILMN_1811195) in temporal cortex in Alzheimer's
disease cases and controls |
|
19 |
58152795 |
1 |
ZNF211 |
C |
T |
exonic |
nonsynonymous SNV |
ZNF211:NM_001265600:exon3:c.C758T:p.A253V,ZNF211:NM_198855:exon3:c.C941T:p.A314V,ZNF211:NM_001265598:exon4:c.C1097T:p.A366V,ZNF211:NM_006385:exon4:c.C980T:p.A327V,ZNF211:NM_001265597:exon5:c.C1136T:p.A379V,ZNF211:NM_001265599:exon5:c.C914T:p.A305V,ZNF211:NM_001322306:exon5:c.C1130T:p.A377V |
RS11879465 |
Gene expression of ZNF211 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Hip bone mineral density
(BMD):Rheumatoid arthritis:Gene expression of ZNF211 in blood:PROP taste
detection threshold:Gene expression of ZNF211 (probeID ILMN_1811195) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
VN1R1 in normal prepouch ileum:Parkinson's disease:Gene expression of ZNF211
(probeID ILMN_1811195) in cerebellum in Alzheimer's disease cases and
controls |
|
19 |
58152817 |
1 |
ZNF211 |
G |
C |
exonic |
synonymous SNV |
ZNF211:NM_001265600:exon3:c.G780C:p.S260S,ZNF211:NM_198855:exon3:c.G963C:p.S321S,ZNF211:NM_001265598:exon4:c.G1119C:p.S373S,ZNF211:NM_006385:exon4:c.G1002C:p.S334S,ZNF211:NM_001265597:exon5:c.G1158C:p.S386S,ZNF211:NM_001265599:exon5:c.G936C:p.S312S,ZNF211:NM_001322306:exon5:c.G1152C:p.S384S |
RS11880050 |
Gene expression of ZNF211 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Rheumatoid arthritis:PROP taste
detection threshold:Gene expression of ZNF211 (probeID ILMN_1811195) in
cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene
expression of ZNF211 (probeID ILMN_1811195) in temporal cortex in Alzheimer's
disease cases and controls |
|
19 |
58153000 |
1 |
ZNF211 |
T |
C |
exonic |
synonymous SNV |
ZNF211:NM_001265600:exon3:c.T963C:p.F321F,ZNF211:NM_198855:exon3:c.T1146C:p.F382F,ZNF211:NM_001265598:exon4:c.T1302C:p.F434F,ZNF211:NM_006385:exon4:c.T1185C:p.F395F,ZNF211:NM_001265597:exon5:c.T1341C:p.F447F,ZNF211:NM_001265599:exon5:c.T1119C:p.F373F,ZNF211:NM_001322306:exon5:c.T1335C:p.F445F |
RS3746218 |
Gene expression of ZNF211 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Rheumatoid arthritis:PROP taste
detection threshold:Gene expression of ZNF211 (probeID ILMN_1811195) in
cerebellum in Alzheimer's disease cases and controls:Gene expression of VN1R1
in normal prepouch ileum:Parkinson's disease:Gene expression of ZNF211
(probeID ILMN_1811195) in temporal cortex in Alzheimer's disease cases and
controls |
|
19 |
58153009 |
1 |
ZNF211 |
C |
T |
exonic |
synonymous SNV |
ZNF211:NM_001265600:exon3:c.C972T:p.I324I,ZNF211:NM_198855:exon3:c.C1155T:p.I385I,ZNF211:NM_001265598:exon4:c.C1311T:p.I437I,ZNF211:NM_006385:exon4:c.C1194T:p.I398I,ZNF211:NM_001265597:exon5:c.C1350T:p.I450I,ZNF211:NM_001265599:exon5:c.C1128T:p.I376I,ZNF211:NM_001322306:exon5:c.C1344T:p.I448I |
RS3746217 |
Gene expression of ZNF211 in
CEU-CHB-JPT-YRI lymphoblastoid cell lines:Rheumatoid arthritis:PROP taste
detection threshold:Parkinson's disease:Gene expression of VN1R1 in normal
prepouch ileum:Gene expression of ZNF211 (probeID ILMN_1811195) in cerebellum
in Alzheimer's disease cases and controls:Gene expression of ZNF211 (probeID
ILMN_1811195) in temporal cortex in Alzheimer's disease cases and controls |
|
19 |
58287931 |
1 |
ZNF586 |
T |
C |
exonic |
synonymous SNV |
ZNF586:NM_017652:exon2:c.T57C:p.D19D |
|
19 |
58287983 |
1 |
ZNF586 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF586:NM_017652:exon2:c.A109G:p.R37G |
|
19 |
58319697 |
1 |
ZNF552 |
A |
G |
exonic |
nonsynonymous SNV |
ZNF552:NM_024762:exon3:c.T935C:p.I312T |
|
19 |
58319706 |
1 |
ZNF552 |
T |
C |
exonic |
nonsynonymous SNV |
ZNF552:NM_024762:exon3:c.A926G:p.Y309C |
|
19 |
58355689 |
1 |
ZNF587B |
A |
G |
exonic |
nonsynonymous SNV |
ZNF587B:NM_001204818:exon4:c.A1188G:p.I396M |
|
19 |
58384779 |
1 |
ZNF814 |
A |
T |
exonic |
nonsynonymous SNV |
ZNF814:NM_001144989:exon3:c.T1979A:p.F660Y |
|
19 |
58455381 |
2 |
ZNF256 |
