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