Chr Loc Genotype Gene Ref Alt Type Class Protein RS Phenotype
1 881627 2 NOC2L G A exonic synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L
1 887801 2 NOC2L A G exonic synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T
1 888639 2 NOC2L T C exonic synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E
1 897325 2 KLHL17 G C exonic synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A
1 935222 2 HES4 C A exonic nonsynonymous SNV HES4:NM_001142467:exon1:c.G132T:p.R44S
1 949654 2 ISG15 A G exonic synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V
1 981931 2 AGRN A G exonic synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S
1 982994 2 AGRN T C exonic synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F
1 984302 2 AGRN T C exonic synonymous SNV AGRN:NM_198576:exon24:c.T4161C:p.T1387T
1 990280 2 AGRN C T exonic synonymous SNV AGRN:NM_198576:exon36:c.C6057T:p.D2019D
1 1158631 2 SDF4 A G exonic synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D RS6603781 Simpson-Angus Scale:Serum creatinine:Urinary albumin-to-creatinine ratio:PROP taste detection threshold
1 1254841 2 INTS11 C G exonic synonymous SNV INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G RS10907179 Comorbid depressive syndrome and alcohol dependence
1 1262966 2 CPTP C T exonic synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R
1 1374834 2 VWA1 A G exonic synonymous SNV VWA1:NM_022834:exon3:c.A1005G:p.P335P
1 1431165 1 ATAD3B C T exonic nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1777T:p.P593S,ATAD3B:NM_031921:exon16:c.C1915T:p.P639S
1 1452615 1 ATAD3A C T exonic synonymous SNV ATAD3A:NM_018188:exon3:c.C351T:p.A117A
1 1647814 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A429G:p.E143E,CDK11A:NM_001313982:exon5:c.A429G:p.E143E,CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_001291345:exon6:c.A429G:p.E143E,CDK11B:NM_001787:exon6:c.A459G:p.E153E,CDK11B:NM_033486:exon6:c.A459G:p.E153E,CDK11B:NM_033489:exon7:c.A357G:p.E119E RS72901775 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1647871 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A372G:p.R124R,CDK11A:NM_001313982:exon5:c.A372G:p.R124R,CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_001291345:exon6:c.A372G:p.R124R,CDK11B:NM_001787:exon6:c.A402G:p.R134R,CDK11B:NM_033486:exon6:c.A402G:p.R134R,CDK11B:NM_033489:exon7:c.A300G:p.R100R RS72909014 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650801 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11B:NM_001291345:exon4:c.A321G:p.E107E,CDK11A:NM_001313896:exon4:c.A321G:p.E107E,CDK11A:NM_001313982:exon4:c.A321G:p.E107E,CDK11B:NM_001787:exon4:c.A321G:p.E107E,CDK11A:NM_024011:exon4:c.A321G:p.E107E,CDK11B:NM_033486:exon4:c.A321G:p.E107E,CDK11A:NM_033529:exon4:c.A321G:p.E107E,CDK11B:NM_033489:exon5:c.A219G:p.E73E RS1137004 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650807 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11B:NM_001291345:exon4:c.A315G:p.R105R,CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R RS1137005 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650832 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.T290C:p.V97A,CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A RS72909030 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650845 1 CDK11A;CDK11B G A exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.C277T:p.R93W,CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11B:NM_001787:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033489:exon5:c.C175T:p.R59W RS1059831 Gene expression of MIB2 [transcript NM_080875, probe A_24_P259328] in liver
1 1653046 1 CDK11A;CDK11B T A exonic synonymous SNV CDK11B:NM_001291345:exon3:c.A216T:p.S72S,CDK11A:NM_001313896:exon3:c.A216T:p.S72S,CDK11A:NM_001313982:exon3:c.A216T:p.S72S,CDK11B:NM_001787:exon3:c.A216T:p.S72S,CDK11A:NM_024011:exon3:c.A216T:p.S72S,CDK11B:NM_033486:exon3:c.A216T:p.S72S,CDK11A:NM_033529:exon3:c.A216T:p.S72S,CDK11B:NM_033489:exon4:c.A114T:p.S38S
1 1653093 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon3:c.T169C:p.C57R,CDK11A:NM_001313896:exon3:c.T169C:p.C57R,CDK11A:NM_001313982:exon3:c.T169C:p.C57R,CDK11B:NM_001787:exon3:c.T169C:p.C57R,CDK11A:NM_024011:exon3:c.T169C:p.C57R,CDK11B:NM_033486:exon3:c.T169C:p.C57R,CDK11A:NM_033529:exon3:c.T169C:p.C57R,CDK11B:NM_033489:exon4:c.T67C:p.C23R
1 2126139 2 FAAP20 C G exonic nonsynonymous SNV FAAP20:NM_001256945:exon1:c.G50C:p.R17P,FAAP20:NM_001256946:exon1:c.G50C:p.R17P,FAAP20:NM_001256947:exon1:c.G50C:p.R17P,FAAP20:NM_001282673:exon1:c.G50C:p.R17P,FAAP20:NM_182533:exon1:c.G50C:p.R17P
1 2340200 2 PEX10 T C exonic synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T
1 2452569 2 PANK4 T C exonic synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K RS2985862 HDL cholesterol:LDL cholesterol:Gene expression of PANK4 [probe 218771_at] in prefrontal cortex:Gene expression of MMEL1 in peripheral blood monocytes:Body mass index (BMI):Serum ratio of (1-oleoylglycerol (1-monoolein))/(1-palmitoleoylglycerophosphocholine*):Transmission distortion:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 3394456 2 ARHGEF16 T C exonic synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S
1 3548136 2 WRAP73 T C exonic synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A RS2760321 Serum ratio of (1-stearoylglycerophosphocholine)/(2-tetradecenoyl carnitine)
1 3631167 2
1 3807593 2 C1orf174 G C exonic nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R RS4274008 Birth weight
1 6314822 2 GPR153 T C exonic synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T RS11590458 Gene expression of GPR153 (ENSG00000158292) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels
1 6614391 2 NOL9 A C exonic nonsynonymous SNV NOL9:NM_024654:exon1:c.T172G:p.S58A
1 6614415 2 NOL9 A G exonic nonsynonymous SNV NOL9:NM_024654:exon1:c.T148C:p.W50R
1 6693097 2 THAP3 A G exonic nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R RS3174820 Total cholesterol:Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Aortic valve calcium:Mitral annular calcium
1 6704635 2 DNAJC11 A G exonic synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G RS200458 Triglycerides:Cystatin C in serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar disorder:Hypertension (early onset hypertension):Adiponectin levels
1 8418644 2 RERE C A exonic synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R
1 8418650 2 RERE T C exonic synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R
1 8421203 2 RERE T C exonic synonymous SNV RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P RS13596 Gene expression of SLC45A1 (ENSG00000162426) in dendritic cells treated with Mycobacterium tuberculosis
1 9670834 2 TMEM201 C T exonic nonsynonymous SNV TMEM201:NM_001130924:exon9:c.C1736T:p.P579L RS4926472 LDL cholesterol:HDL cholesterol change with statins
1 9859098 2
1 11087524 2 MASP2 G A exonic synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S RS1782455 Serum creatinine:Height:Microalbuminuria:Obesity with early age of onset (age >2)
1 11119899 2 SRM T C exonic synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S
1 11132217 2 EXOSC10 G A exonic synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R RS1130683 Autism:Microalbuminuria:Birth weight:Parkinson's disease:Paternal transmission distortion:Obesity with early age of onset (age >2)
1 11141187 2 EXOSC10 C G exonic synonymous SNV EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P
1 11205058 2 MTOR C T exonic synonymous SNV MTOR:NM_004958:exon33:c.G4731A:p.A1577A RS1057079 Differential exon level expression of EXOSC10 [probe 2396496] in brain cortex:Differential exon level expression of EXOSC10 [probe 2396496] in peripheral blood mononuclear cells:Pulse wave velocity:Total cholesterol:Autism:Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Corneal curvature:Gene expression of FRAP1 in blood:Serum concentration of isobutyrylcarnitine:Variant Creutzfeldt-Jakob disease:Paternal transmission distortion:Parkinson's disease:Birth weight:Obesity with early age of onset (age >2)
1 11288758 2 MTOR G A exonic synonymous SNV MTOR:NM_004958:exon19:c.C2997T:p.N999N RS1064261 Differential splicing of FRAP1 [probeset 2396584] in lymphoblastoid cell lines:Total cholesterol:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age >2):Parkinson's disease
1 11301714 2 MTOR A G exonic synonymous SNV MTOR:NM_004958:exon10:c.T1437C:p.D479D RS1135172 Adiponectin levels
1 11849447 2 C1orf167 A G exonic nonsynonymous SNV C1orf167:NM_001010881:exon21:c.A4294G:p.R1432G
1 11854457 2 MTHFR G A exonic synonymous SNV MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F RS4846051 Cystatin C in serum:Serum creatinine
1 11983206 2 KIAA2013 A G exonic synonymous SNV KIAA2013:NM_138346:exon2:c.T1374C:p.F458F
1 12082926 2 MIIP A G exonic nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E RS2295283 Differential exon level expression of MFN2 [probe 2320645] in peripheral blood mononuclear cells:Simpson-Angus Scale:Gene expression of PLOD1 in peripheral blood monocytes:Gene expression of MFN2 in peripheral blood monocytes:Gene expression of MIIP [transcript NM_021933, probe A_23_P114649] in liver:Gene expression of MFN2 in blood:Gene expression of PLOD1 in blood:Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(arabinose):Serum ratio of (laurate (12:0))/(xanthine):Gene expression of MFN2 [probeset 216205_s_at] in sputum:Gene expression of MFN2 [probeset 201155_s_at] in sputum:Bipolar disorder:Migraine
1 12401868 2 VPS13D A C exonic synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P RS28551666 Serum ratio of (1-methylurate)/(HWESASXX*):Diabetic retinopathy in Type 2 diabetes mellitus
1 12638964 2 DHRS3 T C exonic synonymous SNV DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P RS2275875 Differential exon level expression of DHRS3 [probe 2397040] in brain cortex:Serum ratio of (threitol)/(trigonelline (N'-methylnicotinate)):Serum concentration of serotonin (5HT)
1 16096934 2 FBLIM1 C T exonic nonsynonymous SNV FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F RS10927851 LDL cholesterol
1 16388646 2 FAM131C T C exonic synonymous SNV FAM131C:NM_182623:exon4:c.A216G:p.R72R
1 16641899 2 FBXO42 C T exonic synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S
1 16890606 1 NBPF1 C T exonic unknown UNKNOWN
1 16902823 1 NBPF1 G C exonic unknown UNKNOWN
1 16902884 1 NBPF1 T C exonic unknown UNKNOWN
1 16907328 1 NBPF1 G T exonic unknown UNKNOWN
1 17264170 1 CROCC G C exonic nonsynonymous SNV CROCC:NM_014675:exon10:c.G1228C:p.E410Q
1 17264200 1 CROCC A G exonic nonsynonymous SNV CROCC:NM_014675:exon10:c.A1258G:p.N420D
1 17265511 1 CROCC C T exonic synonymous SNV CROCC:NM_014675:exon12:c.C1482T:p.S494S
1 17265532 1 CROCC C G exonic synonymous SNV CROCC:NM_014675:exon12:c.C1503G:p.P501P
1 17275337 1 CROCC C T exonic nonsynonymous SNV CROCC:NM_014675:exon19:c.C2752T:p.R918W
1 17277485 1 CROCC A G exonic synonymous SNV CROCC:NM_014675:exon20:c.A2874G:p.T958T
1 17277573 1 CROCC C T exonic nonsynonymous SNV CROCC:NM_014675:exon20:c.C2962T:p.R988W
1 17277581 1 CROCC T C exonic synonymous SNV CROCC:NM_014675:exon20:c.T2970C:p.A990A
1 17295679 2 CROCC T C exonic synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A
1 17380497 2 SDHB G T exonic synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A
1 17991052 2 ARHGEF10L T C exonic nonsynonymous SNV ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R
1 19411129 2 UBR4 A G exonic synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H RS1043905 Body mass index (BMI)
1 19413261 2 UBR4 T A exonic nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L RS12584 Body mass index (BMI)
1 19415304 2 UBR4 C T exonic synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K RS1043899 Serum ratio of (1-stearoylglycerophosphocholine)/(dodecanedioate)
1 19433449 2 UBR4 A G exonic synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V RS6426677 Body mass index (BMI)
1 19447843 2 UBR4 C G exonic synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L RS1044010 Body mass index (BMI)
1 20987873 2 DDOST G C exonic nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G
1 21167404 2 EIF4G3 A G exonic synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L RS7553394 PROP taste detection threshold
1 21804601 2 NBPF3 T A exonic stopgain NBPF3:NM_001256416:exon9:c.T1032A:p.Y344X
1 21804609 2 NBPF3 G A exonic nonsynonymous SNV NBPF3:NM_001256416:exon9:c.G1040A:p.C347Y
1 22191454 2 HSPG2 G A exonic nonsynonymous SNV HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V RS897471 Triglycerides:Microalbuminuria:Infant head circumference:Gene expression of HSPG2 (ENSG00000142798) in dendritic cells treated with Mycobacterium tuberculosis
1 22206649 2 HSPG2 T C exonic nonsynonymous SNV HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S RS989994 Cystatin C in serum
1 22206942 2 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A
1 22207235 2 HSPG2 T C exonic nonsynonymous SNV HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V
1 22214127 2 HSPG2 A G exonic synonymous SNV HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L
1 22217108 2 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F
1 22835677 2 ZBTB40 A G exonic nonsynonymous SNV ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C RS209729 Schizophrenia:Simpson-Angus Scale:Gene expression of [probe 1850386 centered at chr1:22884236] in blood:Gene expression of ZBTB40 in blood:Refractive error:Obesity with early age of onset (age >2)
1 22846709 2 ZBTB40 G A exonic nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M
1 23885498 2 ID3 T C exonic nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A RS11574 Height:Body mass index (BMI):Gene expression of ASAP3 (ENSG00000088280) in dendritic cells treated with Mycobacterium tuberculosis:Aortic valve calcium:Gene expression change of ASAP3 (ENSG00000088280) in dendritic cells after treatment with Mycobacterium tuberculosis
1 24134721 2 HMGCL T C exonic synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L RS719400 Total cholesterol:Serum creatinine:Salmonella-induced pyroptosis
1 24859617 2 RCAN3 G A exonic synonymous SNV RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P
1 24859665 2 RCAN3 G A exonic synonymous SNV RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P
1 24861704 2 RCAN3 G A exonic nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q RS196432 Celiac disease:Partial epilepsy:Gene expression of GRHL3 [transcript NM_021180, probe A_23_P52067] in liver:Gene expression of RCAN3 [transcript NM_013441, probe A_23_P391275] in liver
1 26131654 2 SELENON G A exonic unknown UNKNOWN
1 26138262 2 SELENON T C exonic unknown UNKNOWN
1 26140573 2 SELENON C A exonic unknown UNKNOWN RS2294228 Advanced age-related macular degeneration (geographic atrophy):Gene expression change of SEPN1 (ENSG00000162430) in dendritic cells after treatment with Mycobacterium tuberculosis
1 26786627 2 DHDDS G A exonic nonsynonymous SNV DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_001319959:exon8:c.G478A:p.V160M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M RS3816539 Waist hip ratio:Mean corpuscular volume (MCV)
1 27210721 2 GPN2 T C exonic nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G RS3170660 HDL cholesterol:Triglycerides:LDL cholesterol
1 27320356 2 TRNP1 T C exonic nonsynonymous SNV TRNP1:NM_001013642:exon1:c.T79C:p.W27R
1 27427041 2 SLC9A1 T C exonic synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E RS4418629 LDL cholesterol:HDL cholesterol:LDL cholesterol change with statins:Advanced age-related macular degeneration:Adiponectin levels
1 27687466 2 MAP3K6 G T exonic nonsynonymous SNV MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K
1 27875824 2 AHDC1 C T exonic nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T RS4908364 Cystatin C in serum
1 30872602 2
1 33065947 2 ZBTB8A G C exonic nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A
1 33133968 2 RBBP4 T C exonic synonymous SNV RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V
1 33957152 2 ZSCAN20 T G exonic nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D
1 33960062 2 ZSCAN20 A G exonic synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A RS9943259 HDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):Triglycerides change with statins:Lp-PLA2 mass:Serum ratio of (gamma-tocopherol)/(indolelactate):Infant head circumference:Paternal transmission distortion
1 35562965 2 ZMYM1 G A exonic nonsynonymous SNV ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M RS2971408 Barnes Akathisia Rating Scale:Triglycerides:Diastolic blood pressure (DBP):Refractive error
1 36642420 2 MAP7D1 T C exonic synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S
1 36752433 2 THRAP3 C T exonic nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V RS6425977 Spine bone mineral density (BMD):HDL cholesterol change with statins:Waist hip ratio:Gene expression of MAP7D1 in blood:Serum concentration of creatine:Diabetic retinopathy in Type 2 diabetes mellitus
1 38148765 2 C1orf109 A G exonic nonsynonymous SNV C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H RS684260 Neuroticism:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Birth weight
1 38338795 2 INPP5B A G exonic nonsynonymous SNV INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T RS11488569 Autism:Triglycerides:Adiponectin levels:Gene expression of C1orf122 (ENSG00000197982) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of C1orf122 (ENSG00000197982) in dendritic cells
1 40236014 1 OXCT2 C T exonic nonsynonymous SNV OXCT2:NM_022120:exon1:c.G914A:p.R305H
1 40236074 2 OXCT2 A C exonic nonsynonymous SNV OXCT2:NM_022120:exon1:c.T854G:p.L285R
1 40236128 2 OXCT2 T C exonic nonsynonymous SNV OXCT2:NM_022120:exon1:c.A800G:p.D267G
1 40363054 2 MYCL G C exonic nonsynonymous SNV MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S RS3134614 Abnormal Involuntary Movement Scale:Gene expression of TRIT1 in peripheral blood monocytes:Triglycerides:Total cholesterol:Height:Adiponectin levels:Parkinson's disease:Obesity with early age of onset (age >2)
1 40533266 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G
1 40533287 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G
1 40533326 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D
1 40533347 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A
1 40881041 2 SMAP2 C G exonic synonymous SNV SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S RS209606 Infant head circumference:Advanced age-related macular degeneration:Personality disorders (PD) - Cluster C
1 41204569 2 NFYC C T exonic synonymous SNV NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S RS1057925 HOMA-IR:Gene expression of NFYC in normal prepouch ileum
1 42693597 2 FOXJ3 A G exonic nonsynonymous SNV FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A RS343376 Differential exon level expression of FOXJ3 [probe 2408886] in brain cortex:Differential exon level expression of FOXJ3 [probe 2408880] in brain cortex:Differential exon level expression of FOXJ3 [probe 2408896] in brain cortex:Differential exon level expression of GUCA2B [probe 2332488] in brain cortex:2 hour glucose:Chronic kidney disease:Lp-PLA2 mass:Height:Waist hip ratio:Neuroblastoma (brain cancer):Adiponectin levels:Obsessive-compulsive disorder (OCD)
1 43212431 2 P3H1 A G exonic synonymous SNV P3H1:NM_022356:exon15:c.T2148C:p.G716G
1 44058265 2 PTPRF C A exonic synonymous SNV PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A RS3828151 Triglycerides change with statins:Chronic kidney disease:PROP taste detection threshold
1 44071221 2 PTPRF G A exonic synonymous SNV PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V RS631248 Fasting blood glucose:LDL cholesterol:Total cholesterol:Gene expression of CCDC24 in peripheral blood monocytes
1 44083507 2 PTPRF T C exonic synonymous SNV PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G RS641365 Irritible bowel syndrome:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Lp-PLA2 activity:Gene expression of CCDC24 in peripheral blood monocytes:Gene expression of GPR146 in peripheral blood monocytes:Serum ratio of (lathosterol)/(scyllo-inositol):Diastolic blood pressure (DBP):Years of education
1 44083519 2 PTPRF G A exonic synonymous SNV PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R
1 44084739 2 PTPRF C T exonic synonymous SNV PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R
1 44137257 2 KDM4A C A exonic nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E RS586339 Simpson-Angus Scale:Fasting blood glucose:Years of education:Refractive error
1 45504720 2 ZSWIM5 G C exonic synonymous SNV ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T RS7551698 Fasting blood glucose:HDL cholesterol
1 46476587 2 MAST2 T G exonic nonsynonymous SNV MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E RS11211247 HOMA-B:Gene expression of NASP in peripheral blood monocytes:HDL cholesterol:Waist hip ratio:Serum concentration of acetylphosphate:Birth weight:Transmission distortion:Paternal transmission distortion:Advanced age-related macular degeneration
1 46655158 2 POMGNT1 T C exonic nonsynonymous SNV POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V
1 46871986 2 FAAH T C exonic synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C RS324419 LDL cholesterol:Premature ovarian failure:Cystatin C in serum:Gene expression of NSUN4 in blood:Serum ratio of (cholesterol)/(cysteine-glutathione disulfide)
1 47078637 2 MOB3C T C exonic synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A
1 47133811 2 ATPAF1 T C exonic nonsynonymous SNV ATPAF1:NM_001042546:exon1:c.A253G:p.S85G,ATPAF1:NM_022745:exon1:c.A253G:p.S85G
1 51873951 2 EPS15 G A exonic synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y RS1065754 Spine bone mineral density (BMD):Irritible bowel syndrome:Gene expression of EPS15 in blood
1 52266242 2 NRDC G A exonic synonymous SNV NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P RS8375 Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Birth weight:Years of education:Parkinson's disease
1 52290984 2 NRDC T G exonic synonymous SNV NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G RS11205896 HDL cholesterol change with statins:Nicotine dependence (smoking), cigarettes per day:Waist hip ratio:Parkinson's disease:Birth weight
1 53072454 2 GPX7 T C exonic synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F
1 53250650 2 ZYG11B G A exonic synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G
1 53563589 2
1 53716416 2 LRP8 G A exonic synonymous SNV LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D RS3737983 Hip bone mineral density (BMD):Gene expression of C1orf123 [probe 2413153] in peripheral blood mononuclear cells:Serum creatinine:Asthma:Waist hip ratio:Gene expression of C1orf123 [probe ILMN_28661] in osteoblasts treated with PGE2:Gene expression of CPT2///C1orf123 in blood:Serum ratio of (bradykinin, des-arg(9))/(taurocholate):Gene expression of C1ORF123 in liver:Years of education
1 55182300 2 TTC4 T A exonic nonsynonymous SNV TTC4:NM_001291333:exon2:c.T139A:p.S47T,TTC4:NM_004623:exon2:c.T139A:p.S47T RS1147990 Waist hip ratio:Gene expression of PARS2 (ENSG00000162396) in dendritic cells
1 55638075 2 USP24 G A exonic nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I RS1165222 Schizophrenia:Differential exon level expression of USP24 [probe 2413969] in peripheral blood mononuclear cells:Differential exon level expression of USP24 [probe 2413969] in brain cortex:Abnormal Involuntary Movement Scale:Total cholesterol change with statins:Total cholesterol:LDL cholesterol:Primary rhegmatogenous retinal detachment
1 59142713 2 MYSM1 T C exonic synonymous SNV MYSM1:NM_001085487:exon9:c.A1275G:p.P425P
1 59147926 2 MYSM1 T C exonic nonsynonymous SNV MYSM1:NM_001085487:exon8:c.A790G:p.T264A RS12139511 Triglycerides change with statins:LDL cholesterol:Lp-PLA2 activity:Waist hip ratio:Gene expression of OMA1 in blood:Variant Creutzfeldt-Jakob disease:Refractive error
1 61869783 2 NFIA G A exonic synonymous SNV NFIA:NM_001134673:exon8:c.G1083A:p.P361P,NFIA:NM_001145511:exon8:c.G1059A:p.P353P,NFIA:NM_005595:exon8:c.G1083A:p.P361P,NFIA:NM_001145512:exon9:c.G1218A:p.P406P
1 62713224 2 KANK4 C G exonic nonsynonymous SNV KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L RS2941679 Nicotine initiation (smoking):Mitral annular calcium
1 62728784 2 KANK4 A G exonic nonsynonymous SNV KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A RS2666472 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Hip bone mineral density (BMD):Gene expression of probeset 2415948 in lymphoblastoid cell lines:Gene expression of probeset 2415950 in osteoblasts:Total cholesterol change with statins:Infant head circumference:Adiponectin levels
1 62728838 2 KANK4 T C exonic nonsynonymous SNV KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R RS2258470 Total cholesterol change with statins:Infant head circumference:Adiponectin levels
1 62728861 2 KANK4 T C exonic synonymous SNV KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K RS2260581 Abnormal Involuntary Movement Scale:Total cholesterol change with statins:Infant head circumference:Adiponectin levels
1 62728918 2 KANK4 G A exonic synonymous SNV KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P RS2262110 Triglycerides:HOMA-B:Total cholesterol change with statins:Adiponectin levels
1 62740446 2 KANK4 T C exonic synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P RS2666506 Triglycerides:Methylation levels at chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal cortex:Triglycerides:Total cholesterol:LDL cholesterol:Adiponectin levels:Infant head circumference
1 62740449 2 KANK4 T C exonic synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S RS2666507 Triglycerides:Methylation levels at chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal cortex:Triglycerides:Total cholesterol:Infant head circumference:Adiponectin levels
1 63881552 2 ALG6 C T exonic nonsynonymous SNV ALG6:NM_013339:exon11:c.C911T:p.S304F
1 63991267 1 EFCAB7 T C exonic synonymous SNV EFCAB7:NM_032437:exon2:c.T24C:p.D8D RS217478 Total cholesterol change with statins:Serum creatinine:Chronic kidney disease:LDL cholesterol:Total cholesterol:Gene expression of ITGB3BP in CD4+ lymphocytes:Alzheimer's disease:Serum ratio of (catechol sulfate)/(octadecanedioate):Variant Creutzfeldt-Jakob disease:Gene expression of ITGB3BP (probeID ILMN_1692790) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ITGB3BP (probeID ILMN_1692790) in temporal cortex in Alzheimer's disease cases and controls
1 64515379 2 ROR1 C T exonic synonymous SNV ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L
1 64624842 2 ROR1 A G exonic synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V
1 65113568 2 CACHD1 T C exonic nonsynonymous SNV CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T
1 65858151 2 DNAJC6 C T exonic synonymous SNV DNAJC6:NM_001256864:exon12:c.C1506T:p.H502H,DNAJC6:NM_014787:exon12:c.C1335T:p.H445H,DNAJC6:NM_001256865:exon13:c.C1296T:p.H432H
1 66058513 2 LEPR A G exonic nonsynonymous SNV LEPR:NM_001198687:exon5:c.A668G:p.Q223R,LEPR:NM_001198688:exon5:c.A668G:p.Q223R,LEPR:NM_001198689:exon5:c.A668G:p.Q223R,LEPR:NM_001003679:exon6:c.A668G:p.Q223R,LEPR:NM_001003680:exon6:c.A668G:p.Q223R,LEPR:NM_002303:exon6:c.A668G:p.Q223R RS1137101 Rheumatoid arthritis:Fasting insulin:Plasma soluble leptin receptor (sOB-R) levels:IL6:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of LEPROT///LEPR in blood:Diastolic blood pressure (DBP):Coronary artery disease (CAD)
1 66096087 1 LEPR G T exonic stoploss LEPR:NM_001198687:exon19:c.G2876T:p.X959L,LEPR:NM_001003680:exon20:c.G2876T:p.X959L
1 67390468 2 WDR78 C G exonic nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A RS1886686 Cystatin C in serum:Height:Microalbuminuria:College completion:Obesity with early age of onset (age >2):Birth weight
1 74665493 2 FPGT;FPGT-TNNI3K G A exonic synonymous SNV FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V RS792310 Gene expression of MGC22773 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of LRRIQ3 [probe 235498_at] in lymphoblastoid cell lines:Gene expression of probe 1560760_s_at in lymphoblastoid cell lines:LDL cholesterol change with statins:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of FPGT (probeID ILMN_1727878) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LRRIQ3 in normal prepouch ileum:Years of education:Gene expression of FPGT (probeID ILMN_1727878) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FPGT in normal prepouch ileum
1 75175886 2 CRYZ T C exonic nonsynonymous SNV CRYZ:NM_001134759:exon4:c.A115G:p.I39V,CRYZ:NM_001130043:exon6:c.A526G:p.I176V,CRYZ:NM_001889:exon6:c.A526G:p.I176V,CRYZ:NM_001130042:exon7:c.A526G:p.I176V RS3819946 Gene expression of CRYZ in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Gene expression of CRYZ in peripheral blood monocytes:Partial epilepsy:Intracranial aneurysm:LDL cholesterol:Gene expression of C1orf171 [probe ILMN_26975] in osteoblasts treated with PGE2:Serum ratio of (2-tetradecenoyl carnitine)/(glycochenodeoxycholate):Bipolar disorder:Tetrology of fallot:Hypertension (early onset hypertension):Gene expression of CRYZ in normal prepouch ileum:Obesity with early age of onset (age >2)
1 75190452 2 CRYZ C T exonic synonymous SNV CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G RS1051122 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 75214441 2 TYW3 A G exonic nonsynonymous SNV TYW3:NM_001162916:exon3:c.A262G:p.M88V,TYW3:NM_138467:exon4:c.A361G:p.M121V RS1133891 Obesity with early age of onset (age >2):Gene expression of TYW3 (ENSG00000162623) in dendritic cells:Years of education:Gene expression of CRYZ in normal prepouch ileum
1 75681511 2 SLC44A5 T C exonic synonymous SNV SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q RS595009 Triglycerides:Total cholesterol:LDL cholesterol
1 75716925 2 SLC44A5 C T exonic synonymous SNV SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V RS588098 Tardive dyskinesia:Asthma:Height:Mitral annular calcium
1 78211121 1 USP33 C T exonic synonymous SNV USP33:NM_015017:exon2:c.G27A:p.T9T,USP33:NM_201626:exon2:c.G27A:p.T9T
1 82421596 2 ADGRL2 C T exonic synonymous SNV ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P
1 84944989 2 RPF1 A G exonic nonsynonymous SNV RPF1:NM_025065:exon1:c.A25G:p.S9G RS2292191 Simpson-Angus Scale:Gene expression of SPATA1 in normal prepouch ileum
1 85624549 2 SYDE2 C T exonic nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I
1 85648620 2 SYDE2 C T exonic nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I
1 86818572 2 ODF2L T C exonic synonymous SNV ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E
1 86820267 2 ODF2L C T exonic synonymous SNV ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E RS1182098 Serum creatinine:Chronic kidney disease:Cystatin C in serum:Body mass index (BMI):Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ODF2L (probeID ILMN_2325028) in temporal cortex in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus
1 86838158 2 ODF2L C T exonic synonymous SNV ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V RS421105 Premature ovarian failure:Gene expression of ODF2L in Fibroblasts:Gene expression of ODF2L in Lymphoblastoid cell lines:Gene expression of ODF2L in T cells:Gene expression of ODF2L [probe ILMN_2325028] in peripheral leukocytes:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Gene expression of ODF2L in blood:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in Alzheimer's disease cases:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ODF2L (probeID ILMN_2325028) in temporal cortex in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in non-Alzheimer's disease samples:Gene expression of ODF2L (probeID ILMN_2325028) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ODF2L (probeID ILMN_2325028) in temporal cortex in Alzheimer's disease cases
1 89322982 2 GTF2B G A exonic synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L
1 89579941 2 GBP2 T C exonic nonsynonymous SNV GBP2:NM_004120:exon7:c.A907G:p.S303G
1 90486412 2 ZNF326 T G exonic synonymous SNV ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V RS2816881 HDL cholesterol
1 90493026 2 ZNF326 G A exonic synonymous SNV ZNF326:NM_181781:exon10:c.G897A:p.E299E,ZNF326:NM_001320185:exon12:c.G1248A:p.E416E,ZNF326:NM_182976:exon12:c.G1515A:p.E505E RS10922744 HDL cholesterol
1 91980447 2 CDC7 A G exonic synonymous SNV CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T RS483532 Triglycerides:Serum ratio of (1-methylurate)/(homocitrulline):Glaucoma (normal pressure glaucoma)
1 92262874 2 TGFBR3 T C exonic synonymous SNV TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A RS2810904 Triglycerides change with statins:HDL cholesterol change with statins:Parkinson's disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight
1 92327045 2 TGFBR3 G A exonic nonsynonymous SNV TGFBR3:NM_001195683:exon2:c.C44T:p.S15F,TGFBR3:NM_003243:exon2:c.C44T:p.S15F,TGFBR3:NM_001195684:exon3:c.C44T:p.S15F RS1805110 Abnormal Involuntary Movement Scale:Tardive dyskinesia:Alzheimer's disease:Lp-PLA2 mass:Total cholesterol:LDL cholesterol:Triglycerides:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Parkinson's disease
1 92646021 2 KIAA1107 G A exonic synonymous SNV KIAA1107:NM_015237:exon6:c.G1242A:p.K414K RS1483022 Rheumatoid arthritis:Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months):Years of education
1 92647223 2 KIAA1107 A G exonic nonsynonymous SNV KIAA1107:NM_015237:exon6:c.A2444G:p.N815S RS560389 Arthritis including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Rheumatoid arthritis:Gene expression of RPAP2 in blood:Years of education:Infant head circumference:Total cholesterol:Tetrology of fallot
1 92647532 2 KIAA1107 C A exonic nonsynonymous SNV KIAA1107:NM_015237:exon6:c.C2753A:p.T918N
1 92979354 2 EVI5 A G exonic synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G RS6603979 Total cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol:Height:Multiple sclerosis severity scale (median):Multiple sclerosis severity scale (continuous):Multiple sclerosis severity scale (extreme)
1 93089823 2 EVI5 T C exonic synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q RS7514716 Triglycerides change with statins:Total cholesterol:LDL cholesterol:Height:Systolic blood pressure (SBP):Years of education
1 93160902 2 EVI5 T C exonic nonsynonymous SNV EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V RS2391199 Arthritis including non-Rheumatoid:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Height:Systolic blood pressure (SBP):Years of education
1 93580581 2 MTF2 G C exonic nonsynonymous SNV MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S
1 93672723 2 CCDC18 A C exonic nonsynonymous SNV CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T RS2815413 HDL cholesterol:Tardive dyskinesia:HDL cholesterol change with statins:Triglycerides change with statins:HDL cholesterol:LDL cholesterol:Gene expression of TMED5 (ENSG00000117500) in dendritic cells:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2)
1 94639447 2 ARHGAP29 C T exonic nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D
1 95001600 2 F3 A C exonic synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P
1 95330372 2 SLC44A3 G A exonic nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I RS859098 LDL cholesterol:HDL cholesterol:Schizophrenia:Premature ovarian failure:Gene expression of SLC44A3 in Cerebellum:Height:Microalbuminuria:Serum ratio of (biliverdin)/(HWESASXX*):Taste change in healthy volunteers in response to topiramate treatment (Normal taste):Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Alzheimer's disease cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in non-Alzheimer's disease samples:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Alzheimer's disease cases and controls
1 95709821 2 RWDD3 T C exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A
1 95709939 2 RWDD3 T G exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K RS2296308 Rheumatoid arthritis:Gene expression of TTC25 in peripheral blood monocytes:Partial epilepsy:Neuroblastoma (brain cancer):Serum ratio of (ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early onset hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid
1 99127392 2 SNX7 T C exonic synonymous SNV SNX7:NM_015976:exon1:c.T105C:p.S35S,SNX7:NM_152238:exon1:c.T105C:p.S35S
1 99225627 2 SNX7 G A exonic synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E
1 100672060 2 DBT T C exonic nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G RS12021720 Arthritis including non-Rheumatoid:High-grade glioma:Partial epilepsy:Total cholesterol:Glioma:Serum ratio of (4-acetamidobutanoate)/(glycerate)
1 109794252 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S RS454107 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD)
1 109795026 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y RS413380 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 109795608 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F RS437444 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:Total cholesterol:LDL cholesterol:Serum ratio of (2-hydroxyisobutyrate)/(hypoxanthine):Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 109884775 2 SORT1 T G exonic synonymous SNV SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T RS2228604 Cystatin C in serum:Serum creatinine:Chronic kidney disease:Bipolar disorder:College completion
1 109897103 2 SORT1 A G exonic synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F RS11142 LDL cholesterol:HOMA-B:Cystatin C in serum:Serum creatinine:Chronic kidney disease:Methylation levels at chr1:109742583-109742633 [hg18 coord, probe cg02175308] in Cerebellum:Total cholesterol:LDL cholesterol:Coronary artery disease (CAD):College completion
1 110170896 2 AMPD2 T C exonic synonymous SNV AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001308170:exon9:c.T1209C:p.H403H,AMPD2:NM_001257361:exon10:c.T1080C:p.H360H,AMPD2:NM_004037:exon10:c.T1434C:p.H478H,AMPD2:NM_139156:exon10:c.T1191C:p.H397H,AMPD2:NM_001257360:exon11:c.T1434C:p.H478H RS863978 Serum creatinine:Urinary albumin-to-creatinine ratio
1 110201699 2 GSTM4 T C exonic synonymous SNV GSTM4:NM_000850:exon7:c.T534C:p.F178F,GSTM4:NM_147148:exon7:c.T534C:p.F178F RS506008 Triglycerides:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium
1 110233138 2 GSTM1 G C exonic nonsynonymous SNV GSTM1:NM_000561:exon7:c.G519C:p.K173N
1 110466709 2 CSF1 T C exonic nonsynonymous SNV CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S
1 112269872 2 FAM212B G A exonic synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F
1 112999227 2 CTTNBP2NL G A exonic synonymous SNV CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q RS1175641 Triglycerides:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Mitral annular calcium
1 113456546 2 SLC16A1 A T exonic nonsynonymous SNV SLC16A1:NM_001166496:exon5:c.T1470A:p.D490E,SLC16A1:NM_003051:exon5:c.T1470A:p.D490E RS1049434 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Serum ratio of (allantoin)/(hexadecanedioate):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Refractive error
1 113657092 2 LRIG2 A C exonic synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T RS1216793 Total cholesterol change with statins:Waist hip ratio
1 118148229 2
1 120611964 1 NOTCH2 G C exonic nonsynonymous SNV NOTCH2:NM_001200001:exon1:c.C57G:p.C19W,NOTCH2:NM_024408:exon1:c.C57G:p.C19W
1 120612006 1 NOTCH2 G A exonic synonymous SNV NOTCH2:NM_001200001:exon1:c.C15T:p.R5R,NOTCH2:NM_024408:exon1:c.C15T:p.R5R
1 144854597 2 PDE4DIP T C exonic synonymous SNV PDE4DIP:NM_001350520:exon38:c.A7359G:p.R2453R,PDE4DIP:NM_001198834:exon42:c.A6873G:p.R2291R,PDE4DIP:NM_014644:exon42:c.A6873G:p.R2291R,PDE4DIP:NM_001350522:exon43:c.A6714G:p.R2238R,PDE4DIP:NM_001198832:exon44:c.A6555G:p.R2185R,PDE4DIP:NM_001350521:exon44:c.A7167G:p.R2389R,PDE4DIP:NM_001350523:exon44:c.A6552G:p.R2184R
1 144854598 2 PDE4DIP C T exonic nonsynonymous SNV PDE4DIP:NM_001350520:exon38:c.G7358A:p.R2453Q,PDE4DIP:NM_001198834:exon42:c.G6872A:p.R2291Q,PDE4DIP:NM_014644:exon42:c.G6872A:p.R2291Q,PDE4DIP:NM_001350522:exon43:c.G6713A:p.R2238Q,PDE4DIP:NM_001198832:exon44:c.G6554A:p.R2185Q,PDE4DIP:NM_001350521:exon44:c.G7166A:p.R2389Q,PDE4DIP:NM_001350523:exon44:c.G6551A:p.R2184Q
1 144877176 1 PDE4DIP C T exonic nonsynonymous SNV PDE4DIP:NM_001350520:exon24:c.G4997A:p.R1666Q,PDE4DIP:NM_001198834:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_014644:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_001198832:exon31:c.G4379A:p.R1460Q,PDE4DIP:NM_001350521:exon31:c.G4922A:p.R1641Q,PDE4DIP:NM_001350522:exon31:c.G4709A:p.R1570Q,PDE4DIP:NM_001350523:exon31:c.G4376A:p.R1459Q
1 144879264 2 PDE4DIP A G exonic nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R
1 144879375 2 PDE4DIP T C exonic nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E
1 144882581 1 PDE4DIP A G exonic synonymous SNV PDE4DIP:NM_001350520:exon20:c.T3927C:p.I1309I,PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_001350521:exon27:c.T3849C:p.I1283I,PDE4DIP:NM_001350522:exon27:c.T3636C:p.I1212I
1 144917546 1 PDE4DIP A G exonic synonymous SNV PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001350520:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001002812:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198834:exon12:c.T1558C:p.L520L,PDE4DIP:NM_014644:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198832:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350521:exon15:c.T1969C:p.L657L,PDE4DIP:NM_001350522:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350523:exon15:c.T1756C:p.L586L
1 144930596 1 PDE4DIP C A exonic synonymous SNV PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P,PDE4DIP:NM_001350520:exon1:c.G1113T:p.P371P RS2762867 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 144931330 1 PDE4DIP C T exonic nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T,PDE4DIP:NM_001350520:exon1:c.G379A:p.A127T RS2762745 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 145103947 2 SEC22B T C exonic unknown UNKNOWN
1 145109549 2 SEC22B G T exonic unknown UNKNOWN
1 145109583 2 SEC22B C A exonic unknown UNKNOWN
1 145112414 2 SEC22B T C exonic unknown UNKNOWN
1 145112428 2 SEC22B C T exonic unknown UNKNOWN
1 145112485 2 SEC22B C T exonic unknown UNKNOWN
1 145115810 2 SEC22B A G exonic unknown UNKNOWN
1 145273345 1 NOTCH2NL T C exonic nonsynonymous SNV NOTCH2NL:NM_203458:exon3:c.T199C:p.S67P
1 145281543 1 NOTCH2NL C T exonic nonsynonymous SNV NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I
1 145293420 1 NBPF10 C T exonic synonymous SNV NBPF10:NM_001039703:exon1:c.C15T:p.A5A,NBPF10:NM_001302371:exon1:c.C15T:p.A5A
1 145299824 1 NBPF10 C G exonic nonsynonymous SNV NBPF10:NM_001039703:exon6:c.C873G:p.I291M,NBPF10:NM_001302371:exon6:c.C873G:p.I291M
1 145299833 1 NBPF10 A G exonic synonymous SNV NBPF10:NM_001039703:exon6:c.A882G:p.K294K,NBPF10:NM_001302371:exon6:c.A882G:p.K294K
1 145368461 1 NBPF9 A C exonic unknown UNKNOWN
1 146672906 2 FMO5 C T exonic synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P RS894469 Differential exon level expression of CHD1L [probe 2356761] in peripheral blood mononuclear cells:Alzheimer's disease:Total cholesterol change with statins:Triglycerides:Height:Bipolar disorder:Hypertension (early onset hypertension)
1 146751782 2 CHD1L A C exonic synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I RS7547279 Advanced age-related macular degeneration (geographic atrophy)
1 146767149 2 CHD1L G T exonic nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S RS4950394 Height:Advanced age-related macular degeneration (geographic atrophy)
1 147121977 2 ACP6 C T exonic nonsynonymous SNV ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M RS6593795 Salmonella-induced pyroptosis
1 147124310 2 ACP6 T G exonic synonymous SNV ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R RS2153463 Gene expression of probe 242270_at in lymphoblastoid cell lines:Gene expression of ACP6 [probe 218795_at] in lymphoblastoid cell lines:Gene expression of ACP6 in Caudal pons:Gene expression of ACP6 in Temporal cortex:Gene expression of ACP6 in liver:Gene expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ACP6 (probeID ILMN_2234343) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of ACP6 in normal prepouch ileum:Salmonella-induced pyroptosis:Aortic valve calcium
1 148594472 1 NBPF15 G A exonic synonymous SNV NBPF15:NM_173638:exon19:c.G1845A:p.P615P,NBPF15:NM_001170755:exon22:c.G1845A:p.P615P
1 150531050 2 ADAMTSL4 G A exonic synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P
1 150531170 2 ADAMTSL4 C T exonic synonymous SNV ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H
1 150771703 2 CTSK T C exonic synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A RS10788796 Triglycerides:Parkinson's disease
1 151006539 2 PRUNE1 C A exonic synonymous SNV PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G RS3738476 HDL cholesterol:Autism with low IQ:Height:Waist hip ratio:Years of education:College completion
1 151105824 2 SEMA6C C G exonic synonymous SNV SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P
1 151108137 2 SEMA6C T G exonic nonsynonymous SNV SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P RS4971007 Gene expression of CDC42SE1 [probe 223674_s_at] in lymphoblastoid cell lines:Gene expression of LYSMD1 [probe 232283_at] in lymphoblastoid cell lines:Gene expression of BNIPL in blood cells in Celiac disease:Body mass index (BMI):Gene expression of SELENBP1 in blood:Gene expression of C1orf56///MLLT11 in blood:Gene expression of BNIPL///C1orf56 in blood:Gene expression of CDC42SE1///C1orf56 in blood:Serum ratio of (1,7-dimethylurate)/(caffeine):Years of education:College completion:Diabetic retinopathy in Type 2 diabetes mellitus:Primary rhegmatogenous retinal detachment
1 151288391 2 PI4KB A G exonic synonymous SNV PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D
1 151316161 2 RFX5 G A exonic synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L
1 151740666 2 OAZ3 T C exonic unknown UNKNOWN
1 151867560 2 THEM4 G A exonic synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D
1 151881885 2 THEM4 A C exonic nonsynonymous SNV THEM4:NM_053055:exon1:c.T50G:p.L17R
1 153220360 2
1 154574820 2 ADAR T C exonic nonsynonymous SNV ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G
1 154575040 2 ADAR C T exonic synonymous SNV ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R
1 154919080 2 PBXIP1 C T exonic nonsynonymous SNV PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D RS2061690 Serum creatinine:Body mass index (BMI):Gene expression of DPM3 in liver:Gene expression of PBXIP1 [probeset 207838_x_at] in sputum
1 154987526 2 ZBTB7B C T exonic synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I RS11264295 Methylation levels at chr1:153273828-153273878 [hg18 coord, probe cg21596858] in Temporal cortex:Comorbid depressive syndrome and alcohol dependence
1 154988957 2 ZBTB7B A G exonic synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P
1 155026942 2 ADAM15 A C exonic nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T RS6427128 Irritible bowel syndrome:Arthritis including non-Rheumatoid:Schizophrenia:Differential exon level expression of ADAM15 [probe 2360588] in peripheral blood mononuclear cells:Differential exon level expression of ADAM15 [probe 2360588] in brain cortex:Alzheimer's disease:Serum creatinine:Triglycerides:HDL cholesterol:Gene expression of ADAM15 in blood:Serum ratio of (gamma-glutamylmethionine*)/(succinylcarnitine):Comorbid depressive syndrome and alcohol dependence:Gene expression of CKS1B (ENSG00000173207) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration:Gene expression change of PBXIP1 (ENSG00000163346) in dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of fallot:Gene expression of PBXIP1 (ENSG00000163346) in dendritic cells:Gene expression of EFNA1 (ENSG00000169242) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 155178782 2 MTX1 A T exonic nonsynonymous SNV MTX1:NM_002455:exon1:c.A187T:p.T63S,MTX1:NM_198883:exon1:c.A187T:p.T63S
1 155230131 2 SCAMP3 C T exonic synonymous SNV SCAMP3:NM_052837:exon3:c.G300A:p.G100G,SCAMP3:NM_005698:exon4:c.G378A:p.G126G RS1142287 Glu Cer 24:1 mol %:Gene expression of GBAP1 in normal prepouch ileum:Hypertension (early onset hypertension):Gene expression of PKLR in normal prepouch ileum:Aortic valve calcium
1 155294274 2 RUSC1 A G exonic synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L
1 155408635 2 ASH1L T C exonic nonsynonymous SNV ASH1L:NM_018489:exon5:c.A5311G:p.T1771A
1 155581278 1 MSTO1 C T exonic nonsynonymous SNV MSTO1:NM_001350776:exon5:c.C140T:p.T47M
1 155581311 1 MSTO1 T C exonic nonsynonymous SNV MSTO1:NM_001350776:exon5:c.T173C:p.L58P
1 155658085 2 YY1AP1 T C exonic synonymous SNV YY1AP1:NM_001198903:exon1:c.A171G:p.E57E,YY1AP1:NM_001198904:exon1:c.A171G:p.E57E RS2666826 Body mass index (BMI)
1 155726782 1 GON4L C T exonic synonymous SNV GON4L:NM_001282856:exon27:c.G5484A:p.R1828R,GON4L:NM_001282858:exon27:c.G5484A:p.R1828R,GON4L:NM_001282860:exon27:c.G5484A:p.R1828R
1 155735012 2 GON4L T C exonic nonsynonymous SNV GON4L:NM_001282856:exon21:c.A4252G:p.M1418V,GON4L:NM_001282858:exon21:c.A4252G:p.M1418V,GON4L:NM_001282860:exon21:c.A4252G:p.M1418V,GON4L:NM_001282861:exon21:c.A4252G:p.M1418V,GON4L:NM_032292:exon21:c.A4252G:p.M1418V RS2297775 2 hour glucose:Gene expression of ADAM15 in peripheral blood monocytes:Gene expression of SYT11 in peripheral blood monocytes:Serum magnesium:Waist hip ratio:Body mass index (BMI):Serum concentration of heme*:Obesity with early age of onset (age >2):Birth weight
1 155880573 2 RIT1 C G exonic nonsynonymous SNV RIT1:NM_001256821:exon2:c.G31C:p.E11Q RS493446 LDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol:Advanced age-related macular degeneration:Birth weight
1 156446903 2 MEF2D T C exonic synonymous SNV MEF2D:NM_001271629:exon7:c.A756G:p.P252P,MEF2D:NM_005920:exon7:c.A756G:p.P252P RS2274317 HOMA-B:Fasting insulin:Triglycerides change with statins:Height:Body mass index (BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
1 156450740 2 MEF2D G A exonic synonymous SNV MEF2D:NM_001271629:exon4:c.C282T:p.N94N,MEF2D:NM_005920:exon4:c.C282T:p.N94N RS1925950 HOMA-B:Triglycerides change with statins:Height:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Migraine without aura
1 156499969 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon34:c.A4332G:p.L1444L
1 156526444 2 IQGAP3 T C exonic nonsynonymous SNV IQGAP3:NM_178229:exon12:c.A1171G:p.R391G
1 156532977 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q
1 156536221 2 IQGAP3 G C exonic synonymous SNV IQGAP3:NM_178229:exon3:c.C243G:p.P81P
1 156536251 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon3:c.A213G:p.L71L
1 156561651 2 NAXE G C exonic nonsynonymous SNV NAXE:NM_144772:exon1:c.G55C:p.V19L
1 156563726 2 NAXE A C exonic synonymous SNV NAXE:NM_144772:exon6:c.A717C:p.I239I
1 156563813 2 NAXE G A exonic synonymous SNV NAXE:NM_144772:exon6:c.G804A:p.E268E RS6668178 Serum creatinine:Gene expression of APOA1BP in peripheral blood monocytes:Body mass index (BMI):Gene expression of APOA1BP in normal prepouch ileum:Gene expression of GPATCH4 (probeID ILMN_2383305) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GPATCH4 (probeID ILMN_2383305) in cerebellum in Alzheimer's disease cases and controls
1 156563852 2 NAXE C T exonic synonymous SNV NAXE:NM_144772:exon6:c.C843T:p.T281T
1 156646668 2 NES A G exonic nonsynonymous SNV NES:NM_006617:exon1:c.T389C:p.V130A
1 156705593 2 RRNAD1 G C exonic nonsynonymous SNV RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L
1 156713512 2 HDGF C T exonic synonymous SNV HDGF:NM_001126050:exon5:c.G696A:p.E232E,HDGF:NM_001126051:exon5:c.G627A:p.E209E,HDGF:NM_001319186:exon5:c.G717A:p.E239E,HDGF:NM_001319187:exon5:c.G552A:p.E184E,HDGF:NM_004494:exon5:c.G648A:p.E216E,HDGF:NM_001319188:exon6:c.G552A:p.E184E
1 156907081 2 ARHGEF11 T C exonic nonsynonymous SNV ARHGEF11:NM_014784:exon38:c.A4280G:p.H1427R,ARHGEF11:NM_198236:exon39:c.A4400G:p.H1467R RS945508 Differential exon level expression of ARHGEF11 [probe 2438661] in brain cortex:Methylation levels at chr1:155283095-155283145 [hg18 coord, probe cg14265075] in Caudal pons:Methylation levels at chr1:155283095-155283145 [hg18 coord, probe cg14265075] in Frontal cortex:Height:Tetrology of fallot:Salmonella-induced pyroptosis
1 156907115 2 ARHGEF11 T C exonic nonsynonymous SNV ARHGEF11:NM_014784:exon38:c.A4246G:p.S1416G,ARHGEF11:NM_198236:exon39:c.A4366G:p.S1456G
1 165652273 2 ALDH9A1 A G exonic synonymous SNV ALDH9A1:NM_000696:exon3:c.T402C:p.I134I RS1143659 HOMA-B:Lp-PLA2 mass:Lp-PLA2 activity:Serum ratio of (4-hydroxyphenylacetate)/(inosine)
1 169345868 2 BLZF1 A G exonic nonsynonymous SNV BLZF1:NM_001320972:exon3:c.A119G:p.Q40R,BLZF1:NM_001320973:exon3:c.A119G:p.Q40R,BLZF1:NM_003666:exon3:c.A119G:p.Q40R RS1028180 Height:Diastolic blood pressure (DBP):Aortic valve calcium
1 170501385 2 GORAB A C exonic synonymous SNV GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G
1 171509327 2 PRRC2C G A exonic nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G2716A:p.A906T RS760644 Simpson-Angus Scale
1 171511039 2 PRRC2C C G exonic synonymous SNV PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S RS1687064 Triglycerides:Biploar disorder (bipolar schizoaffective disorder):Triglycerides change with statins:Serum creatinine:Body mass index (BMI)
1 171514731 2 PRRC2C C G exonic nonsynonymous SNV PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C RS235468 Triglycerides change with statins:Serum creatinine:Body mass index (BMI)
1 171526570 2 PRRC2C G A exonic synonymous SNV PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P RS1687057 Simpson-Angus Scale:Triglycerides change with statins:Serum creatinine:Body mass index (BMI):College completion:Years of education
1 171556165 2 PRRC2C G C exonic synonymous SNV PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S RS235501 Simpson-Angus Scale:Triglycerides change with statins:Serum creatinine:Body mass index (BMI):College completion:Years of education
1 171751236 2 METTL13 T C exonic synonymous SNV METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H RS2294720 Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Urinary albumin-to-creatinine ratio:Microalbuminuria:Parkinson's disease
1 171753039 2 METTL13 A G exonic nonsynonymous SNV METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V RS2232816 Schizophrenia:Waist hip ratio:Gene expression of KIAA0859 in blood:Serum ratio of (caproate (6:0))/(glycerol):Bipolar disorder:Refractive error:Parkinson's disease
1 171755170 2 METTL13 G A exonic synonymous SNV METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S RS2232818 Waist hip ratio:Bipolar disorder:Parkinson's disease:Refractive error
1 172411496 2 PIGC A G exonic synonymous SNV PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G RS2230471 Height:Waist hip ratio:Bipolar disorder:Aortic valve calcium
1 179852074 2 TOR1AIP1 T C exonic nonsynonymous SNV TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T RS1281378 Years of education:College completion
1 179887125 2 TOR1AIP1 G A exonic synonymous SNV TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A RS627897 Triglycerides:Differential exon level expression of TOR1AIP2 [probe 2446230] in brain cortex:Differential exon level expression of TOR1AIP1 [probe 2369827] in brain cortex:Gene expression of TMSL8 in peripheral blood monocytes:Height:Serum ratio of (dodecanedioate)/(indolepropionate)
1 180243524 2 LHX4 A G exonic nonsynonymous SNV LHX4:NM_033343:exon6:c.A983G:p.N328S RS7536561 Arthritis including non-Rheumatoid:Triglycerides:Urinary albumin-to-creatinine ratio:Gene expression of QSOX1 in blood:Serum ratio of (3-methylhistidine)/(arabinose):Mitral annular calcium
1 181058313 2 IER5 G A exonic nonsynonymous SNV IER5:NM_016545:exon1:c.G275A:p.R92H
1 182356399 2 GLUL A G exonic synonymous SNV GLUL:NM_001033044:exon3:c.T195C:p.S65S,GLUL:NM_001033056:exon3:c.T195C:p.S65S,GLUL:NM_002065:exon4:c.T195C:p.S65S RS1058111 HDL cholesterol:HDL cholesterol:Obesity with early age of onset (age >2)
1 182850727 2 DHX9 T C exonic synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T
1 183486859 2 SMG7 G A exonic synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L RS789169 Waist hip ratio
1 184020945 2 TSEN15 G A exonic nonsynonymous SNV TSEN15:NM_001127394:exon1:c.G56A:p.G19D,TSEN15:NM_001300764:exon1:c.G56A:p.G19D,TSEN15:NM_001300766:exon1:c.G56A:p.G19D,TSEN15:NM_052965:exon1:c.G56A:p.G19D RS2274432 Height:Height:LDL cholesterol:Premature ovarian failure:Height:Height:Height:Height (adults):HDL cholesterol:Height:Waist hip ratio:C1orf19 gene expression in omental adipose tissue:Gene expression of TSEN15 in blood:Gene expression of GLT25D2 in blood:Myopia
1 184023529 2 TSEN15 A C exonic nonsynonymous SNV TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_001300764:exon2:c.A177C:p.Q59H,TSEN15:NM_001300766:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H RS1046934 Height:Gene expression of C1orf19 in liver:LDL cholesterol:Premature ovarian failure:HDL cholesterol:Height:Gene expression:Waist hip ratio:Gene expression of GLT25D2 in blood:Gene expression of TSEN15 in blood:Serum ratio of (lathosterol)/(scyllo-inositol):Height:Height:Height:Myopia
1 196642233 2 CFH G A exonic nonsynonymous SNV CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I RS800292 HDL cholesterol change with statins:Lp-PLA2 mass:Age-related macular degeneration:Serum concentration of HWESASXX*:Serum concentration of stachydrine:Exudative age-related macular degeneration:Systolic blood pressure (SBP):Age-related macular degeneration:Sporadic Creutzfeldt-Jakob disease:Age-related macular degeneration in never smokers:Refractive error:Age-related macular degeneration (Stage 5 ARMD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of KCNT2 (ENSG00000162687) in dendritic cells after treatment with Mycobacterium tuberculosis:Age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Factor XIII B subunit:Gene expression of KCNT2 (ENSG00000162687) in dendritic cells treated with Mycobacterium tuberculosis:Age-related macular degeneration:Factor XIII A subunit:Advanced age-related macular degeneration:Age-related macular degeneration in ever smokers:Serum myeloperoxidase levels:Serum C3a-desArg
1 196654324 2 CFH A C exonic synonymous SNV CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A RS1061147 HDL cholesterol:Meningococcal disease:Bipolar disorder:Advanced age-related macular degeneration (geographic atrophy):Refractive error:Age-related macular degeneration:Age-related macular degeneration:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2)
1 196659237 2 CFH C T exonic nonsynonymous SNV CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y RS1061170 HDL cholesterol:Age-related macular degeneration:Advanced age-related macular degeneration:Age-related macular degeneration:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Serum myeloperoxidase levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (choroidal neovascularization):Advanced age-related macular degeneration (geographic atrophy)
1 197009798 2 F13B A G exonic synonymous SNV F13B:NM_001994:exon11:c.T1806C:p.N602N RS5998 LDL cholesterol:HDL cholesterol:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Erectile dysfunction in Type 1 diabetes:Advanced age-related macular degeneration:Adiponectin levels:Factor XIII B subunit:Factor XIII A subunit
1 197031021 2 F13B C T exonic nonsynonymous SNV F13B:NM_001994:exon3:c.G344A:p.R115H RS6003 Age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Tetrology of fallot:Obesity with early age of onset (age >2)
1 197070815 2 ASPM T C exonic synonymous SNV ASPM:NM_018136:exon18:c.A7566G:p.L2522L RS1412640 Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy):Years of education
1 197070901 2 ASPM A G exonic nonsynonymous SNV ASPM:NM_018136:exon18:c.T7480C:p.Y2494H
1 197091537 2 ASPM A T exonic synonymous SNV ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S RS4915337 Age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2):Advanced age-related macular degeneration
1 197112533 2 ASPM G A exonic synonymous SNV ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S RS6677082 Age-related macular degeneration:Advanced age-related macular degeneration:Years of education:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 200618238 2 DDX59 T C exonic synonymous SNV DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S RS6665604 Arthritis including non-Rheumatoid:Cystatin C in serum:Serum concentration of lathosterol
1 200880978 2 C1orf106 C T exonic nonsynonymous SNV C1orf106:NM_001142569:exon9:c.C1357T:p.R453C,C1orf106:NM_018265:exon9:c.C1654T:p.R552C
1 201112981 2 TMEM9 A G exonic synonymous SNV TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y RS8158 HOMA-IR:Lp-PLA2 mass:Gene expression of TMEM9 in peripheral blood monocytes:Triglycerides:Serum ratio of (dehydroisoandrosterone sulfate (DHEA-S))/(riboflavin (Vitamin B2)):Bipolar disorder:Aortic valve calcium
1 201860626 2 SHISA4 A G exonic nonsynonymous SNV SHISA4:NM_198149:exon4:c.A477G:p.I159M RS2250377 2 hour glucose:Chronic kidney disease:Body mass index (BMI):Serum ratio of (1-palmitoylglycerophosphoinositol*)/(nonadecanoate (19:0)):Hypertension (early onset hypertension):Breast size (bra cup size in women):Years of education:Diabetic retinopathy in Type 2 diabetes mellitus
1 201970562 2 RNPEP T C exonic synonymous SNV RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V
1 202705455 2 KDM5B G C exonic synonymous SNV KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P RS1141109 Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:Serum ratio of (1-heptadecanoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Transmission distortion:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight
1 202715284 2 KDM5B G A exonic synonymous SNV KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y RS1141108 Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:LDL cholesterol change with statins:Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus
1 202718202 2 KDM5B G A exonic synonymous SNV KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H RS1892164 Fasting blood glucose:Triglycerides change with statins:Total cholesterol change with statins
1 202733238 2 KDM5B C T exonic synonymous SNV KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T RS3196669 Schizophrenia:Premature ovarian failure:Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:LDL cholesterol change with statins:Pulse pressure:Gene expression of CYB5R1 in blood:Serum ratio of (cysteine-glutathione disulfide)/(stearoylcarnitine):Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus
1 203652444 2 ATP2B4 A G exonic synonymous SNV ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S RS1419114 Gene expression of ATP2B4 in blood:Serum ratio of (alpha-tocopherol)/(phenyllactate (PLA)):Mean corpuscular hemoglobin concentration (MCHC):Mean corpuscular volume (MCV)
1 203667409 2 ATP2B4 T C exonic synonymous SNV ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L RS2228445 Triglycerides:Mean corpuscular hemoglobin concentration (MCHC)
1 204199614 2 PLEKHA6 C T exonic nonsynonymous SNV PLEKHA6:NM_014935:exon18:c.G2510A:p.R837K RS10900562 Simpson-Angus Scale:LDL cholesterol:Total cholesterol
1 204237416 2 PLEKHA6 C T exonic nonsynonymous SNV PLEKHA6:NM_014935:exon4:c.G127A:p.V43I RS10900571 Barnes Akathisia Rating Scale:Bipolar disorder
1 204379617 2 PPP1R15B T C exonic nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A923G:p.N308S RS3014626 Barnes Akathisia Rating Scale
1 204438334 2 PIK3C2B C T exonic synonymous SNV PIK3C2B:NM_002646:exon3:c.G597A:p.P199P RS1124777 HIV-1 disease progression:Total cholesterol:LDL cholesterol:Age at menarche
1 204438643 2 PIK3C2B G T exonic synonymous SNV PIK3C2B:NM_002646:exon3:c.C288A:p.L96L RS1553921 HIV-1 disease progression:Total cholesterol:LDL cholesterol:Age at menarche:Adiponectin levels
1 205052939 2 TMEM81 G A exonic synonymous SNV TMEM81:NM_203376:exon1:c.C510T:p.L170L RS4950979 Waist hip ratio
1 205053219 2 TMEM81 C T exonic nonsynonymous SNV TMEM81:NM_203376:exon1:c.G230A:p.R77Q RS4951168 Gene expression of RIPK5 in peripheral blood monocytes:Waist hip ratio:Serum ratio of (trigonelline (N'-methylnicotinate))/(ursodeoxycholate)
1 205130413 2 DSTYK A G exonic nonsynonymous SNV DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R RS3851294 Waist hip ratio:Serum ratio of (gamma-glutamylthreonine*)/(trans-4-hydroxyproline)
1 205492756 2 CDK18 A G exonic synonymous SNV CDK18:NM_212503:exon3:c.A276G:p.V92V RS7529442 Triglycerides:Urinary albumin-to-creatinine ratio:PROP taste detection threshold:Refractive error
1 205779231 2 SLC41A1 G A exonic synonymous SNV SLC41A1:NM_173854:exon2:c.C339T:p.T113T RS11240569 Methylation levels at chr1:204085802-204085852 [hg18 coord, probe cg14159672] in Temporal cortex:Methylation levels at chr1:204085802-204085852 [hg18 coord, probe cg14159672] in Caudal pons:Adiponectin levels
1 206516261 1 SRGAP2 C T exonic unknown UNKNOWN
1 206647742 2 IKBKE A G exonic synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q
1 206647787 2 IKBKE T C exonic synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I RS1539243 Arthritis including non-Rheumatoid:Gene expression of IKBKE in peripheral blood monocytes:Autism:Body mass index (BMI):Gene expression of IKBKE///C1orf147 in blood:Gene expression of [probe 3130152 centered at chr1:204744311] in blood:Serum concentration of pantothenate:Coronary artery disease (CAD)
1 207195779 2 C1orf116 A G exonic nonsynonymous SNV C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P RS2842726 Serum creatinine:Total cholesterol:Triglycerides:Refractive error
1 209799253 2 LAMB3 A G exonic synonymous SNV LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C
1 212273639 2 DTL C T exonic nonsynonymous SNV DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V RS3135474 Aortic valve calcium
1 212274413 2 DTL A C exonic nonsynonymous SNV DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T RS6540718 Rheumatoid arthritis:Waist hip ratio
1 212560327 2 TMEM206 A G exonic synonymous SNV TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F
1 212900487 2 NSL1 A G exonic synonymous SNV NSL1:NM_001297739:exon5:c.T534C:p.V178V RS2244935 LDL cholesterol:HDL cholesterol:HDL cholesterol change with statins:Autism:Late onset Alzheimer's disease:Rheumatoid arthritis:Gene expression of ENST00000356684 in blood:Gene expression of NSL1 in blood:Serum ratio of (10-heptadecenoate (17:1n7))/(dihomo-linoleate (20:2n6)):Comorbid depressive syndrome and alcohol dependence
1 213068595 2 FLVCR1 C T exonic nonsynonymous SNV FLVCR1:NM_014053:exon10:c.C1631T:p.T544M RS3207090 Gene expression of LQK1 [probe 235126_at] in lymphoblastoid cell lines:Eye color:Stabilized warfarin dose:HDL cholesterol:Gene expression of FLVCR1 in peripheral blood monocytes:Gene expression of NSL1 in peripheral blood monocytes:HDL cholesterol:Gene expression of LOC149643 in CD4+ lymphocytes:Gene expression of FLVCR1 in blood:Gene expression of ENST00000356684 in blood:Gene expression of NSL1 in blood:Serum ratio of (7-methylxanthine)/(gamma-tocopherol):Gene expression of LQK1 [probeset 235126_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of NSL1 in normal prepouch ileum:Gene expression of FLVCR1-AS1 in normal prepouch ileum
1 214826196 2 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon16:c.G8186A:p.R2729Q RS335524 Stabilized warfarin dose:Longstanding arthritis:Height:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight
1 214830617 2 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G RS438034 Neuroblastoma (brain cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy (progression free survival):Serum ratio of (3-phenylpropionate (hydrocinnamate))/(androsterone sulfate):Topiramate plasma level change in healthy volunteers in response to topiramate treatment:Multiple myeloma:Birth weight:Adiponectin levels
1 214837110 2 CENPF C G exonic nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K RS7289 Lp-PLA2 mass:Birth weight:Adiponectin levels
1 219383905 2 LYPLAL1 A G exonic nonsynonymous SNV LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M
1 220197625 2 EPRS G T exonic nonsynonymous SNV EPRS:NM_004446:exon8:c.C924A:p.D308E RS2230301 Stabilized warfarin dose:Triglycerides:Differential exon level expression of EPRS [probe 2456787] in peripheral blood mononuclear cells:Differential exon level expression of EPRS [probe 2456787] in brain cortex:Aortic valve calcium:Amyotrophic lateral sclerosis (ALS) age of onset:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
1 222802006 2 MIA3 A G exonic nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E
1 222833601 2 MIA3 T C exonic synonymous SNV MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P
1 223900408 2 CAPN2 C G exonic nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E
1 224495852 2 NVL C T exonic synonymous SNV NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R RS7534447 HDL cholesterol
1 225607144 2 LBR C T exonic nonsynonymous SNV LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N RS2230419 Rheumatoid arthritis
1 225609884 2 LBR A G exonic synonymous SNV LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P RS1056608 Serum creatinine:Diabetic retinopathy in Type 2 diabetes mellitus
1 225974581 1 SRP9 A G exonic synonymous SNV SRP9:NM_001130440:exon3:c.A159G:p.L53L
1 225974614 1 SRP9 A G exonic nonsynonymous SNV SRP9:NM_001130440:exon3:c.A192G:p.I64M
1 225974645 1 SRP9 A G exonic nonsynonymous SNV SRP9:NM_001130440:exon3:c.A223G:p.S75G
1 227182033 2 CDC42BPA G A exonic nonsynonymous SNV CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V RS2802269 Triglycerides:Adiponectin levels
1 228588680 2 TRIM11 A C exonic synonymous SNV TRIM11:NM_145214:exon3:c.T720G:p.A240A
1 229738170 2 TAF5L T G exonic synonymous SNV TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R RS3753886 Neuroticism:Lp-PLA2 activity:Salmonella-induced pyroptosis:Acute lung injury following major trauma
1 229738236 2 TAF5L G A exonic synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P RS4925500 Serum ratio of (1-heptadecanoylglycerophosphocholine)/(allantoin)
1 229772693 2 URB2 T G exonic nonsynonymous SNV URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G RS3811473 Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of TAF5L in blood cells in Celiac disease:Gene expression of KIAA0133 in blood:Gene expression of [probe Human_RefSeq-8_v2-6270750 centered at chr1:227801787] in blood:Serum concentration of 1-stearoylglycerol (1-monostearin):Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Acute lung injury following major trauma
1 229772932 2 URB2 A G exonic nonsynonymous SNV URB2:NM_001314021:exon4:c.A2572G:p.K858E,URB2:NM_014777:exon4:c.A2572G:p.K858E RS3811474 Transmission distortion:Parkinson's disease
1 229773441 2 URB2 C T exonic synonymous SNV URB2:NM_001314021:exon4:c.C3081T:p.T1027T,URB2:NM_014777:exon4:c.C3081T:p.T1027T
1 229790048 2 URB2 A G exonic synonymous SNV URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R RS7521953 Total cholesterol:Lp-PLA2 activity:Serum concentration of scyllo-inositol:Acute lung injury following major trauma:Salmonella-induced pyroptosis
1 230841687 2 AGT T C exonic synonymous SNV AGT:NM_000029:exon3:c.A1116G:p.L372L
1 231042732 2 TTC13 T A exonic synonymous SNV TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V RS3811502 2 hour glucose:HOMA-B:HOMA-IR:Fasting insulin:LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease
1 235652513 2 B3GALNT2 T C exonic synonymous SNV B3GALNT2:NM_152490:exon3:c.A321G:p.E107E,B3GALNT2:NM_001277155:exon4:c.A444G:p.E148E RS291396 LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Height:College completion:Parkinson's disease:Years of education
1 235715523 2 GNG4 A G exonic synonymous SNV GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A RS14326 Comorbid depressive syndrome and alcohol dependence:College completion:Years of education
1 236208773 2 NID1 C T exonic nonsynonymous SNV NID1:NM_002508:exon3:c.G736A:p.V246I RS10733133 Triglycerides:HDL cholesterol:Lp-PLA2 mass:Body mass index (BMI):Refractive error:Advanced age-related macular degeneration (geographic atrophy)
1 236381825 2 ERO1B G C exonic nonsynonymous SNV ERO1B:NM_019891:exon16:c.C1395G:p.H465Q RS1055851 Gene expression of ERO1LB [probe 220012_at] in lymphoblastoid cell lines
1 236702210 2 LGALS8 A G exonic nonsynonymous SNV LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V
1 236719135 2 HEATR1 T C exonic synonymous SNV HEATR1:NM_018072:exon39:c.A5619G:p.E1873E
1 236721610 2 HEATR1 G A exonic synonymous SNV HEATR1:NM_018072:exon36:c.C5131T:p.L1711L RS2275688 Triglycerides:HDL cholesterol change with statins:College completion:Years of education:Salmonella-induced pyroptosis
1 236721660 2 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon36:c.A5081G:p.N1694S RS2275689 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:HDL cholesterol change with statins:Total cholesterol:Asthma:Transmission distortion:Salmonella-induced pyroptosis:College completion:Years of education
1 236721731 2 HEATR1 T C exonic synonymous SNV HEATR1:NM_018072:exon36:c.A5010G:p.A1670A
1 236746443 2 HEATR1 C T exonic synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V RS2794768 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection threshold:Years of education:Salmonella-induced pyroptosis:College completion
1 236748505 2 HEATR1 T C exonic synonymous SNV HEATR1:NM_018072:exon17:c.A2061G:p.L687L RS1006456 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:Years of education:College completion
1 236755837 2 HEATR1 C T exonic synonymous SNV HEATR1:NM_018072:exon10:c.G1290A:p.R430R RS2564739 LDL cholesterol:HDL cholesterol change with statins:PROP taste detection threshold:College completion:Years of education
1 236758887 2 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon8:c.A1043G:p.H348R RS2794751 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:Asthma:PROP taste detection threshold:College completion:Transmission distortion:Salmonella-induced pyroptosis:Years of education:Paternal transmission distortion
1 236767330 2 HEATR1 A G exonic synonymous SNV HEATR1:NM_018072:exon2:c.T66C:p.S22S RS10802551 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol change with statins:HDL cholesterol:Total cholesterol:Years of education:College completion:Obesity with early age of onset (age >2)
1 242030151 2 EXO1 A G exonic nonsynonymous SNV EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_001319224:exon10:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R RS735943 LDL cholesterol:Late onset Alzheimer's disease:Serum concentration of 1-palmitoylglycerophosphoinositol*:Serum concentration of succinylcarnitine:Age at death with kuru exposure:Variant Creutzfeldt-Jakob disease
1 242042545 2 EXO1 A G exonic nonsynonymous SNV EXO1:NM_003686:exon11:c.A2009G:p.E670G,EXO1:NM_006027:exon11:c.A2009G:p.E670G,EXO1:NM_001319224:exon12:c.A2006G:p.E669G,EXO1:NM_130398:exon13:c.A2009G:p.E670G RS1776148 Hip bone mineral density (BMD):Schizophrenia:Sporadic amyotrophic lateral sclerosis (ALS):Sporadic amyotrophic lateral sclerosis (ALS):Resistance to kuru in aged women despite likely exposure:College completion:Amyotrophic lateral sclerosis (ALS)
1 242045275 2 EXO1 C T exonic nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C
1 246720798 2 TFB2M G A exonic synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I
1 246755124 2 CNST T C exonic nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S RS6702823 Stabilized warfarin dose:2 hour glucose:Rheumatoid arthritis:Serum ratio of (2-stearoylglycerophosphocholine*)/(alpha-ketoglutarate):Maternal transmission distortion:Parkinson's disease:Coronary artery disease (CAD):Tetrology of fallot
1 247150740 2 ZNF695 T C exonic synonymous SNV ZNF695:NM_020394:exon4:c.A1077G:p.K359K RS3749427 LDL cholesterol:Cystatin C in serum:Gene expression of ZNF670 in normal prepouch ileum
1 247162658 2 ZNF695 C T exonic nonsynonymous SNV ZNF695:NM_001204221:exon3:c.G251A:p.R84K,ZNF695:NM_020394:exon3:c.G251A:p.R84K RS2642973 Cystatin C in serum:Sporadic Creutzfeldt-Jakob disease
2 6995315 2
2 7154632 2 RNF144A T C exonic synonymous SNV RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T
2 8870862 1 KIDINS220 T C exonic synonymous SNV KIDINS220:NM_001348734:exon28:c.A5136G:p.E1712E,KIDINS220:NM_001348735:exon28:c.A5133G:p.E1711E,KIDINS220:NM_001348731:exon29:c.A5250G:p.E1750E,KIDINS220:NM_001348732:exon29:c.A5247G:p.E1749E,KIDINS220:NM_001348736:exon29:c.A5007G:p.E1669E,KIDINS220:NM_001348729:exon30:c.A5307G:p.E1769E,KIDINS220:NM_020738:exon30:c.A5304G:p.E1768E
2 10045014 2 TAF1B C T exonic synonymous SNV TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y RS400917 Refractive error
2 10045024 2 TAF1B G A exonic nonsynonymous SNV TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I
2 10050947 2 TAF1B T C exonic synonymous SNV TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A RS1054561 HDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of TAF1B in normal prepouch ileum
2 10050960 2 TAF1B A G exonic nonsynonymous SNV TAF1B:NM_001318977:exon9:c.A286G:p.T96A,TAF1B:NM_001318976:exon10:c.A286G:p.T96A,TAF1B:NM_005680:exon10:c.A1051G:p.T351A RS1054565 Differential exon level expression of TAF1B [probe 2469139] in brain cortex:Differential exon level expression of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Total cholesterol change with statins:HDL cholesterol change with statins:Serum concentration of glucose:Hypertension (early onset hypertension)
2 10059770 2 TAF1B G T exonic nonsynonymous SNV TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D RS1820965 Differential exon level expression of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Differential exon level expression of TAF1B [probe 2469139] in brain cortex:Total cholesterol change with statins:Gene expression of KLF11 in blood:Gene expression of TAF1B in blood:Age at death with kuru exposure:Hypertension (early onset hypertension):Adiponectin levels:Gene expression of TAF1B in normal prepouch ileum:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
2 10717806 1 NOL10 C T exonic nonsynonymous SNV NOL10:NM_001261392:exon19:c.G1825A:p.D609N,NOL10:NM_001261394:exon19:c.G1753A:p.D585N,NOL10:NM_024894:exon20:c.G1903A:p.D635N RS2287059 Serum ratio of (p-cresol sulfate)/(pyroglutamylglycine):Serum ratio of (lathosterol)/(threonate):College completion
2 11702661 2 GREB1 A C exonic nonsynonymous SNV GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T RS10929757 Gene expression of GREB1 [probe 2469825] in brain cortex:Differential exon level expression of GREB1 [probe 2469866] in brain cortex:Premature ovarian failure:Abnormal Involuntary Movement Scale:Total cholesterol:Serum creatinine:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment
2 11752635 2 GREB1 T C exonic synonymous SNV GREB1:NM_014668:exon19:c.T3021C:p.I1007I
2 15747393 2 DDX1 C T exonic synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N RS10929378 Serum creatinine:College completion
2 17942775 2 GEN1 T A exonic nonsynonymous SNV GEN1:NM_001130009:exon3:c.T274A:p.S92T,GEN1:NM_182625:exon3:c.T274A:p.S92T RS1812152 Gene expression change of GEN1 (ENSG00000178295) in dendritic cells after treatment with Mycobacterium tuberculosis
2 17954027 2 GEN1 G A exonic nonsynonymous SNV GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N
2 17962450 2 GEN1 A G exonic synonymous SNV GEN1:NM_001130009:exon14:c.A1971G:p.E657E,GEN1:NM_182625:exon14:c.A1971G:p.E657E RS300168 Gene expression of HSS00374044 in liver:LDL cholesterol change with statins:Cystatin C in serum:Gene expression of GEN1 in normal prepouch ileum:Gene expression of GEN1 (probeID ILMN_2206282) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GEN1 (probeID ILMN_2206282) in cerebellum in Alzheimer's disease cases and controls:Adiponectin levels
2 17962518 2 GEN1 C T exonic nonsynonymous SNV GEN1:NM_001130009:exon14:c.C2039T:p.T680I,GEN1:NM_182625:exon14:c.C2039T:p.T680I RS300169 Primary rhegmatogenous retinal detachment:Maternal transmission distortion
2 20135283 2 WDR35 T C exonic synonymous SNV WDR35:NM_020779:exon21:c.A2496G:p.E832E,WDR35:NM_001006657:exon22:c.A2529G:p.E843E RS6741091 Serum creatinine
2 20205680 2 MATN3 C T exonic synonymous SNV MATN3:NM_002381:exon2:c.G615A:p.E205E
2 20205848 2 MATN3 G A exonic synonymous SNV MATN3:NM_002381:exon2:c.C447T:p.A149A
2 20403794 2 SDC1 A T exonic nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q
2 20823724 2 HS1BP3 T C exonic synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P
2 20824559 2 HS1BP3 C T exonic synonymous SNV HS1BP3:NM_022460:exon5:c.G717A:p.E239E RS2305457 HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Bipolar disorder
2 20838318 2 HS1BP3 G A exonic synonymous SNV HS1BP3:NM_022460:exon4:c.C501T:p.F167F RS3796064 HDL cholesterol:Serum concentration of thymol sulfate
2 21235475 2 APOB T C exonic nonsynonymous SNV APOB:NM_000384:exon26:c.A4265G:p.Y1422C
2 24108652 2 ATAD2B T C exonic nonsynonymous SNV ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R
2 24384424 2 FAM228B T C exonic unknown UNKNOWN RS4665667 Total cholesterol:Microalbuminuria:Years of education
2 24905927 2 NCOA1 G C exonic synonymous SNV NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T RS11125744 Cystatin C in serum:Height:Parkinson's disease
2 24929851 1 NCOA1 A T exonic synonymous SNV NCOA1:NM_003743:exon11:c.A1512T:p.P504P,NCOA1:NM_147223:exon11:c.A1512T:p.P504P,NCOA1:NM_147233:exon11:c.A1512T:p.P504P RS3731628 Fasting blood glucose:HOMA-B:Serum creatinine:Urinary albumin-to-creatinine ratio:Microalbuminuria
2 24974945 2 NCOA1 T G exonic synonymous SNV NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L RS11125763 Cystatin C in serum:Triglycerides:Height:Body mass index (BMI):Mitral annular calcium
2 25050977 2 ADCY3 T C exonic synonymous SNV ADCY3:NM_001320613:exon14:c.A2226G:p.E742E,ADCY3:NM_004036:exon14:c.A2226G:p.E742E
2 26203678 2 KIF3C T C exonic nonsynonymous SNV KIF3C:NM_002254:exon1:c.A1109G:p.Q370R
2 26590084 1 SELENOI T G exonic unknown UNKNOWN RS6748996 HDL cholesterol:Chronic kidney disease:HDL cholesterol:LDL cholesterol:Microalbuminuria:Aortic valve calcium
2 27169842 1 DPYSL5 C A exonic synonymous SNV DPYSL5:NM_001253723:exon13:c.C1674A:p.G558G,DPYSL5:NM_001253724:exon13:c.C1674A:p.G558G,DPYSL5:NM_020134:exon13:c.C1674A:p.G558G RS11126784 HDL cholesterol:Fasting blood glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Bipolar disorder:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 27246285 2 MAPRE3 C T exonic synonymous SNV MAPRE3:NM_001303050:exon3:c.C207T:p.H69H,MAPRE3:NM_012326:exon3:c.C207T:p.H69H RS10865456 Diabetic retinopathy in Type 2 diabetes mellitus