C |
T |
exonic |
synonymous SNV |
ZNF256:NM_005773:exon2:c.G81A:p.E27E |
|
19 |
58806083 |
1 |
ZNF8 |
T |
C |
exonic |
synonymous SNV |
ZNF8:NM_021089:exon4:c.T909C:p.H303H |
RS260471 |
HOMA-B:Fasting insulin:Chronic
kidney disease:Gene expression of ZNF274 [transcript NM_016325, probe
A_23_P153251] in liver:Gene expression of ZNF8 in normal prepouch ileum |
|
19 |
58982384 |
2 |
ZNF324 |
A |
G |
exonic |
synonymous SNV |
ZNF324:NM_014347:exon4:c.A525G:p.R175R |
|
19 |
59061357 |
1 |
TRIM28 |
C |
T |
exonic |
synonymous SNV |
TRIM28:NM_005762:exon15:c.C2148T:p.P716P |
RS3816328 |
Triglycerides:Microalbuminuria:Urinary
albumin-to-creatinine ratio |
|
19 |
59073613 |
1 |
MZF1 |
A |
G |
exonic |
synonymous SNV |
MZF1:NM_003422:exon6:c.T2031C:p.G677G,MZF1:NM_198055:exon6:c.T2031C:p.G677G |
|
19 |
59074429 |
1 |
MZF1 |
C |
T |
exonic |
synonymous SNV |
MZF1:NM_003422:exon6:c.G1215A:p.T405T,MZF1:NM_198055:exon6:c.G1215A:p.T405T |
|
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 |
69510335 |
2 |
|
19 |
71401607 |
2 |
|
19 |
148681299 |
2 |
|
20 |
278515 |
2 |
ZCCHC3 |
T |
C |
exonic |
synonymous SNV |
ZCCHC3:NM_033089:exon1:c.T288C:p.D96D |
|
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 |
1426393 |
1 |
NSFL1C |
C |
T |
exonic |
nonsynonymous SNV |
NSFL1C:NM_018839:exon7:c.G775A:p.D259N,NSFL1C:NM_016143:exon8:c.G868A:p.D290N |
RS9575 |
Barnes Akathisia Rating
Scale:HOMA-IR:Gene expression of NSFL1C in Temporal cortex:Gene expression of
NSFL1C in Cerebellum:Gene expression of NSFL1C in Caudal pons:Gene expression
of NSFL1C in Frontal cortex:Body mass index (BMI):Gene expression of NSFL1C
[transcript NM_182483, probe A_23_P210719] in liver:Gene expression of NSFL1C
(probeID ILMN_2366719) in cerebellum in Alzheimer's disease cases and
controls:Gene expression of NSFL1C (probeID ILMN_2366719) in temporal cortex
in Alzheimer's disease cases and controls:Gene expression of NSFL1C (probeID
ILMN_1657624) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of NSFL1C (probeID ILMN_1657624) in temporal cortex in Alzheimer's
disease cases and controls |
|
20 |
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 |
3214819 |
2 |
SLC4A11 |
T |
G |
exonic |
synonymous SNV |
SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R |
RS3827075 |
Rheumatoid arthritis:HDL
cholesterol change with statins:Methylation levels at chr20:3166095-3166145
[hg18 coord, probe cg08284598] in Cerebellum:Gene expression of C20orf116 in
blood:Gene expression of UBOX5 in blood:Cognitive response to topiramate treatment
as measured by the Animals cognitive test:Bipolar disorder |
|
20 |
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 |
5933108 |
1 |
MCM8 |
C |
A |
exonic |
nonsynonymous SNV |
MCM8:NM_001281520:exon3:c.C187A:p.Q63K,MCM8:NM_001281521:exon3:c.C187A:p.Q63K,MCM8:NM_001281522:exon3:c.C187A:p.Q63K,MCM8:NM_032485:exon3:c.C187A:p.Q63K,MCM8:NM_182802:exon3:c.C187A:p.Q63K |
RS236110 |
Spine bone mineral density (BMD):2
hour glucose:HDL cholesterol change with statins:Neuroblastoma (brain
cancer):Late onset Alzheimer's disease:Gene expression of CRLS1 in
blood:Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Age at
death with kuru exposure |
|
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 |
10620386 |
2 |
JAG1 |
A |
G |
exonic |
synonymous SNV |
JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y |
RS1051419 |
Lumbar spine bone mineral density
(BMD):Cystatin C in serum:Serum creatinine:Diastolic blood pressure
(DBP):Infant head circumference |
|
20 |
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 |
13053018 |
2 |
SPTLC3 |
T |
G |
exonic |
nonsynonymous SNV |
SPTLC3:NM_018327:exon3:c.T418G:p.L140V,SPTLC3:NM_001349945:exon4:c.T418G:p.L140V |
RS243887 |
Obesity with early age of onset
(age >2):Hypertension (early onset hypertension):Maternal transmission
distortion |
|
20 |
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 |
17605240 |
2 |
RRBP1 |
A |
T |
exonic |
nonsynonymous SNV |
RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H |
|
20 |
18143117 |
2 |
KAT14 |
T |
G |
exonic |
nonsynonymous SNV |
KAT14:NM_020536:exon6:c.T1199G:p.V400G |
|
20 |
18167977 |
2 |
KAT14 |
T |
C |
exonic |
synonymous SNV |
KAT14:NM_020536:exon10:c.T2223C:p.P741P |
|
20 |
18296072 |
2 |
ZNF133 |
T |
A |
exonic |
nonsynonymous SNV |
ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T |
|
20 |
18462421 |
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 |
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 |
23345069 |
1 |
GZF1 |
C |
T |
exonic |
synonymous SNV |
GZF1:NM_001317019:exon1:c.C49T:p.L17L,GZF1:NM_022482:exon2:c.C49T:p.L17L,GZF1:NM_001317012:exon3:c.C49T:p.L17L |
RS6076060 |
Tardive dyskinesia:Childhood acute
lymphoblastic leukemia |
|
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 |
25193949 |
1 |
ENTPD6 |
G |
A |
exonic |
synonymous SNV |
ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001322386:exon4:c.G453A:p.P151P,ENTPD6:NM_001322389:exon4:c.G495A:p.P165P,ENTPD6:NM_001322392:exon4:c.G450A:p.P150P,ENTPD6:NM_001322393:exon4:c.G453A:p.P151P,ENTPD6:NM_001322394:exon4:c.G450A:p.P150P,ENTPD6:NM_001322395:exon4:c.G495A:p.P165P,ENTPD6:NM_001322398:exon4:c.G495A:p.P165P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P,ENTPD6:NM_001317941:exon5:c.G501A:p.P167P,ENTPD6:NM_001322378:exon5:c.G504A:p.P168P,ENTPD6:NM_001322388:exon5:c.G504A:p.P168P,ENTPD6:NM_001322391:exon5:c.G504A:p.P168P,ENTPD6:NM_001322396:exon5:c.G501A:p.P167P,ENTPD6:NM_001322397:exon5:c.G504A:p.P168P,ENTPD6:NM_001322390:exon6:c.G504A:p.P168P |
RS2076561 |
HOMA-B:Gene expression of C20orf22
in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL
cholesterol:Height:Systolic blood pressure (SBP):Gene expression of ABHD12
(probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and
controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in
Alzheimer's disease cases and controls |
|
20 |
25195509 |
2 |
ENTPD6 |
A |
G |
exonic |
nonsynonymous SNV |
ENTPD6:NM_001322385:exon4:c.A409G:p.K137E,ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001322386:exon5:c.A553G:p.K185E,ENTPD6:NM_001322387:exon5:c.A460G:p.K154E,ENTPD6:NM_001322389:exon5:c.A595G:p.K199E,ENTPD6:NM_001322392:exon5:c.A550G:p.K184E,ENTPD6:NM_001322393:exon5:c.A553G:p.K185E,ENTPD6:NM_001322394:exon5:c.A550G:p.K184E,ENTPD6:NM_001322395:exon5:c.A595G:p.K199E,ENTPD6:NM_001322398:exon5:c.A595G:p.K199E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E,ENTPD6:NM_001317941:exon6:c.A601G:p.K201E,ENTPD6:NM_001322378:exon6:c.A604G:p.K202E,ENTPD6:NM_001322388:exon6:c.A604G:p.K202E,ENTPD6:NM_001322391:exon6:c.A604G:p.K202E,ENTPD6:NM_001322396:exon6:c.A601G:p.K201E,ENTPD6:NM_001322397:exon6:c.A604G:p.K202E,ENTPD6:NM_001322390:exon7:c.A604G:p.K202E |
RS6050446 |
HOMA-B:LDL cholesterol change with
statins:Waist hip ratio:Body mass index (BMI) |
|
20 |
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 |
31427635 |
1 |
MAPRE1 |
C |
T |
exonic |
synonymous SNV |
MAPRE1:NM_012325:exon5:c.C570T:p.D190D |
RS2070090 |
Risperidone response in
schizophrenia treatment:Abnormal Involuntary Movement Scale:Tardive
dyskinesia:Rheumatoid arthritis:Height:Systolic blood pressure (SBP):Advanced
age-related macular degeneration (choroidal neovascularization) vs. no
AMD:Parkinson's disease |
|
20 |
32212690 |
2 |
CBFA2T2 |
C |
T |
exonic |
synonymous SNV |
CBFA2T2:NM_001032999:exon6:c.C813T:p.P271P,CBFA2T2:NM_001039709:exon6:c.C753T:p.P251P,CBFA2T2:NM_005093:exon7:c.C840T:p.P280P |
RS3803939 |
HDL cholesterol:Triglycerides
change with statins:Asthma:Height:Late onset Alzheimer's disease:Gene
expression of C20orf134///APBA2BP in blood:PROP taste detection
threshold:Primary rhegmatogenous retinal detachment:Birth weight:Gene
expression of PXMP4 in normal prepouch ileum |
|
20 |
32248163 |
2 |
NECAB3 |
C |
T |
exonic |
synonymous SNV |