2 27260469 1 TMEM214 G A exonic nonsynonymous SNV TMEM214:NM_001083590:exon8:c.G916A:p.V306M,TMEM214:NM_017727:exon9:c.G1051A:p.V351M RS1124649 HDL cholesterol:Schizophrenia:Fasting blood glucose:LDL cholesterol:HDL cholesterol:Gene expression of [probe 2850546 centered at chr2:27126125] in blood:Gene expression of KHK in blood:Gene expression of KHK///CGREF1 in blood:Serum ratio of (gamma-glutamylthreonine*)/(myo-inositol):Diastolic blood pressure (DBP):Bipolar disorder:Gene expression of MAPRE3 (ENSG00000084764) in dendritic cells:Fasting blood glucose:Gene expression change of PREB (ENSG00000138073) in dendritic cells after treatment with Mycobacterium tuberculosis
2 27315252 1 KHK G A exonic nonsynonymous SNV KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I RS2304681 HDL cholesterol:Fasting blood glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Gene expression of KHK in CD4+ lymphocytes:Gene expression of KHK///CGREF1 in blood:Gene expression of KHK in blood:Bipolar disorder:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
2 27424636 1 SLC5A6 G A exonic nonsynonymous SNV SLC5A6:NM_021095:exon14:c.C1442T:p.S481F RS1395 Triglycerides:Fasting blood glucose:Total cholesterol:Serum creatinine:Total cholesterol:Triglycerides:Waist hip ratio:Atopy:Allergic rhinitis:Gene expression of SLC5A6///C2orf28 in blood:Gene expression of C2orf28 in blood:Gene expression of SLC5A6 in blood:Variant Creutzfeldt-Jakob disease:Crohn's disease:Gene expression of SLC5A6 in normal prepouch ileum:Serum urate:Gene expression of C2orf28 in normal prepouch ileum
2 27428295 2 SLC5A6 A G exonic synonymous SNV SLC5A6:NM_021095:exon7:c.T657C:p.I219I
2 27435250 2 ATRAID A G exonic nonsynonymous SNV ATRAID:NM_001170795:exon1:c.A14G:p.D5G,ATRAID:NM_080592:exon1:c.A179G:p.D60G
2 27440785 2 CAD C T exonic synonymous SNV CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T
2 27462076 1 CAD C T exonic synonymous SNV CAD:NM_001306079:exon31:c.C5040T:p.P1680P,CAD:NM_004341:exon32:c.C5229T:p.P1743P RS3739092 Triglycerides:Fasting blood glucose:Total cholesterol:Triglycerides:Waist hip ratio
2 27550967 1 GTF3C2 A G exonic synonymous SNV GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P RS1049817 Triglycerides:Triglycerides:Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides change with statins:Serum creatinine:Triglycerides:Total cholesterol:Height:Serum urate:Waist hip ratio:Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy):Gene expression of SLC5A6 in normal prepouch ileum:Adiponectin levels:Triglycerides:Serum urate:Gene expression of NRBP1 in normal prepouch ileum
2 27676287 1 IFT172 A T exonic synonymous SNV IFT172:NM_015662:exon35:c.T3915A:p.S1305S
2 29001691 1 PPP1CB A G exonic synonymous SNV PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q RS1128416 Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of WDR43 (ENSG00000163811) in dendritic cells treated with Mycobacterium tuberculosis:College completion:Gene expression of PPP1CB (ENSG00000213639) in dendritic cells:Years of education
2 29092679 1 TRMT61B T C exonic synonymous SNV TRMT61B:NM_017910:exon1:c.A465G:p.E155E RS4233729 HDL cholesterol:Fasting insulin:HOMA-IR:Fasting blood glucose:Triglycerides:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Years of education:College completion
2 29092850 1 TRMT61B G T exonic synonymous SNV TRMT61B:NM_017910:exon1:c.C294A:p.S98S RS4666122 Gene expression of probe 228222_at in lymphoblastoid cell lines:HDL cholesterol:Fasting insulin:HOMA-IR:Fasting blood glucose:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:College completion:Years of education:Gene expression of TRMT61B in normal prepouch ileum
2 29129418 1 WDR43 A G exonic synonymous SNV WDR43:NM_015131:exon3:c.A456G:p.E152E RS11688605 Fasting insulin:HOMA-IR:Cystatin C in serum:Gene expression of PPP1CB in peripheral blood monocytes:Triglycerides:Waist hip ratio:Body mass index (BMI):Years of education:Gene expression change of FAM179A (ENSG00000189350) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of FAM179A (ENSG00000189350) in dendritic cells
2 32667182 2 BIRC6 G C exonic nonsynonymous SNV BIRC6:NM_016252:exon18:c.G3994C:p.V1332L
2 32855615 2 TTC27 A G exonic synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L
2 33585796 2 LTBP1 T C exonic nonsynonymous SNV LTBP1:NM_001166264:exon22:c.T3029C:p.V1010A,LTBP1:NM_001166266:exon22:c.T2870C:p.V957A,LTBP1:NM_000627:exon23:c.T3155C:p.V1052A,LTBP1:NM_001166265:exon23:c.T2996C:p.V999A,LTBP1:NM_206943:exon27:c.T4133C:p.V1378A
2 36825137 2 FEZ2 G A exonic nonsynonymous SNV FEZ2:NM_001042548:exon1:c.C149T:p.P50L,FEZ2:NM_005102:exon1:c.C149T:p.P50L
2 37230728 1 HEATR5B T C exonic synonymous SNV HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V RS1007823 Longstanding arthritis:Rheumatoid arthritis:Arthritis including non-Rheumatoid:2 hour glucose:HDL cholesterol:LDL cholesterol change with statins:Triglycerides:Kawasaki disease:Tetrology of fallot:Birth weight
2 37241050 1 HEATR5B G A exonic synonymous SNV HEATR5B:NM_019024:exon27:c.C4218T:p.S1406S
2 37306343 2 HEATR5B G A exonic synonymous SNV HEATR5B:NM_019024:exon3:c.C258T:p.F86F
2 37456032 2 CEBPZ C T exonic nonsynonymous SNV CEBPZ:NM_005760:exon2:c.G304A:p.V102I RS2098386 Body mass index (BMI):Gene expression of EIF2AK2///CEBPZ///AC007390.5 in blood:Systolic blood pressure (SBP)
2 39025555 1 DHX57 G A exonic synonymous SNV DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C RS1530853 Rheumatoid arthritis:HDL cholesterol:Differential exon level expression of GALM [probe 2477960] in peripheral blood mononuclear cells:Gene expression of GALM in blood:Parkinson's disease
2 39082344 1 DHX57 T C exonic nonsynonymous SNV DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S RS7598922 Rheumatoid arthritis:Arthritis including non-Rheumatoid:Longstanding arthritis:Schizophrenia:Cystatin C in serum:Gene expression of GALM in blood:Gene expression of GEMIN6 in blood:Serum ratio of (myristate (14:0))/(palmitate (16:0)):Parkinson's disease
2 39583446 2 MAP4K3 A G exonic synonymous SNV MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I RS8545 Serum creatinine:Gene expression of MORN2 in peripheral blood monocytes:Microalbuminuria:Serum concentration of serotonin (5HT):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Bipolar disorder:Salmonella-induced pyroptosis
2 42510018 2 EML4 A G exonic nonsynonymous SNV EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E
2 43452183 1 ZFP36L2 A G exonic synonymous SNV ZFP36L2:NM_006887:exon2:c.T760C:p.L254L RS7933 Fasting blood glucose:LDL cholesterol:Total cholesterol:HDL cholesterol change with statins:Serum creatinine:Waist hip ratio
2 43797619 1 THADA C T exonic nonsynonymous SNV THADA:NM_001083953:exon14:c.G2095A:p.V699I,THADA:NM_001271643:exon14:c.G2095A:p.V699I,THADA:NM_001271644:exon14:c.G2095A:p.V699I,THADA:NM_001345923:exon14:c.G2095A:p.V699I,THADA:NM_001345924:exon14:c.G1975A:p.V659I,THADA:NM_022065:exon14:c.G2095A:p.V699I,THADA:NM_001345925:exon15:c.G2095A:p.V699I RS17031056 HDL cholesterol:Simpson-Angus Scale:Advanced age-related macular degeneration (geographic atrophy)
2 46618321 2
2 47601106 2 EPCAM T C exonic nonsynonymous SNV EPCAM:NM_002354:exon3:c.T344C:p.M115T RS1126497 Asthma:Gene expression of KCNK12 in blood:Serum ratio of (cysteine-glutathione disulfide)/(pyridoxate):Infant head circumference:Birth weight
2 48751471 2
2 55407754 2 CLHC1 C T exonic nonsynonymous SNV CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I RS6716066 Triglycerides:Diastolic blood pressure (DBP)
2 55470115 2 MTIF2 C T exonic nonsynonymous SNV MTIF2:NM_001321004:exon12:c.G1666A:p.V556I,MTIF2:NM_001321005:exon12:c.G937A:p.V313I,MTIF2:NM_001321001:exon13:c.G1666A:p.V556I,MTIF2:NM_001321002:exon13:c.G1666A:p.V556I,MTIF2:NM_002453:exon13:c.G1666A:p.V556I,MTIF2:NM_001005369:exon14:c.G1666A:p.V556I,MTIF2:NM_001321003:exon14:c.G1666A:p.V556I RS11357 Triglycerides:Total cholesterol:Advanced age-related macular degeneration:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 55490819 2 MTIF2 G T exonic nonsynonymous SNV MTIF2:NM_001321004:exon3:c.C176A:p.T59N,MTIF2:NM_001321001:exon4:c.C176A:p.T59N,MTIF2:NM_001321002:exon4:c.C176A:p.T59N,MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N,MTIF2:NM_001321003:exon5:c.C176A:p.T59N RS1056445 Gene expression of C2orf63 [probe 228316_at] in lymphoblastoid cell lines:Psoriasis:Hip bone mineral density (BMD):Differential exon level expression of C2orf63 [probe 2553701] in peripheral blood mononuclear cells:Differential exon level expression of C2orf63 [probe 2553702] in peripheral blood mononuclear cells:Differential exon level expression of C2orf63 [probe 2553703] in peripheral blood mononuclear cells:Gene expression of C2orf63 [probe 2553682] in peripheral blood mononuclear cells:Gene expression of C2orf63 in CD4+ lymphocytes:Gene expression of MTIF2 [transcript NM_002453, probe A_23_P40072] in liver:Gene expression of C2orf63 in blood:Serum ratio of (5-dodecenoate (12:1n7))/(acetylcarnitine):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C2orf63 in normal prepouch ileum:Advanced age-related macular degeneration
2 55805440 2 PPP4R3B T C exonic nonsynonymous SNV PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V
2 55912120 1 PNPT1 T C exonic nonsynonymous SNV PNPT1:NM_033109:exon4:c.A361G:p.I121V RS782572 HDL cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
2 58388696 2 FANCL A G exonic synonymous SNV FANCL:NM_001114636:exon12:c.T996C:p.S332S,FANCL:NM_018062:exon12:c.T981C:p.S327S RS848291 Irritible bowel syndrome:Bipolar disorder:Major depressive disorder:Fasting blood glucose:HOMA-IR:Bipolar disorder
2 61522123 2 USP34 T C exonic synonymous SNV USP34:NM_014709:exon32:c.A4422G:p.E1474E RS13014347 Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:HDL cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria
2 61575308 2 USP34 A G exonic nonsynonymous SNV USP34:NM_014709:exon15:c.T1982C:p.M661T RS6722430 HDL cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
2 61577435 1 USP34 T C exonic synonymous SNV USP34:NM_014709:exon12:c.A1467G:p.A489A RS2166720 HDL cholesterol:Cystatin C in serum:Triglycerides:LDL cholesterol:Total cholesterol
2 61647901 1 USP34 A G exonic synonymous SNV USP34:NM_014709:exon2:c.T111C:p.Y37Y RS778155 Gene expression of LOC339803 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of AHSA2 in CEU-CHB-JPT lymphoblastoid cell lines:Total cholesterol change with statins:Total cholesterol:LDL cholesterol:Gene expression of LOC339803 in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus
2 62066927 2 FAM161A A G exonic synonymous SNV FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C RS4672457 LDL cholesterol change with statins:Height:Adiponectin levels
2 62081012 2 FAM161A A C exonic synonymous SNV FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A RS4270331 LDL cholesterol change with statins:Adiponectin levels
2 64327592 1 PELI1 T C exonic synonymous SNV PELI1:NM_020651:exon4:c.A243G:p.L81L RS329497 Eye color:Irritible bowel syndrome:Triglycerides:LDL cholesterol:HDL cholesterol:Differential exon level expression of PELI1 [probe 2556313] in brain cortex:Differential exon level expression of PELI1 [probe 2556313] in peripheral blood mononuclear cells:HDL cholesterol change with statins:Gene expression of PELI1 in blood:Gene expression of PELI1 in normal prepouch ileum:Birth weight
2 69741854 2 AAK1 T G exonic nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q
2 70162534 2 MXD1 T G exonic synonymous SNV MXD1:NM_001202514:exon3:c.T225G:p.L75L,MXD1:NM_001202513:exon4:c.T255G:p.L85L,MXD1:NM_002357:exon4:c.T255G:p.L85L RS11126250 HDL cholesterol
2 70524577 1 FAM136A G A exonic synonymous SNV FAM136A:NM_001329752:exon3:c.C582T:p.N194N,FAM136A:NM_001329753:exon3:c.C516T:p.N172N,FAM136A:NM_001329755:exon3:c.C168T:p.N56N,FAM136A:NM_032822:exon3:c.C261T:p.N87N,FAM136A:NM_001329757:exon4:c.C168T:p.N56N,FAM136A:NM_001329758:exon4:c.C168T:p.N56N
2 71417065 2 PAIP2B G T exonic synonymous SNV PAIP2B:NM_020459:exon3:c.C225A:p.P75P RS357777 Gene expression of DYSF in peripheral blood monocytes:Height:Serum concentration of myristate (14:0)
2 73226090 1 SFXN5 G A exonic nonsynonymous SNV SFXN5:NM_001330412:exon9:c.C92T:p.P31L,SFXN5:NM_001330411:exon10:c.C92T:p.P31L RS12233055 Rheumatoid arthritis:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
2 73492614 1 FBXO41 A T exonic nonsynonymous SNV FBXO41:NM_001080410:exon4:c.T1360A:p.S454T
2 74641624 2 C2orf81 G C exonic synonymous SNV C2orf81:NM_001316766:exon2:c.C1395G:p.P465P,C2orf81:NM_001316764:exon3:c.C1680G:p.P560P,C2orf81:NM_001316765:exon3:c.C1533G:p.P511P,C2orf81:NM_001145054:exon4:c.C1599G:p.P533P RS2240444 Gene expression of MRPL53 in JPT lymphoblastoid cell lines:Height:Diastolic blood pressure (DBP):Adiponectin levels:Diabetic retinopathy in Type 2 diabetes mellitus
2 74687550 2 WBP1 T C exonic synonymous SNV WBP1:NM_012477:exon4:c.T552C:p.P184P
2 74690039 2 MOGS G A exonic nonsynonymous SNV MOGS:NM_006302:exon4:c.C877T:p.P293S,MOGS:NM_001146158:exon5:c.C559T:p.P187S RS2268416 Gene expression of MRPL53 in JPT lymphoblastoid cell lines
2 74690378 2 MOGS C T exonic nonsynonymous SNV MOGS:NM_006302:exon3:c.G715A:p.D239N,MOGS:NM_001146158:exon4:c.G397A:p.D133N RS1063588 Type 1 diabetes:Gene expression of MRPL53 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MRPL53 [probe 225523_at] in lymphoblastoid cell lines:Celiac disease:Irritible bowel syndrome:Differential splicing of GCS1 [probeset 2560131] in lymphoblastoid cell lines:Schizophrenia:Gene expression of MRPL53 [probe 2560141] in peripheral blood mononuclear cells:Gene expression of MRPL53 in peripheral blood monocytes:Gene expression of IL12RB1 in peripheral blood monocytes:Partial epilepsy:Gene expression of MRPL53 in CD4+ lymphocytes:Asthma:Height:Gene expression of HTRA2///LOXL3 in blood:Gene expression of MRPL53 in blood:Serum concentration of 1-palmitoylglycerophosphoinositol*:Gene expression change of PCGF1 (ENSG00000115289) in dendritic cells after treatment with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of MRPL53 in normal prepouch ileum:Gene expression of PCGF1 (ENSG00000115289) in dendritic cells
2 74710491 2 TTC31 C T exonic nonsynonymous SNV TTC31:NM_022492:exon2:c.C83T:p.A28V RS6707475 Gene expression of MRPL53 in JPT lymphoblastoid cell lines:Gene expression of MRPL53 [probe 225523_at] in lymphoblastoid cell lines:Celiac disease:Irritible bowel syndrome:Schizophrenia:Gene expression of MRPL53 [probe 2560141] in peripheral blood mononuclear cells:Partial epilepsy:Gene expression of MRPL53 in CD4+ lymphocytes:Asthma:Height:Gene expression of LBX2 [probe ILMN_14162] in osteoblasts with treatment interaction:Gene expression of MRPL53 [probe ILMN_25576] in osteoblasts treated with BMP2:Gene expression of MRPL53 in blood:Gene expression of HTRA2///LOXL3 in blood:Adiponectin levels
2 74725144 2 LBX2 T C exonic synonymous SNV LBX2:NM_001009812:exon2:c.A495G:p.E165E,LBX2:NM_001282430:exon2:c.A507G:p.E169E RS6546908 Body mass index (BMI):Aortic valve calcium
2 74725178 2 LBX2 G A exonic nonsynonymous SNV LBX2:NM_001009812:exon2:c.C461T:p.S154F,LBX2:NM_001282430:exon2:c.C473T:p.S158F RS17009998 Gene expression of MRPL53 in CEU-CHB-JPT lymphoblastoid cell lines:Height:Gene expression of MRPL53 in normal prepouch ileum:Adiponectin levels
2 75099477 1 HK2 A T exonic nonsynonymous SNV HK2:NM_000189:exon4:c.A426T:p.Q142H RS2229621 Parkinson's disease
2 75101454 1 HK2 T C exonic synonymous SNV HK2:NM_000189:exon7:c.T753C:p.D251D RS2229622 Cystatin C in serum
2 75185856 1 POLE4 G T exonic nonsynonymous SNV POLE4:NM_019896:exon1:c.G50T:p.G17V
2 85781318 2 GGCX T G exonic synonymous SNV GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G
2 86315741 2 POLR1A C T exonic synonymous SNV POLR1A:NM_015425:exon6:c.G678A:p.T226T RS2288120 Gene expression of POLR1A in CHB-JPT lymphoblastoid cell lines:Rheumatoid arthritis:Waist hip ratio:Gene expression of POLR1A in normal prepouch ileum
2 86317037 2 POLR1A G C exonic nonsynonymous SNV POLR1A:NM_015425:exon4:c.C448G:p.P150A RS4832242 LDL cholesterol:Rheumatoid arthritis:Waist hip ratio
2 86683642 2 KDM3A A G exonic nonsynonymous SNV KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V RS2030259 Spine bone mineral density (BMD):Irritible bowel syndrome:Neuroticism:Differential exon level expression of JMJD1A [probe 2492088] in peripheral blood mononuclear cells:Differential exon level expression of JMJD1A [probe 2492088] in brain cortex:Fasting blood glucose:Height:Body mass index (BMI):Gene expression of VPS24 [probe ILMN_15069] in osteoblasts treated with PGE2:Microalbuminuria:Serum ratio of (hexanoylcarnitine)/(sebacate (decanedioate)):Serum concentration of isobutyrylcarnitine:Epilepsy:PROP taste detection threshold:Bipolar disorder
2 86691250 2 KDM3A G A exonic synonymous SNV KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A
2 86697366 1 KDM3A T A exonic nonsynonymous SNV KDM3A:NM_001146688:exon11:c.T1559A:p.L520H,KDM3A:NM_018433:exon11:c.T1559A:p.L520H
2 86697367 1 KDM3A C T exonic synonymous SNV KDM3A:NM_001146688:exon11:c.C1560T:p.L520L,KDM3A:NM_018433:exon11:c.C1560T:p.L520L
2 86716770 1 KDM3A A G exonic synonymous SNV KDM3A:NM_001146688:exon23:c.A3561G:p.E1187E,KDM3A:NM_018433:exon23:c.A3561G:p.E1187E
2 86979093 2 RMND5A G A exonic synonymous SNV RMND5A:NM_022780:exon3:c.G360A:p.E120E RS10186663 Serum creatinine
2 88472791 2 THNSL2 G A exonic nonsynonymous SNV THNSL2:NM_018271:exon1:c.G122A:p.G41E,THNSL2:NM_001244676:exon2:c.G122A:p.G41E RS4129190 Differential exon level expression of THNSL2 [probe 2492816] in brain cortex:Differential exon level expression of THNSL2 [probe 2492817] in brain cortex:Gene expression of THNSL2 [probe 2492783] in brain cortex:Gene expression of FLJ10916 [probe ILMN_28363] in osteoblasts:Fasting insulin:Triglycerides change with statins:Rheumatoid arthritis:Gene expression of FLJ10916 in Caudal pons:Gene expression of THNSL2 in blood:Bipolar disorder:Gene expression of THNSL2 in liver:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of THNSL2 in normal prepouch ileum
2 96688707 1 GPAT2 G A exonic nonsynonymous SNV GPAT2:NM_001321531:exon19:c.C1961T:p.S654L,GPAT2:NM_001321528:exon20:c.C2222T:p.S741L
2 97751523 1 FAHD2B G A exonic nonsynonymous SNV FAHD2B:NM_199336:exon5:c.C598T:p.R200C,FAHD2B:NM_001320848:exon6:c.C598T:p.R200C
2 97756031 1 FAHD2B A G exonic nonsynonymous SNV FAHD2B:NM_001320849:exon3:c.T277C:p.W93R,FAHD2B:NM_199336:exon3:c.T277C:p.W93R,FAHD2B:NM_001320848:exon4:c.T277C:p.W93R
2 98129748 1 ANKRD36B T G exonic synonymous SNV ANKRD36B:NM_025190:exon38:c.A2700C:p.I900I
2 99778985 2 LIPT1 T C exonic synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L RS2632277 Type 1 diabetes, gender differentiated:Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 [probe 220623_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:HDL cholesterol:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Temporal cortex:Gene expression of TSGA10 in peripheral blood monocytes:Gene expression of MRPL30 in peripheral blood monocytes:Gene expression of REV1 in peripheral blood monocytes:Gene expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in peripheral blood monocytes:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or 6)])/(riboflavin (Vitamin B2)):Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of TSGA10 (probeID ILMN_1680430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal prepouch ileum
2 101186088 2 PDCL3 C T exonic synonymous SNV PDCL3:NM_024065:exon4:c.C273T:p.F91F RS1052117 HDL cholesterol change with statins
2 101869588 1 CNOT11 G T exonic synonymous SNV CNOT11:NM_017546:exon1:c.G162T:p.P54P
2 101898412 2 RNF149 G C exonic nonsynonymous SNV RNF149:NM_173647:exon6:c.C1068G:p.D356E RS13151 Refractive error
2 103334969 1 MFSD9 G A exonic synonymous SNV MFSD9:NM_001322080:exon6:c.C1152T:p.G384G,MFSD9:NM_001322081:exon6:c.C1152T:p.G384G,MFSD9:NM_032718:exon6:c.C1335T:p.G445G RS1052431 Schizophrenia:Premature ovarian failure:Serum creatinine:Asthma:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Gene expression of MFSD9 (ENSG00000135953) in dendritic cells treated with Mycobacterium tuberculosis
2 103431404 2 TMEM182 T C exonic nonsynonymous SNV TMEM182:NM_001321346:exon4:c.T241C:p.W81R,TMEM182:NM_001321345:exon5:c.T379C:p.W127R,TMEM182:NM_144632:exon5:c.T667C:p.W223R,TMEM182:NM_001321344:exon6:c.T538C:p.W180R,TMEM182:NM_001321343:exon7:c.T538C:p.W180R RS887987 LDL cholesterol:Rheumatoid arthritis:Comorbid depressive syndrome and alcohol dependence
2 109099572 2 GCC2 C G exonic nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E
2 109106381 2 GCC2 A G exonic synonymous SNV GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q RS12104502 HDL cholesterol:Methylation levels at chr2:108431746-108431796 [hg18 coord, probe cg12433691] in Temporal cortex
2 109389463 2 RANBP2 G A exonic synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E
2 109429146 2 CCDC138 T A exonic synonymous SNV CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A
2 110372192 2 SOWAHC A G exonic synonymous SNV SOWAHC:NM_023016:exon1:c.A126G:p.L42L
2 112536264 2 ANAPC1 G T exonic synonymous SNV ANAPC1:NM_022662:exon45:c.C5373A:p.I1791I
2 112588914 1 ANAPC1 T C exonic synonymous SNV ANAPC1:NM_022662:exon21:c.A2574G:p.P858P
2 112588926 1 ANAPC1 A G exonic synonymous SNV ANAPC1:NM_022662:exon21:c.T2562C:p.G854G
2 112592207 1 ANAPC1 A G exonic synonymous SNV ANAPC1:NM_022662:exon19:c.T2358C:p.L786L
2 112592265 1 ANAPC1 T C exonic nonsynonymous SNV ANAPC1:NM_022662:exon19:c.A2300G:p.H767R
2 112592412 1 ANAPC1 T C exonic nonsynonymous SNV ANAPC1:NM_022662:exon19:c.A2153G:p.N718S
2 113089267 2 ZC3H6 T C exonic synonymous SNV ZC3H6:NM_198581:exon12:c.T2772C:p.N924N RS7601200 Simpson-Angus Scale:Major depressive disorder (broad definition):Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition) (males):HOMA-B:Fasting insulin:Gene expression of IL27RA in peripheral blood monocytes:Total cholesterol:Diabetic nephropathy in type 2 diabetes mellitus - end stage renal disease:Serum ratio of (biliverdin)/(glycochenodeoxycholate):Resistance to kuru in aged women despite likely exposure:College completion:General white matter integrity factor:Years of education:Tetrology of fallot:Birth weight
2 113513825 2 CKAP2L T C exonic nonsynonymous SNV CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,CKAP2L:NM_152515:exon4:c.A1123G:p.I375V RS6731822 Total cholesterol:Diastolic blood pressure (DBP)
2 114220055 1 CBWD2 T C exonic synonymous SNV CBWD2:NM_001330336:exon8:c.T646C:p.L216L,CBWD2:NM_172003:exon8:c.T646C:p.L216L,CBWD2:NM_001330339:exon9:c.T538C:p.L180L,CBWD2:NM_001330342:exon9:c.T142C:p.L48L,CBWD2:NM_001330340:exon10:c.T142C:p.L48L RS1210133 LDL cholesterol
2 118583940 1 DDX18 C T exonic synonymous SNV DDX18:NM_006773:exon11:c.C1617T:p.R539R RS2303348 Total cholesterol change with statins:HDL cholesterol:Years of education
2 120060082 1 C2orf76 T C exonic nonsynonymous SNV C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R RS1052500 LDL cholesterol change with statins:Total cholesterol change with statins:Microalbuminuria:Gene expression of STEAP3 in blood:Hypertension (early onset hypertension):Birth weight:Advanced age-related macular degeneration (geographic atrophy)
2 120438523 2 TMEM177 A G exonic nonsynonymous SNV TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V
2 120438696 2 TMEM177 A G exonic synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q
2 120439230 2 TMEM177 C G exonic nonsynonymous SNV TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E RS1983406 2 hour glucose:Gene expression of TMEM177 [transcript NM_030577, probe A_23_P5339] in liver:Comorbid depressive syndrome and alcohol dependence:Type 2 diabetes
2 128870808 2 UGGT1 T C exonic synonymous SNV UGGT1:NM_020120:exon6:c.T672C:p.N224N RS4662775 LDL cholesterol
2 128878014 2 UGGT1 G A exonic synonymous SNV UGGT1:NM_020120:exon9:c.G957A:p.K319K
2 135711516 2 CCNT2 C T exonic synonymous SNV CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D RS3814355 HOMA-IR:Fasting insulin:Serum creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass index (BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease:Gene expression of LCT in normal prepouch ileum
2 135711657 2 CCNT2 G A exonic synonymous SNV CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K,CCNT2:NM_001320748:exon10:c.G1200A:p.K400K,CCNT2:NM_001320749:exon10:c.G1107A:p.K369K RS3814354 HOMA-IR:Fasting insulin:Serum creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass index (BMI):Systolic blood pressure (SBP):Gene expression of LCT in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease
2 135911422 2 RAB3GAP1 T C exonic synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F RS17261772 LDL cholesterol:Fasting insulin:Serum creatinine:Cystatin C in serum:HDL cholesterol:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 135988186 1 ZRANB3 G A exonic synonymous SNV ZRANB3:NM_001286568:exon13:c.C1851T:p.T617T,ZRANB3:NM_032143:exon13:c.C1851T:p.T617T,ZRANB3:NM_001286569:exon14:c.C489T:p.T163T
2 143798189 2 KYNU A G exonic nonsynonymous SNV KYNU:NM_003937:exon13:c.A1234G:p.K412E,KYNU:NM_001199241:exon14:c.A1234G:p.K412E RS9013 Gene expression of KYNU in blood:Hypertension (early onset hypertension):Aortic valve calcium
2 144899559 2 GTDC1 C A exonic nonsynonymous SNV GTDC1:NM_001284233:exon4:c.G411T:p.M137I,GTDC1:NM_001284234:exon4:c.G24T:p.M8I,GTDC1:NM_001006636:exon6:c.G411T:p.M137I,GTDC1:NM_001164629:exon6:c.G411T:p.M137I,GTDC1:NM_001284235:exon6:c.G411T:p.M137I,GTDC1:NM_024659:exon6:c.G411T:p.M137I,GTDC1:NM_001284238:exon8:c.G315T:p.M105I RS3731958 Lp-PLA2 mass:Prostate cancer:Mitral annular calcium
2 152018832 2
2 152138522 1 NMI T C exonic synonymous SNV NMI:NM_004688:exon3:c.A117G:p.Q39Q RS3771886 Differential exon level expression of NMI [probe 2580969] in peripheral blood mononuclear cells:Triglycerides change with statins:Triglycerides:HDL cholesterol:Body mass index (BMI):Gene expression of TNFAIP6 in blood:Gene expression of RBM43 in blood:Gene expression of NMI in blood:Gene expression of NMI in normal prepouch ileum
2 157406249 2 GPD2 G A exonic nonsynonymous SNV GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H RS2116665 HDL cholesterol:Total cholesterol change with statins:LDL cholesterol:LDL cholesterol change with statins:Myopia:Refractive error:Obesity with early age of onset (age >2)
2 158626980 2 ACVR1 C T exonic synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E RS1146031 Polycystic ovary syndrome
2 158636910 1 ACVR1 G A exonic synonymous SNV ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A
2 160019863 2 TANC1 A G exonic nonsynonymous SNV TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_001350064:exon8:c.A752G:p.N251S,TANC1:NM_033394:exon8:c.A752G:p.N251S,TANC1:NM_001350065:exon9:c.A752G:p.N251S
2 160035207 2 TANC1 T C exonic synonymous SNV TANC1:NM_001350062:exon11:c.T1440C:p.N480N,TANC1:NM_001350063:exon12:c.T1674C:p.N558N,TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_001350064:exon14:c.T2022C:p.N674N,TANC1:NM_033394:exon14:c.T2043C:p.N681N,TANC1:NM_001350065:exon15:c.T2022C:p.N674N
2 160136337 2 WDSUB1 G A exonic nonsynonymous SNV WDSUB1:NM_001330279:exon2:c.C11T:p.P4L,WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_001307994:exon3:c.C518T:p.P173L,WDSUB1:NM_001330274:exon3:c.C518T:p.P173L,WDSUB1:NM_001330276:exon3:c.C518T:p.P173L,WDSUB1:NM_001330277:exon3:c.C257T:p.P86L,WDSUB1:NM_001330278:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L
2 160605268 2 7-Mar T C exonic synonymous SNV MARCH7:NM_001282806:exon4:c.T1299C:p.P433P,MARCH7:NM_001282807:exon4:c.T1353C:p.P451P,MARCH7:NM_022826:exon5:c.T1467C:p.P489P,MARCH7:NM_001282805:exon7:c.T1467C:p.P489P RS1365803 Serum creatinine:Chronic kidney disease:Autism:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:College completion
2 165476253 2 GRB14 A T exonic nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I
2 166165901 2 SCN2A G A exonic synonymous SNV SCN2A:NM_001040142:exon6:c.G645A:p.A215A,SCN2A:NM_021007:exon6:c.G645A:p.A215A
2 166788336 2 TTC21B T C exonic nonsynonymous SNV TTC21B:NM_024753:exon8:c.A826G:p.T276A
2 166797646 2 TTC21B C T exonic nonsynonymous SNV TTC21B:NM_024753:exon6:c.G601A:p.V201M RS1432273 Spine bone mineral density (BMD):Total cholesterol:Chronic kidney disease:Partial epilepsy:Late onset Alzheimer's disease:Serum ratio of (1-arachidonoylglycerophosphocholine*)/(1-eicosatrienoylglycerophosphocholine*):Age at death with kuru exposure
2 170605981 2 KLHL23;PHOSPHO2-KLHL23 C T exonic synonymous SNV KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G
2 171627676 2 ERICH2 T G exonic nonsynonymous SNV ERICH2:NM_001290030:exon1:c.T485G:p.L162R,ERICH2:NM_001290031:exon1:c.T485G:p.L162R
2 171822466 2 GORASP2 C T exonic synonymous SNV GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S RS4668356 Hip bone mineral density (BMD):Paired associates learning total errors 8 patterns:HOMA-IR:Exceptional Longevity:Body mass index (BMI):Serum ratio of (glycine)/(n-Butyl Oleate):Tourette's syndrome:Primary rhegmatogenous retinal detachment
2 172180771 2 METTL8 A G exonic unknown UNKNOWN
2 172725301 2 SLC25A12 A G exonic synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y RS1878583 Xylose:trans-Aconitate:Serum ratio of (arabinose)/(indolepropionate):Serum ratio of (1-stearoylglycerol (1-monostearin))/(1,7-dimethylurate):Hypertension (early onset hypertension):Transmission distortion:Maternal transmission distortion:Obesity with early age of onset (age >2)
2 173352103 1 ITGA6 C T exonic synonymous SNV ITGA6:NM_000210:exon15:c.C2082T:p.D694D,ITGA6:NM_001079818:exon15:c.C2082T:p.D694D,ITGA6:NM_001316306:exon15:c.C1725T:p.D575D RS2293649 Waist hip ratio:Gene expression of ITGA6 in blood:Serum ratio of (gamma-glutamylthreonine*)/(n-Butyl Oleate):Bipolar disorder
2 175213722 1 CIR1 C T exonic nonsynonymous SNV CIR1:NM_004882:exon10:c.G856A:p.E286K
2 176866967 1 LNPK C T exonic nonsynonymous SNV LNPK:NM_001305008:exon1:c.G52A:p.A18T,LNPK:NM_001305010:exon1:c.G52A:p.A18T
2 178417142 2 TTC30B C T exonic nonsynonymous SNV TTC30B:NM_152517:exon1:c.G350A:p.R117H RS11694988 Mitral annular calcium
2 178417225 2 TTC30B C T exonic synonymous SNV TTC30B:NM_152517:exon1:c.G267A:p.L89L
2 178481818 2 TTC30A G T exonic synonymous SNV TTC30A:NM_152275:exon1:c.C1612A:p.R538R RS10497497 Major depressive disorder:Lp-PLA2 mass:Serum ratio of (3-phenylpropionate (hydrocinnamate))/(p-cresol sulfate):Mitral annular calcium
2 179406191 2 TTN C T exonic nonsynonymous SNV TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H RS3731749 Arthritis including non-Rheumatoid:Triglycerides:Triglycerides change with statins:Serum creatinine:Height
2 179413110 2 TTN G A exonic synonymous SNV TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A RS3731748 Triglycerides change with statins:Body mass index (BMI)
2 179702268 2 CCDC141 A G exonic synonymous SNV CCDC141:NM_173648:exon23:c.T3678C:p.P1226P
2 179839833 2 CCDC141 A G exonic synonymous SNV CCDC141:NM_001316745:exon4:c.T477C:p.S159S,CCDC141:NM_173648:exon4:c.T477C:p.S159S RS10930846 Rheumatoid arthritis:Total hip bone mineral density (BMD) (postmenopausal females)
2 180810264 2 CWC22 A T exonic nonsynonymous SNV CWC22:NM_020943:exon20:c.T2319A:p.S773R RS6433818 Birth weight:Infant head circumference
2 180835792 2 CWC22 T A exonic synonymous SNV CWC22:NM_020943:exon9:c.A816T:p.V272V RS3768837 Birth weight
2 187532417 2 ITGAV G A exonic nonsynonymous SNV ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I
2 187558960 2 FAM171B G A exonic synonymous SNV FAM171B:NM_177454:exon1:c.G60A:p.L20L
2 190531426 2 ASNSD1 G A exonic nonsynonymous SNV ASNSD1:NM_019048:exon4:c.G568A:p.G190R RS1437880 Salmonella-induced pyroptosis
2 190617643 2 OSGEPL1 A G exonic synonymous SNV OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N
2 191161622 2 HIBCH T C exonic nonsynonymous SNV HIBCH:NM_014362:exon3:c.A136G:p.T46A,HIBCH:NM_198047:exon3:c.A136G:p.T46A RS1058180 Gene expression of INPP1 [probe 202794_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Triglycerides:LDL cholesterol change with statins:Triglycerides:Gene expression of HIBCH in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene expression of MFSD6 in blood:Gene expression of HIBCH in blood:Gene expression of INPP1 in blood:Serum concentration of 1-linoleoylglycerol (1-monolinolein):Resistance to kuru in aged women despite likely exposure:Gene expression of HIBCH in liver:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Alzheimer's disease cases and controls:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Alzheimer's disease cases:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of HIBCH in normal prepouch ileum:Aortic valve calcium:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in non-Alzheimer's disease samples
2 192160875 2 MYO1B C T exonic synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y RS4853575 Gene expression of MYO1B [probe 212365_at] in lymphoblastoid cell lines:Gene expression of MYO1B [probe 212364_at] in lymphoblastoid cell lines:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:LDL cholesterol:Serum concentration of glucose:Serum ratio of (phenol sulfate)/(pyroglutamylglycine):Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
2 192250726 2 MYO1B G A exonic synonymous SNV MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E RS13018796 Infant head circumference
2 192279327 2 MYO1B T C exonic synonymous SNV MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L RS2271767 LDL cholesterol:Infant head circumference
2 197004439 2 STK17B A G exonic synonymous SNV STK17B:NM_004226:exon7:c.T741C:p.I247I RS1054537 Gene expression of probe 241860_at in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Urinary albumin-to-creatinine ratio:College completion
2 201437334 2 SGO2 T C exonic synonymous SNV SGO2:NM_001160033:exon7:c.T2265C:p.P755P,SGO2:NM_001160046:exon7:c.T2265C:p.P755P,SGO2:NM_152524:exon7:c.T2265C:p.P755P
2 201750058 1 PPIL3 T C exonic synonymous SNV PPIL3:NM_032472:exon4:c.A111G:p.V37V
2 202260049 2 TRAK2 G A exonic synonymous SNV TRAK2:NM_015049:exon8:c.C888T:p.H296H
2 202575821 2 ALS2 G A exonic synonymous SNV ALS2:NM_020919:exon26:c.C4015T:p.L1339L RS3219168 LDL cholesterol change with statins:Obesity with early age of onset (age >2):Birth weight:Infant head circumference
2 202625615 2 ALS2 C T exonic nonsynonymous SNV ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M RS3219156 HDL cholesterol:Asthma:Serum concentration of glycerol:Sporadic Creutzfeldt-Jakob disease:Birth weight
2 204062061 2 NBEAL1 A G exonic nonsynonymous SNV NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V RS4675323 Cystatin C in serum:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 205829991 2 PARD3B C T exonic synonymous SNV PARD3B:NM_001302769:exon3:c.C339T:p.A113A,PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A RS236843 Rheumatoid arthritis:Partial epilepsy:Tetrology of fallot
2 206364737 2 PARD3B T C exonic synonymous SNV PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S,PARD3B:NM_001302769:exon21:c.T3162C:p.S1054S
2 207988613 2 KLF7 C T exonic synonymous SNV KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L
2 208477852 2 METTL21A G A exonic nonsynonymous SNV METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_001330130:exon4:c.C575T:p.T192I,METTL21A:NM_001330134:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I,METTL21A:NM_001330137:exon5:c.C629T:p.T210I RS2551949 Gene expression of FAM119A [probe 235177_at] in lymphoblastoid cell lines:Gene expression of FAM119A [probe 235931_at] in lymphoblastoid cell lines:Major depressive disorder:Serum creatinine:Rheumatoid arthritis:Gene expression of CREB1 in CD4+ lymphocytes:Gene expression of CREB1 [probe ILMN_4653] in untreated osteoblasts:Gene expression of FAM119A in liver:Serum ratio of (hexadecanedioate)/(taurodeoxycholate):Serum concentration of glycine:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of FAM119A [probeset 235931_at] in sputum:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Alzheimer's disease cases:Gene expression of CCNYL1 (ENSG00000163249) in dendritic cells:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Alzheimer's disease cases:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in non-Alzheimer's disease samples:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CCNYL1 (ENSG00000163249) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Alzheimer's disease cases and controls
2 208477956 2 METTL21A C T exonic synonymous SNV METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330130:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330134:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330137:exon5:c.G525A:p.Q175Q RS2709416 Rheumatoid arthritis:Serum ratio of (hexadecanedioate)/(taurodeoxycholate):Fasting insulin:HOMA-IR
2 208633413 2 FZD5 T C exonic synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L
2 209191099 2 PIKFYVE T C exonic synonymous SNV PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N
2 214142446 1 LOC100130451 G A exonic nonsynonymous SNV LOC100130451:NM_001242575:exon3:c.C430T:p.L144F
2 214142447 1 LOC100130451 G A exonic synonymous SNV LOC100130451:NM_001242575:exon3:c.C429T:p.C143C
2 215632256 2 BARD1 A G exonic synonymous SNV BARD1:NM_001282543:exon5:c.T1461C:p.H487H,BARD1:NM_000465:exon6:c.T1518C:p.H506H RS2070093 Cystatin C in serum:Microalbuminuria:Advanced age-related macular degeneration:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy)
2 216235089 2 FN1 C T exonic nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I
2 216242917 2 FN1 T A exonic synonymous SNV FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G
2 216249587 2 FN1 C T exonic synonymous SNV FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E RS13652 Hip bone mineral density (BMD):HOMA-B:Microalbuminuria:Late onset Alzheimer's disease
2 216272900 2 FN1 T G exonic nonsynonymous SNV FN1:NM_001306129:exon17:c.A2449C:p.T817P,FN1:NM_001306130:exon17:c.A2449C:p.T817P,FN1:NM_001306131:exon17:c.A2449C:p.T817P,FN1:NM_001306132:exon17:c.A2449C:p.T817P,FN1:NM_002026:exon17:c.A2449C:p.T817P,FN1:NM_212474:exon17:c.A2449C:p.T817P,FN1:NM_212476:exon17:c.A2449C:p.T817P,FN1:NM_212478:exon17:c.A2449C:p.T817P,FN1:NM_212482:exon17:c.A2449C:p.T817P RS2577301 Diastolic blood pressure (DBP)
2 216272907 2 FN1 A T exonic synonymous SNV FN1:NM_001306129:exon17:c.T2442A:p.P814P,FN1:NM_001306130:exon17:c.T2442A:p.P814P,FN1:NM_001306131:exon17:c.T2442A:p.P814P,FN1:NM_001306132:exon17:c.T2442A:p.P814P,FN1:NM_002026:exon17:c.T2442A:p.P814P,FN1:NM_212474:exon17:c.T2442A:p.P814P,FN1:NM_212476:exon17:c.T2442A:p.P814P,FN1:NM_212478:exon17:c.T2442A:p.P814P,FN1:NM_212482:exon17:c.T2442A:p.P814P RS7596677 Triglycerides change with statins:Total cholesterol change with statins:Birth weight
2 216300482 2 FN1 T A exonic nonsynonymous SNV FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L RS1250259 Triglycerides change with statins:LDL cholesterol:Total cholesterol:Waist hip ratio:Nonsyndromic striae distensae (stretch marks)
2 217012901 2 XRCC5 A G exonic synonymous SNV XRCC5:NM_021141:exon14:c.A1572G:p.T524T RS207906 Gene expression of XRCC5 in blood:Salmonella-induced pyroptosis:Gene expression change of PECR (ENSG00000115425) in dendritic cells after treatment with Mycobacterium tuberculosis:Infant head circumference:Gene expression of PECR (ENSG00000115425) in dendritic cells treated with Mycobacterium tuberculosis:Maternal transmission distortion
2 219144815 2 TMBIM1 T C exonic synonymous SNV TMBIM1:NM_001321428:exon3:c.A237G:p.A79A,TMBIM1:NM_001321432:exon3:c.A237G:p.A79A,TMBIM1:NM_022152:exon3:c.A237G:p.A79A,TMBIM1:NM_001321427:exon4:c.A237G:p.A79A,TMBIM1:NM_001321429:exon4:c.A237G:p.A79A,TMBIM1:NM_001321430:exon4:c.A237G:p.A79A,TMBIM1:NM_001321433:exon4:c.A237G:p.A79A,TMBIM1:NM_001321435:exon4:c.A237G:p.A79A,TMBIM1:NM_001321436:exon4:c.A237G:p.A79A
2 219319657 2 USP37 A G exonic nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S
2 219508988 2 ZNF142 T C exonic nonsynonymous SNV ZNF142:NM_001105537:exon8:c.A2251G:p.S751G RS3770214 Gene expression of RQCD1 [probe 213098_at] in lymphoblastoid cell lines:Gene expression of CYP27A1 in blood cells in Celiac disease:Premature ovarian failure:Fasting insulin:HOMA-B:Gene expression of SLC11A1 in peripheral blood monocytes:Gene expression of CYP27A1 in peripheral blood monocytes:Gene expression of STK36 in peripheral blood monocytes:Triglycerides:Height:Body mass index (BMI):Suicide attempts in major depressive disorder:Gene expression of CYP27A1 in blood:Gene expression of ZNF142 in blood:Gene expression of RQCD1 in blood:Gene expression of TTLL4 in blood:Serum ratio of (glutamate)/(N2,N2-dimethylguanosine):Gene expression of SLC27A1 (probeID ILMN_1704985) in whole blood in amyotrophic lateral sclerosis cases and controls:Primary rhegmatogenous retinal detachment:Amyotrophic lateral sclerosis (ALS):Amyotrophic lateral sclerosis (ALS):Tetrology of fallot
2 220037393 2 CNPPD1 A G exonic nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T1148C:p.L383P,CNPPD1:NM_001321389:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321390:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321391:exon9:c.T1148C:p.L383P
2 220083279 2 ABCB6 C T exonic synonymous SNV ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L RS1109866 HDL cholesterol:Cystatin C in serum:Years of education:College completion
2 220085845 2 ATG9A A G exonic synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T RS2276633 Triglycerides:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 220113242 2 STK16 T G exonic synonymous SNV STK16:NM_001330214:exon6:c.T783G:p.L261L,STK16:NM_001330215:exon6:c.T525G:p.L175L,STK16:NM_001008910:exon8:c.T879G:p.L293L,STK16:NM_001330213:exon8:c.T879G:p.L293L
2 220404381 2 CHPF A G exonic synonymous SNV CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y
2 220405321 2 CHPF T C exonic nonsynonymous SNV CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R RS6436155 Cystatin C in serum
2 220412256 2 TMEM198 T C exonic synonymous SNV TMEM198:NM_001005209:exon3:c.T195C:p.F65F,TMEM198:NM_001303098:exon4:c.T195C:p.F65F
2 220414016 2 TMEM198 C T exonic synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D
2 220420956 2 OBSL1 A G exonic synonymous SNV OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D
2 220430203 2 OBSL1 C T exonic nonsynonymous SNV OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K RS1039898 Total cholesterol:HDL cholesterol:Height:Neuroblastoma (brain cancer):Serum concentration of 1-myristoylglycerophosphocholine
2 220435034 2 OBSL1 A G exonic synonymous SNV OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L RS10180675 Total cholesterol
2 220476443 2 STK11IP C T exonic nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2222T:p.S741F RS627530 Triglycerides
2 223436607 2 FARSB C T exonic nonsynonymous SNV FARSB:NM_005687:exon17:c.G1753A:p.V585I RS7185 Irritible bowel syndrome:Alzheimer's disease:Eur students <30 Digit Symbol:Total cholesterol:Autism:Asthma:Infant head circumference
2 231077725 2 SP110 A G exonic nonsynonymous SNV SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R RS1129411 Paternal transmission distortion
2 232087474 2 ARMC9 A G exonic nonsynonymous SNV ARMC9:NM_001291656:exon6:c.A538G:p.I180V,ARMC9:NM_025139:exon6:c.A538G:p.I180V
2 232087475 2 ARMC9 T A exonic nonsynonymous SNV ARMC9:NM_001291656:exon6:c.T539A:p.I180K,ARMC9:NM_025139:exon6:c.T539A:p.I180K
2 233498669 2 EFHD1 G T exonic synonymous SNV EFHD1:NM_025202:exon1:c.G255T:p.P85P RS2276557 Infant head circumference
2 233757697 2 NGEF A G exonic synonymous SNV NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I RS895432 Total cholesterol change with statins:Lp-PLA2 activity:Serum ratio of (cysteine-glutathione disulfide)/(lathosterol):Infant head circumference:Refractive error
2 234449316 2 USP40 G A exonic synonymous SNV USP40:NM_018218:exon9:c.C1195T:p.L399L RS2167884 HDL cholesterol:HDL cholesterol
2 235950187 2 SH3BP4 T C exonic synonymous SNV SH3BP4:NM_014521:exon4:c.T774C:p.D258D RS1469375 Triglycerides:2 hour glucose:Ulcerative colitis:Asthma:Serum concentration of inosine:Adiponectin levels
2 235951819 2 SH3BP4 A G exonic synonymous SNV SH3BP4:NM_014521:exon4:c.A2406G:p.L802L RS3795962 2 hour glucose:Adiponectin levels
2 238671271 1 LRRFIP1 A G exonic synonymous SNV LRRFIP1:NM_001137553:exon8:c.A747G:p.K249K,LRRFIP1:NM_004735:exon10:c.A843G:p.K281K,LRRFIP1:NM_001137552:exon11:c.A915G:p.K305K
2 238671355 1 LRRFIP1 C T exonic synonymous SNV LRRFIP1:NM_001137553:exon8:c.C831T:p.D277D,LRRFIP1:NM_004735:exon10:c.C927T:p.D309D,LRRFIP1:NM_001137552:exon11:c.C999T:p.D333D
2 238671377 1 LRRFIP1 C A exonic nonsynonymous SNV LRRFIP1:NM_001137553:exon8:c.C853A:p.P285T,LRRFIP1:NM_004735:exon10:c.C949A:p.P317T,LRRFIP1:NM_001137552:exon11:c.C1021A:p.P341T
2 238671886 1 LRRFIP1 C T exonic synonymous SNV LRRFIP1:NM_001137553:exon8:c.C1362T:p.D454D,LRRFIP1:NM_004735:exon10:c.C1458T:p.D486D,LRRFIP1:NM_001137552:exon11:c.C1530T:p.D510D
2 240961728 2 NDUFA10 T C exonic synonymous SNV NDUFA10:NM_001322019:exon2:c.A105G:p.K35K,NDUFA10:NM_001322020:exon2:c.A105G:p.K35K,NDUFA10:NM_004544:exon2:c.A105G:p.K35K RS2083411 Waist hip ratio:Serum ratio of (7-methylguanine)/(asparagine):Obesity with early age of onset (age >2)
2 242203916 2 HDLBP A C exonic nonsynonymous SNV HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A
2 242572846 2 THAP4 A G exonic synonymous SNV THAP4:NM_015963:exon2:c.T726C:p.S242S
3 3170792 2 TRNT1 C T exonic nonsynonymous SNV TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L RS334773 Salmonella-induced pyroptosis
3 3189279 2 TRNT1 A G exonic synonymous SNV TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A RS1705805 Gene expression of TRNT1 in YRI lymphoblastoid cell lines:HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):Gene expression of CRBN in blood
3 3197918 2 CRBN A G exonic synonymous SNV CRBN:NM_001173482:exon6:c.T732C:p.Y244Y,CRBN:NM_016302:exon6:c.T735C:p.Y245Y RS17027638 Microalbuminuria:Urinary albumin-to-creatinine ratio
3 4817057 2 ITPR1 T C exonic synonymous SNV ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N RS6442905 HDL cholesterol:HOMA-IR:Fasting blood glucose
3 9934605 2 JAGN1 T C exonic synonymous SNV JAGN1:NM_032492:exon2:c.T96C:p.T32T RS279553 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Total cholesterol:Triglycerides change with statins:Chronic kidney disease:Cystatin C in serum:Gene expression of IL17RC in peripheral blood monocytes:Gene expression of CRELD1 in peripheral blood monocytes:Gene expression of PACAP in peripheral blood monocytes:HDL cholesterol:Height:Gene expression of TTLL3 in blood:Gene expression of CRELD1///PRRT3 in blood:Serum concentration of threitol:Emergence of suicidal ideation during treatment with antidepressants:Emergence of suicidal ideation during treatment with antidepressants  (broad definition - no increase in suicide ideation):Emergence of suicidal ideation during treatment with antidepressants  (narrow definition - emergence from suicidal ideation absent at baseline):Age at death with kuru exposure:Transmission distortion
3 9970031 2 IL17RC A G exonic nonsynonymous SNV IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R
3 9976159 2 CRELD1 A G exonic nonsynonymous SNV CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V
3 9985656 1 CRELD1 C T exonic synonymous SNV CRELD1:NM_001031717:exon11:c.C1119T:p.H373H RS3774207 HDL cholesterol change with statins:Methylation levels at chr3:10165289-10165339 [hg18 coord, probe cg27226214] in Temporal cortex:Methylation levels at chr3:10165289-10165339 [hg18 coord, probe cg27226214] in Caudal pons:Methylation levels at chr3:10165289-10165339 [hg18 coord, probe cg27226214] in Frontal cortex:Total cholesterol
3 10276163 2 IRAK2 T A exonic nonsynonymous SNV IRAK2:NM_001570:exon11:c.T1293A:p.D431E RS708035 Barnes Akathisia Rating Scale:Gene expression of GHRL in peripheral blood monocytes:Serum ratio of (2-hydroxystearate)/(dihomo-linolenate (20:3n3 or n6))
3 10302172 2 TATDN2 G A exonic nonsynonymous SNV TATDN2:NM_014760:exon3:c.G766A:p.V256I RS394558 Spine bone mineral density (BMD):Gene expression of GHRL in blood:Gene expression of TATDN2 in blood:Gene expression of VHL in blood:Serum ratio of (gamma-tocopherol)/(glycerol 2-phosphate):College completion:Primary rhegmatogenous retinal detachment:Gene expression of GHRLOS2 in normal prepouch ileum:Gene expression of TATDN2 in normal prepouch ileum
3 11643465 2 VGLL4 T C exonic nonsynonymous SNV VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M,VGLL4:NM_001284390:exon4:c.A111G:p.I37M RS2276749 Height:Aortic valve calcium
3 13361391 2 NUP210 A G exonic nonsynonymous SNV NUP210:NM_024923:exon37:c.T5255C:p.L1752S RS354479 HDL cholesterol:Autism without verbal ability:HDL cholesterol:Triglycerides:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
3 18427924 2 SATB1 G T exonic synonymous SNV SATB1:NM_001322876:exon7:c.C1170A:p.P390P,SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_001322871:exon8:c.C1386A:p.P462P,SATB1:NM_001322873:exon8:c.C1386A:p.P462P,SATB1:NM_001322874:exon8:c.C1386A:p.P462P,SATB1:NM_001322875:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P,SATB1:NM_001322872:exon9:c.C1386A:p.P462P
3 24006477 2 NR1D2 T A exonic nonsynonymous SNV NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M RS4858097 LDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio
3 27424718 2 SLC4A7 A G exonic synonymous SNV SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_001321107:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001321108:exon23:c.T3144C:p.D1048D,SLC4A7:NM_001321103:exon24:c.T3516C:p.D1172D,SLC4A7:NM_001321104:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321105:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321106:exon24:c.T3465C:p.D1155D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D RS1472256 Triglycerides change with statins:HDL cholesterol:Triglycerides:Serum ratio of (citrulline)/(n-Butyl Oleate):Advanced age-related macular degeneration (geographic atrophy)
3 31712393 2 OSBPL10 C T exonic synonymous SNV OSBPL10:NM_001174060:exon8:c.G1617A:p.P539P,OSBPL10:NM_017784:exon9:c.G1809A:p.P603P RS3749405 Total cholesterol change with statins:Height:Years of education:Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age >2)
3 33055721 2 GLB1 A G exonic nonsynonymous SNV GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R
3 33138544 2 GLB1 A G exonic synonymous SNV GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L
3 36897812 2 TRANK1 T C exonic nonsynonymous SNV TRANK1:NM_014831:exon12:c.A3269G:p.E1090G,TRANK1:NM_001329998:exon13:c.A3401G:p.E1134G
3 38401839 2 XYLB T C exonic synonymous SNV XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G
3 39185248 2 CSRNP1 A G exonic synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S RS784519 Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in whole blood
3 42236415 2 TRAK1 A G exonic synonymous SNV TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_001349248:exon9:c.A873G:p.S291S,TRAK1:NM_001349249:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S,TRAK1:NM_001349245:exon10:c.A783G:p.S261S,TRAK1:NM_001349246:exon10:c.A1095G:p.S365S,TRAK1:NM_001349247:exon10:c.A1095G:p.S365S RS9851455 Serum creatinine
3 44611684 1 ZKSCAN7 G A exonic nonsynonymous SNV ZKSCAN7:NM_001288592:exon5:c.G629A:p.G210E,ZKSCAN7:NM_001288590:exon6:c.G1082A:p.G361E,ZKSCAN7:NM_018651:exon6:c.G1082A:p.G361E
3 44611913 1 ZKSCAN7 A G exonic synonymous SNV ZKSCAN7:NM_001288592:exon5:c.A858G:p.K286K,ZKSCAN7:NM_001288590:exon6:c.A1311G:p.K437K,ZKSCAN7:NM_018651:exon6:c.A1311G:p.K437K
3 44612321 1 ZKSCAN7 T C exonic synonymous SNV ZKSCAN7:NM_001288590:exon6:c.T1719C:p.H573H,ZKSCAN7:NM_018651:exon6:c.T1719C:p.H573H
3 44612825 1 ZKSCAN7 C T exonic synonymous SNV ZKSCAN7:NM_001288590:exon6:c.C2223T:p.H741H,ZKSCAN7:NM_018651:exon6:c.C2223T:p.H741H
3 44612826 1 ZKSCAN7 A G exonic nonsynonymous SNV ZKSCAN7:NM_001288590:exon6:c.A2224G:p.T742A,ZKSCAN7:NM_018651:exon6:c.A2224G:p.T742A
3 44692564 2 ZNF35 C G exonic nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S RS2272044 Serum ratio of (lathosterol)/(mannitol)
3 44775962 2 ZNF501 A G exonic nonsynonymous SNV ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V RS4682752 Gene expression of ZNF502 in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene expression of ZNF502 in blood:Gene expression of ZNF167 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in normal prepouch ileum
3 44884647 2 KIF15 C A exonic nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M RS3804583 Irritible bowel syndrome:Gene expression of ZNF197 in peripheral blood monocytes:Gene expression of ZNF167 in peripheral blood monocytes:Gene expression of ZNF502 in peripheral blood monocytes:Gene expression of TMEM42 in peripheral blood monocytes:Total cholesterol:Late onset Alzheimer's disease:Gene expression of ZNF502 in blood:Serum ratio of (acetylcarnitine)/(gamma-glutamylisoleucine*):Gene expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in normal prepouch ileum
3 45052775 2 EXOSC7 G C exonic nonsynonymous SNV EXOSC7:NM_015004:exon8:c.G820C:p.V274L RS6794 Gene expression of KIAA0116 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Handedness in individuals with dyslexia (PegQ test):Alanine/N,N-dimethylglycine ratio
3 45527218 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L RS7610357 Triglycerides
3 45533224 2 LARS2 G A exonic synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A RS2128361 Irritible bowel syndrome:Transmission distortion:Maternal transmission distortion
3 45559519 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A RS2170549 Adiponectin levels
3 45565554 2 LARS2 A G exonic synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V
3 45637253 2 LIMD1 C T exonic synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T
3 45637439 2 LIMD1 T C exonic synonymous SNV LIMD1:NM_014240:exon1:c.T1068C:p.G356G RS267236 Total cholesterol:Serum creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
3 46010077 2 FYCO1 C T exonic nonsynonymous SNV FYCO1:NM_024513:exon8:c.G749A:p.R250Q RS4683158 2 hour glucose:Mitral annular calcium
3 46021218 2 FYCO1 G T exonic synonymous SNV FYCO1:NM_024513:exon4:c.C267A:p.R89R RS4682801 2 hour glucose:Serum ratio of (1-linoleoylglycerophosphoethanolamine*)/(dodecanedioate)
3 47018214 2 CCDC12 T C exonic synonymous SNV CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A
3 47043538 2 NBEAL2 C T exonic synonymous SNV NBEAL2:NM_015175:exon31:c.C4911T:p.S1637S RS2305634 Neuroticism:PC ae C40:3:SM (OH) C22:1:SM (OH) C22:2:Simpson-Angus Scale:Total cholesterol:Bipolar disorder and schizophrenia:HDL cholesterol:Triglycerides:Serum ratio of (linoleate (18:2n6))/(myristate (14:0)):Adiponectin levels
3 47045739 2 NBEAL2 C G exonic synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P RS1079276 Gene expression of KLHL18 [probe 1557165_s_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Adiponectin levels
3 47125385 2 SETD2 G A exonic nonsynonymous SNV SETD2:NM_001349370:exon11:c.C5753T:p.P1918L,SETD2:NM_014159:exon12:c.C5885T:p.P1962L RS4082155 Gene expression of KLHL18 [probe 1557165_s_at] in lymphoblastoid cell lines:Simpson-Angus Scale:Total cholesterol:Adiponectin levels
3 47162661 2 SETD2 A G exonic synonymous SNV SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N RS6767907 Gene expression of DHX30 in JPT lymphoblastoid cell lines:Neuroticism:Total cholesterol:HDL cholesterol:Alanine/N,N-dimethylglycine ratio:Serum ratio of (1-methylurate)/(arabinose):Systolic blood pressure (SBP):Bipolar disorder:Adiponectin levels
3 47449058 2 PTPN23 T C exonic synonymous SNV PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T
3 47452087 2 PTPN23 G A exonic synonymous SNV PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P
3 47452786 2 PTPN23 G A exonic synonymous SNV PTPN23:NM_001304482:exon19:c.G3120A:p.E1040E,PTPN23:NM_015466:exon20:c.G3498A:p.E1166E
3 47454399 2 PTPN23 G C exonic synonymous SNV PTPN23:NM_001304482:exon24:c.G4257C:p.P1419P,PTPN23:NM_015466:exon25:c.G4635C:p.P1545P
3 47459679 2 SCAP C T exonic nonsynonymous SNV SCAP:NM_001320044:exon13:c.G1627A:p.V543I,SCAP:NM_012235:exon16:c.G2392A:p.V798I
3 47462200 2 SCAP T C exonic synonymous SNV SCAP:NM_001320044:exon9:c.A642G:p.G214G,SCAP:NM_012235:exon12:c.A1407G:p.G469G
3 47618953 2 CSPG5 C A exonic nonsynonymous SNV CSPG5:NM_001206942:exon2:c.G149T:p.G50V,CSPG5:NM_001206943:exon2:c.G563T:p.G188V,CSPG5:NM_001206944:exon2:c.G563T:p.G188V,CSPG5:NM_001206945:exon2:c.G149T:p.G50V,CSPG5:NM_006574:exon2:c.G563T:p.G188V RS3732530 Premature ovarian failure:Chronic kidney disease:Height:Body mass index (BMI):Serum ratio of (3-(4-hydroxyphenyl)lactate)/(cysteine-glutathione disulfide):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy):Tetrology of fallot:College completion:Coronary artery disease (CAD)
3 48476431 2 CCDC51 C G exonic synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L
3 48727112 2 IP6K2 G A exonic synonymous SNV IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y RS4858798 Gene expression of NCKIPSD in liver:Irritible bowel syndrome:Tardive dyskinesia:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of QRICH1 in peripheral blood monocytes:Gene expression of NCKIPSD in peripheral blood monocytes:Gene expression of PH-4 in peripheral blood monocytes:Gene expression of SCML1 in peripheral blood monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene expression of INHBE in peripheral blood monocytes:Gene expression of AMT in peripheral blood monocytes:Triglycerides:Waist hip ratio:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Paternal transmission distortion
3 49054692 2 DALRD3 T C exonic nonsynonymous SNV DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R RS3087866 Stabilized warfarin dose:Total cholesterol:LDL cholesterol:Gene expression of NCKIPSD in peripheral blood monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene expression of QRICH1 in peripheral blood monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of AMT in peripheral blood monocytes:Gene expression of PH-4 in peripheral blood monocytes:Triglycerides:Waist hip ratio:Gene expression of IMPDH2///QRICH1 in blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in blood:Serum ratio of (bradykinin, des-arg(9))/(cystine):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Paternal transmission distortion:Years of education:Adiponectin levels
3 49200627 2 CCDC71 A G exonic nonsynonymous SNV CCDC71:NM_022903:exon2:c.T1015C:p.W339R RS4955418 Irritible bowel syndrome:Premature ovarian failure:Chronic lymphocytic leukemia/small lymphocytic lymphoma:Waist hip ratio:Gene expression of TCTA [probe ILMN_19788] in osteoblasts treated with PGE2:Gene expression of C3orf60 in blood:Gene expression of C3orf62///USP4 in blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of CCDC36 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of WDR6 in normal prepouch ileum:Birth weight:Transmission distortion
3 49200692 2 CCDC71 T A exonic nonsynonymous SNV CCDC71:NM_022903:exon2:c.A950T:p.Q317L RS4955419 Waist hip ratio:Advanced age-related macular degeneration:Birth weight:Advanced age-related macular degeneration (geographic atrophy)
3 49548008 2 DAG1 C G exonic nonsynonymous SNV DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W
3 49724808 2 MST1 T C exonic synonymous SNV MST1:NM_020998:exon4:c.A459G:p.P153P RS3020779 Total cholesterol:Chronic kidney disease:Parkinson's disease:Adiponectin levels:Years of education:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2):Advanced age-related macular degeneration:College completion
3 49724837 1 MST1 G A exonic nonsynonymous SNV MST1:NM_020998:exon4:c.C430T:p.P144S
3 49728620 1 RNF123 A G exonic nonsynonymous SNV RNF123:NM_022064:exon2:c.A22G:p.M8V
3 49728642 1 RNF123 A G exonic nonsynonymous SNV RNF123:NM_022064:exon2:c.A44G:p.Y15C
3 49728916 1 RNF123 A C exonic nonsynonymous SNV RNF123:NM_022064:exon3:c.A141C:p.E47D
3 49760039 2 GMPPB T C exonic nonsynonymous SNV GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R
3 50114515 2 RBM6 C T exonic synonymous SNV RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_001349194:exon18:c.C1779T:p.Y593Y,RBM6:NM_001349190:exon19:c.C1755T:p.Y585Y,RBM6:NM_001349191:exon20:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y,RBM6:NM_001349193:exon22:c.C1755T:p.Y585Y,RBM6:NM_001349192:exon23:c.C1755T:p.Y585Y RS7061 Gene expression of probe 228030_at in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Premature ovarian failure:Biploar disorder (bipolar schizoaffective disorder):Total cholesterol:Gene expression of RBM6 in peripheral blood monocytes:Gene expression of HYAL3 in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RBM6 [probe ILMN_13075] in osteoblasts treated with PGE2:Gene expression of RBM6 in blood:Gene expression of IFRD2///HYAL3 in blood:Years of education:Hypertension (early onset hypertension):Obesity with early age of onset (age >2):Parkinson's disease:Transmission distortion:Paternal transmission distortion:College completion
3 50144951 2 RBM5 T C exonic synonymous SNV RBM5:NM_005778:exon12:c.T990C:p.A330A RS1061474 Gene expression of probe 228030_at in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Premature ovarian failure:Total cholesterol:HDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RBM6 in blood:Gene expression of IFRD2///HYAL3 in blood:Parkinson's disease:Gene expression of UBA7 in normal prepouch ileum:College completion:Years of education:Obesity with early age of onset (age >2):Hypertension (early onset hypertension)
3 50153356 2 RBM5 T C exonic synonymous SNV RBM5:NM_005778:exon22:c.T2037C:p.Y679Y RS1138536 Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Gene expression of HYAL3 in peripheral blood monocytes:Gene expression of RBM6 in peripheral blood monocytes:Triglycerides:Birth weight:Hypertension (early onset hypertension):Gene expression of UBA7 in normal prepouch ileum
3 50329826 2 IFRD2 A G exonic synonymous SNV IFRD2:NM_006764:exon1:c.T72C:p.R24R RS1076872 HDL cholesterol change with statins:Serum creatinine:Total cholesterol:HDL cholesterol:Obesity with early age of onset (age >2):College completion
3 50357869 2 HYAL2 A C exonic nonsynonymous SNV HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A RS709210 HDL cholesterol:HDL cholesterol change with statins:Gene expression of HYAL3 in Frontal cortex:HDL cholesterol:Total cholesterol:Gene expression of HYAL3 [transcript NM_003549, probe A_23_P361405] in liver:Obesity with early age of onset (age >2):Gene expression of HYAL3 (probeID ILMN_1667432) in cerebellum in Alzheimer's disease cases and controls:College completion:Gene expression of HYAL3 (probeID ILMN_1667432) in temporal cortex in Alzheimer's disease cases and controls
3 52492707 2 NISCH T C exonic synonymous SNV NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N RS1541495 Triglycerides:HDL cholesterol:Waist hip ratio:Height (Pygmy height):Adiponectin levels
3 52510592 2 NISCH G A exonic nonsynonymous SNV NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I RS9856575 Comorbid depressive syndrome and alcohol dependence
3 52523405 2 NISCH C T exonic nonsynonymous SNV NISCH:NM_007184:exon17:c.C3167T:p.A1056V RS887515 Triglycerides:LDL cholesterol:HDL cholesterol change with statins:Triglycerides:HDL cholesterol:Waist hip ratio:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months)
3 53125922 2 RFT1 T C exonic synonymous SNV RFT1:NM_052859:exon13:c.A1623G:p.T541T RS11242 Irritible bowel syndrome:Neuroticism:LDL cholesterol:Triglycerides change with statins:Gene expression of ITIH4 in peripheral blood monocytes:Gene expression of SFMBT1 in peripheral blood monocytes:HDL cholesterol:Height:Waist hip ratio:Serum ratio of (arabinose)/(pantothenate):Adiponectin levels:Obesity with early age of onset (age >2)
3 53905308 2 ACTR8 T C exonic synonymous SNV ACTR8:NM_022899:exon11:c.A1518G:p.G506G RS1046677 Gene expression of probe 236242_at in lymphoblastoid cell lines:2 hour glucose:Total cholesterol change with statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene expression of ACTR8 in normal prepouch ileum
3 53906513 2 ACTR8 G A exonic synonymous SNV ACTR8:NM_022899:exon10:c.C1200T:p.I400I RS4687757 2 hour glucose:Total cholesterol change with statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene expression of ACTR8 in normal prepouch ileum
3 56597954 2 CCDC66 C T exonic synonymous SNV CCDC66:NM_001012506:exon4:c.C243T:p.T81T,CCDC66:NM_001141947:exon4:c.C345T:p.T115T RS6769055 Irritible bowel syndrome:Rheumatoid arthritis:Height:Maternal transmission distortion
3 56627048 2 CCDC66 A G exonic synonymous SNV CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q RS1388256 Height:Bipolar disorder:Refractive error
3 56627598 2 CCDC66 A G exonic nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R
3 56667682 2 FAM208A G C exonic nonsynonymous SNV FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R RS9835332 HOMA-B:HDL cholesterol:Triglycerides:Height:Gene expression:Urinary albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Height:Height:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in non-Alzheimer's disease samples:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in Alzheimer's disease cases and controls:Height:Years of education:College completion
3 56703746 2 FAM208A A C exonic synonymous SNV FAM208A:NM_001112736:exon5:c.T717G:p.V239V
3 56716922 2 FAM208A T G exonic nonsynonymous SNV FAM208A:NM_001112736:exon1:c.A113C:p.Q38P RS958755 Spine bone mineral density (BMD):Alzheimer's disease:HDL cholesterol:Triglycerides:Height:Gene expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with BMP2:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Height:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Years of education
3 56763316 2 ARHGEF3 G A exonic synonymous SNV ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H
3 56763328 2 ARHGEF3 T C exonic synonymous SNV ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G RS1565377 Triglycerides:HDL cholesterol:Height:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):College completion:Years of education
3 56771251 2 ARHGEF3 A C exonic nonsynonymous SNV ARHGEF3:NM_001128616:exon8:c.T1021G:p.L341V,ARHGEF3:NM_019555:exon8:c.T1003G:p.L335V,ARHGEF3:NM_001289698:exon9:c.T1021G:p.L341V,ARHGEF3:NM_001128615:exon11:c.T1099G:p.L367V RS3772219 Irritible bowel syndrome:Rheumatoid arthritis:Longstanding arthritis:Alzheimer's disease:Autism with low IQ:Gene expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with bmp:Gene expression of ARHGEF3 in blood:Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(2-stearoylglycerophosphocholine*):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):College completion
3 58081888 2 FLNB T C exonic synonymous SNV FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S
3 58109162 2 FLNB G A exonic nonsynonymous SNV FLNB:NM_001164317:exon21:c.G3469A:p.D1157N,FLNB:NM_001164318:exon21:c.G3469A:p.D1157N,FLNB:NM_001164319:exon21:c.G3469A:p.D1157N,FLNB:NM_001457:exon21:c.G3469A:p.D1157N RS1131356 Refractive error:Obesity with early age of onset (age >2)
3 58112440 2 FLNB A G exonic synonymous SNV FLNB:NM_001164317:exon24:c.A4173G:p.A1391A,FLNB:NM_001164318:exon24:c.A4173G:p.A1391A,FLNB:NM_001164319:exon24:c.A4173G:p.A1391A,FLNB:NM_001457:exon24:c.A4173G:p.A1391A RS2362903 HDL cholesterol
3 58117724 2 FLNB G A exonic synonymous SNV FLNB:NM_001164317:exon26:c.G4461A:p.P1487P
3 58118555 2 FLNB G A exonic nonsynonymous SNV FLNB:NM_001164318:exon26:c.G4411A:p.V1471M,FLNB:NM_001164319:exon26:c.G4411A:p.V1471M,FLNB:NM_001457:exon26:c.G4411A:p.V1471M,FLNB:NM_001164317:exon27:c.G4504A:p.V1502M RS12632456 Obesity with early age of onset (age >2):Refractive error
3 58154327 2 FLNB C T exonic synonymous SNV FLNB:NM_001164319:exon43:c.C7287T:p.S2429S,FLNB:NM_001164318:exon44:c.C7326T:p.S2442S,FLNB:NM_001457:exon44:c.C7359T:p.S2453S,FLNB:NM_001164317:exon45:c.C7452T:p.S2484S RS8640 Height:Obesity with early age of onset (age >2)
3 58416538 2 PDHB T C exonic synonymous SNV PDHB:NM_001315536:exon5:c.A381G:p.R127R,PDHB:NM_000925:exon6:c.A435G:p.R145R
3 64532476 2 ADAMTS9 G C exonic nonsynonymous SNV ADAMTS9:NM_001318781:exon31:c.C4938G:p.D1646E,ADAMTS9:NM_182920:exon32:c.C5022G:p.D1674E
3 69151152 2 ARL6IP5 C A exonic synonymous SNV ARL6IP5:NM_006407:exon2:c.C339A:p.I113I
3 75790822 2 ZNF717 A G exonic synonymous SNV ZNF717:NM_001128223:exon3:c.T123C:p.D41D,ZNF717:NM_001290208:exon3:c.T123C:p.D41D,ZNF717:NM_001290210:exon3:c.T123C:p.D41D,ZNF717:NM_001324027:exon3:c.T123C:p.D41D,ZNF717:NM_001324028:exon3:c.T102C:p.D34D,ZNF717:NM_001324026:exon4:c.T123C:p.D41D
3 87295049 2 CHMP2B T C exonic synonymous SNV CHMP2B:NM_001244644:exon2:c.T189C:p.T63T,CHMP2B:NM_014043:exon3:c.T312C:p.T104T RS11540913 Neuroblastoma (brain cancer):Birth weight
3 88188420 2 ZNF654 G A exonic nonsynonymous SNV ZNF654:NM_001350135:exon6:c.G1262A:p.S421N,ZNF654:NM_001350136:exon7:c.G965A:p.S322N,ZNF654:NM_001350137:exon7:c.G779A:p.S260N,ZNF654:NM_001350134:exon8:c.G1601A:p.S534N RS9813894 Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):Triglycerides change with statins:Body mass index (BMI):Obesity with early age of onset (age >2):College completion
3 88189341 2 ZNF654 T C exonic nonsynonymous SNV ZNF654:NM_001350135:exon6:c.T2183C:p.I728T,ZNF654:NM_001350136:exon7:c.T1886C:p.I629T,ZNF654:NM_001350137:exon7:c.T1700C:p.I567T,ZNF654:NM_001350134:exon8:c.T2522C:p.I841T RS7653652 Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):Triglycerides change with statins:Body mass index (BMI):Gene expression of ZNF654 [probe ILMN_6649] in osteoblasts treated with PGE2:Gene expression of CGGBP1 [probe ILMN_7424] in untreated osteoblasts:Gene expression of CGGBP1 [probe ILMN_7424] in osteoblasts treated with BMP2:Gene expression of ZNF654 in blood:Gene expression of CGGBP1 in blood:College completion:Obesity with early age of onset (age >2)
3 88199298 2 C3orf38 T C exonic synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T RS6551278 Fasting insulin:HOMA-IR:Triglycerides change with statins:Body mass index (BMI):Microalbuminuria:College completion:Obesity with early age of onset (age >2)
3 93593119 2 PROS1 T C exonic synonymous SNV PROS1:NM_000313:exon15:c.A2001G:p.P667P,PROS1:NM_001314077:exon16:c.A2097G:p.P699P RS6123 2 hour glucose:Fasting blood glucose:Fasting insulin:Body mass index (BMI):Diastolic blood pressure (DBP):Infant head circumference:Gene expression change of PROS1 (ENSG00000184500) in dendritic cells after treatment with Mycobacterium tuberculosis
3 97594261 2 CRYBG3 G A exonic nonsynonymous SNV CRYBG3:NM_153605:exon4:c.G4223A:p.G1408E RS6782766 Birth weight
3 97595379 2 CRYBG3 G A exonic nonsynonymous SNV CRYBG3:NM_153605:exon4:c.G5341A:p.V1781M RS6786354 Longstanding arthritis:Differential exon level expression of MINA [probe 2685785] in brain cortex:Alcohol dependence:Birth weight
3 97660106 2 CRYBG3 A C exonic nonsynonymous SNV CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H RS4857302 Differential exon level expression of MINA [probe 2685785] in brain cortex:Gene expression of MINA in peripheral blood monocytes:Serum concentration of 1-eicosatrienoylglycerophosphocholine*:Birth weight
3 97673268 2 RIOX2 A C exonic synonymous SNV RIOX2:NM_001042533:exon5:c.T753G:p.S251S,RIOX2:NM_001261829:exon5:c.T753G:p.S251S,RIOX2:NM_032778:exon5:c.T753G:p.S251S,RIOX2:NM_153182:exon5:c.T753G:p.S251S RS832079 Diabetic retinopathy in Type 2 diabetes mellitus
3 100174722 2 LNP1 G A exonic synonymous SNV LNP1:NM_001085451:exon4:c.G489A:p.E163E RS1132022 HDL cholesterol change with statins:Gene expression of NIT2 in peripheral blood monocytes
3 101484335 2 CEP97 G A exonic synonymous SNV CEP97:NM_001303401:exon11:c.G2361A:p.Q787Q,CEP97:NM_024548:exon11:c.G2538A:p.Q846Q RS2625282 LDL cholesterol change with statins:Total cholesterol change with statins:Height:Refractive error
3 105260596 2 ALCAM T C exonic synonymous SNV ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A
3 105422844 2 CBLB C T exonic synonymous SNV CBLB:NM_001321796:exon10:c.G1434A:p.T478T,CBLB:NM_001321799:exon10:c.G1434A:p.T478T,CBLB:NM_001321806:exon10:c.G801A:p.T267T,CBLB:NM_001321811:exon10:c.G801A:p.T267T,CBLB:NM_001321816:exon10:c.G801A:p.T267T,CBLB:NM_001321786:exon11:c.G1665A:p.T555T,CBLB:NM_001321788:exon11:c.G1581A:p.T527T,CBLB:NM_001321789:exon11:c.G1665A:p.T555T,CBLB:NM_001321790:exon11:c.G1647A:p.T549T,CBLB:NM_001321791:exon11:c.G1581A:p.T527T,CBLB:NM_001321793:exon11:c.G1581A:p.T527T,CBLB:NM_001321794:exon11:c.G1581A:p.T527T,CBLB:NM_001321795:exon11:c.G1581A:p.T527T,CBLB:NM_001321797:exon11:c.G1581A:p.T527T,CBLB:NM_001321798:exon11:c.G1581A:p.T527T,CBLB:NM_170662:exon11:c.G1581A:p.T527T,CBLB:NM_001321807:exon12:c.G801A:p.T267T,CBLB:NM_001321808:exon12:c.G801A:p.T267T,CBLB:NM_001321813:exon12:c.G801A:p.T267T,CBLB:NM_001321822:exon12:c.G252A:p.T84T,CBLB:NM_001321820:exon13:c.G393A:p.T131T RS2305037 Cystatin C in serum:Gene expression of CBLB (probeID ILMN_1685580) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CBLB (probeID ILMN_1685580) in cerebellum in Alzheimer's disease cases and controls
3 108403086 2 DZIP3 T C exonic synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P
3 113010466 2 CFAP44 T C exonic nonsynonymous SNV CFAP44:NM_001164496:exon35:c.A5503G:p.S1835G RS2291905 Diffuse-type gastric cancer:Aortic valve calcium
3 113022870 2 CFAP44 T C exonic nonsynonymous SNV CFAP44:NM_001164496:exon32:c.A4970G:p.H1657R RS4682484 Fasting blood glucose
3 121208833 2 POLQ G C exonic nonsynonymous SNV POLQ:NM_199420:exon16:c.C2945G:p.T982R RS3218649 LDL cholesterol change with statins:Rheumatoid arthritis:Acute lung injury following major trauma
3 121238749 2 POLQ G A exonic synonymous SNV POLQ:NM_199420:exon9:c.C1437T:p.G479G
3 121263720 2 POLQ C A exonic nonsynonymous SNV POLQ:NM_199420:exon2:c.G197T:p.R66I
3 121435621 2 GOLGB1 T C exonic synonymous SNV GOLGB1:NM_001256488:exon8:c.A1011G:p.Q337Q,GOLGB1:NM_001256486:exon9:c.A1251G:p.Q417Q,GOLGB1:NM_001256487:exon9:c.A1134G:p.Q378Q,GOLGB1:NM_004487:exon9:c.A1236G:p.Q412Q
3 121435624 2 GOLGB1 C T exonic synonymous SNV GOLGB1:NM_001256488:exon8:c.G1008A:p.E336E,GOLGB1:NM_001256486:exon9:c.G1248A:p.E416E,GOLGB1:NM_001256487:exon9:c.G1131A:p.E377E,GOLGB1:NM_004487:exon9:c.G1233A:p.E411E RS9812411 HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:Body mass index (BMI)
3 122134047 1 WDR5B C T exonic stopgain WDR5B:NM_019069:exon1:c.G329A:p.W110X
3 122186188 2 KPNA1 C T exonic nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N
3 122290579 2 DTX3L C T exonic synonymous SNV DTX3L:NM_138287:exon5:c.C2208T:p.A736A RS2036342 Hemoglobin (Hb):Body mass index (BMI):Serum ratio of (cysteine-glutathione disulfide)/(serotonin (5HT)):Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Diabetic retinopathy in Type 2 diabetes mellitus:Endometriosis
3 123303821 2 HACD2 G C exonic synonymous SNV HACD2:NM_001329783:exon1:c.C54G:p.G18G,HACD2:NM_198402:exon1:c.C54G:p.G18G
3 123357037 2 MYLK A G exonic synonymous SNV MYLK:NM_001321309:exon28:c.T4314C:p.N1438N,MYLK:NM_053026:exon28:c.T4635C:p.N1545N,MYLK:NM_053028:exon28:c.T4635C:p.N1545N,MYLK:NM_053025:exon29:c.T4842C:p.N1614N,MYLK:NM_053027:exon29:c.T4842C:p.N1614N RS820463 Suicide attempts in bipolar disorder:Suicide attempts in mood disorder patients
3 123418913 2 MYLK G A exonic synonymous SNV MYLK:NM_001321309:exon17:c.C2874T:p.N958N,MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N RS865358 Cystatin C in serum:Urinary albumin-to-creatinine ratio
3 123419288 2 MYLK C T exonic synonymous SNV MYLK:NM_001321309:exon17:c.G2499A:p.E833E,MYLK:NM_053026:exon17:c.G2820A:p.E940E,MYLK:NM_053028:exon17:c.G2820A:p.E940E,MYLK:NM_053025:exon18:c.G3027A:p.E1009E,MYLK:NM_053027:exon18:c.G3027A:p.E1009E RS12172926 Fasting insulin:Urinary albumin-to-creatinine ratio
3 123419573 2 MYLK G T exonic nonsynonymous SNV MYLK:NM_001321309:exon17:c.C2214A:p.D738E,MYLK:NM_053026:exon17:c.C2535A:p.D845E,MYLK:NM_053028:exon17:c.C2535A:p.D845E,MYLK:NM_053025:exon18:c.C2742A:p.D914E,MYLK:NM_053027:exon18:c.C2742A:p.D914E RS3732487 Simpson-Angus Scale:Fasting insulin:Urinary albumin-to-creatinine ratio
3 123419733 2 MYLK A G exonic nonsynonymous SNV MYLK:NM_001321309:exon17:c.T2054C:p.L685P,MYLK:NM_053026:exon17:c.T2375C:p.L792P,MYLK:NM_053028:exon17:c.T2375C:p.L792P,MYLK:NM_053025:exon18:c.T2582C:p.L861P,MYLK:NM_053027:exon18:c.T2582C:p.L861P RS3732486 Fasting insulin:Urinary albumin-to-creatinine ratio
3 123452838 2 MYLK G A exonic synonymous SNV MYLK:NM_001321309:exon9:c.C477T:p.T159T,MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T RS4678047 Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Triglycerides change with statins:Serum ratio of (alanine)/(proline):Birth weight
3 123634046 2 CCDC14 G A exonic synonymous SNV CCDC14:NM_001308317:exon12:c.C1842T:p.S614S,CCDC14:NM_022757:exon12:c.C2319T:p.S773S RS2700373 Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease:College completion:Years of education:Acute lung injury following major trauma
3 124351316 2 KALRN G A exonic synonymous SNV KALRN:NM_001322993:exon2:c.G135A:p.V45V,KALRN:NM_001322994:exon2:c.G135A:p.V45V,KALRN:NM_001322995:exon2:c.G135A:p.V45V,KALRN:NM_001322996:exon2:c.G135A:p.V45V,KALRN:NM_001322997:exon2:c.G135A:p.V45V,KALRN:NM_001322998:exon2:c.G135A:p.V45V,KALRN:NM_001322999:exon2:c.G135A:p.V45V,KALRN:NM_001323000:exon2:c.G135A:p.V45V,KALRN:NM_001323001:exon2:c.G135A:p.V45V,KALRN:NM_007064:exon2:c.G135A:p.V45V,KALRN:NM_001024660:exon35:c.G5226A:p.V1742V,KALRN:NM_001322988:exon35:c.G5226A:p.V1742V RS1708303 Crohn's disease, combined control dataset:Irritible bowel syndrome:Tardive dyskinesia:Simpson-Angus Scale
3 124351424 2 KALRN T C exonic synonymous SNV KALRN:NM_001322993:exon2:c.T243C:p.L81L,KALRN:NM_001322994:exon2:c.T243C:p.L81L,KALRN:NM_001322995:exon2:c.T243C:p.L81L,KALRN:NM_001322996:exon2:c.T243C:p.L81L,KALRN:NM_001322997:exon2:c.T243C:p.L81L,KALRN:NM_001322998:exon2:c.T243C:p.L81L,KALRN:NM_001322999:exon2:c.T243C:p.L81L,KALRN:NM_001323000:exon2:c.T243C:p.L81L,KALRN:NM_001323001:exon2:c.T243C:p.L81L,KALRN:NM_007064:exon2:c.T243C:p.L81L,KALRN:NM_001024660:exon35:c.T5334C:p.L1778L,KALRN:NM_001322988:exon35:c.T5334C:p.L1778L RS1660038 Crohn's disease, combined control dataset:Irritible bowel syndrome:Tardive dyskinesia
3 124692689 2 HEG1 C T exonic synonymous SNV HEG1:NM_020733:exon16:c.G3882A:p.P1294P RS2270778 Triglycerides:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral annular calcium
3 124802881 2 SLC12A8 A G exonic synonymous SNV SLC12A8:NM_001195483:exon13:c.T1998C:p.P666P,SLC12A8:NM_024628:exon14:c.T1998C:p.P666P
3 124802888 2 SLC12A8 C T exonic nonsynonymous SNV SLC12A8:NM_001195483:exon13:c.G1991A:p.R664Q,SLC12A8:NM_024628:exon14:c.G1991A:p.R664Q RS2981482 Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Serum ratio of (1-oleoylglycerol (1-monoolein))/(p-cresol sulfate)
3 124839470 2 SLC12A8 G A exonic nonsynonymous SNV SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L
3 125786879 2 SLC41A3 T C exonic nonsynonymous SNV SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A RS4234270 Salmonella-induced pyroptosis
3 126737268 2 PLXNA1 C A exonic synonymous SNV PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L RS4679323 Rheumatoid arthritis:Premature ovarian failure:LDL cholesterol change with statins:Total cholesterol:Tetrology of fallot:College completion:Mitral annular calcium
3 127983495 2 EEFSEC T C exonic synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D RS2811544 Total cholesterol:Parkinson's disease
3 128204951 2 GATA2 C T exonic nonsynonymous SNV GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T RS2335052 Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:HDL cholesterol:Autism with verbal ability:Height:Eosinophil count:Serum ratio of (benzoate)/(cysteine-glutathione disulfide):Prostate cancer:Aortic valve calcium:Tetrology of fallot:Pit-and-fissure surface caries in permanent dentition
3 128614185 2 ACAD9 A C exonic synonymous SNV ACAD9:NM_014049:exon4:c.A379C:p.R127R RS1680778 LDL cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
3 128627933 2 ACAD9 C T exonic synonymous SNV ACAD9:NM_014049:exon14:c.C1476T:p.P492P RS876755 LDL cholesterol:Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Total cholesterol:IGP69:Advanced age-related macular degeneration
3 128890350 2 CNBP G A exonic synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D RS4303883 Height
3 129281980 2 PLXND1 C T exonic nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N
3 129546729 2 TMCC1 T C exonic nonsynonymous SNV TMCC1:NM_001128224:exon3:c.A151G:p.S51G,TMCC1:NM_001349268:exon3:c.A493G:p.S165G,TMCC1:NM_001017395:exon4:c.A493G:p.S165G,TMCC1:NM_001349264:exon4:c.A493G:p.S165G,TMCC1:NM_001349265:exon4:c.A493G:p.S165G,TMCC1:NM_001349270:exon4:c.A151G:p.S51G,TMCC1:NM_001349263:exon5:c.A493G:p.S165G,TMCC1:NM_001349266:exon5:c.A493G:p.S165G,TMCC1:NM_001349269:exon5:c.A151G:p.S51G
3 132218623 2 DNAJC13 G T exonic nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4387T:p.A1463S,DNAJC13:NM_001329126:exon39:c.G4402T:p.A1468S RS3762672 Differential exon level expression of DNAJC13 [probe 2642848] in brain cortex:Differential exon level expression of DNAJC13 [probe 2642848] in peripheral blood mononuclear cells:Serum creatinine:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight
3 132360883 2 ACAD11 C T exonic nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H
3 133475722 1 TF C T exonic synonymous SNV TF:NM_001063:exon7:c.C739T:p.L247L RS1799852 HDL cholesterol:Serum ferritin:Serum transferrin:Autism:Neuroblastoma (brain cancer):Carbohydrate-deficient transferrin (percent of total transferrin):Infant head circumference:Aortic valve calcium
3 133485133 2 TF A G exonic nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V
3 134077470 2 AMOTL2 C G exonic nonsynonymous SNV AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D RS1353776 Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education
3 136574501 2 SLC35G2 A G exonic nonsynonymous SNV SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R RS1052618 Gene expression of probe 228799_at in lymphoblastoid cell lines:Schizophrenia:HDL cholesterol:Height:Body mass index (BMI):Gene expression of FNDC6 [probe ILMN_26767] in osteoblasts treated with BMP2:Resistance to kuru in aged women despite likely exposure:Birth weight:Hypertension (early onset hypertension)
3 138289221 2 CEP70 C T exonic nonsynonymous SNV CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N RS1673607 LDL cholesterol:Differential exon level expression of CEP70 [probe 2697514] in brain cortex:Differential exon level expression of CEP70 [probe 2697514] in peripheral blood mononuclear cells:HOMA-IR:Total cholesterol:LDL cholesterol:Gene expression of FAIM in CD4+ lymphocytes:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in non-Alzheimer's disease samples:Birth weight:Gene expression of FAIM (probeID ILMN_1690101) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases:Gene expression of FAIM (probeID ILMN_1690101) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's disease cases
3 142168331 2 ATR C T exonic synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q
3 148786108 2 HLTF C T exonic synonymous SNV HLTF:NM_001318934:exon8:c.G909A:p.T303T,HLTF:NM_001318935:exon8:c.G909A:p.T303T,HLTF:NM_003071:exon8:c.G909A:p.T303T,HLTF:NM_139048:exon8:c.G909A:p.T303T RS812249 Advanced age-related macular degeneration:Refractive error:Aortic valve calcium