NECAB3:NM_031231:exon6:c.G426A:p.T142T,NECAB3:NM_031232:exon6:c.G426A:p.T142T |
RS3746460 |
Serum creatinine:Chronic kidney
disease:Height:Birth weight:Gene expression of PXMP4 in normal prepouch ileum |
|
20 |
32295541 |
2 |
PXMP4 |
C |
T |
exonic |
nonsynonymous SNV |
PXMP4:NM_007238:exon4:c.G610A:p.V204I |
RS910397 |
HDL
cholesterol:Endometriosis:Asthma:Height:Endometriosis:Late onset Alzheimer's
disease:Gene expression of PXMP4 in blood:Gene expression of
C20orf134///APBA2BP in blood:Comorbid depressive syndrome and alcohol
dependence:Primary rhegmatogenous retinal detachment:Endometriosis:Gene
expression of PXMP4 in normal prepouch ileum |
|
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 |
33470694 |
2 |
ACSS2 |
C |
T |
exonic |
synonymous SNV |
ACSS2:NM_001076552:exon2:c.C276T:p.F92F,ACSS2:NM_018677:exon2:c.C276T:p.F92F |
RS4911163 |
Gene expression of ACAS2 in
CEU-CHB-JPT lymphoblastoid cell lines:Hip bone mineral density (BMD):Gene
expression of TRPC4AP in blood cells in Celiac disease:Gene expression of
TRPC4AP [probe ILMN_20082] in osteoblasts:Serum creatinine:Rheumatoid
arthritis:Gene expression of TRPC4AP in Frontal cortex:Gene expression of
TRPC4AP in Temporal cortex:Gene expression of TRPC4AP in Caudal pons:Total
cholesterol:HDL cholesterol:Gene expression of ACSS2 in CD4+
lymphocytes:Height:Gene expression of GGTL3 in blood:Gene expression of
MYH7B///TRPC4AP in blood:Gene expression of ACSS2///GSS in blood:Gene
expression of TRPC4AP in liver:Hypertension (early onset hypertension):Years
of education:Gene expression of ACSS2 (probeID ILMN_1714197) in cerebellum in
Alzheimer's disease cases and controls:Gene expression of ACSS2 (probeID
ILMN_1714197) in temporal cortex in Alzheimer's disease cases and controls |
|
20 |
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 |
42089511 |
2 |
SRSF6 |
T |
C |
exonic |
synonymous SNV |
SRSF6:NM_006275:exon6:c.T843C:p.P281P |
RS2235611 |
Urinary albumin-to-creatinine
ratio:Microalbuminuria:Coronary artery disease (CAD):Allele-specific
Expression Patterns in human glioblastoma cell line U87MG |
|
20 |
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 |
43252915 |
1 |
ADA |
T |
C |
exonic |
synonymous SNV |
ADA:NM_001322050:exon5:c.A129G:p.V43V,ADA:NM_000022:exon6:c.A534G:p.V178V,ADA:NM_001322051:exon6:c.A534G:p.V178V |
RS244076 |
Waist hip ratio:DBNDD2 & SYS1-DBNDD2 (Transcript:NM_018478 ) gene
expression in normal tissue |
|
20 |
43530234 |
1 |
YWHAB |
A |
C |
exonic |
synonymous SNV |
YWHAB:NM_139323:exon2:c.A60C:p.R20R,YWHAB:NM_003404:exon3:c.A60C:p.R20R |
|
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 |
44470676 |
1 |
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 |
44505973 |
1 |
ZSWIM3 |
T |
C |
exonic |
nonsynonymous SNV |
ZSWIM3:NM_080752:exon2:c.T776C:p.V259A |
RS2903808 |
Gene expression of ZSWIM1 [probe
217592_at] in lymphoblastoid cell lines:Differential exon level expression of
SNX21 [probe 3887087] in brain cortex:2 hour glucose:Methylation levels at
chr20:43889508-43889558 [hg18 coord, probe cg08201421] in Cerebellum:HDL
cholesterol:Triglycerides:Gene expression of CTSA///PLTP in blood:Gene
expression of TNNC2 in blood:Gene expression of WFDC3 in blood:Gene
expression of DNTTIP1 in blood:Gene expression of TNNC2 (probeID
ILMN_1693428) in cerebellum in Alzheimer's disease cases and controls:Gene
expression of TNNC2 (probeID ILMN_1693428) in cerebellum in Alzheimer's
disease cases:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum
in non-Alzheimer's disease samples:Gene expression of TNNC2 (probeID ILMN_1693428)
in cerebellum in Progressive Supranuclear Palsy cases:Infant head
circumference |
|
20 |
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 |
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 |
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 |
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 |