3 148916235 2 CP T A exonic nonsynonymous SNV CP:NM_000096:exon9:c.A1632T:p.E544D RS701753 Serum creatinine
3 149678534 2 RNF13 C T exonic synonymous SNV RNF13:NM_183381:exon10:c.C789T:p.H263H,RNF13:NM_007282:exon11:c.C789T:p.H263H RS6768054 Irritible bowel syndrome:Tardive dyskinesia:Gene expression of COMMD2 in peripheral blood monocytes:Triglycerides:Stroke (pediatric stroke)
3 153839866 2 ARHGEF26 G C exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L RS12493885 Serum creatinine:Rheumatoid arthritis:Body mass index (BMI):Coronary artery calcification (CAC):Coronary artery disease (CAD)
3 153839959 2 ARHGEF26 C T exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.C178T:p.L60F,ARHGEF26:NM_001251963:exon2:c.C178T:p.L60F,ARHGEF26:NM_015595:exon2:c.C178T:p.L60F
3 153839960 2 ARHGEF26 T C exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P
3 153994596 2
3 155200562 2 PLCH1 C T exonic nonsynonymous SNV PLCH1:NM_014996:exon22:c.G3253A:p.D1085N,PLCH1:NM_001130960:exon23:c.G3277A:p.D1093N,PLCH1:NM_001349251:exon23:c.G3250A:p.D1084N
3 155241740 2 PLCH1 A G exonic synonymous SNV PLCH1:NM_001130960:exon10:c.T1380C:p.S460S,PLCH1:NM_001130961:exon10:c.T1380C:p.S460S,PLCH1:NM_001349250:exon10:c.T1380C:p.S460S,PLCH1:NM_014996:exon10:c.T1416C:p.S472S,PLCH1:NM_001349251:exon11:c.T1416C:p.S472S,PLCH1:NM_001349252:exon11:c.T1416C:p.S472S RS9840234 HDL cholesterol change with statins:LDL cholesterol:Total cholesterol:Triglycerides
3 158362441 2 GFM1 T C exonic synonymous SNV GFM1:NM_001308164:exon1:c.T18C:p.A6A,GFM1:NM_001308166:exon1:c.T18C:p.A6A,GFM1:NM_024996:exon1:c.T18C:p.A6A RS1864507 Total cholesterol:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference
3 158366900 2 GFM1 G A exonic nonsynonymous SNV GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I RS2303909 Triglycerides:Total cholesterol:Triglycerides:Gene expression of GFM1 [probe ILMN_9765] in osteoblasts treated with PGE2:Gene expression of MFSD1 [probe ILMN_29705] in osteoblasts treated with BMP2:Gene expression of LXN///GFM1 in blood:Gene expression of GFM1 in blood:Diastolic blood pressure (DBP):Hypertension (early onset hypertension):Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in non-Alzheimer's disease samples:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Progressive Supranuclear Palsy cases
3 170078232 2 SKIL C T exonic nonsynonymous SNV SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V RS3772173 HDL cholesterol change with statins:Chronic kidney disease:Serum creatinine:HDL cholesterol:Triglycerides
3 170825905 2 TNIK C G exonic synonymous SNV TNIK:NM_001161565:exon18:c.G2079C:p.A693A,TNIK:NM_001161566:exon18:c.G2079C:p.A693A,TNIK:NM_001161561:exon19:c.G2244C:p.A748A,TNIK:NM_001161562:exon19:c.G2244C:p.A748A,TNIK:NM_001161563:exon19:c.G2166C:p.A722A,TNIK:NM_001161564:exon19:c.G2166C:p.A722A,TNIK:NM_001161560:exon20:c.G2331C:p.A777A,TNIK:NM_015028:exon20:c.G2331C:p.A777A
3 170825920 2 TNIK G A exonic synonymous SNV TNIK:NM_001161565:exon18:c.C2064T:p.L688L,TNIK:NM_001161566:exon18:c.C2064T:p.L688L,TNIK:NM_001161561:exon19:c.C2229T:p.L743L,TNIK:NM_001161562:exon19:c.C2229T:p.L743L,TNIK:NM_001161563:exon19:c.C2151T:p.L717L,TNIK:NM_001161564:exon19:c.C2151T:p.L717L,TNIK:NM_001161560:exon20:c.C2316T:p.L772L,TNIK:NM_015028:exon20:c.C2316T:p.L772L RS2291900 Eye color:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Mitral annular calcium
3 170893070 2 TNIK G A exonic synonymous SNV TNIK:NM_001161560:exon9:c.C744T:p.N248N,TNIK:NM_001161561:exon9:c.C744T:p.N248N,TNIK:NM_001161562:exon9:c.C744T:p.N248N,TNIK:NM_001161563:exon9:c.C744T:p.N248N,TNIK:NM_001161564:exon9:c.C744T:p.N248N,TNIK:NM_001161565:exon9:c.C744T:p.N248N,TNIK:NM_001161566:exon9:c.C744T:p.N248N,TNIK:NM_015028:exon9:c.C744T:p.N248N RS12637875 Hip bone mineral density (BMD):Triglycerides change with statins:HDL cholesterol change with statins:Serum ratio of (3-methoxytyrosine)/(creatine):Age at death with kuru exposure
3 179096508 2 MFN1 C G exonic nonsynonymous SNV MFN1:NM_033540:exon14:c.C1568G:p.P523R
3 179298999 2 ACTL6A C T exonic synonymous SNV ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D RS1132429 Years of education
3 182790249 2 MCCC1 G A exonic synonymous SNV MCCC1:NM_020166:exon5:c.C396T:p.L132L RS7622479 Fasting insulin:HOMA-IR:Fasting blood glucose:Triglycerides:College completion
3 183476685 2 YEATS2 G A exonic nonsynonymous SNV YEATS2:NM_001351369:exon13:c.G1588A:p.V530I,YEATS2:NM_001351370:exon13:c.G1591A:p.V531I,YEATS2:NM_001351371:exon13:c.G1588A:p.V530I,YEATS2:NM_018023:exon13:c.G1588A:p.V530I RS262993 LDL cholesterol:Schizophrenia:Differential exon level expression of YEATS2 [probe 2655198] in brain cortex:Serum creatinine:Gene expression of ABCC5 in blood:Gene expression of MAP6D1 in blood:Epilepsy:Bipolar disorder:Primary rhegmatogenous retinal detachment:College completion:Parkinson's disease
3 183584473 1 PARL A G exonic synonymous SNV PARL:NM_001037639:exon3:c.T402C:p.G134G,PARL:NM_001324436:exon3:c.T402C:p.G134G,PARL:NM_001324437:exon3:c.T402C:p.G134G,PARL:NM_001324438:exon3:c.T402C:p.G134G,PARL:NM_018622:exon3:c.T402C:p.G134G
3 183975365 2 ECE2 C T exonic nonsynonymous SNV ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y RS7633387 Total cholesterol
3 184037533 2 EIF4G1 A G exonic nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A
3 185331165 2 SENP2 C A exonic nonsynonymous SNV SENP2:NM_021627:exon10:c.C902A:p.T301K RS6762208 Gene expression of HSS00090370 in liver:Irritible bowel syndrome:Serum creatinine:Lymphocyte count:College completion:Gene expression of SENP2 (probeID ILMN_1801121) in breast tumors:Mitral annular calcium
3 186337713 2 AHSG T C exonic nonsynonymous SNV AHSG:NM_001622:exon6:c.T743C:p.M248T RS4917 Spine bone mineral density (BMD):2 hour glucose:Serum ratio of (1-oleoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Obesity with early age of onset (age >2):Adiponectin levels:Activated partial thromboplastin time:P02765 protein abundance levels
3 186338425 2 AHSG A C exonic synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T RS1071592 HDL cholesterol change with statins:P02765 protein abundance levels:Activated partial thromboplastin time:Adiponectin levels:Infant head circumference
3 193334991 2 OPA1 G A exonic nonsynonymous SNV OPA1:NM_015560:exon4:c.G473A:p.S158N,OPA1:NM_130834:exon4:c.G473A:p.S158N,OPA1:NM_130836:exon4:c.G473A:p.S158N,OPA1:NM_130837:exon4:c.G473A:p.S158N RS7624750 Triglycerides:Differential exon level expression of ATP13A4 [probe 2711251] in peripheral blood mononuclear cells:Gene expression of ATP13A4 [probe 2711225] in peripheral blood mononuclear cells:Late onset Alzheimer's disease:Serum ratio of (1-palmitoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Aortic valve calcium:Adiponectin levels
3 193374964 2 OPA1 T C exonic synonymous SNV OPA1:NM_130831:exon20:c.T2001C:p.A667A,OPA1:NM_015560:exon21:c.T2109C:p.A703A,OPA1:NM_130832:exon21:c.T2055C:p.A685A,OPA1:NM_130833:exon21:c.T2112C:p.A704A,OPA1:NM_130834:exon22:c.T2163C:p.A721A,OPA1:NM_130835:exon22:c.T2166C:p.A722A,OPA1:NM_130836:exon22:c.T2220C:p.A740A,OPA1:NM_130837:exon23:c.T2274C:p.A758A RS9851685 Triglycerides:Childhood acute lymphoblastic leukemia:Aortic valve calcium:Adiponectin levels
3 194337901 2 TMEM44 T C exonic nonsynonymous SNV TMEM44:NM_001011655:exon6:c.A710G:p.Q237R,TMEM44:NM_001166306:exon6:c.A710G:p.Q237R,TMEM44:NM_138399:exon6:c.A710G:p.Q237R,TMEM44:NM_001166305:exon7:c.A851G:p.Q284R RS922282 Schizophrenia:Urinary albumin-to-creatinine ratio:Gene expression of FAM43A in blood:Diabetic retinopathy in Type 2 diabetes mellitus:College completion
3 194338423 2 TMEM44 C T exonic nonsynonymous SNV TMEM44:NM_001166305:exon6:c.G695A:p.R232H RS12695036 Gene expression of LSG1 [probe 221535_at] in lymphoblastoid cell lines
3 194373832 2 LSG1 T C exonic nonsynonymous SNV LSG1:NM_018385:exon8:c.A799G:p.K267E RS1675953 Chronic kidney disease:Serum creatinine:Rheumatoid arthritis:Body mass index (BMI)
3 194373833 2 LSG1 G A exonic synonymous SNV LSG1:NM_018385:exon8:c.C798T:p.T266T
3 196674749 2 PIGZ C T exonic nonsynonymous SNV PIGZ:NM_025163:exon3:c.G1019A:p.R340Q RS4916589 Fasting blood glucose:Cystatin C in serum:Urinary albumin-to-creatinine ratio:Gene expression of C21orf7 in blood:Serum ratio of (taurochenodeoxycholate)/(taurodeoxycholate)
3 196674879 2 PIGZ A G exonic synonymous SNV PIGZ:NM_025163:exon3:c.T889C:p.L297L RS12636891 Gene expression of PIGZ in peripheral blood monocytes:Triglycerides:Gene expression of PIGZ [transcript NM_025163, probe A_23_P143935] in liver
3 196674916 2 PIGZ A C exonic synonymous SNV PIGZ:NM_025163:exon3:c.T852G:p.A284A
3 196674972 2 PIGZ C T exonic nonsynonymous SNV PIGZ:NM_025163:exon3:c.G796A:p.A266T
3 196674973 2 PIGZ T C exonic synonymous SNV PIGZ:NM_025163:exon3:c.A795G:p.A265A
3 197495334 2 FYTTD1 G A exonic nonsynonymous SNV FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H RS3205525 Arthritis including non-Rheumatoid:Schizophrenia:HDL cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Aortic valve calcium
4 86738 2 ZNF595 A G exonic unknown UNKNOWN
4 87277 2 ZNF595 G C exonic unknown UNKNOWN
4 843695 2 GAK A G exonic synonymous SNV GAK:NM_001318134:exon24:c.T3582C:p.A1194A,GAK:NM_005255:exon27:c.T3819C:p.A1273A
4 858941 2 GAK T C exonic synonymous SNV GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A
4 1164277 2 SPON2 C G exonic nonsynonymous SNV SPON2:NM_012445:exon5:c.G724C:p.V242L,SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L RS2279279 Gene expression of CRIPAK [probe 241408_at] in lymphoblastoid cell lines:Urinary albumin-to-creatinine ratio
4 1165130 2 SPON2 G T exonic nonsynonymous SNV SPON2:NM_012445:exon3:c.C365A:p.A122E,SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E RS11247975 Fasting insulin:Rheumatoid arthritis:Urinary albumin-to-creatinine ratio:Serum concentration of decanoylcarnitine:Sporadic Creutzfeldt-Jakob disease:College completion
4 1165741 2 SPON2 A G exonic nonsynonymous SNV SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P RS922697 Gene expression of SPON2 [transcript NM_001128325, probe A_23_P121533] in liver
4 1374695 2 UVSSA C A exonic synonymous SNV UVSSA:NM_001317934:exon12:c.C1780A:p.R594R,UVSSA:NM_001317935:exon12:c.C1780A:p.R594R,UVSSA:NM_020894:exon12:c.C1780A:p.R594R
4 1377615 2 UVSSA A G exonic synonymous SNV UVSSA:NM_001317934:exon13:c.A1923G:p.S641S,UVSSA:NM_001317935:exon13:c.A1923G:p.S641S,UVSSA:NM_020894:exon13:c.A1923G:p.S641S
4 1388583 2 CRIPAK A G exonic nonsynonymous SNV CRIPAK:NM_175918:exon1:c.A284G:p.H95R
4 1818594 2 LETM1 C T exonic synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K
4 2044128 2 C4orf48 C T exonic nonsynonymous SNV C4orf48:NM_001141936:exon2:c.C50T:p.P17L,C4orf48:NM_001168243:exon2:c.C149T:p.P50L
4 2306053 2 ZFYVE28 A G exonic nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.T1924C:p.S642P,ZFYVE28:NM_001172659:exon8:c.T1804C:p.S602P,ZFYVE28:NM_020972:exon8:c.T2014C:p.S672P RS661301 HDL cholesterol
4 2826400 1 SH3BP2 T C exonic synonymous SNV SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H RS3213501 HDL cholesterol:Triglycerides:Advanced age-related macular degeneration:Gene expression of ADD1 (ENSG00000087274) in dendritic cells:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 2831383 1 SH3BP2 T G exonic synonymous SNV SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A RS231399 Arthritis including non-Rheumatoid:HOMA-IR:Fasting insulin:HOMA-B
4 3219613 2 HTT A C exonic synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L
4 4249909 1 TMEM128 C T exonic synonymous SNV TMEM128:NM_001297551:exon1:c.G21A:p.R7R,TMEM128:NM_001297552:exon1:c.G21A:p.R7R
4 4276132 2 LYAR T C exonic nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R
4 6293696 2 WFS1 C G exonic synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R
4 6302519 2 WFS1 G A exonic nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I RS1801212 Type 2 diabetes:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Gene expression of ANKRD26 in peripheral blood monocytes:Microalbuminuria:Variant Creutzfeldt-Jakob disease:Type 2 diabetes, end stage renal disease
4 6302707 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V RS1801206 Fasting blood glucose:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood monocytes:Mitral annular calcium
4 6303022 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N RS1801214 Fasting blood glucose:Type 2 diabetes:Type 2 diabetes, age of onset:Fasting blood glucose:Type 2 diabetes without obesity:Microalbuminuria:Type 2 diabetes (males):Type 2 diabetes:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Type 2 diabetes (females):Type 2 diabetes:Type 2 diabetes (males):Type 2 diabetes
4 6303955 2 WFS1 G A exonic synonymous SNV WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K RS1046314 Fasting blood glucose:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood monocytes:Mitral annular calcium
4 6304087 2 WFS1 A G exonic synonymous SNV WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S
4 6619165 2 MAN2B2 A G exonic synonymous SNV MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L
4 6698667 2 S100P T C exonic synonymous SNV S100P:NM_005980:exon2:c.T186C:p.D62D
4 6698706 2 S100P A C exonic synonymous SNV S100P:NM_005980:exon2:c.A225C:p.I75I
4 8228731 2 SH3TC1 T C exonic nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P
4 8228894 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D
4 8229218 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L
4 8229326 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P
4 8242466 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A
4 15690233 2 FAM200B C A exonic nonsynonymous SNV FAM200B:NM_001145191:exon2:c.C1633A:p.H545N RS6449160 Serum creatinine
4 17503433 2 QDPR C T exonic synonymous SNV QDPR:NM_001306140:exon3:c.G252A:p.S84S,QDPR:NM_000320:exon4:c.G345A:p.S115S RS3733570 LDL cholesterol:Childhood acute lymphoblastic leukemia:Coronary artery disease (CAD):Salmonella-induced pyroptosis
4 17586703 2 LAP3 T C exonic synonymous SNV LAP3:NM_015907:exon6:c.T648C:p.A216A RS3733576 Gene expression of probe 235105_at in lymphoblastoid cell lines:Gene expression of MED28 [probe 222636_at] in lymphoblastoid cell lines:Gene expression of FAM184B [probe 233823_at] in lymphoblastoid cell lines:Gene expression of MED28 [probe 228992_at] in lymphoblastoid cell lines:Gene expression of LAP3 [probe 217933_s_at] in lymphoblastoid cell lines:Gene expression of probe 227504_s_at in lymphoblastoid cell lines:Gene expression of MED28 [probe 222635_s_at] in lymphoblastoid cell lines:Gene expression of probe 227505_at in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235105_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[233823_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235288_at] in lymphoblastoid cell lines:Gene expression of LAP3 probe[217933_s_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227504_s_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[228992_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227505_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[222635_s_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[222636_at] in lymphoblastoid cell lines:Gene expression of LAP3 in lymphoblastoid cell lines:Gene expression of KIAA1276 in lymphoblastoid cell lines:Serum creatinine:Height
4 22439914 2 ADGRA3 A C exonic synonymous SNV ADGRA3:NM_145290:exon8:c.T1050G:p.P350P
4 25236017 1 PI4K2B T C exonic nonsynonymous SNV PI4K2B:NM_018323:exon1:c.T232C:p.S78P
4 25253995 1 PI4K2B C T exonic synonymous SNV PI4K2B:NM_018323:exon2:c.C321T:p.A107A RS313567 Triglycerides
4 37903756 2 TBC1D1 T C exonic nonsynonymous SNV TBC1D1:NM_001253912:exon2:c.T40C:p.S14P,TBC1D1:NM_015173:exon2:c.T40C:p.S14P RS2279027 Differential exon level expression of TBC1D1 [probe 2723770] in peripheral blood mononuclear cells:Differential exon level expression of TBC1D1 [probe 2723770] in brain cortex:HOMA-B:Total cholesterol:HDL cholesterol:Lp-PLA2 activity:Tetrology of fallot:Salmonella-induced pyroptosis
4 38016395 2 TBC1D1 T G exonic nonsynonymous SNV TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G
4 40121562 2 N4BP2 G A exonic nonsynonymous SNV N4BP2:NM_018177:exon9:c.G1831A:p.D611N,N4BP2:NM_001318359:exon10:c.G1591A:p.D531N RS794001 APOA2 (apolipoprotein AII):Rheumatoid arthritis:Rheumatoid arthritis:Height:Neuroblastoma (brain cancer):Gene expression of N4BP2 in blood:Years of education:College completion:Tetrology of fallot
4 40428010 2 RBM47 T C exonic nonsynonymous SNV RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V RS278981 LDL cholesterol:Simpson-Angus Scale:Urinary albumin-to-creatinine ratio:Microalbuminuria:Serum ratio of (10-nonadecenoate (19:1n9))/(phenyllactate (PLA)):Sporadic Creutzfeldt-Jakob disease
4 40438576 2 RBM47 A G exonic synonymous SNV RBM47:NM_001098634:exon5:c.T1212C:p.G404G RS2307046 Irritible bowel syndrome:Differential exon level expression of RBM47 [probe 2766803] in peripheral blood mononuclear cells:Variant Creutzfeldt-Jakob disease:Birth weight
4 40440215 2 RBM47 T C exonic synonymous SNV RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E RS2291580 HDL cholesterol:Advanced age-related macular degeneration
4 40440854 2 RBM47 G C exonic synonymous SNV RBM47:NM_019027:exon3:c.C57G:p.S19S,RBM47:NM_001098634:exon4:c.C57G:p.S19S
4 41992677 2 SLC30A9 C G exonic synonymous SNV SLC30A9:NM_006345:exon1:c.C9G:p.P3P
4 42003671 2 SLC30A9 A G exonic nonsynonymous SNV SLC30A9:NM_006345:exon2:c.A148G:p.M50V RS1047626 Gene expression of SLC30A9 [probe 229500_at] in lymphoblastoid cell lines:Gene expression of probe 236097_at in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in lymphoblastoid cell lines:Neuroticism:Differential exon level expression of SLC30A9 [probe 2725395] in brain cortex:Major depressive disorder:Lp-PLA2 activity:Diastolic blood pressure (DBP):Gene expression of SLC30A9 [probeset 229500_at] in sputum
4 42022464 2 SLC30A9 C A exonic synonymous SNV SLC30A9:NM_006345:exon4:c.C366A:p.G122G RS15857 Gene expression of probe 236097_at in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 229500_at] in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in lymphoblastoid cell lines:Serum ratio of (cysteine-glutathione disulfide)/(indolepropionate):Diastolic blood pressure (DBP)
4 47589203 2 ATP10D G A exonic synonymous SNV ATP10D:NM_020453:exon22:c.G3921A:p.T1307T RS1316874 Rheumatoid arthritis
4 54011603 1 SCFD2 C T exonic synonymous SNV SCFD2:NM_152540:exon5:c.G1458A:p.T486T RS17082453 Triglycerides
4 56262374 2 TMEM165 A G exonic synonymous SNV TMEM165:NM_018475:exon1:c.A18G:p.P6P
4 56309992 2 CLOCK A G exonic synonymous SNV CLOCK:NM_004898:exon20:c.T1764C:p.N588N,CLOCK:NM_001267843:exon21:c.T1764C:p.N588N RS3736544 Parkinson's disease
4 57219592 2 AASDH G A exonic synonymous SNV AASDH:NM_001286670:exon6:c.C99T:p.D33D,AASDH:NM_001286668:exon8:c.C1254T:p.D418D,AASDH:NM_001286669:exon8:c.C1095T:p.D365D,AASDH:NM_001323893:exon8:c.C1095T:p.D365D,AASDH:NM_001323899:exon8:c.C423T:p.D141D,AASDH:NM_001286671:exon9:c.C1554T:p.D518D,AASDH:NM_001286672:exon9:c.C1554T:p.D518D,AASDH:NM_001323890:exon9:c.C1554T:p.D518D,AASDH:NM_001323892:exon9:c.C1554T:p.D518D,AASDH:NM_181806:exon9:c.C1554T:p.D518D RS6554348 Fasting insulin:HOMA-B:Gene expression of AASDH in peripheral blood monocytes:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression change of PPAT (ENSG00000128059) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of PPAT (ENSG00000128059) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of AASDH (ENSG00000157426) in dendritic cells
4 57843320 2 NOA1 A G exonic synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C
4 57976234 1 IGFBP7 T C exonic nonsynonymous SNV IGFBP7:NM_001253835:exon1:c.A284G:p.K95R,IGFBP7:NM_001553:exon1:c.A284G:p.K95R
4 68374597 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon10:c.G1839A:p.S613S
4 68380215 2 CENPC G A exonic nonsynonymous SNV CENPC:NM_001812:exon8:c.C1021T:p.L341F RS11250 Parkinson's disease (PD):Differential exon level expression of CENPC1 [probe 2771679] in peripheral blood mononuclear cells:Differential exon level expression of CENPC1 [probe 2771679] in brain cortex:Total cholesterol:Chronic kidney disease
4 68384008 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon7:c.G696A:p.S232S RS355510 Total cholesterol:Chronic kidney disease
4 69203551 2 YTHDC1 A T exonic synonymous SNV YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_001330698:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S
4 71705262 2 GRSF1 A G exonic nonsynonymous SNV GRSF1:NM_002092:exon1:c.T283C:p.S95P
4 72618296 2 GC T C exonic nonsynonymous SNV GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R
4 72618323 2 GC G T exonic nonsynonymous SNV GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K
4 73991006 2 ANKRD17 T C exonic synonymous SNV ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A
4 74863997 2 CXCL5 T C exonic synonymous SNV CXCL5:NM_002994:exon2:c.A168G:p.Q56Q RS425535 Stabilized warfarin dose:HOMA-IR:Fasting insulin:HOMA-B:Serum concentration of threonine
4 79387464 2 FRAS1 A G exonic nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E RS7684722 Tardive dyskinesia
4 79455714 2 FRAS1 C G exonic synonymous SNV FRAS1:NM_025074:exon71:c.C11037G:p.P3679P RS4975070 Fasting blood glucose:LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2):Years of education
4 79455733 2 FRAS1 C T exonic synonymous SNV FRAS1:NM_025074:exon71:c.C11056T:p.L3686L RS4975139 Spine bone mineral density (BMD):Fasting blood glucose:LDL cholesterol:Total cholesterol:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru exposure:Years of education:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2):College completion
4 79832509 2 BMP2K A C exonic synonymous SNV BMP2K:NM_198892:exon16:c.A2808C:p.P936P RS12649750 Triglycerides:Comorbid depressive syndrome and alcohol dependence:College completion:Salmonella-induced pyroptosis
4 83788344 2 SEC31A A T exonic synonymous SNV SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G
4 83838217 2 THAP9 G A exonic nonsynonymous SNV THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I
4 84191031 2 COQ2 A G exonic synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D RS6535454 Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy):Aortic valve calcium
4 84376743 2 HELQ A T exonic nonsynonymous SNV HELQ:NM_001297755:exon1:c.T104A:p.V35E,HELQ:NM_001297758:exon1:c.T104A:p.V35E,HELQ:NM_001297759:exon1:c.T104A:p.V35E,HELQ:NM_133636:exon1:c.T104A:p.V35E
4 88258483 2 HSD17B11 T C exonic nonsynonymous SNV HSD17B11:NM_016245:exon7:c.A848G:p.Q283R RS9991501 Fasting blood glucose:Total cholesterol:Microalbuminuria
4 89397091 2 HERC5 A G exonic nonsynonymous SNV HERC5:NM_016323:exon12:c.A1492G:p.M498V RS7699006 Serum creatinine:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or 6)])/(oleate (18:1n9))
4 89415396 2 HERC5 T C exonic synonymous SNV HERC5:NM_016323:exon18:c.T2358C:p.L786L
4 89670155 2 FAM13A C T exonic synonymous SNV FAM13A:NM_001265580:exon9:c.G1047A:p.P349P,FAM13A:NM_001265578:exon10:c.G1089A:p.P363P,FAM13A:NM_001015045:exon11:c.G1131A:p.P377P,FAM13A:NM_001265579:exon11:c.G1131A:p.P377P,FAM13A:NM_014883:exon17:c.G2109A:p.P703P RS3756050 Fasting blood glucose:HDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Salmonella-induced pyroptosis:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC) ratio percent predicted (in nonasthmatic participants)
4 95377495 1 PDLIM5 A G exonic nonsynonymous SNV PDLIM5:NM_001256429:exon3:c.A197G:p.H66R
4 95539267 2 PDLIM5 G A exonic nonsynonymous SNV PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T
4 95578588 2 PDLIM5 G A exonic nonsynonymous SNV PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N
4 102564583 2
4 103514658 2 NFKB1 T C exonic synonymous SNV NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_001319226:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A
4 106317429 2 PPA2 C G exonic nonsynonymous SNV PPA2:NM_176867:exon3:c.G348C:p.K116N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176869:exon9:c.G846C:p.K282N RS13787 Lp-PLA2 activity:Height:Microalbuminuria:Gene expression of PPA2 (probeID ILMN_1755041) in cerebellum in Alzheimer's disease cases and controls:College completion:Proteomic variation in lymphoblastoid cell lines (Protein: PPA2, Spot: 1685):Years of education:Infant head circumference:Birth weight:Gene expression of PPA2 (probeID ILMN_1755041) in temporal cortex in Alzheimer's disease cases and controls
4 106861730 2 NPNT A G exonic nonsynonymous SNV NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V RS4340795 HDL cholesterol change with statins:Asthma, childhood onset:Body mass index (BMI):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 107249244 2 AIMP1 C G exonic nonsynonymous SNV AIMP1:NM_001142415:exon4:c.C235G:p.P79A,AIMP1:NM_001142416:exon4:c.C307G:p.P103A,AIMP1:NM_004757:exon4:c.C235G:p.P79A
4 108641300 2 PAPSS1 T C exonic synonymous SNV PAPSS1:NM_005443:exon1:c.A36G:p.K12K RS973126 Eye color:Total cholesterol:Serum creatinine:Gene expression of PAPSS1 in CD4+ lymphocytes:Gene expression of PAPSS1 [transcript NM_005443, probe A_23_P144465] in liver:Serum concentration of guanosine:Gene expression of PAPSS1 in normal prepouch ileum:Obesity with early age of onset (age >2)
4 110737389 2 GAR1 T C exonic synonymous SNV GAR1:NM_018983:exon2:c.T69C:p.G23G,GAR1:NM_032993:exon2:c.T69C:p.G23G
4 113066831 2 C4orf32 G A exonic nonsynonymous SNV C4orf32:NM_152400:exon1:c.G95A:p.G32E
4 113199075 2 TIFA A G exonic synonymous SNV TIFA:NM_052864:exon2:c.T498C:p.Y166Y RS701759 Triglycerides:Systolic blood pressure (SBP):Obesity with early age of onset (age >2)
4 113539969 2 ZGRF1 T C exonic nonsynonymous SNV ZGRF1:NM_001350397:exon6:c.A1229G:p.N410S,ZGRF1:NM_018392:exon6:c.A1229G:p.N410S RS7696816 Schizophrenia:Serum ratio of (1-oleoylglycerophosphocholine)/(erythritol):Systolic blood pressure (SBP):Variant Creutzfeldt-Jakob disease
4 119736796 2 SEC24D A C exonic synonymous SNV SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P RS2389688 Gene expression change of SEC24D (ENSG00000150961) in dendritic cells after treatment with Mycobacterium tuberculosis
4 122742217 2 CCNA2 T C exonic nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V RS769242 Triglycerides
4 125591687 2 ANKRD50 A G exonic synonymous SNV ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N RS3733471 Microalbuminuria:Infant head circumference
4 125592065 2 ANKRD50 C A exonic synonymous SNV ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A RS10018651 Gene expression of ANKRD50 in peripheral blood monocytes:Microalbuminuria:Coronary artery disease (CAD):Infant head circumference
4 128565000 2 INTU A G exonic synonymous SNV INTU:NM_015693:exon2:c.A471G:p.R157R RS3749507 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy)
4 128584661 2 INTU C T exonic synonymous SNV INTU:NM_015693:exon4:c.C894T:p.I298I
4 128628100 2 INTU A C exonic nonsynonymous SNV INTU:NM_015693:exon12:c.A2247C:p.L749F
4 128807219 2 PLK4 T A exonic nonsynonymous SNV PLK4:NM_001190799:exon4:c.T598A:p.S200T,PLK4:NM_001190801:exon5:c.T571A:p.S191T,PLK4:NM_014264:exon5:c.T694A:p.S232T RS3811740 2 hour glucose:Triglycerides:Advanced age-related macular degeneration (geographic atrophy):Infant head circumference:Advanced age-related macular degeneration
4 128814492 2 PLK4 G A exonic synonymous SNV PLK4:NM_001190799:exon10:c.G2145A:p.G715G,PLK4:NM_001190801:exon11:c.G2118A:p.G706G,PLK4:NM_014264:exon11:c.G2241A:p.G747G
4 128814964 2 PLK4 G T exonic nonsynonymous SNV PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D RS17012739 Barnes Akathisia Rating Scale:2 hour glucose:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
4 128842761 2 MFSD8 G A exonic nonsynonymous SNV MFSD8:NM_152778:exon12:c.C1268T:p.A423V RS3733319 Waist hip ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
4 128949799 2 ABHD18 C T exonic nonsynonymous SNV ABHD18:NM_001319306:exon10:c.C590T:p.A197V,ABHD18:NM_001319305:exon11:c.C725T:p.A242V,ABHD18:NM_001319307:exon11:c.C464T:p.A155V
4 128949850 2 ABHD18 A G exonic nonsynonymous SNV ABHD18:NM_001319306:exon10:c.A641G:p.N214S,ABHD18:NM_001319305:exon11:c.A776G:p.N259S,ABHD18:NM_001319307:exon11:c.A515G:p.N172S
4 128949929 2 ABHD18 C A exonic nonsynonymous SNV ABHD18:NM_001319306:exon10:c.C720A:p.S240R,ABHD18:NM_001319305:exon11:c.C855A:p.S285R,ABHD18:NM_001319307:exon11:c.C594A:p.S198R
4 129867280 2 SCLT1 T A exonic nonsynonymous SNV SCLT1:NM_144643:exon16:c.A1321T:p.S441C RS10028124 PROP taste detection threshold
4 140005294 2 ELF2 A G exonic synonymous SNV ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I
4 141543997 2 TBC1D9 G A exonic synonymous SNV TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H RS1560440 Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
4 141598126 2 TBC1D9 C T exonic synonymous SNV TBC1D9:NM_015130:exon6:c.G981A:p.Q327Q
4 141600320 2 TBC1D9 A G exonic synonymous SNV TBC1D9:NM_015130:exon5:c.T627C:p.L209L RS4956329 HDL cholesterol
4 144135718 2 USP38 G A exonic synonymous SNV USP38:NM_001290325:exon9:c.G2589A:p.R863R,USP38:NM_032557:exon9:c.G2589A:p.R863R,USP38:NM_001290326:exon10:c.G1224A:p.R408R RS4285045 HDL cholesterol:Serum creatinine:Cystatin C in serum:Height:Systolic blood pressure (SBP):Adiponectin levels:Salmonella-induced pyroptosis
4 144467104 2 SMARCA5 T C exonic synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N
4 153633359 2
4 153896358 2 FHDC1 C T exonic nonsynonymous SNV FHDC1:NM_033393:exon11:c.C1915T:p.R639C
4 153897770 2 FHDC1 G A exonic synonymous SNV FHDC1:NM_033393:exon11:c.G3327A:p.T1109T
4 154387597 2 TMEM131L G C exonic synonymous SNV TMEM131L:NM_001131007:exon1:c.G48C:p.A16A,TMEM131L:NM_015196:exon1:c.G48C:p.A16A
4 155507590 2 FGA T C exonic nonsynonymous SNV FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A RS6050 Plasma fibrin D-dimer levels:Gamma fibrinogen levels:Venous thrombosis:Venous thrombosis
4 158065038 2 GLRB T C exonic synonymous SNV GLRB:NM_000824:exon8:c.T831C:p.T277T,GLRB:NM_001166060:exon8:c.T831C:p.T277T,GLRB:NM_001166061:exon8:c.T831C:p.T277T
4 159076826 2 FAM198B C T exonic synonymous SNV FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S RS6830702 HOMA-B:Fasting blood glucose:Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy):Birth weight
4 159601676 2 ETFDH C T exonic nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I RS11559290 Lp-PLA2 mass:HDL cholesterol:Triglycerides:Birth weight:Primary rhegmatogenous retinal detachment
4 164048199 2 NAF1 G C exonic nonsynonymous SNV NAF1:NM_001128931:exon8:c.C1102G:p.L368V
4 164085425 2 NAF1 T C exonic nonsynonymous SNV NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V RS4691896 HOMA-B:Urinary albumin-to-creatinine ratio:Bipolar disorder
4 165890654 2 TRIM61 C T exonic synonymous SNV TRIM61:NM_001012414:exon3:c.G501A:p.R167R
4 165890663 2 TRIM61 C T exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.G492A:p.M164I
4 165890772 2 TRIM61 T C exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.A383G:p.H128R
4 165890981 2 TRIM61 A C exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.T174G:p.F58L
4 165891013 2 TRIM61 G C exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.C142G:p.H48D
4 169799448 2 PALLD A G exonic nonsynonymous SNV PALLD:NM_001166110:exon2:c.A406G:p.S136G
4 169928842 2 CBR4 G T exonic nonsynonymous SNV CBR4:NM_032783:exon2:c.C208A:p.L70M RS2877380 LDL cholesterol:Chronic kidney disease:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:PROP taste detection threshold
4 170581570 2 CLCN3 G A exonic nonsynonymous SNV CLCN3:NM_001243374:exon1:c.G50A:p.S17N
4 174090004 2 GALNT7 G A exonic synonymous SNV GALNT7:NM_017423:exon1:c.G18A:p.G6G
4 175237408 2 CEP44 T C exonic synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T RS1553669 Gene expression of KIAA1712 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of GLRA3 in liver:Gene expression of KIAA1712 in liver:Eye color:Gene expression of KIAA1712 [transcript NM_001145314, probe A_23_P385911] in liver:Age at death with kuru exposure:Gene expression of CEP44 in normal prepouch ileum:Tetrology of fallot:College completion
4 178281754 2 NEIL3 G A exonic nonsynonymous SNV NEIL3:NM_018248:exon9:c.G1558A:p.G520R RS1876268 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Serum concentration of citrate:Birth weight
4 178359960 2 AGA G C exonic nonsynonymous SNV AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S
4 184426387 2 ING2 C T exonic synonymous SNV ING2:NM_001564:exon1:c.C39T:p.A13A RS8872 Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Serum creatinine:Obesity with early age of onset (age >2):Diabetic retinopathy in Type 2 diabetes mellitus
4 185587165 2 PRIMPOL A G exonic nonsynonymous SNV PRIMPOL:NM_001300767:exon5:c.A116G:p.Q39R,PRIMPOL:NM_001300768:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345891:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345892:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345893:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345895:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345896:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345899:exon6:c.A503G:p.Q168R,PRIMPOL:NM_152683:exon6:c.A503G:p.Q168R
4 185686032 2 ACSL1 C T exonic synonymous SNV ACSL1:NM_001286711:exon14:c.G1305A:p.L435L,ACSL1:NM_001286708:exon15:c.G1407A:p.L469L,ACSL1:NM_001286710:exon15:c.G1407A:p.L469L,ACSL1:NM_001995:exon15:c.G1407A:p.L469L,ACSL1:NM_001286712:exon16:c.G894A:p.L298L
4 186111639 2 CFAP97 T C exonic nonsynonymous SNV CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A RS386518075 Years of education:Birth weight:Breast cancer
4 186112111 2 CFAP97 G A exonic synonymous SNV CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P RS3108237 PROP taste detection threshold:Salmonella-induced pyroptosis
4 187519206 2 FAT1 C G exonic nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N
4 190876204 1 FRG1 G A exonic synonymous SNV FRG1:NM_004477:exon5:c.G330A:p.K110K
4 190876242 1 FRG1 G A exonic nonsynonymous SNV FRG1:NM_004477:exon5:c.G368A:p.G123E
4 190883001 1 FRG1 C G exonic nonsynonymous SNV FRG1:NM_004477:exon8:c.C654G:p.D218E
5 5447607 1 ICE1 A G exonic synonymous SNV ICE1:NM_015325:exon8:c.A492G:p.E164E RS4702269 Comorbid depressive syndrome and alcohol dependence
5 5462607 1 ICE1 A G exonic nonsynonymous SNV ICE1:NM_015325:exon13:c.A3160G:p.T1054A RS3806873 Comorbid depressive syndrome and alcohol dependence:Amyotrophic lateral sclerosis (ALS) with >2 C9orf72 hexanucleotide repeats
5 5462620 1 ICE1 G A exonic nonsynonymous SNV ICE1:NM_015325:exon13:c.G3173A:p.G1058D RS3806874 Comorbid depressive syndrome and alcohol dependence:Amyotrophic lateral sclerosis (ALS) with >2 C9orf72 hexanucleotide repeats
5 5489383 1 ICE1 G A exonic synonymous SNV ICE1:NM_015325:exon19:c.G6741A:p.P2247P RS16900247 LDL cholesterol:Total cholesterol
5 6633042 1 NSUN2 C T exonic synonymous SNV NSUN2:NM_001193455:exon1:c.G51A:p.E17E,NSUN2:NM_017755:exon1:c.G51A:p.E17E
5 6651970 1 SRD5A1 A G exonic synonymous SNV SRD5A1:NM_001047:exon2:c.A309G:p.P103P,SRD5A1:NM_001324323:exon3:c.A90G:p.P30P RS3822430 Body mass index (BMI):Salmonella-induced pyroptosis:College completion:Subjective response to d-amphetamine and the risk for amphetamine addiction:Gene expression of SRD5A1 in normal prepouch ileum
5 6652009 1 SRD5A1 G A exonic synonymous SNV SRD5A1:NM_001047:exon2:c.G348A:p.A116A,SRD5A1:NM_001324323:exon3:c.G129A:p.A43A RS8192186 Subjective response to d-amphetamine and the risk for amphetamine addiction
5 6656210 1 SRD5A1 G A exonic synonymous SNV SRD5A1:NM_001324322:exon2:c.G339A:p.T113T,SRD5A1:NM_001047:exon3:c.G480A:p.T160T,SRD5A1:NM_001324323:exon4:c.G261A:p.T87T
5 21975219 2 CDH12 A G exonic synonymous SNV CDH12:NM_001317227:exon3:c.T507C:p.V169V,CDH12:NM_001317228:exon4:c.T507C:p.V169V,CDH12:NM_004061:exon6:c.T507C:p.V169V
5 21975244 2 CDH12 A C exonic nonsynonymous SNV CDH12:NM_001317227:exon3:c.T482G:p.L161W,CDH12:NM_001317228:exon4:c.T482G:p.L161W,CDH12:NM_004061:exon6:c.T482G:p.L161W
5 32403346 2 ZFR C T exonic nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I RS4867440 Spine bone mineral density (BMD):3-Aminoisobutyrate concentration:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
5 34811137 1 RAI14 T G exonic synonymous SNV RAI14:NM_001145523:exon7:c.T447G:p.L149L,RAI14:NM_001145520:exon8:c.T471G:p.L157L,RAI14:NM_001145522:exon8:c.T471G:p.L157L,RAI14:NM_015577:exon8:c.T471G:p.L157L,RAI14:NM_001145521:exon9:c.T471G:p.L157L,RAI14:NM_001145525:exon10:c.T480G:p.L160L
5 34824555 1 RAI14 G T exonic nonsynonymous SNV RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S RS1048944 Rheumatoid arthritis
5 37294473 1 NUP155 T C exonic synonymous SNV NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L RS1045908 Triglycerides:Height:Body mass index (BMI):Bipolar disorder:Gene expression of C5orf42 (ENSG00000197603) in dendritic cells:Birth weight
5 37364443 2 NUP155 C T exonic synonymous SNV NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L
5 38496637 1 LIFR C T exonic nonsynonymous SNV LIFR:NM_001127671:exon13:c.G1732A:p.D578N,LIFR:NM_002310:exon13:c.G1732A:p.D578N RS3729740 Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab+5-FU/leucovorin+oxaliplatin regime)
5 38950776 2 RICTOR G A exonic synonymous SNV RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S RS2115949 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
5 40852451 2 CARD6 C G exonic synonymous SNV CARD6:NM_032587:exon3:c.C1017G:p.T339T
5 43509348 2 C5orf34 T A exonic nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S
5 49103224 2
5 52096889 2 PELO C A exonic nonsynonymous SNV PELO:NM_015946:exon2:c.C661A:p.L221M RS1499280 Schizophrenia:Gene expression of PELO in liver:Mitral annular calcium:Aortic valve calcium
5 52856504 2 NDUFS4 G C exonic synonymous SNV NDUFS4:NM_001318051:exon1:c.G12C:p.V4V,NDUFS4:NM_002495:exon1:c.G12C:p.V4V RS2279516 Gene expression of NDUFS4 [transcript NM_002495, probe A_23_P257198] in liver:College completion
5 52942083 2 NDUFS4 A C exonic synonymous SNV NDUFS4:NM_001318051:exon3:c.A198C:p.G66G,NDUFS4:NM_002495:exon3:c.A198C:p.G66G RS31304 Neuroticism:Fasting blood glucose:Triglycerides change with statins:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
5 52942197 2 NDUFS4 A G exonic synonymous SNV NDUFS4:NM_001318051:exon3:c.A312G:p.R104R,NDUFS4:NM_002495:exon3:c.A312G:p.R104R RS31303 Differential exon level expression of NDUFS4 [probe 2809437] in peripheral blood mononuclear cells:Fasting insulin:Triglycerides:LDL cholesterol:Total cholesterol:Waist hip ratio:College completion
5 53606295 2 ARL15 T C exonic synonymous SNV ARL15:NM_019087:exon1:c.A15G:p.R5R RS35941 Irritible bowel syndrome:Total cholesterol:LDL cholesterol:Serum creatinine:Chronic kidney disease:Gene expression of PKP3 in peripheral blood monocytes:Systolic blood pressure (SBP):PROP taste detection threshold:Transmission distortion:Maternal transmission distortion:Advanced age-related macular degeneration (geographic atrophy):Salmonella-induced pyroptosis
5 53814394 2 SNX18 T C exonic synonymous SNV SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G
5 54459961 2 GPX8 A G exonic nonsynonymous SNV GPX8:NM_001008397:exon3:c.A545G:p.K182R,GPX8:NM_001306197:exon3:c.A392G:p.K131R,GPX8:NM_001306201:exon3:c.A266G:p.K89R RS381852 Schizophrenia:Alzheimer's disease:HOMA-B:Fasting insulin:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Adiponectin levels:Years of education:Diabetic retinopathy in Type 2 diabetes mellitus:College completion
5 56161787 2 MAP3K1 G A exonic synonymous SNV MAP3K1:NM_005921:exon6:c.G1284A:p.T428T RS832575 Eye color:Gene expression of NP_714917.1 in blood cells in Celiac disease:Gene expression of MGC33648 [probe ILMN_28708] in osteoblasts:Lp-PLA2 mass:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Temporal cortex:Gene expression of C5orf35 in CD4+ lymphocytes:Waist hip ratio:Height:Gene expression of C5orf35 in blood:Gene expression of C5orf35 [probeset 238465_at] in sputum:Bipolar disorder:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in non-Alzheimer's disease samples:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Progressive Supranuclear Palsy cases
5 56177743 2 MAP3K1 G A exonic nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2716A:p.V906I RS832582 Gene expression of NP_714917.1 in blood cells in Celiac disease:Gene expression of MGC33648 [probe ILMN_28708] in osteoblasts:Gene expression of MAP3K1 [probe ILMN_1757636] in peripheral leukocytes:Lp-PLA2 mass:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Temporal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Cerebellum:Gene expression of C5orf35 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Gene expression of C5orf35 in blood:Gene expression of C5orf35 [probeset 238465_at] in sputum:Bipolar disorder:Gene expression of C5ORF35 in liver:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in non-Alzheimer's disease samples:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases:Primary rhegmatogenous retinal detachment:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases:Type 2 diabetes:Gene expression of C5orf35 in normal prepouch ileum
5 56178217 2 MAP3K1 A C exonic synonymous SNV MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R RS832583 Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Temporal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Cerebellum:Height:Bipolar disorder:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C5orf35 in normal prepouch ileum:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls
5 56526783 2 GPBP1 G A exonic synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G
5 60241142 2 NDUFAF2 G A exonic synonymous SNV NDUFAF2:NM_174889:exon1:c.G60A:p.K20K RS158921 Serum creatinine:LDL cholesterol:Years of education:Parkinson's disease:College completion:Obesity with early age of onset (age >2)
5 70281273 2 NAIP C T exonic nonsynonymous SNV NAIP:NM_022892:exon10:c.G1117A:p.V373M,NAIP:NM_001346870:exon12:c.G1603A:p.V535M,NAIP:NM_004536:exon12:c.G1603A:p.V535M
5 70751818 2 BDP1 T G exonic nonsynonymous SNV BDP1:NM_018429:exon1:c.T114G:p.D38E RS3748043 PROP taste detection threshold
5 70800538 2 BDP1 G A exonic nonsynonymous SNV BDP1:NM_018429:exon16:c.G2332A:p.V778M RS3761967 Spine bone mineral density (BMD):Differential exon level expression of BDP1 [probe 2814601] in brain cortex:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of BDP1 [probeset 224227_s_at] in sputum:Primary rhegmatogenous retinal detachment
5 70806457 2 BDP1 G A exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.G3538A:p.G1180S RS715748 Spine bone mineral density (BMD):Microalbuminuria:Urinary albumin-to-creatinine ratio:PROP taste detection threshold:Primary rhegmatogenous retinal detachment
5 70806649 2 BDP1 T A exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.T3730A:p.F1244I RS1961760 Microalbuminuria:Urinary albumin-to-creatinine ratio
5 70806711 2 BDP1 C G exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.C3792G:p.I1264M RS715747 Triglycerides:Triglycerides
5 70806958 2 BDP1 G A exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.G4039A:p.V1347M RS6886336 Triglycerides:PROP taste detection threshold
5 70809169 2 BDP1 A G exonic nonsynonymous SNV BDP1:NM_018429:exon19:c.A4405G:p.K1469E RS1698063 Urinary albumin-to-creatinine ratio:Microalbuminuria:Primary rhegmatogenous retinal detachment
5 70837295 2 BDP1 A C exonic nonsynonymous SNV BDP1:NM_018429:exon29:c.A6037C:p.I2013L
5 70840233 2 BDP1 C T exonic synonymous SNV BDP1:NM_018429:exon31:c.C6462T:p.L2154L RS182190 Microalbuminuria:Urinary albumin-to-creatinine ratio
5 70849021 2 BDP1 G T exonic synonymous SNV BDP1:NM_018429:exon35:c.G7074T:p.P2358P
5 70945075 2 MCCC2 A G exonic synonymous SNV MCCC2:NM_022132:exon14:c.A1368G:p.A456A
5 72184098 2 TNPO1 C T exonic synonymous SNV TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D RS17606 LDL cholesterol:HOMA-B:HOMA-IR:Total cholesterol:Height:PROP taste detection threshold
5 73981270 2 HEXB T C exonic nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S
5 74681773 2 COL4A3BP T C exonic synonymous SNV COL4A3BP:NM_031361:exon12:c.A1293G:p.E431E,COL4A3BP:NM_005713:exon13:c.A1371G:p.E457E,COL4A3BP:NM_001130105:exon14:c.A1755G:p.E585E RS698912 LDL cholesterol:Fasting insulin:HOMA-IR:Fasting blood glucose:LDL cholesterol:Total cholesterol:Total cholesterol:LDL cholesterol:Body mass index (BMI):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy)
5 77784738 2 LHFPL2 A G exonic synonymous SNV LHFPL2:NM_005779:exon5:c.T669C:p.N223N RS2241566 Fasting insulin:HOMA-B:HOMA-IR:Triglycerides:HDL cholesterol:Bipolar disorder
5 80149981 2 MSH3 A G exonic nonsynonymous SNV MSH3:NM_002439:exon21:c.A2846G:p.Q949R RS184967 Arthritis including non-Rheumatoid:Schizophrenia:HDL cholesterol:Total cholesterol:Serum creatinine
5 81549216 2 ATG10 C T exonic nonsynonymous SNV ATG10:NM_031482:exon7:c.C635T:p.T212M,ATG10:NM_001131028:exon8:c.C635T:p.T212M RS1864183 Gene expression of LOC92270 [probe 228816_at] in lymphoblastoid cell lines:Gene expression of RPS23 [probe 227722_at] in lymphoblastoid cell lines:Gene expression of RPS23 in lymphoblastoid cell lines:Gene expression of LOC92270 in lymphoblastoid cell lines:Gene expression of RPS23 in Frontal cortex:Gene expression of RPS23 in Caudal pons:Gene expression of RPS23 in Temporal cortex:Gene expression of RPS23 in peripheral blood monocytes:Triglycerides:Total cholesterol:Gene expression of RPS23 in CD4+ lymphocytes:Waist hip ratio:Gene expression of AC010598.6 in blood:PROP taste detection threshold:Gene expression of RPS23 in liver:Gene expression of RPS23 (probeID ILMN_1772459) in temporal cortex in Alzheimer's disease cases:Gene expression of RPS23 (probeID ILMN_1772459) in whole blood:Gene expression of RPS23 in normal prepouch ileum:Gene expression of RPS23 (probeID ILMN_1772459) in cerebellum in non-Alzheimer's disease samples:Tetrology of fallot:Gene expression of RPS23 (probeID ILMN_1772459) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RPS23 (probeID ILMN_1772459) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of RPS23 (probeID ILMN_1772459) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RPS23 (probeID ILMN_1772459) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of RPS23 (probeID ILMN_1772459) in cerebellum in Alzheimer's disease cases:Gene expression of ATP6AP1L in normal prepouch ileum
5 82648977 2 XRCC4 T G exonic synonymous SNV XRCC4:NM_001318012:exon8:c.T927G:p.S309S,XRCC4:NM_003401:exon8:c.T921G:p.S307S,XRCC4:NM_022406:exon8:c.T927G:p.S309S,XRCC4:NM_022550:exon8:c.T921G:p.S307S RS1056503 HDL cholesterol:Maternal transmission distortion
5 82833145 2 VCAN G A exonic synonymous SNV VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q,VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q RS2548541 Triglycerides:Waist hip ratio
5 82833369 2 VCAN A G exonic nonsynonymous SNV VCAN:NM_001164097:exon7:c.A1586G:p.K529R,VCAN:NM_004385:exon8:c.A4547G:p.K1516R RS309559 LDL cholesterol:Abnormal Involuntary Movement Scale:Simpson-Angus Scale:Triglycerides change with statins:Waist hip ratio:Gene expression of CSPG2 in blood:Bipolar disorder:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Hypertension (early onset hypertension)
5 89769728 2 MBLAC2 T C exonic nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A
5 95084131 2 RHOBTB3 G A exonic synonymous SNV RHOBTB3:NM_014899:exon4:c.G510A:p.A170A RS34896 Spine bone mineral density (BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of RHOBTB3 in blood:Systolic blood pressure (SBP):Age at death with kuru exposure:College completion:Years of education
5 95091194 2 RHOBTB3 C T exonic synonymous SNV RHOBTB3:NM_014899:exon6:c.C777T:p.Y259Y RS34898 Fasting blood glucose:Triglycerides:Years of education:Acute lung injury following major trauma
5 95091201 2 RHOBTB3 A G exonic nonsynonymous SNV RHOBTB3:NM_014899:exon6:c.A784G:p.N262D RS34899 Spine bone mineral density (BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of RHOBTB3 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Nausea in response to topiramate treatment in healthy volunteers:Age at death with kuru exposure:Years of education:College completion:Acute lung injury following major trauma
5 96350710 2 LNPEP G A exonic nonsynonymous SNV LNPEP:NM_005575:exon13:c.G2287A:p.A763T,LNPEP:NM_175920:exon13:c.G2245A:p.A749T RS2303138 Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Total cholesterol change with statins:LDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of LRAP in blood:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Tetrology of fallot:Graves' disease
5 98109838 2 RGMB A C exonic nonsynonymous SNV RGMB:NM_001012761:exon3:c.A187C:p.S63R
5 102891695 2 NUDT12 A G exonic synonymous SNV NUDT12:NM_001300741:exon4:c.T847C:p.L283L,NUDT12:NM_031438:exon4:c.T901C:p.L301L
5 108516459 2 FER C T exonic nonsynonymous SNV FER:NM_001308031:exon9:c.C953T:p.A318V,FER:NM_001308028:exon16:c.C1535T:p.A512V,FER:NM_005246:exon18:c.C2060T:p.A687V
5 108516535 1 FER A T exonic synonymous SNV FER:NM_001308031:exon9:c.A1029T:p.G343G,FER:NM_001308028:exon16:c.A1611T:p.G537G,FER:NM_005246:exon18:c.A2136T:p.G712G
5 108516541 1 FER T C exonic synonymous SNV FER:NM_001308031:exon9:c.T1035C:p.Y345Y,FER:NM_001308028:exon16:c.T1617C:p.Y539Y,FER:NM_005246:exon18:c.T2142C:p.Y714Y
5 109117171 2 MAN2A1 A G exonic synonymous SNV MAN2A1:NM_002372:exon9:c.A1449G:p.Q483Q RS13189822 Childhood acute lymphoblastic leukemia:Triglycerides change with statins:Gene expression of UPRT in peripheral blood monocytes:Gene expression of MRRF in peripheral blood monocytes:Gene expression of UBQLN4 in peripheral blood monocytes:Gene expression of SPPL2A in peripheral blood monocytes:Gene expression of PJA2 in normal prepouch ileum
5 109181682 2 MAN2A1 A T exonic synonymous SNV MAN2A1:NM_002372:exon18:c.A2817T:p.S939S RS3186988 Total cholesterol:LDL cholesterol:Triglycerides change with statins:College completion:Years of education:Obesity with early age of onset (age >2):Refractive error
5 112162854 2 APC T C exonic synonymous SNV APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y RS2229992 Height:Body mass index (BMI):Infant head circumference:Colorectal cancer vs adenoma controls (males):Gene expression of SRP19 (ENSG00000153037) in dendritic cells:Gene expression of APC (ENSG00000134982) in dendritic cells treated with Mycobacterium tuberculosis:Obesity with early age of onset (age >2)
5 112175770 2 APC G A exonic synonymous SNV APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T RS41115 PROP taste detection threshold:Gene expression of SRP19 in normal prepouch ileum:Infant head circumference:Gene expression of REEP5 in normal prepouch ileum
5 112176325 2 APC G A exonic synonymous SNV APC:NM_001127511:exon14:c.G4980A:p.G1660G,APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G RS42427 PROP taste detection threshold:Gene expression of SRP19 in normal prepouch ileum:Infant head circumference:Gene expression of REEP5 in normal prepouch ileum
5 112176756 2 APC T A exonic nonsynonymous SNV APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D RS459552 C10:2 / C16-OH:C10:2:Height:Radiation response to therapy (radiation AUC):Body mass index (BMI):PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy)
5 112177171 2 APC G A exonic synonymous SNV APC:NM_001127511:exon14:c.G5826A:p.P1942P,APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P RS465899 PROP taste detection threshold:Infant head circumference:Gene expression of REEP5 in normal prepouch ileum:Gene expression of SRP19 in normal prepouch ileum
5 112328377 2 DCP2 A G exonic synonymous SNV DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L RS3733969 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Birth weight:Gene expression change of REEP5 (ENSG00000129625) in dendritic cells after treatment with Mycobacterium tuberculosis
5 112349070 2 DCP2 T C exonic synonymous SNV DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A RS9326869 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Birth weight
5 112379289 2 MCC G A exonic synonymous SNV MCC:NM_002387:exon15:c.C2124T:p.A708A,MCC:NM_001085377:exon17:c.C2694T:p.A898A
5 112384802 2 MCC G A exonic synonymous SNV MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D RS6594664 Body mass index (BMI):Paternal transmission distortion:Maternal transmission distortion:Transmission distortion:Obesity with early age of onset (age >2)
5 112399791 2 MCC G A exonic synonymous SNV MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N RS2227947 Major depressive disorder:2 hour glucose:Total cholesterol:Gene expression of DCP2 in peripheral blood monocytes:Comorbid depressive syndrome and alcohol dependence:Aortic valve calcium:College completion
5 112439941 2 MCC T C exonic nonsynonymous SNV MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R
5 112479004 2 MCC T C exonic synonymous SNV MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T
5 118484804 2 DMXL1 G A exonic synonymous SNV DMXL1:NM_001290321:exon18:c.G3282A:p.E1094E,DMXL1:NM_001290322:exon18:c.G2763A:p.E921E,DMXL1:NM_005509:exon18:c.G3282A:p.E1094E,DMXL1:NM_001349239:exon19:c.G3282A:p.E1094E,DMXL1:NM_001349240:exon19:c.G3282A:p.E1094E RS7734532 Total cholesterol change with statins
5 123983915 2 ZNF608 G T exonic nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2162A:p.T721N RS6862252 LDL cholesterol:Schizophrenia:Abnormal Involuntary Movement Scale:Partial epilepsy:Asthma:Hypertension (early onset hypertension):Infant head circumference
5 123984763 2 ZNF608 C T exonic synonymous SNV ZNF608:NM_020747:exon4:c.G1314A:p.A438A RS7708070 Partial epilepsy:Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension (early onset hypertension):Infant head circumference
5 130766662 2 RAPGEF6 T C exonic nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R RS1291602 Gene expression of CDC42SE2 [probe 1552613_s_at] in lymphoblastoid cell lines:Gene expression of probe 229026_at in lymphoblastoid cell lines:Gene expression of CDC42SE2 [probe 1552612_at] in lymphoblastoid cell lines:Premature ovarian failure:Total cholesterol:LDL cholesterol:HDL cholesterol:Triglycerides change with statins:Lp-PLA2 mass:Height:Gene expression of CDC42SE2 in blood:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease
5 132098242 2 8-Sep A G exonic synonymous SNV SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N
5 132099999 2 8-Sep A G exonic synonymous SNV SEPT8:NM_001098811:exon3:c.T264C:p.Y88Y,SEPT8:NM_001098812:exon3:c.T264C:p.Y88Y,SEPT8:NM_001098813:exon3:c.T84C:p.Y28Y,SEPT8:NM_001300798:exon3:c.T264C:p.Y88Y,SEPT8:NM_001300799:exon3:c.T264C:p.Y88Y,SEPT8:NM_015146:exon3:c.T264C:p.Y88Y RS30507 Gene expression of 39692 in CEU-CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting insulin
5 133956668 2 SAR1B G A exonic synonymous SNV SAR1B:NM_016103:exon3:c.C133T:p.L45L,SAR1B:NM_001033503:exon4:c.C133T:p.L45L RS11558540 Gene expression of PHF15 (ENSG00000043143) in dendritic cells treated with Mycobacterium tuberculosis
5 137347498 2 FAM13B G A exonic synonymous SNV FAM13B:NM_001101801:exon4:c.C153T:p.S51S,FAM13B:NM_001101800:exon5:c.C507T:p.S169S,FAM13B:NM_016603:exon5:c.C507T:p.S169S
5 137717265 2 KDM3B G A exonic nonsynonymous SNV KDM3B:NM_016604:exon6:c.G766A:p.A256T
5 138713959 2 SLC23A1 A C exonic nonsynonymous SNV SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A
5 140048267 2 WDR55 T C exonic nonsynonymous SNV WDR55:NM_017706:exon4:c.T451C:p.C151R
5 145439647 2 SH3RF2 T C exonic nonsynonymous SNV SH3RF2:NM_152550:exon9:c.T1774C:p.W592R
5 145890028 2 TCERG1 A G exonic synonymous SNV TCERG1:NM_001040006:exon21:c.A3057G:p.S1019S,TCERG1:NM_006706:exon22:c.A3120G:p.S1040S RS4705103 Fasting insulin:HOMA-IR:Microalbuminuria:Infant head circumference
5 149008403 2 ARHGEF37 A G exonic synonymous SNV ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L RS1056993 Eye color:2 hour glucose:Chronic kidney disease:Parkinson's disease:Gene expression of ARHGEF37 in normal prepouch ileum
5 149360877 2 SLC26A2 T C exonic nonsynonymous SNV SLC26A2:NM_000112:exon3:c.T1721C:p.I574T
5 149919739 2 NDST1 G C exonic synonymous SNV NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T RS1290147 Waist hip ratio:Refractive error
5 150639439 2 GM2A A G exonic nonsynonymous SNV GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V RS153478 Gene expression of probe 1559776_at in lymphoblastoid cell lines:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Fasting blood glucose:Gene expression of GM2A in peripheral blood monocytes:Gene expression of NAG18 in peripheral blood monocytes:Triglycerides:Parkinson's disease
5 150647156 2 GM2A T C exonic synonymous SNV GM2A:NM_001167607:exon4:c.T516C:p.I172I RS9324686 Triglycerides:HDL cholesterol
5 153413390 2 FAM114A2 C T exonic nonsynonymous SNV FAM114A2:NM_001317995:exon3:c.G154A:p.G52S,FAM114A2:NM_001317994:exon4:c.G364A:p.G122S,FAM114A2:NM_018691:exon4:c.G364A:p.G122S,FAM114A2:NM_001317993:exon5:c.G364A:p.G122S RS2578377 Hip bone mineral density (BMD):Differential exon level expression of C5orf3 [probe 2882611] in brain cortex:Differential exon level expression of C5orf3 [probe 2882608] in brain cortex:Differential exon level expression of C5orf3 [probe 2882608] in peripheral blood mononuclear cells:Differential exon level expression of C5orf3 [probe 2882607] in brain cortex:Differential exon level expression of C5orf3 [probe 2882611] in peripheral blood mononuclear cells:HDL cholesterol:LDL cholesterol:Refractive error:Aortic valve calcium:Primary rhegmatogenous retinal detachment:Gene expression of FAM114A2 in normal prepouch ileum:Birth weight
5 153429459 2 MFAP3 T C exonic synonymous SNV MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D
5 153432733 2 MFAP3 T C exonic synonymous SNV MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A
5 153432970 2 MFAP3 C T exonic synonymous SNV MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D RS2255493 HDL cholesterol:LDL cholesterol:Gene expression of FAM114A2 in normal prepouch ileum:Birth weight:Aortic valve calcium
5 154268902 2 GEMIN5 C T exonic synonymous SNV GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A RS816739 Systolic blood pressure (SBP):Aortic valve calcium
5 154291409 2 GEMIN5 C T exonic nonsynonymous SNV GEMIN5:NM_001252156:exon15:c.G2042A:p.R681Q,GEMIN5:NM_015465:exon15:c.G2045A:p.R682Q RS1974777 HOMA-B:HDL cholesterol change with statins:Gene expression of C5orf4 in blood:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
5 154300940 2 GEMIN5 A C exonic synonymous SNV GEMIN5:NM_001252156:exon10:c.T1422G:p.T474T,GEMIN5:NM_015465:exon10:c.T1425G:p.T475T RS348739 HOMA-B:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels:Advanced age-related macular degeneration
5 154306972 2 GEMIN5 T C exonic synonymous SNV GEMIN5:NM_001252156:exon7:c.A1050G:p.L350L,GEMIN5:NM_015465:exon7:c.A1053G:p.L351L RS2258437 HOMA-B:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
5 156479424 2 HAVCR1 A C exonic synonymous SNV HAVCR1:NM_012206:exon3:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T,HAVCR1:NM_001308156:exon4:c.T621G:p.T207T
5 156479509 2 HAVCR1 A G exonic nonsynonymous SNV HAVCR1:NM_012206:exon3:c.T536C:p.L179P,HAVCR1:NM_001173393:exon4:c.T536C:p.L179P,HAVCR1:NM_001308156:exon4:c.T536C:p.L179P RS1553316 LDL cholesterol:Triglycerides change with statins:Triglycerides:LDL cholesterol:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy)
5 156482459 2 HAVCR1 G T exonic synonymous SNV HAVCR1:NM_012206:exon2:c.C132A:p.S44S,HAVCR1:NM_001173393:exon3:c.C132A:p.S44S,HAVCR1:NM_001308156:exon3:c.C132A:p.S44S
5 157164962 2 THG1L T C exonic nonsynonymous SNV THG1L:NM_001317824:exon5:c.T299C:p.L100P,THG1L:NM_001317825:exon5:c.T320C:p.L107P,THG1L:NM_017872:exon5:c.T695C:p.L232P,THG1L:NM_001317826:exon6:c.T509C:p.L170P RS2270812 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Differential exon level expression of THG1L [probe 2837492] in peripheral blood mononuclear cells:Total cholesterol change with statins:Triglycerides change with statins:Gene expression of THG1L in peripheral blood monocytes:Nicotine dependence (smoking):Body mass index (BMI):Gene expression of ADAM19 in blood:Gene expression of THG1L (probeID ILMN_2093720) in temporal cortex in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of SOX30 (ENSG00000039600) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in Alzheimer's disease cases and controls:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in Alzheimer's disease cases:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of THG1L (probeID ILMN_2093720) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of THG1L (probeID ILMN_2093720) in cerebellum in non-Alzheimer's disease samples:Gene expression of THG1L (probeID ILMN_2093720) in temporal cortex in Alzheimer's disease cases
5 167645888 2 TENM2 T C exonic synonymous SNV TENM2:NM_001080428:exon19:c.T4275C:p.N1425N,TENM2:NM_001122679:exon23:c.T4965C:p.N1655N RS1363560 HOMA-IR:Rheumatoid arthritis:Height
5 167850748 2 WWC1 A G exonic synonymous SNV WWC1:NM_001161661:exon11:c.A1485G:p.S495S,WWC1:NM_001161662:exon11:c.A1485G:p.S495S,WWC1:NM_015238:exon11:c.A1485G:p.S495S
5 167868779 2 WWC1 A G exonic synonymous SNV WWC1:NM_001161661:exon16:c.A2373G:p.K791K,WWC1:NM_001161662:exon16:c.A2373G:p.K791K,WWC1:NM_015238:exon16:c.A2373G:p.K791K RS3733981 Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Acute lung injury following major trauma:Advanced age-related macular degeneration (geographic atrophy)
5 167868809 2 WWC1 C T exonic synonymous SNV WWC1:NM_001161661:exon16:c.C2403T:p.V801V,WWC1:NM_001161662:exon16:c.C2403T:p.V801V,WWC1:NM_015238:exon16:c.C2403T:p.V801V RS3733980 Gene expression of AC020894.5 in blood:Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Acute lung injury following major trauma:Hypertension (early onset hypertension)
5 167943827 2 RARS G A exonic synonymous SNV RARS:NM_002887:exon13:c.G1497A:p.A499A RS653568 Triglycerides:Differential exon level expression of RARS [probe 2839673] in peripheral blood mononuclear cells:Differential exon level expression of RARS [probe 2839673] in brain cortex:Triglycerides change with statins:Partial epilepsy:Asthma:Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis
5 171533656 2 STK10 C T exonic synonymous SNV STK10:NM_005990:exon6:c.G756A:p.S252S
5 171849471 2 SH3PXD2B G A exonic synonymous SNV SH3PXD2B:NM_001017995:exon2:c.C105T:p.S35S,SH3PXD2B:NM_001308175:exon2:c.C105T:p.S35S RS17074773 Fasting insulin:LDL cholesterol change with statins
5 172196711 2 DUSP1 G T exonic synonymous SNV DUSP1:NM_004417:exon3:c.C600A:p.I200I RS2431663 Urinary albumin-to-creatinine ratio:Microalbuminuria
5 176025938 2 GPRIN1 T C exonic nonsynonymous SNV GPRIN1:NM_052899:exon2:c.A898G:p.M300V
5 176517461 2 FGFR4 T G exonic synonymous SNV FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_001291980:exon3:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R
5 176517797 2 FGFR4 C T exonic nonsynonymous SNV FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_001291980:exon4:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L RS376618 Cystatin C in serum:Height:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RAB24 in blood:Gene expression of AC146507.3///MXD3 in blood
5 176518784 2 FGFR4 C T exonic synonymous SNV FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_001291980:exon6:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R
5 176885178 2 DBN1 A G exonic nonsynonymous SNV DBN1:NM_004395:exon12:c.T1657C:p.S553P,DBN1:NM_080881:exon13:c.T1663C:p.S555P
5 176916516 2 PDLIM7 C T exonic synonymous SNV PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P RS335462 Salmonella-induced pyroptosis:Gene expression of PDLIM7 (ENSG00000196923) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of PDLIM7 (ENSG00000196923) in dendritic cells after treatment with Mycobacterium tuberculosis
5 176930135 2 DOK3 G A exonic nonsynonymous SNV DOK3:NM_001144876:exon5:c.C598T:p.R200C,DOK3:NM_001144875:exon6:c.C904T:p.R302C RS28376231 Salmonella-induced pyroptosis
5 176951276 2 FAM193B A G exonic nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P
5 179260153 2 SQSTM1 C T exonic synonymous SNV SQSTM1:NM_003900:exon6:c.C876T:p.D292D,SQSTM1:NM_001142298:exon7:c.C624T:p.D208D,SQSTM1:NM_001142299:exon7:c.C624T:p.D208D RS4935 Gene expression of SQSTM1 in Caudal pons:Gene expression of SQSTM1 in Frontal cortex:Gene expression of SQSTM1 in Temporal cortex:Gene expression of SQSTM1 in Cerebellum:Comorbid depressive syndrome and alcohol dependence:Years of education:Salmonella-induced pyroptosis:Refractive error
5 180276402 2 ZFP62 C T exonic nonsynonymous SNV ZFP62:NM_001172638:exon2:c.G2093A:p.R698K,ZFP62:NM_152283:exon3:c.G1994A:p.R665K
5 180278393 2 ZFP62 C G exonic startloss ZFP62:NM_001172638:exon2:c.G102C:p.M34I,ZFP62:NM_152283:exon3:c.G3C:p.M1?
6 1742794 2 GMDS A G exonic synonymous SNV GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D
6 3154871 2 TUBB2A A C exonic synonymous SNV TUBB2A:NM_001069:exon4:c.T564G:p.S188S,TUBB2A:NM_001310315:exon4:c.T309G:p.S103S
6 3287118 2 SLC22A23 T C exonic synonymous SNV SLC22A23:NM_001286455:exon7:c.A678G:p.S226S,SLC22A23:NM_015482:exon7:c.A1521G:p.S507S,SLC22A23:NM_021945:exon8:c.A678G:p.S226S RS6910086 Irritible bowel syndrome:Urinary albumin-to-creatinine ratio:Tetrology of fallot:Parkinson's disease
6 5086070 2 PPP1R3G A G exonic synonymous SNV PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A
6 5086211 2 PPP1R3G G C exonic synonymous SNV PPP1R3G:NM_001145115:exon1:c.G492C:p.L164L
6 7230680 2 RREB1 G T exonic nonsynonymous SNV RREB1:NM_001003698:exon10:c.G2348T:p.G783V,RREB1:NM_001003699:exon10:c.G2348T:p.G783V,RREB1:NM_001003700:exon10:c.G2348T:p.G783V,RREB1:NM_001168344:exon10:c.G2348T:p.G783V
6 7247248 2 RREB1 T C exonic nonsynonymous SNV RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P RS2256596 Childhood acute lymphoblastic leukemia:LDL cholesterol:Height:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Alzheimer's disease cases and controls
6 11190626 2 NEDD9 A G exonic synonymous SNV NEDD9:NM_001271033:exon4:c.T1029C:p.V343V,NEDD9:NM_006403:exon5:c.T1476C:p.V492V,NEDD9:NM_001142393:exon6:c.T1476C:p.V492V RS941982 Triglycerides
6 12122645 2 HIVEP1 A G exonic nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2617G:p.T873A
6 12294258 2 EDN1 A G exonic synonymous SNV EDN1:NM_001168319:exon3:c.A315G:p.E105E,EDN1:NM_001955:exon3:c.A318G:p.E106E RS5369 LDL cholesterol change with statins:Waist hip ratio
6 13814340 2 MCUR1 T C exonic nonsynonymous SNV MCUR1:NM_001031713:exon1:c.A322G:p.S108G
6 16145325 2 MYLIP A G exonic nonsynonymous SNV MYLIP:NM_013262:exon6:c.A1025G:p.N342S RS9370867 LDL cholesterol:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Total cholesterol:HDL cholesterol:LDL cholesterol:Waist hip ratio:Salmonella-induced pyroptosis
6 16327615 2 ATXN1 A G exonic synonymous SNV ATXN1:NM_001128164:exon7:c.T927C:p.A309A,ATXN1:NM_000332:exon8:c.T927C:p.A309A
6 17633061 2 NUP153 C T exonic nonsynonymous SNV NUP153:NM_001278210:exon16:c.G2353A:p.A785T,NUP153:NM_005124:exon17:c.G2479A:p.A827T,NUP153:NM_001278209:exon18:c.G2572A:p.A858T RS2274136 Triglycerides:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with statins:Fasting serum LDL cholesterol (mg/dL) in children:Fasting serum Total cholesterol (mg/dL) in children:Gene expression of FAM8A1 (ENSG00000137414) in dendritic cells treated with Mycobacterium tuberculosis
6 18215303 2 KDM1B T C exonic synonymous SNV KDM1B:NM_153042:exon16:c.T1479C:p.D493D RS214585 Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence
6 25605091 2 CARMIL1 G A exonic nonsynonymous SNV CARMIL1:NM_001173977:exon34:c.G3604A:p.G1202S,CARMIL1:NM_017640:exon34:c.G3604A:p.G1202S RS1012899 Irritible bowel syndrome:Fasting blood glucose:Gene expression of BTN3A2 in peripheral blood monocytes:Gene expression of LRRC16 in blood:Age at death with kuru exposure:Adiponectin levels:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early onset hypertension)
6 26056549 2 HIST1H1C A G exonic synonymous SNV HIST1H1C:NM_005319:exon1:c.T108C:p.S36S RS10425 Uric acid:LDL cholesterol:Triglycerides change with statins:Cystatin C in serum:Autism:Height:Urinary albumin-to-creatinine ratio:Serum urate:Gene expression of HIST1H4C (probeID ILMN_2075334) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HIST1H4C (probeID ILMN_2075334) in temporal cortex in Alzheimer's disease cases and controls:Coronary artery disease (CAD):Serum urate:Gene expression of HIST1H2AC (ENSG00000180573) in dendritic cells:Mean corpuscular hemoglobin concentration (MCHC)
6 26056604 2 HIST1H1C G A exonic nonsynonymous SNV HIST1H1C:NM_005319:exon1:c.C53T:p.A18V RS2230653 Cystatin C in serum:Height:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head circumference
6 26285560 2 HIST1H4H A G exonic synonymous SNV HIST1H4H:NM_003543:exon1:c.T168C:p.R56R RS2393592 Type 1 diabetes, combined control dataset:Major depressive disorder:2 hour glucose:HDL cholesterol:Total cholesterol change with statins:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Cerebellum:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Temporal cortex:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Caudal pons:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Temporal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Frontal cortex:Gene expression of HIST1H4H in peripheral blood monocytes:Gene expression of SIPA1L2 in peripheral blood monocytes:Gene expression of HIST1H2BD in peripheral blood monocytes:Gene expression of HIST1H4E in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Height:Bipolar disorder:Gene expression of HIST1H2BF (probeID ILMN_1779373) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in Alzheimer's disease cases and controls
6 28219661 2 ZKSCAN4 G A exonic nonsynonymous SNV ZKSCAN4:NM_019110:exon1:c.C98T:p.S33F
6 28269663 2 PGBD1 A G exonic nonsynonymous SNV PGBD1:NM_001184743:exon7:c.A2032G:p.I678V,PGBD1:NM_032507:exon7:c.A2032G:p.I678V RS1997660 Spine bone mineral density (BMD):Schizophrenia:Rheumatoid arthritis:2 hour glucose:Lp-PLA2 activity:Rheumatoid arthritis:Suicide attempts in major depressive disorder:Suicide attempts in mood disorder patients:Gene expression of ZNF435 in blood:Gene expression of ZNF193 in blood:Gene expression of [probe 2120082 centered at chr6:28245177] in blood:Gene expression of AL022393.1 in blood:Gene expression of ZNF187 in blood:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZSCAN23 in normal prepouch ileum
6 28294550 2 ZSCAN31 T C exonic nonsynonymous SNV ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R,ZSCAN31:NM_001135215:exon8:c.A614G:p.K205R,ZSCAN31:NM_145909:exon8:c.A614G:p.K205R RS853684 LDL cholesterol:2 hour glucose:Lp-PLA2 activity:Rheumatoid arthritis:Methylation levels at chr6:28429280-28429330 [hg18 coord, probe cg21750589] in Caudal pons:Gene expression of ZNF323 in Cerebellum:Gene expression of ZNF323 in Temporal cortex:Gene expression of ZNF323 in Frontal cortex:Gene expression:Gene expression of ZNF165 [probe ILMN_8007] in untreated osteoblasts:Gene expression of ZSCAN16 in liver:Gene expression of ZNF187 in blood:Gene expression of ZNF193 in blood:Gene expression of [probe 2120082 centered at chr6:28245177] in blood:Gene expression of AL022393.1 in blood:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases:HIV-1 infection (natural long-term nonprogression):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZSCAN23 in normal prepouch ileum:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases:College completion:Obesity with early age of onset (age >2):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases
6 29693011 2 HLA-F C T exonic nonsynonymous SNV HLA-F:NM_001098479:exon4:c.C814T:p.P272S,HLA-F:NM_018950:exon4:c.C814T:p.P272S RS1736924 Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Height
6 29797406 2 HLA-G G A exonic synonymous SNV HLA-G:NM_002127:exon5:c.G831A:p.E277E
6 29797436 2 HLA-G T C exonic synonymous SNV HLA-G:NM_002127:exon5:c.T861C:p.H287H
6 29910604 1 HLA-A C A exonic synonymous SNV HLA-A:NM_001242758:exon2:c.C144A:p.A48A,HLA-A:NM_002116:exon2:c.C144A:p.A48A
6 29911086 2 HLA-A T C exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.T385C:p.S129P,HLA-A:NM_002116:exon3:c.T385C:p.S129P
6 29912147 1 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon4:c.C868T:p.L290L,HLA-A:NM_002116:exon4:c.C868T:p.L290L
6 29912368 1 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon5:c.C987T:p.A329A,HLA-A:NM_002116:exon5:c.C987T:p.A329A
6 30080231 2 TRIM31 G A exonic nonsynonymous SNV TRIM31:NM_007028:exon2:c.C352T:p.R118C RS3734838 Rheumatoid arthritis:LDL cholesterol:Abnormal Involuntary Movement Scale:Total cholesterol:Rheumatoid arthritis:Height:Gene expression of HLA-A in blood
6 30122154 2 TRIM10 T C exonic synonymous SNV TRIM10:NM_006778:exon7:c.A1038G:p.Q346Q,TRIM10:NM_052828:exon7:c.A1038G:p.Q346Q RS3094134 LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Height:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 30521137 2 GNL1 G A exonic synonymous SNV GNL1:NM_005275:exon6:c.C798T:p.D266D RS2074505 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP)
6 30530245 2 PRR3 T C exonic synonymous SNV PRR3:NM_001077497:exon3:c.T477C:p.H159H,PRR3:NM_025263:exon4:c.T540C:p.H180H RS2074504 HDL cholesterol:Tardive dyskinesia:Abnormal Involuntary Movement Scale:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure (DBP):Mean corpuscular hemoglobin concentration (MCHC)
6 30711805 2 IER3 C G exonic nonsynonymous SNV IER3:NM_003897:exon2:c.G379C:p.A127P RS3094124 LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:Parkinson's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30857072 2 DDR1 G C exonic synonymous SNV DDR1:NM_001202521:exon3:c.G282C:p.L94L,DDR1:NM_001202522:exon3:c.G282C:p.L94L,DDR1:NM_013994:exon3:c.G282C:p.L94L,DDR1:NM_001202523:exon4:c.G336C:p.L112L,DDR1:NM_001297652:exon4:c.G282C:p.L94L,DDR1:NM_001297653:exon4:c.G282C:p.L94L,DDR1:NM_001297654:exon4:c.G282C:p.L94L,DDR1:NM_013993:exon5:c.G282C:p.L94L,DDR1:NM_001954:exon6:c.G282C:p.L94L RS2229933 HIV-1 control (viral load at set point):Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Advanced age-related macular degeneration
6 30858857 2 DDR1 C T exonic synonymous SNV DDR1:NM_001202521:exon4:c.C525T:p.S175S,DDR1:NM_001202522:exon4:c.C525T:p.S175S,DDR1:NM_013994:exon4:c.C525T:p.S175S,DDR1:NM_001202523:exon5:c.C579T:p.S193S,DDR1:NM_001297652:exon5:c.C525T:p.S175S,DDR1:NM_001297653:exon5:c.C525T:p.S175S,DDR1:NM_001297654:exon5:c.C525T:p.S175S,DDR1:NM_013993:exon6:c.C525T:p.S175S,DDR1:NM_001954:exon7:c.C525T:p.S175S RS1049622 Rheumatoid arthritis:HIV-1 control:Advanced age-related macular degeneration
6 30864829 2 DDR1 T C exonic synonymous SNV DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_001297652:exon13:c.T1797C:p.V599V,DDR1:NM_001297653:exon13:c.T1797C:p.V599V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001297654:exon14:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V RS1049623 Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Tardive dyskinesia:HIV-1 control (viral load at set point):Rheumatoid arthritis:Idiopathic membranous nephropathy:Gene expression of FLOT1///IER3 in blood:Gene expression of VARSL in blood:Gene expression of AL662797.7 in blood:Gene expression of FLOT1 in blood:Bipolar disorder:Age at death with kuru exposure:Advanced age-related macular degeneration:Aortic valve calcium:Gene expression of VARS2 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30877760 2 GTF2H4 A C exonic synonymous SNV GTF2H4:NM_001517:exon4:c.A294C:p.T98T
6 30887972 2 VARS2 C T exonic synonymous SNV VARS2:NM_001167733:exon12:c.C852T:p.S284S,VARS2:NM_001167734:exon13:c.C1362T:p.S454S,VARS2:NM_020442:exon13:c.C1272T:p.S424S RS2285319 Rheumatoid arthritis:HIV-1 control:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30888161 2 VARS2 T C exonic nonsynonymous SNV VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R RS2249464 Total cholesterol:LDL cholesterol:Rheumatoid arthritis:HDL cholesterol:LDL cholesterol:Triglycerides:Total cholesterol:Height:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Gene expression of VARS2 in normal prepouch ileum:Coronary artery disease (CAD)
6 30889389 2 VARS2 T C exonic synonymous SNV VARS2:NM_001167733:exon17:c.T1236C:p.V412V,VARS2:NM_001167734:exon18:c.T1746C:p.V582V,VARS2:NM_020442:exon18:c.T1656C:p.V552V RS2074511 HIV-1 control (viral load at set point):Rheumatoid arthritis:HIV-1 control:Gene expression of GTF2H4 in normal prepouch ileum
6 30893127 2 VARS2 G A exonic nonsynonymous SNV VARS2:NM_001167733:exon26:c.G2330A:p.R777Q,VARS2:NM_001167734:exon27:c.G2840A:p.R947Q,VARS2:NM_020442:exon27:c.G2750A:p.R917Q RS9394021 Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30893728 2 VARS2 C T exonic synonymous SNV VARS2:NM_001167733:exon28:c.C2613T:p.D871D,VARS2:NM_001167734:exon29:c.C3123T:p.D1041D,VARS2:NM_020442:exon29:c.C3033T:p.D1011D RS1043483 Gene expression of VARS2 [probe 226200_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31111180 2 CCHCR1 T C exonic synonymous SNV CCHCR1:NM_001105563:exon16:c.A2070G:p.L690L,CCHCR1:NM_001105564:exon16:c.A2178G:p.L726L,CCHCR1:NM_019052:exon16:c.A1911G:p.L637L RS130073 Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL cholesterol change with statins:Serum creatinine:Rheumatoid arthritis:Total cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31113030 2 CCHCR1 A G exonic synonymous SNV CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L
6 31113052 2 CCHCR1 G A exonic synonymous SNV CCHCR1:NM_001105563:exon13:c.C1659T:p.D553D,CCHCR1:NM_001105564:exon13:c.C1767T:p.D589D,CCHCR1:NM_019052:exon13:c.C1500T:p.D500D RS3094225 Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:Monocyte count:Rheumatoid arthritis:Gene expression of HLA-C in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:Gene expression of HLA-DQB1 in peripheral blood monocytes:Gene expression of HCG27 in peripheral blood monocytes:Total cholesterol:Triglycerides:LDL cholesterol:Height:Propylene glycol concentration:Nevirapine-induced rash in HIV-1 patients:Advanced age-related macular degeneration:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in non-Alzheimer's disease samples:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's disease cases and controls
6 31118511 2 CCHCR1 T G exonic nonsynonymous SNV CCHCR1:NM_001105563:exon6:c.A984C:p.E328D,CCHCR1:NM_001105564:exon6:c.A1092C:p.E364D,CCHCR1:NM_019052:exon6:c.A825C:p.E275D RS130067 Rheumatoid arthritis:Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 37424_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 37425_g_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 42361_g_at] in lymphoblastoid cell lines:Hip bone mineral density (BMD):Triglycerides:Differential exon level expression of HLA-C [probe 2948915] in brain cortex:Rheumatoid arthritis:Alzheimer's disease:Rheumatoid arthritis:Total cholesterol:Triglycerides:Body mass index (BMI):Prostate cancer:Prostate cancer (age at diagnosis):Prostate cancer (family history):Gene expression of HCG27 in blood:Gene expression of HLA-B in blood:Gene expression of [probe 7150630 centered at chr6:31344573] in blood:PROP taste detection threshold:Resistance to kuru in aged women despite likely exposure:Parkinson's disease:Gene expression of PSORS1C3 in normal prepouch ileum
6 31118565 2 CCHCR1 C G exonic synonymous SNV CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V RS130078 Total cholesterol:Triglycerides:Height:Body mass index (BMI):Grave's disease:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31122315 2 CCHCR1 G C exonic nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C651G:p.S217R,CCHCR1:NM_001105564:exon4:c.C759G:p.S253R,CCHCR1:NM_019052:exon4:c.C492G:p.S164R RS130066 Total cholesterol:Serum creatinine:Chronic kidney disease:PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31124849 2 CCHCR1 C T exonic stopgain CCHCR1:NM_001105563:exon2:c.G234A:p.W78X,CCHCR1:NM_001105564:exon2:c.G234A:p.W78X RS3130453 Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 37425_g_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 37424_at] in lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 42361_g_at] in lymphoblastoid cell lines:Gene expression of LOC285835 in lymphoblastoid cell lines:Gene expression of CCHCR1 in lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Differential exon level expression of HLA-C [probe 2948893] in brain cortex:Gene expression of HCG27 [probe 2902207] in peripheral blood mononuclear cells:HIV-1 control (viral load at set point):Total cholesterol:Serum creatinine:Chronic kidney disease:Triglycerides:HIV-1 control:Idiopathic membranous nephropathy:Gene expression of HCG27 in blood:Gene expression of VARSL in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Resistance to kuru in aged women despite likely exposure:Gene expression of PSORS1C1 in normal prepouch ileum:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in non-Alzheimer's disease samples:Advanced age-related macular degeneration (geographic atrophy):Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in Progressive Supranuclear Palsy cases:Parkinson's disease:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's disease cases
6 31129616 2 TCF19 A G exonic nonsynonymous SNV TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V,TCF19:NM_001318908:exon4:c.A631G:p.M211V RS2073721 Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:Total cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Gene expression of CCHCR1 in normal prepouch ileum:Parkinson's disease
6 31129642 2 TCF19 A C exonic synonymous SNV TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P,TCF19:NM_001318908:exon4:c.A657C:p.P219P RS2073722 Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL cholesterol:Serum creatinine:Rheumatoid arthritis:Triglycerides:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Propylene glycol concentration:Aortic valve calcium:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
6 31237802 2 HLA-C A G exonic nonsynonymous SNV HLA-C:NM_001243042:exon5:c.T956C:p.V319A,HLA-C:NM_002117:exon5:c.T956C:p.V319A RS1050147 Sarcoidosis
6 31237833 2 HLA-C T C exonic nonsynonymous SNV HLA-C:NM_001243042:exon5:c.A925G:p.M309V,HLA-C:NM_002117:exon5:c.A925G:p.M309V
6 31238135 2 HLA-C G A exonic synonymous SNV HLA-C:NM_001243042:exon4:c.C747T:p.T249T,HLA-C:NM_002117:exon4:c.C747T:p.T249T RS1050317 Sarcoidosis
6 31239430 2 HLA-C C T exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G289A:p.A97T,HLA-C:NM_002117:exon2:c.G289A:p.A97T RS41543814 Sarcoidosis
6 31323254 1 HLA-B G C exonic synonymous SNV HLA-B:NM_005514:exon4:c.C735G:p.G245G
6 31323262 1 HLA-B G A exonic nonsynonymous SNV HLA-B:NM_005514:exon4:c.C727T:p.R243W
6 31382911 2 MICA A G exonic nonsynonymous SNV MICA:NM_000247:exon7:c.A1147G:p.T383A RS1882 Total cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Height
6 31473546 2 MICB A G exonic nonsynonymous SNV MICB:NM_001289160:exon2:c.A127G:p.N43D,MICB:NM_001289161:exon2:c.A223G:p.N75D,MICB:NM_005931:exon2:c.A223G:p.N75D
6 31477681 2 MICB A G exonic nonsynonymous SNV MICB:NM_001289160:exon6:c.A1051G:p.T351A,MICB:NM_001289161:exon6:c.A1018G:p.T340A,MICB:NM_005931:exon6:c.A1147G:p.T383A
6 31506624 2 DDX39B T C exonic synonymous SNV DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V RS1129640 Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Gene expression of AIF1 (ENSG00000204472) in dendritic cells:Advanced age-related macular degeneration:Cervical cancer:Advanced age-related macular degeneration (geographic atrophy)
6 31525912 2 NFKBIL1 C T exonic nonsynonymous SNV NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C RS3130062 Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Infant head circumference:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31594628 2 PRRC2A T A exonic synonymous SNV PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G RS3130071 LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration:Gene expression of HLA-DRB5 in normal prepouch ileum
6 31595882 2 PRRC2A C A exonic nonsynonymous SNV PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K RS1046080 Gene expression of HLA-DQA1 [probe 203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Gene expression of HCG27 in peripheral blood monocytes:Gene expression of MICA in peripheral blood monocytes:Gene expression of HSPA1L in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-F in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:LDL cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Infant head circumference:Lupus anticoagulant:Advanced age-related macular degeneration
6 31597462 1 PRRC2A G C exonic synonymous SNV PRRC2A:NM_004638:exon14:c.G2094C:p.P698P,PRRC2A:NM_080686:exon14:c.G2094C:p.P698P
6 31601344 2 PRRC2A T C exonic nonsynonymous SNV PRRC2A:NM_004638:exon17:c.T4508C:p.L1503P,PRRC2A:NM_080686:exon17:c.T4508C:p.L1503P RS2272593 Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:LDL cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
6 31604044 2 PRRC2A T G exonic nonsynonymous SNV PRRC2A:NM_004638:exon26:c.T5683G:p.L1895V,PRRC2A:NM_080686:exon26:c.T5683G:p.L1895V RS3132453 Type 1 diabetes:Rheumatoid arthritis:Height:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Spine bone mineral density (BMD) (females):Hip bone mineral density (BMD) (females):Irritible bowel syndrome:LDL cholesterol:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Low trauma fracture:Schizophrenia:Rheumatoid arthritis:Bicuspid aortic valve:Total cholesterol:HDL cholesterol:Rheumatoid arthritis:Multiple sclerosis:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Parkinson's disease (PD):Gene expression of [probe 1440603 centered at chr6:31556036] in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of LST1 in blood:Gene expression of MICB in blood:Comorbid depressive syndrome and alcohol dependence:Parkinson's disease:Infant head circumference
6 31627523 2 C6orf47 C T exonic nonsynonymous SNV C6orf47:NM_021184:exon1:c.G202A:p.G68R RS3130617 Type 1 diabetes:Rheumatoid arthritis:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Irritible bowel syndrome:Longstanding arthritis:Arthritis including non-Rheumatoid:Rheumatoid arthritis:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Primary biliary cirrhosis (antimitochondrial-antibody positive only):Primary biliary cirrhosis:Triglycerides:Total cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Rheumatoid arthritis (ACPA-positive):Gene expression of BAT2 in blood:Gene expression of [probe 6280471 centered at chr6:31885634] in blood:Gene expression of BAT3 in blood:Gene expression of TNF in blood:Gene expression of LST1///NCR3 in blood:Gene expression of DDAH2 in blood:Gene expression of LST1 in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of [probe 580452 centered at chr6:31558910] in blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of [probe 1440603 centered at chr6:31556036] in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Infant head circumference:Follicular lymphoma (cancer):Paternal transmission distortion
6 31657413 2 ABHD16A T C exonic synonymous SNV ABHD16A:NM_001177515:exon10:c.A927G:p.L309L,ABHD16A:NM_021160:exon12:c.A1026G:p.L342L RS1475865 Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Triglycerides:Height:Urinary albumin-to-creatinine ratio
6 31785228 2 HSPA1A G C exonic synonymous SNV HSPA1A:NM_005345:exon1:c.G1695C:p.A565A
6 31914935 2 CFB A G exonic synonymous SNV CFB:NM_001710:exon3:c.A450G:p.R150R RS1048709 Total cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Type 2 diabetes:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HLA-DQB1 in normal prepouch ileum:Gene expression of HLA-DRB5 in normal prepouch ileum:Parkinson's disease:Aortic valve calcium:Infant head circumference:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:College completion:Adiponectin levels:Coronary artery disease (CAD)
6 31929014 2 SKIV2L A C exonic nonsynonymous SNV SKIV2L:NM_006929:exon8:c.A640C:p.M214L RS437179 Bipolar disorder:Rheumatoid arthritis:Gene expression of HLA-DRB4 [probe 209728_at] in lymphoblastoid cell lines:Height:Triglycerides:LDL cholesterol:Differential exon level expression of SKIV2L [probe 2902895] in peripheral blood mononuclear cells:Differential exon level expression of SKIV2L [probe 2902895] in brain cortex:Rheumatoid arthritis:Alcohol dependence:Alcohol dependence (early age of onset):Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Alopecia areata:Multiple sclerosis:Triglycerides:LDL cholesterol:Total cholesterol:Nonalcoholic fatty liver disease (Aspartate aminotransferase (AST)):Height:Waist hip ratio:Body mass index (BMI):Idiopathic membranous nephropathy:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of RNF5///AGER in blood:Gene expression of DDAH2 in blood:Gene expression of LSM2 in blood:Gene expression of SKIV2L///DOM3Z in blood:Gene expression of TMEM154 in blood:Gene expression of XRCC6 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Sarcoidosis:Tetrology of fallot:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Progressive Supranuclear Palsy cases:Advanced age-related macular degeneration:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:Coronary artery disease (CAD):Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in non-Alzheimer's disease samples:Parkinson's disease:Infant head circumference
6 31936668 2 SKIV2L T C exonic synonymous SNV SKIV2L:NM_006929:exon26:c.T3201C:p.Y1067Y RS410851 Gene expression of HLA-DRB4 [probe 209728_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 215666_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211656_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA2 [probe 212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 in lymphoblastoid cell lines:Gene expression of HLA-DQA1 in lymphoblastoid cell lines:Gene expression of HLA-DQA2 in lymphoblastoid cell lines:Triglycerides:HOMA-IR:Fasting insulin:Alcohol dependence (early age of onset):Alcohol dependence:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:LDL cholesterol:Triglycerides:Total cholesterol:Height:Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C4A (probeID ILMN_2179533) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in non-Alzheimer's disease samples:Parkinson's disease:Infant head circumference:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Gene expression of MICA in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Sarcoidosis
6 32122386 2 PPT2 C G exonic nonsynonymous SNV PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W
6 32151994 2 AGER A T exonic synonymous SNV AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A RS1800684 Gene expression of HLA-DQA1 [probe 213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133661 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133811 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC730415 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of RNASE2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of ZNF749 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133661 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133811 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC730415 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of RNASE2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of ZNF749 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211654_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB6 [probe 217362_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 236203_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[211654_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB6 probe[217362_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[236203_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[238900_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 probe[238900_at] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:Height:Body mass index (BMI):Alzheimer's disease:Plasma docosapentaenoic acid levels:Coronary artery disease (CAD):Advanced age-related macular degeneration:Gene expression of HLA-DRB5 in normal prepouch ileum:Gene expression of HLA-DQB1 in normal prepouch ileum:Parkinson's disease:College completion
6 32904981 2 HLA-DMB G A exonic nonsynonymous SNV HLA-DMB:NM_002118:exon3:c.C590T:p.T197I RS1042337 Irritible bowel syndrome:Rheumatoid arthritis:Rheumatoid arthritis:Gene expression of TAP2 in blood:Gene expression of HLA-DOA in blood:Gene expression of BRD2 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of HLA-DMB in blood:Gene expression of PSMB9 in blood
6 32917544 2 HLA-DMA C T exonic nonsynonymous SNV HLA-DMA:NM_006120:exon3:c.G496A:p.V166I RS1063478 Triglycerides:HIV-1 control (viral load at set point):Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of HLA-DOB in peripheral blood monocytes:Microalbuminuria
6 32948462 2 BRD2 G A exonic synonymous SNV BRD2:NM_001199456:exon12:c.G2232A:p.S744S,BRD2:NM_001113182:exon13:c.G2373A:p.S791S,BRD2:NM_001199455:exon13:c.G2478A:p.S826S,BRD2:NM_005104:exon13:c.G2373A:p.S791S,BRD2:NM_001291986:exon14:c.G2013A:p.S671S
6 33163451 2 RXRB G A exonic synonymous SNV RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F RS6531 Type 1 diabetes, gender differentiated:Gene expression of HLA-DPB2 [probe 239975_at] in lymphoblastoid cell lines:LDL cholesterol:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene expression of HSD17B8 in peripheral blood monocytes:Gene expression of HLA-DPA1 in peripheral blood monocytes:Gene expression of DAXX in blood:Gene expression of HSD17B8 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of PHF1///CUTA in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in non-Alzheimer's disease samples:Gene expression of RXRB in normal prepouch ileum:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Progressive Supranuclear Palsy cases
6 33235755 2 VPS52 G A exonic synonymous SNV VPS52:NM_001289174:exon8:c.C619T:p.L207L,VPS52:NM_001289175:exon9:c.C445T:p.L149L,VPS52:NM_001289176:exon9:c.C445T:p.L149L,VPS52:NM_022553:exon9:c.C820T:p.L274L RS213199 Rheumatoid arthritis:Eye color:Differential splicing of TAPBP [probeset 2950643] in lymphoblastoid cell lines:Schizophrenia:Rheumatoid arthritis:2 hour glucose:HOMA-B:Fasting blood glucose:Rheumatoid arthritis:Gene expression of RPS18 in peripheral blood monocytes:Gene expression of TUT1 in peripheral blood monocytes:Gene expression of TAPBP in peripheral blood monocytes:Gene expression of HLA-DPB1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene expression of HSD17B8 in blood:Gene expression of B3GALT4///WDR46 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of TAPBP in blood:Resistance to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob disease:Crohn's disease:Coronary artery disease (CAD)
6 33382288 2 PHF1 G A exonic nonsynonymous SNV PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K RS3116713 Alzheimer's disease:Fasting insulin:HOMA-IR:Body mass index (BMI):Gene expression of TAPBP in blood:Gene expression of HSD17B8 in blood:Gene expression of ITPR3 in blood:Systolic blood pressure (SBP):Imprinting effects on cleft lip without cleft palate
6 33408542 2 SYNGAP1 G A exonic synonymous SNV SYNGAP1:NM_001130066:exon11:c.G1713A:p.S571S,SYNGAP1:NM_006772:exon11:c.G1713A:p.S571S RS411136 Type 1 diabetes, Rheumatoid arthritis, combined case analysis:Neuroticism:2 hour glucose:HOMA-B:Fasting blood glucose:Rheumatoid arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene expression of ITPR3 in peripheral blood monocytes
6 33422976 2 ZBTB9 T G exonic synonymous SNV ZBTB9:NM_152735:exon2:c.T99G:p.S33S RS3119025 Fasting insulin:HOMA-IR:Body mass index (BMI):Systolic blood pressure (SBP):Salmonella-induced pyroptosis:College completion
6 33659472 2 ITPR3 C G exonic nonsynonymous SNV ITPR3:NM_002224:exon53:c.C7306G:p.L2436V RS2229642 Fasting blood glucose:Rheumatoid arthritis:Height:Obesity (body mass index (BMI)):Body mass index (BMI):College completion:Years of education
6 34214322 2 SMIM29 C G exonic nonsynonymous SNV SMIM29:NM_001287397:exon4:c.G389C:p.G130A,SMIM29:NM_001287398:exon4:c.G389C:p.G130A,SMIM29:NM_001008703:exon5:c.G449C:p.G150A,SMIM29:NM_001008704:exon5:c.G449C:p.G150A,SMIM29:NM_001287396:exon5:c.G449C:p.G150A,SMIM29:NM_178508:exon5:c.G449C:p.G150A RS1150781 Triglycerides change with statins:Height:Height (adults):Height (adult females):Height (adult males):Height:Birth weight
6 35050506 2 ANKS1A G A exonic synonymous SNV ANKS1A:NM_015245:exon18:c.G2748A:p.P916P RS2177382 Height:Adiponectin levels:Years of education
6 35260503 2 ZNF76 C T exonic synonymous SNV ZNF76:NM_001292032:exon10:c.C1104T:p.H368H,ZNF76:NM_003427:exon10:c.C1104T:p.H368H RS1557567 Fasting insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels
6 35260530 2 ZNF76 C T exonic synonymous SNV ZNF76:NM_001292032:exon10:c.C1131T:p.S377S,ZNF76:NM_003427:exon10:c.C1131T:p.S377S RS1557568 Fasting insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels:Gene expression of ZNF76 in normal prepouch ileum
6 35285720 2 DEF6 A C exonic nonsynonymous SNV DEF6:NM_022047:exon6:c.A860C:p.N287T RS2395617 Height:Late onset Alzheimer's disease:Gene expression of DEF6 in blood:Gene expression of ZNF76 in blood:Gene expression of PPARD in blood:Gene expression of ZNF76 in normal prepouch ileum:Gene expression of PPARD (ENSG00000112033) in dendritic cells
6 37250112 2 TBC1D22B A G exonic synonymous SNV TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q RS195753 2 hour glucose:Total cholesterol:Rheumatoid arthritis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 37252210 2 TBC1D22B C T exonic synonymous SNV TBC1D22B:NM_017772:exon6:c.C771T:p.N257N RS3818136 Total cholesterol:Triglycerides change with statins:Rheumatoid arthritis:Transmission distortion
6 37349033 2 RNF8 G A exonic synonymous SNV RNF8:NM_003958:exon7:c.G1344A:p.T448T RS2284922 Fasting blood glucose:Triglycerides change with statins:Chronic kidney disease:Serum creatinine:Gene expression of RNF8 in CD4+ lymphocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight:Advanced age-related macular degeneration
6 39933339 2
6 41533579 2 FOXP4 C A exonic synonymous SNV FOXP4:NM_001012426:exon2:c.C81A:p.A27A,FOXP4:NM_001012427:exon2:c.C81A:p.A27A,FOXP4:NM_138457:exon2:c.C81A:p.A27A RS2104506 Cystatin C in serum:Rheumatoid arthritis:Adiponectin levels:Refractive error
6 42044945 2 TAF8 G A exonic synonymous SNV TAF8:NM_138572:exon8:c.G888A:p.R296R RS3800286 Systolic blood pressure (SBP):Gene expression change of GUCA1A (ENSG00000048545) in dendritic cells after treatment with Mycobacterium tuberculosis:Transmission distortion
6 42600319 2 UBR2 A G exonic synonymous SNV UBR2:NM_015255:exon12:c.A1311G:p.L437L RS5014584 Advanced age-related macular degeneration (geographic atrophy)
6 42713618 2 TBCC A G exonic nonsynonymous SNV TBCC:NM_003192:exon1:c.T194C:p.V65A RS2234026 Total cholesterol:Infant head circumference:Aortic valve calcium
6 43014298 2 CUL7 T C exonic synonymous SNV CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q
6 43014299 2 CUL7 T C exonic nonsynonymous SNV CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R
6 43152573 1 CUL9 A G exonic synonymous SNV CUL9:NM_015089:exon2:c.A525G:p.L175L
6 43154091 2 CUL9 C G exonic synonymous SNV CUL9:NM_015089:exon4:c.C1149G:p.L383L
6 43306346 2 ZNF318 A G exonic nonsynonymous SNV ZNF318:NM_014345:exon10:c.T5390C:p.V1797A RS1459675 Cystatin C in serum:Urinary albumin-to-creatinine ratio
6 43336771 2 ZNF318 C T exonic synonymous SNV ZNF318:NM_014345:exon1:c.G333A:p.R111R
6 43492578 2 XPO5 G A exonic synonymous SNV XPO5:NM_020750:exon30:c.C3303T:p.Y1101Y RS2257082 2 hour glucose:Triglycerides change with statins:HDL cholesterol:Asthma:Gene expression of MAD2L1BP in blood:Gene expression of ABCC10 (ENSG00000124574) in dendritic cells:Birth weight:Gene expression change of ABCC10 (ENSG00000124574) in dendritic cells after treatment with Mycobacterium tuberculosis
6 44268371 2 AARS2 T C exonic synonymous SNV AARS2:NM_020745:exon22:c.A2871G:p.S957S RS325008 Total cholesterol:Salmonella-induced pyroptosis:Aortic valve calcium:Refractive error
6 44275011 2 AARS2 T C exonic nonsynonymous SNV AARS2:NM_020745:exon6:c.A1015G:p.I339V RS324136 Total cholesterol:Aortic valve calcium
6 46623698 2 SLC25A27 T C exonic synonymous SNV SLC25A27:NM_001204051:exon2:c.T225C:p.A75A,SLC25A27:NM_001204052:exon2:c.T225C:p.A75A,SLC25A27:NM_004277:exon2:c.T225C:p.A75A RS3757241 Total cholesterol:HDL cholesterol:Partial epilepsy:Urinary albumin-to-creatinine ratio:Microalbuminuria:Lp-PLA2 activity:Bipolar disorder:Gene expression of CYP39A1 in normal prepouch ileum
6 46827073 2 ADGRF5 A G exonic nonsynonymous SNV ADGRF5:NM_001098518:exon17:c.T2567C:p.M856T,ADGRF5:NM_015234:exon17:c.T2567C:p.M856T
6 47563692 2 CD2AP C T exonic synonymous SNV CD2AP:NM_012120:exon12:c.C1204T:p.L402L
6 49518914 2 C6orf141 C G exonic nonsynonymous SNV C6orf141:NM_001145652:exon1:c.C409G:p.Q137E
6 52617731 2 GSTA2 C G exonic nonsynonymous SNV GSTA2:NM_000846:exon5:c.G335C:p.S112T RS2180314 Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:HDL cholesterol:Triglycerides
6 53989526 2 MLIP G A exonic nonsynonymous SNV MLIP:NM_001281746:exon3:c.G475A:p.V159I,MLIP:NM_001281747:exon3:c.G508A:p.V170I,MLIP:NM_138569:exon3:c.G475A:p.V159I RS4712056 HDL cholesterol:Tardive dyskinesia:HDL cholesterol:Body mass index (BMI):Refractive error:Aortic valve calcium:Gene expression of MLIP in normal prepouch ileum
6 56417282 2 DST C T exonic nonsynonymous SNV DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I RS4715630 Asthma:Waist hip ratio:Mitral annular calcium:Hypertension (early onset hypertension):Tetrology of fallot
6 56417545 2 DST T C exonic nonsynonymous SNV DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A RS4715631 Total cholesterol change with statins:Asthma:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral annular calcium
6 57393125 2 PRIM2 A G exonic unknown UNKNOWN RS927192 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
6 57398201 2 PRIM2 T C exonic unknown UNKNOWN RS62398997 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
6 57398226 2 PRIM2 T G exonic unknown UNKNOWN
6 57398264 2 PRIM2 A G exonic unknown UNKNOWN
6 57467100 2 PRIM2 G C exonic unknown UNKNOWN
6 57467175 2 PRIM2 A G exonic unknown UNKNOWN
6 57512510 2 PRIM2 T G exonic unknown UNKNOWN
6 57512565 2 PRIM2 T C exonic unknown UNKNOWN
6 57512678 2 PRIM2 G A exonic unknown UNKNOWN
6 71546702 2 SMAP1 C T exonic nonsynonymous SNV SMAP1:NM_001281439:exon6:c.C554T:p.A185V,SMAP1:NM_021940:exon6:c.C554T:p.A185V,SMAP1:NM_001044305:exon7:c.C635T:p.A212V,SMAP1:NM_001281440:exon7:c.C605T:p.A202V RS2273566 LDL cholesterol:Schizophrenia:Late onset Alzheimer's disease:Gene expression of SMAP1///B3GAT2 in blood:Gene expression of SMAP1 in blood:Aortic valve calcium
6 75797302 2 COL12A1 C T exonic nonsynonymous SNV COL12A1:NM_080645:exon50:c.G5680A:p.G1894S,COL12A1:NM_004370:exon65:c.G9172A:p.G3058S RS970547 Eye color:LDL cholesterol:Schizophrenia:Comorbid depressive syndrome and alcohol dependence:Tetrology of fallot:Diabetic retinopathy in Type 2 diabetes mellitus
6 75841722 2 COL12A1 A T exonic synonymous SNV COL12A1:NM_080645:exon20:c.T2379A:p.A793A,COL12A1:NM_004370:exon35:c.T5871A:p.A1957A RS594012 Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Infant head circumference
6 76564953 1 MYO6 A G exonic synonymous SNV MYO6:NM_001300899:exon12:c.A1176G:p.T392T,MYO6:NM_004999:exon12:c.A1176G:p.T392T
6 79679577 1 PHIP A G exonic synonymous SNV PHIP:NM_017934:exon27:c.T3180C:p.D1060D
6 79708000 2 PHIP A C exonic nonsynonymous SNV PHIP:NM_017934:exon18:c.T1988G:p.V663G RS7747479 Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob disease
6 80228541 2 LCA5 A G exonic nonsynonymous SNV LCA5:NM_001122769:exon2:c.T71C:p.L24S,LCA5:NM_181714:exon3:c.T71C:p.L24S RS2655655 Eye color:Arthritis including non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with statins:Serum creatinine
6 83880167 1 PGM3 C T exonic nonsynonymous SNV PGM3:NM_001199918:exon11:c.G1153A:p.D385N,PGM3:NM_001199919:exon12:c.G1396A:p.D466N,PGM3:NM_015599:exon12:c.G1396A:p.D466N,PGM3:NM_001199917:exon13:c.G1480A:p.D494N RS473267 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Schizophrenia:Premature ovarian failure:Gene expression of RWDD2A in peripheral blood monocytes:Gene expression of DOPEY1 in peripheral blood monocytes:Gene expression of RWDD2A in blood:Gene expression of PGM3///DOPEY1 in blood:Bipolar disorder:Advanced age-related macular degeneration:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
6 83881740 1 PGM3 T C exonic synonymous SNV PGM3:NM_001199918:exon10:c.A1038G:p.E346E,PGM3:NM_001199919:exon11:c.A1281G:p.E427E,PGM3:NM_015599:exon11:c.A1281G:p.E427E,PGM3:NM_001199917:exon12:c.A1365G:p.E455E RS542948 Bipolar disorder:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 84233831 2 PRSS35 G A exonic nonsynonymous SNV PRSS35:NM_153362:exon2:c.G671A:p.R224Q,PRSS35:NM_001170423:exon3:c.G671A:p.R224Q RS504593 Irritible bowel syndrome:Schizophrenia:Triglycerides change with statins:Waist hip ratio
6 88224164 1 RARS2 T C exonic synonymous SNV RARS2:NM_001350509:exon18:c.A1179G:p.K393K,RARS2:NM_001318785:exon19:c.A1179G:p.K393K,RARS2:NM_001350505:exon20:c.A1704G:p.K568K,RARS2:NM_001350506:exon20:c.A1179G:p.K393K,RARS2:NM_001350510:exon20:c.A1179G:p.K393K,RARS2:NM_020320:exon20:c.A1704G:p.K568K,RARS2:NM_001350507:exon21:c.A1179G:p.K393K,RARS2:NM_001350508:exon21:c.A1179G:p.K393K,RARS2:NM_001350511:exon21:c.A1179G:p.K393K RS8802 HDL cholesterol
6 90039670 2 UBE2J1 G C exonic nonsynonymous SNV UBE2J1:NM_016021:exon8:c.C685G:p.L229V RS10502 HOMA-B:Fasting blood glucose:Lp-PLA2 activity:PROP taste detection threshold
6 90315789 2 ANKRD6 A G exonic nonsynonymous SNV ANKRD6:NM_001242809:exon5:c.A382G:p.I128V,ANKRD6:NM_001242811:exon5:c.A382G:p.I128V,ANKRD6:NM_001242813:exon5:c.A382G:p.I128V,ANKRD6:NM_014942:exon5:c.A382G:p.I128V RS3748085 Fat mass:Arthritis including non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:LDL cholesterol:Lp-PLA2 activity:Height:Waist hip ratio:Gene expression of RP11-11D8.2 in blood:Hypertension (early onset hypertension)
6 90340276 2 ANKRD6 G A exonic synonymous SNV ANKRD6:NM_001242814:exon13:c.G1545A:p.S515S,ANKRD6:NM_001242813:exon15:c.G1632A:p.S544S,ANKRD6:NM_001242809:exon16:c.G1737A:p.S579S,ANKRD6:NM_001242811:exon16:c.G1737A:p.S579S,ANKRD6:NM_014942:exon16:c.G1722A:p.S574S RS3210511 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol:Age at death with kuru exposure
6 90371202 2 MDN1 G A exonic synonymous SNV MDN1:NM_014611:exon88:c.C14661T:p.L4887L RS9444701 Hip bone mineral density (BMD):Schizophrenia:Chronic kidney disease:Rheumatoid arthritis:Body mass index (BMI):Sporadic Creutzfeldt-Jakob disease:Variant Creutzfeldt-Jakob disease:College completion
6 90402482 2 MDN1 G A exonic nonsynonymous SNV MDN1:NM_014611:exon63:c.C10267T:p.H3423Y RS9294445 Hip bone mineral density (BMD):Differential exon level expression of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Hepatitis C virus (HCV)-induced liver fibrosis
6 90402840 2 MDN1 C G exonic synonymous SNV MDN1:NM_014611:exon63:c.G9909C:p.L3303L RS9351212 Chronic kidney disease:Rheumatoid arthritis
6 90418262 2 MDN1 C T exonic synonymous SNV MDN1:NM_014611:exon51:c.G7851A:p.T2617T RS2026634 Chronic kidney disease:Rheumatoid arthritis
6 90448092 2 MDN1 C T exonic nonsynonymous SNV MDN1:NM_014611:exon33:c.G4676A:p.S1559N RS4140446 Schizophrenia:Differential exon level expression of MDN1 [probe 2964449] in peripheral blood mononuclear cells:Differential exon level expression of MDN1 [probe 2964482] in brain cortex:Chronic kidney disease:Rheumatoid arthritis:Gene expression of MDN1 (ENSG00000112159) in dendritic cells treated with Mycobacterium tuberculosis
6 90455084 2 MDN1 A G exonic synonymous SNV MDN1:NM_014611:exon29:c.T4086C:p.H1362H RS9359861 Chronic kidney disease:Rheumatoid arthritis
6 90459454 2 MDN1 G A exonic synonymous SNV MDN1:NM_014611:exon25:c.C3423T:p.A1141A
6 97339078 2 NDUFAF4 A G exonic synonymous SNV NDUFAF4:NM_014165:exon3:c.T430C:p.L144L RS6684 Gene expression of GPR63 in CHB-JPT lymphoblastoid cell lines:Gene expression of GPR63 [probe 220993_s_at] in lymphoblastoid cell lines:Gene expression of probe 227559_at in lymphoblastoid cell lines:Fasting blood glucose:Severe diabetic retinopathy:Gene expression of NDUFAF4 in normal prepouch ileum
6 97339088 2 NDUFAF4 C T exonic synonymous SNV NDUFAF4:NM_014165:exon3:c.G420A:p.Q140Q RS11402 Gene expression of NDUFAF4 [transcript NM_014165, probe A_24_P171983] in liver:PROP taste detection threshold:Gene expression of NDUFAF4 in normal prepouch ileum
6 97613163 2 MMS22L T C exonic synonymous SNV MMS22L:NM_001350600:exon20:c.A2331G:p.P777P,MMS22L:NM_001350599:exon21:c.A3180G:p.P1060P,MMS22L:NM_198468:exon21:c.A3180G:p.P1060P RS1209290 Body mass index (BMI)
6 97626374 2 MMS22L A G exonic nonsynonymous SNV MMS22L:NM_001350600:exon17:c.T1775C:p.V592A,MMS22L:NM_001350599:exon18:c.T2624C:p.V875A,MMS22L:NM_198468:exon18:c.T2624C:p.V875A RS1737145 Abnormal Involuntary Movement Scale:Cardiac neonatal lupus:Body mass index (BMI):Gene expression of C6orf167 [probe ILMN_10450] in osteoblasts treated with dexamethasone
6 97677118 2 MMS22L G A exonic nonsynonymous SNV MMS22L:NM_001350600:exon13:c.C842T:p.T281M,MMS22L:NM_001350599:exon14:c.C1691T:p.T564M,MMS22L:NM_198468:exon14:c.C1691T:p.T564M RS9481410 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:Tardive dyskinesia:Rheumatoid arthritis
6 99817601 2 COQ3 A G exonic nonsynonymous SNV COQ3:NM_017421:exon7:c.T985C:p.Y329H
6 99883704 2 USP45 T C exonic nonsynonymous SNV USP45:NM_001346024:exon16:c.A2159G:p.N720S,USP45:NM_001346025:exon16:c.A2156G:p.N719S,USP45:NM_001346028:exon17:c.A1253G:p.N418S,USP45:NM_001080481:exon18:c.A2333G:p.N778S,USP45:NM_001346021:exon18:c.A2333G:p.N778S,USP45:NM_001346022:exon18:c.A2333G:p.N778S,USP45:NM_001346023:exon18:c.A2330G:p.N777S,USP45:NM_001346027:exon18:c.A1253G:p.N418S,USP45:NM_001346029:exon18:c.A1253G:p.N418S
6 101094554 2 ASCC3 A G exonic synonymous SNV ASCC3:NM_006828:exon22:c.T3570C:p.P1190P RS239239 Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure (DBP):Mitral annular calcium:Obesity with early age of onset (age >2)
6 109764535 1 SMPD2 G T exonic nonsynonymous SNV SMPD2:NM_003080:exon9:c.G795T:p.R265S RS1476387 Height:LDL cholesterol:Gene expression of SMPD2 [probe 2920906] in peripheral blood mononuclear cells:Rheumatoid arthritis:Alopecia areata:Total cholesterol:LDL cholesterol:Triglycerides:Asthma:Height:Body mass index (BMI):Height (adult females):Height (adult males):Height (adults):Gene expression of C6orf224 in blood:Gene expression of SMPD2///MICAL1 in blood:Gene expression of SMPD2 in normal prepouch ileum:Gene expression of PPIL6 (probeID ILMN_1657058) in cerebellum in Alzheimer's disease cases and controls
6 109768295 1 MICAL1 G A exonic synonymous SNV MICAL1:NM_001159291:exon16:c.C1950T:p.Y650Y,MICAL1:NM_001286613:exon17:c.C2265T:p.Y755Y,MICAL1:NM_022765:exon17:c.C2208T:p.Y736Y RS910730 LDL cholesterol:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Gene expression of PPIL6 (probeID ILMN_1657058) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PPIL6 (probeID ILMN_1657058) in cerebellum in Alzheimer's disease cases
6 111901453 2 TRAF3IP2 G T exonic nonsynonymous SNV TRAF3IP2:NM_001164281:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147686:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147200:exon4:c.C996A:p.H332Q RS1043730 Height:Urinary albumin-to-creatinine ratio
6 116575083 2 TSPYL4 C A exonic nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G89T:p.R30L RS2232470 Triglycerides:Lung function, forced expiratory volume in 1 second (FEV1):Total cholesterol:Serum creatinine:Lp-PLA2 activity:Triglycerides:Total cholesterol:LDL cholesterol:Adiponectin levels:Advanced age-related macular degeneration
6 119149149 2 MCM9 C G exonic nonsynonymous SNV MCM9:NM_017696:exon9:c.G1673C:p.C558S
6 121629167 2 TBC1D32 G A exonic synonymous SNV TBC1D32:NM_152730:exon5:c.C645T:p.C215C RS9398629 Rheumatoid arthritis
6 126278230 2 HINT3 G C exonic nonsynonymous SNV HINT3:NM_138571:exon1:c.G107C:p.G36A RS2295005 2 hour glucose:Height:Waist hip ratio
6 128388799 1 PTPRK G T exonic synonymous SNV PTPRK:NM_001291983:exon11:c.C1635A:p.L545L,PTPRK:NM_001135648:exon12:c.C2022A:p.L674L,PTPRK:NM_001291981:exon12:c.C2022A:p.L674L,PTPRK:NM_001291982:exon12:c.C2022A:p.L674L,PTPRK:NM_001291984:exon12:c.C2022A:p.L674L,PTPRK:NM_002844:exon12:c.C2022A:p.L674L
6 130031215 2 ARHGAP18 T C exonic nonsynonymous SNV ARHGAP18:NM_033515:exon1:c.A67G:p.T23A RS3752536 Stabilized warfarin dose:Arthritis including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease
6 130374102 2 L3MBTL3 C A exonic nonsynonymous SNV L3MBTL3:NM_001007102:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346550:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346551:exon6:c.C473A:p.T158N,L3MBTL3:NM_032438:exon7:c.C548A:p.T183N RS9388768 2 hour glucose:HOMA-B:Serum creatinine:Lp-PLA2 activity:Autism with low IQ:Autism:Triglycerides:HDL cholesterol:Height:Waist hip ratio:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Bipolar disorder:Myopia:Height tails (upper and lower 5th percentiles):Infant head circumference:Refractive error
6 132271952 2 CTGF G C exonic nonsynonymous SNV CTGF:NM_001901:exon2:c.C247G:p.H83D
6 132271959 2 CTGF T G exonic synonymous SNV CTGF:NM_001901:exon2:c.A240C:p.L80L
6 132271980 2 CTGF T G exonic synonymous SNV CTGF:NM_001901:exon2:c.A219C:p.P73P
6 135313034 2
6 137325847 2 IL20RA C T exonic nonsynonymous SNV IL20RA:NM_001278723:exon5:c.G442A:p.V148I,IL20RA:NM_001278724:exon5:c.G376A:p.V126I,IL20RA:NM_001278722:exon6:c.G628A:p.V210I,IL20RA:NM_014432:exon6:c.G775A:p.V259I RS1555498 HDL cholesterol
6 138753337 2 NHSL1 C T exonic synonymous SNV NHSL1:NM_020464:exon5:c.G2157A:p.K719K,NHSL1:NM_001144060:exon6:c.G2145A:p.K715K RS2039121 2 hour glucose
6 138754323 2 NHSL1 A G exonic synonymous SNV NHSL1:NM_020464:exon5:c.T1171C:p.L391L,NHSL1:NM_001144060:exon6:c.T1159C:p.L387L RS2327891 Coronary artery disease (CAD), combined control dataset, gender differentiated:LDL cholesterol:Schizophrenia:2 hour glucose:Cystatin C in serum:Gene expression of CTNND1 in peripheral blood monocytes:Gene expression of RP3-422G23.1 in blood:Birth weight:Tetrology of fallot
6 139085450 2 GVQW2 C T exonic synonymous SNV GVQW2:NM_001242740:exon2:c.G102A:p.P34P
6 142718801 2 ADGRG6 G A exonic synonymous SNV ADGRG6:NM_001032394:exon9:c.G1392A:p.L464L,ADGRG6:NM_001032395:exon9:c.G1392A:p.L464L,ADGRG6:NM_020455:exon10:c.G1476A:p.L492L,ADGRG6:NM_198569:exon10:c.G1476A:p.L492L RS989946 LDL cholesterol
6 142758631 2 ADGRG6 A G exonic nonsynonymous SNV ADGRG6:NM_001032394:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_001032395:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_020455:exon23:c.A3380G:p.Q1127R,ADGRG6:NM_198569:exon23:c.A3380G:p.Q1127R RS1262686 LDL cholesterol
6 143074700 2 HIVEP2 T C exonic synonymous SNV HIVEP2:NM_006734:exon10:c.A6885G:p.P2295P
6 143091263 2 HIVEP2 A G exonic nonsynonymous SNV HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P RS109836 Triglycerides change with statins:Cystatin C in serum:Mitral annular calcium
6 145051594 2 UTRN G A exonic synonymous SNV UTRN:NM_007124:exon53:c.G7911A:p.E2637E RS4305737 LDL cholesterol:HDL cholesterol
6 149953981 2 KATNA1 C T exonic synonymous SNV KATNA1:NM_001204076:exon3:c.G234A:p.L78L,KATNA1:NM_007044:exon3:c.G234A:p.L78L RS9800580 Gene expression of NUP43 [probe 238474_at] in lymphoblastoid cell lines:LDL cholesterol:Serum creatinine:Breast cancer
6 149983216 2 LATS1 G A exonic synonymous SNV LATS1:NM_001350392:exon7:c.C2202T:p.D734D,LATS1:NM_004690:exon8:c.C3042T:p.D1014D,LATS1:NM_001350340:exon9:c.C2727T:p.D909D,LATS1:NM_001350339:exon10:c.C2826T:p.D942D RS3924871 LDL cholesterol:Serum creatinine:Chronic kidney disease:Breast cancer:Gene expression of LRP11 in normal prepouch ileum:Gene expression of LATS1 in normal prepouch ileum:Gene expression of NUP43 in normal prepouch ileum
6 150004779 2 LATS1 A G exonic synonymous SNV LATS1:NM_001350392:exon3:c.T606C:p.S202S,LATS1:NM_001270519:exon4:c.T1446C:p.S482S,LATS1:NM_004690:exon4:c.T1446C:p.S482S,LATS1:NM_001350339:exon5:c.T1131C:p.S377S,LATS1:NM_001350340:exon5:c.T1131C:p.S377S RS3798761 Gene expression of NUP43 [probe 238474_at] in lymphoblastoid cell lines:Gene expression of NUP43 [probe 2979056] in peripheral blood mononuclear cells:Gene expression of C6orf72 [probe 2930753] in peripheral blood mononuclear cells:LDL cholesterol:Serum creatinine:Chronic kidney disease:Asthma:Gene expression of C6orf72 in blood:Gene expression of PCMT1 in blood:Gene expression of NUP43 in blood:Age at death with kuru exposure:Gene expression of NUP43 in normal prepouch ileum:Gene expression of LRP11 in normal prepouch ileum:Gene expression of LATS1 in normal prepouch ileum:Breast cancer
6 150114745 2 PCMT1 G A exonic nonsynonymous SNV PCMT1:NM_001252050:exon4:c.G427A:p.V143I,PCMT1:NM_001252051:exon4:c.G427A:p.V143I,PCMT1:NM_001252052:exon4:c.G427A:p.V143I,PCMT1:NM_001252049:exon5:c.G532A:p.V178I,PCMT1:NM_001252053:exon5:c.G532A:p.V178I,PCMT1:NM_005389:exon5:c.G532A:p.V178I RS4816 Gene expression of NUP43 [probe 2979056] in peripheral blood mononuclear cells:Asthma:Late onset Alzheimer's disease:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in Progressive Supranuclear Palsy cases:Breast cancer:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in non-Alzheimer's disease samples:Gene expression of RAET1E (probeID ILMN_2164007) in cerebellum in Alzheimer's disease cases
6 150184882 2 LRP11 G C exonic nonsynonymous SNV LRP11:NM_032832:exon1:c.C275G:p.P92R
6 151669875 2 AKAP12 A G exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E RS10872670 Irritible bowel syndrome:Multiple sclerosis severity scale:Triglycerides:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in blood:Birth weight:Infant head circumference
6 151670172 2 AKAP12 A C exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.A352C:p.K118Q,AKAP12:NM_005100:exon4:c.A646C:p.K216Q RS3734799 Amyotrophic lateral sclerosis (ALS):Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Triglycerides change with statins:Gene expression of RP11-108N8.2 in blood:Birth weight:Amyotrophic lateral sclerosis (ALS):Breast cancer:Years of education
6 151670897 2 AKAP12 T C exonic synonymous SNV AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A RS900654 Spine bone mineral density (BMD):Irritible bowel syndrome:Triglycerides:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in blood:Amyotrophic lateral sclerosis (ALS):Birth weight
6 151674326 2 AKAP12 A C exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D RS3823310 Rheumatoid arthritis:Schizophrenia:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Breast cancer:Endometriosis
6 151686905 2 ZBTB2 C T exonic synonymous SNV ZBTB2:NM_020861:exon3:c.G1296A:p.E432E
6 153296541 1 FBXO5 G C exonic nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E RS2073260 Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition):Major depressive disorder:2 hour glucose:Lp-PLA2 activity:LDL cholesterol:Total cholesterol:Waist hip ratio:Adiponectin levels:Aortic valve calcium
6 153323594 1 MTRF1L C T exonic nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301047:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301870:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301872:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q
6 153323709 1 MTRF1L T C exonic nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.A112G:p.T38A,MTRF1L:NM_001301047:exon1:c.A112G:p.T38A,MTRF1L:NM_001301870:exon1:c.A112G:p.T38A,MTRF1L:NM_001301872:exon1:c.A112G:p.T38A,MTRF1L:NM_019041:exon1:c.A112G:p.T38A
6 154771277 2 CNKSR3 A G exonic synonymous SNV CNKSR3:NM_173515:exon2:c.T168C:p.I56I RS9322467 2 hour glucose:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy)
6 155561760 2 TIAM2 T C exonic nonsynonymous SNV TIAM2:NM_001010927:exon2:c.T40C:p.S14P,TIAM2:NM_012454:exon15:c.T3265C:p.S1089P
6 155577823 2 TIAM2 C T exonic synonymous SNV TIAM2:NM_001010927:exon13:c.C1449T:p.A483A,TIAM2:NM_012454:exon26:c.C4674T:p.A1558A RS1571766 Gene expression of TFB1M [probe 219169_s_at] in lymphoblastoid cell lines:Gene expression of TFB1M [probe 228075_x_at] in lymphoblastoid cell lines:Gene expression of probe 240263_at in lymphoblastoid cell lines:Differential exon level expression of TIAM2 [probe 2932564] in brain cortex:Premature ovarian failure:Height:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of TFB1M in normal prepouch ileum:College completion:Primary rhegmatogenous retinal detachment:Infant head circumference
6 155606325 1 TFB1M C T exonic synonymous SNV TFB1M:NM_001350501:exon5:c.G633A:p.T211T,TFB1M:NM_001350502:exon5:c.G348A:p.T116T,TFB1M:NM_016020:exon5:c.G633A:p.T211T RS324356 Schizophrenia:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Infant head circumference:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene expression of CLDN20 (ENSG00000171217) in dendritic cells treated with Mycobacterium tuberculosis:Salmonella-induced pyroptosis:Gene expression of TFB1M in normal prepouch ileum
6 158735087 2 TULP4 C T exonic synonymous SNV TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S RS9364951 HDL cholesterol change with statins:Height
6 158735090 2 TULP4 T C exonic synonymous SNV TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D RS7756620 HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Height
6 158923434 2 TULP4 G C exonic synonymous SNV TULP4:NM_020245:exon13:c.G2739C:p.T913T
6 158924088 2 TULP4 T C exonic synonymous SNV TULP4:NM_020245:exon13:c.T3393C:p.D1131D
6 159184462 2 SYTL3 A G exonic synonymous SNV SYTL3:NM_001318745:exon14:c.A1026G:p.S342S,SYTL3:NM_001242395:exon15:c.A1440G:p.S480S,SYTL3:NM_001009991:exon16:c.A1440G:p.S480S,SYTL3:NM_001242394:exon17:c.A1644G:p.S548S,SYTL3:NM_001242384:exon18:c.A1644G:p.S548S RS2291387 Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 159420574 2 RSPH3 T C exonic synonymous SNV RSPH3:NM_001346418:exon1:c.A435G:p.S145S,RSPH3:NM_031924:exon1:c.A435G:p.S145S RS10945587 Triglycerides:Triglycerides change with statins:Chronic kidney disease:Total cholesterol:LDL cholesterol:Height:Gene expression change of TAGAP (ENSG00000164691) in dendritic cells after treatment with Mycobacterium tuberculosis
6 160464289 2 IGF2R G A exonic synonymous SNV IGF2R:NM_000876:exon12:c.G1590A:p.G530G RS894817 Overall Survival of Advanced Non-small Cell Lung Cancer Patients Treated with Carboplatin and Paclitaxel:Overall Survival of Advanced Non-small Cell Lung Cancer Patients Treated with Carboplatin and Paclitaxel (Tumor response)
6 160494409 2 IGF2R A G exonic nonsynonymous SNV IGF2R:NM_000876:exon34:c.A4855G:p.R1619G RS629849 Autism
6 160505199 2 IGF2R C G exonic synonymous SNV IGF2R:NM_000876:exon40:c.C6051G:p.L2017L RS614754 Serum creatinine:Height
6 161469774 2 MAP3K4 G A exonic nonsynonymous SNV MAP3K4:NM_001301072:exon3:c.G470A:p.R157H,MAP3K4:NM_005922:exon3:c.G470A:p.R157H,MAP3K4:NM_006724:exon3:c.G470A:p.R157H RS4559074 Fasting insulin:Rheumatoid arthritis:Triglycerides:Urinary albumin-to-creatinine ratio
6 168343838 2 AFDN T C exonic synonymous SNV AFDN:NM_001207008:exon22:c.T3060C:p.Y1020Y,AFDN:NM_001040000:exon23:c.T3108C:p.Y1036Y,AFDN:NM_001291964:exon23:c.T2985C:p.Y995Y RS1132306 Gene expression of MLLT4 [probe 2936857] in peripheral blood mononuclear cells:2 hour glucose:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of MLLT4 in blood:Bipolar disorder:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases:Hypertension (early onset hypertension):Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in non-Alzheimer's disease samples:Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases and controls
6 168349011 2 AFDN C T exonic synonymous SNV AFDN:NM_001207008:exon27:c.C3612T:p.I1204I,AFDN:NM_001040000:exon28:c.C3663T:p.I1221I,AFDN:NM_001291964:exon28:c.C3540T:p.I1180I RS9364371 Differential exon level expression of MLLT4 [probe 2936933] in peripheral blood mononuclear cells:Gene expression of MLLT4 [probe 2936857] in peripheral blood mononuclear cells:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases and controls
6 170070723 2 WDR27 A G exonic nonsynonymous SNV WDR27:NM_001350625:exon4:c.T398C:p.L133P,WDR27:NM_182552:exon4:c.T398C:p.L133P,WDR27:NM_001350624:exon5:c.T398C:p.L133P RS4236176 Type 1 diabetes, combined control dataset:Hip bone mineral density (BMD):Gene expression of PHF10 in blood:Gene expression of C6orf120 [probeset 221786_at] in sputum:Bipolar disorder:Years of education:Aortic valve calcium
6 170102267 2 C6orf120 A G exonic synonymous SNV C6orf120:NM_001317342:exon1:c.A9G:p.K3K
6 170862300 2 PSMB1 G C exonic nonsynonymous SNV PSMB1:NM_002793:exon1:c.C31G:p.P11A RS12717 Gene expression of PDCD2 [probe 228420_at] in lymphoblastoid cell lines:Years of education:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 170878793 2 TBP T C exonic synonymous SNV TBP:NM_001172085:exon5:c.T711C:p.N237N,TBP:NM_003194:exon6:c.T771C:p.N257N RS1042327 Gene expression of PDCD2 in Cerebellum:Gene expression of PDCD2 in Frontal cortex:Gene expression of PDCD2 in Temporal cortex:Gene expression of PDCD2 (probeID ILMN_1797684) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PDCD2 (probeID ILMN_1797684) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration
7 814788 2 DNAAF5 G A exonic nonsynonymous SNV DNAAF5:NM_017802:exon11:c.G2228A:p.R743K RS3922641 Gene expression of HEATR2 in normal prepouch ileum
7 1481919 2 MICALL2 C A exonic synonymous SNV MICALL2:NM_182924:exon7:c.G1620T:p.A540A
7 1482009 2 MICALL2 G C exonic synonymous SNV MICALL2:NM_182924:exon7:c.C1530G:p.L510L
7 1484572 2 MICALL2 A G exonic synonymous SNV MICALL2:NM_182924:exon6:c.T1134C:p.G378G
7 1976457 2 MAD1L1 C T exonic nonsynonymous SNV MAD1L1:NM_001304525:exon2:c.G41A:p.R14H,MAD1L1:NM_001304524:exon15:c.G1397A:p.R466H,MAD1L1:NM_001304523:exon16:c.G1673A:p.R558H,MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H RS1801368 Prostate cancer
7 2257612 2 MAD1L1 G A exonic synonymous SNV MAD1L1:NM_001304524:exon5:c.C387T:p.H129H,MAD1L1:NM_001304523:exon6:c.C663T:p.H221H,MAD1L1:NM_001013836:exon7:c.C663T:p.H221H,MAD1L1:NM_001013837:exon7:c.C663T:p.H221H,MAD1L1:NM_003550:exon7:c.C663T:p.H221H
7 2297006 2 SNX8 A G exonic synonymous SNV SNX8:NM_013321:exon9:c.T1128C:p.I376I
7 2303986 2 SNX8 T C exonic synonymous SNV SNX8:NM_013321:exon6:c.A729G:p.A243A RS2286206 HDL cholesterol
7 2394746 2 EIF3B T C exonic nonsynonymous SNV EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P
7 4780514 2 FOXK1 G T exonic synonymous SNV FOXK1:NM_001037165:exon2:c.G606T:p.T202T RS3087749 Height:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Obesity with early age of onset (age >2):Infant head circumference
7 4802029 2 FOXK1 T G exonic synonymous SNV FOXK1:NM_001037165:exon9:c.T2136G:p.G712G
7 5105133 2 RBAK C T exonic synonymous SNV RBAK:NM_021163:exon5:c.C2046T:p.N682N,RBAK:NM_001204456:exon6:c.C2046T:p.N682N
7 5254227 2 WIPI2 C G exonic synonymous SNV WIPI2:NM_001033520:exon1:c.C96G:p.V32V,WIPI2:NM_001033519:exon3:c.C219G:p.V73V,WIPI2:NM_016003:exon3:c.C219G:p.V73V,WIPI2:NM_001033518:exon4:c.C273G:p.V91V,WIPI2:NM_015610:exon4:c.C273G:p.V91V RS4587243 HOMA-B
7 5372406 2 TNRC18 G T exonic synonymous SNV TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R
7 5427720 2 TNRC18 A G exonic nonsynonymous SNV TNRC18:NM_001080495:exon5:c.T1735C:p.S579P
7 5434135 2 TNRC18 A G exonic synonymous SNV TNRC18:NM_001080495:exon3:c.T279C:p.S93S
7 5540769 2 FBXL18 A C exonic synonymous SNV FBXL18:NM_001321213:exon3:c.T1131G:p.T377T,FBXL18:NM_024963:exon3:c.T1131G:p.T377T
7 6036980 2 PMS2 G C exonic synonymous SNV PMS2:NM_001322008:exon5:c.C462G:p.S154S,PMS2:NM_001322004:exon6:c.C375G:p.S125S,PMS2:NM_001322007:exon6:c.C462G:p.S154S,PMS2:NM_001322010:exon6:c.C375G:p.S125S,PMS2:NM_001322013:exon6:c.C207G:p.S69S,PMS2:NM_000535:exon7:c.C780G:p.S260S,PMS2:NM_001322003:exon7:c.C375G:p.S125S,PMS2:NM_001322005:exon7:c.C375G:p.S125S,PMS2:NM_001322006:exon7:c.C780G:p.S260S,PMS2:NM_001322009:exon7:c.C375G:p.S125S,PMS2:NM_001322014:exon7:c.C780G:p.S260S,PMS2:NM_001322015:exon7:c.C471G:p.S157S RS6463524 Fasting blood glucose:Total cholesterol:Triglycerides:Years of education
7 7646651 2 MIOS G T exonic synonymous SNV MIOS:NM_019005:exon13:c.G2556T:p.S852S RS7806046 Years of education
7 7646687 2 MIOS A G exonic synonymous SNV MIOS:NM_019005:exon13:c.A2592G:p.T864T RS4222 Stabilized warfarin dose:Neuroticism:Childhood acute lymphoblastic leukemia:Total cholesterol:Chronic kidney disease:LDL cholesterol:Asthma:Waist hip ratio:Hypertension (early onset hypertension)
7 8125964 2 GLCCI1 C T exonic synonymous SNV GLCCI1:NM_138426:exon8:c.C1440T:p.S480S
7 12269417 2 TMEM106B C G exonic nonsynonymous SNV TMEM106B:NM_001134232:exon5:c.C554G:p.T185S,TMEM106B:NM_018374:exon6:c.C554G:p.T185S RS3173615 Gene expression of FLJ11273 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height
7 16823095 1 TSPAN13 G A exonic synonymous SNV TSPAN13:NM_014399:exon6:c.G594A:p.A198A RS11491 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 16834597 1 AGR2 A G exonic synonymous SNV AGR2:NM_006408:exon7:c.T441C:p.N147N RS6842 Infant head circumference:Gene expression of TSPAN13 in normal prepouch ileum
7 17379110 1 AHR G A exonic nonsynonymous SNV AHR:NM_001621:exon10:c.G1661A:p.R554K RS2066853 Arthritis including non-Rheumatoid:Rheumatoid arthritis:Longstanding arthritis:Fasting insulin:HDL cholesterol:Total cholesterol:Triglycerides:LDL cholesterol:Neuroblastoma (brain cancer):Longevity:Habitual caffeine consumption:Maternal transmission distortion:Transmission distortion
7 24758795 2 DFNA5 T C exonic synonymous SNV DFNA5:NM_001127453:exon4:c.A447G:p.E149E,DFNA5:NM_004403:exon4:c.A447G:p.E149E RS876305 Methylation levels at chr7:24763838-24763888 [hg18 coord, probe cg04770504] in Caudal pons
7 24854765 2 OSBPL3 G A exonic synonymous SNV OSBPL3:NM_145322:exon16:c.C1884T:p.S628S,OSBPL3:NM_145320:exon17:c.C1992T:p.S664S,OSBPL3:NM_145321:exon17:c.C1977T:p.S659S,OSBPL3:NM_015550:exon19:c.C2085T:p.S695S RS1044956 Gene expression of DFNA5 in peripheral blood monocytes:Years of education:College completion
7 26245998 1 CBX3 G A exonic nonsynonymous SNV CBX3:NM_007276:exon3:c.G35A:p.G12E,CBX3:NM_016587:exon3:c.G35A:p.G12E
7 27135314 2 HOXA1 C T exonic nonsynonymous SNV HOXA1:NM_005522:exon1:c.G218A:p.R73H,HOXA1:NM_153620:exon1:c.G218A:p.R73H RS10951154 HDL cholesterol:2 hour glucose:Adiponectin levels
7 27169093 2 HOXA4 T G exonic synonymous SNV HOXA4:NM_002141:exon2:c.A714C:p.R238R RS2158218 Mitral annular calcium
7 27196069 2 HOXA7 A C exonic synonymous SNV HOXA7:NM_006896:exon1:c.T96G:p.A32A RS2301720 Gene expression of probe 228642_at in lymphoblastoid cell lines:Gene expression of probe 1557051_s_at in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body mass index (BMI):Bipolar disorder:Years of education:Mitral annular calcium
7 27196113 2 HOXA7 C T exonic nonsynonymous SNV HOXA7:NM_006896:exon1:c.G52A:p.A18T RS2301721 Gene expression of probe 1557051_s_at in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body mass index (BMI):Gene expression of [probe 5340519 centered at chr7:27104823] in blood:College completion
7 29070320 1 CPVL C T exonic nonsynonymous SNV CPVL:NM_019029:exon12:c.G1193A:p.R398H,CPVL:NM_031311:exon12:c.G1193A:p.R398H,CPVL:NM_001348054:exon13:c.G1193A:p.R398H,CPVL:NM_001348052:exon14:c.G1193A:p.R398H RS1052200 Stabilized warfarin dose:Rheumatoid arthritis:Longstanding arthritis:Arthritis including non-Rheumatoid:HDL cholesterol:Simpson-Angus Scale:Fasting insulin:HOMA-IR:LDL cholesterol:Total cholesterol:CPVL gene expression:Gene expression of CPVL in blood:Gene expression of CPVL (probeID ILMN_2400759) in cerebellum in Progressive Supranuclear Palsy cases:Transmission distortion:Gene expression of CPVL (probeID ILMN_2400759) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CPVL (probeID ILMN_2400759) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CPVL (probeID ILMN_2400759) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CPVL (probeID ILMN_2400759) in cerebellum in non-Alzheimer's disease samples:Maternal transmission distortion:Advanced age-related macular degeneration (geographic atrophy):Gene expression of CPVL (probeID ILMN_2400759) in temporal cortex in Alzheimer's disease cases:Gene expression of CPVL (probeID ILMN_2400759) in cerebellum in Alzheimer's disease cases:Diabetic retinopathy in Type 2 diabetes mellitus
7 29519929 1 CHN2 A G exonic nonsynonymous SNV CHN2:NM_001039936:exon1:c.A203G:p.H68R,CHN2:NM_001293076:exon1:c.A203G:p.H68R,CHN2:NM_001293077:exon1:c.A203G:p.H68R,CHN2:NM_001293078:exon1:c.A203G:p.H68R,CHN2:NM_001293079:exon1:c.A203G:p.H68R,CHN2:NM_001293080:exon1:c.A203G:p.H68R,CHN2:NM_001293071:exon6:c.A506G:p.H169R,CHN2:NM_001293072:exon7:c.A566G:p.H189R,CHN2:NM_004067:exon7:c.A611G:p.H204R,CHN2:NM_001293069:exon8:c.A836G:p.H279R,CHN2:NM_001293070:exon8:c.A650G:p.H217R RS3750103 Triglycerides:Fasting blood glucose:Total cholesterol:Chronic kidney disease:Triglycerides:Neuroblastoma (brain cancer)
7 33060946 1 NT5C3A A G exonic synonymous SNV NT5C3A:NM_001002010:exon5:c.T393C:p.Y131Y,NT5C3A:NM_001002009:exon6:c.T276C:p.Y92Y,NT5C3A:NM_016489:exon6:c.T276C:p.Y92Y,NT5C3A:NM_001166118:exon7:c.T240C:p.Y80Y RS3750117 Chronic kidney disease:Serum creatinine:Cystatin C in serum:Gene expression of NT5C3 (probeID ILMN_2352121) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NT5C3 (probeID ILMN_2352121) in cerebellum in Alzheimer's disease cases and controls
7 36320821 2 EEPD1 G A exonic nonsynonymous SNV EEPD1:NM_030636:exon4:c.G1028A:p.S343N RS196586 Systolic blood pressure (SBP)
7 36338749 2 EEPD1 T C exonic synonymous SNV EEPD1:NM_030636:exon8:c.T1644C:p.D548D RS196613 HOMA-IR:Height
7 40314165 2 SUGCT G A exonic synonymous SNV SUGCT:NM_001193311:exon8:c.G651A:p.L217L,SUGCT:NM_001193313:exon8:c.G651A:p.L217L,SUGCT:NM_024728:exon8:c.G540A:p.L180L RS12669315 Parkinson's disease
7 40899967 2 SUGCT G C exonic synonymous SNV SUGCT:NM_001193312:exon13:c.G1083C:p.P361P,SUGCT:NM_001193313:exon14:c.G1227C:p.P409P,SUGCT:NM_001193311:exon15:c.G1305C:p.P435P,SUGCT:NM_024728:exon15:c.G1194C:p.P398P RS2010706 2 hour glucose:Waist hip ratio:Birth weight
7 43664280 2 STK17A A G exonic nonsynonymous SNV STK17A:NM_004760:exon7:c.A1084G:p.K362E RS1044141 Gene expression of C7orf44 [probe 209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in blood:Gene expression of [probe 6510438 centered at chr7:43637667] in blood:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
7 43846603 1 BLVRA A G exonic synonymous SNV BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G RS7738 Fasting blood glucose:Triglycerides change with statins:Chronic kidney disease:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
7 44606098 2 DDX56 C T exonic synonymous SNV DDX56:NM_001257189:exon12:c.G1395A:p.V465V,DDX56:NM_019082:exon13:c.G1515A:p.V505V RS6656 LDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Adiponectin levels
7 45148667 1 TBRG4 G A exonic nonsynonymous SNV TBRG4:NM_001261834:exon2:c.C203T:p.P68L,TBRG4:NM_004749:exon2:c.C170T:p.P57L,TBRG4:NM_030900:exon2:c.C170T:p.P57L,TBRG4:NM_199122:exon2:c.C170T:p.P57L RS2304693 HOMA-IR:HOMA-B:Fasting insulin:Partial epilepsy:Body mass index (BMI):Gene expression of MYO1G in blood:Gene expression of [probe 3130358 centered at chr7:44989296] in blood:Gene expression of CCM2 in blood:Gene expression of CCM2 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):College completion:Aortic valve calcium:Tetrology of fallot:Years of education
7 45148773 1 TBRG4 C A exonic nonsynonymous SNV TBRG4:NM_001261834:exon2:c.G97T:p.A33S,TBRG4:NM_004749:exon2:c.G64T:p.A22S,TBRG4:NM_030900:exon2:c.G64T:p.A22S,TBRG4:NM_199122:exon2:c.G64T:p.A22S RS2304694 B-cell chronic lymphocytic leukemia:HOMA-IR:HOMA-B:Partial epilepsy:Body mass index (BMI):Gene expression of [probe 3130358 centered at chr7:44989296] in blood:Gene expression of MYO1G in blood:Gene expression of CCM2 in blood:Advanced age-related macular degeneration (geographic atrophy):Years of education:Aortic valve calcium:Tetrology of fallot:College completion:Gene expression of CCM2 in normal prepouch ileum
7 48016353 1 HUS1 G T exonic nonsynonymous SNV HUS1:NM_004507:exon4:c.C439A:p.Q147K
7 55214348 1 EGFR C T exonic synonymous SNV EGFR:NM_001346898:exon4:c.C474T:p.N158N,EGFR:NM_001346900:exon4:c.C315T:p.N105N,EGFR:NM_005228:exon4:c.C474T:p.N158N,EGFR:NM_201282:exon4:c.C474T:p.N158N,EGFR:NM_201283:exon4:c.C474T:p.N158N,EGFR:NM_201284:exon4:c.C474T:p.N158N RS2072454 2 hour glucose:Severe diabetic retinopathy in type 1 diabetes (without nephropathy):Severe diabetic retinopathy in type 1 diabetes:Chemotherapeutic susceptibility in lymphoblastoid cell lines (cytarabine_AUC):Transmission distortion:College completion
7 55229255 1 EGFR G A exonic nonsynonymous SNV EGFR:NM_001346941:exon7:c.G761A:p.R254K,EGFR:NM_001346897:exon12:c.G1427A:p.R476K,EGFR:NM_001346899:exon12:c.G1427A:p.R476K,EGFR:NM_001346898:exon13:c.G1562A:p.R521K,EGFR:NM_001346900:exon13:c.G1403A:p.R468K,EGFR:NM_005228:exon13:c.G1562A:p.R521K,EGFR:NM_201282:exon13:c.G1562A:p.R521K,EGFR:NM_201284:exon13:c.G1562A:p.R521K RS2227983 Chronic kidney disease:Bipolar disorder
7 56079465 1 PSPH A G exonic nonsynonymous SNV PSPH:NM_004577:exon8:c.T668C:p.L223P
7 56088825 1 PSPH T A exonic nonsynonymous SNV PSPH:NM_004577:exon4:c.A81T:p.R27S
7 56126360 2 CCT6A T C exonic synonymous SNV CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V
7 56136260 2 SUMF2 C A exonic nonsynonymous SNV SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E
7 64291991 2 ZNF138 T A exonic nonsynonymous SNV ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y
7 64438667 2 ERV3-1-ZNF117;ZNF117 G A exonic stopgain ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X
7 64451699 2 ERV3-1 T C exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A1706G:p.N569S RS4717229 Gene expression of RABGEF1 in peripheral blood monocytes:Microalbuminuria:Gene expression of ERV3-1 in normal prepouch ileum:Salmonella-induced pyroptosis
7 64451963 2 ERV3-1 T C exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A1442G:p.N481S RS4618579 Adiponectin levels
7 64453136 2 ERV3-1 G A exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.C269T:p.T90I RS6460219 Adiponectin levels
7 64864607 2 ZNF92 G A exonic nonsynonymous SNV ZNF92:NM_001287534:exon2:c.G1352A:p.R451H,ZNF92:NM_001287532:exon3:c.G1484A:p.R495H,ZNF92:NM_007139:exon3:c.G1373A:p.R458H,ZNF92:NM_152626:exon4:c.G1580A:p.R527H,ZNF92:NM_001287533:exon5:c.G1352A:p.R451H
7 73814749 2 CLIP2 G C exonic nonsynonymous SNV CLIP2:NM_032421:exon14:c.G2825C:p.R942P,CLIP2:NM_003388:exon15:c.G2930C:p.R977P RS2522943 Cystatin C in serum:HDL cholesterol
7 75513062 2 RHBDD2 A G exonic synonymous SNV RHBDD2:NM_001346188:exon2:c.A225G:p.A75A,RHBDD2:NM_001346189:exon2:c.A189G:p.A63A,RHBDD2:NM_001040456:exon3:c.A633G:p.A211A,RHBDD2:NM_001346187:exon3:c.A210G:p.A70A,RHBDD2:NM_001040457:exon4:c.A210G:p.A70A,RHBDD2:NM_001346186:exon5:c.A210G:p.A70A RS42183 Triglycerides:Chronic kidney disease:Cystatin C in serum:Total cholesterol:LDL cholesterol
7 75609677 1 POR A G exonic synonymous SNV POR:NM_000941:exon5:c.A387G:p.P129P
7 75614953 1 POR T C exonic synonymous SNV POR:NM_000941:exon13:c.T1455C:p.A485A RS2228104 Total cholesterol:Triglycerides:LDL cholesterol:Birth weight
7 75621827 2 TMEM120A A G exonic unknown UNKNOWN
7 75630274 2 STYXL1;STYXL1 T C exonic;splicing synonymous SNV STYXL1:NM_001317787:exon6:c.A456G:p.Q152Q,STYXL1:NM_001317789:exon6:c.A330G:p.Q110Q,STYXL1:NM_001317785:exon8:c.A744G:p.Q248Q,STYXL1:NM_001317786:exon8:c.A744G:p.Q248Q,STYXL1:NM_016086:exon8:c.A744G:p.Q248Q RS8565 Rheumatoid arthritis:Triglycerides:Total cholesterol:LDL cholesterol:College completion:Gene expression of STYXL1 (probeID ILMN_2210729) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Gene expression of STYXL1 (probeID ILMN_2210729) in temporal cortex in Alzheimer's disease cases and controls
7 75659815 1 STYXL1 T C exonic synonymous SNV STYXL1:NM_001317785:exon2:c.A27G:p.P9P,STYXL1:NM_001317786:exon2:c.A27G:p.P9P,STYXL1:NM_001317787:exon2:c.A27G:p.P9P,STYXL1:NM_001317788:exon2:c.A27G:p.P9P,STYXL1:NM_016086:exon2:c.A27G:p.P9P RS1044483 Rheumatoid arthritis:LDL cholesterol:College completion:Parkinson's disease:Obesity with early age of onset (age >2):Gene expression of STYXL1 (probeID ILMN_2210729) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STYXL1 (probeID ILMN_2210729) in temporal cortex in Alzheimer's disease cases and controls
7 75677504 1 MDH2 C T exonic nonsynonymous SNV MDH2:NM_001282403:exon1:c.C26T:p.A9V,MDH2:NM_005918:exon1:c.C26T:p.A9V
7 76111836 1 DTX2 G A exonic nonsynonymous SNV DTX2:NM_001102596:exon2:c.G280A:p.A94T,DTX2:NM_001102595:exon3:c.G280A:p.A94T,DTX2:NM_001102594:exon4:c.G280A:p.A94T,DTX2:NM_020892:exon5:c.G280A:p.A94T
7 76131695 2 DTX2 A G exonic synonymous SNV DTX2:NM_001102596:exon5:c.A1170G:p.L390L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_020892:exon9:c.A1311G:p.L437L
7 77247821 2 PTPN12 G A exonic nonsynonymous SNV PTPN12:NM_001131009:exon11:c.G574A:p.V192I,PTPN12:NM_001131008:exon12:c.G607A:p.V203I,PTPN12:NM_002835:exon12:c.G964A:p.V322I RS9640663 Gene expression of probe 244356_at in lymphoblastoid cell lines:Stabilized warfarin dose:Multiple sclerosis, age of onset:Differential exon level expression of PTPN12 [probe 3009997] in brain cortex:Tardive dyskinesia:Serum creatinine:HDL cholesterol:Waist hip ratio:Body mass index (BMI):Gene expression of TMEM60 in blood:Adiponectin levels
7 77256713 2 PTPN12 A G exonic nonsynonymous SNV PTPN12:NM_001131009:exon12:c.A1327G:p.T443A,PTPN12:NM_001131008:exon13:c.A1360G:p.T454A,PTPN12:NM_002835:exon13:c.A1717G:p.T573A RS3750050 Simpson-Angus Scale:Triglycerides change with statins:Serum creatinine:Total cholesterol:LDL cholesterol:Gene expression of PTPN12 in blood:College completion:Gene expression of RSBN1L (ENSG00000187257) in dendritic cells treated with Mycobacterium tuberculosis
7 84628989 1 SEMA3D T G exonic nonsynonymous SNV SEMA3D:NM_152754:exon17:c.A2101C:p.K701Q RS7800072 HDL cholesterol:2 hour glucose
7 89861890 2 STEAP2 G T exonic nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I RS194525 Fasting blood glucose:HDL cholesterol change with statins:Partial epilepsy:Birth weight:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease samples:Years of education:Gene expression of STEAP2 in normal prepouch ileum:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases and controls
7 89912301 2 CFAP69 G A exonic nonsynonymous SNV CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M RS1029365 2 hour glucose:Fasting blood glucose:Partial epilepsy:Birth weight:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 in normal prepouch ileum:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases
7 89983808 2 GTPBP10 T G exonic nonsynonymous SNV GTPBP10:NM_033107:exon3:c.T264G:p.C88W RS42663 Fasting blood glucose:HDL cholesterol change with statins:Methylation levels at chr7:89678667-89678717 [hg18 coord, probe cg27626102] in Cerebellum:Triglycerides:Aortic valve calcium:Birth weight
7 91503228 1 MTERF1 C T exonic nonsynonymous SNV MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T RS10266424 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Height:Infant head circumference:Advanced age-related macular degeneration:College completion
7 91632306 2 AKAP9 C T exonic synonymous SNV AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T RS1989779 Cystatin C in serum:Height:Years of education
7 91714911 2 AKAP9 C T exonic nonsynonymous SNV AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S
7 91842554 1 KRIT1 T C exonic synonymous SNV KRIT1:NM_001013406:exon15:c.A1836G:p.V612V,KRIT1:NM_001350669:exon15:c.A1836G:p.V612V,KRIT1:NM_001350672:exon15:c.A1980G:p.V660V,KRIT1:NM_001350691:exon15:c.A1980G:p.V660V,KRIT1:NM_001350695:exon15:c.A1980G:p.V660V,KRIT1:NM_001350670:exon16:c.A1836G:p.V612V,KRIT1:NM_001350671:exon16:c.A1266G:p.V422V,KRIT1:NM_001350673:exon16:c.A1980G:p.V660V,KRIT1:NM_001350677:exon16:c.A1980G:p.V660V,KRIT1:NM_001350678:exon16:c.A1980G:p.V660V,KRIT1:NM_001350679:exon16:c.A1980G:p.V660V,KRIT1:NM_001350680:exon16:c.A1980G:p.V660V,KRIT1:NM_001350683:exon16:c.A1980G:p.V660V,KRIT1:NM_001350686:exon16:c.A1980G:p.V660V,KRIT1:NM_001350687:exon16:c.A1980G:p.V660V,KRIT1:NM_001350688:exon16:c.A1980G:p.V660V,KRIT1:NM_001350690:exon16:c.A1980G:p.V660V,KRIT1:NM_001350692:exon16:c.A1980G:p.V660V,KRIT1:NM_001350694:exon16:c.A1980G:p.V660V,KRIT1:NM_001350696:exon16:c.A1980G:p.V660V,KRIT1:NM_001350675:exon17:c.A1980G:p.V660V,KRIT1:NM_001350676:exon17:c.A1980G:p.V660V,KRIT1:NM_001350684:exon17:c.A1980G:p.V660V,KRIT1:NM_001350685:exon17:c.A1980G:p.V660V,KRIT1:NM_001350689:exon17:c.A1980G:p.V660V,KRIT1:NM_001350693:exon17:c.A1980G:p.V660V,KRIT1:NM_004912:exon17:c.A1980G:p.V660V,KRIT1:NM_194454:exon17:c.A1980G:p.V660V,KRIT1:NM_194455:exon17:c.A1980G:p.V660V,KRIT1:NM_001350674:exon18:c.A1980G:p.V660V,KRIT1:NM_001350681:exon18:c.A1980G:p.V660V,KRIT1:NM_001350682:exon18:c.A1980G:p.V660V,KRIT1:NM_001350697:exon18:c.A1980G:p.V660V,KRIT1:NM_194456:exon18:c.A1980G:p.V660V RS11542682 Serum creatinine:Triglycerides
7 92028039 1 ANKIB1 C A exonic nonsynonymous SNV ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M RS38794 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Triglycerides:HOMA-B:Aortic valve calcium
7 92131289 2 PEX1 G T exonic synonymous SNV PEX1:NM_001282677:exon13:c.C2160A:p.G720G,PEX1:NM_000466:exon14:c.C2331A:p.G777G,PEX1:NM_001282678:exon14:c.C1707A:p.G569G
7 97488569 2 ASNS A T exonic nonsynonymous SNV ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E RS1049674 APOB (apolipoprotein B):Body mass index (BMI)
7 97922851 1 BAIAP2L1 C T exonic synonymous SNV BAIAP2L1:NM_018842:exon14:c.G1518A:p.S506S RS12728 Triglycerides:Advanced age-related macular degeneration (geographic atrophy)
7 100285476 1 GIGYF1 C T exonic nonsynonymous SNV GIGYF1:NM_022574:exon3:c.G196A:p.A66T
7 100458795 2 SLC12A9 T C exonic synonymous SNV SLC12A9:NM_001267814:exon8:c.T987C:p.A329A,SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A RS314378 Total cholesterol:Diastolic blood pressure (DBP):Bipolar disorder
7 100460331 1 SLC12A9 G A exonic synonymous SNV SLC12A9:NM_001267814:exon11:c.G1473A:p.P491P,SLC12A9:NM_001267812:exon13:c.G1740A:p.P580P,SLC12A9:NM_020246:exon13:c.G1740A:p.P580P
7 100468284 2 TRIP6 A G exonic synonymous SNV TRIP6:NM_003302:exon6:c.A918G:p.V306V
7 100482026 2 SRRT T C exonic synonymous SNV SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L RS15624 Adiponectin levels
7 100486656 2 UFSP1 T G exonic synonymous SNV UFSP1:NM_001015072:exon1:c.A237C:p.V79V RS13241786 Total cholesterol:Diastolic blood pressure (DBP):Bipolar disorder
7 100731505 1 TRIM56 C G exonic synonymous SNV TRIM56:NM_030961:exon3:c.C912G:p.A304A
7 100731776 1 TRIM56 C T exonic nonsynonymous SNV TRIM56:NM_030961:exon3:c.C1183T:p.R395W
7 100731829 1 TRIM56 T C exonic synonymous SNV TRIM56:NM_030961:exon3:c.T1236C:p.A412A RS6948536 Gene expression of Hs.397369 in JPT lymphoblastoid cell lines:HDL cholesterol:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression change of VGF (ENSG00000128564) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of MUC17 in normal prepouch ileum:Adiponectin levels:Acute lung injury following major trauma
7 101916647 2 CUX1 A G exonic synonymous SNV CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A
7 101917521 2 CUX1 G A exonic nonsynonymous SNV CUX1:NM_001202544:exon15:c.G1342A:p.A448T,CUX1:NM_001202545:exon15:c.G1252A:p.A418T,CUX1:NM_001202546:exon15:c.G1273A:p.A425T,CUX1:NM_001913:exon16:c.G1390A:p.A464T,CUX1:NM_181500:exon16:c.G1384A:p.A462T RS803064 Triglycerides change with statins:Body mass index (BMI):Urinary albumin-to-creatinine ratio
7 102389833 2 FAM185A G C exonic nonsynonymous SNV FAM185A:NM_001145268:exon1:c.G179C:p.G60A,FAM185A:NM_001145269:exon1:c.G179C:p.G60A,FAM185A:NM_001350987:exon1:c.G179C:p.G60A
7 102743893 2 NAPEPLD C T exonic nonsynonymous SNV NAPEPLD:NM_001122838:exon5:c.G1165A:p.D389N,NAPEPLD:NM_198990:exon5:c.G1165A:p.D389N RS3181009 Gene expression of SVH in YRI lymphoblastoid cell lines
7 103007949 2 PSMC2 A C exonic synonymous SNV PSMC2:NM_002803:exon10:c.A934C:p.R312R
7 107569517 1 LAMB1 A G exonic synonymous SNV LAMB1:NM_002291:exon31:c.T4879C:p.L1627L
7 107603431 1 LAMB1 A C exonic synonymous SNV LAMB1:NM_002291:exon15:c.T1776G:p.P592P RS2230156 Salmonella-induced pyroptosis
7 107849908 2 NRCAM G T exonic nonsynonymous SNV NRCAM:NM_001037132:exon9:c.C1032A:p.N344K,NRCAM:NM_001193583:exon11:c.C975A:p.N325K,NRCAM:NM_001193584:exon11:c.C975A:p.N325K,NRCAM:NM_005010:exon11:c.C1014A:p.N338K,NRCAM:NM_001193582:exon12:c.C1032A:p.N344K RS1269621 Diastolic blood pressure (DBP):Hypertension (early onset hypertension):Years of education:Refractive error
7 114619598 2 MDFIC C A exonic synonymous SNV MDFIC:NM_001166345:exon4:c.C255A:p.A85A,MDFIC:NM_199072:exon4:c.C582A:p.A194A
7 116435768 1 MET C T exonic synonymous SNV MET:NM_001324402:exon19:c.C2568T:p.D856D,MET:NM_000245:exon20:c.C3858T:p.D1286D,MET:NM_001127500:exon20:c.C3912T:p.D1304D RS41736 HDL cholesterol:Triglycerides:Simpson-Angus Scale:HOMA-B:Triglycerides:HDL cholesterol:Transmission distortion:Paternal transmission distortion
7 116436022 1 MET G A exonic synonymous SNV MET:NM_001324402:exon20:c.G2727A:p.A909A,MET:NM_000245:exon21:c.G4017A:p.A1339A,MET:NM_001127500:exon21:c.G4071A:p.A1357A RS2023748 HDL cholesterol:Triglycerides:HOMA-B:Triglycerides:HDL cholesterol
7 116436097 1 MET G A exonic synonymous SNV MET:NM_001324402:exon20:c.G2802A:p.P934P,MET:NM_000245:exon21:c.G4092A:p.P1364P,MET:NM_001127500:exon21:c.G4146A:p.P1382P RS41737 HDL cholesterol:Triglycerides:HOMA-B:Triglycerides:HDL cholesterol
7 120428799 2 TSPAN12 C A exonic synonymous SNV TSPAN12:NM_012338:exon8:c.G765T:p.P255P RS41623 HDL cholesterol:Age at death with kuru exposure:Years of education:Diabetic retinopathy in Type 2 diabetes mellitus
7 123388732 2 WASL G A exonic synonymous SNV WASL:NM_003941:exon1:c.C57T:p.S19S
7 124387374 2 GPR37 A G exonic synonymous SNV GPR37:NM_005302:exon2:c.T1047C:p.T349T RS724356 HOMA-B:Fasting insulin:HOMA-IR:Microalbuminuria:Mitral annular calcium
7 127222157 1 GCC1 G A exonic synonymous SNV GCC1:NM_024523:exon2:c.C2239T:p.L747L
7 127224286 1 GCC1 A G exonic synonymous SNV GCC1:NM_024523:exon1:c.T951C:p.D317D RS3735642 Parkinson's disease:Mitral annular calcium
7 128038555 1 IMPDH1 C G exonic synonymous SNV IMPDH1:NM_001142575:exon6:c.G657C:p.L219L,IMPDH1:NM_001142573:exon7:c.G732C:p.L244L,IMPDH1:NM_001142574:exon7:c.G717C:p.L239L,IMPDH1:NM_001304521:exon7:c.G780C:p.L260L,IMPDH1:NM_183243:exon8:c.G879C:p.L293L,IMPDH1:NM_001102605:exon9:c.G957C:p.L319L,IMPDH1:NM_001142576:exon9:c.G888C:p.L296L,IMPDH1:NM_000883:exon10:c.G987C:p.L329L
7 128607384 1 TNPO3 G A exonic synonymous SNV TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A RS8043 Gene expression of IRF5 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting insulin:Triglycerides change with statins:Total cholesterol change with statins:Body mass index (BMI):Systolic blood pressure (SBP):Gene expression of IRF5 (probeID ILMN_1670576) in whole blood:Gene expression of IRF5 (probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of IRF5 (probeID ILMN_2312606) in cerebellum in Alzheimer's disease cases and controls
7 128641226 1 TNPO3 G C exonic synonymous SNV TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L RS2305324 Parkinson's disease (PD):Gene expression of IRF5 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TNIP3 in CHB-JPT lymphoblastoid cell lines:Gene expression of IRF5 [probe 205469_s_at] in lymphoblastoid cell lines:Gene expression of IRF5 [probe 239412_at] in lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting insulin:Triglycerides change with statins:Waist hip ratio:Systolic blood pressure (SBP):Adiponectin levels:Gene expression of IRF5 (probeID ILMN_2312606) in cerebellum in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of IRF5 (probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases and controls
7 129297332 1 NRF1 T G exonic synonymous SNV NRF1:NM_001040110:exon2:c.T141G:p.S47S,NRF1:NM_001293163:exon2:c.T141G:p.S47S,NRF1:NM_005011:exon2:c.T141G:p.S47S RS1882094 HDL cholesterol:Premature ovarian failure:Biploar disorder (bipolar schizoaffective disorder):Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):Major depressive disorder:Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (females):Late onset Alzheimer's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):College completion
7 133580447 2 EXOC4 G A exonic synonymous SNV EXOC4:NM_021807:exon12:c.G1830A:p.V610V RS2042456 HDL cholesterol change with statins:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 133749164 1 EXOC4 G A exonic synonymous SNV EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q RS6953296 HDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:College completion
7 134849280 2 TMEM140 T A exonic nonsynonymous SNV TMEM140:NM_018295:exon2:c.T87A:p.F29L RS292501 Gene expression of MGC5242 in YRI lymphoblastoid cell lines:Simpson-Angus Scale:Breast cancer
7 134889141 1 WDR91 G A exonic nonsynonymous SNV WDR91:NM_014149:exon6:c.C770T:p.P257L RS292592 Gene expression of MGC5242 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Longstanding arthritis:Differential exon level expression of WDR91 [probe 3074291] in peripheral blood mononuclear cells:Fasting blood glucose:Triglycerides:Gene expression of TMEM140///C7orf49 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
7 135047703 2 CNOT4 T C exonic synonymous SNV CNOT4:NM_001190847:exon11:c.A1863G:p.T621T,CNOT4:NM_013316:exon11:c.A1854G:p.T618T,CNOT4:NM_001190849:exon12:c.A2067G:p.T689T,CNOT4:NM_001190850:exon12:c.A2076G:p.T692T RS6969632 Salmonella-induced pyroptosis
7 135304273 2 NUP205 G C exonic nonsynonymous SNV NUP205:NM_001329434:exon29:c.G2992C:p.E998Q,NUP205:NM_015135:exon29:c.G4066C:p.E1356Q RS7810767 Urinary albumin-to-creatinine ratio:Salmonella-induced pyroptosis
7 135329690 1 NUP205 T C exonic synonymous SNV NUP205:NM_001329434:exon40:c.T4533C:p.A1511A,NUP205:NM_015135:exon40:c.T5607C:p.A1869A RS12540688 Schizophrenia:Cystatin C in serum:Total cholesterol:Maternal transmission distortion
7 138732457 1 ZC3HAV1 G A exonic synonymous SNV ZC3HAV1:NM_020119:exon13:c.C2592T:p.F864F RS3735008 Differential exon level expression of ZC3HAV1 [probe 3075569] in peripheral blood mononuclear cells:Comorbid depressive syndrome and alcohol dependence:Refractive error:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 138732497 1 ZC3HAV1 G A exonic nonsynonymous SNV ZC3HAV1:NM_020119:exon13:c.C2552T:p.T851I RS3735007 Parkinson's disease
7 139026152 1 C7orf55-LUC7L2;FMC1 T G exonic nonsynonymous SNV C7orf55-LUC7L2:NM_001244584:exon1:c.T22G:p.S8A,FMC1:NM_197964:exon1:c.T22G:p.S8A RS10265 Fasting blood glucose:Total cholesterol:LDL cholesterol
7 143560609 2 TCAF1 C T exonic nonsynonymous SNV TCAF1:NM_001206938:exon3:c.G901A:p.V301I,TCAF1:NM_014719:exon3:c.G901A:p.V301I
7 148801091 2 ZNF425 G A exonic synonymous SNV ZNF425:NM_001001661:exon4:c.C1872T:p.N624N RS11525060 Rheumatoid arthritis:Gene expression of ZNF786 in normal prepouch ileum:Gene expression of ZNF425 in normal prepouch ileum
7 148801658 2 ZNF425 C T exonic synonymous SNV ZNF425:NM_001001661:exon4:c.G1305A:p.Q435Q RS1137432 Comorbid depressive syndrome and alcohol dependence:Gene expression of ZNF425 (ENSG00000204947) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ZNF786 in normal prepouch ileum:Gene expression of ZNF425 in normal prepouch ileum
7 148851213 2 ZNF398 G A exonic synonymous SNV ZNF398:NM_170686:exon2:c.G201A:p.L67L RS917124 Serum creatinine:Gene expression of ZNF425 in peripheral blood monocytes:Gene expression of YBX2 in peripheral blood monocytes:Gene expression of ZNF786 in normal prepouch ileum
7 149462523 1 ZNF467 C G exonic synonymous SNV ZNF467:NM_207336:exon5:c.G1068C:p.A356A
7 150034184 1 LRRC61 T C exonic synonymous SNV LRRC61:NM_023942:exon2:c.T234C:p.A78A,LRRC61:NM_001142928:exon3:c.T234C:p.A78A RS3735170 Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Caudal pons:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Frontal cortex:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Temporal cortex:Methylation levels at chr7:149657933-149657983 [hg18 coord, probe cg04999691] in Cerebellum:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Cerebellum:Body mass index (BMI):Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases:Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in non-Alzheimer's disease samples:Gene expression of LRRC61 in normal prepouch ileum:Parkinson's disease:Gene expression of RARRES2 in normal prepouch ileum:Birth weight
7 150034378 1 LRRC61 A G exonic nonsynonymous SNV LRRC61:NM_023942:exon2:c.A428G:p.N143S,LRRC61:NM_001142928:exon3:c.A428G:p.N143S RS3735169 Gene expression of C7orf29 in CEU lymphoblastoid cell lines:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Caudal pons:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Frontal cortex:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Temporal cortex:Methylation levels at chr7:149657933-149657983 [hg18 coord, probe cg04999691] in Cerebellum:Methylation levels at chr7:149657614-149657664 [hg18 coord, probe cg12556325] in Cerebellum:Body mass index (BMI):Parkinson's disease:Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases:Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Gene expression of LRRC61 (probeID ILMN_1669722) in cerebellum in non-Alzheimer's disease samples
7 150068605 1 REPIN1 G A exonic nonsynonymous SNV REPIN1:NM_014374:exon1:c.G275A:p.R92H,REPIN1:NM_001099696:exon2:c.G275A:p.R92H,REPIN1:NM_001099695:exon3:c.G446A:p.R149H,REPIN1:NM_013400:exon4:c.G275A:p.R92H
7 150068620 1 REPIN1 C T exonic nonsynonymous SNV REPIN1:NM_014374:exon1:c.C290T:p.A97V,REPIN1:NM_001099696:exon2:c.C290T:p.A97V,REPIN1:NM_001099695:exon3:c.C461T:p.A154V,REPIN1:NM_013400:exon4:c.C290T:p.A97V
7 150093701 2 ZNF775 A C exonic synonymous SNV ZNF775:NM_173680:exon3:c.A132C:p.I44I RS940453 Coronary artery disease (CAD):2 hour glucose:Birth weight
7 150648789 2 KCNH2 T C exonic synonymous SNV KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L RS1805121 Height:Microalbuminuria:Advanced age-related macular degeneration (geographic atrophy)
7 150765065 2 SLC4A2 T C exonic synonymous SNV SLC4A2:NM_001199693:exon7:c.T1044C:p.T348T,SLC4A2:NM_001199694:exon7:c.T1029C:p.T343T,SLC4A2:NM_001199692:exon8:c.T1071C:p.T357T,SLC4A2:NM_003040:exon8:c.T1071C:p.T357T
7 150916228 2 ABCF2 G A exonic synonymous SNV ABCF2:NM_005692:exon8:c.C939T:p.Y313Y,ABCF2:NM_007189:exon8:c.C939T:p.Y313Y RS6949587 Alzheimer's disease:Plasma renin activity:Height:Microalbuminuria:Gene expression of ABCF2 [probeset 209246_at] in sputum:Gene expression of ABCF2 in normal prepouch ileum:College completion:Years of education
7 150921950 2 ABCF2 A G exonic synonymous SNV ABCF2:NM_005692:exon3:c.T279C:p.L93L,ABCF2:NM_007189:exon3:c.T279C:p.L93L
7 150931268 2 CHPF2 C G exonic synonymous SNV CHPF2:NM_019015:exon1:c.C171G:p.S57S,CHPF2:NM_001284295:exon2:c.C147G:p.S49S RS2608293 Height:Microalbuminuria:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:College completion:Years of education
7 150934975 2 CHPF2 C G exonic synonymous SNV CHPF2:NM_019015:exon4:c.C1527G:p.A509A,CHPF2:NM_001284295:exon5:c.C1503G:p.A501A RS2487154 Height:Microalbuminuria:Years of education:Parkinson's disease:College completion
7 151064064 1 NUB1 C T exonic synonymous SNV NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y RS386956 Triglycerides change with statins:Lp-PLA2 mass:Gene expression of WDR86 in peripheral blood monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
7 151074296 1 NUB1 A G exonic synonymous SNV NUB1:NM_001243351:exon15:c.A1905G:p.A635A,NUB1:NM_016118:exon15:c.A1863G:p.A621A RS2159158 Fasting blood glucose:HDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Infant head circumference
7 151181846 1 RHEB G A exonic stopgain RHEB:NM_005614:exon3:c.C169T:p.Q57X
7 156469133 2 RNF32 C G exonic nonsynonymous SNV RNF32:NM_001184996:exon9:c.C873G:p.H291Q,RNF32:NM_001184997:exon9:c.C873G:p.H291Q,RNF32:NM_030936:exon9:c.C873G:p.H291Q RS2302147 Gene expression of C7orf13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Myopia:Refractive error
7 156469179 2 RNF32 C T exonic nonsynonymous SNV RNF32:NM_001184996:exon9:c.C919T:p.R307C,RNF32:NM_001184997:exon9:c.C919T:p.R307C,RNF32:NM_030936:exon9:c.C919T:p.R307C RS2302146 Gene expression of C7orf13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Refractive error:Gene expression of C7orf13 in normal prepouch ileum
7 157000176 1 UBE3C T C exonic synonymous SNV UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y RS2301914 Gene expression of probe 1560738_at in lymphoblastoid cell lines:Gene expression of probe 1560739_a_at in lymphoblastoid cell lines:Body mass index (BMI):Atopic dermatitis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 158534372 1 ESYT2 G A exonic synonymous SNV ESYT2:NM_020728:exon17:c.C2091T:p.A697A
7 158534381 1 ESYT2 G C exonic synonymous SNV ESYT2:NM_020728:exon17:c.C2082G:p.P694P
7 158536267 1 ESYT2 T C exonic nonsynonymous SNV ESYT2:NM_020728:exon16:c.A1828G:p.S610G RS2305473 Gene expression of KIAA1228 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol
7 158536334 1 ESYT2 G A exonic synonymous SNV ESYT2:NM_020728:exon16:c.C1761T:p.N587N
7 158536345 1 ESYT2 A G exonic nonsynonymous SNV ESYT2:NM_020728:exon16:c.T1750C:p.S584P RS2305475 LDL cholesterol:Microalbuminuria
7 158672476 2 WDR60 C G exonic nonsynonymous SNV WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K RS2709859 Aortic valve calcium
7 158715219 2 WDR60 A G exonic synonymous SNV WDR60:NM_001350915:exon15:c.A1500G:p.K500K,WDR60:NM_001350916:exon15:c.A612G:p.K204K,WDR60:NM_001350914:exon16:c.A1935G:p.K645K,WDR60:NM_018051:exon16:c.A2073G:p.K691K,WDR60:NM_001350917:exon17:c.A825G:p.K275K,WDR60:NM_001350918:exon18:c.A825G:p.K275K RS2730238 Gene expression of WDR60 in peripheral blood monocytes:Gene expression of ST8SIA6 in peripheral blood monocytes
8 363192 2 FBXO25 G A exonic nonsynonymous SNV FBXO25:NM_183420:exon2:c.G113A:p.R38H,FBXO25:NM_183421:exon2:c.G113A:p.R38H
8 618728 2 ERICH1 A G exonic synonymous SNV ERICH1:NM_001303100:exon5:c.T1128C:p.L376L,ERICH1:NM_207332:exon5:c.T1128C:p.L376L
8 2852951 2
8 6296550 2 MCPH1 G T exonic nonsynonymous SNV MCPH1:NM_001172574:exon6:c.G513T:p.R171S,MCPH1:NM_001322042:exon6:c.G513T:p.R171S,MCPH1:NM_001322043:exon6:c.G507T:p.R169S,MCPH1:NM_001322045:exon6:c.G411T:p.R137S,MCPH1:NM_024596:exon6:c.G513T:p.R171S RS2442513 Total cholesterol
8 6302183 2 MCPH1 G C exonic nonsynonymous SNV MCPH1:NM_001172575:exon7:c.G796C:p.D266H,MCPH1:NM_001172574:exon8:c.G940C:p.D314H,MCPH1:NM_001322042:exon8:c.G940C:p.D314H,MCPH1:NM_001322043:exon8:c.G934C:p.D312H,MCPH1:NM_001322045:exon8:c.G838C:p.D280H,MCPH1:NM_024596:exon8:c.G940C:p.D314H RS930557 Fasting blood glucose:Obesity with early age of onset (age >2)
8 6302418 2 MCPH1 A G exonic nonsynonymous SNV MCPH1:NM_001172575:exon7:c.A1031G:p.D344G,MCPH1:NM_001172574:exon8:c.A1175G:p.D392G,MCPH1:NM_001322042:exon8:c.A1175G:p.D392G,MCPH1:NM_001322043:exon8:c.A1169G:p.D390G,MCPH1:NM_001322045:exon8:c.A1073G:p.D358G,MCPH1:NM_024596:exon8:c.A1175G:p.D392G
8 8234077 2 PRAG1 G C exonic synonymous SNV PRAG1:NM_001080826:exon3:c.C1842G:p.A614A RS4840952 Triglycerides:Total cholesterol:Body mass index (BMI):Parkinson's disease
8 8234192 2 PRAG1 G C exonic nonsynonymous SNV PRAG1:NM_001080826:exon3:c.C1727G:p.S576C RS4840953 Total cholesterol:Body mass index (BMI):Microalbuminuria:Parkinson's disease:College completion
8 8234714 2 PRAG1 C T exonic nonsynonymous SNV PRAG1:NM_001080826:exon3:c.G1205A:p.R402Q
8 8747894 2 MFHAS1 A G exonic nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T2675C:p.L892P RS429433 Hip bone mineral density (BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Birth weight
8 9577940 2 TNKS T C exonic synonymous SNV TNKS:NM_003747:exon12:c.T1806C:p.G602G
8 11683653 2 FDFT1 T C exonic synonymous SNV FDFT1:NM_001287756:exon2:c.T130C:p.L44L,FDFT1:NM_001287750:exon4:c.T808C:p.L270L,FDFT1:NM_001287751:exon4:c.T376C:p.L126L,FDFT1:NM_001287744:exon5:c.T439C:p.L147L,FDFT1:NM_001287747:exon5:c.T439C:p.L147L,FDFT1:NM_001287748:exon5:c.T439C:p.L147L,FDFT1:NM_001287749:exon5:c.T439C:p.L147L,FDFT1:NM_004462:exon5:c.T631C:p.L211L,FDFT1:NM_001287743:exon6:c.T631C:p.L211L,FDFT1:NM_001287745:exon6:c.T439C:p.L147L,FDFT1:NM_001287742:exon7:c.T631C:p.L211L
8 11689119 2 FDFT1 G C exonic synonymous SNV FDFT1:NM_001287756:exon4:c.G471C:p.L157L,FDFT1:NM_001287750:exon6:c.G1149C:p.L383L,FDFT1:NM_001287751:exon6:c.G717C:p.L239L,FDFT1:NM_001287744:exon7:c.G780C:p.L260L,FDFT1:NM_001287747:exon7:c.G780C:p.L260L,FDFT1:NM_001287748:exon7:c.G780C:p.L260L,FDFT1:NM_001287749:exon7:c.G780C:p.L260L,FDFT1:NM_004462:exon7:c.G972C:p.L324L,FDFT1:NM_001287743:exon8:c.G972C:p.L324L,FDFT1:NM_001287745:exon8:c.G780C:p.L260L,FDFT1:NM_001287742:exon9:c.G972C:p.L324L RS9205 Triglycerides:Triglycerides:Waist hip ratio:Body mass index (BMI):Parkinson's disease:Refractive error:College completion
8 11706581 2 CTSB T C exonic synonymous SNV CTSB:NM_001908:exon5:c.A420G:p.T140T,CTSB:NM_147781:exon6:c.A420G:p.T140T,CTSB:NM_147782:exon6:c.A420G:p.T140T,CTSB:NM_147783:exon6:c.A420G:p.T140T,CTSB:NM_147780:exon7:c.A420G:p.T140T
8 11710888 2 CTSB G C exonic nonsynonymous SNV CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V RS12338 Triglycerides:LDL cholesterol:Parkinson's disease
8 13424583 2 C8orf48 C T exonic nonsynonymous SNV C8orf48:NM_001007090:exon1:c.C83T:p.S28F RS13273355 LDL cholesterol:Atopy:Allergic rhinitis
8 13425353 2 C8orf48 T A exonic nonsynonymous SNV C8orf48:NM_001007090:exon1:c.T853A:p.L285M
8 17142065 2 VPS37A C T exonic synonymous SNV VPS37A:NM_001145152:exon9:c.C978T:p.D326D,VPS37A:NM_152415:exon10:c.C1053T:p.D351D RS2285269 Parkinson's disease
8 17500223 2 PDGFRL T C exonic synonymous SNV PDGFRL:NM_006207:exon7:c.T1041C:p.F347F RS4705 HOMA-IR:Total cholesterol change with statins:Gene expression of FGL1 [probe 205305_at] in prefrontal cortex:Body mass index (BMI):Diastolic blood pressure (DBP):Birth weight
8 17541999 2 MTUS1 T C exonic synonymous SNV MTUS1:NM_020749:exon2:c.A174G:p.T58T,MTUS1:NM_001001931:exon4:c.A417G:p.T139T,MTUS1:NM_001166393:exon4:c.A111G:p.T37T,MTUS1:NM_001001925:exon6:c.A2514G:p.T838T,MTUS1:NM_001001924:exon7:c.A2676G:p.T892T RS2979792 Birth weight