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 |
60895697 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon50:c.G6677A:p.R2226H |
RS2297587 |
Rheumatoid arthritis:Triglycerides
change with statins:Serum creatinine:Gene expression of RPS21
(ENSG00000171858) in dendritic cells:Obesity with early age of onset (age
>2):Gene expression change of CABLES2 (ENSG00000149679) in dendritic cells
after treatment with Mycobacterium tuberculosis |
|
20 |
60897487 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon47:c.G6184A:p.D2062N |
RS2274934 |
Serum creatinine |
|
20 |
60897772 |
1 |
LAMA5 |
T |
C |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon46:c.A6107G:p.H2036R |
|
20 |
60899182 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon43:c.G5722A:p.A1908T |
RS11698080 |
Triglycerides change with
statins:Serum creatinine:Obesity with early age of onset (age >2) |
|
20 |
60899206 |
1 |
LAMA5 |
C |
T |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon43:c.G5698A:p.V1900M |
RS2427283 |
Serum creatinine |
|
20 |
60900481 |
2 |
LAMA5 |
A |
G |
exonic |
nonsynonymous SNV |
LAMA5:NM_005560:exon41:c.T5420C:p.F1807S |
|
20 |
60900579 |
2 |
LAMA5 |
C |
A |
exonic |
synonymous SNV |
LAMA5:NM_005560:exon41:c.G5322T:p.T1774T |
|
20 |
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 |
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 |
62191321 |
1 |
HELZ2 |
A |
G |
exonic |
synonymous SNV |
HELZ2:NM_033405:exon13:c.T6078C:p.N2026N,HELZ2:NM_001037335:exon19:c.T7785C:p.N2595N |
RS3810477 |
LDL cholesterol:Gene expression of
STMN3 (ENSG00000197457) in dendritic cells treated with Mycobacterium
tuberculosis |
|
20 |
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 |
62194128 |
1 |
HELZ2 |
G |
A |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.C4340T:p.P1447L,HELZ2:NM_001037335:exon9:c.C6047T:p.P2016L |
|
20 |
62196807 |
2 |
HELZ2 |
T |
C |
exonic |
nonsynonymous SNV |
HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R |
|
20 |
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 |
62326110 |
1 |
RTEL1 |
A |
C |
exonic |
nonsynonymous SNV |
RTEL1:NM_001283010:exon31:c.A2457C:p.Q819H,RTEL1:NM_001283009:exon32:c.A3126C:p.Q1042H,RTEL1:NM_016434:exon32:c.A3126C:p.Q1042H,RTEL1:NM_032957:exon32:c.A3198C:p.Q1066H |
RS3208008 |
LDL cholesterol:Total
cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene
expression of TNFRSF6B [transcript NM_032945, probe A_23_P218646] in liver |
|
20 |
62328375 |
2 |
TNFRSF6B |
A |
G |
exonic |
synonymous SNV |
TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L |
|
20 |
62328742 |
1 |
TNFRSF6B |
C |
T |
exonic |
synonymous SNV |
TNFRSF6B:NM_003823:exon2:c.C486T:p.S162S |
|
20 |
62328829 |
1 |
TNFRSF6B |
C |
G |
exonic |
synonymous SNV |
TNFRSF6B:NM_003823:exon2:c.C573G:p.T191T |
|
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 |
30250555 |
2 |
N6AMT1 |
T |
C |
exonic |
nonsynonymous SNV |
N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R |
|
21 |
30250615 |
2 |
N6AMT1 |
T |
C |
exonic |
nonsynonymous SNV |
N6AMT1:NM_182749:exon4:c.A353G:p.K118R,N6AMT1:NM_013240:exon5:c.A437G:p.K146R |
|
21 |
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 |
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 |
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 |
34923319 |
1 |
SON |
A |
G |
exonic |
synonymous SNV |
SON:NM_001291411:exon3:c.A1782G:p.L594L,SON:NM_032195:exon3:c.A1782G:p.L594L,SON:NM_138927:exon3:c.A1782G:p.L594L |
|
21 |
34925142 |
2 |
SON |
C |
T |
exonic |
nonsynonymous SNV |
SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L |
|
21 |
35281393 |
2 |
ATP5O |
A |
G |
exonic |
synonymous SNV |
ATP5O:NM_001697:exon4:c.T321C:p.N107N |
RS4591 |
Comorbid depressive syndrome and
alcohol dependence:Gene expression of ATP5O in normal prepouch ileum |
|
21 |
35467645 |
2 |
SLC5A3 |
A |
G |
exonic |
nonsynonymous SNV |
SLC5A3:NM_006933:exon2:c.A148G:p.T50A |
|
21 |