8 17743020 2 FGL1 G A exonic nonsynonymous SNV FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I RS484373 Spine bone mineral density (BMD):Triglycerides:Height:Gene expression of PCM1 in blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls
8 17796382 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S RS412750 Hip bone mineral density (BMD):Triglycerides:Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17796383 2 PCM1 C T exonic synonymous SNV PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N
8 17814915 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V RS208753 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of PCM1 in blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17817553 2 PCM1 G T exonic nonsynonymous SNV PCM1:NM_001315507:exon14:c.G2071T:p.A691S,PCM1:NM_001315508:exon14:c.G2074T:p.A692S,PCM1:NM_006197:exon14:c.G2071T:p.A691S RS17635381 Rheumatoid arthritis, cyclic citrullinated peptide (CCP) positive:Triglycerides:Biploar disorder (bipolar schizoaffective disorder):Serum creatinine:Advanced age-related macular degeneration (geographic atrophy):Adiponectin levels:Birth weight:Advanced age-related macular degeneration
8 17820714 2 PCM1 A T exonic synonymous SNV PCM1:NM_001315507:exon17:c.A2568T:p.L856L,PCM1:NM_001315508:exon17:c.A2571T:p.L857L,PCM1:NM_006197:exon17:c.A2568T:p.L856L RS6991775 Triglycerides:Serum creatinine:Advanced age-related macular degeneration:Adiponectin levels:Birth weight:Advanced age-related macular degeneration (geographic atrophy)
8 17918934 2 ASAH1 A G exonic nonsynonymous SNV ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A RS10103355 Serum creatinine:Adiponectin levels
8 17927327 2 ASAH1 T C exonic nonsynonymous SNV ASAH1:NM_004315:exon4:c.A325G:p.I109V,ASAH1:NM_177924:exon4:c.A277G:p.I93V RS1049874 Differential exon level expression of ASAH1 [probe 3126118] in brain cortex:LDL cholesterol:Total cholesterol:Partial epilepsy:Height:Gene expression of ASAH1 in blood:Sporadic Creutzfeldt-Jakob disease:College completion
8 18729817 2 PSD3 G A exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.C557T:p.T186M RS7016219 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:HDL cholesterol:Bipolar disorder:Obesity with early age of onset (age >2):Mitral annular calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
8 18729818 2 PSD3 T G exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.A556C:p.T186P RS7003060 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2):Mitral annular calcium
8 22262321 2 SLC39A14 T C exonic nonsynonymous SNV SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_001351659:exon2:c.T128C:p.L43P,SLC39A14:NM_001351660:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P,SLC39A14:NM_001351655:exon3:c.T98C:p.L33P,SLC39A14:NM_001351658:exon3:c.T128C:p.L43P,SLC39A14:NM_001351656:exon4:c.T98C:p.L33P,SLC39A14:NM_001351657:exon4:c.T128C:p.L43P RS896378 Rheumatoid arthritis
8 22262418 2 SLC39A14 A G exonic synonymous SNV SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_001351659:exon2:c.A225G:p.L75L,SLC39A14:NM_001351660:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L,SLC39A14:NM_001351655:exon3:c.A195G:p.L65L,SLC39A14:NM_001351658:exon3:c.A225G:p.L75L,SLC39A14:NM_001351656:exon4:c.A195G:p.L65L,SLC39A14:NM_001351657:exon4:c.A225G:p.L75L RS2293144 Rheumatoid arthritis
8 22428658 2 SORBS3 T C exonic nonsynonymous SNV SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T RS2449331 Autism with low IQ:Obesity with early age of onset (age >2)
8 22864622 2 RHOBTB2 T C exonic synonymous SNV RHOBTB2:NM_001160037:exon5:c.T885C:p.S295S,RHOBTB2:NM_015178:exon5:c.T864C:p.S288S,RHOBTB2:NM_001160036:exon7:c.T930C:p.S310S RS2466178 Irritible bowel syndrome:Alzheimer's disease:HOMA-IR:Fasting insulin:HDL cholesterol:Gene expression of PEBP4 (probeID ILMN_1734472) in cerebellum in Alzheimer's disease cases and controls:College completion:Gene expression of PEBP4 (probeID ILMN_1734472) in temporal cortex in Alzheimer's disease cases and controls
8 22886020 2 TNFRSF10B A G exonic nonsynonymous SNV TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A
8 22900701 2 TNFRSF10B G A exonic nonsynonymous SNV TNFRSF10B:NM_003842:exon2:c.C200T:p.A67V,TNFRSF10B:NM_147187:exon2:c.C200T:p.A67V RS1047266 Alzheimer's disease:Cystatin C in serum:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
8 22926313 2 TNFRSF10B G A exonic nonsynonymous SNV TNFRSF10B:NM_003842:exon1:c.C95T:p.P32L,TNFRSF10B:NM_147187:exon1:c.C95T:p.P32L
8 23001988 2 TNFRSF10D A G exonic nonsynonymous SNV TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S RS1133782 Gene expression of RHOBTB2///TNFRSF10B in blood
8 23021346 2 TNFRSF10D G A exonic nonsynonymous SNV TNFRSF10D:NM_003840:exon1:c.C103T:p.P35S
8 23049292 2 TNFRSF10A C T exonic nonsynonymous SNV TNFRSF10A:NM_003844:exon10:c.G1322A:p.R441K RS2230229 Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of [probe 6940047 centered at chr8:23177910] in blood:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
8 23060256 2 TNFRSF10A T C exonic nonsynonymous SNV TNFRSF10A:NM_003844:exon3:c.A422G:p.H141R RS6557634 Parkinson's disease (PD):Response to Lithium Treatment for Bipolar disorder:Gene expression of [probe 670494 centered at chr8:23143927] in blood:Gene expression of TNFRSF10A in blood
8 23147564 2 R3HCC1;R3HCC1 G A exonic;splicing nonsynonymous SNV R3HCC1:NM_001136108:exon4:c.G434A:p.R145K RS3808536 Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Total cholesterol:Height:Gene expression of [probe 6940047 centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood
8 23148930 2 R3HCC1 A G exonic synonymous SNV R3HCC1:NM_001136108:exon5:c.A909G:p.T303T,R3HCC1:NM_001301650:exon6:c.A783G:p.T261T RS2272762 Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Height
8 23148940 2 R3HCC1 G A exonic nonsynonymous SNV R3HCC1:NM_001136108:exon5:c.G919A:p.V307M,R3HCC1:NM_001301650:exon6:c.G793A:p.V265M RS2272761 Triglycerides:Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Height:Gene expression of [probe 6940047 centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood:Gene expression of R3HCC1 in normal prepouch ileum
8 23150878 2 R3HCC1 T G exonic nonsynonymous SNV R3HCC1:NM_001136108:exon6:c.T1088G:p.L363R,R3HCC1:NM_001301650:exon7:c.T962G:p.L321R RS13530 Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males)
8 23152334 2 R3HCC1 A G exonic synonymous SNV R3HCC1:NM_001136108:exon7:c.A1149G:p.T383T,R3HCC1:NM_001301650:exon8:c.A1023G:p.T341T
8 25203022 2 DOCK5 A G exonic synonymous SNV DOCK5:NM_024940:exon26:c.A2649G:p.T883T
8 25234858 2 DOCK5 A G exonic nonsynonymous SNV DOCK5:NM_024940:exon38:c.A3854G:p.K1285R
8 25323777 2 CDCA2 T C exonic synonymous SNV CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N
8 26481771 2 DPYSL2 T C exonic synonymous SNV DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S
8 26606201 1 ADRA1A C T exonic nonsynonymous SNV ADRA1A:NM_033303:exon3:c.G1334A:p.R445H
8 27311703 2 PTK2B T C exonic synonymous SNV PTK2B:NM_173175:exon28:c.T2502C:p.T834T,PTK2B:NM_173176:exon29:c.T2628C:p.T876T,PTK2B:NM_004103:exon30:c.T2628C:p.T876T,PTK2B:NM_173174:exon34:c.T2628C:p.T876T RS1879184 Diastolic blood pressure (DBP):Gene expression of PTK2B in normal prepouch ileum:College completion
8 27315876 2 PTK2B A G exonic synonymous SNV PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A RS1879182 Diastolic blood pressure (DBP):Gene expression of PTK2B in normal prepouch ileum:College completion
8 27667969 2 PBK C G exonic synonymous SNV PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A RS2294092 2 hour glucose:Triglycerides change with statins
8 28206275 2 ZNF395 G C exonic synonymous SNV ZNF395:NM_018660:exon10:c.C1503G:p.A501A RS1046511 HDL cholesterol change with statins:Mitral annular calcium:Years of education
8 29197672 2 DUSP4 A G exonic synonymous SNV DUSP4:NM_001394:exon2:c.T522C:p.S174S,DUSP4:NM_057158:exon3:c.T249C:p.S83S
8 29927300 2 SARAF C G exonic synonymous SNV SARAF:NM_001284239:exon2:c.G42C:p.A14A,SARAF:NM_016127:exon3:c.G558C:p.A186A
8 29927321 2 SARAF A G exonic synonymous SNV SARAF:NM_001284239:exon2:c.T21C:p.I7I,SARAF:NM_016127:exon3:c.T537C:p.I179I RS6468094 Salmonella-induced pyroptosis
8 30565624 2 GSR G A exonic nonsynonymous SNV GSR:NM_000637:exon4:c.C457T:p.R153C,GSR:NM_001195102:exon4:c.C457T:p.R153C,GSR:NM_001195103:exon4:c.C457T:p.R153C,GSR:NM_001195104:exon4:c.C457T:p.R153C
8 30585092 2 GSR A G exonic synonymous SNV GSR:NM_000637:exon1:c.T261C:p.G87G,GSR:NM_001195102:exon1:c.T261C:p.G87G,GSR:NM_001195103:exon1:c.T261C:p.G87G,GSR:NM_001195104:exon1:c.T261C:p.G87G
8 30585164 2 GSR G A exonic synonymous SNV GSR:NM_000637:exon1:c.C189T:p.A63A,GSR:NM_001195102:exon1:c.C189T:p.A63A,GSR:NM_001195103:exon1:c.C189T:p.A63A,GSR:NM_001195104:exon1:c.C189T:p.A63A
8 30608976 2 UBXN8 C T exonic unknown UNKNOWN
8 30924557 2 WRN C T exonic synonymous SNV WRN:NM_000553:exon6:c.C513T:p.C171C RS1800389 Birth weight
8 33356074 2 MAK16 A G exonic nonsynonymous SNV MAK16:NM_032509:exon10:c.A830G:p.Q277R RS6468171 Gallstone disease:Gene expression of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Differential exon level expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130770] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130803] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130777] in peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130781] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130806] in brain cortex:Differential exon level expression of FUT10 [probe 3130804] in peripheral blood mononuclear cells:Gene expression of RBM13 in peripheral blood monocytes:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Gene expression of MAK16 in liver:Gene expression of FUT10 in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Adiponectin levels:Infant head circumference:Years of education:Gene expression of FUT10 in normal prepouch ileum
8 33369944 2 TTI2 T C exonic nonsynonymous SNV TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G,TTI2:NM_001330505:exon2:c.A188G:p.E63G RS2304748 Gene expression of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Differential exon level expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130777] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130806] in brain cortex:Differential exon level expression of FUT10 [probe 3130770] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130804] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130803] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130781] in peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Asthma:Gene expression of FUT10 [probe ILMN_18464] in osteoblasts treated with PGE2:Gene expression of FUT10 [probe ILMN_18464] in untreated osteoblasts:Gene expression of FUT10 in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression of FUT10 (ENSG00000172728) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of FUT10 in normal prepouch ileum
8 33369994 2 TTI2 A G exonic synonymous SNV TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N,TTI2:NM_001330505:exon2:c.T138C:p.N46N RS3098657 Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels
8 33416189 2 RNF122 G A exonic synonymous SNV RNF122:NM_024787:exon2:c.C126T:p.F42F RS3735950 Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Gene expression of FUT10 in normal prepouch ileum:Infant head circumference:Salmonella-induced pyroptosis
8 37699195 2 ADGRA2 C G exonic synonymous SNV ADGRA2:NM_032777:exon19:c.C3339G:p.G1113G
8 37728017 2 RAB11FIP1 A G exonic nonsynonymous SNV RAB11FIP1:NM_025151:exon4:c.T1652C:p.M551T,RAB11FIP1:NM_001002814:exon5:c.T3554C:p.M1185T RS7817179 Fasting insulin:Rheumatoid arthritis
8 37728019 2 RAB11FIP1 T G exonic synonymous SNV RAB11FIP1:NM_025151:exon4:c.A1650C:p.A550A,RAB11FIP1:NM_001002814:exon5:c.A3552C:p.A1184A RS7820872 Rheumatoid arthritis
8 37730368 2 RAB11FIP1 G A exonic nonsynonymous SNV RAB11FIP1:NM_001002814:exon4:c.C1952T:p.A651V RS12541651 Fasting insulin:HOMA-IR:HOMA-B:Gene expression of RAB11FIP1 [transcript NM_001002814, probe A_23_P31873] in liver:Decrease in FEV1 (in asthmatic participants >=30 years old):Hypertension (early onset hypertension)
8 38095662 2 DDHD2 C T exonic nonsynonymous SNV DDHD2:NM_001164232:exon5:c.C557T:p.T186M,DDHD2:NM_001164234:exon5:c.C557T:p.T186M,DDHD2:NM_015214:exon5:c.C557T:p.T186M RS2306899 Methylation levels at chr8:38360051-38360101 [hg18 coord, probe cg25510610] in Caudal pons:Neuroblastoma (brain cancer):Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of WHSC1L1 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of BAG4 (probeID ILMN_2221014) in temporal cortex in Alzheimer's disease cases:Gene expression of BAG4 (probeID ILMN_2221014) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BAG4 (probeID ILMN_2221014) in cerebellum in Alzheimer's disease cases:Gene expression of BAG4 (probeID ILMN_2221014) in temporal cortex in Progressive Supranuclear Palsy cases:Primary rhegmatogenous retinal detachment:Gene expression of BAG4 (probeID ILMN_2221014) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of BAG4 (probeID ILMN_2221014) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BAG4 (probeID ILMN_2221014) in cerebellum in non-Alzheimer's disease samples
8 40011079 2 C8orf4 G A exonic nonsynonymous SNV C8orf4:NM_020130:exon1:c.G28A:p.V10I
8 43054553 2 HGSNAT T C exonic synonymous SNV HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y
8 48508458 1 SPIDR G A exonic nonsynonymous SNV SPIDR:NM_001282916:exon8:c.G973A:p.E325K,SPIDR:NM_001080394:exon9:c.G1183A:p.E395K,SPIDR:NM_001282919:exon9:c.G1003A:p.E335K
8 48885436 2 MCM4 T A exonic nonsynonymous SNV MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M RS762679 Serum creatinine:Waist hip ratio:Infant head circumference:Obesity with early age of onset (age >2)
8 49021256 2
8 56686224 2 TGS1 T C exonic nonsynonymous SNV TGS1:NM_024831:exon1:c.T47C:p.I16T RS1818 Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Gene expression of LYN in blood:Gene expression of TGS1 in blood:Aortic valve calcium
8 59512334 2 NSMAF G A exonic synonymous SNV NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D RS2680903 Irritible bowel syndrome:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Gene expression of TOX [probe 204529_s_at] in prefrontal cortex:Gene expression of SDCBP///NSMAF in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
8 74527996 2 STAU2 C T exonic nonsynonymous SNV STAU2:NM_001164383:exon3:c.G76A:p.V26M,STAU2:NM_001164385:exon5:c.G478A:p.V160M,STAU2:NM_001164382:exon6:c.G280A:p.V94M,STAU2:NM_001164384:exon6:c.G496A:p.V166M,STAU2:NM_001164381:exon7:c.G496A:p.V166M,STAU2:NM_014393:exon7:c.G496A:p.V166M,STAU2:NM_001164380:exon8:c.G592A:p.V198M RS949493 Rheumatoid arthritis:Differential exon level expression of STAU2 [probe 3140703] in brain cortex:Triglycerides change with statins:Chronic kidney disease:Lp-PLA2 mass:Asthma:Urinary albumin-to-creatinine ratio:PROP taste detection threshold
8 77895865 2 PEX2 A G exonic nonsynonymous SNV PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172086:exon5:c.T550C:p.C184R RS10087163 Fasting blood glucose:Comorbid depressive syndrome and alcohol dependence
8 95186382 2 CDH17 G A exonic synonymous SNV CDH17:NM_001144663:exon6:c.C531T:p.V177V,CDH17:NM_004063:exon6:c.C531T:p.V177V RS3214050 Height
8 95541371 2 VIRMA T A exonic synonymous SNV VIRMA:NM_015496:exon7:c.A807T:p.R269R,VIRMA:NM_183009:exon7:c.A807T:p.R269R RS957446 Obesity with early age of onset (age >2):Refractive error
8 95547119 2 VIRMA T G exonic synonymous SNV VIRMA:NM_015496:exon5:c.A432C:p.P144P,VIRMA:NM_183009:exon5:c.A432C:p.P144P RS2304764 LDL cholesterol:Total cholesterol:LDL cholesterol:Body mass index (BMI):Obesity with early age of onset (age >2)
8 98991221 2 MATN2 A G exonic nonsynonymous SNV MATN2:NM_001317748:exon6:c.A1066G:p.K356E,MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E
8 101153024 2 FBXO43 G A exonic synonymous SNV FBXO43:NM_001029860:exon2:c.C1458T:p.I486I RS1460934 2 hour glucose:Triglycerides:Height:Diastolic blood pressure (DBP):Gene expression of SPAG1 in normal prepouch ileum:Birth weight
8 101225559 2 SPAG1 C G exonic synonymous SNV SPAG1:NM_003114:exon11:c.C1338G:p.A446A,SPAG1:NM_172218:exon11:c.C1338G:p.A446A
8 104337096 1 FZD6 A G exonic synonymous SNV FZD6:NM_001164615:exon4:c.A762G:p.L254L,FZD6:NM_003506:exon4:c.A762G:p.L254L,FZD6:NM_001164616:exon5:c.A666G:p.L222L RS3808554 Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Total cholesterol
8 104343686 1 FZD6 G A exonic synonymous SNV FZD6:NM_001317796:exon6:c.G1155A:p.P385P,FZD6:NM_001164615:exon7:c.G2070A:p.P690P,FZD6:NM_003506:exon7:c.G2070A:p.P690P,FZD6:NM_001164616:exon8:c.G1974A:p.P658P RS1053917 Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons
8 104394744 2 CTHRC1 T C exonic synonymous SNV CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G RS3098233 LDL cholesterol:Gene expression of WDSOF1 [probe 3110341] in peripheral blood mononuclear cells:Premature ovarian failure
8 121210069 2 COL14A1 T C exonic synonymous SNV COL14A1:NM_021110:exon7:c.T612C:p.G204G RS2305598 LDL cholesterol:Autism with low IQ
8 123966159 2 ZHX2 G C exonic synonymous SNV ZHX2:NM_014943:exon3:c.G2409C:p.A803A RS3802265 Cystatin C in serum:Triglycerides
8 124824826 2 FAM91A1 G A exonic nonsynonymous SNV FAM91A1:NM_001317917:exon24:c.G1673A:p.C558Y,FAM91A1:NM_144963:exon24:c.G2399A:p.C800Y
8 131124559 2 ASAP1 T C exonic nonsynonymous SNV ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V RS966185 Triglycerides:Height:Gene expression of ASAP1 in blood
8 135614705 2 ZFAT A G exonic synonymous SNV ZFAT:NM_001174157:exon5:c.T1071C:p.R357R,ZFAT:NM_001167583:exon6:c.T1221C:p.R407R,ZFAT:NM_001174158:exon6:c.T1221C:p.R407R,ZFAT:NM_020863:exon6:c.T1257C:p.R419R,ZFAT:NM_001029939:exon7:c.T1221C:p.R407R,ZFAT:NM_001289394:exon7:c.T1221C:p.R407R RS3739423 Height:Waist hip ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Parkinson's disease:Adiponectin levels
8 141461062 2 TRAPPC9 G A exonic synonymous SNV TRAPPC9:NM_001160372:exon2:c.C411T:p.N137N,TRAPPC9:NM_001321646:exon2:c.C411T:p.N137N,TRAPPC9:NM_031466:exon2:c.C705T:p.N235N RS3735803 HOMA-B:Fasting blood glucose:Body mass index (BMI):PROP taste detection threshold:Acute lung injury following major trauma
8 141461185 2 TRAPPC9 A G exonic synonymous SNV TRAPPC9:NM_001160372:exon2:c.T288C:p.F96F,TRAPPC9:NM_001321646:exon2:c.T288C:p.F96F,TRAPPC9:NM_031466:exon2:c.T582C:p.F194F RS3735802 HOMA-B:Fasting blood glucose
8 141461266 2 TRAPPC9 A G exonic synonymous SNV TRAPPC9:NM_001160372:exon2:c.T207C:p.G69G,TRAPPC9:NM_001321646:exon2:c.T207C:p.G69G,TRAPPC9:NM_031466:exon2:c.T501C:p.G167G
8 143746069 2 JRK T C exonic synonymous SNV JRK:NM_001077527:exon3:c.A1407G:p.P469P,JRK:NM_001279352:exon3:c.A1407G:p.P469P,JRK:NM_003724:exon3:c.A1407G:p.P469P RS3735999 2 hour glucose:Mitral annular calcium:Years of education
8 143746416 2 JRK A G exonic synonymous SNV JRK:NM_001077527:exon2:c.T1062C:p.H354H,JRK:NM_001279352:exon2:c.T1062C:p.H354H,JRK:NM_003724:exon2:c.T1062C:p.H354H
8 143746701 2 JRK A G exonic synonymous SNV JRK:NM_001077527:exon2:c.T777C:p.N259N,JRK:NM_001279352:exon2:c.T777C:p.N259N,JRK:NM_003724:exon2:c.T777C:p.N259N RS3802232 Hip bone mineral density (BMD):Irritible bowel syndrome:Arthritis including non-Rheumatoid:Schizophrenia:2 hour glucose:Gene expression of JRK [probeset 216309_x_at] in sputum:Mitral annular calcium:Years of education
8 144332012 2 ZFP41 T C exonic startloss ZFP41:NM_001271156:exon2:c.T2C:p.M2del,ZFP41:NM_173832:exon2:c.T2C:p.M2del
8 144332082 2 ZFP41 T C exonic synonymous SNV ZFP41:NM_001271156:exon2:c.T72C:p.S24S,ZFP41:NM_173832:exon2:c.T72C:p.S24S
8 144351632 2 GLI4 A G exonic synonymous SNV GLI4:NM_138465:exon2:c.A66G:p.P22P
8 144358381 2 GLI4 G A exonic nonsynonymous SNV GLI4:NM_138465:exon4:c.G538A:p.A180T RS1056148 HDL cholesterol:Gene expression of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum in Alzheimer's disease cases and controls:Adiponectin levels
8 144378184 2 ZNF696 C G exonic synonymous SNV ZNF696:NM_030895:exon3:c.C339G:p.G113G
8 144378868 2 ZNF696 A G exonic synonymous SNV ZNF696:NM_030895:exon3:c.A1023G:p.R341R
8 144392368 2 TOP1MT G A exonic nonsynonymous SNV TOP1MT:NM_001258447:exon13:c.C1279T:p.R427W,TOP1MT:NM_052963:exon13:c.C1573T:p.R525W,TOP1MT:NM_001258446:exon14:c.C1279T:p.R427W RS2293925 Adiponectin levels:Gene expression of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum in Alzheimer's disease cases and controls
8 144671685 2 EEF1D G C exonic nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E
8 144732363 2 ZNF623 T C exonic synonymous SNV ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N
8 144732418 2 ZNF623 A G exonic nonsynonymous SNV ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D
8 144776109 2 ZNF707 A G exonic synonymous SNV ZNF707:NM_001288808:exon4:c.A417G:p.S139S,ZNF707:NM_001288809:exon4:c.A417G:p.S139S,ZNF707:NM_001100599:exon5:c.A525G:p.S175S,ZNF707:NM_001100598:exon6:c.A525G:p.S175S,ZNF707:NM_001288806:exon6:c.A525G:p.S175S,ZNF707:NM_001288807:exon6:c.A306G:p.S102S,ZNF707:NM_173831:exon7:c.A525G:p.S175S,ZNF707:NM_001288805:exon8:c.A525G:p.S175S
8 144809804 2 FAM83H G A exonic synonymous SNV FAM83H:NM_198488:exon5:c.C1827T:p.Y609Y
8 144811338 2 FAM83H C G exonic nonsynonymous SNV FAM83H:NM_198488:exon3:c.G603C:p.Q201H
8 144874554 2 SCRIB T C exonic synonymous SNV SCRIB:NM_015356:exon32:c.A4350G:p.P1450P,SCRIB:NM_182706:exon32:c.A4350G:p.P1450P
8 144885580 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F
8 144889172 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T RS10866915 Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis
8 144890873 2 SCRIB A T exonic nonsynonymous SNV SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E
8 144894496 2 SCRIB G A exonic synonymous SNV SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T RS4875060 Hip bone mineral density (BMD):Irritible bowel syndrome:Premature ovarian failure:Gene expression of ZNF707 [probe ILMN_20149] in osteoblasts treated with pge-2:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
8 144940300 1 EPPK1 G A exonic synonymous SNV EPPK1:NM_031308:exon2:c.C7122T:p.R2374R
8 145066886 2 GRINA A G exonic synonymous SNV GRINA:NM_000837:exon7:c.A993G:p.L331L,GRINA:NM_001009184:exon7:c.A993G:p.L331L
8 145150101 2 CYC1 T G exonic synonymous SNV CYC1:NM_001916:exon1:c.T99G:p.R33R
8 145150832 2 CYC1 A G exonic nonsynonymous SNV CYC1:NM_001916:exon2:c.A226G:p.M76V
8 145158503 2 SHARPIN G T exonic synonymous SNV SHARPIN:NM_030974:exon1:c.C154A:p.R52R RS11136254 Gene expression change of GPAA1 (ENSG00000197858) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of KIAA1875 (ENSG00000179698) in dendritic cells after treatment with Mycobacterium tuberculosis
8 145160646 2 MAF1 T C exonic synonymous SNV MAF1:NM_032272:exon2:c.T60C:p.T20T
8 145161823 2 MAF1 G A exonic nonsynonymous SNV MAF1:NM_032272:exon7:c.G706A:p.G236R
8 145223288 2 MROH1 C T exonic nonsynonymous SNV MROH1:NM_001099281:exon3:c.C113T:p.A38V,MROH1:NM_001288814:exon3:c.C113T:p.A38V,MROH1:NM_001099280:exon4:c.C113T:p.A38V,MROH1:NM_032450:exon4:c.C113T:p.A38V
8 145689915 2 CYHR1 G A exonic synonymous SNV CYHR1:NM_138496:exon2:c.C174T:p.H58H,CYHR1:NM_001129888:exon3:c.C174T:p.H58H,CYHR1:NM_032687:exon3:c.C174T:p.H58H
8 145692385 2 KIFC2 C T exonic synonymous SNV KIFC2:NM_145754:exon3:c.C222T:p.G74G
8 145737636 2 RECQL4 A G exonic synonymous SNV RECQL4:NM_004260:exon19:c.T3127C:p.L1043L
8 145742514 2 RECQL4 A G exonic nonsynonymous SNV RECQL4:NM_004260:exon4:c.T274C:p.S92P
8 145745182 2 LRRC14 T C exonic synonymous SNV LRRC14:NM_014665:exon2:c.T73C:p.L25L,LRRC14:NM_001272036:exon3:c.T73C:p.L25L
8 145756170 2 ARHGAP39 G A exonic synonymous SNV ARHGAP39:NM_001308208:exon10:c.C2973T:p.D991D,ARHGAP39:NM_025251:exon10:c.C3066T:p.D1022D,ARHGAP39:NM_001308207:exon11:c.C2973T:p.D991D
8 146033347 2 ZNF517 T C exonic nonsynonymous SNV ZNF517:NM_001317936:exon5:c.T1025C:p.V342A,ZNF517:NM_213605:exon5:c.T1046C:p.V349A
8 146115367 2 ZNF250 A G exonic synonymous SNV ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G
8 148631000 2
9 17011 2 WASHC1 T C exonic synonymous SNV WASHC1:NM_182905:exon7:c.A837G:p.P279P
9 17107 2 WASHC1 T C exonic synonymous SNV WASHC1:NM_182905:exon7:c.A741G:p.P247P
9 742342 2 KANK1 A G exonic synonymous SNV KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G
9 2811505 2 PUM3 G A exonic synonymous SNV PUM3:NM_014878:exon15:c.C1491T:p.H497H RS2270888 HDL cholesterol:Total cholesterol
9 4118111 2 GLIS3 G T exonic nonsynonymous SNV GLIS3:NM_152629:exon3:c.C902A:p.P301Q,GLIS3:NM_001042413:exon4:c.C1367A:p.P456Q RS6415788 Schizophrenia:Total cholesterol:LDL cholesterol:LDL cholesterol:Total cholesterol:Body mass index (BMI):Infant head circumference
9 4118208 2 GLIS3 A G exonic nonsynonymous SNV GLIS3:NM_152629:exon3:c.T805C:p.S269P,GLIS3:NM_001042413:exon4:c.T1270C:p.S424P
9 4576680 2 SLC1A1 T C exonic synonymous SNV SLC1A1:NM_004170:exon10:c.T1110C:p.T370T RS301430 Age at death with kuru exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
9 5968416 2 KIAA2026 A G exonic synonymous SNV KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L RS3739649 Height:Birth weight
9 12775889 2 LURAP1L A G exonic nonsynonymous SNV LURAP1L:NM_203403:exon1:c.A175G:p.S59G
9 13150531 2 MPDZ T C exonic synonymous SNV MPDZ:NM_001261406:exon25:c.A3609G:p.K1203K,MPDZ:NM_001261407:exon25:c.A3609G:p.K1203K,MPDZ:NM_001330637:exon25:c.A3609G:p.K1203K,MPDZ:NM_003829:exon25:c.A3609G:p.K1203K RS10756457 Birth weight
9 13176312 2 MPDZ C T exonic synonymous SNV MPDZ:NM_001261406:exon20:c.G2754A:p.S918S,MPDZ:NM_001261407:exon20:c.G2754A:p.S918S,MPDZ:NM_001330637:exon20:c.G2754A:p.S918S,MPDZ:NM_003829:exon20:c.G2754A:p.S918S RS2274856 Major depressive disorder (narrow definition) (males):Major depressive disorder (narrow definition):HDL cholesterol:LDL cholesterol:Bipolar disorder:Infant head circumference:Birth weight
9 15188106 2 TTC39B T C exonic nonsynonymous SNV TTC39B:NM_001168341:exon12:c.A1051G:p.I351V,TTC39B:NM_001168342:exon12:c.A763G:p.I255V,TTC39B:NM_001168340:exon13:c.A1219G:p.I407V,TTC39B:NM_001168339:exon14:c.A1252G:p.I418V,TTC39B:NM_152574:exon14:c.A1258G:p.I420V RS1407977 Schizophrenia:HDL cholesterol:Age at death with kuru exposure:Tetrology of fallot
9 17342383 2 CNTLN C T exonic synonymous SNV CNTLN:NM_017738:exon12:c.C1827T:p.D609D
9 19063108 2 HAUS6 T C exonic synonymous SNV HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L
9 19076673 2 HAUS6 G C exonic synonymous SNV HAUS6:NM_001270890:exon11:c.C1116G:p.P372P,HAUS6:NM_017645:exon11:c.C1221G:p.P407P
9 20866974 2 FOCAD C G exonic nonsynonymous SNV FOCAD:NM_017794:exon20:c.C2153G:p.T718S
9 33264540 2 BAG1 C G exonic nonsynonymous SNV BAG1:NM_004323:exon1:c.G133C:p.G45R
9 33927899 2 UBAP2 G A exonic nonsynonymous SNV UBAP2:NM_001282529:exon16:c.C1466T:p.A489V,UBAP2:NM_018449:exon20:c.C2267T:p.A756V
9 33941759 2 UBAP2 T C exonic nonsynonymous SNV UBAP2:NM_001282529:exon12:c.A1016G:p.N339S,UBAP2:NM_018449:exon16:c.A1817G:p.N606S RS307658 2 hour glucose:HOMA-B:HOMA-IR:Fasting insulin:Serum creatinine:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration:Hypertension (early onset hypertension):Infant head circumference:Parkinson's disease:Aortic valve calcium:Obesity with early age of onset (age >2)
9 34372783 2 KIAA1161 G C exonic unknown UNKNOWN
9 34372873 2 KIAA1161 C G exonic unknown UNKNOWN
9 34372931 2 KIAA1161 T A exonic unknown UNKNOWN RS2297776 Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease
9 35107858 2 FAM214B C T exonic synonymous SNV FAM214B:NM_001317991:exon3:c.G414A:p.S138S,FAM214B:NM_025182:exon3:c.G414A:p.S138S
9 35546735 2 RUSC2 A G exonic nonsynonymous SNV RUSC2:NM_001135999:exon2:c.A217G:p.T73A,RUSC2:NM_014806:exon2:c.A217G:p.T73A
9 35660990 2 CCDC107 A G exonic nonsynonymous SNV CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V RS1339374 Schizophrenia:Autism:Gene expression of CA9 [probe ILMN_26612] in osteoblasts with treatment interaction:Gene expression of TPM2 in blood:Gene expression of CA9///TPM2 in blood:Bipolar disorder:Gene expression change of MSMP (ENSG00000215183) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of MSMP (ENSG00000215183) in dendritic cells treated with Mycobacterium tuberculosis
9 35674053 2 CA9 G A exonic nonsynonymous SNV CA9:NM_001216:exon1:c.G97A:p.V33M RS2071676 HOMA-B
9 35704150 2 TLN1 C T exonic synonymous SNV TLN1:NM_006289:exon46:c.G6069A:p.A2023A RS10814270 LDL cholesterol:Height
9 37429814 2 GRHPR A G exonic synonymous SNV GRHPR:NM_012203:exon6:c.A579G:p.A193A RS309458 LDL cholesterol
9 37441808 2 ZBTB5 A G exonic synonymous SNV ZBTB5:NM_014872:exon2:c.T741C:p.D247D
9 37503124 2 POLR1E G A exonic synonymous SNV POLR1E:NM_022490:exon12:c.G1185A:p.K395K,POLR1E:NM_001282766:exon13:c.G975A:p.K325K
9 38395940 2 ALDH1B1 T C exonic synonymous SNV ALDH1B1:NM_000692:exon2:c.T195C:p.I65I
9 38396502 2 ALDH1B1 G A exonic nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G757A:p.V253M RS4878199 Abnormal Involuntary Movement Scale:Aortic valve calcium
9 49022700 2
9 71650752 2 FXN A G exonic synonymous SNV FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P
9 71862975 2 TJP2 C T exonic synonymous SNV TJP2:NM_001170415:exon19:c.C2727T:p.T909T,TJP2:NM_001170416:exon19:c.C2808T:p.T936T,TJP2:NM_004817:exon19:c.C2715T:p.T905T,TJP2:NM_201629:exon19:c.C2715T:p.T905T,TJP2:NM_001170414:exon20:c.C2646T:p.T882T RS2282336 Gene expression of PELI3 in peripheral blood monocytes:Salmonella-induced pyroptosis
9 71862987 2 TJP2 G A exonic synonymous SNV TJP2:NM_001170415:exon19:c.G2739A:p.A913A,TJP2:NM_001170416:exon19:c.G2820A:p.A940A,TJP2:NM_004817:exon19:c.G2727A:p.A909A,TJP2:NM_201629:exon19:c.G2727A:p.A909A,TJP2:NM_001170414:exon20:c.G2658A:p.A886A RS2095876 Simpson-Angus Scale:HOMA-IR:Fasting insulin:Gene expression of PELI3 in peripheral blood monocytes:Salmonella-induced pyroptosis
9 72897434 2 SMC5 G A exonic nonsynonymous SNV SMC5:NM_015110:exon7:c.G916A:p.V306I RS1180116 Longstanding arthritis:Fasting blood glucose:LDL cholesterol:Asthma:Alzheimer's disease:Urinary albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure (SBP):Years of education:Infant head circumference:Acute lung injury following major trauma:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
9 77563087 2 C9orf40 C T exonic synonymous SNV C9orf40:NM_017998:exon2:c.G462A:p.Q154Q RS2769058 Gene expression of C9orf40 [probe ILMN_30048] in osteoblasts:Rheumatoid arthritis:Body mass index (BMI):Gene expression of C9orf40 [probe ILMN_30048] in osteoblasts treated with BMP2:Gene expression of C9orf40 [probe ILMN_30048] in osteoblasts treated with PGE2:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Tetrology of fallot:Birth weight
9 77684690 2 NMRK1 A C exonic synonymous SNV NMRK1:NM_017881:exon6:c.T357G:p.T119T,NMRK1:NM_001330678:exon7:c.T369G:p.T123T,NMRK1:NM_001330679:exon7:c.T369G:p.T123T RS3752955 Gene expression of C9orf95 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C9orf95 [probe 219147_s_at] in lymphoblastoid cell lines:Gene expression of NRK1_HUMAN in blood cells in Celiac disease:Differential exon level expression of C9orf95 [probe 3210191] in peripheral blood mononuclear cells:Gene expression of C9orf95 [probe 3210179] in peripheral blood mononuclear cells:Gene expression of C9orf95 [probe 3210179] in brain cortex:Differential exon level expression of C9orf95 [probeset 3210195] in peripheral blood mononuclear cells:Differential exon level expression of C9orf95 [probeset 3210195] in brain cortex:Gene expression of C9orf95 in T cells:Gene expression of C9orf95 in Frontal cortex:Gene expression of C9orf95 in Temporal cortex:Gene expression of C9orf95 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Gene expression of C9orf95 in blood:Chronic obstructive pulmonary disease (COPD):Gene expression of C9orf95 [probeset 219147_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:College completion:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of C9orf95 (probeID ILMN_1674650) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C9orf95 (probeID ILMN_1674650) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C9orf95 (probeID ILMN_1674650) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C9orf95 (probeID ILMN_1674650) in cerebellum in non-Alzheimer's disease samples:Gene expression of C9orf95 (probeID ILMN_1674650) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C9orf95 (probeID ILMN_1674650) in cerebellum in Alzheimer's disease cases:Gene expression of C9orf95 (probeID ILMN_1674650) in temporal cortex in Alzheimer's disease cases:Gene expression of C9orf95 (ENSG00000106733) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of C9orf95 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Birth weight
9 78773953 2 PCSK5 G A exonic synonymous SNV PCSK5:NM_001190482:exon12:c.G1485A:p.S495S,PCSK5:NM_006200:exon12:c.G1485A:p.S495S RS2297342 LDL cholesterol:PROP taste detection threshold
9 84267147 2 TLE1 T C exonic synonymous SNV TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E RS2228173 Years of education
9 86495335 1 KIF27 C T exonic synonymous SNV KIF27:NM_001271928:exon11:c.G2520A:p.E840E,KIF27:NM_017576:exon11:c.G2520A:p.E840E
9 86498754 1 KIF27 T C exonic nonsynonymous SNV KIF27:NM_001271927:exon10:c.A2419G:p.M807V,KIF27:NM_001271928:exon10:c.A2419G:p.M807V,KIF27:NM_017576:exon10:c.A2419G:p.M807V
9 86617265 2 RMI1 A G exonic nonsynonymous SNV RMI1:NM_024945:exon3:c.A1364G:p.N455S RS1982151 Hip bone mineral density (BMD):Simpson-Angus Scale:HDL cholesterol:Triglycerides:Height:Waist hip ratio:Gene expression of RMI1 in blood:Gene expression of HNRNPK///hsa-mir-7 in blood:Sporadic Creutzfeldt-Jakob disease:Birth weight:Primary rhegmatogenous retinal detachment
9 88356743 2 AGTPBP1 A G exonic synonymous SNV AGTPBP1:NM_001286715:exon1:c.T135C:p.A45A,AGTPBP1:NM_001286717:exon1:c.T135C:p.A45A
9 88959938 2 ZCCHC6 C T exonic synonymous SNV ZCCHC6:NM_001185059:exon5:c.G951A:p.L317L,ZCCHC6:NM_001185074:exon5:c.G951A:p.L317L,ZCCHC6:NM_024617:exon5:c.G951A:p.L317L RS791323 Asthma:Height
9 95887320 2 NINJ1 G T exonic nonsynonymous SNV NINJ1:NM_004148:exon3:c.C329A:p.A110D RS2275848 Gene expression of C9orf89 in CHB-JPT lymphoblastoid cell lines:Gene expression of NINJ1 probe [GI_31543289-S] in brain cortex with no Alzheimer's interaction:HOMA-IR:Fasting insulin:Gene expression of NINJ1 in blood:Age at death with kuru exposure:Extreme obesity with early age of onset
9 96051521 2 WNK2 A G exonic synonymous SNV WNK2:NM_006648:exon19:c.A4485G:p.Q1495Q,WNK2:NM_001282394:exon20:c.A4596G:p.Q1532Q
9 100672338 2 TRMO C T exonic nonsynonymous SNV TRMO:NM_016481:exon4:c.G970A:p.V324M,TRMO:NM_001330725:exon5:c.G532A:p.V178M RS2282192 Gene expression of Hs.43687 in CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol change with statins:Gene expression of C9orf156 in Temporal cortex:Gene expression of C9orf156 in Frontal cortex:Gene expression of C9orf156 in Cerebellum:Gene expression of C9orf156 in Caudal pons:Autism with high IQ:Triglycerides:Height:Diastolic blood pressure (DBP):Gene expression of C9orf156 (probeID ILMN_1700028) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C9orf156 (probeID ILMN_1700028) in temporal cortex in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2)
9 107515214 2 NIPSNAP3A G A exonic nonsynonymous SNV NIPSNAP3A:NM_001329570:exon3:c.G299A:p.R100Q,NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q RS2274870 LDL cholesterol:HDL cholesterol
9 112899361 2 AKAP2;PALM2-AKAP2 A C exonic nonsynonymous SNV AKAP2:NM_001004065:exon2:c.A1111C:p.K371Q,AKAP2:NM_001136562:exon2:c.A844C:p.K282Q,AKAP2:NM_001198656:exon2:c.A1111C:p.K371Q,PALM2-AKAP2:NM_007203:exon8:c.A1537C:p.K513Q,PALM2-AKAP2:NM_147150:exon8:c.A1537C:p.K513Q
9 114694486 2 UGCG A G exonic synonymous SNV UGCG:NM_003358:exon8:c.A861G:p.T287T RS7850023 HDL cholesterol:Total cholesterol:HDL cholesterol:Height:Mitral annular calcium
9 115567184 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon2:c.T285C:p.V95V RS1891402 Body mass index (BMI):Obesity (body mass index (BMI)):Parkinson's disease
9 115600848 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon6:c.T885C:p.A295A
9 115925104 2 SLC31A2 C T exonic synonymous SNV SLC31A2:NM_001860:exon4:c.C339T:p.A113A RS3810906 Triglycerides:Serum creatinine:Waist hip ratio:Obesity with early age of onset (age >2):Gene expression of SLC31A1 (ENSG00000136868) in dendritic cells
9 115950156 2 FKBP15 G A exonic nonsynonymous SNV FKBP15:NM_015258:exon14:c.C1300T:p.L434F RS10465129 LDL cholesterol change with statins:Total cholesterol change with statins:Total cholesterol:Serum creatinine:Bipolar disorder
9 115950706 2 FKBP15 A C exonic nonsynonymous SNV FKBP15:NM_015258:exon13:c.T1239G:p.H413Q RS10435864 Triglycerides:HDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of FKBP15 [probeset 242574_at] in sputum:Age at death with kuru exposure
9 116931099 2 COL27A1 G A exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.G1264A:p.A422T RS2241671 Tardive dyskinesia:LDL cholesterol:Rheumatoid arthritis:Height:Body mass index (BMI):Primary rhegmatogenous retinal detachment:Parkinson's disease
9 117166246 2 WHRN A G exonic nonsynonymous SNV WHRN:NM_001346890:exon6:c.T1295C:p.V432A,WHRN:NM_001083885:exon10:c.T1199C:p.V400A,WHRN:NM_001173425:exon10:c.T2345C:p.V782A,WHRN:NM_015404:exon10:c.T2348C:p.V783A RS2274159 Differential splicing of AKNA [probeset 3221949] in lymphoblastoid cell lines:Differential exon level expression of AKNA [probe 3221949] in peripheral blood mononuclear cells:Alzheimer's disease:Serum creatinine:HDL cholesterol:Total cholesterol:LDL cholesterol:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab regimen - objective response):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab regimen):Gene expression of ORM2 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Primary rhegmatogenous retinal detachment:Advanced age-related macular degeneration
9 117169033 2 WHRN A G exonic nonsynonymous SNV WHRN:NM_001346890:exon5:c.T785C:p.M262T,WHRN:NM_001083885:exon9:c.T689C:p.M230T,WHRN:NM_001173425:exon9:c.T1838C:p.M613T,WHRN:NM_015404:exon9:c.T1838C:p.M613T RS942519 Differential splicing of AKNA [probeset 3221949] in lymphoblastoid cell lines:Differential exon level expression of AKNA [probe 3221949] in peripheral blood mononuclear cells:Alzheimer's disease:Serum creatinine:HDL cholesterol:Total cholesterol:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab+5-FU/leucovorin+irinotecan regime):Gene expression of ORM2 in blood:Gene expression of AKNA in blood
9 117186677 2 WHRN A G exonic synonymous SNV WHRN:NM_001346890:exon2:c.T300C:p.G100G,WHRN:NM_001083885:exon6:c.T204C:p.G68G,WHRN:NM_001173425:exon6:c.T1353C:p.G451G,WHRN:NM_015404:exon6:c.T1353C:p.G451G RS4979387 Chronic kidney disease:Cystatin C in serum:Serum creatinine:HDL cholesterol:Triglycerides
9 117188566 2 WHRN C T exonic nonsynonymous SNV WHRN:NM_001173425:exon4:c.G1091A:p.R364H,WHRN:NM_015404:exon4:c.G1091A:p.R364H
9 126144746 2 DENND1A T C exonic synonymous SNV DENND1A:NM_020946:exon22:c.A1995G:p.G665G
9 126144758 2 DENND1A T C exonic synonymous SNV DENND1A:NM_020946:exon22:c.A1983G:p.S661S
9 127101924 2 NEK6 C T exonic synonymous SNV NEK6:NM_001166167:exon8:c.C751T:p.L251L,NEK6:NM_001166168:exon8:c.C697T:p.L233L,NEK6:NM_001166169:exon8:c.C772T:p.L258L,NEK6:NM_001166170:exon8:c.C697T:p.L233L,NEK6:NM_014397:exon8:c.C697T:p.L233L,NEK6:NM_001145001:exon9:c.C799T:p.L267L,NEK6:NM_001166171:exon9:c.C799T:p.L267L
9 127661645 2 GOLGA1 G A exonic nonsynonymous SNV GOLGA1:NM_002077:exon14:c.C1274T:p.T425M RS634710 Triglycerides:Schizophrenia:2 hour glucose:Serum creatinine:Gene expression of RABEPK in peripheral blood monocytes:Infant head circumference
9 127674200 2 GOLGA1 A C exonic nonsynonymous SNV GOLGA1:NM_002077:exon11:c.T949G:p.L317V
9 127818276 2 SCAI C T exonic nonsynonymous SNV SCAI:NM_001144877:exon3:c.G109A:p.A37T,SCAI:NM_173690:exon4:c.G178A:p.A60T RS589292 Gene expression of PPP6C [probe 225429_at] in lymphoblastoid cell lines:Gene expression of GAPVD1 in T cells:HDL cholesterol:Serum creatinine:Gene expression of HSPA5///RABEPK in blood:PROP taste detection threshold
9 128074807 2 GAPVD1 T C exonic synonymous SNV GAPVD1:NM_001282681:exon6:c.T1518C:p.I506I,GAPVD1:NM_001330778:exon7:c.T1518C:p.I506I,GAPVD1:NM_015635:exon7:c.T1518C:p.I506I,GAPVD1:NM_001330777:exon8:c.T1518C:p.I506I,GAPVD1:NM_001282679:exon9:c.T1518C:p.I506I,GAPVD1:NM_001282680:exon9:c.T1518C:p.I506I RS432757 Stabilized warfarin dose:Rheumatoid arthritis:Longstanding arthritis:Arthritis including non-Rheumatoid:Simpson-Angus Scale:Alzheimer's disease:Gene expression of HSPA5///RABEPK in blood
9 129595895 2 ZBTB43 T C exonic synonymous SNV ZBTB43:NM_001135776:exon2:c.T1107C:p.T369T,ZBTB43:NM_014007:exon3:c.T1107C:p.T369T RS3118994 Total cholesterol change with statins:Triglycerides change with statins:Advanced age-related macular degeneration
9 130494957 2 TOR2A T C exonic nonsynonymous SNV TOR2A:NM_001252018:exon3:c.A121G:p.K41E,TOR2A:NM_001252021:exon3:c.A121G:p.K41E,TOR2A:NM_001085347:exon4:c.A607G:p.K203E RS538066 HOMA-B:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:Adiponectin levels
9 130565267 2 FPGS A G exonic nonsynonymous SNV FPGS:NM_001288803:exon1:c.A64G:p.I22V,FPGS:NM_004957:exon1:c.A64G:p.I22V
9 130630639 2 AK1 A G exonic synonymous SNV AK1:NM_001318122:exon5:c.T525C:p.P175P,AK1:NM_000476:exon6:c.T477C:p.P159P,AK1:NM_001318121:exon6:c.T477C:p.P159P
9 130698043 2 DPM2 A G exonic synonymous SNV DPM2:NM_003863:exon4:c.T213C:p.Y71Y RS6781 Differential exon level expression of DPM2 [probe 3226241] in brain cortex:Differential exon level expression of DPM2 [probe 3226241] in peripheral blood mononuclear cells:Gene expression of DPM2 [probe 209391_at] in prefrontal cortex:Gene expression of SET [probe 40189_at] in prefrontal cortex:Gene expression of CIZ1 [probe 211358_s_at] in prefrontal cortex:Gene expression of C9orf16 [probe 204480_s_at] in prefrontal cortex:Gene expression of ST6GALNAC4 in peripheral blood monocytes:Sporadic Creutzfeldt-Jakob disease
9 130829039 2 NAIF1 A G exonic synonymous SNV NAIF1:NM_197956:exon1:c.T342C:p.G114G
9 130860866 2 SLC25A25 T C exonic synonymous SNV SLC25A25:NM_052901:exon1:c.T21C:p.Y7Y RS947624 Urinary albumin-to-creatinine ratio
9 130864676 2 SLC25A25 T C exonic synonymous SNV SLC25A25:NM_001006641:exon4:c.T504C:p.I168I,SLC25A25:NM_001006642:exon4:c.T462C:p.I154I,SLC25A25:NM_052901:exon4:c.T402C:p.I134I,SLC25A25:NM_001265614:exon5:c.T498C:p.I166I,SLC25A25:NM_001330988:exon5:c.T540C:p.I180I
9 130883511 2 PTGES2 C T exonic synonymous SNV PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A,PTGES2:NM_198938:exon8:c.G474A:p.A158A
9 131085373 2 COQ4 G C exonic nonsynonymous SNV COQ4:NM_001305942:exon2:c.G149C:p.G50A,COQ4:NM_016035:exon2:c.G149C:p.G50A
9 131346218 2 SPTAN1 A C exonic synonymous SNV SPTAN1:NM_001130438:exon16:c.A2163C:p.A721A,SPTAN1:NM_001195532:exon16:c.A2163C:p.A721A,SPTAN1:NM_003127:exon16:c.A2163C:p.A721A
9 131375701 2 SPTAN1 A G exonic synonymous SNV SPTAN1:NM_001195532:exon38:c.A5010G:p.L1670L,SPTAN1:NM_003127:exon39:c.A5070G:p.L1690L,SPTAN1:NM_001130438:exon40:c.A5085G:p.L1695L
9 131418828 2 WDR34 A C exonic nonsynonymous SNV WDR34:NM_052844:exon1:c.T178G:p.W60G
9 131483749 2 ZDHHC12 T A exonic nonsynonymous SNV ZDHHC12:NM_001318015:exon5:c.A680T:p.Q227L,ZDHHC12:NM_001318020:exon5:c.A493T:p.S165C,ZDHHC12:NM_001318023:exon5:c.A512T:p.Q171L,ZDHHC12:NM_032799:exon5:c.A515T:p.Q172L
9 131580998 2 ENDOG C T exonic nonsynonymous SNV ENDOG:NM_004435:exon1:c.C35T:p.S12L
9 131585069 2 SPOUT1 A G exonic nonsynonymous SNV SPOUT1:NM_016390:exon12:c.T1106C:p.I369T RS2280843 Gene expression of ST6GALNAC4 in T cells:Triglycerides:Gene expression of ENDOG in CD4+ lymphocytes:Gene expression of C9orf114///ENDOG in blood:Gene expression of ENDOG in blood:Gene expression of CCBL1 in blood:Gene expression of C9orf114 [probeset 222674_at] in sputum:Gene expression of ENDOG in liver:Gene expression of ENDOG (probeID ILMN_1722309) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:Gene expression of PKN3 in normal prepouch ileum:Transmission distortion:Gene expression of ENDOG (probeID ILMN_1722309) in cerebellum in Alzheimer's disease cases and controls
9 131670919 2 LRRC8A T C exonic synonymous SNV LRRC8A:NM_001127245:exon2:c.T1476C:p.R492R,LRRC8A:NM_001127244:exon3:c.T1476C:p.R492R,LRRC8A:NM_019594:exon3:c.T1476C:p.R492R RS3750319 Age at death with kuru exposure:Transmission distortion:Maternal transmission distortion:Gene expression of CCBL1 (ENSG00000171097) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
9 131860901 2 CRAT G T exonic nonsynonymous SNV CRAT:NM_000755:exon9:c.C1114A:p.L372M,CRAT:NM_001346547:exon9:c.C1114A:p.L372M,CRAT:NM_001346549:exon9:c.C994A:p.L332M,CRAT:NM_001257363:exon10:c.C1051A:p.L351M,CRAT:NM_001346546:exon10:c.C1117A:p.L373M,CRAT:NM_001346548:exon10:c.C1051A:p.L351M,CRAT:NM_004003:exon10:c.C1051A:p.L351M
9 132623293 2 USP20 C T exonic synonymous SNV USP20:NM_001008563:exon7:c.C408T:p.D136D,USP20:NM_001110303:exon7:c.C408T:p.D136D,USP20:NM_006676:exon7:c.C408T:p.D136D RS1503375 Bipolar disorder:College completion
9 132623868 2 USP20 T C exonic synonymous SNV USP20:NM_001008563:exon8:c.T474C:p.A158A,USP20:NM_001110303:exon8:c.T474C:p.A158A,USP20:NM_006676:exon8:c.T474C:p.A158A RS10115249 Serum creatinine:Bipolar disorder:College completion:Birth weight
9 132631680 2 USP20 T C exonic synonymous SNV USP20:NM_001008563:exon13:c.T1368C:p.L456L,USP20:NM_001110303:exon13:c.T1368C:p.L456L,USP20:NM_006676:exon13:c.T1368C:p.L456L RS6478920 Serum creatinine:Bipolar disorder:Birth weight:College completion
9 132686186 2 FNBP1 A G exonic synonymous SNV FNBP1:NM_015033:exon10:c.T1107C:p.H369H
9 134136515 2 FAM78A A G exonic synonymous SNV FAM78A:NM_033387:exon2:c.T546C:p.N182N
9 134346315 2 PRRC2B T C exonic synonymous SNV PRRC2B:NM_013318:exon13:c.T2052C:p.R684R RS4310250 HDL cholesterol:LDL cholesterol:HDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134350323 2 PRRC2B C G exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2807G:p.T936S
9 134350458 2 PRRC2B C T exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2942T:p.P981L RS10751478 Body mass index (BMI)
9 134350647 2 PRRC2B T C exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T
9 134351065 2 PRRC2B G T exonic synonymous SNV PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G RS7858488 HDL cholesterol:LDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134385436 2 POMT1 A G exonic nonsynonymous SNV POMT1:NM_007171:exon8:c.A752G:p.Q251R RS2296949 Spine bone mineral density (BMD):Differential exon level expression of POMT1 [probe 3192197] in brain cortex:Differential exon level expression of UCK1 [probe 3227651] in brain cortex:HOMA-IR:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Breast cancer:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in non-Alzheimer's disease samples:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases:Years of education:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases
9 134386744 2 POMT1 T C exonic synonymous SNV POMT1:NM_001136114:exon8:c.T525C:p.T175T,POMT1:NM_001077366:exon9:c.T714C:p.T238T,POMT1:NM_001077365:exon10:c.T876C:p.T292T,POMT1:NM_001136113:exon10:c.T876C:p.T292T,POMT1:NM_007171:exon10:c.T942C:p.T314T RS10901065 HDL cholesterol:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels
9 134387488 2 POMT1 T C exonic synonymous SNV POMT1:NM_001136114:exon9:c.T696C:p.D232D,POMT1:NM_001077366:exon10:c.T885C:p.D295D,POMT1:NM_001077365:exon11:c.T1047C:p.D349D,POMT1:NM_001136113:exon11:c.T1047C:p.D349D,POMT1:NM_007171:exon11:c.T1113C:p.D371D RS3739494 Differential exon level expression of POMT1 [probe 3192197] in brain cortex:Differential exon level expression of UCK1 [probe 3227651] in brain cortex:HOMA-IR:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Years of education:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels
9 135139901 2 SETX T C exonic nonsynonymous SNV SETX:NM_001351527:exon26:c.A7759G:p.I2587V,SETX:NM_015046:exon26:c.A7759G:p.I2587V,SETX:NM_001351528:exon27:c.A7846G:p.I2616V RS1056899 Irritible bowel syndrome:Longstanding arthritis:Triglycerides:Schizophrenia:Chronic kidney disease:Serum creatinine:Triglycerides:Sporadic Creutzfeldt-Jakob disease:Maternal transmission distortion:Transmission distortion
9 135172412 2 SETX A G exonic synonymous SNV SETX:NM_001351527:exon14:c.T5811C:p.D1937D,SETX:NM_001351528:exon14:c.T5811C:p.D1937D,SETX:NM_015046:exon14:c.T5811C:p.D1937D RS2296869 Irritible bowel syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Paternal transmission distortion:Advanced age-related macular degeneration
9 135263573 2 TTF1 G T exonic synonymous SNV TTF1:NM_001205296:exon7:c.C720A:p.I240I,TTF1:NM_007344:exon8:c.C2265A:p.I755I RS556386 Tardive dyskinesia
9 135470414 2 DDX31 T C exonic nonsynonymous SNV DDX31:NM_001322340:exon18:c.A2176G:p.I726V,DDX31:NM_001322342:exon20:c.A1864G:p.I622V,DDX31:NM_001322343:exon20:c.A2008G:p.I670V,DDX31:NM_022779:exon20:c.A2395G:p.I799V,DDX31:NM_001322341:exon21:c.A2107G:p.I703V RS306547 Barnes Akathisia Rating Scale:Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):2 hour glucose:HOMA-IR:Fasting blood glucose:Fasting insulin:Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (females):Total cholesterol:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Aortic valve calcium:Gene expression of C9orf171 in normal prepouch ileum
9 136199466 2 SURF6 G A exonic nonsynonymous SNV SURF6:NM_001278942:exon4:c.C523T:p.R175W,SURF6:NM_006753:exon4:c.C524T:p.T175M RS886089 Parkinson's disease (PD):Gene expression of SURF1 in CHB lymphoblastoid cell lines
9 136199503 2 SURF6 G A exonic nonsynonymous SNV SURF6:NM_006753:exon4:c.C487T:p.R163W RS886090 Parkinson's disease (PD):Gene expression of SURF1 in CHB lymphoblastoid cell lines:Gene expression of Hs.495422 in CEU lymphoblastoid cell lines:Gene expression of SURF6 in liver:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour glucose:Gene expression of SURF6 in Caudal pons:Gene expression of SURF6 in Cerebellum:Gene expression of SURF1 in Caudal pons:Gene expression of SURF6 in Frontal cortex:Triglycerides:HDL cholesterol:Gene expression of SURF6 in CD4+ lymphocytes:Gene expression of SURF6 [probe ILMN_29359] in untreated osteoblasts:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with BMP2:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with dexamethasone:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with PGE2:Gene expression of SURF1 in blood:Gene expression of [probe 4860689 centered at chr9:135198369] in blood:Gene expression of SURF6 in blood:Gene expression of MED22 in blood:Gene expression of SURF1 in normal prepouch ileum:Obesity with early age of onset (age >2):Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SURF6 in normal prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Alzheimer's disease cases and controls
9 136328657 2 CACFD1 T C exonic synonymous SNV CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I RS3124765 Alkaline phosphatase (ALP):Childhood acute lymphoblastic leukemia:Lp-PLA2 activity:Lp-PLA2 mass:Gene expression of SURF6 in peripheral blood monocytes:Gene expression of MED22 in peripheral blood monocytes:Gene expression of SURF1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Height:Coronary artery disease (CAD):Activated partial thromboplastin time:Venous thromboembolism:Mitral annular calcium
9 136536793 2 SARDH C G exonic synonymous SNV SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V RS2519123 LDL cholesterol change with statins:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
9 138379002 2 PPP1R26 T G exonic synonymous SNV PPP1R26:NM_014811:exon4:c.T2646G:p.P882P
9 138838140 2 UBAC1 T C exonic synonymous SNV UBAC1:NM_016172:exon5:c.A519G:p.A173A
9 139391636 2 NOTCH1 G A exonic synonymous SNV NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D RS2229974 Height
9 139418260 2 NOTCH1 A G exonic synonymous SNV NOTCH1:NM_017617:exon3:c.T312C:p.N104N RS4489420 HDL cholesterol:Total cholesterol change with statins
9 139616742 2 FAM69B A G exonic nonsynonymous SNV FAM69B:NM_152421:exon4:c.A472G:p.S158G RS945384 Type 2 diabetes:Triglycerides:Type 2 diabetes:Alzheimer's disease:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Mitral annular calcium
9 139700605 2 CCDC183 T C exonic nonsynonymous SNV CCDC183:NM_001039374:exon10:c.T1024C:p.W342R RS2811795 Irritible bowel syndrome:Gene expression of FAM69B [probe 3194567] in brain cortex:Differential exon level expression of FAM69B [probe 3194577] in brain cortex:Gene expression of LCN8 in blood:Gene expression of PHPT1 in blood:Sporadic Creutzfeldt-Jakob disease:Infant head circumference:Parkinson's disease
9 139726239 2 RABL6 A G exonic synonymous SNV RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G
9 139912484 2 ABCA2 A G exonic synonymous SNV ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D
9 139913239 2 ABCA2 T G exonic nonsynonymous SNV ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P
9 139981627 2 MAN1B1 A G exonic nonsynonymous SNV MAN1B1:NM_016219:exon1:c.A176G:p.N59S
9 140247143 2 EXD3 T G exonic nonsynonymous SNV EXD3:NM_017820:exon11:c.A966C:p.E322D
10 294953 2 ZMYND11 A G exonic synonymous SNV ZMYND11:NM_001202465:exon12:c.A1356G:p.E452E,ZMYND11:NM_001202467:exon12:c.A1449G:p.E483E,ZMYND11:NM_001202464:exon13:c.A1449G:p.E483E,ZMYND11:NM_001202466:exon13:c.A1446G:p.E482E,ZMYND11:NM_001202468:exon13:c.A1611G:p.E537E,ZMYND11:NM_006624:exon14:c.A1611G:p.E537E,ZMYND11:NM_212479:exon14:c.A1608G:p.E536E,ZMYND11:NM_001330057:exon15:c.A1560G:p.E520E RS1017361 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Comorbid depressive syndrome and alcohol dependence:Parkinson's disease:Infant head circumference:Adiponectin levels
10 429977 2 DIP2C G A exonic synonymous SNV DIP2C:NM_014974:exon16:c.C1866T:p.G622G RS10904083 HDL cholesterol:Sporadic Creutzfeldt-Jakob disease
10 459940 2 DIP2C G A exonic synonymous SNV DIP2C:NM_014974:exon8:c.C970T:p.L324L
10 1046712 2 GTPBP4 G A exonic synonymous SNV GTPBP4:NM_012341:exon7:c.G750A:p.A250A RS2306409 Gene expression of IDI2 [probe 228002_at] in lymphoblastoid cell lines:Total cholesterol change with statins:Gene expression of IDI2 [transcript NM_033261, probe A_32_P115947] in liver:Gene expression of GTPBP4 in blood
10 5136651 2 AKR1C3 C G exonic nonsynonymous SNV AKR1C3:NM_001253909:exon1:c.C15G:p.H5Q,AKR1C3:NM_003739:exon1:c.C15G:p.H5Q RS12529 Simpson-Angus Scale:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Triglycerides:Years of education:College completion
10 5139685 2 AKR1C3 G A exonic synonymous SNV AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K RS12387 Triglycerides:Total cholesterol:Total cholesterol:LDL cholesterol:Triglycerides:Height:Susceptibility to cytomegalovirus infection:Obesity with early age of onset (age >2):Birth weight:College completion
10 5495218 2 NET1 T C exonic synonymous SNV NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y RS4567355 Abnormal Involuntary Movement Scale
10 5790420 2 FAM208B T C exonic nonsynonymous SNV FAM208B:NM_001321785:exon15:c.T4793C:p.V1598A,FAM208B:NM_017782:exon15:c.T5036C:p.V1679A,FAM208B:NM_001321783:exon16:c.T5036C:p.V1679A,FAM208B:NM_001321784:exon16:c.T5036C:p.V1679A
10 5920121 2 ANKRD16 T C exonic nonsynonymous SNV ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R RS1052420 LDL cholesterol:Schizophrenia:HDL cholesterol:LDL cholesterol:Lp-PLA2 activity:Microalbuminuria:Gene expression of FBXO18 in blood:Gene expression of ANKRD16 (probeID ILMN_1659156) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ANKRD16 (probeID ILMN_1659156) in temporal cortex in Alzheimer's disease cases and controls
10 5925971 2 ANKRD16 C A exonic synonymous SNV ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_019046:exon4:c.G648T:p.G216G
10 7763661 2 ITIH2 A G exonic nonsynonymous SNV ITIH2:NM_002216:exon8:c.A788G:p.N263S
10 8006798 2 TAF3 A G exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.A1325G:p.N442S RS4747647 Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Neuroblastoma (brain cancer):Birth weight
10 8007559 2 TAF3 G C exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.G2086C:p.V696L RS10795583 Cystatin C in serum:Rheumatoid arthritis:Birth weight
10 8007560 2 TAF3 T C exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.T2087C:p.V696A RS1244229 Eye color:Rheumatoid arthritis:Urinary albumin-to-creatinine ratio
10 11789382 2 ECHDC3 G A exonic nonsynonymous SNV ECHDC3:NM_024693:exon2:c.G205A:p.A69T
10 11789405 2 ECHDC3 G A exonic synonymous SNV ECHDC3:NM_024693:exon2:c.G228A:p.K76K
10 11797436 2 ECHDC3 T C exonic synonymous SNV ECHDC3:NM_024693:exon4:c.T420C:p.V140V
10 11797467 2 ECHDC3 G A exonic nonsynonymous SNV ECHDC3:NM_024693:exon4:c.G451A:p.A151T
10 12111090 2 DHTKD1 T C exonic nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L
10 12148259 2 DHTKD1 A C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P
10 12148286 2 DHTKD1 T C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F
10 12149939 2 DHTKD1 C T exonic synonymous SNV DHTKD1:NM_018706:exon12:c.C2079T:p.I693I RS1722462 LDL cholesterol:Total cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education
10 13166076 2 OPTN A G exonic nonsynonymous SNV OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E
10 13337588 2 PHYH G A exonic synonymous SNV PHYH:NM_001323082:exon3:c.C153T:p.N51N,PHYH:NM_001323083:exon3:c.C153T:p.N51N,PHYH:NM_006214:exon3:c.C153T:p.N51N
10 13375906 2 SEPHS1 T C exonic synonymous SNV SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T RS10752297 LDL cholesterol:Triglycerides:LDL cholesterol:IGP72:IGP64:IGP70:Gene expression of PHYH (probeID ILMN_2282352) in temporal cortex in Alzheimer's disease cases and controls:IGP71:IGP68:IGP66:Gene expression of PHYH (probeID ILMN_2282352) in cerebellum in Alzheimer's disease cases and controls:IGP49
10 13494594 2 BEND7 T C exonic synonymous SNV BEND7:NM_001100912:exon6:c.A1011G:p.V337V,BEND7:NM_152751:exon7:c.A972G:p.V324V RS2277222 HDL cholesterol:Triglycerides:Diastolic blood pressure (DBP):Salmonella-induced pyroptosis:Hypertension (early onset hypertension):Tuberculosis with early age of onset
10 16547058 2 PTER A G exonic synonymous SNV PTER:NM_001261838:exon3:c.A291G:p.Q97Q,PTER:NM_001261836:exon4:c.A738G:p.Q246Q,PTER:NM_001001484:exon5:c.A738G:p.Q246Q,PTER:NM_030664:exon5:c.A738G:p.Q246Q RS7904014 HDL cholesterol:Childhood acute lymphoblastic leukemia:Waist hip ratio:Diastolic blood pressure (DBP):Gene expression of PTER in normal prepouch ileum
10 17659131 2 HACD1 C A exonic nonsynonymous SNV HACD1:NM_014241:exon1:c.G208T:p.V70F
10 17659149 2 HACD1 C T exonic nonsynonymous SNV HACD1:NM_014241:exon1:c.G190A:p.E64K
10 18342034 2
10 22839628 2 PIP4K2A T C exonic nonsynonymous SNV PIP4K2A:NM_001330062:exon7:c.A575G:p.N192S,PIP4K2A:NM_005028:exon7:c.A752G:p.N251S RS2230469 Differential splicing of LOC643475 [probeset 3281092] in lymphoblastoid cell lines:Differential splicing of PIP5K2A [probeset 3281092] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of PIP5K2A in peripheral blood monocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
10 27389197 2 ANKRD26 T C exonic nonsynonymous SNV ANKRD26:NM_001256053:exon1:c.A59G:p.Q20R,ANKRD26:NM_014915:exon1:c.A59G:p.Q20R
10 33209266 2 ITGB1 G T exonic synonymous SNV ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G RS2230396 Salmonella-induced pyroptosis:Gene expression of C10orf68 in normal prepouch ileum
10 33510663 1 NRP1 G A exonic synonymous SNV NRP1:NM_001024628:exon8:c.C1266T:p.Y422Y,NRP1:NM_001024629:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244972:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244973:exon8:c.C1266T:p.Y422Y,NRP1:NM_001330068:exon8:c.C1266T:p.Y422Y,NRP1:NM_003873:exon8:c.C1266T:p.Y422Y RS2229935 Body mass index (BMI):Diastolic blood pressure (DBP):Birth weight:Adiponectin levels:Coronary artery disease (CAD)
10 33552696 2 NRP1 A G exonic nonsynonymous SNV NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A
10 34688287 2 PARD3 G A exonic synonymous SNV PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H
10 43089965 2 ZNF33B G A exonic nonsynonymous SNV ZNF33B:NM_001305033:exon4:c.C454T:p.R152C,ZNF33B:NM_001305036:exon5:c.C97T:p.R33C,ZNF33B:NM_001305037:exon5:c.C97T:p.R33C,ZNF33B:NM_001305038:exon5:c.C97T:p.R33C,ZNF33B:NM_006955:exon5:c.C433T:p.R145C,ZNF33B:NM_001305035:exon6:c.C97T:p.R33C,ZNF33B:NM_001305039:exon6:c.C97T:p.R33C,ZNF33B:NM_001305040:exon7:c.C97T:p.R33C RS210280 Gene expression of ZNF11B in CEU-CHB-JPT lymphoblastoid cell lines:Differential exon level expression of ZNF33B [probe 3285993] in peripheral blood mononuclear cells:Differential exon level expression of ZNF33B [probe 3285993] in brain cortex:Microalbuminuria:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of ZNF33B in blood
10 43281089 2 BMS1 T C exonic synonymous SNV BMS1:NM_014753:exon3:c.T336C:p.T112T
10 43312807 1 BMS1 C T exonic synonymous SNV BMS1:NM_014753:exon15:c.C2445T:p.P815P
10 43315762 1 BMS1 C T exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.C2659T:p.R887C
10 43315765 1 BMS1 A G exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.A2662G:p.I888V
10 43315814 1 BMS1 A G exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.A2711G:p.H904R
10 43315848 1 BMS1 T C exonic synonymous SNV BMS1:NM_014753:exon16:c.T2745C:p.S915S
10 43326535 1 BMS1 A G exonic synonymous SNV BMS1:NM_014753:exon23:c.A3840G:p.Q1280Q
10 43326538 1 BMS1 G T exonic nonsynonymous SNV BMS1:NM_014753:exon23:c.G3843T:p.L1281F
10 46962063 1 SYT15 G A exonic synonymous SNV SYT15:NM_031912:exon8:c.C1173T:p.R391R
10 50960209 2 OGDHL G A exonic synonymous SNV OGDHL:NM_001143996:exon4:c.C393T:p.L131L,OGDHL:NM_001347820:exon4:c.C393T:p.L131L,OGDHL:NM_001347819:exon5:c.C564T:p.L188L,OGDHL:NM_001347823:exon5:c.C564T:p.L188L,OGDHL:NM_001347824:exon5:c.C564T:p.L188L,OGDHL:NM_018245:exon5:c.C564T:p.L188L RS1258184 Total cholesterol:HDL cholesterol:Serum creatinine:Cystatin C in serum:HDL cholesterol:Birth weight:Obesity with early age of onset (age >2)
10 51361785 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon3:c.A1073G:p.Q358R,PARG:NM_001303486:exon4:c.A1151G:p.Q384R,PARG:NM_001324381:exon4:c.A1151G:p.Q384R,PARG:NM_003631:exon4:c.A1397G:p.Q466R
10 51361850 1 PARG C T exonic synonymous SNV PARG:NM_001303487:exon3:c.G1008A:p.P336P,PARG:NM_001303486:exon4:c.G1086A:p.P362P,PARG:NM_001324381:exon4:c.G1086A:p.P362P,PARG:NM_003631:exon4:c.G1332A:p.P444P
10 51362945 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.A803G:p.H268R,PARG:NM_001303486:exon3:c.A881G:p.H294R,PARG:NM_001324381:exon3:c.A881G:p.H294R,PARG:NM_003631:exon3:c.A1127G:p.H376R
10 51363013 2 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C735T:p.F245F,PARG:NM_001303486:exon3:c.C813T:p.F271F,PARG:NM_001324381:exon3:c.C813T:p.F271F,PARG:NM_003631:exon3:c.C1059T:p.F353F
10 51363227 2 PARG A G exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.T521C:p.I174T,PARG:NM_001303486:exon3:c.T599C:p.I200T,PARG:NM_001324381:exon3:c.T599C:p.I200T,PARG:NM_003631:exon3:c.T845C:p.I282T
10 51363294 2 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E
10 51363304 2 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C444T:p.D148D,PARG:NM_001303486:exon3:c.C522T:p.D174D,PARG:NM_001324381:exon3:c.C522T:p.D174D,PARG:NM_003631:exon3:c.C768T:p.D256D
10 51363348 2 PARG G C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.C400G:p.H134D,PARG:NM_001303486:exon3:c.C478G:p.H160D,PARG:NM_001324381:exon3:c.C478G:p.H160D,PARG:NM_003631:exon3:c.C724G:p.H242D
10 51363391 1 PARG G C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.C357G:p.H119Q,PARG:NM_001303486:exon3:c.C435G:p.H145Q,PARG:NM_001324381:exon3:c.C435G:p.H145Q,PARG:NM_003631:exon3:c.C681G:p.H227Q
10 51363403 1 PARG C T exonic synonymous SNV PARG:NM_001303487:exon2:c.G345A:p.T115T,PARG:NM_001303486:exon3:c.G423A:p.T141T,PARG:NM_001324381:exon3:c.G423A:p.T141T,PARG:NM_003631:exon3:c.G669A:p.T223T
10 51363729 1 PARG C T exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.G19A:p.E7K,PARG:NM_001303486:exon3:c.G97A:p.E33K,PARG:NM_001324381:exon3:c.G97A:p.E33K,PARG:NM_003631:exon3:c.G343A:p.E115K
10 51363758 1 PARG A C exonic nonsynonymous SNV PARG:NM_001303486:exon3:c.T68G:p.I23R,PARG:NM_001324381:exon3:c.T68G:p.I23R,PARG:NM_003631:exon3:c.T314G:p.I105R
10 51370975 2 PARG C G exonic nonsynonymous SNV PARG:NM_001303489:exon1:c.G92C:p.R31P
10 51612975 1 TIMM23 A C exonic synonymous SNV TIMM23:NM_006327:exon4:c.T273G:p.G91G
10 51613231 1 TIMM23 T C exonic synonymous SNV TIMM23:NM_006327:exon3:c.A246G:p.G82G
10 58118630 2 ZWINT T C exonic nonsynonymous SNV ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G RS2241666 Infant head circumference:Parkinson's disease
10 60577393 2 BICC1 T C exonic synonymous SNV BICC1:NM_001080512:exon19:c.T2605C:p.L869L RS4344442 LDL cholesterol change with statins:Total cholesterol change with statins:Chronic kidney disease:Salmonella-induced pyroptosis:Adiponectin levels
10 60588553 2 BICC1 T C exonic nonsynonymous SNV BICC1:NM_001080512:exon21:c.T2827C:p.S943P RS4948550 Allergic rhinitis:Atopy:Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy)
10 63995983 2 RTKN2 C T exonic synonymous SNV RTKN2:NM_145307:exon6:c.G528A:p.V176V RS3852448 LDL cholesterol
10 64967445 2 JMJD1C A T exonic synonymous SNV JMJD1C:NM_001322254:exon8:c.T3327A:p.R1109R,JMJD1C:NM_001282948:exon9:c.T3438A:p.R1146R,JMJD1C:NM_001318153:exon9:c.T3120A:p.R1040R,JMJD1C:NM_001322252:exon9:c.T3870A:p.R1290R,JMJD1C:NM_001322258:exon9:c.T3327A:p.R1109R,JMJD1C:NM_001318154:exon10:c.T3438A:p.R1146R,JMJD1C:NM_032776:exon10:c.T3984A:p.R1328R
10 69773841 2 HERC4 G A exonic synonymous SNV HERC4:NM_001278186:exon7:c.C246T:p.S82S,HERC4:NM_001278185:exon9:c.C1011T:p.S337S,HERC4:NM_015601:exon9:c.C1011T:p.S337S,HERC4:NM_022079:exon9:c.C1011T:p.S337S RS866255 HOMA-B:HOMA-IR:Fasting insulin:Celiac disease:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Variant Creutzfeldt-Jakob disease:Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment
10 70696713 2 DDX50 C T exonic synonymous SNV DDX50:NM_024045:exon12:c.C1617T:p.Y539Y RS5030895 Aortic valve calcium
10 71876382 2 AIFM2 C T exonic synonymous SNV AIFM2:NM_001198696:exon7:c.G765A:p.A255A,AIFM2:NM_032797:exon7:c.G765A:p.A255A RS2394656 Type 2 diabetes
10 72619205 2 SGPL1 C T exonic synonymous SNV SGPL1:NM_003901:exon7:c.C564T:p.I188I
10 74894375 2 ECD T C exonic nonsynonymous SNV ECD:NM_001135753:exon13:c.A1772G:p.D591G,ECD:NM_007265:exon14:c.A1901G:p.D634G,ECD:NM_001135752:exon15:c.A2000G:p.D667G RS2271904 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe 214136_at] in lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Schizophrenia:Gene expression of NUDT13 in peripheral blood monocytes:Gene expression of MRPS16 in peripheral blood monocytes:Triglycerides:Asthma:Gene expression of DNAJC9///MRPS16 in blood:Gene expression of RP11-152N13.3 in blood:Gene expression of NUDT13 [probeset 214136_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Birth weight:Gene expression of ECD in normal prepouch ileum:Mitral annular calcium:Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and controls
10 74896664 2 ECD T C exonic nonsynonymous SNV ECD:NM_001135753:exon12:c.A1373G:p.N458S,ECD:NM_007265:exon13:c.A1502G:p.N501S,ECD:NM_001135752:exon14:c.A1601G:p.N534S
10 74897816 2 ECD C T exonic synonymous SNV ECD:NM_001135753:exon11:c.G1305A:p.E435E,ECD:NM_007265:exon12:c.G1434A:p.E478E,ECD:NM_001135752:exon13:c.G1533A:p.E511E RS2271905 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe 214136_at] in lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Birth weight:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ECD in normal prepouch ileum:Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and controls
10 74899111 2 ECD A G exonic synonymous SNV ECD:NM_001135753:exon10:c.T1248C:p.A416A,ECD:NM_007265:exon11:c.T1377C:p.A459A,ECD:NM_001135752:exon12:c.T1476C:p.A492A
10 74899134 2 ECD C G exonic nonsynonymous SNV ECD:NM_001135753:exon10:c.G1225C:p.E409Q,ECD:NM_007265:exon11:c.G1354C:p.E452Q,ECD:NM_001135752:exon12:c.G1453C:p.E485Q RS3736518 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe 214136_at] in lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Triglycerides:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases and controls
10 74916173 2 ECD T A exonic synonymous SNV ECD:NM_001135752:exon5:c.A450T:p.A150A,ECD:NM_001135753:exon5:c.A450T:p.A150A,ECD:NM_007265:exon5:c.A450T:p.A150A RS12241093 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Triglycerides:Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and controls
10 74923562 2 ECD C T exonic nonsynonymous SNV ECD:NM_001135752:exon2:c.G134A:p.R45Q,ECD:NM_001135753:exon2:c.G134A:p.R45Q,ECD:NM_007265:exon2:c.G134A:p.R45Q RS3812619 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe 214136_at] in lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Triglycerides:Asthma:Gene expression of RP11-152N13.3 in blood:Gene expression of DNAJC9///MRPS16 in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression of ECD in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NUDT13 (probeID ILMN_1680420) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NUDT13 (probeID ILMN_1680420) in temporal cortex in Alzheimer's disease cases and controls
10 75000739 2 FAM149B1 G A exonic nonsynonymous SNV FAM149B1:NM_173348:exon14:c.G1711A:p.G571R RS12573841 Gene expression of NUDT13 in CEU-CHB-JPT lymphoblastoid cell lines:Triglycerides:LDL cholesterol:Asthma:Gene expression of RP11-152N13.3 in blood:Gene expression of DNAJC9///MRPS16 in blood:Gene expression of ECD in normal prepouch ileum:Birth weight:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium
10 75006804 2 DNAJC9 A G exonic synonymous SNV DNAJC9:NM_015190:exon1:c.T144C:p.G48G
10 75148116 2 ANXA7 A G exonic synonymous SNV ANXA7:NM_001320879:exon5:c.T372C:p.D124D,ANXA7:NM_001156:exon6:c.T492C:p.D164D,ANXA7:NM_001320880:exon6:c.T438C:p.D146D,ANXA7:NM_004034:exon7:c.T558C:p.D186D RS2234965 Gene expression of NUDT13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NUDT13 [probe 214136_at] in lymphoblastoid cell lines:Differential splicing of ECD [probeset 3294253] in lymphoblastoid cell lines:Triglycerides:Triglycerides:LDL cholesterol:Gene expression of ECD in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Birth weight
10 79584178 2 DLG5 G C exonic synonymous SNV DLG5:NM_004747:exon14:c.C2346G:p.R782R RS1248629 Years of education
10 79616605 2 DLG5 T C exonic nonsynonymous SNV DLG5:NM_004747:exon3:c.A419G:p.Q140R RS1248696 Arthritis including non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with statins:Asthma:Late onset Alzheimer's disease
10 81926702 2 ANXA11 G A exonic nonsynonymous SNV ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C RS1049550 Sarcoidosis:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen - disease control response):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen):Mitral annular calcium:Birth weight:Sarcoidosis
10 82034842 2 MAT1A A G exonic synonymous SNV MAT1A:NM_000429:exon7:c.T882C:p.A294A RS10887711 Years of education:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease samples:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:College completion
10 82034854 2 MAT1A T C exonic synonymous SNV MAT1A:NM_000429:exon7:c.A870G:p.V290V RS10788546 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease samples:Advanced age-related macular degeneration:College completion
10 88635779 2 BMPR1A C A exonic nonsynonymous SNV BMPR1A:NM_004329:exon3:c.C4A:p.P2T
10 88993813 2 NUTM2A T A exonic nonsynonymous SNV NUTM2A:NM_001099338:exon7:c.T1985A:p.V662D
10 88993911 1 NUTM2A A G exonic nonsynonymous SNV NUTM2A:NM_001099338:exon7:c.A2083G:p.K695E
10 88994452 1 NUTM2A G A exonic nonsynonymous SNV NUTM2A:NM_001099338:exon7:c.G2624A:p.R875H
10 89623901 2 PTEN G C exonic nonsynonymous SNV PTEN:NM_001304717:exon2:c.G194C:p.C65S
10 91066460 2 IFIT2 T A exonic synonymous SNV IFIT2:NM_001547:exon2:c.T747A:p.V249V RS954439 Type 1 diabetes:Gene expression change of CH25H (ENSG00000138135) in dendritic cells after treatment with Mycobacterium tuberculosis
10 91162497 2 IFIT1 A G exonic synonymous SNV IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K RS303211 Longstanding arthritis:Waist circumference:Body mass index (BMI):Tourette's syndrome:Primary rhegmatogenous retinal detachment
10 91352966 2 PANK1 G A exonic synonymous SNV PANK1:NM_138316:exon4:c.C747T:p.C249C,PANK1:NM_148977:exon5:c.C1599T:p.C533C,PANK1:NM_148978:exon5:c.C924T:p.C308C RS2296616 LDL cholesterol:PROP taste detection threshold:Infant head circumference:Years of education
10 91404448 2 PANK1 C G exonic synonymous SNV PANK1:NM_148977:exon1:c.G612C:p.L204L
10 91470834 2 KIF20B A C exonic synonymous SNV KIF20B:NM_001284259:exon6:c.A607C:p.R203R,KIF20B:NM_016195:exon6:c.A607C:p.R203R RS1048057 HDL cholesterol:2 hour glucose:Total cholesterol:LDL cholesterol:Gene expression of KIF20B in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene expression of KIF20B (ENSG00000138182) in dendritic cells treated with Mycobacterium tuberculosis:Years of education
10 91497631 2 KIF20B T A exonic nonsynonymous SNV KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E RS1062465 Gene expression of MPHOSPH1 in JPT lymphoblastoid cell lines:HDL cholesterol:2 hour glucose:Total cholesterol:LDL cholesterol:Lp-PLA2 mass:Gene expression of MPHOSPH1 in peripheral blood monocytes:Years of education
10 91498127 2 KIF20B T C exonic nonsynonymous SNV KIF20B:NM_001284259:exon20:c.T3529C:p.C1177R,KIF20B:NM_016195:exon20:c.T3409C:p.C1137R RS1886996 LDL cholesterol:HDL cholesterol change with statins:Lp-PLA2 mass:LDL cholesterol:Neuroblastoma (brain cancer):Gene expression of KIF20B in blood:Sporadic Creutzfeldt-Jakob disease:College completion:Salmonella-induced pyroptosis:Advanced age-related macular degeneration
10 91498254 2 KIF20B A G exonic nonsynonymous SNV KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S RS1886997 Gene expression of MPHOSPH1 in JPT lymphoblastoid cell lines:Longstanding arthritis:HDL cholesterol:2 hour glucose:Total cholesterol:LDL cholesterol:Lp-PLA2 mass:Gene expression of KIF20B in CD4+ lymphocytes:Gene expression of KIF20B in blood:Years of education
10 91498318 2 KIF20B A G exonic synonymous SNV KIF20B:NM_001284259:exon20:c.A3720G:p.K1240K,KIF20B:NM_016195:exon20:c.A3600G:p.K1200K
10 91503660 2 KIF20B A G exonic synonymous SNV KIF20B:NM_001284259:exon22:c.A4011G:p.K1337K,KIF20B:NM_016195:exon22:c.A3891G:p.K1297K
10 94695617 2 EXOC6 C T exonic nonsynonymous SNV EXOC6:NM_001319195:exon12:c.C1187T:p.T396I,EXOC6:NM_019053:exon12:c.C1187T:p.T396I,EXOC6:NM_001013848:exon13:c.C1172T:p.T391I,EXOC6:NM_001319194:exon13:c.C1235T:p.T412I RS1326331 Arthritis including non-Rheumatoid:Longstanding arthritis:Premature ovarian failure:Alzheimer's disease:Chronic kidney disease:Cystatin C in serum:Serum creatinine:Waist hip ratio:Gene expression of EXOC6 in blood:Bipolar disorder
10 95072906 2 MYOF T C exonic synonymous SNV MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R RS787666 Bipolar disorder
10 95262981 2 CEP55 A G exonic nonsynonymous SNV CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A
10 96163039 2 TBC1D12 C G exonic synonymous SNV TBC1D12:NM_015188:exon1:c.C669G:p.P223P
10 96313960 2 HELLS A C exonic synonymous SNV HELLS:NM_001289067:exon3:c.A231C:p.I77I,HELLS:NM_001289068:exon3:c.A183C:p.I61I,HELLS:NM_001289069:exon3:c.A231C:p.I77I,HELLS:NM_001289070:exon3:c.A231C:p.I77I,HELLS:NM_001289072:exon3:c.A231C:p.I77I,HELLS:NM_018063:exon3:c.A231C:p.I77I RS11188019 HDL cholesterol change with statins:Total cholesterol:Obesity with early age of onset (age >2):Years of education:High platelet reactivity in patients with type 2 diabetes during acetylsalicylic acid (ASA) treatment (defined as CEPI-CT score of <193 s):Mitral annular calcium
10 97447373 2 TCTN3 A T exonic synonymous SNV TCTN3:NM_015631:exon4:c.T603A:p.T201T
10 97920062 2 ZNF518A G A exonic unknown UNKNOWN RS3814226 HDL cholesterol change with statins:Chronic kidney disease
10 98380277 2 PIK3AP1 C T exonic synonymous SNV PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S RS3748234 Fasting insulin
10 98386558 2 PIK3AP1 G A exonic synonymous SNV PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L
10 99160965 2 RRP12 A G exonic synonymous SNV RRP12:NM_001145114:exon1:c.T24C:p.P8P,RRP12:NM_001284337:exon1:c.T24C:p.P8P,RRP12:NM_015179:exon1:c.T24C:p.P8P
10 99240758 2 MMS19 G C exonic nonsynonymous SNV MMS19:NM_001289403:exon3:c.C203G:p.A68G,MMS19:NM_001330128:exon3:c.C203G:p.A68G,MMS19:NM_001351356:exon3:c.C203G:p.A68G,MMS19:NM_022362:exon3:c.C203G:p.A68G,MMS19:NM_001289405:exon4:c.C203G:p.A68G RS2275586 LDL cholesterol
10 99376092 2 MORN4 T C exonic synonymous SNV MORN4:NM_001098831:exon5:c.A369G:p.R123R,MORN4:NM_178832:exon5:c.A369G:p.R123R RS3814555 Systolic blood pressure (SBP):Gene expression of MORN4 in normal prepouch ileum
10 99400646 2 PI4K2A G A exonic synonymous SNV PI4K2A:NM_018425:exon1:c.G147A:p.P49P
10 99410790 2 PI4K2A T C exonic synonymous SNV PI4K2A:NM_018425:exon2:c.T528C:p.P176P RS7915721 HOMA-B:HOMA-IR:Fasting insulin:Autism:HDL cholesterol:Gene expression of MORN4 in normal prepouch ileum
10 99439541 2 AVPI1 G C exonic nonsynonymous SNV AVPI1:NM_021732:exon2:c.C122G:p.A41G RS2275047 Gene expression of C10orf83 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Chronic kidney disease:Body mass index (BMI):Systolic blood pressure (SBP):College completion
10 99504630 2 ZFYVE27 G T exonic nonsynonymous SNV ZFYVE27:NM_001174121:exon2:c.G119T:p.G40V,ZFYVE27:NM_001002261:exon3:c.G413T:p.G138V,ZFYVE27:NM_001174119:exon3:c.G317T:p.G106V,ZFYVE27:NM_001002262:exon4:c.G413T:p.G138V,ZFYVE27:NM_144588:exon4:c.G413T:p.G138V RS10882993 2 hour glucose
10 99991408 2 R3HCC1L A G exonic nonsynonymous SNV R3HCC1L:NM_001351016:exon3:c.A1925G:p.H642R,R3HCC1L:NM_001256621:exon4:c.A143G:p.H48R,R3HCC1L:NM_001351013:exon4:c.A1925G:p.H642R,R3HCC1L:NM_001256620:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351012:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351017:exon5:c.A1925G:p.H642R,R3HCC1L:NM_014472:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351015:exon6:c.A1925G:p.H642R,R3HCC1L:NM_138469:exon6:c.A1925G:p.H642R,R3HCC1L:NM_001256619:exon7:c.A1967G:p.H656R,R3HCC1L:NM_001351011:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351014:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351010:exon8:c.A1925G:p.H642R
10 101090428 2 CNNM1 T G exonic synonymous SNV CNNM1:NM_001345887:exon1:c.T1284G:p.V428V,CNNM1:NM_001345888:exon1:c.T1284G:p.V428V,CNNM1:NM_001345889:exon1:c.T1284G:p.V428V,CNNM1:NM_020348:exon1:c.T1284G:p.V428V RS2862600 Serum creatinine:Chronic kidney disease:Autism without verbal ability:Comorbid depressive syndrome and alcohol dependence:Years of education
10 101473218 2 COX15 A G exonic nonsynonymous SNV COX15:NM_004376:exon9:c.T1120C:p.F374L RS2231687 Premature ovarian failure:2 hour glucose:LDL cholesterol:Height:Systolic blood pressure (SBP)
10 101544447 2 ABCC2 A T exonic nonsynonymous SNV ABCC2:NM_000392:exon2:c.A116T:p.Y39F
10 104136469 2 GBF1 T C exonic synonymous SNV GBF1:NM_001199378:exon32:c.T4200C:p.I1400I,GBF1:NM_001199379:exon32:c.T4197C:p.I1399I,GBF1:NM_004193:exon32:c.T4197C:p.I1399I
10 104159196 2 NFKB2 A G exonic synonymous SNV NFKB2:NM_001261403:exon12:c.A1269G:p.P423P,NFKB2:NM_001322935:exon12:c.A1143G:p.P381P,NFKB2:NM_001077494:exon13:c.A1269G:p.P423P,NFKB2:NM_001288724:exon13:c.A1269G:p.P423P,NFKB2:NM_001322934:exon13:c.A1269G:p.P423P,NFKB2:NM_002502:exon13:c.A1269G:p.P423P
10 104160434 2 NFKB2 A G exonic synonymous SNV NFKB2:NM_001261403:exon16:c.A1821G:p.A607A,NFKB2:NM_001322935:exon16:c.A1695G:p.A565A,NFKB2:NM_001077494:exon17:c.A1821G:p.A607A,NFKB2:NM_001288724:exon17:c.A1821G:p.A607A,NFKB2:NM_001322934:exon17:c.A1821G:p.A607A,NFKB2:NM_002502:exon17:c.A1821G:p.A607A
10 105361816 2 SH3PXD2A T G exonic synonymous SNV SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I
10 105657316 2 STN1 G C exonic nonsynonymous SNV STN1:NM_024928:exon7:c.C743G:p.S248C RS10786775 Height in controls:HOMA-B:Fasting insulin:HOMA-IR:Leukocyte telomere length:HDL cholesterol:Triglycerides:Height:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Parkinson's disease:College completion:Coronary artery disease (CAD)
10 105657363 2 STN1 C G exonic synonymous SNV STN1:NM_024928:exon7:c.G696C:p.V232V RS11191853 Total cholesterol
10 112266822 2 DUSP5 G A exonic nonsynonymous SNV DUSP5:NM_004419:exon3:c.G658A:p.A220T
10 112266823 2 DUSP5 C T exonic nonsynonymous SNV DUSP5:NM_004419:exon3:c.C659T:p.A220V
10 112361870 2 SMC3 A G exonic synonymous SNV SMC3:NM_005445:exon25:c.A3039G:p.S1013S RS2419565 Urinary albumin-to-creatinine ratio:Microalbuminuria
10 112641053 2 PDCD4 A G exonic nonsynonymous SNV PDCD4:NM_001199492:exon3:c.A64G:p.I22V,PDCD4:NM_014456:exon3:c.A106G:p.I36V,PDCD4:NM_145341:exon4:c.A73G:p.I25V RS7081726 Gene expression of PDCD4 (probeID ILMN_2396272) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PDCD4 (probeID ILMN_2396272) in temporal cortex in Alzheimer's disease cases and controls:Transmission distortion:Adiponectin levels
10 115609915 2 DCLRE1A C G exonic nonsynonymous SNV DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H RS3750898 LDL cholesterol:Triglycerides
10 120933324 2 PRDX3 G A exonic synonymous SNV PRDX3:NM_001302272:exon4:c.C372T:p.D124D,PRDX3:NM_006793:exon4:c.C372T:p.D124D
10 123298158 2 FGFR2 T C exonic synonymous SNV FGFR2:NM_001144916:exon3:c.A351G:p.V117V,FGFR2:NM_001144918:exon4:c.A351G:p.V117V,FGFR2:NM_023029:exon4:c.A429G:p.V143V,FGFR2:NM_001144913:exon5:c.A696G:p.V232V,FGFR2:NM_001144914:exon5:c.A696G:p.V232V,FGFR2:NM_001144915:exon5:c.A429G:p.V143V,FGFR2:NM_001144919:exon5:c.A429G:p.V143V,FGFR2:NM_000141:exon6:c.A696G:p.V232V,FGFR2:NM_001144917:exon6:c.A696G:p.V232V,FGFR2:NM_001320658:exon6:c.A696G:p.V232V,FGFR2:NM_022970:exon6:c.A696G:p.V232V RS1047100 Schizophrenia:Asthma:Maternal transmission distortion:Refractive error:Infant head circumference
10 123549691 2 ATE1 T G exonic synonymous SNV ATE1:NM_001288735:exon9:c.A1083C:p.P361P,ATE1:NM_001288734:exon10:c.A1026C:p.P342P,ATE1:NM_001001976:exon11:c.A1371C:p.P457P,ATE1:NM_001288736:exon11:c.A1350C:p.P450P,ATE1:NM_007041:exon11:c.A1371C:p.P457P
10 123596254 2 ATE1 T C exonic synonymous SNV ATE1:NM_001288735:exon8:c.A948G:p.S316S,ATE1:NM_001288734:exon9:c.A891G:p.S297S,ATE1:NM_001001976:exon10:c.A1236G:p.S412S,ATE1:NM_001288736:exon10:c.A1215G:p.S405S,ATE1:NM_007041:exon10:c.A1236G:p.S412S RS4237536 Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 123673339 2 ATE1 T C exonic synonymous SNV ATE1:NM_001288735:exon2:c.A15G:p.L5L,ATE1:NM_001001976:exon4:c.A303G:p.L101L,ATE1:NM_001288736:exon4:c.A282G:p.L94L,ATE1:NM_007041:exon4:c.A303G:p.L101L RS10749435 Resistance to kuru in aged women despite likely exposure:Aortic valve calcium:Duodenal ulcer:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 124183732 2 PLEKHA1 T C exonic synonymous SNV PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R,PLEKHA1:NM_001330178:exon10:c.T699C:p.R233R RS4405249 LDL cholesterol:Total cholesterol:Serum creatinine:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
10 125804385 2 CHST15 A G exonic synonymous SNV CHST15:NM_001270764:exon3:c.T597C:p.C199C,CHST15:NM_001270765:exon3:c.T597C:p.C199C,CHST15:NM_014863:exon3:c.T597C:p.C199C,CHST15:NM_015892:exon3:c.T597C:p.C199C
10 126172863 2 LHPP A G exonic nonsynonymous SNV LHPP:NM_001167880:exon2:c.A281G:p.Q94R,LHPP:NM_001318331:exon2:c.A281G:p.Q94R,LHPP:NM_001318332:exon2:c.A281G:p.Q94R,LHPP:NM_022126:exon2:c.A281G:p.Q94R RS6597801 Stabilized warfarin dose:Rheumatoid arthritis:Major depressive disorder (broad definition) (males):Waist hip ratio:Gene expression of LHPP in blood:College completion
10 133795391 2 BNIP3 A C exonic nonsynonymous SNV BNIP3:NM_004052:exon1:c.T115G:p.S39A
10 134036193 2 STK32C A G exonic synonymous SNV STK32C:NM_001318878:exon10:c.T1242C:p.R414R,STK32C:NM_001318879:exon10:c.T852C:p.R284R,STK32C:NM_173575:exon10:c.T1203C:p.R401R
10 134161633 2 LRRC27 A G exonic synonymous SNV LRRC27:NM_001309474:exon5:c.A318G:p.P106P,LRRC27:NM_001143757:exon6:c.A699G:p.P233P,LRRC27:NM_001143758:exon6:c.A699G:p.P233P,LRRC27:NM_001143759:exon6:c.A699G:p.P233P,LRRC27:NM_030626:exon6:c.A699G:p.P233P
10 134218269 2 PWWP2B C T exonic nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C265T:p.R89C,PWWP2B:NM_138499:exon2:c.C265T:p.R89C RS11146363 Arthritis including non-Rheumatoid:Triglycerides
10 134218296 2 PWWP2B C G exonic nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C292G:p.R98G,PWWP2B:NM_138499:exon2:c.C292G:p.R98G
10 135097434 2 TUBGCP2 A G exonic synonymous SNV TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F
10 135098672 2 TUBGCP2 G A exonic synonymous SNV TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y RS3008334 Gene expression of TUBGCP2 in peripheral blood monocytes
10 135165790 2 PRAP1 A G exonic nonsynonymous SNV PRAP1:NM_001145201:exon5:c.A275G:p.H92R,PRAP1:NM_145202:exon5:c.A302G:p.H101R
10 135180430 2 ECHS1 A G exonic synonymous SNV ECHS1:NM_004092:exon5:c.T582C:p.T194T
10 135184126 2 ECHS1 G A exonic nonsynonymous SNV ECHS1:NM_004092:exon2:c.C224T:p.T75I RS1049951 LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Hypertension (early onset hypertension):Adiponectin levels:Refractive error:Salmonella-induced pyroptosis
10 135204950 2 PAOX C G exonic nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E RS1046175 Gene expression of PAOX (ENSG00000148832) in dendritic cells treated with Mycobacterium tuberculosis
10 135205009 2 PAOX C G exonic synonymous SNV PAOX:NM_207128:exon6:c.C1428G:p.P476P RS1046178 Triglycerides:HDL cholesterol:Serum creatinine
10 135233541 2 MTG1 A G exonic nonsynonymous SNV MTG1:NM_138384:exon11:c.A877G:p.I293V
10 153219665 2
11 308290 2 IFITM2 T C exonic nonsynonymous SNV IFITM2:NM_006435:exon1:c.T98C:p.V33A RS1058900 HOMA-B:Fasting insulin:Serum creatinine:Infant head circumference
11 308314 2 IFITM2 T C exonic nonsynonymous SNV IFITM2:NM_006435:exon1:c.T122C:p.M41T RS14408 Serum creatinine:HDL cholesterol:Infant head circumference
11 308363 2 IFITM2 G C exonic synonymous SNV IFITM2:NM_006435:exon1:c.G171C:p.V57V
11 314207 2 IFITM1 C G exonic nonsynonymous SNV IFITM1:NM_003641:exon1:c.C37G:p.P13A
11 406043 2 SIGIRR G A exonic synonymous SNV SIGIRR:NM_001135053:exon10:c.C1086T:p.V362V,SIGIRR:NM_001135054:exon10:c.C1086T:p.V362V,SIGIRR:NM_021805:exon10:c.C1086T:p.V362V
11 406473 2 SIGIRR A C exonic synonymous SNV SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P RS3087588 Gene expression of SIGIRR (ENSG00000185187) in dendritic cells treated with Mycobacterium tuberculosis
11 406483 2 SIGIRR T C exonic nonsynonymous SNV SIGIRR:NM_001135053:exon9:c.A935G:p.Q312R,SIGIRR:NM_001135054:exon9:c.A935G:p.Q312R,SIGIRR:NM_021805:exon9:c.A935G:p.Q312R RS3210908 Gene expression of SIGIRR [probe 52940_at] in lymphoblastoid cell lines:HDL cholesterol change with statins:Postoperative nausea and vomiting:Gene expression of SIGIRR in blood:College completion
11 551753 2 LRRC56 G A exonic nonsynonymous SNV LRRC56:NM_198075:exon10:c.G899A:p.R300H
11 554166 2 LRRC56 C G exonic nonsynonymous SNV LRRC56:NM_198075:exon14:c.C1519G:p.R507G RS10902170 Gene expression of RASSF7 (ENSG00000099849) in dendritic cells treated with Mycobacterium tuberculosis
11 556857 2 LMNTD2 G C exonic synonymous SNV LMNTD2:NM_173573:exon8:c.C954G:p.G318G
11 557989 2 LMNTD2 C T exonic synonymous SNV LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q
11 610277 2 PHRF1 T C exonic nonsynonymous SNV PHRF1:NM_001286581:exon15:c.T4346C:p.V1449A,PHRF1:NM_001286582:exon15:c.T4340C:p.V1447A,PHRF1:NM_001286583:exon15:c.T4334C:p.V1445A,PHRF1:NM_020901:exon15:c.T4343C:p.V1448A RS11246212 LDL cholesterol:Urinary albumin-to-creatinine ratio
11 619789 2 CDHR5 T G exonic nonsynonymous SNV CDHR5:NM_001171968:exon10:c.A1071C:p.R357S,CDHR5:NM_021924:exon10:c.A1071C:p.R357S,CDHR5:NM_031264:exon10:c.A1071C:p.R357S RS2246614 HDL cholesterol:Gene expression of IRF7 (probeID ILMN_2349061) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of IRF7 (probeID ILMN_2349061) in cerebellum in non-Alzheimer's disease samples:Gene expression of IRF7 (probeID ILMN_2349061) in temporal cortex in Alzheimer's disease cases:Gene expression of IRF7 (probeID ILMN_2349061) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TMEM80 (probeID ILMN_1689868) in cerebellum in Alzheimer's disease cases and controls:Gene expression of EPS8L2 (ENSG00000177106) in dendritic cells:Gene expression of IRF7 (probeID ILMN_2349061) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IRF7 (probeID ILMN_2349061) in cerebellum in Alzheimer's disease cases:Gene expression of IRF7 (probeID ILMN_2349061) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of TMEM80 (probeID ILMN_1689868) in temporal cortex in Alzheimer's disease cases and controls
11 771034 2 GATD1 A G exonic synonymous SNV GATD1:NM_001318822:exon5:c.T357C:p.T119T,GATD1:NM_001318818:exon6:c.T465C:p.T155T,GATD1:NM_001318820:exon6:c.T507C:p.T169T,GATD1:NM_001318823:exon6:c.T465C:p.T155T,GATD1:NM_001318824:exon6:c.T507C:p.T169T,GATD1:NM_001318821:exon7:c.T615C:p.T205T,GATD1:NM_182612:exon7:c.T615C:p.T205T RS7930569 Alcohol dependence:Gene expression of NS3BP in normal prepouch ileum
11 837582 2 CD151 G A exonic synonymous SNV CD151:NM_001039490:exon6:c.G579A:p.G193G,CD151:NM_139030:exon6:c.G579A:p.G193G,CD151:NM_004357:exon7:c.G579A:p.G193G,CD151:NM_139029:exon7:c.G579A:p.G193G RS1130663 Gene expression of CD151 (ENSG00000177697) in dendritic cells:Gene expression of CD151 in normal prepouch ileum
11 840477 2 POLR2L A G exonic synonymous SNV POLR2L:NM_021128:exon2:c.T99C:p.D33D
11 862652 2 TSPAN4 T C exonic synonymous SNV TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L
11 903070 2 CHID1 G C exonic synonymous SNV CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V
11 1501670 2 MOB2 G C exonic synonymous SNV MOB2:NM_001172223:exon3:c.C318G:p.S106S RS10742185 Obesity with early age of onset (age >2)
11 1502097 2 MOB2 A G exonic synonymous SNV MOB2:NM_001172223:exon2:c.T129C:p.P43P
11 2424684 2 TSSC4 A C exonic nonsynonymous SNV TSSC4:NM_001297659:exon3:c.A821C:p.H274P,TSSC4:NM_005706:exon3:c.A821C:p.H274P,TSSC4:NM_001297658:exon4:c.A821C:p.H274P,TSSC4:NM_001297660:exon4:c.A821C:p.H274P,TSSC4:NM_001297661:exon4:c.A629C:p.H210P
11 5625847 2 TRIM6;TRIM6-TRIM34 A G exonic synonymous SNV TRIM6:NM_001003818:exon3:c.A591G:p.K197K,TRIM6-TRIM34:NM_001003819:exon3:c.A591G:p.K197K,TRIM6:NM_058166:exon3:c.A507G:p.K169K RS3751006 Gene expression of TRIM34 [probe 3318390] in peripheral blood mononuclear cells:HDL cholesterol:Cystatin C in serum:Height:Gene expression of TRIM34 [transcript NM_021616, probe A_23_P124190] in liver:Gene expression of AC087380.13///HBG2 in blood:Gene expression of PSCDBP (probeID ILMN_2092041) in breast tumors:Maternal transmission distortion
11 5632212 2 TRIM6 G A exonic synonymous SNV TRIM6:NM_001198645:exon6:c.G582A:p.L194L,TRIM6:NM_001198644:exon7:c.G582A:p.L194L,TRIM6:NM_001003818:exon8:c.G1191A:p.L397L,TRIM6:NM_058166:exon8:c.G1107A:p.L369L
11 5700340 2 TRIM5 T C exonic synonymous SNV TRIM5:NM_033034:exon3:c.A477G:p.L159L,TRIM5:NM_033092:exon3:c.A477G:p.L159L,TRIM5:NM_033093:exon3:c.A477G:p.L159L RS3740995 Total cholesterol:Triglycerides:Parkinson's disease
11 6238960 2 FAM160A2 C A exonic nonsynonymous SNV FAM160A2:NM_001098794:exon9:c.G1856T:p.R619L,FAM160A2:NM_032127:exon9:c.G1898T:p.R633L
11 6411935 2 SMPD1 T C exonic nonsynonymous SNV SMPD1:NM_000543:exon1:c.T107C:p.V36A,SMPD1:NM_001007593:exon1:c.T107C:p.V36A,SMPD1:NM_001318087:exon1:c.T107C:p.V36A
11 6555365 2 DNHD1 A G exonic nonsynonymous SNV DNHD1:NM_144666:exon14:c.A2960G:p.D987G RS7103810 Eye color:Cystatin C in serum:Sporadic Creutzfeldt-Jakob disease:Birth weight:Transmission distortion:Tetrology of fallot:Maternal transmission distortion:Myopia (severe myopia)
11 6585007 2 DNHD1 G A exonic nonsynonymous SNV DNHD1:NM_144666:exon31:c.G9937A:p.D3313N RS11040923 Hypertension (early onset hypertension):Aortic valve calcium
11 6622714 2 RRP8 G A exonic synonymous SNV RRP8:NM_015324:exon3:c.C582T:p.N194N RS2288283 Differential exon level expression of KIAA0409 [probe 3361014] in brain cortex:Premature ovarian failure:Triglycerides:Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease
11 7662732 2 PPFIBP2 C T exonic synonymous SNV PPFIBP2:NM_001256569:exon12:c.C969T:p.D323D,PPFIBP2:NM_001256568:exon13:c.C1062T:p.D354D,PPFIBP2:NM_003621:exon16:c.C1398T:p.D466D RS4643071 Risperidone response in schizophrenia treatment
11 7670440 2 PPFIBP2 A G exonic nonsynonymous SNV PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G
11 7686674 2 CYB5R2 T C exonic synonymous SNV CYB5R2:NM_001302826:exon9:c.A762G:p.L254L,CYB5R2:NM_016229:exon9:c.A762G:p.L254L RS13854 HDL cholesterol:Chronic kidney disease:Gene expression of PPFIBP2 in peripheral blood monocytes:Gene expression of CYB5R2 in peripheral blood monocytes:Gene expression of PPFIBP2 in blood:Advanced age-related macular degeneration (geographic atrophy)
11 7687715 2 CYB5R2 T C exonic nonsynonymous SNV CYB5R2:NM_001302826:exon8:c.A625G:p.N209D,CYB5R2:NM_016229:exon8:c.A625G:p.N209D RS12801394 HDL cholesterol:Chronic kidney disease:Microalbuminuria:Gene expression of PPFIBP2 in blood:Gene expression of CYB5R2 in blood:Advanced age-related macular degeneration (geographic atrophy)
11 9406349 2 IPO7 T C exonic synonymous SNV IPO7:NM_006391:exon1:c.T39C:p.T13T
11 9754221 2 SWAP70 C T exonic synonymous SNV SWAP70:NM_001297714:exon6:c.C870T:p.N290N,SWAP70:NM_015055:exon7:c.C1044T:p.N348N RS360157 Total cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD)
11 9769562 2 SWAP70 C G exonic nonsynonymous SNV SWAP70:NM_001297714:exon9:c.C1339G:p.Q447E,SWAP70:NM_015055:exon10:c.C1513G:p.Q505E RS415895 Total cholesterol:Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD)
11 10529739 2 MTRNR2L8 G A exonic nonsynonymous SNV MTRNR2L8:NM_001190702:exon1:c.C35T:p.S12L
11 10555589 2 RNF141 A G exonic synonymous SNV RNF141:NM_016422:exon2:c.T117C:p.L39L RS1065052 Gene expression of MRVI1 (probeID ILMN_1766157) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRVI1 (probeID ILMN_1766157) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of MRVI1 (probeID ILMN_1766157) in whole blood
11 10786142 2 CTR9 C T exonic synonymous SNV CTR9:NM_001346279:exon12:c.C1461T:p.H487H,CTR9:NM_014633:exon12:c.C1461T:p.H487H RS3736326 Arthritis including non-Rheumatoid:Longstanding arthritis:Advanced age-related macular degeneration (geographic atrophy)
11 10822350 2 EIF4G2 C T exonic synonymous SNV EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P
11 11913585 2 USP47 G T exonic nonsynonymous SNV USP47:NM_017944:exon3:c.G224T:p.G75V,USP47:NM_001282659:exon4:c.G428T:p.G143V,USP47:NM_001330208:exon5:c.G488T:p.G163V RS11022079 Barnes Akathisia Rating Scale:HDL cholesterol:Waist hip ratio:Adiponectin levels
11 11986061 2 DKK3 T C exonic nonsynonymous SNV DKK3:NM_001018057:exon7:c.A1003G:p.R335G,DKK3:NM_001330220:exon8:c.A1045G:p.R349G,DKK3:NM_013253:exon8:c.A1003G:p.R335G,DKK3:NM_015881:exon8:c.A1003G:p.R335G RS3206824 Body mass index (BMI):Adolescent idiopathic scoliosis:Infant head circumference
11 17172133 2 PIK3C2A T C exonic synonymous SNV PIK3C2A:NM_001321380:exon3:c.A99G:p.A33A,PIK3C2A:NM_002645:exon4:c.A1239G:p.A413A,PIK3C2A:NM_001321378:exon5:c.A1239G:p.A413A
11 18267027 2 SAA2 C T exonic nonsynonymous SNV SAA2:NM_030754:exon4:c.G266A:p.R89H RS2468844 Type 1 diabetes:Gene expression of SAA4 (ENSG00000148965) in dendritic cells:Refractive error
11 18555901 2 UEVLD C G exonic synonymous SNV UEVLD:NM_001261384:exon9:c.G834C:p.V278V,UEVLD:NM_001261382:exon10:c.G1158C:p.V386V,UEVLD:NM_001040697:exon11:c.G1224C:p.V408V
11 18555949 2 UEVLD T C exonic synonymous SNV UEVLD:NM_001261384:exon9:c.A786G:p.L262L,UEVLD:NM_001261382:exon10:c.A1110G:p.L370L,UEVLD:NM_001040697:exon11:c.A1176G:p.L392L
11 20065779 2 NAV2 C G exonic nonsynonymous SNV NAV2:NM_001111019:exon4:c.C418G:p.P140A,NAV2:NM_001111018:exon13:c.C2968G:p.P990A,NAV2:NM_145117:exon13:c.C3160G:p.P1054A,NAV2:NM_182964:exon13:c.C3160G:p.P1054A,NAV2:NM_001244963:exon14:c.C3229G:p.P1077A
11 20067064 2 NAV2 C T exonic synonymous SNV NAV2:NM_001111019:exon5:c.C1008T:p.D336D,NAV2:NM_001111018:exon14:c.C3558T:p.D1186D,NAV2:NM_145117:exon14:c.C3750T:p.D1250D,NAV2:NM_182964:exon14:c.C3750T:p.D1250D,NAV2:NM_001244963:exon15:c.C3819T:p.D1273D RS7125647 Triglycerides change with statins:Waist hip ratio
11 20099112 2 NAV2 A T exonic synonymous SNV NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A RS4757028 PROP taste detection threshold
11 20124914 2 NAV2 A C exonic synonymous SNV NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G
11 20529886 2 PRMT3 G A exonic nonsynonymous SNV PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N
11 21154569 2
11 22242729 2 ANO5 T C exonic synonymous SNV ANO5:NM_001142649:exon5:c.T264C:p.D88D,ANO5:NM_213599:exon5:c.T267C:p.D89D RS4312063 Cystatin C in serum:Waist hip ratio:Parkinson's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 26702664 2 SLC5A12 C T exonic synonymous SNV SLC5A12:NM_178498:exon12:c.G1413A:p.L471L
11 27077118 2 BBOX1 C T exonic synonymous SNV BBOX1:NM_003986:exon3:c.C141T:p.S47S
11 27390089 2 LGR4 T C exonic synonymous SNV LGR4:NM_001346432:exon17:c.A2109G:p.K703K,LGR4:NM_018490:exon18:c.A2181G:p.K727K
11 28134974 2 METTL15 C A exonic nonsynonymous SNV METTL15:NM_001113528:exon3:c.C93A:p.N31K,METTL15:NM_001297775:exon3:c.C93A:p.N31K,METTL15:NM_152636:exon3:c.C93A:p.N31K
11 32124978 2 RCN1 T C exonic synonymous SNV RCN1:NM_002901:exon5:c.T840C:p.H280H RS4876 LDL cholesterol change with statins:Total cholesterol:Total cholesterol change with statins:HDL cholesterol:Advanced age-related macular degeneration (geographic atrophy)
11 32125961 2 RCN1 C T exonic synonymous SNV RCN1:NM_002901:exon6:c.C939T:p.V313V RS11529889 LDL cholesterol change with statins:Total cholesterol:Total cholesterol change with statins:Advanced age-related macular degeneration (geographic atrophy)
11 32954344 2 QSER1 G A exonic nonsynonymous SNV QSER1:NM_001076786:exon4:c.G1153A:p.V385I
11 32956244 2 QSER1 A G exonic nonsynonymous SNV QSER1:NM_001076786:exon4:c.A3053G:p.N1018S
11 32956620 2 QSER1 A G exonic synonymous SNV QSER1:NM_001076786:exon4:c.A3429G:p.P1143P RS7481878 Autism:Autism with verbal ability:Bipolar disorder
11 34152939 2 NAT10 T C exonic nonsynonymous SNV NAT10:NM_001144030:exon12:c.T1165C:p.Y389H,NAT10:NM_024662:exon14:c.T1381C:p.Y461H
11 34154641 2 NAT10 C T exonic synonymous SNV NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P
11 34909926 2 APIP T G exonic synonymous SNV APIP:NM_015957:exon5:c.A375C:p.T125T RS1571133 Gene expression of MMRP19 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol:LDL cholesterol:Cystatin C in serum:HDL cholesterol:Height:Adiponectin levels
11 34910397 2 APIP C T exonic nonsynonymous SNV APIP:NM_015957:exon4:c.G227A:p.C76Y RS1977420 Gene expression of MMRP19 in CHB-JPT lymphoblastoid cell lines:Gene expression of APIP [probe 3369249] in peripheral blood mononuclear cells:Partial epilepsy:Asthma
11 34937813 2 APIP G A exonic nonsynonymous SNV APIP:NM_015957:exon1:c.C19T:p.R7W RS2956114 Gene expression of MMRP19 in CHB-JPT lymphoblastoid cell lines:Partial epilepsy:Asthma:Rheumatoid arthritis
11 34937931 2 PDHX G A exonic nonsynonymous SNV PDHX:NM_001135024:exon1:c.G13A:p.G5S
11 34938265 2 PDHX C T exonic synonymous SNV PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P
11 34991727 2 PDHX T C exonic synonymous SNV PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V RS497582 Gene expression of MMRP19 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:Total cholesterol:Birth weight:Adiponectin levels
11 35226155 2 CD44 A G exonic nonsynonymous SNV CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R RS9666607 Total cholesterol change with statins:LDL cholesterol change with statins:Body mass index (BMI):Primary rhegmatogenous retinal detachment
11 45937267 2 PEX16 C T exonic nonsynonymous SNV PEX16:NM_004813:exon4:c.G346A:p.V116I,PEX16:NM_057174:exon4:c.G346A:p.V116I
11 45975130 2 PHF21A C T exonic nonsynonymous SNV PHF21A:NM_001101802:exon10:c.G1040A:p.R347H,PHF21A:NM_016621:exon10:c.G1043A:p.R348H RS3736508 Cystatin C in serum:Chronic kidney disease:HDL cholesterol:Birth weight:College completion
11 46898771 1 LRP4 T C exonic nonsynonymous SNV LRP4:NM_002334:exon23:c.A3256G:p.I1086V RS6485702 Hip bone mineral density (BMD):HDL cholesterol:Low trauma fracture:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Gene expression of probeset 3329470 in lymphoblastoid cell lines:Gene expression of probeset 3371792 in osteoblasts:Lumbar spine bone mineral density (BMD):Femoral neck bone mineral density (BMD):Fasting blood glucose:LDL cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Total hip bone mineral density (BMD) (postmenopausal females):Aortic valve calcium
11 46914583 2 LRP4 T C exonic synonymous SNV LRP4:NM_002334:exon13:c.A1638G:p.K546K
11 46914598 2 LRP4 A G exonic synonymous SNV LRP4:NM_002334:exon13:c.T1623C:p.D541D
11 47238522 2 DDB2 T C exonic synonymous SNV DDB2:NM_000107:exon3:c.T378C:p.T126T,DDB2:NM_001300734:exon3:c.T378C:p.T126T
11 47270255 1 ACP2 C T exonic nonsynonymous SNV ACP2:NM_001302490:exon1:c.G86A:p.R29Q,ACP2:NM_001302491:exon1:c.G86A:p.R29Q,ACP2:NM_001610:exon1:c.G86A:p.R29Q RS2167079 Progressive supranuclear palsy:HDL cholesterol:HDL cholesterol (mmol/l):Fasting blood glucose:Total cholesterol:HDL cholesterol:Asthma:Waist hip ratio:Body mass index (BMI):Late onset Alzheimer's disease:Refractive error
11 47282024 1 NR1H3 C T exonic synonymous SNV NR1H3:NM_001130102:exon3:c.C162T:p.S54S,NR1H3:NM_001130101:exon4:c.C297T:p.S99S,NR1H3:NM_001251934:exon4:c.C315T:p.S105S,NR1H3:NM_001251935:exon4:c.C315T:p.S105S,NR1H3:NM_005693:exon4:c.C297T:p.S99S RS2279238 HDL cholesterol:Fasting blood glucose:Triglycerides change with statins:Total cholesterol:HDL cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Body mass index (BMI):College completion:HDL cholesterol:Acute lung injury following major trauma:Years of education:Refractive error
11 47331116 2 MADD T C exonic synonymous SNV MADD:NM_001135943:exon25:c.T3802C:p.L1268L,MADD:NM_001135944:exon25:c.T3793C:p.L1265L,MADD:NM_130470:exon25:c.T3934C:p.L1312L,MADD:NM_130472:exon25:c.T3805C:p.L1269L,MADD:NM_130474:exon25:c.T3805C:p.L1269L,MADD:NM_130476:exon25:c.T3931C:p.L1311L,MADD:NM_130471:exon26:c.T3865C:p.L1289L,MADD:NM_130473:exon26:c.T3994C:p.L1332L,MADD:NM_003682:exon28:c.T4111C:p.L1371L,MADD:NM_130475:exon28:c.T4111C:p.L1371L
11 47431728 2 SLC39A13 A G exonic nonsynonymous SNV SLC39A13:NM_001128225:exon2:c.A83G:p.E28G,SLC39A13:NM_001330245:exon2:c.A83G:p.E28G,SLC39A13:NM_152264:exon2:c.A83G:p.E28G
11 48188872 1 PTPRJ G A exonic synonymous SNV PTPRJ:NM_002843:exon25:c.G3972A:p.A1324A
11 57077464 2 TNKS1BP1 T C exonic synonymous SNV TNKS1BP1:NM_033396:exon6:c.A2721G:p.Q907Q RS10896602 Gene expression of P2RX3 (ENSG00000109991) in dendritic cells treated with Mycobacterium tuberculosis
11 57463500 2 ZDHHC5 T C exonic synonymous SNV ZDHHC5:NM_015457:exon9:c.T994C:p.L332L RS1783978 Fasting blood glucose:Serum creatinine:Total cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Birth weight
11 57506156 1 TMX2 G C exonic nonsynonymous SNV TMX2:NM_001144012:exon4:c.G348C:p.K116N,TMX2:NM_001347890:exon5:c.G462C:p.K154N,TMX2:NM_001347891:exon5:c.G378C:p.K126N,TMX2:NM_001347892:exon5:c.G255C:p.K85N,TMX2:NM_001347893:exon5:c.G180C:p.K60N,TMX2:NM_001347894:exon5:c.G180C:p.K60N,TMX2:NM_001347895:exon5:c.G180C:p.K60N,TMX2:NM_001347896:exon5:c.G180C:p.K60N,TMX2:NM_001347898:exon5:c.G462C:p.K154N,TMX2:NM_015959:exon5:c.G462C:p.K154N
11 57571232 2 CTNND1 C T exonic synonymous SNV CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H
11 58318619 2 LPXN C G exonic synonymous SNV LPXN:NM_001307951:exon4:c.G345C:p.L115L,LPXN:NM_001143995:exon5:c.G420C:p.L140L,LPXN:NM_004811:exon5:c.G405C:p.L135L RS1047979 Triglycerides:Chronic kidney disease:Systolic blood pressure (SBP)
11 60610065 2 CCDC86 G A exonic synonymous SNV CCDC86:NM_024098:exon1:c.G468A:p.P156P
11 60689445 2 TMEM109 T C exonic synonymous SNV TMEM109:NM_024092:exon4:c.T540C:p.P180P RS555835 Differential exon level expression of TMEM132A [probe 3332643] in brain cortex:Total cholesterol:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal cortex:Gene expression of TMEM109 in blood:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension):Myopia:Primary rhegmatogenous retinal detachment:Gene expression of MS4A10 in normal prepouch ileum
11 60695301 2 TMEM132A C A exonic synonymous SNV TMEM132A:NM_017870:exon3:c.C504A:p.A168A,TMEM132A:NM_178031:exon3:c.C504A:p.A168A RS575123 Myopia
11 60703777 2 TMEM132A G A exonic nonsynonymous SNV TMEM132A:NM_017870:exon11:c.G2473A:p.E825K,TMEM132A:NM_178031:exon11:c.G2470A:p.E824K
11 60899767 2 VPS37C A G exonic nonsynonymous SNV VPS37C:NM_017966:exon5:c.T593C:p.L198S RS754382 Spine bone mineral density (BMD):Fasting blood glucose:HDL cholesterol:Gene expression of CD6 in blood:Gene expression of [probe 1260762 centered at chr11:60755878] in blood:Gene expression of CD5 in blood:Serum PUFA:Serum LA/PUFA
11 61106892 2 TKFC G C exonic synonymous SNV TKFC:NM_015533:exon5:c.G471C:p.T157T
11 61108974 2 TKFC G A exonic nonsynonymous SNV TKFC:NM_015533:exon6:c.G553A:p.A185T
11 61112802 2 TKFC C T exonic synonymous SNV TKFC:NM_015533:exon14:c.C1311T:p.V437V
11 61165280 2 TMEM216 G A exonic synonymous SNV TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P RS3741265 Irritible bowel syndrome:Gene expression of PGA5 in peripheral blood monocytes:Gene expression of PGA3 in peripheral blood monocytes:Gene expression of RFT1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Mitral annular calcium
11 61165741 2 TMEM216;TMEM216 G C exonic;splicing nonsynonymous SNV TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T RS10897158 Irritible bowel syndrome
11 61179285 2 CPSF7 G A exonic synonymous SNV CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I
11 61505168 2 DAGLA G A exonic synonymous SNV DAGLA:NM_006133:exon15:c.G1524A:p.A508A RS198444 Total cholesterol:LDL cholesterol:Serum LA/PUFA:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 62292882 2 AHNAK G T exonic nonsynonymous SNV AHNAK:NM_001346445:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001346446:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001620:exon5:c.C9007A:p.Q3003K RS566144 Chronic kidney disease:Urinary albumin-to-creatinine ratio
11 62381106 2 ROM1 G C exonic nonsynonymous SNV ROM1:NM_000327:exon1:c.G353C:p.G118A
11 62439569 2 UQCC3 G A exonic nonsynonymous SNV UQCC3:NM_001085372:exon2:c.G265A:p.G89S RS13941 Triglycerides change with statins:HDL cholesterol change with statins:Waist hip ratio:Gene expression of EEF1G (probeID ILMN_2262288) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of EEF1G (probeID ILMN_2262288) in cerebellum in Alzheimer's disease cases and controls
11 63585804 2 C11orf84 C A exonic synonymous SNV C11orf84:NM_138471:exon3:c.C574A:p.R192R RS643634 Gene expression of LOC144097 in JPT lymphoblastoid cell lines:HOMA-B:HDL cholesterol change with statins:Systolic blood pressure (SBP):Salmonella-induced pyroptosis:Advanced age-related macular degeneration
11 63681513 2 RCOR2 T C exonic synonymous SNV RCOR2:NM_173587:exon8:c.A804G:p.E268E
11 63997329 2 NUDT22 A G exonic nonsynonymous SNV NUDT22:NM_001128613:exon5:c.A680G:p.Q227R,NUDT22:NM_001271831:exon5:c.A680G:p.Q227R,NUDT22:NM_001128612:exon6:c.A779G:p.Q260R,NUDT22:NM_032344:exon6:c.A779G:p.Q260R
11 63997338 2 NUDT22 T C exonic nonsynonymous SNV NUDT22:NM_001128613:exon5:c.T689C:p.L230P,NUDT22:NM_001271831:exon5:c.T689C:p.L230P,NUDT22:NM_001128612:exon6:c.T788C:p.L263P,NUDT22:NM_032344:exon6:c.T788C:p.L263P
11 64022459 2 PLCB3 A G exonic synonymous SNV PLCB3:NM_001184883:exon2:c.A135G:p.P45P,PLCB3:NM_000932:exon4:c.A336G:p.P112P,PLCB3:NM_001316314:exon4:c.A336G:p.P112P
11 64085785 2 PRDX5 A G exonic nonsynonymous SNV PRDX5:NM_012094:exon1:c.A98G:p.Y33C,PRDX5:NM_181651:exon1:c.A98G:p.Y33C,PRDX5:NM_181652:exon1:c.A98G:p.Y33C
11 64572557 2 MEN1 A G exonic synonymous SNV MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H
11 64621856 2 EHD1 A G exonic synonymous SNV EHD1:NM_006795:exon5:c.T1554C:p.P518P,EHD1:NM_001282445:exon6:c.T1596C:p.P532P,EHD1:NM_001282444:exon7:c.T1554C:p.P518P
11 64677293 2 ATG2A G C exonic nonsynonymous SNV ATG2A:NM_015104:exon14:c.C1967G:p.P656R
11 64809044 2 SAC3D1 C T exonic nonsynonymous SNV SAC3D1:NM_013299:exon1:c.C280T:p.R94C
11 64809090 2 SAC3D1 T G exonic nonsynonymous SNV SAC3D1:NM_013299:exon1:c.T326G:p.L109R
11 64809133 2 SAC3D1 T G exonic synonymous SNV SAC3D1:NM_013299:exon1:c.T369G:p.A123A
11 64809167 2 SAC3D1 A G exonic nonsynonymous SNV SAC3D1:NM_013299:exon1:c.A403G:p.T135A
11 64880090 2 TM7SF2 G C exonic synonymous SNV TM7SF2:NM_001277233:exon2:c.G156C:p.P52P,TM7SF2:NM_003273:exon2:c.G156C:p.P52P
11 64884052 2 ZNHIT2 G A exonic synonymous SNV ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A
11 65144075 2 SLC25A45 T C exonic nonsynonymous SNV SLC25A45:NM_001278250:exon5:c.A598G:p.M200V,SLC25A45:NM_001300820:exon5:c.A484G:p.M162V,SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V,SLC25A45:NM_001278251:exon10:c.A544G:p.M182V RS624307 Salmonella-induced pyroptosis
11 65347636 2 EHBP1L1 G C exonic nonsynonymous SNV EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L,EHBP1L1:NM_001351087:exon5:c.G397C:p.V133L
11 65349849 2 EHBP1L1 A T exonic nonsynonymous SNV EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V
11 65383896 2 PCNX3 G C exonic synonymous SNV PCNX3:NM_032223:exon1:c.G114C:p.V38V
11 65385606 2 PCNX3 A G exonic nonsynonymous SNV PCNX3:NM_032223:exon6:c.A773G:p.Q258R
11 65415028 2 SIPA1 T G exonic synonymous SNV SIPA1:NM_006747:exon9:c.T2205G:p.T735T,SIPA1:NM_153253:exon9:c.T2205G:p.T735T
11 65546857 2 AP5B1 A C exonic synonymous SNV AP5B1:NM_138368:exon2:c.T1107G:p.L369L RS610037 LDL cholesterol:Serum creatinine:Chronic kidney disease:Gene expression of AYP1P1 in peripheral blood monocytes:Gene expression of MAP3K11 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Gene expression of EFEMP2 (ENSG00000172638) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference
11 65547333 2 AP5B1 G A exonic nonsynonymous SNV AP5B1:NM_138368:exon2:c.C631T:p.L211F RS12146493 Total cholesterol:LDL cholesterol:Total cholesterol:Myocardial infarction (MI):Gene expression of OVOL1 (ENSG00000172818) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference:Birth weight
11 65636053 2 EFEMP2 T C exonic nonsynonymous SNV EFEMP2:NM_016938:exon8:c.A775G:p.I259V
11 65664346 2 FOSL1 T C exonic synonymous SNV FOSL1:NM_001300844:exon2:c.A231G:p.Q77Q,FOSL1:NM_001300855:exon2:c.A231G:p.Q77Q,FOSL1:NM_005438:exon2:c.A231G:p.Q77Q
11 65685225 2 C11orf68 T C exonic nonsynonymous SNV C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R
11 65732651 2 SART1 G A exonic synonymous SNV SART1:NM_005146:exon4:c.G516A:p.A172A RS550435 LDL cholesterol:Height:Infant head circumference:Gene expression of SNX32 in normal prepouch ileum
11 65735174 2 SART1 G C exonic nonsynonymous SNV SART1:NM_005146:exon12:c.G1454C:p.G485A RS660118 LDL cholesterol:Height:Infant head circumference:Adiponectin levels
11 66100152 2 RIN1 T C exonic synonymous SNV RIN1:NM_004292:exon10:c.A1947G:p.E649E
11 66107674 2 BRMS1 A G exonic synonymous SNV BRMS1:NM_001024957:exon7:c.T546C:p.D182D,BRMS1:NM_015399:exon7:c.T546C:p.D182D
11 66472274 2 SPTBN2 T C exonic nonsynonymous SNV SPTBN2:NM_006946:exon14:c.A2473G:p.S825G
11 66523904 1 C11orf80 A G exonic nonsynonymous SNV C11orf80:NM_024650:exon3:c.A397G:p.S133G
11 66837965 2 RHOD T C exonic nonsynonymous SNV RHOD:NM_001300886:exon2:c.T202C:p.C68R,RHOD:NM_014578:exon4:c.T400C:p.C134R
11 67257823 2 AIP C A exonic nonsynonymous SNV AIP:NM_001302959:exon5:c.C505A:p.Q169K,AIP:NM_001302960:exon5:c.C682A:p.Q228K,AIP:NM_003977:exon5:c.C682A:p.Q228K
11 67258391 2 AIP A G exonic nonsynonymous SNV AIP:NM_001302959:exon6:c.A743G:p.Q248R,AIP:NM_003977:exon6:c.A920G:p.Q307R
11 67263767 2 PITPNM1 A G exonic synonymous SNV PITPNM1:NM_001130848:exon15:c.T2196C:p.A732A,PITPNM1:NM_004910:exon15:c.T2199C:p.A733A
11 67814979 2 TCIRG1 G C exonic synonymous SNV TCIRG1:NM_006053:exon6:c.G597C:p.L199L,TCIRG1:NM_001351059:exon10:c.G351C:p.L117L,TCIRG1:NM_006019:exon11:c.G1245C:p.L415L
11 67957518 2 KMT5B A T exonic nonsynonymous SNV KMT5B:NM_001300909:exon2:c.T26A:p.I9N,KMT5B:NM_016028:exon2:c.T26A:p.I9N,KMT5B:NM_017635:exon2:c.T26A:p.I9N
11 68171013 2 LRP5 T C exonic synonymous SNV LRP5:NM_002335:exon8:c.T1647C:p.F549F RS545382 Triglycerides:Schizophrenia:Triglycerides:Late onset Alzheimer's disease:Primary rhegmatogenous retinal detachment
11 68549340 2 CPT1A A G exonic synonymous SNV CPT1A:NM_001031847:exon11:c.T1251C:p.F417F,CPT1A:NM_001876:exon11:c.T1251C:p.F417F RS2228502 Gene expression of CPT1A (probeID ILMN_1710052) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of CPT1A (probeID ILMN_1710052) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference
11 68822739 2 TPCN2 T C exonic synonymous SNV TPCN2:NM_139075:exon4:c.T348C:p.A116A
11 71146691 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon9:c.T1158C:p.D386D,DHCR7:NM_001360:exon9:c.T1158C:p.D386D RS760241 Triglycerides:HDL cholesterol:Infant head circumference:Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 666.4 m/z)
11 71152461 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N RS949177 Triglycerides:HDL cholesterol:Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Infant head circumference
11 71155153 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon4:c.T207C:p.T69T,DHCR7:NM_001360:exon4:c.T207C:p.T69T RS1790334 Gene expression of DHCR7 [probe 3380697] in peripheral blood mononuclear cells:Gene expression of NADSYN1 [probe 3338968] in brain cortex:HDL cholesterol:Coronary artery disease (CAD):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 665.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Infant head circumference:Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 679.4 m/z):Serum metabolite (mass spec peak: 626.9 m/z)
11 71184678 2 NADSYN1 A C exonic nonsynonymous SNV NADSYN1:NM_018161:exon8:c.A612C:p.Q204H
11 71185479 2 NADSYN1 T C exonic synonymous SNV NADSYN1:NM_018161:exon9:c.T705C:p.C235C RS2276354 Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Infant head circumference:Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 680.4 m/z)
11 71185518 2 NADSYN1 T C exonic synonymous SNV NADSYN1:NM_018161:exon9:c.T744C:p.I248I RS2186778 Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Infant head circumference:Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z)
11 71401614 2
11 71941212 2 INPPL1 A G exonic synonymous SNV INPPL1:NM_001567:exon9:c.A987G:p.S329S RS2276048 Arthritis including non-Rheumatoid:HDL cholesterol change with statins:Gene expression of FOLR3 in peripheral blood monocytes:Asthma:Gene expression of FOLR2 in liver:Gene expression of ILI8BP in blood:Variant Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Primary rhegmatogenous retinal detachment:Transmission distortion:Gene expression of INPPL1 (probeID ILMN_1728426) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of INPPL1 (probeID ILMN_1728426) in cerebellum in Alzheimer's disease cases and controls
11 74203308 2 LIPT2 T A exonic nonsynonymous SNV LIPT2:NM_001144869:exon2:c.A568T:p.T190S RS586088 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Refractive error:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 74204727 2 LIPT2 A G exonic synonymous SNV LIPT2:NM_001144869:exon1:c.T22C:p.L8L,LIPT2:NM_001329941:exon1:c.T22C:p.L8L,LIPT2:NM_001329942:exon1:c.T22C:p.L8L
11 74559446 2 XRRA1 G C exonic nonsynonymous SNV XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R RS4944960 Gene expression of XRRA1 [probe 230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe 237666_at] in lymphoblastoid cell lines:HDL cholesterol:Tardive dyskinesia:Lp-PLA2 activity:Height:Body mass index (BMI):College completion:Years of education
11 74559481 2 XRRA1 C T exonic synonymous SNV XRRA1:NM_001270380:exon12:c.G1122A:p.P374P,XRRA1:NM_001270381:exon12:c.G558A:p.P186P,XRRA1:NM_182969:exon15:c.G1383A:p.P461P RS4944961 Gene expression of XRRA1 [probe 230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe 237666_at] in lymphoblastoid cell lines:HOMA-IR:Height:Body mass index (BMI):College completion:Parkinson's disease:Gene expression of XRRA1 in normal prepouch ileum:Salmonella-induced pyroptosis
11 74705696 2 NEU3 T C exonic synonymous SNV NEU3:NM_006656:exon2:c.T237C:p.S79S RS544115 Serum creatinine:Total cholesterol:LDL cholesterol:Height:Body mass index (BMI):Gene expression change of NEU3 (ENSG00000162139) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of XRRA1 in normal prepouch ileum:Coronary artery disease (CAD):Gene expression of NEU3 (ENSG00000162139) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference
11 74904362 2 SLCO2B1 T C exonic nonsynonymous SNV SLCO2B1:NM_001145212:exon6:c.T743C:p.I248T,SLCO2B1:NM_001145211:exon9:c.T1109C:p.I370T,SLCO2B1:NM_007256:exon9:c.T1175C:p.I392T
11 74907582 2 SLCO2B1 C T exonic nonsynonymous SNV SLCO2B1:NM_001145212:exon7:c.C1025T:p.S342F,SLCO2B1:NM_001145211:exon10:c.C1391T:p.S464F,SLCO2B1:NM_007256:exon10:c.C1457T:p.S486F RS2306168 Rheumatoid arthritis:Height:Salmonella-induced pyroptosis
11 75152243 2 GDPD5 C T exonic nonsynonymous SNV GDPD5:NM_001351167:exon10:c.G1024A:p.A342T,GDPD5:NM_030792:exon14:c.G1438A:p.A480T,GDPD5:NM_001351168:exon15:c.G703A:p.A235T RS571353 Microalbuminuria:Urinary albumin-to-creatinine ratio
11 77909014 2 USP35 G A exonic nonsynonymous SNV USP35:NM_020798:exon3:c.G706A:p.V236M RS2510044 Eye color:LDL cholesterol:Schizophrenia:LDL cholesterol change with statins:HDL cholesterol change with statins:Total cholesterol change with statins:Serum creatinine:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index (BMI):Microalbuminuria:Gene expression of USP35///GAB2 in blood:Gene expression of GAB2 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD):Advanced age-related macular degeneration
11 77920563 2 USP35 G T exonic synonymous SNV USP35:NM_020798:exon10:c.G1662T:p.P554P RS2510045 LDL cholesterol:LDL cholesterol change with statins:Serum creatinine:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index (BMI):Microalbuminuria:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 77920930 2 USP35 A G exonic nonsynonymous SNV USP35:NM_020798:exon10:c.A2029G:p.I677V RS2511188 Eye color:LDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Serum creatinine:Total cholesterol:LDL cholesterol:Triglycerides:Body mass index (BMI):Gene expression of INT4 [probe ILMN_16097] in osteoblasts treated with PGE2:Gene expression of INT4 [probe ILMN_16097] in osteoblasts treated with pge-2:Longevity:Gene expression of GAB2 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
11 77921527 2 USP35 G C exonic nonsynonymous SNV USP35:NM_020798:exon10:c.G2626C:p.A876P RS2512526 Body mass index (BMI):Mitral annular calcium
11 77930345 2 GAB2 T C exonic synonymous SNV GAB2:NM_012296:exon10:c.A1890G:p.S630S,GAB2:NM_080491:exon10:c.A2004G:p.S668S RS2450122 LDL cholesterol:LDL cholesterol change with statins:Serum creatinine:Body mass index (BMI):Microalbuminuria:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 77936166 2 GAB2 A G exonic synonymous SNV GAB2:NM_012296:exon5:c.T1176C:p.V392V,GAB2:NM_080491:exon5:c.T1290C:p.V430V RS1385600 Late onset Alzheimer's disease:LDL cholesterol:LDL cholesterol change with statins:Serum creatinine:Gene expression of NARS2 in peripheral blood monocytes:Gene expression of GAB2 in peripheral blood monocytes:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index (BMI):Microalbuminuria:Late onset Alzheimer's disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
11 77937800 2 GAB2 G A exonic synonymous SNV GAB2:NM_012296:exon4:c.C804T:p.F268F,GAB2:NM_080491:exon4:c.C918T:p.F306F RS2248407 LDL cholesterol:Serum creatinine:Triglycerides:Total cholesterol:LDL cholesterol:Body mass index (BMI):Microalbuminuria:Alzheimer's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 82535963 2 PRCP C T exonic synonymous SNV PRCP:NM_001319214:exon8:c.G1161A:p.A387A,PRCP:NM_005040:exon9:c.G1476A:p.A492A,PRCP:NM_199418:exon10:c.G1539A:p.A513A RS4759 HOMA-IR:Fasting insulin:Cystatin C in serum
11 82996986 2 CCDC90B A C exonic nonsynonymous SNV CCDC90B:NM_021825:exon1:c.T30G:p.F10L RS494791 Partial epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
11 85374993 2 CREBZF C T exonic synonymous SNV CREBZF:NM_001039618:exon1:c.G927A:p.P309P RS1192 Advanced age-related macular degeneration:College completion:Years of education:Advanced age-related macular degeneration (geographic atrophy)
11 88045583 2 CTSC A G exonic nonsynonymous SNV CTSC:NM_001814:exon3:c.T458C:p.I153T RS217086 Differential exon level expression of CTSC [probe 3385778] in brain cortex:Differential exon level expression of CTSC [probe 3385778] in peripheral blood mononuclear cells:Partial epilepsy:Gene expression of CTSC in CD4+ lymphocytes:Gene expression of CTSC in blood:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy)
11 89868755 2 NAALAD2 G A exonic synonymous SNV NAALAD2:NM_001300930:exon2:c.G111A:p.T37T,NAALAD2:NM_005467:exon2:c.G111A:p.T37T RS10734123 Parkinson's disease (PD):Maternal transmission distortion
11 89935586 2 CHORDC1 G T exonic nonsynonymous SNV CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,CHORDC1:NM_012124:exon11:c.C986A:p.A329D RS1045861 Years of education:College completion:Obesity with early age of onset (age >2)
11 93212254 2 SMCO4 C T exonic synonymous SNV SMCO4:NM_020179:exon3:c.G102A:p.V34V
11 93425159 2 CEP295 C A exonic nonsynonymous SNV CEP295:NM_033395:exon12:c.C1496A:p.A499E RS4753495 Gene expression of LOC374421 in YRI lymphoblastoid cell lines:LDL cholesterol:Adiponectin levels
11 100846936 2 ARHGAP42 A G exonic synonymous SNV ARHGAP42:NM_152432:exon20:c.A2004G:p.P668P RS654593 Total cholesterol
11 100847050 2 ARHGAP42 A G exonic synonymous SNV ARHGAP42:NM_152432:exon20:c.A2118G:p.S706S
11 100847069 2 ARHGAP42 G A exonic nonsynonymous SNV ARHGAP42:NM_152432:exon20:c.G2137A:p.V713I RS569336 Total cholesterol:HDL cholesterol
11 104819327 2 CASP4 T C exonic synonymous SNV CASP4:NM_001225:exon6:c.A858G:p.L286L,CASP4:NM_033306:exon6:c.A690G:p.L230L
11 107420530 2 ALKBH8 A G exonic synonymous SNV ALKBH8:NM_001301010:exon7:c.T729C:p.D243D,ALKBH8:NM_138775:exon7:c.T720C:p.D240D RS645056 Spine bone mineral density (BMD):Fasting blood glucose:HDL cholesterol change with statins:Bipolar disorder:Tourette's syndrome:Tetrology of fallot
11 107917087 2 CUL5 A G exonic synonymous SNV CUL5:NM_003478:exon3:c.A225G:p.Q75Q
11 108183167 2 ATM A G exonic nonsynonymous SNV ATM:NM_000051:exon40:c.A5948G:p.N1983S
11 111749349 2 FDXACB1 A T exonic nonsynonymous SNV FDXACB1:NM_138378:exon2:c.T260A:p.I87N RS611010 Gene expression of PPP2R1B in peripheral blood monocytes
11 113670052 2 USP28 T A exonic synonymous SNV USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T
11 113679119 2 USP28 C T exonic synonymous SNV USP28:NM_001346268:exon14:c.G1206A:p.S402S,USP28:NM_001301029:exon16:c.G1830A:p.S610S,USP28:NM_001346260:exon16:c.G1833A:p.S611S,USP28:NM_001346261:exon16:c.G1830A:p.S610S,USP28:NM_001346264:exon16:c.G1206A:p.S402S,USP28:NM_001346267:exon16:c.G1206A:p.S402S,USP28:NM_001346253:exon17:c.G2127A:p.S709S,USP28:NM_001346257:exon17:c.G2127A:p.S709S,USP28:NM_001346259:exon17:c.G2127A:p.S709S,USP28:NM_001346262:exon17:c.G1830A:p.S610S,USP28:NM_001346263:exon17:c.G1344A:p.S448S,USP28:NM_001346269:exon17:c.G1149A:p.S383S,USP28:NM_001346272:exon17:c.G1149A:p.S383S,USP28:NM_001346252:exon18:c.G2205A:p.S735S,USP28:NM_001346254:exon18:c.G2208A:p.S736S,USP28:NM_001346258:exon18:c.G2205A:p.S735S,USP28:NM_020886:exon18:c.G2205A:p.S735S,USP28:NM_001346255:exon19:c.G2196A:p.S732S,USP28:NM_001346265:exon19:c.G1149A:p.S383S,USP28:NM_001346271:exon19:c.G1149A:p.S383S,USP28:NM_001346270:exon20:c.G1149A:p.S383S RS2465647 Fasting blood glucose:Serum creatinine:Rheumatoid arthritis:Age-related macular degeneration
11 113698002 2 USP28 C T exonic synonymous SNV USP28:NM_001346268:exon7:c.G141A:p.E47E,USP28:NM_001301029:exon9:c.G765A:p.E255E,USP28:NM_001346260:exon9:c.G768A:p.E256E,USP28:NM_001346261:exon9:c.G765A:p.E255E,USP28:NM_001346264:exon9:c.G141A:p.E47E,USP28:NM_001346267:exon9:c.G141A:p.E47E,USP28:NM_001346253:exon10:c.G1062A:p.E354E,USP28:NM_001346257:exon10:c.G1062A:p.E354E,USP28:NM_001346259:exon10:c.G1062A:p.E354E,USP28:NM_001346262:exon10:c.G765A:p.E255E,USP28:NM_001346263:exon10:c.G279A:p.E93E,USP28:NM_001346269:exon10:c.G84A:p.E28E,USP28:NM_001346272:exon10:c.G84A:p.E28E,USP28:NM_001346252:exon11:c.G1140A:p.E380E,USP28:NM_001346254:exon11:c.G1143A:p.E381E,USP28:NM_001346258:exon11:c.G1140A:p.E380E,USP28:NM_001346273:exon11:c.G1140A:p.E380E,USP28:NM_020886:exon11:c.G1140A:p.E380E,USP28:NM_001346255:exon12:c.G1131A:p.E377E,USP28:NM_001346265:exon12:c.G84A:p.E28E,USP28:NM_001346271:exon12:c.G84A:p.E28E,USP28:NM_001346270:exon13:c.G84A:p.E28E RS17802314 Gene expression of MCOLN3 in peripheral blood monocytes:Diastolic blood pressure (DBP)
11 117160347 2 BACE1 A G exonic nonsynonymous SNV BACE1:NM_001207048:exon8:c.T1141C:p.C381R,BACE1:NM_001207049:exon8:c.T1066C:p.C356R,BACE1:NM_012104:exon9:c.T1441C:p.C481R,BACE1:NM_138971:exon9:c.T1309C:p.C437R,BACE1:NM_138972:exon9:c.T1366C:p.C456R,BACE1:NM_138973:exon9:c.T1234C:p.C412R
11 117163824 2 BACE1 C G exonic synonymous SNV BACE1:NM_001207048:exon4:c.G486C:p.V162V,BACE1:NM_001207049:exon4:c.G411C:p.V137V,BACE1:NM_012104:exon5:c.G786C:p.V262V,BACE1:NM_138971:exon5:c.G654C:p.V218V,BACE1:NM_138972:exon5:c.G711C:p.V237V,BACE1:NM_138973:exon5:c.G579C:p.V193V RS638405 Triglycerides:2 hour glucose:Total cholesterol:Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP)
11 118509668 2 PHLDB1 A G exonic synonymous SNV PHLDB1:NM_001144758:exon11:c.A2595G:p.E865E,PHLDB1:NM_001144759:exon11:c.A2595G:p.E865E,PHLDB1:NM_015157:exon12:c.A2595G:p.E865E RS483598 Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria:Type 2 diabetes:Gene expression of TREH in normal prepouch ileum:Obesity with early age of onset (age >2)
11 118893137 2
11 118919206 2 HYOU1 T C exonic synonymous SNV HYOU1:NM_001130991:exon19:c.A2235G:p.A745A,HYOU1:NM_006389:exon19:c.A2235G:p.A745A RS568922 Major depressive disorder:Gene expression of VPS11 in peripheral blood monocytes:Gene expression of HMBS in peripheral blood monocytes:Gene expression of HMBS in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of VPS11 [probe ILMN_13229] in osteoblasts treated with PGE2:Gene expression of HMBS///H2AFX in blood:Gene expression of VPS11 in blood:Gene expression of HMBS in blood:Hypertension (early onset hypertension):Gene expression of C2CD2L (ENSG00000172375) in dendritic cells:Gene expression change of C2CD2L (ENSG00000172375) in dendritic cells after treatment with Mycobacterium tuberculosis
11 118967758 2 DPAGT1 T C exonic nonsynonymous SNV DPAGT1:NM_001382:exon9:c.A1177G:p.I393V RS643788 Gene expression of ATP9B in YRI lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of MIZF [probe 3351957] in brain cortex:Gene expression of MIZF [probe 3351931] in brain cortex:Premature ovarian failure:HDL cholesterol:Chronic kidney disease:Serum creatinine:Height:Late onset Alzheimer's disease:Gene expression of DPAGT1 in blood:Gene expression of MIZF in blood:Gene expression of PDZD3///CCDC153 in blood:Gene expression of C2CD2L in blood:Gene expression of DPAGT1 in normal prepouch ileum
11 119005088 2 HINFP C T exonic synonymous SNV HINFP:NM_198971:exon10:c.C1434T:p.I478I,HINFP:NM_015517:exon11:c.C1434T:p.I478I RS512703 Premature ovarian failure:HDL cholesterol change with statins:Serum creatinine:Gene expression of MIZF in peripheral blood monocytes:Gene expression of HMBS in peripheral blood monocytes:Gene expression of NANOS1 in peripheral blood monocytes:Gene expression of MIZF in blood:Gene expression of DPAGT1 in blood:Advanced age-related macular degeneration (geographic atrophy)
11 119005132 2 HINFP C T exonic nonsynonymous SNV HINFP:NM_198971:exon10:c.C1478T:p.A493V,HINFP:NM_015517:exon11:c.C1478T:p.A493V
11 119043656 2 NLRX1 C T exonic nonsynonymous SNV NLRX1:NM_001282143:exon4:c.C187T:p.P63S,NLRX1:NM_001282144:exon4:c.C187T:p.P63S,NLRX1:NM_001282358:exon4:c.C187T:p.P63S,NLRX1:NM_024618:exon4:c.C187T:p.P63S RS643423 HDL cholesterol:Total cholesterol:Serum creatinine:Triglycerides:Height
11 119052826 2 NLRX1 C A exonic nonsynonymous SNV NLRX1:NM_001282143:exon9:c.C2378A:p.A793E,NLRX1:NM_001282144:exon9:c.C2378A:p.A793E,NLRX1:NM_001282358:exon9:c.C2378A:p.A793E,NLRX1:NM_024618:exon9:c.C2378A:p.A793E RS4245191 HDL cholesterol:Total cholesterol:Serum creatinine:Triglycerides:Height:Gene expression of DPAGT1 in normal prepouch ileum
11 119206375 2 RNF26 G A exonic synonymous SNV RNF26:NM_032015:exon1:c.G543A:p.T181T RS2511841 Rheumatoid arthritis:Triglycerides:Total cholesterol:LDL cholesterol:Plasma brain natriuretic peptide (BNP):Gene expression of ABCG4 [probe ILMN_10212] in osteoblasts treated with BMP2:Gene expression of NOD9 [probe ILMN_16473] in osteoblasts treated with PGE2:Gene expression of ABCG4 [probe ILMN_10212] in osteoblasts treated with bmp:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Tetrology of fallot:Transmission distortion
11 121403229 2 SORL1 T C exonic synonymous SNV SORL1:NM_003105:exon12:c.T1653C:p.A551A
11 124972208 2 TMEM218 A G exonic nonsynonymous SNV TMEM218:NM_001258239:exon3:c.T35C:p.L12S,TMEM218:NM_001258242:exon3:c.T35C:p.L12S,TMEM218:NM_001258246:exon3:c.T35C:p.L12S,TMEM218:NM_001258243:exon4:c.T35C:p.L12S RS14065 LDL cholesterol:Triglycerides change with statins:Gene expression of SLC37A2 [transcript NM_001145290, probe A_23_P86931] in liver:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference
11 125525195 2 CHEK1 A G exonic nonsynonymous SNV CHEK1:NM_001244846:exon12:c.A1309G:p.I437V,CHEK1:NM_001330427:exon12:c.A1459G:p.I487V,CHEK1:NM_001330428:exon12:c.A1129G:p.I377V,CHEK1:NM_001114121:exon13:c.A1411G:p.I471V,CHEK1:NM_001114122:exon13:c.A1411G:p.I471V,CHEK1:NM_001274:exon13:c.A1411G:p.I471V RS506504 HOMA-B:HDL cholesterol change with statins:Triglycerides:Waist hip ratio
11 125766173 2 PUS3 A C exonic nonsynonymous SNV PUS3:NM_031307:exon2:c.T7G:p.Y3D RS622756 Salmonella-induced pyroptosis
11 126081403 2 RPUSD4 T C exonic nonsynonymous SNV RPUSD4:NM_001144827:exon1:c.A131G:p.Q44R,RPUSD4:NM_032795:exon1:c.A131G:p.Q44R RS2282580 Gene expression of TIRAP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Tardive dyskinesia:Major depressive disorder:Cystatin C in serum:Serum creatinine:Gene expression of TIRAP in peripheral blood monocytes:Gene expression of FOXRED1 in peripheral blood monocytes:Gene expression of RPUSD4 in peripheral blood monocytes:Partial epilepsy:Height:Gene expression of TIRAP [transcript NM_148910, probe A_23_P202905] in liver:Gene expression of FOXRED1 in blood:Bipolar disorder:Transmission distortion:Paternal transmission distortion
11 126176578 2 DCPS G A exonic synonymous SNV DCPS:NM_001350236:exon2:c.G336A:p.Q112Q,DCPS:NM_014026:exon2:c.G315A:p.Q105Q RS637462 HDL cholesterol:Cystatin C in serum:Gene expression of FOXRED1 in normal prepouch ileum:Gene expression change of FOXRED1 (ENSG00000110074) in dendritic cells after treatment with Mycobacterium tuberculosis:Refractive error
11 126277216 2 ST3GAL4 C T exonic synonymous SNV ST3GAL4:NM_001254759:exon3:c.C249T:p.Y83Y,ST3GAL4:NM_001254757:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001254758:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001348398:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_001348399:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001348400:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_006278:exon5:c.C240T:p.Y80Y,ST3GAL4:NM_001348396:exon6:c.C315T:p.Y105Y,ST3GAL4:NM_001348397:exon6:c.C315T:p.Y105Y
11 126278075 2 ST3GAL4 C T exonic synonymous SNV ST3GAL4:NM_001254759:exon5:c.C420T:p.Y140Y,ST3GAL4:NM_001254757:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001254758:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001348398:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_001348399:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001348400:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_006278:exon7:c.C411T:p.Y137Y,ST3GAL4:NM_001348396:exon8:c.C486T:p.Y162Y,ST3GAL4:NM_001348397:exon8:c.C486T:p.Y162Y RS2230279 HDL cholesterol:Chronic kidney disease:Sporadic Creutzfeldt-Jakob disease:Coronary artery disease (CAD)
11 130750642 2 SNX19 A C exonic nonsynonymous SNV SNX19:NM_001347924:exon7:c.T653G:p.L218R,SNX19:NM_001347927:exon7:c.T353G:p.L118R,SNX19:NM_001347918:exon8:c.T2513G:p.L838R,SNX19:NM_001301089:exon9:c.T773G:p.L258R,SNX19:NM_001347923:exon9:c.T908G:p.L303R,SNX19:NM_014758:exon9:c.T2633G:p.L878R,SNX19:NM_001347922:exon10:c.T962G:p.L321R,SNX19:NM_001347925:exon10:c.T599G:p.L200R RS2298566 Schizophrenia:Differential exon level expression of SNX19 [probe 3398525] in brain cortex:Gene expression of SNX19 in CD4+ lymphocytes:Allergic rhinitis:Atopy:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 130780015 2 SNX19 C T exonic synonymous SNV SNX19:NM_001301089:exon4:c.G72A:p.P24P,SNX19:NM_001347919:exon4:c.G1932A:p.P644P,SNX19:NM_001347920:exon4:c.G1932A:p.P644P,SNX19:NM_001347921:exon4:c.G1932A:p.P644P,SNX19:NM_001347923:exon4:c.G207A:p.P69P,SNX19:NM_001347926:exon4:c.G72A:p.P24P,SNX19:NM_014758:exon4:c.G1932A:p.P644P,SNX19:NM_001347922:exon5:c.G261A:p.P87P
11 130780225 2 SNX19 C A exonic nonsynonymous SNV SNX19:NM_001347918:exon3:c.G1854T:p.L618F,SNX19:NM_001347919:exon3:c.G1854T:p.L618F,SNX19:NM_001347920:exon3:c.G1854T:p.L618F,SNX19:NM_001347921:exon3:c.G1854T:p.L618F,SNX19:NM_001347923:exon3:c.G129T:p.L43F,SNX19:NM_014758:exon3:c.G1854T:p.L618F,SNX19:NM_001347922:exon4:c.G183T:p.L61F
11 130784754 2 SNX19 C G exonic nonsynonymous SNV SNX19:NM_001347918:exon1:c.G1081C:p.V361L,SNX19:NM_001347919:exon1:c.G1081C:p.V361L,SNX19:NM_001347920:exon1:c.G1081C:p.V361L,SNX19:NM_001347921:exon1:c.G1081C:p.V361L,SNX19:NM_014758:exon1:c.G1081C:p.V361L RS3751037 Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 130784971 2 SNX19 C G exonic synonymous SNV SNX19:NM_001347918:exon1:c.G864C:p.P288P,SNX19:NM_001347919:exon1:c.G864C:p.P288P,SNX19:NM_001347920:exon1:c.G864C:p.P288P,SNX19:NM_001347921:exon1:c.G864C:p.P288P,SNX19:NM_014758:exon1:c.G864C:p.P288P
11 153657083 2
12 662448 2 B4GALNT3 T C exonic synonymous SNV B4GALNT3:NM_173593:exon14:c.T1359C:p.L453L RS758790 HDL cholesterol change with statins:Obsessive-compulsive disorder (OCD)
12 862989 2 WNK1 T C exonic synonymous SNV WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C
12 939302 2 WNK1 A G exonic synonymous SNV WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A RS10774466 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:Gene expression of FKBP9L in peripheral blood monocytes:Advanced age-related macular degeneration:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 987482 2 WNK1 G A exonic synonymous SNV WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q RS1012729 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Lp-PLA2 mass:Gene expression of SERP1 in peripheral blood monocytes:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
12 990912 2 WNK1 A C exonic nonsynonymous SNV WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P RS956868 LDL cholesterol:Total cholesterol:Lp-PLA2 mass
12 993930 2 WNK1 C T exonic synonymous SNV WNK1:NM_014823:exon17:c.C3219T:p.N1073N,WNK1:NM_001184985:exon19:c.C4740T:p.N1580N,WNK1:NM_018979:exon19:c.C3960T:p.N1320N,WNK1:NM_213655:exon19:c.C4716T:p.N1572N RS7300444 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Birth weight
12 994487 2 WNK1 G C exonic nonsynonymous SNV WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S RS7955371 Triglycerides
12 2968458 2 FOXM1 T C exonic synonymous SNV FOXM1:NM_001243088:exon8:c.A1593G:p.R531R,FOXM1:NM_001243089:exon8:c.A1590G:p.R530R,FOXM1:NM_202003:exon8:c.A1593G:p.R531R,FOXM1:NM_021953:exon9:c.A1638G:p.R546R,FOXM1:NM_202002:exon10:c.A1752G:p.R584R
12 6495275 2 LTBR C A exonic synonymous SNV LTBR:NM_001270987:exon5:c.C459A:p.A153A,LTBR:NM_002342:exon5:c.C516A:p.A172A RS2364480 HDL cholesterol:Gene expression of LTBR in Fibroblasts:LDL cholesterol:Total cholesterol:Gene expression of LTBR [probe ILMN_30110] in osteoblasts treated with PGE2:Gene expression of LTBR [probe ILMN_30110] in untreated osteoblasts:Gene expression of LTBR [probe ILMN_30110] in osteoblasts treated with BMP2:Microalbuminuria:Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression of LTBR in blood:Gene expression of IFFO1 in blood:Aortic valve calcium:Gene expression of LTBR (ENSG00000111321) in dendritic cells:Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis:Gene expression of LTBR in normal prepouch ileum:Juvenile idiopathic arthritis (including oligoarticular and rheumatoid factor-negative polyarticular JIA):Oligoarticular juvenile idiopathic arthritis:Gene expression of LTBR (ENSG00000111321) in dendritic cells treated with Mycobacterium tuberculosis
12 6933787 2 GPR162 A G exonic synonymous SNV GPR162:NM_019858:exon2:c.A723G:p.V241V
12 7023123 2 LRRC23 A G exonic nonsynonymous SNV LRRC23:NM_006992:exon7:c.A827G:p.E276G RS710415 Gene expression of B7 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LRRC23 [probe 206076_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of SPSB2 in blood cells in Celiac disease:Gene expression of LRRC23 in blood cells in Celiac disease:Differential exon level expression of ENO2 [probe 3403016] in brain cortex:Gene expression of SPSB2 [probe ILMN_5003] in osteoblasts:Gene expression of SPSB2 in peripheral blood monocytes:Gene expression of LRRC23 in peripheral blood monocytes:Gene expression of LRRC23 in CD4+ lymphocytes:Gene expression of SPSB2 in CD4+ lymphocytes:Severe diabetic retinopathy in type 1 diabetes:Severe diabetic retinopathy in type 1 diabetes (without nephropathy):Gene expression of C12orf57 in blood:Gene expression of TPI1///SPSB2 in blood:Gene expression of GPR162 in blood:Gene expression of LRRC23 in blood:Gene expression of ENO2///LRRC23 in blood:Gene expression of SPSB2 [probeset 223580_at] in sputum:Gene expression of LRRC23 in liver:Gene expression of ATN1 in normal prepouch ileum:Gene expression of LRRC23 (probeID ILMN_2314244) in cerebellum in non-Alzheimer's disease samples:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LRRC23 in normal prepouch ileum:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal cortex in Alzheimer's disease cases:Gene expression of LRRC23 (probeID ILMN_2314244) in cerebellum in Progressive Supranuclear Palsy cases:Parkinson's disease:Gene expression change of LRRC23 (ENSG00000010626) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SPSB2 (ENSG00000111671) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of LRRC23 (probeID ILMN_2314244) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of LRRC23 (probeID ILMN_2314244) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Gene expression of LRRC23 (probeID ILMN_2314244) in cerebellum in Alzheimer's disease cases:Obesity with early age of onset (age >2)
12 7867838 2 DPPA3 G A exonic nonsynonymous SNV DPPA3:NM_199286:exon2:c.G142A:p.A48T
12 7867902 2 DPPA3 C A exonic nonsynonymous SNV DPPA3:NM_199286:exon2:c.C206A:p.A69E
12 8926011 2 RIMKLB T C exonic synonymous SNV RIMKLB:NM_001297776:exon6:c.T792C:p.D264D,RIMKLB:NM_020734:exon6:c.T792C:p.D264D
12 9248233 2 A2M T C exonic nonsynonymous SNV A2M:NM_001347425:exon15:c.A1465G:p.N489D,A2M:NM_000014:exon16:c.A1915G:p.N639D,A2M:NM_001347424:exon16:c.A1615G:p.N539D,A2M:NM_001347423:exon17:c.A1915G:p.N639D
12 10999708 2 PRR4 T C exonic nonsynonymous SNV PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R RS1047699 Rheumatoid arthritis:Gene expression of PRH1 in normal prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRR4 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Alzheimer's disease cases:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in Alzheimer's disease cases:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in non-Alzheimer's disease samples:Gene expression of TAS2R13 in normal prepouch ileum:Gene expression of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R43 in normal prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TAS2R31 in normal prepouch ileum
12 10999780 2 PRR4 C T exonic nonsynonymous SNV PRR4:NM_007244:exon3:c.G287A:p.R96Q RS1063193 Gene expression of PROL4 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Methylation levels at chr12:11354646-11354696 [hg18 coord, probe cg14076161] in Temporal cortex:Methylation levels at chr12:11399184-11399234 [hg18 coord, probe cg04520391] in Temporal cortex:Methylation levels at chr12:11400800-11400850 [hg18 coord, probe cg27345534] in Temporal cortex:PROP taste detection threshold:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of TAS2R46 in normal prepouch ileum:Gene expression of TAS2R14 in normal prepouch ileum:Gene expression of PRB4 in normal prepouch ileum:Gene expression of TAS2R14 (probeID ILMN_1801349) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TAS2R19 in normal prepouch ileum:Gene expression of TAS2R14 (probeID ILMN_1801349) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TAS2R10 in normal prepouch ileum:Gene expression of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R31 in normal prepouch ileum:Gene expression of TAS2R20 in normal prepouch ileum:Gene expression of PRR4 in normal prepouch ileum:Gene expression of PRH1 in normal prepouch ileum:Gene expression of TAS2R9 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of TAS2R13 in normal prepouch ileum
12 11323994 2 SMIM10L1 G A exonic synonymous SNV SMIM10L1:NM_001271592:exon1:c.G39A:p.R13R
12 12301898 2 LRP6 C T exonic nonsynonymous SNV LRP6:NM_002336:exon14:c.G3184A:p.V1062I RS2302685 Fasting blood glucose:Lp-PLA2 activity:Height
12 13221606 2 FAM234B T C exonic synonymous SNV FAM234B:NM_020853:exon9:c.T1329C:p.D443D
12 14688644 2 PLBD1 C T exonic nonsynonymous SNV PLBD1:NM_024829:exon6:c.G793A:p.V265I
12 14720554 2 PLBD1 G T exonic nonsynonymous SNV PLBD1:NM_024829:exon1:c.C77A:p.P26Q
12 14720583 2 PLBD1 T C exonic synonymous SNV PLBD1:NM_024829:exon1:c.A48G:p.P16P
12 20766559 2 PDE3A C T exonic synonymous SNV PDE3A:NM_001244683:exon2:c.C228T:p.V76V,PDE3A:NM_000921:exon3:c.C1194T:p.V398V RS10743380 Eye color:Total cholesterol change with statins
12 27064232 2 INTS13 C T exonic synonymous SNV INTS13:NM_018164:exon15:c.G1824A:p.E608E RS3210635 HDL cholesterol:Schizophrenia:Differential exon level expression of C12orf11 [probe 3448439] in peripheral blood mononuclear cells:Differential exon level expression of C12orf11 [probe 3448439] in brain cortex:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:HDL cholesterol:Height:Adiponectin levels:Gene expression of ITPR2 (ENSG00000123104) in dendritic cells treated with Mycobacterium tuberculosis:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
12 27470866 2 STK38L G A exonic synonymous SNV STK38L:NM_015000:exon11:c.G993A:p.T331T
12 27800746 2 PPFIBP1 G T exonic nonsynonymous SNV PPFIBP1:NM_001198916:exon6:c.G442T:p.V148L,PPFIBP1:NM_003622:exon6:c.G442T:p.V148L,PPFIBP1:NM_177444:exon6:c.G442T:p.V148L
12 31253995 1 DDX11 C T exonic synonymous SNV DDX11:NM_001257144:exon20:c.C1983T:p.L661L,DDX11:NM_001257145:exon20:c.C1905T:p.L635L,DDX11:NM_004399:exon20:c.C1983T:p.L661L,DDX11:NM_030653:exon20:c.C1983T:p.L661L,DDX11:NM_152438:exon20:c.C1983T:p.L661L
12 31255392 1 DDX11 G A exonic nonsynonymous SNV DDX11:NM_004399:exon22:c.G2153A:p.G718E,DDX11:NM_001257144:exon23:c.G2303A:p.G768E,DDX11:NM_001257145:exon23:c.G2225A:p.G742E,DDX11:NM_030653:exon23:c.G2303A:p.G768E,DDX11:NM_152438:exon23:c.G2303A:p.G768E
12 31604928 1 DENND5B G C exonic synonymous SNV DENND5B:NM_144973:exon5:c.C1575G:p.A525A,DENND5B:NM_001308339:exon7:c.C1680G:p.A560A RS3205175 2 hour glucose:Chronic kidney disease:Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex in Alzheimer's disease cases and controls
12 31605044 1 DENND5B G T exonic nonsynonymous SNV DENND5B:NM_144973:exon5:c.C1459A:p.H487N,DENND5B:NM_001308339:exon7:c.C1564A:p.H522N RS1056320 Chronic kidney disease:Plasma renin activity:Gene expression of MGC24039 [probe ILMN_24291] in untreated osteoblasts:Gene expression of MGC24039 [probe ILMN_24291] in osteoblasts treated with PGE2:Gene expression of MGC24039 [probe ILMN_24291] in osteoblasts treated with dexamethasone:Gene expression of MGC24039 [probe ILMN_24291] in osteoblasts treated with BMP2:Gene expression of MGC24039 in liver:Obesity with early age of onset (age >2):Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in Alzheimer's disease cases and controls:Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in Alzheimer's disease cases:Hypertension (early onset hypertension):Gene expression of DENND5B (probeID ILMN_1791593) in cerebellum in non-Alzheimer's disease samples:Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex in Alzheimer's disease cases:Gene expression of DENND5B (probeID ILMN_1791593) in temporal cortex in Progressive Supranuclear Palsy cases:Advanced age-related macular degeneration (geographic atrophy)
12 31648826 1 DENND5B C T exonic nonsynonymous SNV DENND5B:NM_144973:exon2:c.G155A:p.R52K,DENND5B:NM_001308339:exon4:c.G260A:p.R87K RS4930979 APOA1 (apolipoprotein AI):Childhood acute lymphoblastic leukemia:HDL cholesterol change with statins:Salmonella-induced pyroptosis
12 32136750 1 KIAA1551 T C exonic nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T2861C:p.F954S
12 32481093 2 BICD1 G C exonic synonymous SNV BICD1:NM_001003398:exon5:c.G1704C:p.V568V,BICD1:NM_001714:exon5:c.G1704C:p.V568V RS3748275 Total cholesterol change with statins:LDL cholesterol change with statins:Total cholesterol:Birth weight
12 32996192 1 PKP2 G T exonic synonymous SNV PKP2:NM_004572:exon6:c.C1434A:p.A478A
12 32996218 2 PKP2 C A exonic nonsynonymous SNV PKP2:NM_004572:exon6:c.G1408T:p.G470C
12 32996221 2 PKP2 T A exonic nonsynonymous SNV PKP2:NM_004572:exon6:c.A1405T:p.N469Y
12 38712142 2 ALG10B C G exonic nonsynonymous SNV ALG10B:NM_001013620:exon2:c.C251G:p.A84G,ALG10B:NM_001308340:exon2:c.C251G:p.A84G
12 42839836 2 PPHLN1 A C exonic nonsynonymous SNV PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P
12 47168898 2 SLC38A4 G A exonic synonymous SNV SLC38A4:NM_001143824:exon13:c.C1233T:p.P411P,SLC38A4:NM_018018:exon14:c.C1233T:p.P411P
12 49048738 2 KANSL2 G T exonic nonsynonymous SNV KANSL2:NM_017822:exon9:c.C1333A:p.P445T RS3741628 HDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):Gene expression of COL4A3BP in peripheral blood monocytes:Gene expression of DNAJB14 in peripheral blood monocytes:Gene expression of WHDC1 in peripheral blood monocytes:HDL cholesterol:PROP taste detection threshold:Bipolar disorder:Gene expression of C12orf41 in normal prepouch ileum:Adiponectin levels
12 49086963 2 CCNT1 G A exonic synonymous SNV CCNT1:NM_001240:exon9:c.C2034T:p.P678P
12 49221622 1 CACNB3 G A exonic synonymous SNV CACNB3:NM_001206915:exon12:c.G1272A:p.E424E,CACNB3:NM_000725:exon13:c.G1395A:p.E465E,CACNB3:NM_001206916:exon13:c.G1392A:p.E464E,CACNB3:NM_001206917:exon13:c.G1356A:p.E452E RS1045340 Body mass index (BMI):Refractive error:Years of education:Gene expression of DDX23 (ENSG00000174243) in dendritic cells treated with Mycobacterium tuberculosis:College completion
12 49230035 1 DDX23 T G exonic synonymous SNV DDX23:NM_004818:exon11:c.A1251C:p.I417I RS1057908 Serum creatinine:Years of education:Tetrology of fallot:College completion
12 49334762 2 ARF3 G C exonic synonymous SNV ARF3:NM_001659:exon2:c.C117G:p.L39L RS12122 Total cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Aortic valve calcium
12 49522605 1 TUBA1B C T exonic synonymous SNV TUBA1B:NM_006082:exon4:c.G492A:p.K164K
12 49666152 1 TUBA1C G A exonic synonymous SNV TUBA1C:NM_001303114:exon4:c.G702A:p.K234K,TUBA1C:NM_032704:exon4:c.G492A:p.K164K,TUBA1C:NM_001303116:exon5:c.G387A:p.K129K,TUBA1C:NM_001303117:exon5:c.G387A:p.K129K,TUBA1C:NM_001303115:exon6:c.G387A:p.K129K
12 49666182 1 TUBA1C G A exonic synonymous SNV TUBA1C:NM_001303114:exon4:c.G732A:p.A244A,TUBA1C:NM_032704:exon4:c.G522A:p.A174A,TUBA1C:NM_001303116:exon5:c.G417A:p.A139A,TUBA1C:NM_001303117:exon5:c.G417A:p.A139A,TUBA1C:NM_001303115:exon6:c.G417A:p.A139A
12 50189602 2 NCKAP5L A G exonic nonsynonymous SNV NCKAP5L:NM_001037806:exon8:c.T2041C:p.S681P
12 50189807 2 NCKAP5L C A exonic synonymous SNV NCKAP5L:NM_001037806:exon8:c.G1836T:p.S612S RS2720298 Body mass index (BMI):Advanced age-related macular degeneration:Years of education:College completion:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2)
12 50189834 2 NCKAP5L T G exonic synonymous SNV NCKAP5L:NM_001037806:exon8:c.A1809C:p.V603V
12 50190653 2 NCKAP5L C T exonic synonymous SNV NCKAP5L:NM_001037806:exon8:c.G990A:p.Q330Q RS3741555 Rheumatoid arthritis:Infant head circumference:Adiponectin levels
12 50190667 2 NCKAP5L A T exonic nonsynonymous SNV NCKAP5L:NM_001037806:exon8:c.T976A:p.L326M RS3741554 Rheumatoid arthritis:Adiponectin levels:Prostate cancer:Infant head circumference
12 50190920 1 NCKAP5L C T exonic synonymous SNV NCKAP5L:NM_001037806:exon8:c.G723A:p.A241A
12 51135275 2 DIP2B T C exonic synonymous SNV DIP2B:NM_173602:exon37:c.T4431C:p.I1477I
12 51442944 2 LETMD1 G A exonic nonsynonymous SNV LETMD1:NM_001351319:exon1:c.G82A:p.V28I,LETMD1:NM_001351320:exon1:c.G82A:p.V28I,LETMD1:NM_001351327:exon1:c.G82A:p.V28I,LETMD1:NM_001243689:exon2:c.G250A:p.V84I,LETMD1:NM_001300765:exon2:c.G250A:p.V84I,LETMD1:NM_001351312:exon2:c.G82A:p.V28I,LETMD1:NM_001351315:exon2:c.G271A:p.V91I,LETMD1:NM_001351316:exon2:c.G271A:p.V91I,LETMD1:NM_001351317:exon2:c.G250A:p.V84I,LETMD1:NM_001351318:exon2:c.G271A:p.V91I,LETMD1:NM_001351321:exon2:c.G250A:p.V84I,LETMD1:NM_001351325:exon2:c.G250A:p.V84I,LETMD1:NM_001351326:exon2:c.G82A:p.V28I,LETMD1:NM_001351328:exon2:c.G271A:p.V91I,LETMD1:NM_001351332:exon2:c.G250A:p.V84I,LETMD1:NM_001351333:exon2:c.G250A:p.V84I,LETMD1:NM_001351337:exon2:c.G250A:p.V84I,LETMD1:NM_015416:exon2:c.G250A:p.V84I RS12379 Celiac disease:Triglycerides:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension):Gene expression of SLC11A2 in normal prepouch ileum
12 52080965 2 SCN8A C T exonic synonymous SNV SCN8A:NM_001177984:exon5:c.C576T:p.D192D,SCN8A:NM_001330260:exon5:c.C576T:p.D192D,SCN8A:NM_014191:exon5:c.C576T:p.D192D RS4761829 LDL cholesterol:Serum creatinine:Systolic blood pressure (SBP):Refractive error:College completion
12 53294381 1 KRT8 T C exonic synonymous SNV KRT8:NM_002273:exon4:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L
12 53433089 2 EIF4B C A exonic synonymous SNV EIF4B:NM_001330654:exon12:c.C1527A:p.G509G,EIF4B:NM_001300821:exon13:c.C1659A:p.G553G,EIF4B:NM_001417:exon13:c.C1644A:p.G548G
12 53647373 2 MFSD5 T C exonic synonymous SNV MFSD5:NM_001170790:exon2:c.T1075C:p.L359L,MFSD5:NM_032889:exon2:c.T754C:p.L252L RS10876422 Total cholesterol:Height:Gene expression of ESPL1 in normal prepouch ileum:Adiponectin levels
12 53670545 2 ESPL1 C A exonic nonsynonymous SNV ESPL1:NM_012291:exon8:c.C1842A:p.S614R RS1318648 Methylation levels at chr12:51947966-51948016 [hg18 coord, probe cg13445358] in Cerebellum:Height:Gene expression of ESPL1 in normal prepouch ileum:Lumbar spine bone mineral density (BMD):Femoral neck bone mineral density (BMD)
12 53681883 2 ESPL1 A T exonic nonsynonymous SNV ESPL1:NM_012291:exon19:c.A4304T:p.K1435M
12 53686703 2 ESPL1 G A exonic nonsynonymous SNV ESPL1:NM_012291:exon30:c.G6110A:p.R2037H
12 53693532 2 C12orf10 A G exonic nonsynonymous SNV C12orf10:NM_021640:exon1:c.A11G:p.Q4R
12 53693533 2 C12orf10 A C exonic nonsynonymous SNV C12orf10:NM_021640:exon1:c.A12C:p.Q4H
12 53700848 2 C12orf10 C T exonic nonsynonymous SNV C12orf10:NM_021640:exon7:c.C1046T:p.T349I
12 53700860 2 C12orf10 A G exonic nonsynonymous SNV C12orf10:NM_021640:exon7:c.A1058G:p.H353R
12 53703021 2 AAAS G A exonic synonymous SNV AAAS:NM_001173466:exon8:c.C756T:p.F252F,AAAS:NM_015665:exon9:c.C855T:p.F285F
12 54109733 2 CALCOCO1 A G exonic synonymous SNV CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S RS3741658 Total cholesterol:Urinary albumin-to-creatinine ratio
12 56295734 2 PYM1 A G exonic synonymous SNV PYM1:NM_001143853:exon3:c.T534C:p.P178P,PYM1:NM_032345:exon3:c.T537C:p.P179P
12 56398454 2 SUOX G C exonic synonymous SNV SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S RS773115 Gene expression of LOC644191 [probe 217753_s_at] in lymphoblastoid cell lines:Gene expression of LOC728937 [probe 217753_s_at] in lymphoblastoid cell lines:Gene expression of RPS26 [probe 217753_s_at] in lymphoblastoid cell lines:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Rheumatoid arthritis:Acute lung injury following major trauma
12 56647911 2 ANKRD52 G C exonic synonymous SNV ANKRD52:NM_173595:exon8:c.C846G:p.S282S RS808919 Coronary artery disease (CAD):Abnormal Involuntary Movement Scale:HOMA-B:Gene expression of RPS26L1 in peripheral blood monocytes:Gene expression of RPS26L in peripheral blood monocytes:Gene expression of STAT2 in peripheral blood monocytes:Gene expression of SPRYD4 in peripheral blood monocytes:Gene expression of RPS26 in peripheral blood monocytes:Gene expression of CCDC4 in peripheral blood monocytes:Height:Advanced age-related macular degeneration:Transmission distortion:Maternal transmission distortion:Advanced age-related macular degeneration (geographic atrophy)
12 56649601 2 ANKRD52 A G exonic synonymous SNV ANKRD52:NM_173595:exon5:c.T429C:p.A143A RS1274490 Myopia
12 56722060 2 PAN2 T G exonic nonsynonymous SNV PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L
12 56815922 1 TIMELESS C T exonic nonsynonymous SNV TIMELESS:NM_001330295:exon20:c.G2489A:p.R830Q,TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q RS774047 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:Total cholesterol change with statins:Gene expression of RBMS2 in peripheral blood monocytes:College completion:Years of education:Amyotrophic lateral sclerosis (ALS) age of onset:Advanced age-related macular degeneration (geographic atrophy)
12 56822378 1 TIMELESS T A exonic nonsynonymous SNV TIMELESS:NM_001330295:exon12:c.A1360T:p.I454L,TIMELESS:NM_003920:exon12:c.A1363T:p.I455L RS774027 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with statins:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 56825311 1 TIMELESS C T exonic synonymous SNV TIMELESS:NM_001330295:exon8:c.G762A:p.V254V,TIMELESS:NM_003920:exon8:c.G765A:p.V255V RS774033 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with statins:Gene expression of RBMS2 in peripheral blood monocytes:Advanced age-related macular degeneration (geographic atrophy):Amyotrophic lateral sclerosis (ALS) age of onset:Years of education
12 56827694 1 TIMELESS C G exonic synonymous SNV TIMELESS:NM_001330295:exon3:c.G114C:p.L38L,TIMELESS:NM_003920:exon3:c.G114C:p.L38L RS2279665 Irritible bowel syndrome:Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with statins:Gene expression of RBMS2 in peripheral blood monocytes:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 56862886 2 SPRYD4 T C exonic nonsynonymous SNV SPRYD4:NM_207344:exon2:c.T149C:p.M50T
12 56956213 2 RBMS2 T C exonic synonymous SNV RBMS2:NM_002898:exon2:c.T79C:p.L27L RS3759091 Serum creatinine:Gene expression of SPRYD4 in peripheral blood monocytes:Gene expression of RBMS2 in peripheral blood monocytes:Serum Gln:Serum Gln/Glc:Serum Ala/Gln
12 57106660 1 NACA A T exonic synonymous SNV NACA:NM_001113201:exon7:c.T543A:p.I181I,NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001320193:exon7:c.T543A:p.I181I,NACA:NM_001320194:exon7:c.T543A:p.I181I,NACA:NM_005594:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I
12 57108203 1 NACA A G exonic synonymous SNV NACA:NM_001113201:exon4:c.T177C:p.I59I,NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001320193:exon4:c.T177C:p.I59I,NACA:NM_001320194:exon4:c.T177C:p.I59I,NACA:NM_005594:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I
12 57585144 2 LRP1 C T exonic synonymous SNV LRP1:NM_002332:exon44:c.C7278T:p.A2426A RS1800139 Age at menarche:Birth weight
12 57590869 2 LRP1 T C exonic synonymous SNV LRP1:NM_002332:exon56:c.T8997C:p.T2999T
12 57593101 2 LRP1 G A exonic synonymous SNV LRP1:NM_002332:exon61:c.G9783A:p.T3261T
12 57994743 2 PIP4K2C T G exonic synonymous SNV PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L
12 57995089 2 PIP4K2C T C exonic synonymous SNV PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A
12 58019472 2 SLC26A10 T G exonic nonsynonymous SNV SLC26A10:NM_133489:exon14:c.T1636G:p.L546V
12 58174306 2 EEF1AKMT3 T C exonic synonymous SNV EEF1AKMT3:NM_015433:exon3:c.T558C:p.H186H RS923829 Gene expression of DKFZP586D0919 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSFM [probe 212656_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting insulin:Cystatin C in serum:Rheumatoid arthritis:Gene expression of DKFZP586D0919 in Cerebellum:Gene expression of DKFZP586D0919 in Frontal cortex:Gene expression of DKFZP586D0919 in Caudal pons:Height:Gene expression of FAM119B (probeID ILMN_1723846) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAM119B (probeID ILMN_1723846) in whole blood:Sarcoidosis:Gene expression of FAM119B (probeID ILMN_1723846) in cerebellum in Alzheimer's disease cases and controls
12 58176614 2 TSFM T C exonic synonymous SNV TSFM:NM_001172695:exon1:c.T30C:p.F10F,TSFM:NM_001172696:exon1:c.T30C:p.F10F,TSFM:NM_001172697:exon1:c.T30C:p.F10F,TSFM:NM_005726:exon1:c.T30C:p.F10F RS10747783 Gene expression of DKFZP586D0919 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TSFM [probe 212656_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Fasting insulin:Cystatin C in serum:Rheumatoid arthritis:Gene expression of DKFZP586D0919 in Cerebellum:Gene expression of DKFZP586D0919 in Frontal cortex:Gene expression of DKFZP586D0919 in Caudal pons:Height:Gene expression of FAM119B (probeID ILMN_1723846) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAM119B (probeID ILMN_1723846) in cerebellum in Alzheimer's disease cases and controls
12 58204283 2 AVIL T C exonic nonsynonymous SNV AVIL:NM_006576:exon6:c.A610G:p.K204E
12 58350631 2 ATP23 C T exonic synonymous SNV ATP23:NM_001320409:exon5:c.C345T:p.H115H,ATP23:NM_001320408:exon6:c.C543T:p.H181H,ATP23:NM_033276:exon6:c.C699T:p.H233H,ATP23:NM_001320410:exon7:c.C345T:p.H115H RS10122 Gene expression of KUB3 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of XRCC6BP1 [probe 227678_at] in lymphoblastoid cell lines:Gene expression of XRCC6BP1 in blood cells in Celiac disease:Differential exon level expression of XRCC6BP1 [probe 3418634] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1 [probe 3418610] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1 [probe ILMN_16915] in osteoblasts:2 hour glucose:Rheumatoid arthritis:Gene expression of XRCC6BP1 in peripheral blood monocytes:Gene expression of FAM119B in peripheral blood monocytes:Gene expression of XRCC6BP1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of TSFM in blood:Gene expression of XRCC6BP1 in blood:Gene expression of FAM119B///TSFM in blood:Diastolic blood pressure (DBP):Gene expression of XRCC6BP1 [probeset 227678_at] in sputum:Gene expression of XRCC6BP1 in liver:Years of education
12 64472803 2 SRGAP1 A T exonic synonymous SNV SRGAP1:NM_001346201:exon9:c.A1230T:p.S410S,SRGAP1:NM_020762:exon9:c.A1230T:p.S410S
12 64519806 1 SRGAP1 T C exonic synonymous SNV SRGAP1:NM_001346201:exon19:c.T2205C:p.S735S,SRGAP1:NM_020762:exon19:c.T2274C:p.S758S RS789722 Eye color:Resistance to kuru in aged women despite likely exposure
12 64587633 2 C12orf66 C A exonic nonsynonymous SNV C12orf66:NM_001300940:exon3:c.G1327T:p.A443S,C12orf66:NM_001300941:exon3:c.G1168T:p.A390S,C12orf66:NM_152440:exon3:c.G1327T:p.A443S RS699638 Urinary albumin-to-creatinine ratio
12 64609562 2 C12orf66 C T exonic nonsynonymous SNV C12orf66:NM_001300940:exon2:c.G417A:p.M139I,C12orf66:NM_001300941:exon2:c.G258A:p.M86I,C12orf66:NM_152440:exon2:c.G417A:p.M139I
12 65563754 1 LEMD3 C T exonic synonymous SNV LEMD3:NM_001167614:exon1:c.C378T:p.S126S,LEMD3:NM_014319:exon1:c.C378T:p.S126S
12 66546100 2 TMBIM4 A G exonic nonsynonymous SNV TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T,TMBIM4:NM_001282606:exon4:c.T404C:p.I135T RS8793 Gene expression of TMBIM4 [probe 219206_x_at] in lymphoblastoid cell lines:Gene expression of TMBIM4 [probe 3460593] in peripheral blood mononuclear cells:Differential exon level expression of TMBIM4 [probe 3460596] in peripheral blood mononuclear cells:Gene expression of TMBIM4 in CD4+ lymphocytes:Gene expression of TMBIM4 [probe ILMN_22938] in osteoblasts treated with dexamethasone:Gene expression of IRAK3 in blood:Gene expression of [probe 5720768 centered at chr12:64934553] in blood:Gene expression of TMBIM4 [probeset 219206_x_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMBIM4 in normal prepouch ileum:Gene expression of TMBIM4 (probeID ILMN_1664750) in cerebellum in Alzheimer's disease cases and controls
12 72013832 1 ZFC3H1 A G exonic synonymous SNV ZFC3H1:NM_144982:exon26:c.T4923C:p.A1641A RS1298463 Hypertension:LDL cholesterol:2 hour glucose:LDL cholesterol change with statins:Adiponectin levels
12 72307616 2 TBC1D15 A G exonic synonymous SNV TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q RS3759171 Rheumatoid arthritis:Schizophrenia:Cystatin C in serum:Waist hip ratio:Gene expression of TBC1D15 in blood:Transmission distortion
12 76449900 2 NAP1L1 T C exonic synonymous SNV NAP1L1:NM_001330232:exon5:c.A282G:p.K94K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K
12 76453966 2 NAP1L1 G A exonic synonymous SNV NAP1L1:NM_001330232:exon3:c.C111T:p.H37H,NAP1L1:NM_001307924:exon5:c.C300T:p.H100H,NAP1L1:NM_001330231:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H
12 79611374 2 SYT1 C T exonic synonymous SNV SYT1:NM_001135806:exon3:c.C75T:p.N25N,SYT1:NM_001291901:exon3:c.C75T:p.N25N,SYT1:NM_005639:exon4:c.C75T:p.N25N,SYT1:NM_001135805:exon5:c.C75T:p.N25N RS2037743 Adiponectin levels
12 80014907 2 PAWR A T exonic synonymous SNV PAWR:NM_002583:exon3:c.T597A:p.I199I RS2307223 Total cholesterol:HDL cholesterol change with statins:LDL cholesterol:Chronic kidney disease:Birth weight
12 80190650 1 PPP1R12A C G exonic synonymous SNV PPP1R12A:NM_001244992:exon16:c.G2205C:p.L735L,PPP1R12A:NM_001143886:exon17:c.G2112C:p.L704L,PPP1R12A:NM_002480:exon17:c.G2373C:p.L791L,PPP1R12A:NM_001143885:exon18:c.G2373C:p.L791L,PPP1R12A:NM_001244990:exon18:c.G2373C:p.L791L RS2694657 HOMA-B:Fasting insulin:HOMA-IR:Cystatin C in serum:Serum creatinine
12 82783668 2 METTL25 C T exonic synonymous SNV METTL25:NM_001319675:exon3:c.C237T:p.I79I,METTL25:NM_032230:exon3:c.C498T:p.I166I,METTL25:NM_001347934:exon4:c.C342T:p.I114I RS10778908 HDL cholesterol change with statins
12 82792787 2 METTL25 C A exonic nonsynonymous SNV METTL25:NM_001319675:exon4:c.C484A:p.Q162K,METTL25:NM_032230:exon4:c.C745A:p.Q249K,METTL25:NM_001347934:exon5:c.C589A:p.Q197K RS4296098 Gene expression of C12orf26 in liver:HDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob disease
12 88440676 1 C12orf29 G C exonic nonsynonymous SNV C12orf29:NM_001009894:exon6:c.G712C:p.V238L RS9262 Gene expression of FLJ13615 in CHB-JPT lymphoblastoid cell lines:LDL cholesterol
12 89917518 2 GALNT4;POC1B-GALNT4 A G exonic nonsynonymous SNV GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T RS2230281 Triglycerides:Cystatin C in serum:LDL cholesterol:Total cholesterol:Height:Coronary artery disease (CAD):Adiponectin levels
12 93196422 2 EEA1 T G exonic nonsynonymous SNV EEA1:NM_003566:exon19:c.A2428C:p.K810Q RS10745623 Height:Urinary albumin-to-creatinine ratio:Microalbuminuria
12 93202801 2 EEA1 C T exonic synonymous SNV EEA1:NM_003566:exon18:c.G2331A:p.E777E RS7970286 Paired associates learning total errors 8 patterns:Partial epilepsy:Hypertension (early onset hypertension)
12 94769758 2 CEP83 A G exonic synonymous SNV CEP83:NM_001042399:exon7:c.T837C:p.R279R,CEP83:NM_001346457:exon7:c.T837C:p.R279R,CEP83:NM_001346459:exon7:c.T525C:p.R175R,CEP83:NM_001346461:exon7:c.T837C:p.R279R,CEP83:NM_001346462:exon7:c.T525C:p.R175R,CEP83:NM_001346458:exon8:c.T525C:p.R175R,CEP83:NM_001346460:exon8:c.T837C:p.R279R,CEP83:NM_016122:exon8:c.T837C:p.R279R RS4761611 Eye color:Premature ovarian failure:LDL cholesterol:Adiponectin levels
12 94975799 1 TMCC3 G A exonic synonymous SNV TMCC3:NM_001301036:exon2:c.C501T:p.F167F,TMCC3:NM_020698:exon2:c.C594T:p.F198F RS3747553 Rheumatoid arthritis:Systolic blood pressure (SBP):Parkinson's disease:Infant head circumference:Birth weight
12 95604290 1 FGD6 T C exonic nonsynonymous SNV FGD6:NM_018351:exon2:c.A770G:p.Q257R RS10507047 Premature ovarian failure:Gene expression of VEZT in blood
12 95694394 1 VEZT G A exonic nonsynonymous SNV VEZT:NM_017599:exon12:c.G2285A:p.G762D RS14121 Gene expression of VEZT [probe ILMN_22823] in osteoblasts:LDL cholesterol:Total cholesterol:Gene expression of VEZT in CD4+ lymphocytes:Gene expression of VEZT in blood:Gene expression of VEZT (ENSG00000028203) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of VEZT (ENSG00000028203) in dendritic cells
12 99007623 1 IKBIP C T exonic nonsynonymous SNV IKBIP:NM_201612:exon3:c.G793A:p.G265S RS1048906 Gene expression of [probe 3170605 centered at chr12:97542310] in blood:Gene expression of SLC25A3///SNORA53 in blood
12 101017445 2 GAS2L3 T C exonic synonymous SNV GAS2L3:NM_001303130:exon9:c.T862C:p.L288L,GAS2L3:NM_001303131:exon10:c.T550C:p.L184L,GAS2L3:NM_174942:exon10:c.T862C:p.L288L
12 101732655 1 UTP20 C T exonic synonymous SNV UTP20:NM_014503:exon31:c.C3933T:p.S1311S
12 101732670 1 UTP20 C T exonic synonymous SNV UTP20:NM_014503:exon31:c.C3948T:p.S1316S
12 101750814 2 UTP20 T A exonic nonsynonymous SNV UTP20:NM_014503:exon43:c.T5645A:p.L1882Q RS10082778 Total cholesterol:Parkinson's disease
12 101755809 1 UTP20 T C exonic synonymous SNV UTP20:NM_014503:exon44:c.T5761C:p.L1921L
12 102117589 2 CHPT1 C T exonic synonymous SNV CHPT1:NM_020244:exon7:c.C1029T:p.N343N RS11082 LDL cholesterol:Triglycerides:Fasting blood glucose
12 102158763 2 GNPTAB T C exonic synonymous SNV GNPTAB:NM_024312:exon13:c.A1932G:p.T644T RS10778148 Gene expression of CHPT1 [probe 230364_at] in lymphoblastoid cell lines:Gene expression of CHPT1 [probe 221675_s_at] in lymphoblastoid cell lines