35469193 |
2 |
SLC5A3 |
C |
A |
exonic |
nonsynonymous SNV |
SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K |
|
21 |
37617630 |
2 |
DOPEY2 |
T |
G |
exonic |
nonsynonymous SNV |
DOPEY2:NM_001320714:exon19:c.T3352G:p.C1118G,DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G |
RS4817788 |
Serum creatinine:Partial
epilepsy:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Advanced
age-related macular degeneration (geographic atrophy) |
|
21 |
38444863 |
2 |
PIGP |
C |
T |
exonic |
nonsynonymous SNV |
PIGP:NM_153681:exon1:c.G25A:p.A9T |
|
21 |
43161357 |
2 |
RIPK4 |
T |
C |
exonic |
nonsynonymous SNV |
RIPK4:NM_020639:exon8:c.A1996G:p.M666V |
RS3746891 |
Triglycerides |
|
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 |
43413731 |
2 |
ZBTB21 |
C |
T |
exonic |
synonymous SNV |
ZBTB21:NM_001320729:exon2:c.G474A:p.A158A,ZBTB21:NM_020727:exon2:c.G474A:p.A158A,ZBTB21:NM_001098402:exon3:c.G474A:p.A158A,ZBTB21:NM_001098403:exon3:c.G474A:p.A158A,ZBTB21:NM_001320731:exon4:c.G474A:p.A158A |
RS915837 |
2 hour glucose:Partial
epilepsy:Autism:Variant Creutzfeldt-Jakob disease:Paternal transmission
distortion:Transmission distortion |
|
21 |
45544594 |
2 |
PWP2 |
T |
C |
exonic |
synonymous SNV |
PWP2:NM_005049:exon15:c.T1951C:p.L651L |
RS2187313 |
Gene expression of PWP2 [probe
209336_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Total
cholesterol change with statins |
|
21 |
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 |
|
21 |
48063476 |
2 |
PRMT2 |
C |
G |
exonic |
synonymous SNV |
PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001286676:exon3:c.C69G:p.A23A,PRMT2:NM_001286677:exon3:c.C69G:p.A23A,PRMT2:NM_001286678:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A |
|
22 |
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 |
18900750 |
2 |
PRODH |
G |
A |
exonic |
synonymous SNV |
PRODH:NM_001195226:exon14:c.C1417T:p.L473L,PRODH:NM_016335:exon15:c.C1741T:p.L581L |
|
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 |
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 |
23627369 |
1 |
BCR |
A |
G |
exonic |
nonsynonymous SNV |
BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S |
RS140504 |
Delayed Story Recall:LDL
cholesterol:Gene expression of RAB36 in blood:Aortic valve
calcium:Adiponectin levels:Salmonella-induced pyroptosis |
|
22 |
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 |
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 |
24837301 |
2 |
ADORA2A |
T |
C |
exonic |
synonymous SNV |
ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278498:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278499:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278500:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278497:exon4:c.T1083C:p.Y361Y |
|
22 |
24964128 |
1 |
SNRPD3 |
T |
C |
exonic |
synonymous SNV |
SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A |
|
22 |
25425439 |
1 |
KIAA1671 |
A |
C |
exonic |
synonymous SNV |
KIAA1671:NM_001145206:exon1:c.A1473C:p.S491S |
|
22 |
26853905 |
2 |
HPS4 |
C |
A |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_001349896:exon13:c.G1875T:p.Q625H,HPS4:NM_001349899:exon13:c.G1875T:p.Q625H,HPS4:NM_001349904:exon13:c.G1875T:p.Q625H,HPS4:NM_001349905:exon13:c.G1875T:p.Q625H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H,HPS4:NM_001349898:exon14:c.G1875T:p.Q625H,HPS4:NM_001349900:exon14:c.G1929T:p.Q643H,HPS4:NM_001349901:exon14:c.G1929T:p.Q643H |
RS1894704 |
Schizophrenia:Total
cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru
exposure:Advanced age-related macular degeneration (geographic atrophy) |
|
22 |
26854441 |
2 |
HPS4 |
G |
A |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_001349896:exon12:c.C1816T:p.H606Y,HPS4:NM_001349899:exon12:c.C1816T:p.H606Y,HPS4:NM_001349904:exon12:c.C1816T:p.H606Y,HPS4:NM_001349905:exon12:c.C1816T:p.H606Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y,HPS4:NM_001349898:exon13:c.C1816T:p.H606Y,HPS4:NM_001349900:exon13:c.C1870T:p.H624Y,HPS4:NM_001349901:exon13:c.C1870T:p.H624Y |