12 102517804 1 PARPBP G A exonic synonymous SNV PARPBP:NM_001319988:exon2:c.G138A:p.A46A,PARPBP:NM_001319996:exon2:c.G138A:p.A46A,PARPBP:NM_017915:exon2:c.G138A:p.A46A RS2036771 Gene expression of CCDC53 [probe 218628_at] in lymphoblastoid cell lines:Panic disorder:HOMA-B:HOMA-IR:Fasting insulin:Total cholesterol:LDL cholesterol:Gene expression of CCDC53 [probe 218628_at] in prefrontal cortex:Gene expression of CCDC53 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Height:College completion
12 105546172 2 WASHC4 G A exonic nonsynonymous SNV WASHC4:NM_001293640:exon26:c.G2704A:p.V902I,WASHC4:NM_015275:exon26:c.G2701A:p.V901I RS1663564 Triglycerides change with statins:LDL cholesterol:Gene expression of DIP13B in CD4+ lymphocytes:Body mass index (BMI):Gene expression of [probe 5810743 centered at chr12:104288777] in blood:Gene expression of APPL2 in blood:College completion
12 105568122 2 APPL2 G A exonic synonymous SNV APPL2:NM_001251904:exon21:c.C1983T:p.N661N,APPL2:NM_001251905:exon21:c.C1836T:p.N612N,APPL2:NM_018171:exon21:c.C1965T:p.N655N RS935241 Fasting blood glucose:Total cholesterol change with statins
12 105568176 2 APPL2 G A exonic synonymous SNV APPL2:NM_001251904:exon21:c.C1929T:p.D643D,APPL2:NM_001251905:exon21:c.C1782T:p.D594D,APPL2:NM_018171:exon21:c.C1911T:p.D637D RS935240 Fasting blood glucose:Total cholesterol change with statins
12 106903321 2 POLR3B T C exonic synonymous SNV POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N RS13561 Gene expression of POLR3B in liver:Simpson-Angus Scale:Height:Adiponectin levels
12 107395106 2 CRY1 A G exonic synonymous SNV CRY1:NM_004075:exon5:c.T636C:p.G212G RS8192440 2 hour glucose:Triglycerides:Systolic blood pressure (SBP):Maternal transmission distortion:Hypertension (early onset hypertension):Transmission distortion
12 108918146 2 SART3 C T exonic synonymous SNV SART3:NM_014706:exon18:c.G2661A:p.P887P RS2303633 Height:Gene expression of ISCU [probeset 209075_s_at] in sputum:Maternal transmission distortion
12 108923950 2 SART3 A G exonic synonymous SNV SART3:NM_014706:exon15:c.T1884C:p.D628D
12 108954823 2 SART3 C T exonic synonymous SNV SART3:NM_014706:exon1:c.G108A:p.R36R
12 109623516 2 ACACB G A exonic nonsynonymous SNV ACACB:NM_001093:exon11:c.G1951A:p.A651T RS2300455 Gene expression of SPIN2B in peripheral blood monocytes:Gene expression of ACACB in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Gene expression of ACACB in blood:Hypertension (early onset hypertension):Years of education
12 109675029 2 ACACB T C exonic synonymous SNV ACACB:NM_001093:exon33:c.T4506C:p.L1502L RS2241220 Neuroticism:Abnormal Involuntary Movement Scale:Cervical cancer:Gene expression of ACACB in blood:PROP taste detection threshold
12 111884608 2 SH2B3 T C exonic nonsynonymous SNV SH2B3:NM_001291424:exon2:c.T178C:p.W60R,SH2B3:NM_005475:exon3:c.T784C:p.W262R RS3184504 Systemic lupus erythematosus (SLE) (females):Celiac disease:Irritible bowel syndrome:LDL cholesterol:HDL cholesterol:Blood eosinophil count:Myocardial infarction (MI):Red blood cell count (RBC):Hemoglobin (Hb):Monocyte count:Hematocrit (Hct):Neutrophil count:Lymphocyte count:Eosinophil count:Platelet count (PLT):White blood cell count (WBC):Asthma (with atopy):Asthma:Hypertension:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Type 1 diabetes:Platelet count (PLT):Coronary artery disease (CAD):Myocardial infarction (MI):Hematocrit (Hct):Systolic blood pressure (SBP) and diastolic blood pressure (DBP):Hemoglobin (Hb):Erythrocyte count:LDL cholesterol:LDL cholesterol change with statins:Lymphocyte levels (CD4):Celiac disease:Cystatin C in serum:Serum creatinine:Lp-PLA2 activity:Lp-PLA2 mass:Rheumatoid arthritis:Primary biliary cirrhosis (antimitochondrial-antibody positive only):Primary biliary cirrhosis:LDL cholesterol:Total cholesterol:HDL cholesterol:Selective immunoglobulin A deficiency (IgAD):Systolic blood pressure (SBP):Body mass index (BMI):Diastolic blood pressure (mean 24-hour):Systolic blood pressure (SBP), 24 hour mean:Retinal venular caliber:Hematocrit (Hct):Hemoglobin (Hb):Hypertension:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Coronary artery disease (CAD):Coronary artery disease (CAD) with age of onset >50:Coronary artery disease (CAD) with age of onset <=50:Coronary artery disease (CAD) (women):Coronary artery disease (CAD) (men):Myocardial infarction (MI):Celiac disease:Rheumatoid arthritis and celiac disease:Rheumatoid arthritis:Soluble intercellular adhesion molecule 1 (ICAM-1):Incident myocardial infarction (MI):AL049919 gene expression in liver tissue:Gene expression of SH2B3///ATXN2 in blood:Gene expression of UBE2L6 in blood:Gene expression of NALP12 in blood:Gene expression of [probe 6650035 centered at chr12:88628314] in blood:Gene expression of GBP2 in blood:Gene expression of MEF2C in blood:Glutamate decarboxylase autoantibody positive (GADA) Type 1 diabetes:Autoantigen thyroid peroxidase positive (TPOA) Type 1 diabetes:Type 1 diabetes:Pulse pressure:Mean arterial pressure:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Hypertension:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of TCTN1 in blood:Gene expression of CUX2 in prefrontal cortex:Gene expression of CUX2 in visual cortex:Type 1 diabetes:Celiac disease:Diastolic blood pressure (DBP):Platelet count (PLT):Hemoglobin (Hb):Red blood cell count (RBC):LDL cholesterol:Refractive error:Primary biliary cirrhosis:Coronary artery disease (CAD) (males):Drug-induced liver injury-all DILI cases presenting with any of three recorded extrahepatic immuno-allergic features (eosinophilia, fever, and/or rash):Body mass index (BMI):Coronary artery disease (CAD):Serum urate:Hemoglobin (Hb):Generalized vitiligo:Total cholesterol:Primary sclerosing cholangitis:Type 2 diabetes:Total cholesterol:HDL cholesterol:Coronary artery disease (CAD) (females):Hemoglobin (Hb) among individuals who do not have B-thalassemia:Hypothyroidism:Coronary artery disease (CAD) age >50:Tetrology of fallot:Platelet count:LDL cholesterol:Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis:LDL cholesterol:Systolic blood pressure (SBP):Primary sclerosing cholangitis:Oligoarticular juvenile idiopathic arthritis:Coronary artery disease (CAD):Years of education:Red blood cell count (RBC):Hematocrit (Hct):Plasma Beta-2 microglobulin levels:Drug-induced liver injury-all DILI cases presenting with fever:Total cholesterol:Diastolic blood pressure (DBP):Juvenile idiopathic arthritis (including oligoarticular and rheumatoid factor-negative polyarticular JIA)
12 112191641 1 ACAD10 G A exonic synonymous SNV ACAD10:NM_025247:exon19:c.G2883A:p.A961A,ACAD10:NM_001136538:exon20:c.G2976A:p.A992A
12 112460147 1 ERP29 T G exonic synonymous SNV ERP29:NM_006817:exon3:c.T477G:p.P159P
12 112477055 1 NAA25 T C exonic nonsynonymous SNV NAA25:NM_024953:exon22:c.A2627G:p.K876R
12 112650383 1 HECTD4 G T exonic synonymous SNV HECTD4:NM_001109662:exon49:c.C7135A:p.R2379R
12 112667675 2 HECTD4 T G exonic synonymous SNV HECTD4:NM_001109662:exon41:c.A5944C:p.R1982R RS1005902 Type 1 diabetes:LDL cholesterol:Gene expression of ALDH2 in peripheral blood monocytes:Gene expression of BZW2 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
12 112703732 1 HECTD4 A C exonic synonymous SNV HECTD4:NM_001109662:exon15:c.T2016G:p.A672A RS2301757 Alcohol consumption
12 113796566 1 PLBD2 A C exonic nonsynonymous SNV PLBD2:NM_001159727:exon1:c.A161C:p.Q54P,PLBD2:NM_173542:exon1:c.A161C:p.Q54P
12 114377899 2 RBM19 G C exonic nonsynonymous SNV RBM19:NM_001146698:exon15:c.C1804G:p.Q602E,RBM19:NM_001146699:exon15:c.C1804G:p.Q602E,RBM19:NM_016196:exon15:c.C1804G:p.Q602E
12 118682751 2 TAOK3 C T exonic nonsynonymous SNV TAOK3:NM_001346487:exon4:c.G140A:p.S47N,TAOK3:NM_001346489:exon4:c.G140A:p.S47N,TAOK3:NM_016281:exon4:c.G140A:p.S47N,TAOK3:NM_001346488:exon5:c.G140A:p.S47N RS428073 Arthritis including non-Rheumatoid:Differential exon level expression of PEBP1 [probe 3433809] in brain cortex:Gene expression of PEBP1 [probe 3433796] in brain cortex:Differential exon level expression of TAOK3 [probe 3473856] in brain cortex:Microalbuminuria:Diastolic blood pressure (DBP):Bipolar disorder
12 120575549 2 GCN1 A C exonic nonsynonymous SNV GCN1:NM_006836:exon49:c.T6463G:p.Y2155D
12 120589160 2 GCN1 A G exonic synonymous SNV GCN1:NM_006836:exon34:c.T4098C:p.L1366L RS2286046 Height:Body mass index (BMI):Diastolic blood pressure (DBP)
12 120661977 2 PXN T C exonic nonsynonymous SNV PXN:NM_001080855:exon2:c.A217G:p.S73G,PXN:NM_001243756:exon2:c.A217G:p.S73G,PXN:NM_002859:exon2:c.A217G:p.S73G RS4767884 Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of GCN1L1 [transcript NM_006836, probe A_23_P406105] in liver:Gene expression of GCN1L1 in blood
12 121017171 2 POP5 A G exonic synonymous SNV POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L RS7174 Gene expression of POP5 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Eye color:Waist hip ratio:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of GATC in blood:Gene expression of COQ5 in blood:Gene expression of POP5 in blood:College completion:Type 1 diabetes, end stage renal disease vs. normal albuminuria:Years of education
12 121437382 2 HNF1A A G exonic nonsynonymous SNV HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G
12 122079441 2 ORAI1 T C exonic synonymous SNV ORAI1:NM_032790:exon2:c.T804C:p.T268T RS3825175 Obesity with early age of onset (age >2)
12 122248582 2 SETD1B C G exonic synonymous SNV SETD1B:NM_015048:exon5:c.C1731G:p.L577L
12 122326812 2 PSMD9 T C exonic nonsynonymous SNV PSMD9:NM_001261400:exon1:c.T50C:p.V17A,PSMD9:NM_002813:exon1:c.T50C:p.V17A RS2230681 Triglycerides:2 hour glucose:HOMA-B:Nicotine dependence (smoking):Escitalopram or Nortriptyline treated major depressive disorder:Partial epilepsy:Gene expression of WDR66 [probe ILMN_4287] in osteoblasts treated with dexamethasone:2-Hydroxyisobutyrate concentration:Gene expression of ENST00000391388 in blood:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Hypertension (early onset hypertension):Advanced age-related macular degeneration:Adiponectin levels
12 123645803 2 MPHOSPH9 G A exonic synonymous SNV MPHOSPH9:NM_022782:exon22:c.C3261T:p.Y1087Y RS1051431 Rheumatoid arthritis:Height:Body mass index (BMI):Height (adult males):Height (adult females):Height (adults):2-Hydroxyisobutyrate concentration:Diastolic blood pressure (DBP):Gene expression of SETD8 in normal prepouch ileum:Advanced age-related macular degeneration:Years of education:Infant head circumference:College completion:Gene expression of C12orf65 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
12 124008073 2 RILPL1 A G exonic synonymous SNV RILPL1:NM_001319243:exon2:c.T429C:p.N143N,RILPL1:NM_178314:exon2:c.T429C:p.N143N RS2292500 Renal cell carcinoma (renal cancer):Adiponectin levels
12 124069213 2 TMED2 T C exonic synonymous SNV TMED2:NM_001321445:exon1:c.T30C:p.L10L,TMED2:NM_006815:exon1:c.T30C:p.L10L
12 124210782 2 ATP6V0A2 T C exonic synonymous SNV ATP6V0A2:NM_012463:exon5:c.T471C:p.S157S RS1399961 HDL cholesterol:Gene expression of TCTN2 [probe 3435980] in brain cortex:Differential exon level expression of TCTN2 [probe 3435996] in brain cortex:Differential exon level expression of TCTN2 [probe 3435994] in brain cortex:Fasting insulin:HOMA-IR:HOMA-B:Methylation levels at chr12:122762231-122762281 [hg18 coord, probe cg04140754] in Frontal cortex:Methylation levels at chr12:122762231-122762281 [hg18 coord, probe cg04140754] in Temporal cortex:Gene expression of ATP6V0A2 in normal prepouch ileum:Adiponectin levels:Gene expression change of GTF2H3 (ENSG00000111358) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of TCTN2 in normal prepouch ileum
12 125397750 2 UBC A G exonic nonsynonymous SNV UBC:NM_021009:exon2:c.T568C:p.S190P
12 125448960 2 DHX37 C T exonic synonymous SNV DHX37:NM_032656:exon15:c.G2025A:p.T675T RS4076777 HDL cholesterol
12 131276448 2 STX2 G T exonic nonsynonymous SNV STX2:NM_001351049:exon10:c.C800A:p.P267H
12 132237848 2 SFSWAP T C exonic nonsynonymous SNV SFSWAP:NM_001261411:exon8:c.T1262C:p.L421P,SFSWAP:NM_004592:exon8:c.T1262C:p.L421P
12 132271113 2 SFSWAP T C exonic synonymous SNV SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S
12 132403161 2 ULK1 A G exonic nonsynonymous SNV ULK1:NM_003565:exon23:c.A2446G:p.T816A
12 132445670 1 EP400 G A exonic nonsynonymous SNV EP400:NM_015409:exon2:c.G506A:p.G169D
12 132446055 1 EP400 A G exonic synonymous SNV EP400:NM_015409:exon2:c.A891G:p.T297T
12 132446281 1 EP400 T C exonic nonsynonymous SNV EP400:NM_015409:exon2:c.T1117C:p.Y373H
12 133208979 2 POLE T C exonic synonymous SNV POLE:NM_006231:exon45:c.A6252G:p.S2084S RS5745022 Cystatin C in serum:Gene expression of POLE in Frontal cortex:Gene expression of POLE in Cerebellum:Gene expression of POLE in Temporal cortex:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and controls
12 133219831 2 POLE T C exonic synonymous SNV POLE:NM_006231:exon35:c.A4530G:p.A1510A RS5744944 LDL cholesterol:Chronic kidney disease:Cystatin C in serum:Body mass index (BMI):Gene expression of POLE (probeID ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and controls:Birth weight
12 133236000 2 POLE C T exonic synonymous SNV POLE:NM_006231:exon26:c.G3156A:p.T1052T RS5744857 LDL cholesterol:Chronic kidney disease:Cystatin C in serum:Body mass index (BMI):Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls
12 133378440 2 GOLGA3 C T exonic synonymous SNV GOLGA3:NM_001172557:exon8:c.G1713A:p.L571L,GOLGA3:NM_005895:exon8:c.G1713A:p.L571L RS2291258 Stabilized warfarin dose:Differential exon level expression of CHFR [probe 3479486] in brain cortex:Premature ovarian failure:Suicide attempts in bipolar disorder (males):Birth weight:Primary rhegmatogenous retinal detachment
12 133433173 2 CHFR T C exonic synonymous SNV CHFR:NM_001161347:exon8:c.A870G:p.R290R,CHFR:NM_001161344:exon10:c.A1146G:p.R382R,CHFR:NM_001161345:exon10:c.A1146G:p.R382R,CHFR:NM_001161346:exon10:c.A1110G:p.R370R,CHFR:NM_018223:exon10:c.A1023G:p.R341R RS2062163 Type 2 diabetes, combined control dataset:Abnormal Involuntary Movement Scale:Microalbuminuria
12 133587980 2 ZNF26 C T exonic synonymous SNV ZNF26:NM_001256280:exon3:c.C1419T:p.T473T,ZNF26:NM_019591:exon4:c.C1515T:p.T505T,ZNF26:NM_001256279:exon5:c.C1614T:p.T538T,ZNF26:NM_001330513:exon5:c.C1455T:p.T485T,ZNF26:NM_001330514:exon5:c.C1455T:p.T485T RS3825108 HOMA-B
12 133634450 2 ZNF84 A C exonic synonymous SNV ZNF84:NM_001127372:exon5:c.A1149C:p.A383A,ZNF84:NM_001289971:exon5:c.A1149C:p.A383A,ZNF84:NM_001289972:exon5:c.A1149C:p.A383A,ZNF84:NM_003428:exon5:c.A1149C:p.A383A RS623100 Rheumatoid arthritis:Essential hypertension
12 149931106 2
12 153222835 2
13 20398669 2 ZMYM5 T C exonic nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.A1958G:p.H653R RS9508907 HDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Neuroblastoma (brain cancer):Gene expression of MPHOSPH8 in blood:Age at death with kuru exposure
13 20398742 2 ZMYM5 C T exonic nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.G1885A:p.V629I RS9508908 HDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Autism:Neuroblastoma (brain cancer):Gene expression of MPHOSPH8 in blood:Age at death with kuru exposure:Transmission distortion:Paternal transmission distortion
13 21154426 1
13 21205192 2 IFT88 G A exonic nonsynonymous SNV IFT88:NM_001318491:exon15:c.G1280A:p.S427N,IFT88:NM_006531:exon16:c.G1337A:p.S446N,IFT88:NM_001318493:exon17:c.G1364A:p.S455N,IFT88:NM_175605:exon18:c.G1364A:p.S455N RS9509307 HDL cholesterol:Gene expression of IFT88 [probe 3480411] in peripheral blood mononuclear cells:HDL cholesterol:Cystatin C in serum:Partial epilepsy:Gene expression of TTC10 in CD4+ lymphocytes:Gene expression of RP11-261P13.2 in blood:Gene expression of IFT88 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Years of education
13 21562832 2 LATS2 C T exonic nonsynonymous SNV LATS2:NM_014572:exon4:c.G1087A:p.G363S
13 21732094 2 SKA3 C T exonic synonymous SNV SKA3:NM_001166017:exon7:c.G1086A:p.P362P,SKA3:NM_145061:exon7:c.G1086A:p.P362P RS4770121 HDL cholesterol:Maternal transmission distortion
13 23911748 2 SACS C T exonic synonymous SNV SACS:NM_001278055:exon8:c.G5826A:p.S1942S,SACS:NM_014363:exon10:c.G6267A:p.S2089S
13 23913827 2 SACS G A exonic synonymous SNV SACS:NM_001278055:exon8:c.C3747T:p.H1249H,SACS:NM_014363:exon10:c.C4188T:p.H1396H
13 24243200 2 TNFRSF19 T C exonic synonymous SNV TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G
13 24411772 2 MIPEP T C exonic nonsynonymous SNV MIPEP:NM_005932:exon13:c.A1462G:p.S488G
13 25008588 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4691C:p.I1564T RS1372085 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold
13 25008630 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4649C:p.L1550P RS1822135 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold
13 25008903 2 PARP4 G T exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.C4376A:p.S1459Y
13 25009099 2 PARP4 A C exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4180G:p.S1394A RS9511259 Spine bone mineral density (BMD):Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Partial epilepsy:Systolic blood pressure (SBP):PROP taste detection threshold
13 25021200 2 PARP4 A C exonic nonsynonymous SNV PARP4:NM_006437:exon26:c.T3239G:p.L1080R
13 25027744 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon23:c.T2807C:p.M936T RS4770684 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder (males):Recurrent early onset major depressive disorder:Systolic blood pressure (SBP)
13 30091819 2 SLC7A1 G C exonic synonymous SNV SLC7A1:NM_003045:exon10:c.C1401G:p.G467G RS2482090 Serum creatinine:Mitral annular calcium
13 31036681 2 HMGB1 A G exonic synonymous SNV HMGB1:NM_001313892:exon4:c.T465C:p.Y155Y,HMGB1:NM_001313893:exon4:c.T465C:p.Y155Y,HMGB1:NM_002128:exon4:c.T465C:p.Y155Y
13 32913055 2 BRCA2 A G exonic synonymous SNV BRCA2:NM_000059:exon11:c.A4563G:p.L1521L RS206075 LDL cholesterol:Total cholesterol
13 32915005 2 BRCA2 G C exonic synonymous SNV BRCA2:NM_000059:exon11:c.G6513C:p.V2171V
13 35615135 2 NBEA T C exonic synonymous SNV NBEA:NM_015678:exon2:c.T360C:p.C120C
13 35615150 2 NBEA G A exonic synonymous SNV NBEA:NM_015678:exon2:c.G375A:p.L125L
13 35615184 2 NBEA T G exonic nonsynonymous SNV NBEA:NM_015678:exon2:c.T409G:p.W137G
13 41705495 2 KBTBD6 A G exonic synonymous SNV KBTBD6:NM_152903:exon1:c.T1153C:p.L385L
13 41902939 2 NAA16 T C exonic synonymous SNV NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N RS3812896 HOMA-B:College completion:Adiponectin levels
13 46108853 2 COG3 T C exonic nonsynonymous SNV COG3:NM_031431:exon23:c.T2474C:p.L825S
13 46108854 2 COG3 G A exonic synonymous SNV COG3:NM_031431:exon23:c.G2475A:p.L825L
13 47260054 2 LRCH1 T C exonic nonsynonymous SNV LRCH1:NM_001164211:exon5:c.T700C:p.S234P,LRCH1:NM_001164213:exon5:c.T700C:p.S234P,LRCH1:NM_015116:exon5:c.T700C:p.S234P RS842381 Infant head circumference
13 47308109 2 LRCH1 A G exonic synonymous SNV LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A
13 48547467 2 SUCLA2 A T exonic nonsynonymous SNV SUCLA2:NM_003850:exon5:c.T595A:p.S199T RS7320366 Simpson-Angus Scale:Total cholesterol:HDL cholesterol change with statins:Gene expression of SUCLA2 (probeID ILMN_2150019) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SUCLA2 (probeID ILMN_2150019) in temporal cortex in Alzheimer's disease cases and controls
13 50283819 2 KPNA3 T C exonic synonymous SNV KPNA3:NM_002267:exon12:c.A921G:p.A307A RS17073322 LDL cholesterol
13 50296115 2 KPNA3 C T exonic synonymous SNV KPNA3:NM_002267:exon9:c.G702A:p.P234P RS1127021 HDL cholesterol:Fat mass change (kg/y) in children
13 53035783 2 CKAP2 T C exonic synonymous SNV CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T
13 53035925 2 CKAP2 A G exonic nonsynonymous SNV CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V
13 73301728 2 MZT1 T C exonic nonsynonymous SNV MZT1:NM_001071775:exon1:c.A13G:p.S5G
13 75884216 2 TBC1D4 C T exonic nonsynonymous SNV TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I RS1062087 Partial epilepsy:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 75936519 2 TBC1D4 C G exonic synonymous SNV TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G
13 76378459 2 LMO7 T C exonic synonymous SNV LMO7:NM_001306080:exon8:c.T696C:p.F232F,LMO7:NM_005358:exon9:c.T852C:p.F284F RS625033 LDL cholesterol
13 76397731 1 LMO7 G A exonic nonsynonymous SNV LMO7:NM_015842:exon12:c.G1972A:p.V658I,LMO7:NM_001330583:exon13:c.G1972A:p.V658I,LMO7:NM_005358:exon14:c.G1825A:p.V609I,LMO7:NM_001306080:exon15:c.G2671A:p.V891I RS4884021 LDL cholesterol:Cystatin C in serum:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
13 76423248 1 LMO7 T C exonic nonsynonymous SNV LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_001330583:exon25:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T,LMO7:NM_001306080:exon27:c.T4184C:p.M1395T RS7986131 Eye color:Triglycerides:Late onset Alzheimer's disease:College completion:Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 77574983 1 CLN5 A G exonic nonsynonymous SNV CLN5:NM_006493:exon4:c.A1103G:p.K368R RS1800209 Rheumatoid arthritis:Triglycerides change with statins:HDL cholesterol:Microalbuminuria:Child behavior checklist dysregulation profile in children with attention deficit/hyperactivity disorder (ADHD)
13 96638636 2 UGGT2 A C exonic nonsynonymous SNV UGGT2:NM_020121:exon9:c.T982G:p.S328A RS816142 Childhood acute lymphoblastic leukemia:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Gene expression of UGCGL2 in peripheral blood monocytes:HDL cholesterol:Height
13 99100547 2 FARP1 T C exonic synonymous SNV FARP1:NM_005766:exon27:c.T3114C:p.S1038S,FARP1:NM_001286839:exon28:c.T3207C:p.S1069S RS12261 Spine bone mineral density (BMD):Total cholesterol:Suicide attempts in bipolar disorder:Gene expression of STK24 in blood:Parkinson's disease:College completion:Years of education:Salmonella-induced pyroptosis:Refractive error
13 99112680 2 STK24 C T exonic synonymous SNV STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P
13 100518580 2 CLYBL A G exonic nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V RS3783185 Irritible bowel syndrome:Rheumatoid arthritis:Schizophrenia:Fasting blood glucose:Gene expression of CLYBL in peripheral blood monocytes:Gene expression of ZNF768 in peripheral blood monocytes:Gene expression of XPA in peripheral blood monocytes:Autism:Gene expression of CLYBL in blood:Birth weight:Primary rhegmatogenous retinal detachment
13 101287340 2 TMTC4 C T exonic nonsynonymous SNV TMTC4:NM_001286453:exon8:c.G922A:p.V308I,TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_001350577:exon10:c.G1249A:p.V417I,TMTC4:NM_001350572:exon11:c.G1255A:p.V419I,TMTC4:NM_001350574:exon11:c.G1429A:p.V477I,TMTC4:NM_001350576:exon11:c.G1306A:p.V436I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001350571:exon12:c.G1486A:p.V496I RS946837 Gene expression of TMTC4 [probe 1554101_a_at] in lymphoblastoid cell lines:Gene expression of TMTC4 [probe 1554102_a_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene expression of TMTC4 in CD4+ lymphocytes:Gene expression of TMTC4 in blood:Gene expression of TMTC4 [probeset 1554102_a_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMTC4 in normal prepouch ileum:Hypertension (early onset hypertension):Years of education
13 101287365 2 TMTC4 T C exonic synonymous SNV TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A RS946838 LDL cholesterol change with statins:Total cholesterol change with statins:Mitral annular calcium
13 103527849 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R
13 103527930 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R
13 111176393 2 RAB20 A G exonic synonymous SNV RAB20:NM_017817:exon2:c.T324C:p.F108F RS419244 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Premature ovarian failure:Fasting blood glucose:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold
13 111319754 2 CARS2 T C exonic synonymous SNV CARS2:NM_024537:exon8:c.A852G:p.E284E
13 111870037 2 ARHGEF7 T C exonic synonymous SNV ARHGEF7:NM_001320851:exon3:c.T9C:p.D3D,ARHGEF7:NM_001330598:exon3:c.T9C:p.D3D,ARHGEF7:NM_001113512:exon4:c.T393C:p.D131D,ARHGEF7:NM_001113513:exon4:c.T9C:p.D3D,ARHGEF7:NM_001320853:exon4:c.T234C:p.D78D,ARHGEF7:NM_003899:exon4:c.T9C:p.D3D,ARHGEF7:NM_001320852:exon5:c.T480C:p.D160D,ARHGEF7:NM_001330597:exon5:c.T9C:p.D3D,ARHGEF7:NM_145735:exon5:c.T480C:p.D160D,ARHGEF7:NM_001113511:exon6:c.T543C:p.D181D RS2296354 Eye color:Schizophrenia:HOMA-B:HOMA-IR:Fasting insulin:Gene expression of ARHGEF7 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of ARHGEF7 in blood:Diastolic blood pressure (DBP):Gene expression of ARHGEF7 (probeID ILMN_1796912) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ARHGEF7 (probeID ILMN_1796912) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium
13 113479820 2 ATP11A A G exonic nonsynonymous SNV ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V RS368865 Eye color:Stabilized warfarin dose:Rheumatoid arthritis:Triglycerides change with statins:Total cholesterol change with statins:Maternal transmission distortion:Transmission distortion
13 113965176 2 LAMP1 C A exonic synonymous SNV LAMP1:NM_005561:exon4:c.C556A:p.R186R RS9577503 Cystatin C in serum
14 20824181 1 PARP2 T C exonic synonymous SNV PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y RS3093930 Longstanding arthritis:LDL cholesterol:Differential exon level expression of PARP2 [probe 3527423] in brain cortex:Gene expression of RPPH1 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Gene expression of TTC5 in blood:Obesity with early age of onset (age >2)
14 20852029 1 TEP1 A G exonic nonsynonymous SNV TEP1:NM_001319035:exon23:c.T3259C:p.S1087P,TEP1:NM_007110:exon25:c.T3583C:p.S1195P RS1760904 Differential exon level expression of PARP2 [probe 3527423] in brain cortex:Gene expression of CCNB1IP1 in blood:Bipolar disorder
14 20852817 1 TEP1 G A exonic nonsynonymous SNV TEP1:NM_001319035:exon20:c.C2839T:p.R947C,TEP1:NM_007110:exon22:c.C3163T:p.R1055C RS1760903 Bipolar disorder
14 20854734 2 TEP1 A G exonic synonymous SNV TEP1:NM_001319035:exon17:c.T2409C:p.H803H,TEP1:NM_007110:exon19:c.T2733C:p.H911H RS945011 Cystatin C in serum
14 20920250 1 OSGEP T C exonic synonymous SNV OSGEP:NM_017807:exon3:c.A294G:p.Q98Q RS2275007 Gene expression of NP///APEX1///TMEM55B in blood:Gene expression of OSGEP in blood:PROP taste detection threshold:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Gene expression of OSGEP (probeID ILMN_1753393) in cerebellum in Alzheimer's disease cases and controls:Gene expression of OSGEP (probeID ILMN_1753393) in temporal cortex in Alzheimer's disease cases and controls:Birth weight
14 21899631 1 CHD8 C T exonic nonsynonymous SNV CHD8:NM_001170629:exon1:c.G172A:p.V58M RS10467770 Arthritis including non-Rheumatoid:LDL cholesterol change with statins:Birth weight:Primary rhegmatogenous retinal detachment:Gene expression change of SALL2 (ENSG00000165821) in dendritic cells after treatment with Mycobacterium tuberculosis
14 23242828 2 SLC7A7 T C exonic synonymous SNV SLC7A7:NM_001126105:exon11:c.A1527G:p.K509K,SLC7A7:NM_001126106:exon11:c.A1527G:p.K509K RS1061040 LDL cholesterol:LDL cholesterol:Total cholesterol:Age at death with kuru exposure:Refractive error
14 23282449 2 SLC7A7 C T exonic synonymous SNV SLC7A7:NM_001126105:exon3:c.G159A:p.S53S,SLC7A7:NM_001126106:exon3:c.G159A:p.S53S RS1805059 PROP taste detection threshold:Mitral annular calcium
14 23306048 2 MMP14 C T exonic nonsynonymous SNV MMP14:NM_004995:exon1:c.C22T:p.P8S RS1042703 Fasting blood glucose:HOMA-IR:Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:PROP taste detection threshold
14 23530622 1 ACIN1 T C exonic synonymous SNV ACIN1:NM_001164816:exon10:c.A1302G:p.S434S,ACIN1:NM_001164817:exon11:c.A1209G:p.S403S,ACIN1:NM_001164815:exon16:c.A3363G:p.S1121S,ACIN1:NM_001164814:exon17:c.A3444G:p.S1148S,ACIN1:NM_014977:exon17:c.A3483G:p.S1161S
14 23549319 1 ACIN1 A G exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.T1279C:p.S427P,ACIN1:NM_001164814:exon6:c.T1399C:p.S467P,ACIN1:NM_014977:exon6:c.T1399C:p.S467P RS1885097 HDL cholesterol:Gene expression of SNTB1 in peripheral blood monocytes:HDL cholesterol:Height:Parkinson's disease
14 23549379 2 ACIN1 C G exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.G1219C:p.A407P,ACIN1:NM_001164814:exon6:c.G1339C:p.A447P,ACIN1:NM_014977:exon6:c.G1339C:p.A447P
14 23549785 1 ACIN1 T C exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A813G:p.I271M,ACIN1:NM_001164814:exon6:c.A933G:p.I311M,ACIN1:NM_014977:exon6:c.A933G:p.I311M RS3811182 HDL cholesterol:Triglycerides:HOMA-B:Parkinson's disease
14 23777374 2 BCL2L2;BCL2L2-PABPN1 A G exonic nonsynonymous SNV BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R RS910332 Systolic blood pressure (SBP):Birth weight
14 23944505 2 NGDN G A exonic synonymous SNV NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V RS2236260 Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis
14 23944514 2 NGDN C A exonic synonymous SNV NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R
14 24424346 1 DHRS4 G A exonic synonymous SNV DHRS4:NM_001282987:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282988:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282989:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282990:exon2:c.G231A:p.Q77Q,DHRS4:NM_001282991:exon2:c.G231A:p.Q77Q,DHRS4:NM_021004:exon2:c.G231A:p.Q77Q
14 24458162 2 DHRS4L2 G C exonic nonsynonymous SNV DHRS4L2:NM_198083:exon1:c.G6C:p.Q2H
14 24567498 2 PCK2 A C exonic nonsynonymous SNV PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P
14 24587667 1 DCAF11 C T exonic synonymous SNV DCAF11:NM_001163484:exon7:c.C648T:p.D216D,DCAF11:NM_025230:exon7:c.C648T:p.D216D,DCAF11:NM_181357:exon7:c.C570T:p.D190D RS17101367 Mitral annular calcium
14 24649669 1 IPO4 C T exonic synonymous SNV IPO4:NM_024658:exon30:c.G3225A:p.Q1075Q RS2273912 Childhood acute lymphoblastic leukemia:Gene expression of IPO4 in peripheral blood monocytes:College completion:Years of education
14 24654489 1 IPO4 T C exonic synonymous SNV IPO4:NM_024658:exon14:c.A1308G:p.V436V RS2025258 Differential exon level expression of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Total cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Birth weight:Tetrology of fallot:College completion:Years of education
14 24702789 1 GMPR2 C T exonic synonymous SNV GMPR2:NM_001283022:exon2:c.C246T:p.A82A,GMPR2:NM_016576:exon2:c.C246T:p.A82A,GMPR2:NM_001002000:exon3:c.C192T:p.A64A,GMPR2:NM_001002001:exon3:c.C192T:p.A64A,GMPR2:NM_001002002:exon3:c.C192T:p.A64A,GMPR2:NM_001283023:exon3:c.C192T:p.A64A,GMPR2:NM_001351022:exon3:c.C192T:p.A64A,GMPR2:NM_001351023:exon3:c.C192T:p.A64A
14 24901276 2 KHNYN G T exonic nonsynonymous SNV KHNYN:NM_001290256:exon3:c.G932T:p.W311L,KHNYN:NM_001290257:exon3:c.G809T:p.W270L,KHNYN:NM_015299:exon3:c.G809T:p.W270L RS7151995 Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 31582380 2 HECTD1 A G exonic nonsynonymous SNV HECTD1:NM_015382:exon34:c.T6080C:p.L2027P
14 31582526 1 HECTD1 T C exonic synonymous SNV HECTD1:NM_015382:exon33:c.A6021G:p.L2007L RS2273483 Total cholesterol:Body mass index (BMI):Gene expression of AP4S1 [transcript NM_007077, probe A_24_P12281] in liver:College completion:Prostate cancer
14 31598248 1 HECTD1 A G exonic synonymous SNV HECTD1:NM_015382:exon25:c.T4329C:p.S1443S RS17097743 LDL cholesterol:Aortic valve calcium:Parkinson's disease
14 31647241 1 HECTD1 G A exonic synonymous SNV HECTD1:NM_015382:exon3:c.C360T:p.A120A RS2274201 Premature ovarian failure:Lp-PLA2 activity:Prostate cancer
14 31864485 2 HEATR5A G C exonic nonsynonymous SNV HEATR5A:NM_015473:exon5:c.C517G:p.P173A
14 35062312 2 SNX6 C T exonic synonymous SNV SNX6:NM_021249:exon7:c.G309A:p.E103E,SNX6:NM_152233:exon8:c.G693A:p.E231E RS12432539 Paternal transmission distortion:Salmonella-induced pyroptosis
14 35592538 1 KIAA0391 C G exonic synonymous SNV KIAA0391:NM_001256678:exon2:c.C87G:p.V29V,KIAA0391:NM_014672:exon2:c.C87G:p.V29V RS941653 Rheumatoid arthritis:College completion:Years of education
14 36789729 2 MBIP T G exonic nonsynonymous SNV MBIP:NM_001144891:exon1:c.A66C:p.R22S,MBIP:NM_001308110:exon1:c.A66C:p.R22S,MBIP:NM_016586:exon1:c.A66C:p.R22S RS3168891 Triglycerides change with statins
14 36789775 2 MBIP A T exonic nonsynonymous SNV MBIP:NM_001144891:exon1:c.T20A:p.L7H,MBIP:NM_001308110:exon1:c.T20A:p.L7H,MBIP:NM_016586:exon1:c.T20A:p.L7H RS2899849 Triglycerides change with statins
14 38061742 2 FOXA1 C T exonic nonsynonymous SNV FOXA1:NM_004496:exon2:c.G247A:p.A83T RS7144658 Rheumatoid arthritis:Gene expression of FOXA1 in CD4+ lymphocytes:Plasma renin activity
14 39517925 1 SEC23A T C exonic synonymous SNV SEC23A:NM_006364:exon15:c.A1668G:p.K556K RS12895000 Triglycerides:Total cholesterol:LDL cholesterol:Triglycerides:Systolic blood pressure (SBP)
14 39556185 1 SEC23A G C exonic nonsynonymous SNV SEC23A:NM_006364:exon6:c.C631G:p.L211V RS8018720 Tardive dyskinesia:Simpson-Angus Scale:Rheumatoid arthritis:Aortic valve calcium
14 39722023 1 MIA2 G C exonic nonsynonymous SNV MIA2:NM_001329214:exon5:c.G1639C:p.D547H,MIA2:NM_054024:exon5:c.G1639C:p.D547H RS10134365 LDL cholesterol change with statins:LDL cholesterol change with statins:Total cholesterol change with statins:Lp-PLA2 mass:Waist hip ratio:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):College completion
14 50251369 2 NEMF A G exonic synonymous SNV NEMF:NM_001301732:exon32:c.T3153C:p.N1051N,NEMF:NM_004713:exon33:c.T3216C:p.N1072N
14 50298962 2 NEMF T A exonic nonsynonymous SNV NEMF:NM_001301732:exon9:c.A769T:p.S257C,NEMF:NM_004713:exon9:c.A769T:p.S257C
14 50769717 1 L2HGDH G A exonic synonymous SNV L2HGDH:NM_024884:exon2:c.C159T:p.I53I RS2297995 Methylation levels at chr14:49849865-49849915 [hg18 coord, probe cg15996947] in Temporal cortex:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in Alzheimer's disease cases and controls:Gene expression of L2HGDH in normal prepouch ileum:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 50778816 1 L2HGDH A C exonic nonsynonymous SNV L2HGDH:NM_024884:exon1:c.T53G:p.L18R RS2275591 Gene expression of C14orf138 [probe 237640_at] in lymphoblastoid cell lines:Gene expression of ATP5S [probe 206993_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of CDKL1 in CD4+ lymphocytes:Gene expression of ATP5S in blood:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal cortex in Alzheimer's disease cases and controls:Primary rhegmatogenous retinal detachment:Gene expression of L2HGDH in normal prepouch ileum
14 51239067 2 NIN C G exonic synonymous SNV NIN:NM_016350:exon9:c.G933C:p.L311L,NIN:NM_020921:exon9:c.G933C:p.L311L,NIN:NM_182944:exon9:c.G933C:p.L311L,NIN:NM_182946:exon9:c.G933C:p.L311L
14 51383432 2 PYGL G A exonic synonymous SNV PYGL:NM_001163940:exon8:c.C918T:p.D306D,PYGL:NM_002863:exon9:c.C1020T:p.D340D RS2075643 Serum creatinine:Gene expression of PYGL (ENSG00000100504) in dendritic cells
14 51446216 2 TRIM9 T G exonic nonsynonymous SNV TRIM9:NM_015163:exon9:c.A1959C:p.L653F RS2275462 Late onset Alzheimer's disease:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
14 51716467 2 TMX1 G A exonic synonymous SNV TMX1:NM_030755:exon7:c.G648A:p.P216P
14 52478315 2 NID2 A G exonic synonymous SNV NID2:NM_007361:exon17:c.T3507C:p.A1169A RS1051069 Triglycerides:Triglycerides:HDL cholesterol:Sporadic Creutzfeldt-Jakob disease
14 52507429 2 NID2 A G exonic nonsynonymous SNV NID2:NM_007361:exon8:c.T1966C:p.S656P RS3742536 Triglycerides:Height:Primary rhegmatogenous retinal detachment:Birth weight
14 52535648 2 NID2 G T exonic nonsynonymous SNV NID2:NM_007361:exon1:c.C65A:p.P22Q RS3920038 Schizophrenia:Total cholesterol:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease
14 52906081 1 TXNDC16 T G exonic synonymous SNV TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R RS2249922 Barnes Akathisia Rating Scale:HDL cholesterol:Serum creatinine:Lp-PLA2 activity:Gene expression of ERO1L in peripheral blood monocytes:Triglycerides:Paternal transmission distortion
14 52907353 1 TXNDC16 C T exonic synonymous SNV TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q RS1952254 HDL cholesterol:Serum creatinine:Triglycerides
14 55643908 1 DLGAP5 A G exonic synonymous SNV DLGAP5:NM_001146015:exon8:c.T921C:p.F307F,DLGAP5:NM_014750:exon8:c.T921C:p.F307F RS10144326 Hip bone mineral density (BMD):Height:Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease:Circulating galectin-3 levels
14 55655692 1 DLGAP5 C T exonic nonsynonymous SNV DLGAP5:NM_001146015:exon2:c.G206A:p.G69E,DLGAP5:NM_014750:exon2:c.G206A:p.G69E RS2274271 LDL cholesterol change with statins:Height:Parkinson's disease:Circulating galectin-3 levels
14 58937416 2 KIAA0586 T C exonic nonsynonymous SNV KIAA0586:NM_001244193:exon14:c.T2108C:p.L703P,KIAA0586:NM_014749:exon16:c.T2300C:p.L767P,KIAA0586:NM_001244191:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329943:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329944:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329945:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329946:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329947:exon17:c.T2528C:p.L843P,KIAA0586:NM_001244190:exon18:c.T2483C:p.L828P,KIAA0586:NM_001244192:exon18:c.T2396C:p.L799P,KIAA0586:NM_001244189:exon19:c.T2687C:p.L896P
14 58953746 2 KIAA0586 C G exonic nonsynonymous SNV KIAA0586:NM_001244193:exon19:c.C2746G:p.P916A,KIAA0586:NM_014749:exon21:c.C2938G:p.P980A,KIAA0586:NM_001244191:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329943:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329944:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329945:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329946:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329947:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001244190:exon23:c.C3121G:p.P1041A,KIAA0586:NM_001244192:exon23:c.C3034G:p.P1012A,KIAA0586:NM_001244189:exon24:c.C3325G:p.P1109A
14 59797235 2 DAAM1 A G exonic synonymous SNV DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q RS941884 Triglycerides:Triglycerides change with statins:Total cholesterol:Height:Waist hip ratio
14 59939727 1 L3HYPDH T C exonic nonsynonymous SNV L3HYPDH:NM_001331158:exon5:c.A508G:p.I170V,L3HYPDH:NM_001331159:exon5:c.A508G:p.I170V,L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V RS8660 Gene expression of C14orf149 [probe 3566949] in peripheral blood mononuclear cells:Gene expression of C14orf100 probe [GI_21361536-S] in brain cortex with no Alzheimer's interaction:Premature ovarian failure:Gene expression of UBTD2 in peripheral blood monocytes:Gene expression of DAAM1 in blood:Variant Creutzfeldt-Jakob disease:Parkinson's disease:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Alzheimer's disease cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in non-Alzheimer's disease samples:Gene expression of GPR135 in normal prepouch ileum:Gene expression of C14orf38 in normal prepouch ileum:Obsessive-compulsive disorder (OCD)
14 59950690 1 L3HYPDH A C exonic synonymous SNV L3HYPDH:NM_001331164:exon1:c.T345G:p.A115A,L3HYPDH:NM_144581:exon1:c.T345G:p.A115A RS2296842 Gene expression of C14orf100 in CEU-CHB-JPT lymphoblastoid cell lines:Height:Adiponectin levels
14 60581863 2 PCNX4 G A exonic synonymous SNV PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P RS219314 Triglycerides change with statins:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60581935 2 PCNX4 C T exonic synonymous SNV PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S RS150687 Triglycerides change with statins:PROP taste detection threshold:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60582053 2 PCNX4 G A exonic nonsynonymous SNV PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I RS150688 Triglycerides change with statins:Gene expression of C14orf135 (ENSG00000126773) in dendritic cells:Gene expression of DHRS7 in normal prepouch ileum
14 61445967 2 TRMT5 A G exonic nonsynonymous SNV TRMT5:NM_001350253:exon2:c.T733C:p.S245P,TRMT5:NM_001350254:exon2:c.T730C:p.S244P,TRMT5:NM_020810:exon2:c.T649C:p.S217P
14 65008251 2 HSPA2 C T exonic synonymous SNV HSPA2:NM_021979:exon1:c.C684T:p.D228D RS1063391 Acute lung injury following major trauma
14 66028446 2 FUT8 A G exonic synonymous SNV FUT8:NM_178156:exon2:c.A165G:p.Q55Q,FUT8:NM_178155:exon3:c.A165G:p.Q55Q RS2229677 Fasting insulin:HOMA-B:HDL cholesterol:Gene expression of FUT8 in blood:Desialylated Glycan Peak 6:Desialylated Glycan Peak 1:Glycan Peak 10:Glycan Peak 10 in women:Mitral annular calcium:IGP42:IGP2
14 69703158 2 EXD2 A G exonic synonymous SNV EXD2:NM_018199:exon6:c.A816G:p.L272L,EXD2:NM_001193361:exon7:c.A1191G:p.L397L,EXD2:NM_001193363:exon7:c.A1191G:p.L397L,EXD2:NM_001193360:exon8:c.A1191G:p.L397L,EXD2:NM_001193362:exon8:c.A1191G:p.L397L RS3211166 Gene expression of WDR22 [probe 1554558_at] in lymphoblastoid cell lines:Total cholesterol:Autism with high IQ:Urinary albumin-to-creatinine ratio:College completion:Advanced age-related macular degeneration:Years of education
14 69704553 2 EXD2 G T exonic nonsynonymous SNV EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H RS8007859 Years of education:College completion
14 72055468 2 SIPA1L1 A C exonic synonymous SNV SIPA1L1:NM_001284247:exon1:c.A879C:p.S293S,SIPA1L1:NM_001284245:exon2:c.A879C:p.S293S,SIPA1L1:NM_001284246:exon2:c.A879C:p.S293S,SIPA1L1:NM_015556:exon2:c.A879C:p.S293S RS1859643 Fasting insulin:Bipolar disorder in alcoholics:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Refractive error
14 72117156 2 SIPA1L1 T C exonic synonymous SNV SIPA1L1:NM_001284247:exon4:c.T1923C:p.F641F,SIPA1L1:NM_001284245:exon5:c.T1923C:p.F641F,SIPA1L1:NM_001284246:exon5:c.T1923C:p.F641F,SIPA1L1:NM_015556:exon5:c.T1923C:p.F641F RS8017465 Spine bone mineral density (BMD):Suicide attempts in bipolar disorder (females):Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
14 74061968 2 ACOT4 T C exonic synonymous SNV ACOT4:NM_152331:exon3:c.T876C:p.I292I RS2010070 Comorbid depressive syndrome and alcohol dependence:Adiponectin levels:Gene expression of HEATR4 (probeID ILMN_1765198) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HEATR4 (probeID ILMN_1765198) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HEATR4 in normal prepouch ileum
14 74206481 2 ELMSAN1 T C exonic synonymous SNV ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,ELMSAN1:NM_194278:exon2:c.A231G:p.V77V RS758774 PROP taste detection threshold
14 75359670 2 DLST G A exonic synonymous SNV DLST:NM_001933:exon8:c.G576A:p.Q192Q
14 75513883 2 MLH3 T C exonic nonsynonymous SNV MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D
14 77745193 2 POMT2 A C exonic synonymous SNV POMT2:NM_013382:exon19:c.T1911G:p.L637L RS3209079 Total cholesterol:LDL cholesterol:Gene expression of POMT2 (ENSG00000009830) in dendritic cells treated with Mycobacterium tuberculosis
14 77751925 2 POMT2 C T exonic synonymous SNV POMT2:NM_013382:exon13:c.G1383A:p.R461R RS2270419 Fasting blood glucose:Obesity with early age of onset (age >2)
14 77794283 2 GSTZ1 T C exonic nonsynonymous SNV GSTZ1:NM_145870:exon5:c.T245C:p.M82T,GSTZ1:NM_001312660:exon6:c.T80C:p.M27T RS1046428 Irritible bowel syndrome:Gene expression of C14orf174 in CD4+ lymphocytes:Gene expression of C14orf133 in blood:Variant Creutzfeldt-Jakob disease
14 77926011 2 AHSA1 C T exonic synonymous SNV AHSA1:NM_012111:exon2:c.C133T:p.L45L RS1061629 Total cholesterol:Triglycerides:HDL cholesterol:College completion:Gene expression of C14orf174 (ENSG00000100583) in dendritic cells treated with Mycobacterium tuberculosis
14 77928525 2 AHSA1 A G exonic synonymous SNV AHSA1:NM_012111:exon3:c.A294G:p.Q98Q RS1061638 Gene expression of TMED8 [probe 3573029] in peripheral blood mononuclear cells:Total cholesterol:Gene expression of C14orf133 in blood:Years of education
14 77935520 2 AHSA1 G A exonic synonymous SNV AHSA1:NM_001321441:exon9:c.G540A:p.T180T,AHSA1:NM_012111:exon9:c.G945A:p.T315T RS7250 Total cholesterol:Triglycerides:College completion
14 78028803 2 SPTLC2 A G exonic synonymous SNV SPTLC2:NM_004863:exon6:c.T786C:p.N262N RS2364602 Gene expression of GSTZ1 in blood
14 78174473 2 SLIRP A C exonic synonymous SNV SLIRP:NM_001267863:exon1:c.A19C:p.R7R,SLIRP:NM_001267864:exon1:c.A19C:p.R7R,SLIRP:NM_031210:exon1:c.A19C:p.R7R RS11159286 Chronic kidney disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 78184566 2 SNW1 C A exonic nonsynonymous SNV SNW1:NM_001318844:exon13:c.G1556T:p.C519F
14 78197365 2 SNW1 C T exonic synonymous SNV SNW1:NM_001318844:exon10:c.G999A:p.E333E,SNW1:NM_012245:exon10:c.G999A:p.E333E RS114763 HDL cholesterol change with statins:Methylation levels at chr14:77295292-77295342 [hg18 coord, probe cg13507326] in Temporal cortex:Methylation levels at chr14:77245223-77245273 [hg18 coord, probe cg20385229] in Temporal cortex:Methylation levels at chr14:77295292-77295342 [hg18 coord, probe cg13507326] in Caudal pons:Methylation levels at chr14:77295292-77295342 [hg18 coord, probe cg13507326] in Cerebellum:Methylation levels at chr14:77245223-77245273 [hg18 coord, probe cg20385229] in Caudal pons:Methylation levels at chr14:77245223-77245273 [hg18 coord, probe cg20385229] in Frontal cortex:Methylation levels at chr14:77295292-77295342 [hg18 coord, probe cg13507326] in Frontal cortex
14 88401213 2 GALC T C exonic nonsynonymous SNV GALC:NM_001201401:exon16:c.A1852G:p.T618A,GALC:NM_000153:exon17:c.A1921G:p.T641A,GALC:NM_001201402:exon17:c.A1843G:p.T615A
14 88407875 2 GALC T A exonic synonymous SNV GALC:NM_001201401:exon14:c.A1629T:p.V543V,GALC:NM_000153:exon15:c.A1698T:p.V566V,GALC:NM_001201402:exon15:c.A1620T:p.V540V
14 88411947 2 GALC T C exonic synonymous SNV GALC:NM_001201401:exon13:c.A1551G:p.T517T,GALC:NM_000153:exon14:c.A1620G:p.T540T,GALC:NM_001201402:exon14:c.A1542G:p.T514T
14 92441066 2 TRIP11 C T exonic nonsynonymous SNV TRIP11:NM_001321851:exon19:c.G5476A:p.G1826S,TRIP11:NM_004239:exon19:c.G5479A:p.G1827S RS1051340 Differential exon level expression of TRIP11 [probe 3576822] in peripheral blood mononuclear cells:Differential exon level expression of TRIP11 [probe 3576822] in brain cortex:Gene expression of FBLN5 in CD4+ lymphocytes:Gene expression of TRIP11 in CD4+ lymphocytes:Sporadic Creutzfeldt-Jakob disease
14 92537354 2 ATXN3 C G exonic nonsynonymous SNV ATXN3:NM_001164782:exon2:c.G68C:p.G23A,ATXN3:NM_001164774:exon3:c.G233C:p.G78A,ATXN3:NM_001164777:exon3:c.G113C:p.G38A,ATXN3:NM_001164776:exon4:c.G278C:p.G93A,ATXN3:NM_001164778:exon6:c.G431C:p.G144A,ATXN3:NM_001164779:exon6:c.G553C:p.G185R,ATXN3:NM_001164780:exon7:c.G379C:p.G127R,ATXN3:NM_001127697:exon8:c.G763C:p.G255R,ATXN3:NM_001164781:exon8:c.G706C:p.G236R,ATXN3:NM_001127696:exon9:c.G871C:p.G291R,ATXN3:NM_030660:exon9:c.G751C:p.G251R,ATXN3:NM_004993:exon10:c.G916C:p.G306R
14 92548785 2 ATXN3 C T exonic nonsynonymous SNV ATXN3:NM_001164779:exon4:c.G271A:p.V91M,ATXN3:NM_001164780:exon5:c.G97A:p.V33M,ATXN3:NM_001127697:exon6:c.G481A:p.V161M,ATXN3:NM_001164781:exon6:c.G424A:p.V142M,ATXN3:NM_001127696:exon7:c.G589A:p.V197M,ATXN3:NM_030660:exon7:c.G469A:p.V157M,ATXN3:NM_004993:exon8:c.G634A:p.V212M RS1048755 Height:Stabilized warfarin dose:Schizophrenia:Differential exon level expression of TRIP11 [probe 3576822] in peripheral blood mononuclear cells:Differential exon level expression of TRIP11 [probe 3576822] in brain cortex:Tardive dyskinesia:HDL cholesterol:Height:Body mass index (BMI):Gene expression of AL049872.3 in blood:Gene expression of ATXN3 in blood:Gene expression of FBLN5 in blood:Gene expression of TRIP11 in blood:Sporadic Creutzfeldt-Jakob disease:Mitral annular calcium:All antimicrotubule drugs-induced neutropenia/leukopenia in cancer patients
14 93178191 2 LGMN A G exonic synonymous SNV LGMN:NM_005606:exon9:c.T720C:p.D240D,LGMN:NM_001008530:exon10:c.T720C:p.D240D
14 96771959 2 ATG2B A G exonic nonsynonymous SNV ATG2B:NM_018036:exon31:c.T4700C:p.I1567T RS2289622 Eye color:Aortic valve calcium
14 100847523 2 WDR25 T C exonic nonsynonymous SNV WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R
14 102550803 2 HSP90AA1 G A exonic synonymous SNV HSP90AA1:NM_005348:exon6:c.C1080T:p.N360N,HSP90AA1:NM_001017963:exon7:c.C1446T:p.N482N
14 102568296 2 HSP90AA1 G A exonic synonymous SNV HSP90AA1:NM_001017963:exon2:c.C282T:p.T94T RS10873531 LDL cholesterol:2 hour glucose:Serum creatinine:Body mass index (BMI):Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy)
14 102802129 1 ZNF839 G A exonic nonsynonymous SNV ZNF839:NM_001267827:exon5:c.G1265A:p.S422N,ZNF839:NM_001267828:exon5:c.G1265A:p.S422N,ZNF839:NM_018335:exon5:c.G1613A:p.S538N
14 102802145 1 ZNF839 C T exonic synonymous SNV ZNF839:NM_001267827:exon5:c.C1281T:p.S427S,ZNF839:NM_001267828:exon5:c.C1281T:p.S427S,ZNF839:NM_018335:exon5:c.C1629T:p.S543S
14 103934488 2 MARK3 T C exonic nonsynonymous SNV MARK3:NM_001128921:exon11:c.T992C:p.F331S,MARK3:NM_001128918:exon12:c.T1229C:p.F410S,MARK3:NM_001128919:exon12:c.T1229C:p.F410S,MARK3:NM_001128920:exon12:c.T1181C:p.F394S,MARK3:NM_002376:exon12:c.T1229C:p.F410S
14 103986255 2 CKB C T exonic synonymous SNV CKB:NM_001823:exon8:c.G1092A:p.E364E RS1803283 Serum creatinine:Cystatin C in serum:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Femoral neck bone mineral density (BMD):Gene expression of MARK3 in normal prepouch ileum:Mitral annular calcium:Lumbar spine bone mineral density (BMD)
14 103988180 2 CKB G T exonic synonymous SNV CKB:NM_001823:exon4:c.C456A:p.R152R
14 103996396 2 TRMT61A G A exonic synonymous SNV TRMT61A:NM_152307:exon2:c.G81A:p.A27A
14 104194196 2 ZFYVE21 C G exonic synonymous SNV ZFYVE21:NM_001198953:exon3:c.C303G:p.L101L,ZFYVE21:NM_024071:exon3:c.C303G:p.L101L RS1535100 Diastolic blood pressure (DBP)
14 105167807 2 INF2 C T exonic synonymous SNV INF2:NM_001031714:exon2:c.C105T:p.P35P,INF2:NM_022489:exon2:c.C105T:p.P35P,INF2:NM_032714:exon2:c.C105T:p.P35P
14 105179194 2 INF2 T C exonic synonymous SNV INF2:NM_001031714:exon18:c.T2640C:p.D880D,INF2:NM_022489:exon18:c.T2640C:p.D880D RS10133301 HDL cholesterol change with statins
14 105180565 2 INF2 T C exonic synonymous SNV INF2:NM_001031714:exon21:c.T3066C:p.D1022D,INF2:NM_022489:exon21:c.T3066C:p.D1022D
14 105609335 2 JAG2 A G exonic synonymous SNV JAG2:NM_145159:exon25:c.T3300C:p.I1100I,JAG2:NM_002226:exon26:c.T3414C:p.I1138I
14 105916420 2 MTA1 C T exonic synonymous SNV MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N RS4983409 Urinary albumin-to-creatinine ratio
14 105930406 2 MTA1 G A exonic nonsynonymous SNV MTA1:NM_001203258:exon13:c.G1114A:p.V372I,MTA1:NM_004689:exon13:c.G1114A:p.V372I RS4983413 Celiac disease:Stabilized warfarin dose:Premature ovarian failure:Barnes Akathisia Rating Scale:HOMA-IR:Fasting blood glucose:Fasting insulin:Partial epilepsy:Gene expression of PACS2 [transcript NM_015197, probe A_24_P255628] in liver:CRIP2 gene expression:Gene expression of CRIP2 in blood:Gene expression of CRIP2 (ENSG00000182809) in dendritic cells:Gene expression change of MTA1 (ENSG00000182979) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CRIP1 (ENSG00000213145) in dendritic cells:Gene expression change of CRIP2 (ENSG00000182809) in dendritic cells after treatment with Mycobacterium tuberculosis
14 153218365 2
15 21154466 2
15 28421681 1 HERC2 A G exonic synonymous SNV HERC2:NM_004667:exon63:c.T9579C:p.C3193C
15 28421707 1 HERC2 G A exonic synonymous SNV HERC2:NM_004667:exon63:c.C9553T:p.L3185L
15 28517436 1 HERC2 T C exonic synonymous SNV HERC2:NM_004667:exon9:c.A1008G:p.P336P
15 30008856 2 TJP1 C A exonic synonymous SNV TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_001301026:exon23:c.G3933T:p.A1311A,TJP1:NM_001330239:exon23:c.G4161T:p.A1387A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A,TJP1:NM_001301025:exon24:c.G4362T:p.A1454A
15 30008889 2 TJP1 G A exonic synonymous SNV TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_001301026:exon23:c.C3900T:p.A1300A,TJP1:NM_001330239:exon23:c.C4128T:p.A1376A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A,TJP1:NM_001301025:exon24:c.C4329T:p.A1443A RS2229518 Serum creatinine:HDL cholesterol:Triglycerides:Refractive error
15 31197564 2 FAN1 G A exonic nonsynonymous SNV FAN1:NM_001146094:exon2:c.G698A:p.G233E,FAN1:NM_001146095:exon2:c.G698A:p.G233E,FAN1:NM_001146096:exon2:c.G698A:p.G233E,FAN1:NM_014967:exon2:c.G698A:p.G233E RS4779794 Barnes Akathisia Rating Scale:Triglycerides change with statins:Nonalcoholic fatty liver disease (FibrosisYN):Cortisol secretion (cortisol AUC in females):Gene expression of [probe 7560669 centered at chr15:28959523] in blood:Gene expression of MTMR15 in blood:Gene expression of MTMR15///MTMR10 in blood:Gene expression of MTMR15 [probeset 203678_at] in sputum:Hypertension (early onset hypertension):Tetrology of fallot
15 31229420 2 FAN1 T C exonic synonymous SNV FAN1:NM_014967:exon14:c.T3015C:p.H1005H
15 35149008 2 AQR C T exonic synonymous SNV AQR:NM_014691:exon35:c.G4443A:p.P1481P
15 40226495 2 EIF2AK4 T C exonic synonymous SNV EIF2AK4:NM_001013703:exon1:c.T99C:p.I33I RS566792 Ischemic stroke:2 hour glucose:Fasting blood glucose:HDL cholesterol:Total cholesterol:Serum creatinine
15 40328575 2 SRP14 G C exonic nonsynonymous SNV SRP14:NM_003134:exon5:c.C370G:p.P124A,SRP14:NM_001309434:exon6:c.C226G:p.P76A RS7535 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
15 40330564 2 SRP14 C T exonic synonymous SNV SRP14:NM_003134:exon3:c.G129A:p.K43K
15 41105926 2 ZFYVE19 T G exonic nonsynonymous SNV ZFYVE19:NM_001258420:exon8:c.T922G:p.S308A,ZFYVE19:NM_001077268:exon9:c.T1126G:p.S376A,ZFYVE19:NM_001258421:exon9:c.T601G:p.S201A,ZFYVE19:NM_032850:exon10:c.T1096G:p.S366A RS690347 Gene expression of RAD51 [probe 3590086] in brain cortex:Differential exon level expression of ZFYVE19 [probe 3590153] in peripheral blood mononuclear cells:Gene expression of CHAC1 [transcript NM_024111, probe A_23_P14863] in liver:Gene expression of ZFYVE19 in blood:Gene expression of C15orf57 in normal prepouch ileum
15 41148199 2 SPINT1 C T exonic synonymous SNV SPINT1:NM_001032367:exon8:c.C1227T:p.Y409Y,SPINT1:NM_003710:exon9:c.C1227T:p.Y409Y,SPINT1:NM_181642:exon9:c.C1275T:p.Y425Y RS659232 Abnormal Involuntary Movement Scale:Gene expression of SPINT1 in peripheral blood monocytes:LDL cholesterol:Microalbuminuria:Gene expression of C15orf57 in normal prepouch ileum
15 41149161 2 SPINT1 G C exonic synonymous SNV SPINT1:NM_001032367:exon10:c.G1530C:p.T510T,SPINT1:NM_003710:exon11:c.G1530C:p.T510T,SPINT1:NM_181642:exon11:c.G1578C:p.T526T RS690458 LDL cholesterol:Microalbuminuria
15 41815516 2 RPAP1 G C exonic nonsynonymous SNV RPAP1:NM_015540:exon18:c.C2473G:p.Q825E
15 41991315 2 MGA A T exonic nonsynonymous SNV MGA:NM_001080541:exon5:c.A2146T:p.T716S,MGA:NM_001164273:exon5:c.A2146T:p.T716S RS2178004 Gene expression of MGA [probe 230848_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Diastolic blood pressure (DBP):Infant head circumference
15 42026764 2 MGA C T exonic synonymous SNV MGA:NM_001080541:exon12:c.C3888T:p.D1296D,MGA:NM_001164273:exon12:c.C3888T:p.D1296D RS1918314 Total cholesterol:Body mass index (BMI):Diastolic blood pressure (DBP):Infant head circumference
15 42041712 2 MGA G A exonic synonymous SNV MGA:NM_001080541:exon16:c.G5280A:p.K1760K,MGA:NM_001164273:exon17:c.G5907A:p.K1969K RS2695163 Total cholesterol:Body mass index (BMI):Hypertension (early onset hypertension):Infant head circumference
15 42570718 2 GANC A G exonic nonsynonymous SNV GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R,GANC:NM_001301409:exon4:c.A131G:p.Q44R RS8024732 Stabilized warfarin dose:Irritible bowel syndrome:HOMA-B:Bipolar disorder:Transmission distortion:Paternal transmission distortion
15 42579948 2 GANC T C exonic synonymous SNV GANC:NM_198141:exon4:c.T261C:p.N87N,GANC:NM_001301409:exon5:c.T261C:p.N87N RS8037627 Urinary albumin-to-creatinine ratio
15 44943757 2 SPG11 A G exonic nonsynonymous SNV SPG11:NM_001160227:exon6:c.T1388C:p.F463S,SPG11:NM_025137:exon6:c.T1388C:p.F463S RS3759871 Alcohol dependence:Gene expression of [probe 4230056 centered at chr15:42745973] in blood:Transmission distortion:Advanced age-related macular degeneration (geographic atrophy):Gene expression change of B2M (ENSG00000166710) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SPG11 (ENSG00000104133) in dendritic cells
15 45364534 2 SORD A C exonic nonsynonymous SNV SORD:NM_003104:exon8:c.A806C:p.N269T
15 45467541 2 SHF G A exonic synonymous SNV SHF:NM_001301168:exon3:c.C723T:p.T241T,SHF:NM_001301169:exon3:c.C723T:p.T241T,SHF:NM_001301170:exon3:c.C723T:p.T241T,SHF:NM_001301171:exon3:c.C117T:p.T39T,SHF:NM_138356:exon4:c.C528T:p.T176T
15 45695382 2 SPATA5L1 G A exonic nonsynonymous SNV SPATA5L1:NM_001323640:exon1:c.G755A:p.R252Q,SPATA5L1:NM_024063:exon1:c.G755A:p.R252Q
15 45695695 2 SPATA5L1 G A exonic synonymous SNV SPATA5L1:NM_001323640:exon1:c.G1068A:p.R356R,SPATA5L1:NM_024063:exon1:c.G1068A:p.R356R RS1153849 Serum creatinine estimated glomerular filtration rate (eGFR):Chronic kidney disease:Serum creatinine:Gene expression of SPATA5L1 in normal prepouch ileum
15 48460314 2
15 48807637 2 FBN1 C T exonic nonsynonymous SNV FBN1:NM_000138:exon12:c.G1415A:p.C472Y
15 50773755 2 USP8 G A exonic synonymous SNV USP8:NM_001283049:exon9:c.G1065A:p.Q355Q,USP8:NM_001128610:exon11:c.G1296A:p.Q432Q,USP8:NM_005154:exon11:c.G1296A:p.Q432Q
15 50867082 2 TRPM7 G A exonic synonymous SNV TRPM7:NM_001301212:exon34:c.C4983T:p.Y1661Y,TRPM7:NM_017672:exon34:c.C4986T:p.Y1662Y RS473357 LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Aortic valve calcium:Advanced age-related macular degeneration
15 51217361 2 AP4E1 T C exonic nonsynonymous SNV AP4E1:NM_001252127:exon5:c.T262C:p.C88R,AP4E1:NM_007347:exon5:c.T487C:p.C163R RS2306331 Eye color:Alzheimer's disease:Autism:Height:Waist hip ratio:Microalbuminuria:Gene expression of AC012100.1 in blood:Gene expression of AP4E1 in blood:Gene expression of AP4E1 (ENSG00000081014) in dendritic cells:Infant head circumference:Advanced age-related macular degeneration:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of AP4E1 (ENSG00000081014) in dendritic cells treated with Mycobacterium tuberculosis
15 51294832 2 AP4E1 G A exonic synonymous SNV AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q RS3825798 Alzheimer's disease:Total cholesterol:Serum creatinine:Chronic kidney disease:Autism with low IQ:Height:Waist hip ratio:Gene expression of SPPL2A [probe ILMN_27275] in osteoblasts treated with PGE2:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Infant head circumference:Parkinson's disease
15 52539673 2 MYO5C C T exonic synonymous SNV MYO5C:NM_018728:exon15:c.G1863A:p.R621R
15 52556429 2 MYO5C A G exonic synonymous SNV MYO5C:NM_018728:exon9:c.T1005C:p.N335N RS4776032 Salmonella-induced pyroptosis
15 52901283 2 FAM214A T C exonic nonsynonymous SNV FAM214A:NM_001286495:exon5:c.A1849G:p.T617A,FAM214A:NM_019600:exon6:c.A1828G:p.T610A
15 52901284 2 FAM214A T C exonic synonymous SNV FAM214A:NM_001286495:exon5:c.A1848G:p.S616S,FAM214A:NM_019600:exon6:c.A1827G:p.S609S
15 55619796 2 PIGB T C exonic nonsynonymous SNV PIGB:NM_004855:exon4:c.T485C:p.M162T RS2290344 Schizophrenia:Gemcitabine toxicity as measured by gemcitabine IC50 in lymphoblastoid cell lines:PIGB gene expression in lymphoblastoid cell lines
15 55632859 2 PIGB G T exonic nonsynonymous SNV PIGB:NM_004855:exon8:c.G896T:p.W299L RS678892 Hip bone mineral density (BMD):HDL cholesterol change with statins:Triglycerides change with statins:Hemoglobin (Hb):Gene expression of PIGB in CD4+ lymphocytes:Gene expression of PIGB///CCPG1 in blood:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Primary rhegmatogenous retinal detachment
15 56386577 2 RFX7 T G exonic nonsynonymous SNV RFX7:NM_022841:exon9:c.A3349C:p.N1117H
15 56387931 2 RFX7 C T exonic synonymous SNV RFX7:NM_022841:exon9:c.G1995A:p.Q665Q
15 56923714 2 ZNF280D G A exonic synonymous SNV ZNF280D:NM_001002843:exon21:c.C2883T:p.D961D,ZNF280D:NM_001288588:exon22:c.C2922T:p.D974D,ZNF280D:NM_017661:exon22:c.C2922T:p.D974D
15 57731335 2 CGNL1 A C exonic nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P
15 57731728 2 CGNL1 A G exonic nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A RS1280396 Variant Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Hepatitis C virus (HCV)-induced liver fibrosis:Longevity (exceptional longevity)
15 57967219 2 GCOM1;MYZAP T C exonic synonymous SNV MYZAP:NM_152451:exon11:c.T1173C:p.T391T,GCOM1:NM_001018090:exon12:c.T1257C:p.T419T,GCOM1:NM_001018091:exon12:c.T1257C:p.T419T,MYZAP:NM_001018100:exon12:c.T1257C:p.T419T,GCOM1:NM_001285900:exon12:c.T1257C:p.T419T
15 63009804 2 TLN2 C T exonic synonymous SNV TLN2:NM_015059:exon21:c.C2793T:p.A931A
15 63351840 2 TPM1 C A exonic synonymous SNV TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A RS1071646 HDL cholesterol:Total cholesterol:Chronic kidney disease:Serum creatinine:Triglycerides:HDL cholesterol:Height:Gene expression of TPM1 in blood:Gene expression of LACTB in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Parkinson's disease:College completion
15 63414083 2 LACTB A C exonic nonsynonymous SNV LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L
15 63433766 2 LACTB G A exonic nonsynonymous SNV LACTB:NM_032857:exon6:c.G1406A:p.R469K RS2729835 HDL cholesterol:LDL cholesterol:Total cholesterol:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Gene expression of LACTB in peripheral blood monocytes:Triglycerides:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of LACTB in blood:Diastolic blood pressure (DBP):Prostate cancer:Parkinson's disease:Gene expression of LACTB (ENSG00000103642) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of LACTB in normal prepouch ileum:Obesity with early age of onset (age >2)
15 64385851 2 FAM96A T C exonic synonymous SNV FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E
15 64915106 2 ZNF609 C T exonic synonymous SNV ZNF609:NM_015042:exon2:c.C828T:p.P276P
15 65157482 2 PLEKHO2 C T exonic nonsynonymous SNV PLEKHO2:NM_001195059:exon5:c.C718T:p.P240S,PLEKHO2:NM_025201:exon6:c.C868T:p.P290S RS2010875 HOMA-B:Fasting blood glucose:HDL cholesterol:LDL cholesterol:Infant head circumference
15 66644521 2 TIPIN C G exonic nonsynonymous SNV TIPIN:NM_017858:exon3:c.G158C:p.R53P
15 67457335 2 SMAD3 A G exonic synonymous SNV SMAD3:NM_001145103:exon2:c.A177G:p.L59L,SMAD3:NM_005902:exon2:c.A309G:p.L103L
15 67692502 2 IQCH T C exonic synonymous SNV IQCH:NM_001284347:exon9:c.T927C:p.R309R,IQCH:NM_001322471:exon9:c.T927C:p.R309R,IQCH:NM_001322470:exon10:c.T1164C:p.R388R,IQCH:NM_001322473:exon10:c.T1164C:p.R388R,IQCH:NM_001284348:exon11:c.T939C:p.R313R,IQCH:NM_001322475:exon11:c.T1164C:p.R388R,IQCH:NM_001031715:exon14:c.T1956C:p.R652R
15 68583175 2 FEM1B T C exonic synonymous SNV FEM1B:NM_015322:exon2:c.T1479C:p.N493N
15 70991925 2 UACA G C exonic synonymous SNV UACA:NM_001008224:exon2:c.C114G:p.T38T,UACA:NM_018003:exon2:c.C153G:p.T51T RS4776525 Adiponectin levels
15 72191266 2 MYO9A C T exonic nonsynonymous SNV MYO9A:NM_006901:exon25:c.G3578A:p.G1193E RS2415129 Triglycerides:HOMA-B:Fasting insulin:Disease-free survival in gastric cancer patients
15 72432583 2 SENP8 A G exonic nonsynonymous SNV SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A
15 72637795 2 HEXA T C exonic synonymous SNV HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E
15 72638892 2 HEXA T C exonic nonsynonymous SNV HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V
15 73023937 2 BBS4 T C exonic synonymous SNV BBS4:NM_001252678:exon11:c.T390C:p.F130F,BBS4:NM_001320665:exon11:c.T837C:p.F279F,BBS4:NM_033028:exon12:c.T906C:p.F302F
15 73048652 1 ADPGK G A exonic synonymous SNV ADPGK:NM_031284:exon5:c.C780T:p.L260L
15 73067234 2 ADPGK T C exonic synonymous SNV ADPGK:NM_031284:exon2:c.A438G:p.A146A RS11634630 Illegal drug dependence
15 75498548 2 C15orf39 A G exonic synonymous SNV C15orf39:NM_015492:exon2:c.A159G:p.A53A
15 75499602 2 C15orf39 C A exonic synonymous SNV C15orf39:NM_015492:exon2:c.C1213A:p.R405R
15 75499619 2 C15orf39 T C exonic synonymous SNV C15orf39:NM_015492:exon2:c.T1230C:p.P410P
15 75499861 2 C15orf39 G A exonic nonsynonymous SNV C15orf39:NM_015492:exon2:c.G1472A:p.G491D
15 75503147 2 C15orf39 G A exonic nonsynonymous SNV C15orf39:NM_015492:exon3:c.G2834A:p.G945D
15 77298857 2
15 78758677 2 IREB2 G C exonic nonsynonymous SNV IREB2:NM_001320942:exon5:c.G304C:p.V102L,IREB2:NM_001320943:exon5:c.G475C:p.V159L,IREB2:NM_004136:exon5:c.G475C:p.V159L
15 78780104 2 IREB2 T C exonic nonsynonymous SNV IREB2:NM_001320941:exon13:c.T989C:p.I330T,IREB2:NM_001320942:exon14:c.T1568C:p.I523T,IREB2:NM_004136:exon14:c.T1739C:p.I580T RS2230940 Salmonella-induced pyroptosis
15 78841220 2 PSMA4 T C exonic synonymous SNV PSMA4:NM_001102668:exon8:c.T507C:p.H169H,PSMA4:NM_001102667:exon9:c.T720C:p.H240H,PSMA4:NM_001330675:exon9:c.T627C:p.H209H,PSMA4:NM_001330676:exon9:c.T720C:p.H240H,PSMA4:NM_002789:exon9:c.T720C:p.H240H RS8053 Chronic obstructive pulmonary disease (COPD):Methylation levels at chr15:76644004-76644054 [hg18 coord, probe cg22563815] in Caudal pons:Salmonella-induced pyroptosis
15 79606137 2 TMED3 G A exonic synonymous SNV TMED3:NM_001301203:exon2:c.G207A:p.V69V,TMED3:NM_001330376:exon2:c.G207A:p.V69V,TMED3:NM_007364:exon2:c.G207A:p.V69V
15 79614418 2 TMED3 A G exonic synonymous SNV TMED3:NM_007364:exon3:c.A516G:p.A172A
15 89169614 2 AEN A G exonic synonymous SNV AEN:NM_022767:exon2:c.A174G:p.E58E RS3743476 Height
15 89169858 2 AEN A G exonic nonsynonymous SNV AEN:NM_022767:exon2:c.A418G:p.N140D RS8027765 Hip bone mineral density (BMD):Rheumatoid arthritis:Premature ovarian failure:HOMA-B:Cystatin C in serum:Gene expression of ISG20L1 [probe ILMN_12401] in osteoblasts treated with PGE2:Gene expression of ISG20 in blood:Gene expression of DET1 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
15 89172558 2 AEN G C exonic synonymous SNV AEN:NM_022767:exon3:c.G642C:p.T214T RS3743475 Rheumatoid arthritis:Birth weight
15 89838236 2 FANCI G A exonic synonymous SNV FANCI:NM_001113378:exon24:c.G2547A:p.K849K
15 90771750 2 SEMA4B T G exonic nonsynonymous SNV SEMA4B:NM_001324029:exon13:c.T1975G:p.S659A,SEMA4B:NM_001324030:exon14:c.T1921G:p.S641A,SEMA4B:NM_001324034:exon14:c.T2419G:p.S807A,SEMA4B:NM_198925:exon14:c.T2389G:p.S797A,SEMA4B:NM_001324031:exon15:c.T2548G:p.S850A,SEMA4B:NM_001324033:exon15:c.T1921G:p.S641A,SEMA4B:NM_020210:exon15:c.T2389G:p.S797A RS3751655 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 90784207 2 GDPGP1 A G exonic nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.A67G:p.R23G,GDPGP1:NM_001322811:exon5:c.A67G:p.R23G
15 90784250 2 GDPGP1 T C exonic nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.T110C:p.M37T,GDPGP1:NM_001322811:exon5:c.T110C:p.M37T RS7171194 Rheumatoid arthritis:Partial epilepsy:Body mass index (BMI):Gene expression of SEMA4B///CIB1 in blood:Gene expression of C15orf58 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 91424574 2 FURIN G C exonic synonymous SNV FURIN:NM_001289823:exon16:c.G1851C:p.G617G,FURIN:NM_001289824:exon16:c.G1851C:p.G617G,FURIN:NM_002569:exon16:c.G1851C:p.G617G RS6226 Gene expression of MAN2A2 (ENSG00000196547) in dendritic cells treated with Mycobacterium tuberculosis
15 91452595 2 MAN2A2 A G exonic nonsynonymous SNV MAN2A2:NM_006122:exon9:c.A1235G:p.Q412R,MAN2A2:NM_001320977:exon10:c.A1235G:p.Q412R RS2106673 Cystatin C in serum:Gene expression of RCCD1 in CD4+ lymphocytes:Height:Gene expression of UNC45A in blood:Gene expression of MAN2A2 in blood:Gene expression of RCCD1 in blood:Gene expression of HDDC3///UNC45A in blood:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MAN2A2 in normal prepouch ileum:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Alzheimer's disease cases:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in non-Alzheimer's disease samples:Gene expression of HDDC3 in normal prepouch ileum
15 91524841 2 PRC1 G T exonic nonsynonymous SNV PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E
15 91525197 2 PRC1 C T exonic synonymous SNV PRC1:NM_001267580:exon3:c.G159A:p.T53T,PRC1:NM_003981:exon4:c.G282A:p.T94T,PRC1:NM_199413:exon4:c.G282A:p.T94T RS2301826 Spine bone mineral density (BMD):Schizophrenia:LDL cholesterol change with statins:Gene expression of RCCD1 in peripheral blood monocytes:Gene expression of UNC45A in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Gene expression of RCCD1 in CD4+ lymphocytes:Gene expression of RCCD1 in blood:Gene expression of VPS33B in blood:Type 2 diabetes:Tetrology of fallot
15 91543761 2 VPS33B C T exonic nonsynonymous SNV VPS33B:NM_001289148:exon19:c.G1459A:p.G487S,VPS33B:NM_001289149:exon19:c.G1267A:p.G423S,VPS33B:NM_018668:exon20:c.G1540A:p.G514S RS11073964 LDL cholesterol change with statins:HDL cholesterol:Gene expression of RCCD1 in peripheral blood monocytes:Aortic valve calcium
15 93510603 2 CHD2 A G exonic synonymous SNV CHD2:NM_001271:exon17:c.A2049G:p.E683E RS4777755 Total cholesterol change with statins:Rheumatoid arthritis:Total cholesterol:College completion
15 99670989 2 SYNM T C exonic unknown UNKNOWN RS3743248 Cystatin C in serum:Birth weight:Mitral annular calcium
15 99671760 2 SYNM T C exonic unknown UNKNOWN RS260087 Mitral annular calcium
15 99715352 2 TTC23 A G exonic synonymous SNV TTC23:NM_001288616:exon8:c.T768C:p.L256L,TTC23:NM_001288615:exon10:c.T768C:p.L256L RS2602016 Cystatin C in serum:Gene expression of LRRC28 in peripheral blood monocytes:Gene expression of TTC23 in peripheral blood monocytes:Birth weight:Mitral annular calcium
15 100269796 2 LYSMD4 A G exonic synonymous SNV LYSMD4:NM_001284420:exon2:c.T240C:p.S80S,LYSMD4:NM_001284417:exon3:c.T423C:p.S141S,LYSMD4:NM_001284418:exon3:c.T423C:p.S141S,LYSMD4:NM_001284421:exon4:c.T45C:p.S15S,LYSMD4:NM_001284419:exon5:c.T411C:p.S137S,LYSMD4:NM_001284422:exon5:c.T45C:p.S15S,LYSMD4:NM_152449:exon6:c.T426C:p.S142S
15 102192548 2 TM2D3 A C exonic nonsynonymous SNV TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R,TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R
15 102224341 2 TARSL2 G A exonic synonymous SNV TARSL2:NM_152334:exon12:c.C1587T:p.S529S RS12901450 HOMA-B:HDL cholesterol:Systolic blood pressure (SBP)
15 129147079 2
16 103517 2 POLR3K A C exonic nonsynonymous SNV POLR3K:NM_016310:exon1:c.T70G:p.S24A
16 570557 2 RAB11FIP3 T C exonic synonymous SNV RAB11FIP3:NM_001142272:exon11:c.T1227C:p.S409S,RAB11FIP3:NM_014700:exon13:c.T2115C:p.S705S
16 601632 2 CAPN15 T C exonic synonymous SNV CAPN15:NM_005632:exon9:c.T2313C:p.G771G RS3213574 HDL cholesterol change with statins:Refractive error
16 602313 2 CAPN15 C A exonic synonymous SNV CAPN15:NM_005632:exon11:c.C2520A:p.A840A
16 705360 2 WDR90 T C exonic nonsynonymous SNV WDR90:NM_145294:exon15:c.T1610C:p.V537A
16 705844 2 WDR90 T C exonic synonymous SNV WDR90:NM_145294:exon17:c.T1921C:p.L641L
16 715990 2 WDR90 G A exonic nonsynonymous SNV WDR90:NM_145294:exon36:c.G4475A:p.R1492H
16 717523 2 WDR90 G T exonic synonymous SNV WDR90:NM_145294:exon41:c.G5181T:p.P1727P RS3752493 Differential exon level expression of LOC339123 [probe 3675270] in brain cortex:Asthma:Height:Gene expression:Gene expression of AL022341.1///WDR90 in blood:Gene expression of WFIKKN1///C16orf13 in blood:Gene expression of FAM173A///CCDC78 in blood:Diastolic blood pressure (DBP):Gene expression change of WDR24 (ENSG00000127580) in dendritic cells after treatment with Mycobacterium tuberculosis
16 722331 2 RHOT2 C T exonic nonsynonymous SNV RHOT2:NM_138769:exon15:c.C1273T:p.R425C
16 722548 2 RHOT2 A G exonic synonymous SNV RHOT2:NM_138769:exon16:c.A1386G:p.G462G
16 839262 2 CHTF18 A G exonic synonymous SNV CHTF18:NM_022092:exon3:c.A339G:p.R113R
16 1261219 2 CACNA1H A G exonic synonymous SNV CACNA1H:NM_001005407:exon22:c.A4275G:p.S1425S,CACNA1H:NM_021098:exon22:c.A4275G:p.S1425S
16 1261222 2 CACNA1H A G exonic synonymous SNV CACNA1H:NM_001005407:exon22:c.A4278G:p.S1426S,CACNA1H:NM_021098:exon22:c.A4278G:p.S1426S RS2753325 Chronic kidney disease:Gene expression of TPSG1 in normal prepouch ileum
16 1268494 2 CACNA1H C T exonic synonymous SNV CACNA1H:NM_001005407:exon32:c.C5712T:p.D1904D,CACNA1H:NM_021098:exon33:c.C5730T:p.D1910D
16 1269029 2 CACNA1H T C exonic synonymous SNV CACNA1H:NM_001005407:exon33:c.T5929C:p.L1977L,CACNA1H:NM_021098:exon34:c.T5947C:p.L1983L RS2738893 Chronic kidney disease:Gene expression of TPSG1 in normal prepouch ileum
16 1270349 2 CACNA1H T C exonic synonymous SNV CACNA1H:NM_001005407:exon34:c.T6399C:p.D2133D,CACNA1H:NM_021098:exon35:c.T6417C:p.D2139D
16 1544301 2 TELO2 G C exonic nonsynonymous SNV TELO2:NM_016111:exon2:c.G19C:p.E7Q
16 1544302 2 TELO2 A G exonic nonsynonymous SNV TELO2:NM_016111:exon2:c.A20G:p.E7G RS2667661 HDL cholesterol change with statins:Gene expression of CCDC154///CLCN7 in blood
16 1818503 2 MAPK8IP3 G C exonic synonymous SNV MAPK8IP3:NM_001040439:exon30:c.G3747C:p.G1249G,MAPK8IP3:NM_001318852:exon31:c.G3768C:p.G1256G,MAPK8IP3:NM_015133:exon31:c.G3765C:p.G1255G RS2076431 Triglycerides:LDL cholesterol:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe cg19030554] in Temporal cortex:Triglycerides:Total cholesterol
16 2059674 2 ZNF598 T C exonic nonsynonymous SNV ZNF598:NM_178167:exon2:c.A74G:p.E25G
16 2150020 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon29:c.T9765C:p.R3255R,PKD1:NM_001009944:exon29:c.T9765C:p.R3255R
16 2150022 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon29:c.C9763T:p.R3255C,PKD1:NM_001009944:exon29:c.C9763T:p.R3255C
16 2150500 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon27:c.C9465T:p.D3155D,PKD1:NM_001009944:exon27:c.C9465T:p.D3155D
16 2152397 1 PKD1 G T exonic synonymous SNV PKD1:NM_000296:exon25:c.C9186A:p.V3062V,PKD1:NM_001009944:exon25:c.C9186A:p.V3062V
16 2152399 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon25:c.G9184A:p.V3062I,PKD1:NM_001009944:exon25:c.G9184A:p.V3062I
16 2152426 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon25:c.G9157A:p.A3053T,PKD1:NM_001009944:exon25:c.G9157A:p.A3053T
16 2153302 1 PKD1 C A exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.G8756T:p.G2919V,PKD1:NM_001009944:exon23:c.G8756T:p.G2919V
16 2153733 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon23:c.G8325A:p.T2775T,PKD1:NM_001009944:exon23:c.G8325A:p.T2775T
16 2153767 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.T8291C:p.M2764T,PKD1:NM_001009944:exon23:c.T8291C:p.M2764T
16 2157929 1 PKD1 C G exonic synonymous SNV PKD1:NM_000296:exon16:c.G7020C:p.L2340L,PKD1:NM_001009944:exon16:c.G7020C:p.L2340L
16 2157965 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon16:c.G6984A:p.E2328E,PKD1:NM_001009944:exon16:c.G6984A:p.E2328E
16 2158277 1 PKD1 G C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C6891G:p.H2297Q,PKD1:NM_001009944:exon15:c.C6891G:p.H2297Q
16 2158353 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G6815A:p.R2272Q,PKD1:NM_001009944:exon15:c.G6815A:p.R2272Q
16 2158389 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T6779C:p.I2260T,PKD1:NM_001009944:exon15:c.T6779C:p.I2260T
16 2158440 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A6728G:p.Q2243R,PKD1:NM_001009944:exon15:c.A6728G:p.Q2243R
16 2158444 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A6724G:p.T2242A,PKD1:NM_001009944:exon15:c.A6724G:p.T2242A
16 2158524 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G6644A:p.R2215Q,PKD1:NM_001009944:exon15:c.G6644A:p.R2215Q
16 2167044 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon7:c.G1396A:p.V466M,PKD1:NM_001009944:exon7:c.G1396A:p.V466M
16 2167972 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G1021A:p.A341T,PKD1:NM_001009944:exon5:c.G1021A:p.A341T
16 2168059 1 PKD1 C G exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G934C:p.A312P,PKD1:NM_001009944:exon5:c.G934C:p.A312P
16 2168072 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon5:c.C921T:p.F307F,PKD1:NM_001009944:exon5:c.C921T:p.F307F
16 2168135 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon5:c.T858C:p.S286S,PKD1:NM_001009944:exon5:c.T858C:p.S286S
16 2168144 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon5:c.T849C:p.P283P,PKD1:NM_001009944:exon5:c.T849C:p.P283P
16 2168167 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.A826G:p.T276A,PKD1:NM_001009944:exon5:c.A826G:p.T276A
16 2168234 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon5:c.A759G:p.P253P,PKD1:NM_001009944:exon5:c.A759G:p.P253P
16 2168267 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon5:c.T726C:p.F242F,PKD1:NM_001009944:exon5:c.T726C:p.F242F
16 2168279 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon5:c.C714T:p.S238S,PKD1:NM_001009944:exon5:c.C714T:p.S238S
16 2168318 1 PKD1 C G exonic synonymous SNV PKD1:NM_000296:exon5:c.G675C:p.S225S,PKD1:NM_001009944:exon5:c.G675C:p.S225S
16 2257105 2 MLST8 C G exonic synonymous SNV MLST8:NM_001199173:exon5:c.C414G:p.P138P,MLST8:NM_001199174:exon5:c.C414G:p.P138P,MLST8:NM_001199175:exon5:c.C411G:p.P137P,MLST8:NM_022372:exon5:c.C414G:p.P138P RS26862 Methylation levels at chr16:2200871-2200921 [hg18 coord, probe cg25665528] in Caudal pons:Height:Gene expression:Mitral annular calcium:Infant head circumference:Birth weight
16 2260567 2 BRICD5 C T exonic nonsynonymous SNV BRICD5:NM_182563:exon2:c.G136A:p.V46I
16 2260612 2 BRICD5 T C exonic nonsynonymous SNV BRICD5:NM_182563:exon2:c.A91G:p.S31G
16 2282256 2 E4F1 G A exonic nonsynonymous SNV E4F1:NM_001288776:exon4:c.G500A:p.R167H,E4F1:NM_001288778:exon4:c.G500A:p.R167H,E4F1:NM_004424:exon4:c.G500A:p.R167H
16 2285357 2 E4F1 C T exonic synonymous SNV E4F1:NM_001288778:exon12:c.C1608T:p.I536I,E4F1:NM_004424:exon14:c.C2139T:p.I713I RS26840 Height:HOMA-IR:Height:Gene expression of PGP (ENSG00000184207) in dendritic cells treated with Mycobacterium tuberculosis
16 2331430 2 ABCA3 A G exonic synonymous SNV ABCA3:NM_001089:exon27:c.T4116C:p.S1372S
16 3452193 2 ZNF174 T G exonic synonymous SNV ZNF174:NM_001032292:exon1:c.T189G:p.A63A,ZNF174:NM_001347869:exon1:c.T189G:p.A63A,ZNF174:NM_003450:exon1:c.T189G:p.A63A,ZNF174:NM_001347868:exon2:c.T189G:p.A63A,ZNF174:NM_001347870:exon2:c.T189G:p.A63A RS37811 Tardive dyskinesia:PROP taste detection threshold:Parkinson's disease
16 3533577 2 NAA60 C G exonic synonymous SNV NAA60:NM_001317095:exon4:c.C357G:p.G119G,NAA60:NM_001083600:exon5:c.C552G:p.G184G,NAA60:NM_001317093:exon5:c.C573G:p.G191G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083601:exon6:c.C552G:p.G184G RS1137454 Gene expression of NAT15 (ENSG00000122390) in dendritic cells
16 3534892 2 NAA60 G A exonic nonsynonymous SNV NAA60:NM_001317096:exon5:c.G539A:p.R180Q RS13740 Irritible bowel syndrome:Chronic kidney disease:Gene expression of CLUAP1 in blood:Gene expression of TRAP1 in blood:Salmonella-induced pyroptosis
16 4165432 2 ADCY9 T C exonic synonymous SNV ADCY9:NM_001116:exon2:c.A12G:p.P4P
16 4386814 2 GLIS2 T C exonic synonymous SNV GLIS2:NM_032575:exon6:c.T864C:p.Y288Y,GLIS2:NM_001318918:exon8:c.T864C:p.Y288Y
16 4431202 2 VASN A G exonic synonymous SNV VASN:NM_138440:exon2:c.A324G:p.T108T RS758044 Gene expression of C16orf5 [probe 223960_s_at] in lymphoblastoid cell lines:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal cortex:Methylation levels at chr16:4405732-4405782 [hg18 coord, probe cg19168338] in Frontal cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Cerebellum:HDL cholesterol:Height
16 4432029 2 VASN A C exonic nonsynonymous SNV VASN:NM_138440:exon2:c.A1151C:p.E384A RS3810818 Gene expression of C16orf5 [probe 223960_s_at] in lymphoblastoid cell lines:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Cerebellum:Waist hip ratio:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of NMRAL1 in blood:Gene expression of DNAJA3 in blood:Gene expression of HMOX2///C16orf5 in blood:Systolic blood pressure (SBP)
16 4484396 2 DNAJA3 A T exonic nonsynonymous SNV DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y RS1139653 2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Frontal cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Cerebellum:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal cortex:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Caudal pons:Waist hip ratio:Gene expression of C16orf5 (probeID ILMN_1815812) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C16orf5 (probeID ILMN_1815812) in temporal cortex in Alzheimer's disease cases and controls:Refractive error
16 4496973 2 DNAJA3 T A exonic synonymous SNV DNAJA3:NM_001286516:exon6:c.T624A:p.G208G,DNAJA3:NM_001135110:exon8:c.T1083A:p.G361G,DNAJA3:NM_005147:exon8:c.T1083A:p.G361G RS2304633 LDL cholesterol change with statins:Total cholesterol change with statins:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Caudal pons:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Cerebellum:Methylation levels at chr16:4465987-4466037 [hg18 coord, probe cg14951292] in Temporal cortex:Waist hip ratio
16 4815608 2 ZNF500 A G exonic synonymous SNV ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L
16 4861709 2 GLYR1 G C exonic nonsynonymous SNV GLYR1:NM_001324096:exon13:c.C1182G:p.H394Q,GLYR1:NM_001324097:exon13:c.C1200G:p.H400Q,GLYR1:NM_001324098:exon13:c.C1392G:p.H464Q,GLYR1:NM_001308096:exon14:c.C1359G:p.H453Q,GLYR1:NM_032569:exon14:c.C1377G:p.H459Q
16 4938160 2 PPL T G exonic nonsynonymous SNV PPL:NM_002705:exon20:c.A2457C:p.R819S RS2734742 Salmonella-induced pyroptosis
16 4944518 2 PPL C G exonic synonymous SNV PPL:NM_002705:exon12:c.G1344C:p.V448V
16 5075542 2 NAGPA G A exonic synonymous SNV NAGPA:NM_016256:exon10:c.C1485T:p.N495N RS887854 Differential exon level expression of NAGPA [probe 3678519] in peripheral blood mononuclear cells:Differential exon level expression of NAGPA [probe 3678519] in brain cortex:Gene expression of NAGPA [probe ILMN_26466] in osteoblasts treated with BMP2:Tetrology of fallot:Years of education:College completion
16 5083483 2 NAGPA T C exonic synonymous SNV NAGPA:NM_016256:exon2:c.A333G:p.G111G
16 5139217 2 EEF2KMT C G exonic synonymous SNV EEF2KMT:NM_001289029:exon5:c.G600C:p.G200G,EEF2KMT:NM_201598:exon6:c.G681C:p.G227G,EEF2KMT:NM_201400:exon7:c.G783C:p.G261G
16 5140283 1 EEF2KMT G A exonic nonsynonymous SNV EEF2KMT:NM_001289029:exon4:c.C361T:p.R121W,EEF2KMT:NM_201598:exon5:c.C442T:p.R148W,EEF2KMT:NM_201400:exon6:c.C544T:p.R182W
16 8736028 2 METTL22 T C exonic synonymous SNV METTL22:NM_024109:exon8:c.T871C:p.L291L
16 8738427 2 METTL22 T C exonic synonymous SNV METTL22:NM_024109:exon10:c.T1024C:p.L342L
16 8738499 2 METTL22 G A exonic nonsynonymous SNV METTL22:NM_024109:exon10:c.G1096A:p.A366T
16 8952248 2 CARHSP1 A G exonic synonymous SNV CARHSP1:NM_001042476:exon3:c.T240C:p.T80T,CARHSP1:NM_001278263:exon3:c.T240C:p.T80T,CARHSP1:NM_001278264:exon3:c.T240C:p.T80T,CARHSP1:NM_001278265:exon3:c.T240C:p.T80T,CARHSP1:NM_001278266:exon3:c.T240C:p.T80T,CARHSP1:NM_014316:exon3:c.T240C:p.T80T,CARHSP1:NM_001278260:exon4:c.T240C:p.T80T,CARHSP1:NM_001278261:exon4:c.T240C:p.T80T,CARHSP1:NM_001278262:exon4:c.T240C:p.T80T
16 9914947 2
16 11836398 2 TXNDC11 C G exonic synonymous SNV TXNDC11:NM_001303447:exon1:c.G189C:p.P63P,TXNDC11:NM_015914:exon1:c.G189C:p.P63P
16 12009279 2 GSPT1 A G exonic nonsynonymous SNV GSPT1:NM_001130006:exon1:c.T299C:p.V100A,GSPT1:NM_002094:exon1:c.T299C:p.V100A
16 15042859 1 NPIPA1 T C exonic synonymous SNV NPIPA1:NM_006985:exon5:c.T510C:p.N170N
16 15098047 2 PDXDC1 C G exonic nonsynonymous SNV PDXDC1:NM_001285444:exon4:c.C165G:p.I55M,PDXDC1:NM_001285445:exon4:c.C162G:p.I54M,PDXDC1:NM_001324021:exon4:c.C165G:p.I55M,PDXDC1:NM_001285447:exon5:c.C201G:p.I67M,PDXDC1:NM_001285449:exon5:c.C246G:p.I82M,PDXDC1:NM_001285450:exon5:c.C246G:p.I82M,PDXDC1:NM_001324019:exon5:c.C243G:p.I81M,PDXDC1:NM_001324020:exon5:c.C243G:p.I81M,PDXDC1:NM_015027:exon5:c.C246G:p.I82M