RS1894706 |
Schizophrenia:Total
cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru
exposure:Advanced age-related macular degeneration (geographic atrophy) |
|
22 |
26859942 |
2 |
HPS4 |
C |
T |
exonic |
nonsynonymous SNV |
HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_001349896:exon11:c.G1654A:p.V552M,HPS4:NM_001349899:exon11:c.G1654A:p.V552M,HPS4:NM_001349902:exon11:c.G1654A:p.V552M,HPS4:NM_001349903:exon11:c.G1654A:p.V552M,HPS4:NM_001349904:exon11:c.G1654A:p.V552M,HPS4:NM_001349905:exon11:c.G1654A:p.V552M,HPS4:NM_022081:exon11:c.G1654A:p.V552M,HPS4:NM_001349898:exon12:c.G1654A:p.V552M,HPS4:NM_001349900:exon12:c.G1708A:p.V570M,HPS4:NM_001349901:exon12:c.G1708A:p.V570M |
RS5752330 |
Gene expression of
CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and alcohol
dependence:Sporadic Creutzfeldt-Jakob disease |
|
22 |
26884039 |
2 |
SRRD |
G |
A |
exonic |
nonsynonymous SNV |
SRRD:NM_001013694:exon3:c.G295A:p.A99T |
RS4820682 |
Stabilized warfarin dose:Gene
expression of CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and
alcohol dependence:Sporadic Creutzfeldt-Jakob disease |
|
22 |
26895337 |
2 |
TFIP11 |
G |
A |
exonic |
synonymous SNV |
TFIP11:NM_001346862:exon7:c.C969T:p.H323H,TFIP11:NM_001346859:exon9:c.C1062T:p.H354H,TFIP11:NM_001346861:exon9:c.C1062T:p.H354H,TFIP11:NM_012143:exon9:c.C1062T:p.H354H,TFIP11:NM_001008697:exon10:c.C1062T:p.H354H,TFIP11:NM_001346857:exon10:c.C1062T:p.H354H,TFIP11:NM_001346858:exon10:c.C1062T:p.H354H |
RS1008530 |
Neuroticism:Gene expression of
ASPHD2 in peripheral blood monocytes:Comorbid depressive syndrome and alcohol
dependence |
|
22 |
29279991 |
2 |
ZNRF3 |
C |
T |
exonic |
synonymous SNV |
ZNRF3:NM_001206998:exon1:c.C237T:p.T79T |
|
22 |
29446611 |
2 |
ZNRF3 |
A |
C |
exonic |
synonymous SNV |
ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P,ZNRF3:NM_032173:exon8:c.A2142C:p.P714P |
|
22 |
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 |
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 |
31302233 |
1 |
OSBP2 |
T |
C |
exonic |
synonymous SNV |
OSBP2:NM_001282742:exon12:c.T1290C:p.D430D,OSBP2:NM_001282740:exon13:c.T1557C:p.D519D,OSBP2:NM_001282741:exon13:c.T1887C:p.D629D,OSBP2:NM_001282739:exon14:c.T2655C:p.D885D,OSBP2:NM_030758:exon14:c.T2658C:p.D886D,OSBP2:NM_001282738:exon15:c.T2160C:p.D720D |
RS3804085 |
Gene expression of TUG1 [probe
222244_s_at] in lymphoblastoid cell lines:Waist hip ratio:College
completion:Gene expression of MORC2 in normal prepouch ileum:Years of
education |
|
22 |
31333631 |
1 |
MORC2 |
T |
C |
exonic |
synonymous SNV |
MORC2:NM_001303256:exon15:c.A1437G:p.P479P,MORC2:NM_001303257:exon15:c.A1437G:p.P479P,MORC2:NM_014941:exon16:c.A1251G:p.P417P |
RS3747151 |
Gene expression of TUG1 [probe
222244_s_at] in lymphoblastoid cell lines:Aortic valve calcium |
|
22 |
31342376 |
1 |
MORC2 |
G |
C |
exonic |
synonymous SNV |
MORC2:NM_001303256:exon6:c.C378G:p.T126T,MORC2:NM_001303257:exon6:c.C378G:p.T126T,MORC2:NM_014941:exon7:c.C192G:p.T64T |
RS2072132 |
Waist hip ratio:Years of
education:Aortic valve calcium |
|
22 |
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 |
33253280 |
2 |
TIMP3 |
T |
C |
exonic |
synonymous SNV |
TIMP3:NM_000362:exon3:c.T249C:p.H83H |
RS9862 |
Triglycerides:Partial epilepsy |
|
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 |
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 |
37578579 |
1 |
C1QTNF6 |
C |
T |
exonic |
synonymous SNV |
C1QTNF6:NM_031910:exon3:c.G486A:p.T162T,C1QTNF6:NM_182486:exon3:c.G486A:p.T162T |
RS229519 |
Gene expression of C1QTNF6 (probeID
ILMN_1729288) in temporal cortex in Alzheimer's disease cases:Gene expression
of C1QTNF6 (probeID ILMN_2361181) in temporal cortex in Alzheimer's disease
cases and controls:Gene expression of C1QTNF6 (probeID ILMN_1689102) in
temporal cortex in Alzheimer's disease cases and controls:Gene expression of
C1QTNF6 (probeID ILMN_2361181) in cerebellum in Alzheimer's disease cases and
controls:College completion:Gene expression of C1QTNF6 (probeID ILMN_1729288)
in temporal cortex in Alzheimer's disease cases and controls |
|
22 |
38204089 |
1 |
GCAT |
C |
T |
exonic |
nonsynonymous SNV |
GCAT:NM_001171690:exon1:c.C115T:p.R39C,GCAT:NM_014291:exon1:c.C115T:p.R39C |
RS710187 |
Total cholesterol change with
statins:Total cholesterol:LDL cholesterol:Height:Parkinson's disease |
|
22 |
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 |
39134715 |
1 |
SUN2 |
T |
C |
exonic |
synonymous SNV |
SUN2:NM_001199579:exon16:c.A1887G:p.Q629Q,SUN2:NM_015374:exon16:c.A1824G:p.Q608Q,SUN2:NM_001199580:exon17:c.A1824G:p.Q608Q |
|
22 |
39178701 |
2 |
DNAL4 |
A |
G |
exonic |
synonymous SNV |
DNAL4:NM_005740:exon2:c.T36C:p.D12D |
RS760482 |
LDL cholesterol:Rheumatoid
arthritis:Gene expression of CBX6 in peripheral blood monocytes |
|
22 |
39222652 |
2 |
NPTXR |
G |
A |
exonic |
synonymous SNV |
NPTXR:NM_014293:exon3:c.C951T:p.Y317Y |
RS5757299 |
Rheumatoid arthritis:Gene
expression of CBX6 in peripheral blood monocytes:Total cholesterol |
|
22 |
41903813 |
1 |
ACO2 |
A |
C |
exonic |
synonymous SNV |
ACO2:NM_001098:exon3:c.A192C:p.T64T |
RS137831 |
Alzheimer's disease:Cystatin C in
serum:Serum creatinine:Height:Microalbuminuria:Sporadic Creutzfeldt-Jakob
disease:Allele-specific Expression Patterns in human glioblastoma cell line
U87MG:Birth weight |
|
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 |
44368122 |
1 |
SAMM50 |
A |
G |
exonic |
nonsynonymous SNV |
SAMM50:NM_015380:exon5:c.A329G:p.D110G |
RS3761472 |
HDL
cholesterol:Triglycerides:Nicotine dependence (smoking), smoking
cessation:Autism:HDL cholesterol:Total cholesterol:Gene expression of ADPN
[probe ILMN_8093] in osteoblasts with treatment interaction:Alanine
aminotransferase (ALT) in plasma:Bipolar disorder:Non-alcoholic fatty liver
disease:Triglycerides in Nonalcoholic fatty liver disease:Ferritin in
Nonalcoholic fatty liver disease:Hepatocyte ballooning in Nonalcoholic fatty
liver disease:Alanine aminotransferase (ALT):Hypertension (early onset hypertension):Non-alcoholic
fatty liver disease:Lobular inflammation in Nonalcoholic fatty liver
disease:Non-alcoholic fatty liver disease (Matteoni
classification):Non-alcoholic fatty liver disease activity score:Aspartate
aminotransferase (AST):Fatty liver:Alanine aminotransferase (ALT) in
Nonalcoholic fatty liver disease:Aspartate aminotransferase (AST) in
Nonalcoholic fatty liver disease:Hyaluronic acid in Nonalcoholic fatty liver
disease:Steatosis grade in Nonalcoholic fatty liver disease |
|
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 |
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 |
47058992 |
2 |
GRAMD4 |
T |
C |
exonic |
synonymous SNV |
GRAMD4:NM_015124:exon6:c.T522C:p.F174F |
|
22 |
47085924 |
1 |
CERK |
G |
A |
exonic |
synonymous SNV |
CERK:NM_022766:exon12:c.C1506T:p.D502D |
|
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 |
50354819 |
1 |
PIM3 |
C |
A |
exonic |
synonymous SNV |
PIM3:NM_001001852:exon2:c.C132A:p.A44A |
|
22 |
50657010 |
2 |
TUBGCP6 |
C |
G |
exonic |
nonsynonymous SNV |
TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L |
|
22 |
50688348 |
2 |
HDAC10 |
A |
G |
exonic |
synonymous SNV |
HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C |
RS1555048 |
LDL cholesterol:2 hour
glucose:Cystatin C in serum:Rheumatoid arthritis:Gene expression of HDAC10 in
peripheral blood monocytes |
|
22 |
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 |
50722134 |
2 |
PLXNB2 |
T |
C |
exonic |
nonsynonymous SNV |
PLXNB2:NM_012401:exon15:c.A2467G:p.I823V |
|
22 |
50941985 |
2 |
LMF2 |
T |
C |
exonic |
synonymous SNV |
LMF2:NM_033200:exon14:c.A1959G:p.Q653Q |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|