16 15111218 2 PDXDC1 C T exonic nonsynonymous SNV PDXDC1:NM_001285444:exon10:c.C821T:p.P274L,PDXDC1:NM_001285445:exon10:c.C818T:p.P273L,PDXDC1:NM_001285448:exon10:c.C629T:p.P210L,PDXDC1:NM_001285450:exon10:c.C833T:p.P278L,PDXDC1:NM_001324021:exon10:c.C821T:p.P274L,PDXDC1:NM_001285447:exon11:c.C857T:p.P286L,PDXDC1:NM_001285449:exon11:c.C902T:p.P301L,PDXDC1:NM_001324019:exon11:c.C899T:p.P300L,PDXDC1:NM_001324020:exon11:c.C899T:p.P300L,PDXDC1:NM_015027:exon11:c.C902T:p.P301L
16 16271357 2 ABCC6 T C exonic nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V
16 16272670 2 ABCC6 T C exonic synonymous SNV ABCC6:NM_001171:exon18:c.A2400G:p.G800G
16 18823379 2 SMG1 T C exonic synonymous SNV SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q
16 19547357 2 CCP110 A G exonic synonymous SNV CCP110:NM_001199022:exon4:c.A366G:p.T122T,CCP110:NM_001323572:exon4:c.A366G:p.T122T,CCP110:NM_001323577:exon4:c.A366G:p.T122T,CCP110:NM_001323569:exon5:c.A366G:p.T122T,CCP110:NM_001323576:exon5:c.A366G:p.T122T,CCP110:NM_014711:exon5:c.A366G:p.T122T,CCP110:NM_001323570:exon6:c.A366G:p.T122T,CCP110:NM_001323571:exon6:c.A366G:p.T122T RS10492785 HDL cholesterol change with statins:LDL cholesterol change with statins:Aortic valve calcium:Adiponectin levels
16 19547503 2 CCP110 C T exonic nonsynonymous SNV CCP110:NM_001199022:exon4:c.C512T:p.P171L,CCP110:NM_001323572:exon4:c.C512T:p.P171L,CCP110:NM_001323577:exon4:c.C512T:p.P171L,CCP110:NM_001323569:exon5:c.C512T:p.P171L,CCP110:NM_001323576:exon5:c.C512T:p.P171L,CCP110:NM_014711:exon5:c.C512T:p.P171L,CCP110:NM_001323570:exon6:c.C512T:p.P171L,CCP110:NM_001323571:exon6:c.C512T:p.P171L RS3751821 Rheumatoid arthritis:Simpson-Angus Scale:Barnes Akathisia Rating Scale:HDL cholesterol change with statins:LDL cholesterol change with statins:Gene expression of GDE1 in CD4+ lymphocytes:Gene expression of AC099518.5 in blood:Adiponectin levels:Aortic valve calcium
16 19547747 2 CCP110 C G exonic nonsynonymous SNV CCP110:NM_001199022:exon4:c.C756G:p.I252M,CCP110:NM_001323572:exon4:c.C756G:p.I252M,CCP110:NM_001323577:exon4:c.C756G:p.I252M,CCP110:NM_001323569:exon5:c.C756G:p.I252M,CCP110:NM_001323576:exon5:c.C756G:p.I252M,CCP110:NM_014711:exon5:c.C756G:p.I252M,CCP110:NM_001323570:exon6:c.C756G:p.I252M,CCP110:NM_001323571:exon6:c.C756G:p.I252M RS226891 LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
16 20855309 2 REXO5 A G exonic synonymous SNV REXO5:NM_001199053:exon16:c.A1680G:p.E560E,REXO5:NM_030941:exon16:c.A1680G:p.E560E RS9929443 Rheumatoid arthritis
16 21190853 2 TMEM159 A C exonic nonsynonymous SNV TMEM159:NM_001301771:exon5:c.A462C:p.E154D,TMEM159:NM_020422:exon5:c.A462C:p.E154D,TMEM159:NM_001301769:exon6:c.A462C:p.E154D,TMEM159:NM_001301775:exon6:c.A534C:p.E178D RS1063087 Triglycerides change with statins:Acute lung injury following major trauma:Obesity with early age of onset (age >2):Gene expression of TMEM159 in normal prepouch ileum
16 22262514 2 EEF2K C A exonic synonymous SNV EEF2K:NM_013302:exon6:c.C489A:p.G163G RS2303186 Major depressive disorder:HDL cholesterol:Triglycerides:HDL cholesterol:Gene expression of POLR3E [transcript NM_018119, probe A_23_P152181] in liver:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
16 22269867 2 EEF2K A G exonic nonsynonymous SNV EEF2K:NM_013302:exon10:c.A1082G:p.Q361R
16 28617485 2 SULT1A1 C T exonic nonsynonymous SNV SULT1A1:NM_177536:exon5:c.G433A:p.V145M,SULT1A1:NM_177534:exon6:c.G667A:p.V223M,SULT1A1:NM_001055:exon7:c.G667A:p.V223M,SULT1A1:NM_177529:exon7:c.G667A:p.V223M,SULT1A1:NM_177530:exon7:c.G667A:p.V223M
16 28842311 2 ATXN2L A G exonic synonymous SNV ATXN2L:NM_001308230:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q
16 29708350 2 QPRT A G exonic nonsynonymous SNV QPRT:NM_001318249:exon2:c.A148G:p.T50A,QPRT:NM_001318250:exon3:c.A139G:p.T47A,QPRT:NM_014298:exon3:c.A583G:p.T195A
16 29811319 2 KIF22 C T exonic synonymous SNV KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I
16 29814234 2 KIF22 G A exonic synonymous SNV KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V
16 29825126 2 PRRT2 T C exonic synonymous SNV PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L
16 30198151 2 CORO1A A G exonic synonymous SNV CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P
16 30724070 2 SRCAP G T exonic synonymous SNV SRCAP:NM_006662:exon14:c.G2064T:p.R688R
16 30734963 2 SRCAP C A exonic synonymous SNV SRCAP:NM_006662:exon25:c.C4218A:p.S1406S
16 30779716 2 RNF40 A G exonic nonsynonymous SNV RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_001286572:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R
16 30780828 2 RNF40 A G exonic synonymous SNV RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_001286572:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L
16 30964940 2 ORAI3 A G exonic synonymous SNV ORAI3:NM_152288:exon2:c.A663G:p.Q221Q
16 31075708 2 ZNF668 C G exonic nonsynonymous SNV ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L
16 31141826 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P
16 31141880 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L
16 31153105 2 PRSS36 A G exonic synonymous SNV PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D
16 31926619 2 ZNF267 G A exonic nonsynonymous SNV ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y RS3850114 Obesity with early age of onset (age >2)
16 44938563 2
16 46655210 2 SHCBP1 A G exonic nonsynonymous SNV SHCBP1:NM_001324318:exon1:c.T62C:p.M21T,SHCBP1:NM_001324319:exon1:c.T62C:p.M21T,SHCBP1:NM_024745:exon1:c.T62C:p.M21T
16 46696284 2 VPS35 G A exonic synonymous SNV VPS35:NM_018206:exon15:c.C1938T:p.H646H
16 50120247 1 HEATR3 C T exonic nonsynonymous SNV HEATR3:NM_001329731:exon10:c.C802T:p.L268F,HEATR3:NM_182922:exon11:c.C1495T:p.L499F,HEATR3:NM_001329729:exon12:c.C1144T:p.L382F,HEATR3:NM_001329730:exon12:c.C1144T:p.L382F
16 50326661 2 ADCY7 A G exonic synonymous SNV ADCY7:NM_001114:exon4:c.A612G:p.A204A,ADCY7:NM_001286057:exon5:c.A612G:p.A204A
16 50825518 1 CYLD G A exonic nonsynonymous SNV CYLD:NM_001042355:exon14:c.G2149A:p.E717K,CYLD:NM_001042412:exon14:c.G2149A:p.E717K,CYLD:NM_015247:exon16:c.G2158A:p.E720K
16 53341748 2 CHD9 T G exonic nonsynonymous SNV CHD9:NM_001308319:exon32:c.T6936G:p.D2312E,CHD9:NM_025134:exon33:c.T6936G:p.D2312E RS6499548 Eye color:Arthritis including non-Rheumatoid:Longstanding arthritis:LDL cholesterol:Premature ovarian failure:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Triglycerides:Asthma:PROP taste detection threshold:Tetrology of fallot
16 54318528 2 IRX3 A G exonic nonsynonymous SNV IRX3:NM_024336:exon2:c.T1265C:p.L422P
16 56548501 2 BBS2 C T exonic nonsynonymous SNV BBS2:NM_031885:exon2:c.G209A:p.S70N
16 56855496 2 NUP93 C G exonic synonymous SNV NUP93:NM_001242795:exon5:c.C276G:p.L92L,NUP93:NM_001242796:exon5:c.C276G:p.L92L,NUP93:NM_014669:exon7:c.C645G:p.L215L RS2118017 HDL cholesterol:Gene expression of MED29 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP)
16 57786711 2 KATNB1 C T exonic synonymous SNV KATNB1:NM_005886:exon10:c.C726T:p.D242D RS2965798 Biploar disorder (bipolar schizoaffective disorder):Triglycerides
16 57795394 2 KIFC3 G A exonic synonymous SNV KIFC3:NM_001318712:exon12:c.C1497T:p.D499D,KIFC3:NM_001318713:exon12:c.C1377T:p.D459D,KIFC3:NM_001130099:exon13:c.C1386T:p.D462D,KIFC3:NM_001130100:exon14:c.C1803T:p.D601D,KIFC3:NM_001318710:exon14:c.C1869T:p.D623D,KIFC3:NM_001318711:exon14:c.C1629T:p.D543D,KIFC3:NM_001318715:exon14:c.C1386T:p.D462D,KIFC3:NM_005550:exon14:c.C1803T:p.D601D,KIFC3:NM_001318714:exon15:c.C1386T:p.D462D RS2967172 Triglycerides:Body mass index (BMI)
16 57805176 2 KIFC3 A G exonic synonymous SNV KIFC3:NM_001318712:exon4:c.T393C:p.L131L,KIFC3:NM_001318713:exon4:c.T282C:p.L94L,KIFC3:NM_001130099:exon5:c.T282C:p.L94L,KIFC3:NM_001130100:exon6:c.T699C:p.L233L,KIFC3:NM_001318710:exon6:c.T765C:p.L255L,KIFC3:NM_001318711:exon6:c.T525C:p.L175L,KIFC3:NM_001318715:exon6:c.T282C:p.L94L,KIFC3:NM_005550:exon6:c.T699C:p.L233L,KIFC3:NM_001318714:exon7:c.T282C:p.L94L RS2967165 Neuroblastoma (brain cancer):Salmonella-induced pyroptosis:Birth weight
16 58545426 2 NDRG4 A G exonic synonymous SNV NDRG4:NM_001242834:exon14:c.A1020G:p.S340S,NDRG4:NM_001242836:exon14:c.A966G:p.S322S,NDRG4:NM_001242833:exon15:c.A1056G:p.S352S,NDRG4:NM_001242835:exon15:c.A1005G:p.S335S,NDRG4:NM_001130487:exon16:c.A1122G:p.S374S,NDRG4:NM_020465:exon16:c.A1062G:p.S354S,NDRG4:NM_022910:exon16:c.A1062G:p.S354S RS42945 Refractive error:Coronary artery disease (CAD):Salmonella-induced pyroptosis
16 58743454 2 GOT2 A C exonic nonsynonymous SNV GOT2:NM_001286220:exon8:c.T908G:p.V303G,GOT2:NM_002080:exon9:c.T1037G:p.V346G RS30842 Eye color:Rheumatoid arthritis:Total cholesterol:Triglycerides:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Gene expression of SLC38A7 (ENSG00000103042) in dendritic cells:Gene expression of GOT2 in normal prepouch ileum
16 58750604 2 GOT2 G A exonic synonymous SNV GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C
16 68057096 2 DDX28 T C exonic nonsynonymous SNV DDX28:NM_018380:exon1:c.A10G:p.T4A RS237831 HOMA-B:Gene expression of FHOD1 in peripheral blood monocytes:Aortic valve calcium
16 68598007 2 ZFP90 A G exonic synonymous SNV ZFP90:NM_001305203:exon5:c.A1317G:p.Q439Q,ZFP90:NM_133458:exon5:c.A1317G:p.Q439Q RS1177648 Gene expression of ZFP90 [probe 3666282] in brain cortex:Partial epilepsy:Gene expression of ZFP90 in CD4+ lymphocytes:Microalbuminuria:Gene expression of ZFP90 in blood:Maternal transmission distortion:Gene expression of ZFP90 in normal prepouch ileum
16 68857441 2 CDH1 T C exonic synonymous SNV CDH1:NM_001317184:exon12:c.T1893C:p.A631A,CDH1:NM_001317186:exon12:c.T111C:p.A37A,CDH1:NM_001317185:exon13:c.T528C:p.A176A,CDH1:NM_004360:exon13:c.T2076C:p.A692A RS1801552 Eye color:Body mass index (BMI):Hypertension (early onset hypertension)
16 69963355 2 WWP2 G A exonic synonymous SNV WWP2:NM_001270453:exon9:c.G891A:p.K297K,WWP2:NM_001270454:exon12:c.G1239A:p.K413K,WWP2:NM_007014:exon13:c.G1239A:p.K413K RS1566452 Total cholesterol:Serum creatinine:Triglycerides:Height:Gene expression of CLEC18A in normal prepouch ileum:Gene expression of PDXDC2P in normal prepouch ileum
16 69967897 2 WWP2 T C exonic synonymous SNV WWP2:NM_199424:exon7:c.T390C:p.H130H,WWP2:NM_001270453:exon14:c.T1359C:p.H453H,WWP2:NM_001270454:exon17:c.T1707C:p.H569H,WWP2:NM_007014:exon18:c.T1707C:p.H569H RS2270841 Total cholesterol:Serum creatinine:Triglycerides:Height:Urinary albumin-to-creatinine ratio
16 69970329 2 WWP2 A G exonic synonymous SNV WWP2:NM_199424:exon9:c.A774G:p.T258T,WWP2:NM_001270453:exon16:c.A1743G:p.T581T,WWP2:NM_001270454:exon19:c.A2091G:p.T697T,WWP2:NM_007014:exon20:c.A2091G:p.T697T RS1983016 Amyotrophic lateral sclerosis (ALS):Arthritis including non-Rheumatoid:Differential splicing of AARS [probeset 3697019] in lymphoblastoid cell lines:Total cholesterol:Asthma:Height:Urinary albumin-to-creatinine ratio:Gene expression of WWP2 in blood:Gene expression of [probe 2490187 centered at chr16:68569411] in blood:Gene expression of [probe 110364 centered at chr16:68752008] in blood:Gene expression of PDXDC2P in normal prepouch ileum:Gene expression of CLEC18A in normal prepouch ileum
16 69973825 2 WWP2 G A exonic synonymous SNV WWP2:NM_199424:exon14:c.G1278A:p.E426E,WWP2:NM_001270453:exon21:c.G2247A:p.E749E,WWP2:NM_001270454:exon24:c.G2595A:p.E865E,WWP2:NM_007014:exon25:c.G2595A:p.E865E RS3748389 Gene expression of LOC440348 [probe 221992_at] in lymphoblastoid cell lines:Chronic kidney disease:Adiponectin levels:Birth weight
16 70287177 2 AARS A G exonic synonymous SNV AARS:NM_001605:exon20:c.T2715C:p.V905V RS4081753 Barnes Akathisia Rating Scale:Gene expression of EXOSC6 in peripheral blood monocytes:Height:Urinary albumin-to-creatinine ratio:serum testosterone:Uracil
16 70548297 2 COG4 G A exonic nonsynonymous SNV COG4:NM_001195139:exon4:c.C485T:p.T162I,COG4:NM_015386:exon4:c.C485T:p.T162I RS3931036 Spine bone mineral density (BMD):Differential exon level expression of COG4 [probe 3697153] in peripheral blood mononuclear cells:Differential exon level expression of COG4 [probe 3697153] in brain cortex:Alzheimer's disease:Gene expression of EXOSC6 in peripheral blood monocytes:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio
16 72827758 2 ZFHX3 T C exonic synonymous SNV ZFHX3:NM_001164766:exon8:c.A6081G:p.G2027G,ZFHX3:NM_006885:exon9:c.A8823G:p.G2941G RS699444 Simpson-Angus Scale:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
16 72832135 2 ZFHX3 T A exonic synonymous SNV ZFHX3:NM_001164766:exon8:c.A1704T:p.A568A,ZFHX3:NM_006885:exon9:c.A4446T:p.A1482A
16 75269267 2 BCAR1 A G exonic synonymous SNV BCAR1:NM_001170721:exon4:c.T900C:p.A300A,BCAR1:NM_001170715:exon5:c.T1584C:p.A528A,BCAR1:NM_001170716:exon5:c.T1584C:p.A528A,BCAR1:NM_001170717:exon5:c.T1584C:p.A528A,BCAR1:NM_001170718:exon5:c.T1530C:p.A510A,BCAR1:NM_001170719:exon5:c.T1524C:p.A508A,BCAR1:NM_014567:exon5:c.T1530C:p.A510A,BCAR1:NM_001170714:exon6:c.T1668C:p.A556A,BCAR1:NM_001170720:exon6:c.T1086C:p.A362A RS3169330 HDL cholesterol:Aortic valve calcium:Gene expression of CTRB2 (probeID ILMN_1767643) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CTRB2 (probeID ILMN_1767643) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 75269534 2 BCAR1 C T exonic synonymous SNV BCAR1:NM_001170721:exon4:c.G633A:p.P211P,BCAR1:NM_001170715:exon5:c.G1317A:p.P439P,BCAR1:NM_001170716:exon5:c.G1317A:p.P439P,BCAR1:NM_001170717:exon5:c.G1317A:p.P439P,BCAR1:NM_001170718:exon5:c.G1263A:p.P421P,BCAR1:NM_001170719:exon5:c.G1257A:p.P419P,BCAR1:NM_014567:exon5:c.G1263A:p.P421P,BCAR1:NM_001170714:exon6:c.G1401A:p.P467P,BCAR1:NM_001170720:exon6:c.G819A:p.P273P RS3743613 Spine bone mineral density (BMD):Rheumatoid arthritis:HDL cholesterol:Advanced age-related macular degeneration:Years of education:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 75590092 2 TMEM231 G C exonic nonsynonymous SNV TMEM231:NM_001077416:exon1:c.C78G:p.S26R,TMEM231:NM_001077418:exon1:c.C16G:p.L6V RS3743601 LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (geographic atrophy)
16 77228629 2 MON1B A G exonic synonymous SNV MON1B:NM_001286640:exon2:c.A435G:p.R145R,MON1B:NM_001286639:exon3:c.A546G:p.R182R,MON1B:NM_014940:exon4:c.A873G:p.R291R
16 77233394 2 SYCE1L A G exonic nonsynonymous SNV SYCE1L:NM_001129979:exon1:c.A46G:p.T16A,SYCE1L:NM_001348924:exon1:c.A46G:p.T16A
16 77246795 2 SYCE1L C G exonic synonymous SNV SYCE1L:NM_001348924:exon9:c.C573G:p.P191P,SYCE1L:NM_001129979:exon11:c.C696G:p.P232P
16 84115483 2 MBTPS1 G A exonic synonymous SNV MBTPS1:NM_003791:exon11:c.C1317T:p.P439P RS3743631 Fasting blood glucose:LDL cholesterol:Autism:Systolic blood pressure (SBP):Gene expression of TAF1C (probeID ILMN_2335072) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TAF1C (probeID ILMN_2335072) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium:Adiponectin levels
16 84217062 2 TAF1C C T exonic nonsynonymous SNV TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y
16 84520325 2 TLDC1 T C exonic synonymous SNV TLDC1:NM_020947:exon5:c.A870G:p.G290G RS431389 Serum creatinine
16 84520396 2 TLDC1 A G exonic nonsynonymous SNV TLDC1:NM_020947:exon5:c.T799C:p.C267R
16 85706047 2 GSE1 A C exonic synonymous SNV GSE1:NM_001134473:exon15:c.A3244C:p.R1082R,GSE1:NM_001278184:exon15:c.A3337C:p.R1113R,GSE1:NM_014615:exon16:c.A3556C:p.R1186R RS9940601 LDL cholesterol change with statins:Total cholesterol change with statins
16 85838653 2 COX4I1 T C exonic synonymous SNV COX4I1:NM_001318786:exon3:c.T184C:p.L62L,COX4I1:NM_001318788:exon3:c.T184C:p.L62L,COX4I1:NM_001318794:exon3:c.T184C:p.L62L,COX4I1:NM_001318797:exon3:c.T70C:p.L24L,COX4I1:NM_001861:exon3:c.T184C:p.L62L RS2599091 Simpson-Angus Scale
16 86565826 2 MTHFSD C G exonic nonsynonymous SNV MTHFSD:NM_001159377:exon8:c.G943C:p.G315R,MTHFSD:NM_001159378:exon8:c.G943C:p.G315R,MTHFSD:NM_001159379:exon8:c.G940C:p.G314R,MTHFSD:NM_001159380:exon8:c.G883C:p.G295R,MTHFSD:NM_022764:exon8:c.G940C:p.G314R RS3751803 Total cholesterol
16 88061150 2 BANP C T exonic synonymous SNV BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I
16 88644005 2 ZC3H18 A G exonic synonymous SNV ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K
16 88709828 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon6:c.T521C:p.V174A
16 88713236 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon4:c.T214C:p.Y72H RS4673 Abnormal Involuntary Movement Scale:Tardive dyskinesia:Serum creatinine:Autism with verbal ability:Height:Gene expression of CYBA in blood
16 88717386 2 CYBA T C exonic synonymous SNV CYBA:NM_000101:exon1:c.A36G:p.E12E
16 88781125 2 CTU2 T C exonic synonymous SNV CTU2:NM_001318513:exon11:c.T1071C:p.C357C,CTU2:NM_001012759:exon12:c.T1332C:p.C444C,CTU2:NM_001012762:exon12:c.T1332C:p.C444C,CTU2:NM_001318507:exon12:c.T1545C:p.C515C
16 88782676 2 PIEZO1 A G exonic synonymous SNV PIEZO1:NM_001142864:exon49:c.T7059C:p.P2353P RS2290902 Hip bone mineral density (BMD):Fasting insulin:HOMA-IR:Bicuspid aortic valve:Height:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RNF166 in blood:Gene expression of C16orf84///FAM38A in blood:Primary rhegmatogenous retinal detachment:Transmission distortion
16 88783521 2 PIEZO1 T C exonic synonymous SNV PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P
16 88787704 2 PIEZO1 G C exonic synonymous SNV PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A
16 88792047 2 PIEZO1 A G exonic synonymous SNV PIEZO1:NM_001142864:exon28:c.T4014C:p.F1338F RS4782430 Serum creatinine:Bipolar disorder versus schizophrenia:Gene expression of FAM38A in peripheral blood monocytes:Gene expression of SNAI3 in peripheral blood monocytes
16 88803124 2 PIEZO1 T C exonic nonsynonymous SNV PIEZO1:NM_001142864:exon11:c.A1219G:p.R407G
16 88804734 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon7:c.T749C:p.V250A RS7184427 LDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Triglycerides change with statins:Height
16 88808743 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon3:c.T248C:p.I83T RS6500495 Gene expression of SNAI3 in peripheral blood monocytes
16 88872145 2 CDT1 T C exonic nonsynonymous SNV CDT1:NM_030928:exon5:c.T700C:p.C234R
16 88872229 2 CDT1 A G exonic nonsynonymous SNV CDT1:NM_030928:exon5:c.A784G:p.T262A RS480727 Eye color:Total cholesterol:Gene expression of APRT in blood:Gene expression of TRAPPC2L in blood
16 88872511 2 CDT1 T C exonic synonymous SNV CDT1:NM_030928:exon6:c.T915C:p.H305H RS510862 Rheumatoid arthritis:2 hour glucose:Total cholesterol:LDL cholesterol:Age at death with kuru exposure:Salmonella-induced pyroptosis:Gene expression of CTU2 (ENSG00000174177) in dendritic cells treated with Mycobacterium tuberculosis
16 89294184 2 ZNF778 G A exonic synonymous SNV ZNF778:NM_182531:exon6:c.G1404A:p.A468A,ZNF778:NM_001201407:exon7:c.G1488A:p.A496A
16 89294511 2 ZNF778 C T exonic synonymous SNV ZNF778:NM_182531:exon6:c.C1731T:p.T577T,ZNF778:NM_001201407:exon7:c.C1815T:p.T605T
16 89783187 2 VPS9D1 C T exonic synonymous SNV VPS9D1:NM_004913:exon3:c.G219A:p.K73K
17 648498 2 GEMIN4 C T exonic nonsynonymous SNV GEMIN4:NM_015721:exon2:c.G2785A:p.D929N RS2740349 Arthritis including non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:Gene expression of VPS53 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
17 649935 2 GEMIN4 G C exonic nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E RS2740348 Comorbid depressive syndrome and alcohol dependence
17 970413 2 ABR C T exonic synonymous SNV ABR:NM_001282149:exon5:c.G432A:p.E144E,ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_001322840:exon10:c.G948A:p.E316E,ABR:NM_001322841:exon10:c.G1863A:p.E621E,ABR:NM_021962:exon10:c.G1086A:p.E362E RS2262150 Waist hip ratio:Gene expression of TIMM22 in blood:Infant head circumference
17 1384066 2 MYO1C A G exonic synonymous SNV MYO1C:NM_001080779:exon6:c.T741C:p.G247G,MYO1C:NM_001080950:exon6:c.T684C:p.G228G,MYO1C:NM_033375:exon6:c.T636C:p.G212G
17 1611433 2 TLCD2 A G exonic synonymous SNV TLCD2:NM_001164407:exon4:c.T426C:p.S142S RS4790809 PROP taste detection threshold:Salmonella-induced pyroptosis
17 1637302 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L RS3809872 Gene expression of RPA1 (ENSG00000132383) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
17 1639458 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T
17 1680002 2 SERPINF1 T C exonic synonymous SNV SERPINF1:NM_001329905:exon3:c.T402C:p.Y134Y,SERPINF1:NM_001329904:exon6:c.T402C:p.Y134Y,SERPINF1:NM_001329903:exon7:c.T963C:p.Y321Y,SERPINF1:NM_002615:exon7:c.T963C:p.Y321Y RS6828 Cystatin C in serum:Gene expression of RPA1 in peripheral blood monocytes:Microalbuminuria:Urinary albumin-to-creatinine ratio:Paternal transmission distortion
17 1686410 2 SMYD4 T C exonic nonsynonymous SNV SMYD4:NM_052928:exon10:c.A2180G:p.Y727C RS9902398 Gene expression of SERPINF1 [probe 3705967] in peripheral blood mononuclear cells:Late onset Alzheimer's disease:Gene expression of RPA1///ENST00000342279 in blood:Years of education:College completion:Hypertension (early onset hypertension):Maternal transmission distortion
17 1690752 2 SMYD4 G A exonic nonsynonymous SNV SMYD4:NM_052928:exon6:c.C1684T:p.R562W
17 1782957 2 RPA1 C T exonic synonymous SNV RPA1:NM_002945:exon11:c.C1056T:p.S352S
17 1943888 2 DPH1 T C exonic synonymous SNV DPH1:NM_001346576:exon8:c.T591C:p.P197P,DPH1:NM_001346574:exon9:c.T948C:p.P316P,DPH1:NM_001346575:exon9:c.T915C:p.P305P,DPH1:NM_001383:exon9:c.T1011C:p.P337P
17 2203167 1 SMG6 T G exonic nonsynonymous SNV SMG6:NM_017575:exon2:c.A880C:p.K294Q RS216195 Aortic root size:Total cholesterol:LDL cholesterol:Gene expression of SRR in CD4+ lymphocytes:Neuroblastoma (brain cancer):Systolic blood pressure (SBP):Gene expression of SRR (probeID ILMN_1753515) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of SRR (probeID ILMN_1753515) in temporal cortex in Alzheimer's disease cases and controls:College completion:Parkinson's disease:Hypertension (early onset hypertension):Aortic valve calcium
17 2203348 2 SMG6 T C exonic synonymous SNV SMG6:NM_017575:exon2:c.A699G:p.P233P RS216194 5-hydroxyindoleacetic acid (HIAA)
17 2268311 1 SGSM2 G A exonic nonsynonymous SNV SGSM2:NM_001098509:exon10:c.G1121A:p.R374Q,SGSM2:NM_001346700:exon10:c.G1121A:p.R374Q,SGSM2:NM_014853:exon10:c.G1121A:p.R374Q RS2248821 HOMA-IR:Fasting insulin:HDL cholesterol:Total cholesterol:HDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Gene expression of TSR1 (ENSG00000167721) in dendritic cells:Mitral annular calcium:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 3514028 2 SHPK G C exonic nonsynonymous SNV SHPK:NM_013276:exon7:c.C1263G:p.D421E
17 3561396 2 CTNS C T exonic nonsynonymous SNV CTNS:NM_001031681:exon10:c.C779T:p.T260I,CTNS:NM_004937:exon10:c.C779T:p.T260I
17 4046101 2 ZZEF1 A G exonic nonsynonymous SNV ZZEF1:NM_015113:exon1:c.T89C:p.V30A
17 4088291 2 ANKFY1 C T exonic synonymous SNV ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T
17 4455500 2 MYBBP1A T C exonic synonymous SNV MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A
17 4575283 2 PELP1 A G exonic synonymous SNV PELP1:NM_014389:exon16:c.T3153C:p.P1051P
17 4641755 2 CXCL16 C T exonic synonymous SNV CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G
17 4693170 2 GLTPD2 T C exonic nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.T455C:p.V152A
17 4693342 2 GLTPD2 C A exonic nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.C627A:p.D209E
17 4701019 2 PSMB6 C T exonic synonymous SNV PSMB6:NM_001270481:exon4:c.C345T:p.S115S,PSMB6:NM_002798:exon4:c.C345T:p.S115S
17 4718776 2 PLD2 G A exonic synonymous SNV PLD2:NM_001243108:exon13:c.G1179A:p.E393E,PLD2:NM_002663:exon13:c.G1179A:p.E393E
17 4796286 2 MINK1 C T exonic nonsynonymous SNV MINK1:NM_015716:exon19:c.C2213T:p.P738L,MINK1:NM_170663:exon19:c.C2213T:p.P738L,MINK1:NM_001024937:exon20:c.C2264T:p.P755L,MINK1:NM_001321236:exon20:c.C2048T:p.P683L,MINK1:NM_153827:exon20:c.C2324T:p.P775L RS11556635 Gene expression of MINK1 in Frontal cortex:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in non-Alzheimer's disease samples:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in non-Alzheimer's disease samples:Gene expression of CHRNE (ENSG00000108556) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Progressive Supranuclear Palsy cases:Birth weight:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases
17 5280440 2 RABEP1 T C exonic synonymous SNV RABEP1:NM_001291581:exon13:c.T1926C:p.R642R,RABEP1:NM_001083585:exon14:c.T2055C:p.R685R,RABEP1:NM_004703:exon14:c.T2055C:p.R685R RS3026101 Gene expression of RABEP1 [probe 225092_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225064_at] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707692] in lymphoblastoid cell lines:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of RABEP1 (probeID ILMN_1719622) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases and controls
17 5284698 2 RABEP1 A G exonic synonymous SNV RABEP1:NM_001083585:exon16:c.A2286G:p.Q762Q,RABEP1:NM_001291581:exon16:c.A2256G:p.Q752Q,RABEP1:NM_004703:exon17:c.A2385G:p.Q795Q
17 5284719 2 RABEP1 T C exonic synonymous SNV RABEP1:NM_001083585:exon16:c.T2307C:p.N769N,RABEP1:NM_001291581:exon16:c.T2277C:p.N759N,RABEP1:NM_004703:exon17:c.T2406C:p.N802N RS1065482 Gene expression of RABEP1 [probe 214552_s_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225092_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225064_at] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707692] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707689] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707691] in lymphoblastoid cell lines:HDL cholesterol:Gene expression of RABEP1 in Frontal cortex:LDL cholesterol:Body mass index (BMI):Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in non-Alzheimer's disease samples:Gene expression of RABEP1 (probeID ILMN_1719622) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases and controls
17 5284770 2 RABEP1 G A exonic synonymous SNV RABEP1:NM_001083585:exon16:c.G2358A:p.R786R,RABEP1:NM_001291581:exon16:c.G2328A:p.R776R,RABEP1:NM_004703:exon17:c.G2457A:p.R819R RS1065483 Gene expression of RABEP1 in YRI lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225064_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe 214552_s_at] in lymphoblastoid cell lines:Gene expression of RABEP1 [probe 225092_at] in lymphoblastoid cell lines:Gene expression of RABEP1 in liver:Differential splicing of RABEP1 [probeset 3707692] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707689] in lymphoblastoid cell lines:Differential splicing of RABEP1 [probeset 3707691] in lymphoblastoid cell lines:LDL cholesterol:Differential exon level expression of RPAIN [probe 3707720] in brain cortex:Differential exon level expression of RABEP1 [probe 3707690] in brain cortex:Gene expression of RPAIN [probe 3707715] in brain cortex:Differential exon level expression of RABEP1 [probe 3707691] in brain cortex:Differential exon level expression of RABEP1 [probe 3707690] in peripheral blood mononuclear cells:Differential exon level expression of RPAIN [probe 3707720] in peripheral blood mononuclear cells:Gene expression of RABEP1 probe [GI_31377797-S] in brain cortex with no Alzheimer's interaction:Gene expression of RABEP1 [probe ILMN_18056] in osteoblasts:Major depressive disorder:Gene expression of RABEP1 in Frontal cortex:Gene expression of RABEP1 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Gene expression of RABEP1 in CD4+ lymphocytes:Body mass index (BMI):Gene expression of RABEP1 [probe ILMN_18056] in osteoblasts treated with PGE2:Gene expression of RABEP1 [probe ILMN_18056] in untreated osteoblasts:Gene expression of NLRP1 [transcript NM_014922, probe A_23_P89550] in liver:Gene expression of RABEP1 [transcript NM_001083585, probe 4120475] in liver:Chronic obstructive pulmonary disease (COPD):Gene expression of NUP88 [probeset 230274_s_at] in sputum:Resistance to kuru in aged women despite likely exposure:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases:Gene expression change of NUP88 (ENSG00000108559) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of RABEP1 (probeID ILMN_1719622) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of DHX33 (ENSG00000005100) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of RABEP1 (probeID ILMN_1719622) in temporal cortex in non-Alzheimer's disease samples:Gene expression of RABEP1 (probeID ILMN_1719622) in whole blood
17 5289580 2 NUP88 A G exonic synonymous SNV NUP88:NM_001320653:exon17:c.T2220C:p.H740H,NUP88:NM_002532:exon17:c.T2172C:p.H724H RS11209 Schizophrenia:Gene expression of RABEP1 in peripheral blood monocytes:Body mass index (BMI) (max measurement):Gene expression of HS.543501 (probeID ILMN_1860878) in breast tumors
17 5294976 2 NUP88 T A exonic synonymous SNV NUP88:NM_001320653:exon10:c.A1389T:p.P463P,NUP88:NM_002532:exon10:c.A1389T:p.P463P
17 5347576 2 DHX33 G A exonic synonymous SNV DHX33:NM_001199699:exon11:c.C1554T:p.Y518Y,DHX33:NM_020162:exon12:c.C2073T:p.Y691Y RS2074438 Gene expression of MIS12 in peripheral blood monocytes:Gene expression of RABEP1 in peripheral blood monocytes:Microalbuminuria:Gene expression change of C1QBP (ENSG00000108561) in dendritic cells after treatment with Mycobacterium tuberculosis
17 6493198 2 KIAA0753 T C exonic nonsynonymous SNV KIAA0753:NM_001351225:exon18:c.A1790G:p.Q597R,KIAA0753:NM_014804:exon18:c.A2687G:p.Q896R RS1443417 Irritible bowel syndrome:Differential exon level expression of KIAA0753 [probe 3743144] in brain cortex:HDL cholesterol:Gene expression of XAF1///FBXO39 in blood:Gene expression of KIAA0753 [probeset 204711_at] in sputum:Parkinson's disease:Birth weight
17 6515387 2 KIAA0753 A G exonic nonsynonymous SNV KIAA0753:NM_001351225:exon8:c.T500C:p.L167P,KIAA0753:NM_014804:exon8:c.T1397C:p.L466P RS2289642 Irritible bowel syndrome:Differential exon level expression of KIAA0753 [probe 3743144] in brain cortex:HDL cholesterol:Gene expression of XAF1///FBXO39 in blood:Gene expression of KIAA0753 [probeset 204711_at] in sputum:Gene expression of MED31 [probeset 219318_x_at] in sputum:Gene expression of TXNDC17 [probeset 228743_at] in sputum:Parkinson's disease
17 6531648 2 KIAA0753 A G exonic synonymous SNV KIAA0753:NM_014804:exon3:c.T507C:p.S169S RS2072149 HDL cholesterol:Parkinson's disease
17 7217463 2 GPS2 T C exonic synonymous SNV GPS2:NM_004489:exon5:c.A333G:p.L111L RS2292064 Gene expression of EIF5A in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 213757_at in lymphoblastoid cell lines:Gene expression of EIF5A [probe 213753_x_at] in lymphoblastoid cell lines:Gene expression of EIF5A [probe 201122_x_at] in lymphoblastoid cell lines:Gene expression of EIF5A [probe 201123_s_at] in lymphoblastoid cell lines:HDL cholesterol:Gene expression of EIF5AL1 in Fibroblasts:Gene expression of EIF5AL1 in Lymphoblastoid cell lines:HOMA-B:Gene expression of EIF5A in Temporal cortex:Gene expression of EIF5A in Cerebellum:Gene expression of EIF5A in Frontal cortex:Gene expression of EIF5A in Caudal pons:Gene expression of EIF5A [probe ILMN_26100] in osteoblasts treated with BMP2:Gene expression of EIF5A [probe ILMN_26100] in osteoblasts treated with PGE2:Gene expression of EIF5A in liver:Obesity with early age of onset (age >2)
17 7318396 2 NLGN2 C T exonic synonymous SNV NLGN2:NM_020795:exon5:c.C966T:p.S322S RS2241233 Eye color:Alzheimer's disease:HDL cholesterol:LDL cholesterol:Total cholesterol:Age at menarche:Gene expression of [probe 6290132 centered at chr17:7084491] in blood:Acute lung injury following major trauma:Circulating sex hormone-binding globulin levels in non-postmenopausal hormone users:Serum testosterone (T) level:Serum dihydrotestosterone (DHT) level:Circulating sex hormone-binding globulin levels
17 7400137 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon5:c.T592C:p.L198L
17 7404107 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon11:c.T1821C:p.S607S
17 7404991 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon14:c.T2292C:p.N764N RS2228130 Ischemic stroke:Fasting insulin:HDL cholesterol change with statins:HDL cholesterol:Waist hip ratio:Gene expression of TNFSF13 [transcript NM_003808, probe A_23_P152620] in liver:Serum testosterone (T) level:Serum dihydrotestosterone (DHT) level
17 7416683 2 POLR2A A G exonic synonymous SNV POLR2A:NM_000937:exon29:c.A5100G:p.S1700S
17 7417086 2 POLR2A G A exonic nonsynonymous SNV POLR2A:NM_000937:exon29:c.G5503A:p.A1835T
17 7477938 2 EIF4A1 G C exonic synonymous SNV EIF4A1:NM_001204510:exon3:c.G147C:p.A49A,EIF4A1:NM_001416:exon3:c.G147C:p.A49A
17 7579472 2 TP53 G C exonic nonsynonymous SNV TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_000546:exon4:c.C215G:p.P72R,TP53:NM_001126112:exon4:c.C215G:p.P72R,TP53:NM_001126113:exon4:c.C215G:p.P72R,TP53:NM_001126114:exon4:c.C215G:p.P72R,TP53:NM_001276695:exon4:c.C98G:p.P33R,TP53:NM_001276696:exon4:c.C98G:p.P33R,TP53:NM_001276760:exon4:c.C98G:p.P33R,TP53:NM_001276761:exon4:c.C98G:p.P33R RS1042522 LDL cholesterol:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Circulating sex hormone-binding globulin levels in non-postmenopausal hormone users:Gene expression change of CD68 (ENSG00000129226) in dendritic cells after treatment with Mycobacterium tuberculosis:Circulating sex hormone-binding globulin levels
17 7750232 2 KDM6B T C exonic synonymous SNV KDM6B:NM_001080424:exon9:c.T807C:p.A269A,KDM6B:NM_001348716:exon9:c.T807C:p.A269A
17 7760704 2 NAA38 A G exonic nonsynonymous SNV NAA38:NM_032356:exon1:c.T38C:p.L13P RS8522 Birth weight
17 8416901 2 MYH10 C T exonic synonymous SNV MYH10:NM_005964:exon21:c.G2607A:p.T869T,MYH10:NM_001256095:exon22:c.G2634A:p.T878T,MYH10:NM_001256012:exon23:c.G2700A:p.T900T RS11374 Serum creatinine:Birth weight
17 8424270 2 MYH10 G A exonic synonymous SNV MYH10:NM_005964:exon17:c.C2106T:p.N702N,MYH10:NM_001256095:exon18:c.C2133T:p.N711N,MYH10:NM_001256012:exon19:c.C2199T:p.N733N
17 9395231 2 STX8 G A exonic synonymous SNV STX8:NM_004853:exon6:c.C456T:p.D152D RS9893664 HOMA-B:Advanced age-related macular degeneration:Mitral annular calcium
17 9471711 2 STX8 T G exonic synonymous SNV STX8:NM_004853:exon2:c.A94C:p.R32R RS1133295 Urinary albumin-to-creatinine ratio:Asparagine:Histidine
17 10614442 2 ADPRM A G exonic nonsynonymous SNV ADPRM:NM_020233:exon4:c.A1010G:p.E337G RS406446 Gene expression of TMEM220 [probe 229693_at] in lymphoblastoid cell lines:Differential exon level expression of C17orf48 [probe 3710287] in brain cortex:Differential exon level expression of C17orf48 [probe 3710287] in peripheral blood mononuclear cells:Gene expression of C17orf48 [probe 3710277] in brain cortex:Differential exon level expression of C17orf48 [probe 3710284] in peripheral blood mononuclear cells:Gene expression of C17orf48 [probe 3710277] in peripheral blood mononuclear cells:2 hour glucose:Methylation levels at chr17:10542726-10542776 [hg18 coord, probe cg12478185] in Temporal cortex:Gene expression of SCO1 in blood:Gene expression of TMEM220 in blood:Gene expression of AC002347.1 in blood:Gene expression of MYH3 in blood:Gene expression of AC002347.1///TMEM220 in blood:Gene expression of C17orf48 [probeset 223401_at] in sputum:Gene expression of TMEM220 [probeset 229693_at] in sputum:Gene expression of TMEM220 in normal prepouch ileum:Gene expression of C17orf48 in normal prepouch ileum:Gene expression of SCO1 in normal prepouch ileum:Tetrology of fallot
17 15341183 1 CDRT4 A C exonic nonsynonymous SNV CDRT4:NM_001204477:exon4:c.T366G:p.H122Q RS2954759 Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy)
17 16859628 2
17 17696531 2 RAI1 G C exonic nonsynonymous SNV RAI1:NM_030665:exon3:c.G269C:p.G90A
17 17696755 2 RAI1 C A exonic nonsynonymous SNV RAI1:NM_030665:exon3:c.C493A:p.P165T RS11649804 Triglycerides:Triglycerides:Waist hip ratio:Body mass index (BMI):Parkinson's disease (PD):Gene expression of RAI1///SREBF1 in blood:Gene expression of SREBF1 in blood:Age at death with kuru exposure:College completion:Adiponectin levels:Salmonella-induced pyroptosis
17 18694277 2 TVP23B G A exonic nonsynonymous SNV TVP23B:NM_001316924:exon3:c.G164A:p.G55E,TVP23B:NM_016078:exon3:c.G164A:p.G55E
17 22023422 2 MTRNR2L1 C T exonic nonsynonymous SNV MTRNR2L1:NM_001190452:exon1:c.C35T:p.S12L
17 26684394 2 POLDIP2 T G exonic unknown UNKNOWN
17 26684449 2 POLDIP2 G C exonic unknown UNKNOWN
17 27835138 2 TAOK1 C T exonic synonymous SNV TAOK1:NM_020791:exon14:c.C1563T:p.A521A,TAOK1:NM_025142:exon14:c.C1563T:p.A521A RS508706 HDL cholesterol change with statins:Cystatin C in serum:HDL cholesterol:Height:Body mass index (BMI):Diastolic blood pressure (DBP):PROP taste detection threshold
17 29508775 2 NF1 G A exonic synonymous SNV NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L RS1801052 LDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):LDL cholesterol:Total cholesterol:Total cholesterol:LDL cholesterol:Height:Waist hip ratio:Body mass index (BMI):Gene expression of NF1 in normal prepouch ileum:Obesity with early age of onset (age >2)
17 30302581 1 SUZ12 C T exonic synonymous SNV SUZ12:NM_001321207:exon6:c.C603T:p.P201P,SUZ12:NM_015355:exon7:c.C672T:p.P224P
17 30302638 1 SUZ12 T C exonic synonymous SNV SUZ12:NM_001321207:exon6:c.T660C:p.H220H,SUZ12:NM_015355:exon7:c.T729C:p.H243H
17 30302681 1 SUZ12 G A exonic nonsynonymous SNV SUZ12:NM_001321207:exon6:c.G703A:p.G235R,SUZ12:NM_015355:exon7:c.G772A:p.G258R
17 33288363 2 CCT6B C T exonic nonsynonymous SNV CCT6B:NM_001193529:exon1:c.G50A:p.R17Q,CCT6B:NM_001193530:exon1:c.G50A:p.R17Q,CCT6B:NM_006584:exon1:c.G50A:p.R17Q RS9635769 Gene expression of LIG3 in CD4+ lymphocytes:Gene expression of ZNF830 in blood:Gene expression of LIG3 in blood:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 33288882 2 ZNF830 T G exonic nonsynonymous SNV ZNF830:NM_052857:exon1:c.T297G:p.H99Q RS931196 Fasting blood glucose:Rheumatoid arthritis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
17 33445549 2 RAD51D G A exonic synonymous SNV RAD51D:NM_002878:exon3:c.C234T:p.S78S
17 33464864 2 NLE1 C T exonic nonsynonymous SNV NLE1:NM_018096:exon5:c.G506A:p.R169K RS7215209 HOMA-B:Comorbid depressive syndrome and alcohol dependence:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
17 33998802 2 AP2B1 G C exonic synonymous SNV AP2B1:NM_001282:exon15:c.G2019C:p.V673V,AP2B1:NM_001030006:exon16:c.G2061C:p.V687V
17 34942595 2 GGNBP2 G A exonic synonymous SNV GGNBP2:NM_024835:exon12:c.G1608A:p.K536K RS1106908 Methylation levels at chr17:31454581-31454631 [hg18 coord, probe cg20657421] in Caudal pons:Gene expression of MGC4172 in Frontal cortex:Total cholesterol:Triglycerides:LDL cholesterol:Waist hip ratio:Body mass index (BMI):Urinary albumin-to-creatinine ratio:PROP taste detection threshold:Salmonella-induced pyroptosis
17 35478362 2 ACACA T C exonic synonymous SNV ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T
17 36861983 2 MLLT6 T C exonic nonsynonymous SNV MLLT6:NM_005937:exon1:c.T98C:p.V33A
17 37898543 2 GRB7 T C exonic nonsynonymous SNV GRB7:NM_001242442:exon2:c.T58C:p.C20R
17 39681475 2 KRT19 A G exonic synonymous SNV KRT19:NM_002276:exon2:c.T471C:p.N157N
17 39684321 2 KRT19 G C exonic nonsynonymous SNV KRT19:NM_002276:exon1:c.C179G:p.A60G
17 39983808 2 NT5C3B G C exonic nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C638G:p.S213C RS1046404 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of NT5C3L (probeID ILMN_1750511) in whole blood:Gene expression of SC65 (ENSG00000141696) in dendritic cells treated with Mycobacterium tuberculosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Gene expression of ACLY (ENSG00000131473) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of NT5C3L (ENSG00000141698) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of KLHL11 (ENSG00000178502) in dendritic cells treated with Mycobacterium tuberculosis
17 39983820 2 NT5C3B G A exonic nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C626T:p.A209V RS1046403 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:Gene expression of NT5C3L in lymphoblastoid cell lines:Eye color:Gene expression of NT5C3L in blood cells in Celiac disease:Schizophrenia:Differential exon level expression of NT5C3L [probe 3757413] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757403] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757407] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757404] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757414] in peripheral blood mononuclear cells:Gene expression of JUP [probe 3757329] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757405] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757409] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757418] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe 3757399] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757408] in peripheral blood mononuclear cells:Gene expression of NT5C3L [transcript ID 3757399] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts:NT5C3L gene expression in lymphoblastoid cell lines:Lp-PLA2 mass:Gene expression of NT5C3L in CD4+ lymphocytes:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with dexamethasone:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with PGE2:Gene expression of NT5C3L [probe ILMN_24101] in untreated osteoblasts:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with BMP2:Gene expression of JUP in blood:Gene expression of TTC25 in blood:Gene expression of NT5C3L in blood:Gene expression of NT5C3L [probeset 225044_at] in sputum:Gene expression of NT5C3L in liver:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 39983849 2 NT5C3B G C exonic synonymous SNV NT5C3B:NM_052935:exon8:c.C597G:p.L199L RS1128966 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 39987130 2 NT5C3B T C exonic synonymous SNV NT5C3B:NM_052935:exon6:c.A327G:p.A109A RS4796712 Gene expression of MGC20781 in YRI lymphoblastoid cell lines:Gene expression of JUP [probe 3757329] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757355] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757338] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe 3757399] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757339] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757337] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757405] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757361] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757353] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757356] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757351] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757352] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757359] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757336] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757357] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757349] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757341] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757343] in peripheral blood mononuclear cells:Rheumatoid arthritis:NT5C3L gene expression in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Fasting blood glucose:Gene expression of NT5C3L in CD4+ lymphocytes:Gene expression of JUP in CD4+ lymphocytes:Gene expression of NT5C3L in blood:Gene expression of JUP in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NT5C3L in normal prepouch ileum
17 40010979 2 KLHL11 G A exonic synonymous SNV KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y RS3744782 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:HOMA-B:Advanced age-related macular degeneration:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of NT5C3L (probeID ILMN_1750511) in whole blood:Refractive error
17 40048613 2 ACLY A G exonic synonymous SNV ACLY:NM_001303275:exon15:c.T1821C:p.H607H,ACLY:NM_198830:exon15:c.T1659C:p.H553H,ACLY:NM_001096:exon16:c.T1689C:p.H563H,ACLY:NM_001303274:exon16:c.T1851C:p.H617H RS8065502 Fasting insulin:HOMA-IR:Autism with high IQ:Advanced age-related macular degeneration:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of ACLY in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
17 40689455 2 NAGLU T C exonic synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S RS659497 Diastolic blood pressure (DBP)
17 40696233 2 NAGLU C G exonic nonsynonymous SNV NAGLU:NM_000263:exon6:c.C2209G:p.R737G RS86312 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:HOMA-IR:Fasting insulin:Chronic kidney disease:Triglycerides:HDL cholesterol:Acute lung injury following major trauma:Birth weight
17 40822308 2 PLEKHH3 C A exonic nonsynonymous SNV PLEKHH3:NM_024927:exon11:c.G1641T:p.Q547H
17 41116234 2 AARSD1;PTGES3L-AARSD1 G A exonic synonymous SNV AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S
17 41133071 2 RUNDC1 T C exonic nonsynonymous SNV RUNDC1:NM_001321381:exon1:c.T478C:p.W160R,RUNDC1:NM_173079:exon1:c.T478C:p.W160R
17 41165878 2 IFI35 C T exonic synonymous SNV IFI35:NM_001330230:exon6:c.C648T:p.N216N,IFI35:NM_005533:exon6:c.C654T:p.N218N
17 41231404 2 BRCA1 T C exonic nonsynonymous SNV BRCA1:NM_007300:exon13:c.A4370G:p.H1457R
17 41231405 2 BRCA1 G A exonic nonsynonymous SNV BRCA1:NM_007300:exon13:c.C4369T:p.H1457Y
17 41959808 2 MPP2 T C exonic synonymous SNV MPP2:NM_001278371:exon5:c.A492G:p.Q164Q,MPP2:NM_001278373:exon5:c.A492G:p.Q164Q,MPP2:NM_001278374:exon5:c.A108G:p.Q36Q,MPP2:NM_001278375:exon5:c.A492G:p.Q164Q,MPP2:NM_001278376:exon5:c.A576G:p.Q192Q,MPP2:NM_001278370:exon6:c.A660G:p.Q220Q,MPP2:NM_005374:exon6:c.A525G:p.Q175Q,MPP2:NM_001278372:exon7:c.A597G:p.Q199Q,MPP2:NM_001278381:exon7:c.A525G:p.Q175Q RS124721 Triglycerides:HDL cholesterol:HOMA-IR:Total cholesterol:Triglycerides:HDL cholesterol
17 41960343 2 MPP2 T C exonic synonymous SNV MPP2:NM_001278371:exon4:c.A348G:p.T116T,MPP2:NM_001278373:exon4:c.A348G:p.T116T,MPP2:NM_001278375:exon4:c.A348G:p.T116T,MPP2:NM_001278376:exon4:c.A432G:p.T144T,MPP2:NM_001278370:exon5:c.A516G:p.T172T,MPP2:NM_005374:exon5:c.A381G:p.T127T,MPP2:NM_001278372:exon6:c.A453G:p.T151T,MPP2:NM_001278381:exon6:c.A381G:p.T127T RS124719 Stabilized warfarin dose:Triglycerides:HDL cholesterol:HOMA-IR:Fasting insulin:Triglycerides:HDL cholesterol:Asthma
17 41960633 2 MPP2 C G exonic nonsynonymous SNV MPP2:NM_001278371:exon3:c.G208C:p.V70L,MPP2:NM_001278373:exon3:c.G208C:p.V70L,MPP2:NM_001278375:exon3:c.G208C:p.V70L,MPP2:NM_001278376:exon3:c.G292C:p.V98L,MPP2:NM_001278370:exon4:c.G376C:p.V126L,MPP2:NM_005374:exon4:c.G241C:p.V81L,MPP2:NM_001278372:exon5:c.G313C:p.V105L,MPP2:NM_001278381:exon5:c.G241C:p.V81L
17 41960634 2 MPP2 G C exonic nonsynonymous SNV MPP2:NM_001278371:exon3:c.C207G:p.H69Q,MPP2:NM_001278373:exon3:c.C207G:p.H69Q,MPP2:NM_001278375:exon3:c.C207G:p.H69Q,MPP2:NM_001278376:exon3:c.C291G:p.H97Q,MPP2:NM_001278370:exon4:c.C375G:p.H125Q,MPP2:NM_005374:exon4:c.C240G:p.H80Q,MPP2:NM_001278372:exon5:c.C312G:p.H104Q,MPP2:NM_001278381:exon5:c.C240G:p.H80Q
17 42398052 2 SLC25A39 A G exonic nonsynonymous SNV SLC25A39:NM_001321240:exon8:c.T670C:p.F224L,SLC25A39:NM_001143780:exon9:c.T739C:p.F247L,SLC25A39:NM_001321241:exon9:c.T733C:p.F245L,SLC25A39:NM_016016:exon9:c.T715C:p.F239L RS2011951 Differential splicing of CGI-69 [probeset 3759083] in lymphoblastoid cell lines:Differential exon level expression of SLC25A39 [probe 3759083] in peripheral blood mononuclear cells:Differential exon level expression of SLC25A39 [probe 3759083] in brain cortex:Fasting blood glucose:Chronic kidney disease:Gene expression of TMUB2///ATXN7L3 in blood:Gene expression of GRN///FAM171A2 in blood:Gene expression of AC003102.4 in blood:Gene expression of RUNDC3A in blood:Hypertension (early onset hypertension)
17 43555372 1 PLEKHM1 C T exonic nonsynonymous SNV PLEKHM1:NM_014798:exon3:c.G190A:p.A64T
17 44144993 2 KANSL1 C G exonic nonsynonymous SNV KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P
17 45656826 1 NPEPPS A G exonic synonymous SNV NPEPPS:NM_006310:exon4:c.A489G:p.K163K,NPEPPS:NM_001330257:exon5:c.A477G:p.K159K
17 45915788 2 SCRN2 T C exonic nonsynonymous SNV SCRN2:NM_001145023:exon7:c.A967G:p.M323V,SCRN2:NM_138355:exon7:c.A967G:p.M323V RS7350974 Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
17 45994044 2 SP2 C T exonic synonymous SNV SP2:NM_003110:exon3:c.C607T:p.L203L RS2228253 Urinary albumin-to-creatinine ratio
17 45994094 2 SP2 T C exonic synonymous SNV SP2:NM_003110:exon3:c.T657C:p.L219L RS2228251 Urinary albumin-to-creatinine ratio
17 45994154 2 SP2 G A exonic synonymous SNV SP2:NM_003110:exon3:c.G717A:p.P239P RS2229358 Differential exon level expression of OSBPL7 [probe 3760921] in peripheral blood mononuclear cells:Gene expression of OSBPL7 [probe 3760894] in peripheral blood mononuclear cells:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Information processing speed (8-choice reaction time):Urinary albumin-to-creatinine ratio:Gene expression of SP2 in blood:Hypertension (early onset hypertension)
17 46002744 2 SP2 G T exonic synonymous SNV SP2:NM_003110:exon6:c.G1578T:p.V526V
17 46688256 2 HOXB7 T C exonic nonsynonymous SNV HOXB7:NM_004502:exon1:c.A25G:p.T9A RS7406910 LDL cholesterol:Obesity with early age of onset (age >2):Acute lung injury following major trauma
17 47000251 2 UBE2Z C T exonic synonymous SNV UBE2Z:NM_023079:exon6:c.C846T:p.Y282Y RS1058018 Fat mass:HDL cholesterol:Gene expression of ATP5G1 in Frontal cortex:HDL cholesterol:Height:Waist hip ratio:Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education:College completion:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference:Gene expression change of ATP5G1 (ENSG00000159199) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in Alzheimer's disease cases and controls
17 47444985 2
17 47888852 2 KAT7 A G exonic synonymous SNV KAT7:NM_001199158:exon4:c.A261G:p.R87R,KAT7:NM_001199156:exon5:c.A351G:p.R117R,KAT7:NM_001199157:exon5:c.A438G:p.R146R,KAT7:NM_001199155:exon6:c.A678G:p.R226R,KAT7:NM_001346706:exon6:c.A528G:p.R176R,KAT7:NM_007067:exon7:c.A768G:p.R256R
17 48174908 2 PDK2 C T exonic synonymous SNV PDK2:NM_001199899:exon2:c.C48T:p.S16S,PDK2:NM_001199900:exon2:c.C240T:p.S80S,PDK2:NM_002611:exon2:c.C240T:p.S80S,PDK2:NM_001199898:exon3:c.C48T:p.S16S
17 48629458 2 SPATA20 A G exonic nonsynonymous SNV SPATA20:NM_001258372:exon13:c.A1826G:p.K609R,SPATA20:NM_001258373:exon14:c.A1694G:p.K565R,SPATA20:NM_022827:exon14:c.A1874G:p.K625R RS8065903 Gene expression of SPATA20 [probe 218164_at] in lymphoblastoid cell lines:Gene expression of SPATA20 in blood cells in Celiac disease:Schizophrenia:Differential exon level expression of SPATA20 [probe 3726601] in brain cortex:Differential exon level expression of SPATA20 [probe 3726597] in brain cortex:Gene expression of SPATA20 [probe 3726569] in peripheral blood mononuclear cells:Gene expression of SPATA20 in CD4+ lymphocytes:Gene expression of SPATA20 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of SPATA20 in normal prepouch ileum
17 49021537 2
17 53851228 2 PCTP C T exonic synonymous SNV PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I RS2960062 Neuroticism:Simpson-Angus Scale:Fasting blood glucose:HOMA-IR:Serum creatinine:Waist hip ratio:Microalbuminuria:Obesity with early age of onset (age >2)
17 54978794 2 TRIM25 G A exonic nonsynonymous SNV TRIM25:NM_005082:exon4:c.C1073T:p.P358L RS205498 HDL cholesterol:HOMA-IR:Urinary albumin-to-creatinine ratio:Age at death with kuru exposure:Parkinson's disease
17 55027850 2 COIL T C exonic synonymous SNV COIL:NM_004645:exon2:c.A753G:p.E251E
17 55183203 2 AKAP1 T C exonic synonymous SNV AKAP1:NM_003488:exon2:c.T378C:p.D126D,AKAP1:NM_001242902:exon3:c.T378C:p.D126D,AKAP1:NM_001242903:exon3:c.T378C:p.D126D RS2230772 Triglycerides
17 57287454 2 SMG8 A G exonic synonymous SNV SMG8:NM_018149:exon1:c.A42G:p.A14A RS6503905 HDL cholesterol:Gene expression of SMG8 in normal prepouch ileum:Serum myeloperoxidase levels:College completion:Plasma myeloperoxidase levels:Years of education:Gene expression of C17orf71 (ENSG00000167447) in dendritic cells
17 57290383 2 SMG8 G A exonic synonymous SNV SMG8:NM_018149:exon3:c.G2199A:p.R733R RS3744383 HDL cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol:Partial epilepsy:Total cholesterol:Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob disease:Gene expression of GDPD1 (probeID ILMN_2106265) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GDPD1 (probeID ILMN_2106265) in cerebellum in Alzheimer's disease cases and controls
17 58786625 2 BCAS3 A G exonic nonsynonymous SNV BCAS3:NM_001099432:exon5:c.A260G:p.N87S,BCAS3:NM_001320470:exon5:c.A260G:p.N87S,BCAS3:NM_001330413:exon5:c.A260G:p.N87S,BCAS3:NM_001330414:exon5:c.A260G:p.N87S,BCAS3:NM_017679:exon5:c.A260G:p.N87S
17 59763465 2 BRIP1 T C exonic synonymous SNV BRIP1:NM_032043:exon19:c.A2637G:p.E879E RS4986765 Height:Neuroblastoma (brain cancer):Bipolar disorder
17 59955426 2 INTS2 T G exonic nonsynonymous SNV INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H
17 60043884 2 MED13 G A exonic synonymous SNV MED13:NM_005121:exon19:c.C4320T:p.D1440D
17 60491144 2 EFCAB3 T C exonic nonsynonymous SNV EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L
17 60491184 2 EFCAB3 C T exonic nonsynonymous SNV EFCAB3:NM_173503:exon9:c.C959T:p.T320I,EFCAB3:NM_001144933:exon11:c.C1115T:p.T372I
17 60493420 2 EFCAB3 G A exonic synonymous SNV EFCAB3:NM_173503:exon10:c.G1047A:p.E349E,EFCAB3:NM_001144933:exon12:c.G1203A:p.E401E
17 60493465 2 EFCAB3 G A exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.G1092A:p.M364I,EFCAB3:NM_001144933:exon12:c.G1248A:p.M416I
17 60493481 2 EFCAB3 T G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.T1108G:p.S370A,EFCAB3:NM_001144933:exon12:c.T1264G:p.S422A
17 60493599 2 EFCAB3 C G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.C1226G:p.S409C,EFCAB3:NM_001144933:exon12:c.C1382G:p.S461C
17 60493634 2 EFCAB3 T G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.T1261G:p.Y421D,EFCAB3:NM_001144933:exon12:c.T1417G:p.Y473D
17 60493662 2 EFCAB3 G A exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.G1289A:p.R430Q,EFCAB3:NM_001144933:exon12:c.G1445A:p.R482Q
17 60558503 1 TLK2 A G exonic nonsynonymous SNV TLK2:NM_001284363:exon1:c.A17G:p.H6R,TLK2:NM_001284333:exon2:c.A17G:p.H6R,TLK2:NM_006852:exon2:c.A17G:p.H6R
17 60558534 1 TLK2 G A exonic synonymous SNV TLK2:NM_001284363:exon1:c.G48A:p.L16L,TLK2:NM_001284333:exon2:c.G48A:p.L16L,TLK2:NM_006852:exon2:c.G48A:p.L16L
17 60601613 1 TLK2 C G exonic nonsynonymous SNV TLK2:NM_001284333:exon6:c.C284G:p.A95G,TLK2:NM_006852:exon6:c.C284G:p.A95G
17 60613663 1 TLK2 C T exonic stopgain TLK2:NM_001284363:exon5:c.C400T:p.Q134X,TLK2:NM_001284333:exon7:c.C496T:p.Q166X,TLK2:NM_001330418:exon7:c.C49T:p.Q17X,TLK2:NM_006852:exon7:c.C496T:p.Q166X
17 60613669 1 TLK2 G A exonic nonsynonymous SNV TLK2:NM_001284363:exon5:c.G406A:p.G136R,TLK2:NM_001284333:exon7:c.G502A:p.G168R,TLK2:NM_001330418:exon7:c.G55A:p.G19R,TLK2:NM_006852:exon7:c.G502A:p.G168R
17 60631078 1 TLK2 T C exonic synonymous SNV TLK2:NM_001284363:exon7:c.T586C:p.L196L,TLK2:NM_001284333:exon9:c.T682C:p.L228L,TLK2:NM_001330418:exon9:c.T235C:p.L79L,TLK2:NM_006852:exon9:c.T682C:p.L228L
17 60631088 1 TLK2 A G exonic nonsynonymous SNV TLK2:NM_001284363:exon7:c.A596G:p.K199R,TLK2:NM_001284333:exon9:c.A692G:p.K231R,TLK2:NM_001330418:exon9:c.A245G:p.K82R,TLK2:NM_006852:exon9:c.A692G:p.K231R
17 60637441 1 TLK2 G A exonic nonsynonymous SNV TLK2:NM_001284363:exon8:c.G689A:p.R230Q,TLK2:NM_001284333:exon10:c.G785A:p.R262Q,TLK2:NM_001330418:exon10:c.G338A:p.R113Q,TLK2:NM_006852:exon10:c.G785A:p.R262Q
17 60683503 2 TLK2 A G exonic synonymous SNV TLK2:NM_001284363:exon18:c.A1776G:p.P592P,TLK2:NM_001330418:exon20:c.A1425G:p.P475P,TLK2:NM_006852:exon20:c.A1872G:p.P624P,TLK2:NM_001284333:exon21:c.A1938G:p.P646P RS8078132 LDL cholesterol change with statins:Total cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 60758273 2 MRC2 G C exonic synonymous SNV MRC2:NM_006039:exon17:c.G2586C:p.S862S
17 62125272 2 ERN1 A G exonic synonymous SNV ERN1:NM_001433:exon19:c.T2475C:p.H825H
17 62141455 2 ERN1 A G exonic synonymous SNV ERN1:NM_001433:exon10:c.T978C:p.I326I
17 62892271 1 LRRC37A3 A T exonic nonsynonymous SNV LRRC37A3:NM_199340:exon4:c.T1105A:p.S369T
17 62893332 1 LRRC37A3 G C exonic nonsynonymous SNV LRRC37A3:NM_199340:exon4:c.C44G:p.P15R
17 65104743 2 HELZ G A exonic nonsynonymous SNV HELZ:NM_001330447:exon30:c.C4592T:p.A1531V,HELZ:NM_014877:exon30:c.C4589T:p.A1530V RS11653020 HDL cholesterol:Barnes Akathisia Rating Scale:HOMA-B:Total cholesterol:HDL cholesterol:PROP taste detection threshold:College completion:Primary rhegmatogenous retinal detachment:Transmission distortion:Paternal transmission distortion
17 65988049 2 C17orf58 T C exonic nonsynonymous SNV C17orf58:NM_181655:exon3:c.A274G:p.I92V RS9891146 Bipolar disorder:Gene expression of AMZ2 [probe 227567_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Rheumatoid arthritis:Triglycerides:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Microalbuminuria:Iris crypt frequency:Resistance to kuru in aged women despite likely exposure:Transmission distortion:Infant head circumference:Paternal transmission distortion:Obesity with early age of onset (age >2)
17 65989048 2 C17orf58 T C exonic nonsynonymous SNV C17orf58:NM_181656:exon2:c.A215G:p.E72G
17 66039350 2 KPNA2 A G exonic synonymous SNV KPNA2:NM_001320611:exon7:c.A801G:p.V267V,KPNA2:NM_002266:exon7:c.A801G:p.V267V RS4638 Triglycerides:LDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Microalbuminuria:Obesity with early age of onset (age >2):Infant head circumference
17 66533655 2 FAM20A A G exonic nonsynonymous SNV FAM20A:NM_017565:exon11:c.T1589C:p.L530S,FAM20A:NM_001243746:exon12:c.T1175C:p.L392S RS2907373 College completion:Gene expression of PRKAR1A (probeID ILMN_2277077) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2277077) in temporal cortex in Alzheimer's disease cases and controls:Years of education
17 67267317 2 ABCA5 T C exonic nonsynonymous SNV ABCA5:NM_018672:exon20:c.A2878G:p.M960V,ABCA5:NM_172232:exon21:c.A2878G:p.M960V RS557491 College completion
17 67273882 2 ABCA5 C A exonic nonsynonymous SNV ABCA5:NM_018672:exon18:c.G2494T:p.A832S,ABCA5:NM_172232:exon19:c.G2494T:p.A832S RS536009 Premature ovarian failure:2 hour glucose:Gene expression of ABCA5 in blood:Comorbid depressive syndrome and alcohol dependence:Hypertension (early onset hypertension)
17 70943990 2 SLC39A11 T C exonic nonsynonymous SNV SLC39A11:NM_001159770:exon5:c.A331G:p.T111A,SLC39A11:NM_139177:exon5:c.A331G:p.T111A RS2466517 Asthma
17 71192663 2 COG1 G A exonic synonymous SNV COG1:NM_018714:exon2:c.G333A:p.Q111Q RS1052706 Gene expression of FAM104A in normal prepouch ileum:Infant head circumference
17 71192873 2 COG1 A G exonic synonymous SNV COG1:NM_018714:exon2:c.A543G:p.A181A
17 71196809 2 COG1 A G exonic nonsynonymous SNV COG1:NM_018714:exon6:c.A1175G:p.N392S RS1026128 Schizophrenia:Barnes Akathisia Rating Scale:Gene expression of COG1 in peripheral blood monocytes:Gene expression of C17orf80 in CD4+ lymphocytes:Asthma:Gene expression of COG1///FAM104A in blood:Gene expression of FAM104A///COG1 in blood:Gene expression of C17orf80 (ENSG00000141219) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference:Hypertension (early onset hypertension)
17 71197748 2 COG1 G A exonic synonymous SNV COG1:NM_018714:exon7:c.G1782A:p.E594E RS1037256 Infant head circumference
17 71205854 2 FAM104A A G exonic nonsynonymous SNV FAM104A:NM_001289410:exon2:c.T275C:p.I92T,FAM104A:NM_001289411:exon3:c.T293C:p.I98T RS8387 Gene expression of CPSF4L (ENSG00000187959) in dendritic cells:Infant head circumference:Parkinson's disease
17 71232804 2 C17orf80 C A exonic nonsynonymous SNV C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_001288770:exon3:c.C1183A:p.H395N,C17orf80:NM_001288771:exon3:c.C1183A:p.H395N,C17orf80:NM_001351264:exon3:c.C1183A:p.H395N,C17orf80:NM_001351265:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N
17 71238433 2 C17orf80 G A exonic nonsynonymous SNV C17orf80:NM_001100622:exon4:c.G1564A:p.A522T,C17orf80:NM_001351264:exon4:c.G1564A:p.A522T,C17orf80:NM_017941:exon4:c.G1564A:p.A522T RS1566286 Schizophrenia:Gene expression of C17orf80 in CD4+ lymphocytes:Asthma:Gene expression of COG1///FAM104A in blood:Gene expression of FAM104A///COG1 in blood:Diastolic blood pressure (DBP):Gene expression of FAM104A in normal prepouch ileum
17 73230856 2 NUP85 C T exonic synonymous SNV NUP85:NM_001303276:exon16:c.C1602T:p.D534D,NUP85:NM_001330472:exon16:c.C1605T:p.D535D,NUP85:NM_024844:exon17:c.C1740T:p.D580D RS9988 HOMA-IR:Fasting insulin:Triglycerides:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Gene expression of NUP85 (probeID ILMN_1669635) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Infant head circumference:Gene expression of NUP85 (probeID ILMN_1669635) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NUP85 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of MRPS7 in normal prepouch ileum
17 73269676 2 SLC25A19 C T exonic synonymous SNV SLC25A19:NM_001126122:exon7:c.G819A:p.L273L,SLC25A19:NM_001126121:exon8:c.G819A:p.L273L,SLC25A19:NM_021734:exon8:c.G819A:p.L273L
17 73279624 2 SLC25A19 A G exonic synonymous SNV SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y
17 73625430 2 RECQL5 G A exonic synonymous SNV RECQL5:NM_004259:exon16:c.C2073T:p.H691H RS4788902 Advanced age-related macular degeneration (geographic atrophy):Infant head circumference:Advanced age-related macular degeneration
17 73625478 2 RECQL5 T C exonic synonymous SNV RECQL5:NM_004259:exon16:c.A2025G:p.T675T
17 73627565 2 RECQL5 A G exonic synonymous SNV RECQL5:NM_004259:exon9:c.T1413C:p.Y471Y
17 73819525 2 UNK C T exonic synonymous SNV UNK:NM_001080419:exon15:c.C2199T:p.S733S RS8078208 LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Paternal transmission distortion:Obsessive-compulsive disorder (OCD)
17 74381555 2 SPHK1 G A exonic nonsynonymous SNV SPHK1:NM_182965:exon2:c.G88A:p.A30T
17 74381567 2 SPHK1 G A exonic nonsynonymous SNV SPHK1:NM_182965:exon2:c.G100A:p.A34T
17 74387284 2 UBE2O C T exonic nonsynonymous SNV UBE2O:NM_022066:exon18:c.G3619A:p.G1207S RS3803739 Triglycerides:Gene expression of SPHK1 in blood:Gene expression of UBE2O in blood
17 74475024 2 RHBDF2 G A exonic nonsynonymous SNV RHBDF2:NM_001005498:exon5:c.C536T:p.P179L,RHBDF2:NM_024599:exon6:c.C623T:p.P208L
17 74475975 2 RHBDF2 C A exonic nonsynonymous SNV RHBDF2:NM_024599:exon4:c.G199T:p.A67S
17 74732507 2 SRSF2 A G exonic synonymous SNV SRSF2:NM_001195427:exon2:c.T402C:p.S134S,SRSF2:NM_003016:exon2:c.T402C:p.S134S
17 74733099 2 SRSF2 G A exonic synonymous SNV SRSF2:NM_001195427:exon1:c.C144T:p.D48D,SRSF2:NM_003016:exon1:c.C144T:p.D48D RS237057 Gene expression of MXRA7 in normal prepouch ileum
17 75190846 2 SEC14L1 A C exonic nonsynonymous SNV SEC14L1:NM_001144001:exon5:c.A460C:p.T154P,SEC14L1:NM_001039573:exon7:c.A562C:p.T188P,SEC14L1:NM_001143998:exon7:c.A562C:p.T188P,SEC14L1:NM_001143999:exon7:c.A562C:p.T188P,SEC14L1:NM_003003:exon7:c.A562C:p.T188P,SEC14L1:NM_001204410:exon8:c.A562C:p.T188P,SEC14L1:NM_001204408:exon9:c.A562C:p.T188P
17 75494705 2 9-Sep A G exonic nonsynonymous SNV SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001293696:exon10:c.A1054G:p.M352V,SEPT9:NM_001293697:exon10:c.A973G:p.M325V,SEPT9:NM_001293698:exon10:c.A973G:p.M325V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_001293695:exon11:c.A1669G:p.M557V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V RS2627223 Height
17 76183043 2 TK1 A G exonic synonymous SNV TK1:NM_001346663:exon1:c.T33C:p.P11P,TK1:NM_003258:exon1:c.T33C:p.P11P RS1071664 Gene expression of SYNGR2 in CD4+ lymphocytes
17 77078109 2 ENGASE A G exonic synonymous SNV ENGASE:NM_001042573:exon7:c.A1002G:p.R334R RS1317421 Chronic kidney disease:Birth weight
17 78298938 2 RNF213 A G exonic nonsynonymous SNV RNF213:NM_001256071:exon18:c.A3133G:p.N1045D
17 79171967 2 CEP131 A G exonic nonsynonymous SNV CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A
17 79174221 2 CEP131 T C exonic nonsynonymous SNV CEP131:NM_001009811:exon8:c.A814G:p.T272A,CEP131:NM_001319228:exon8:c.A814G:p.T272A,CEP131:NM_001319229:exon8:c.A814G:p.T272A,CEP131:NM_014984:exon8:c.A814G:p.T272A RS2466773 HDL cholesterol:LDL cholesterol:2 hour glucose:LDL cholesterol:Infant head circumference
17 79409309 2 BAHCC1 A G exonic unknown UNKNOWN
17 79478019 2 ACTG1 G A exonic synonymous SNV ACTG1:NM_001199954:exon5:c.C918T:p.Y306Y,ACTG1:NM_001614:exon5:c.C918T:p.Y306Y RS1139405 Irritible bowel syndrome:Allele-specific methylation and blood gene expression of 211983_x_at:Allele-specific methylation and blood gene expression of 213214_x_at:Allele-specific methylation and blood gene expression of 212988_x_at:Allele-specific methylation and blood gene expression of 201550_x_at:Allele-specific methylation and blood gene expression of 221607_x_at:Allele-specific methylation and blood gene expression of 211970_x_at:Allele-specific methylation and blood gene expression of 224585_x_at:Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of ACTG1 [probe 212363_x_at] in prefrontal cortex:Systolic blood pressure (SBP):Immunoglobulin G antibody to protective antigen response to Anthrax Vaccine Adsorbed
17 79508400 2 FAAP100 T C exonic nonsynonymous SNV FAAP100:NM_025161:exon8:c.A2449G:p.T817A RS14422 Salmonella-induced pyroptosis
17 79637349 2 CCDC137 T C exonic synonymous SNV CCDC137:NM_199287:exon3:c.T363C:p.S121S
17 79872241 2 SIRT7 A G exonic synonymous SNV SIRT7:NM_016538:exon7:c.T745C:p.L249L
17 79891147 2 PYCR1 T C exonic synonymous SNV PYCR1:NM_001282279:exon7:c.A810G:p.S270S,PYCR1:NM_006907:exon7:c.A903G:p.S301S,PYCR1:NM_001282280:exon8:c.A903G:p.S301S,PYCR1:NM_001282281:exon8:c.A984G:p.S328S
17 80136418 2 CCDC57 C T exonic nonsynonymous SNV CCDC57:NM_198082:exon10:c.G1438A:p.V480M,CCDC57:NM_001316321:exon11:c.G1438A:p.V480M RS7209474 Total cholesterol:Serum creatinine:Cystatin C in serum:Chronic kidney disease:Methylation levels at chr17:77702815-77702865 [hg18 coord, probe cg21565972] in Frontal cortex:Methylation levels at chr17:77702815-77702865 [hg18 coord, probe cg21565972] in Temporal cortex:Total cholesterol:Height:Body mass index (BMI):Gene expression of CCDC57 (probeID ILMN_2140342) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CCDC57 (probeID ILMN_2140342) in temporal cortex in Alzheimer's disease cases and controls
17 80151881 2 CCDC57 G A exonic synonymous SNV CCDC57:NM_198082:exon5:c.C753T:p.D251D,CCDC57:NM_001316321:exon6:c.C753T:p.D251D
17 80159566 2 CCDC57 T C exonic synonymous SNV CCDC57:NM_198082:exon2:c.A255G:p.E85E,CCDC57:NM_001316321:exon3:c.A255G:p.E85E
17 80195582 2 SLC16A3 T C exonic synonymous SNV SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G
17 80280865 2 SECTM1 G A exonic synonymous SNV SECTM1:NM_003004:exon4:c.C426T:p.P142P
17 80391684 2 HEXDC A G exonic nonsynonymous SNV HEXDC:NM_001330542:exon5:c.A433G:p.I145V,HEXDC:NM_173620:exon5:c.A433G:p.I145V RS4789773 Gene expression of NARF in YRI lymphoblastoid cell lines:Gene expression of NARF [probe 219862_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Total cholesterol:Gene expression of HEXDC in blood:Age at death with kuru exposure:Obesity with early age of onset (age >2):Advanced age-related macular degeneration:Gene expression of NARF in normal prepouch ileum
17 80674643 2 FN3KRP C G exonic synonymous SNV FN3KRP:NM_024619:exon1:c.C12G:p.L4L
17 80696410 2 FN3K A C exonic synonymous SNV FN3K:NM_022158:exon2:c.A187C:p.R63R
17 80895933 2 TBCD A G exonic nonsynonymous SNV TBCD:NM_005993:exon36:c.A3290G:p.E1097G RS3785522 Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 153221657 2
18 252559 2 THOC1 G A exonic synonymous SNV THOC1:NM_005131:exon9:c.C657T:p.D219D
18 724612 2 YES1 A G exonic synonymous SNV YES1:NM_005433:exon12:c.T1444C:p.L482L
18 2539016 2 METTL4 C G exonic nonsynonymous SNV METTL4:NM_022840:exon9:c.G1402C:p.V468L
18 3067278 1 MYOM1 A G exonic synonymous SNV MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G RS2230164 Alzheimer's disease:Gene expression of LPIN2 in blood:Gene expression of MYOM1 in blood
18 5292030 2 ZBTB14 A G exonic synonymous SNV ZBTB14:NM_003409:exon3:c.T177C:p.T59T,ZBTB14:NM_001143823:exon4:c.T177C:p.T59T,ZBTB14:NM_001243702:exon4:c.T177C:p.T59T,ZBTB14:NM_001243704:exon4:c.T177C:p.T59T RS620652 Irritible bowel syndrome:HDL cholesterol:Schizophrenia:Partial epilepsy:HDL cholesterol:PROP taste detection threshold:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot
18 8387195 2 PTPRM G A exonic synonymous SNV PTPRM:NM_002845:exon29:c.G4131A:p.E1377E,PTPRM:NM_001105244:exon31:c.G4170A:p.E1390E RS593978 Triglycerides:Fasting blood glucose:Rheumatoid arthritis
18 8387219 2 PTPRM G C exonic synonymous SNV PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T RS593950 Triglycerides:Fasting blood glucose:Rheumatoid arthritis
18 8783835 2 MTCL1 T C exonic nonsynonymous SNV MTCL1:NM_015210:exon6:c.T725C:p.M242T
18 8784370 2 MTCL1 A G exonic synonymous SNV MTCL1:NM_015210:exon6:c.A1260G:p.E420E
18 10748603 2 PIEZO2 A T exonic synonymous SNV PIEZO2:NM_022068:exon28:c.T4215A:p.L1405L RS8096037 HDL cholesterol:College completion
18 10752666 2 PIEZO2 C T exonic nonsynonymous SNV PIEZO2:NM_022068:exon26:c.G4060A:p.V1354I RS7234309 Aortic valve calcium
18 10758023 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N RS7407105 Salmonella-induced pyroptosis
18 10762962 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon20:c.C3006T:p.L1002L RS7241380 Hypertension, gender differentiated:Irritible bowel syndrome:Salmonella-induced pyroptosis
18 10763007 2 PIEZO2 T C exonic synonymous SNV PIEZO2:NM_022068:exon20:c.A2961G:p.T987T RS7227167 Irritible bowel syndrome:Salmonella-induced pyroptosis
18 12984144 2 SEH1L C A exonic nonsynonymous SNV SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N RS6505776 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of SEH1L in blood:Gene expression of CEP192 [probeset 218827_s_at] in sputum:Hypertension (early onset hypertension):Refractive error:Gene expression of CEP192 in normal prepouch ileum:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:College completion
18 13001512 1 CEP192 G C exonic nonsynonymous SNV CEP192:NM_032142:exon3:c.G221C:p.G74A RS4499304 Fasting blood glucose:Serum creatinine:Gene expression of CEP192 in Caudal pons:Height:Refractive error:College completion:Years of education
18 13068132 2 CEP192 T C exonic nonsynonymous SNV CEP192:NM_032142:exon23:c.T4654C:p.S1552P RS578208 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CEP192 in normal prepouch ileum:Years of education:Refractive error:College completion:Infant head circumference:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls
18 13069782 2 CEP192 C T exonic nonsynonymous SNV CEP192:NM_032142:exon27:c.C5101T:p.L1701F RS6505780 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Alzheimer's disease:Gene expression of CEP192 in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Years of education:College completion:Hypertension (early onset hypertension):Gene expression of CEP192 in normal prepouch ileum:Infant head circumference
18 13095609 2 CEP192 T C exonic nonsynonymous SNV CEP192:NM_032142:exon35:c.T6362C:p.L2121P RS474337 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:College completion:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of CEP192 in normal prepouch ileum:Years of education:Primary rhegmatogenous retinal detachment:Hypertension (early onset hypertension)
18 13116432 2 CEP192 G T exonic nonsynonymous SNV CEP192:NM_032142:exon43:c.G7346T:p.R2449L RS1786263 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probeset 3779866] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probeset 3779862] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Years of education:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Refractive error:College completion:Primary rhegmatogenous retinal detachment:Infant head circumference:Gene expression of CEP192 in normal prepouch ileum:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Aortic valve calcium
18 14105016 2 ZNF519 C A exonic nonsynonymous SNV ZNF519:NM_145287:exon3:c.G1523T:p.R508I
18 14105923 2 ZNF519 T C exonic nonsynonymous SNV ZNF519:NM_145287:exon3:c.A616G:p.K206E
18 19153494 2 ESCO1 C T exonic synonymous SNV ESCO1:NM_052911:exon4:c.G1311A:p.T437T RS973730 Fasting blood glucose:Advanced age-related macular degeneration (geographic atrophy):Maternal transmission distortion:Transmission distortion:Infant head circumference
18 21100240 2 C18orf8 C T exonic synonymous SNV C18orf8:NM_001318707:exon7:c.C453T:p.P151P,C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_001318709:exon8:c.C780T:p.P260P,C18orf8:NM_001318708:exon9:c.C453T:p.P151P,C18orf8:NM_013326:exon10:c.C924T:p.P308P RS1367083 Fasting blood glucose:LDL cholesterol:Height:Body mass index (BMI):Mitral annular calcium:Years of education:College completion
18 21120444 2 NPC1 T C exonic nonsynonymous SNV NPC1:NM_000271:exon17:c.A2572G:p.I858V RS1805082 Fasting blood glucose:Childhood acute lymphoblastic leukemia:Gene expression of NPC1 in peripheral blood monocytes:HDL cholesterol:LDL cholesterol:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Years of education:College completion:Mitral annular calcium
18 21124945 2 NPC1 C G exonic nonsynonymous SNV NPC1:NM_000271:exon12:c.G1926C:p.M642I RS1788799 HOMA-IR:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):College completion:Years of education
18 21710321 2 TTC39C C T exonic synonymous SNV TTC39C:NM_001292030:exon7:c.C642T:p.N214N,TTC39C:NM_001135993:exon12:c.C1563T:p.N521N,TTC39C:NM_153211:exon12:c.C1380T:p.N460N
18 22020543 2 IMPACT C G exonic nonsynonymous SNV IMPACT:NM_018439:exon6:c.C451G:p.L151V RS677688 Cystatin C in serum:Salmonella-induced pyroptosis
18 25565082 2 CDH2 A G exonic synonymous SNV CDH2:NM_001308176:exon12:c.T1998C:p.R666R,CDH2:NM_001792:exon13:c.T2091C:p.R697R RS1220144 Salmonella-induced pyroptosis
18 25570228 2 CDH2 G C exonic synonymous SNV CDH2:NM_001308176:exon9:c.C1338G:p.P446P,CDH2:NM_001792:exon10:c.C1431G:p.P477P
18 29497573 2 TRAPPC8 A G exonic nonsynonymous SNV TRAPPC8:NM_014939:exon3:c.T410C:p.L137S
18 33647254 2 RPRD1A A C exonic synonymous SNV RPRD1A:NM_001303413:exon1:c.T114G:p.R38R,RPRD1A:NM_018170:exon1:c.T114G:p.R38R
18 33706614 2 SLC39A6 C G exonic nonsynonymous SNV SLC39A6:NM_012319:exon2:c.G357C:p.E119D
18 33779821 2 MOCOS C A exonic synonymous SNV MOCOS:NM_017947:exon4:c.C475A:p.R159R
18 33779896 2 MOCOS A G exonic nonsynonymous SNV MOCOS:NM_017947:exon4:c.A550G:p.S184G
18 33780020 2 MOCOS A G exonic nonsynonymous SNV MOCOS:NM_017947:exon4:c.A674G:p.H225R
18 33785185 2 MOCOS A G exonic synonymous SNV MOCOS:NM_017947:exon6:c.A1164G:p.P388P
18 42533130 2 SETBP1 A G exonic synonymous SNV SETBP1:NM_015559:exon4:c.A3825G:p.S1275S RS8096662 Barnes Akathisia Rating Scale:LDL cholesterol:Body mass index (BMI):Parkinson's disease
18 47563299 2 MYO5B T C exonic nonsynonymous SNV MYO5B:NM_001080467:exon4:c.A376G:p.T126A
18 47810351 2 CXXC1 A G exonic synonymous SNV CXXC1:NM_001101654:exon10:c.T1338C:p.T446T,CXXC1:NM_014593:exon10:c.T1326C:p.T442T RS7228084 Microalbuminuria:Urinary albumin-to-creatinine ratio
18 47908556 2 SKA1 G A exonic nonsynonymous SNV SKA1:NM_001039535:exon4:c.G271A:p.V91I,SKA1:NM_145060:exon4:c.G271A:p.V91I RS6507992 Fasting insulin:HOMA-IR:Methylation levels at chr18:46155136-46155186 [hg18 coord, probe cg06883149] in Temporal cortex:HDL cholesterol
18 48723217 2 MEX3C C T exonic synonymous SNV MEX3C:NM_016626:exon1:c.G474A:p.P158P
18 54339818 2 WDR7 C G exonic synonymous SNV WDR7:NM_015285:exon2:c.C72G:p.A24A,WDR7:NM_052834:exon2:c.C72G:p.A24A
18 55221648 2 FECH T C exonic synonymous SNV FECH:NM_000140:exon9:c.A921G:p.P307P,FECH:NM_001012515:exon9:c.A939G:p.P313P RS536560 LDL cholesterol
18 55317676 2 ATP8B1 C T exonic nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T
18 55362532 2 ATP8B1 T G exonic synonymous SNV ATP8B1:NM_005603:exon10:c.A811C:p.R271R
18 56149099 2 ALPK2 T C exonic nonsynonymous SNV ALPK2:NM_052947:exon13:c.A6469G:p.I2157V RS7240666 Alcohol dependence:Cystatin C in serum:HDL cholesterol:Coronary artery disease (CAD)
18 59814268 2 PIGN G A exonic synonymous SNV PIGN:NM_012327:exon8:c.C741T:p.H247H,PIGN:NM_176787:exon9:c.C741T:p.H247H
18 60036083 2 TNFRSF11A A G exonic synonymous SNV TNFRSF11A:NM_001278268:exon9:c.A891G:p.T297T,TNFRSF11A:NM_003839:exon9:c.A933G:p.T311T RS8092336 HDL cholesterol:Triglycerides change with statins:HDL cholesterol change with statins:Coronary artery disease (CAD)
18 60237388 2 ZCCHC2 A G exonic synonymous SNV ZCCHC2:NM_017742:exon12:c.A1899G:p.S633S RS8096750 LDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Late onset Alzheimer's disease
18 66504093 2 CCDC102B A C exonic synonymous SNV CCDC102B:NM_024781:exon2:c.A93C:p.A31A,CCDC102B:NM_001093729:exon4:c.A93C:p.A31A
18 66504459 2 CCDC102B A T exonic nonsynonymous SNV CCDC102B:NM_024781:exon2:c.A459T:p.K153N,CCDC102B:NM_001093729:exon4:c.A459T:p.K153N
18 67718688 2 RTTN A G exonic nonsynonymous SNV RTTN:NM_001318520:exon38:c.T2546C:p.F849S,RTTN:NM_173630:exon39:c.T5282C:p.F1761S RS4891392 Comorbid depressive syndrome and alcohol dependence
18 67871343 2 RTTN A C exonic nonsynonymous SNV RTTN:NM_173630:exon3:c.T376G:p.S126A RS3911730 Comorbid depressive syndrome and alcohol dependence:Birth weight
18 72343008 2 ZNF407 T C exonic synonymous SNV ZNF407:NM_001146189:exon1:c.T33C:p.D11D,ZNF407:NM_001146190:exon1:c.T33C:p.D11D,ZNF407:NM_017757:exon1:c.T33C:p.D11D
18 72776121 2 ZNF407 G A exonic synonymous SNV ZNF407:NM_017757:exon8:c.G6444A:p.T2148T RS3744913 Tardive dyskinesia
18 74611127 2 ZNF236 A G exonic nonsynonymous SNV ZNF236:NM_001306089:exon11:c.A1843G:p.I615V,ZNF236:NM_007345:exon11:c.A1837G:p.I613V RS608433 Comorbid depressive syndrome and alcohol dependence:Adiponectin levels
18 74680259 2 ZNF236 C T exonic synonymous SNV ZNF236:NM_001306089:exon31:c.C5508T:p.A1836A,ZNF236:NM_007345:exon31:c.C5502T:p.A1834A RS657066 Waist hip ratio
18 77513721 2 CTDP1 T C exonic synonymous SNV CTDP1:NM_001202504:exon13:c.T2460C:p.D820D,CTDP1:NM_004715:exon13:c.T2817C:p.D939D
19 434718 2 SHC2 G A exonic synonymous SNV SHC2:NM_012435:exon8:c.C1101T:p.A367A
19 605171 2 HCN2 T C exonic synonymous SNV HCN2:NM_001194:exon3:c.T1167C:p.P389P
19 613898 2 HCN2 T C exonic synonymous SNV HCN2:NM_001194:exon7:c.T1872C:p.A624A
19 619021 2 POLRMT G C exonic synonymous SNV POLRMT:NM_005035:exon15:c.C3243G:p.P1081P
19 621712 2 POLRMT A G exonic synonymous SNV POLRMT:NM_005035:exon10:c.T1986C:p.A662A
19 622336 2 POLRMT T G exonic nonsynonymous SNV POLRMT:NM_005035:exon9:c.A1664C:p.E555A
19 625198 2 POLRMT A G exonic synonymous SNV POLRMT:NM_005035:exon4:c.T879C:p.T293T
19 731144 2 PALM A G exonic nonsynonymous SNV PALM:NM_001040134:exon5:c.A319G:p.T107A,PALM:NM_002579:exon5:c.A319G:p.T107A RS1050457 Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Age at menarche
19 929753 2 ARID3A A G exonic synonymous SNV ARID3A:NM_005224:exon2:c.A225G:p.P75P
19 965043 2 ARID3A T C exonic synonymous SNV ARID3A:NM_005224:exon6:c.T1161C:p.N387N
19 984533 2 WDR18 T C exonic synonymous SNV WDR18:NM_024100:exon1:c.T180C:p.N60N RS2301810 Gene expression of WDR18 [probe 209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Triglycerides:LDL cholesterol:Mitral annular calcium
19 984554 2 WDR18 C G exonic synonymous SNV WDR18:NM_024100:exon1:c.C201G:p.L67L RS4806884 Gene expression of WDR18 [probe 209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Triglycerides:Mitral annular calcium
19 990281 2 WDR18 G A exonic nonsynonymous SNV WDR18:NM_024100:exon4:c.G514A:p.A172T RS2158367 LDL cholesterol:Total cholesterol:Cystatin C in serum:Triglycerides:Age at menarche
19 1036552 2 CNN2 T C exonic synonymous SNV CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_001303499:exon6:c.T612C:p.C204C,CNN2:NM_001303501:exon6:c.T708C:p.C236C,CNN2:NM_004368:exon6:c.T645C:p.C215C RS2304262 Aortic valve calcium
19 1094004 2 POLR2E G A exonic nonsynonymous SNV POLR2E:NM_002695:exon2:c.C131T:p.S44F
19 1106615 2 GPX4 T C exonic unknown UNKNOWN RS713041 HDL cholesterol:HDL cholesterol:Height:College completion:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of SBNO2 (ENSG00000064932) in dendritic cells
19 1110829 2 SBNO2 G A exonic synonymous SNV SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N RS2302109 Irritible bowel syndrome:Schizophrenia:HDL cholesterol:Gene expression of GPX4 in blood:Advanced age-related macular degeneration (geographic atrophy):Primary rhegmatogenous retinal detachment:Parkinson's disease
19 1127615 2 SBNO2 G C exonic synonymous SNV SBNO2:NM_001100122:exon2:c.C258G:p.S86S,SBNO2:NM_014963:exon5:c.C429G:p.S143S RS2074915 Total cholesterol:LDL cholesterol:Gene expression change of ABCA7 (ENSG00000064687) in dendritic cells after treatment with Mycobacterium tuberculosis:Mitral annular calcium
19 1127720 2 SBNO2 G A exonic synonymous SNV SBNO2:NM_001100122:exon2:c.C153T:p.S51S,SBNO2:NM_014963:exon5:c.C324T:p.S108S RS2074916 Crohn's disease, combined control dataset:Irritible bowel syndrome:Gene expression of POLR2E [probe 217854_s_at] in prefrontal cortex:Total cholesterol:LDL cholesterol:Mitral annular calcium
19 1272040 2 CIRBP T C exonic synonymous SNV CIRBP:NM_001280:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300815:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300829:exon6:c.T492C:p.Y164Y RS12488 Chronic kidney disease
19 1277275 2 C19orf24 G C exonic synonymous SNV C19orf24:NM_017914:exon2:c.G375C:p.V125V RS757292 Urinary albumin-to-creatinine ratio
19 1357082 2 MUM1 T C exonic synonymous SNV MUM1:NM_032853:exon3:c.T135C:p.S45S RS713042 Gene expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell lines:Gene expression of probe 230461_s_at in lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal prepouch ileum:Hypertension (early onset hypertension)
19 1388538 2 NDUFS7 C T exonic nonsynonymous SNV NDUFS7:NM_024407:exon3:c.C68T:p.P23L
19 1510661 2 ADAMTSL5 A G exonic synonymous SNV ADAMTSL5:NM_213604:exon3:c.T168C:p.S56S
19 1555964 2 MEX3D G T exonic synonymous SNV MEX3D:NM_001174118:exon2:c.C1554A:p.P518P,MEX3D:NM_203304:exon2:c.C1554A:p.P518P
19 1615796 2 TCF3 G A exonic nonsynonymous SNV TCF3:NM_001136139:exon16:c.C1475T:p.A492V,TCF3:NM_003200:exon17:c.C1475T:p.A492V
19 1821637 2 REXO1 A G exonic nonsynonymous SNV REXO1:NM_020695:exon5:c.T2275C:p.S759P
19 1880950 2 ABHD17A T C exonic nonsynonymous SNV ABHD17A:NM_031213:exon3:c.A430G:p.K144E
19 1912934 2 ADAT3 T C exonic synonymous SNV ADAT3:NM_001329533:exon2:c.T840C:p.T280T,ADAT3:NM_138422:exon2:c.T888C:p.T296T
19 1986520 2 BTBD2 G A exonic synonymous SNV BTBD2:NM_017797:exon9:c.C1545T:p.D515D
19 1997363 2 BTBD2 A G exonic synonymous SNV BTBD2:NM_017797:exon2:c.T507C:p.A169A
19 2339958 2 SPPL2B T C exonic unknown UNKNOWN
19 2833802 2 ZNF554 A G exonic nonsynonymous SNV ZNF554:NM_001102651:exon5:c.A569G:p.E190G RS867168 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of ZNF554 [probe 3816656] in brain cortex:HDL cholesterol change with statins:Height:Gene expression of SGTA [probe ILMN_1162] in osteoblasts treated with BMP2:Gene expression of SGTA [probe ILMN_1162] in osteoblasts treated with bmp
19 2833864 2 ZNF554 G A exonic nonsynonymous SNV ZNF554:NM_001102651:exon5:c.G631A:p.V211I RS867169 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Differential exon level expression of ZNF554 [probe 3816656] in brain cortex:Height:Gene expression of SGTA [probe ILMN_1162] in osteoblasts treated with bmp
19 2853566 2 ZNF555 A G exonic synonymous SNV ZNF555:NM_001172775:exon4:c.A1500G:p.R500R,ZNF555:NM_152791:exon4:c.A1503G:p.R501R RS10412087 Methylation levels at chr19:2818753-2818803 [hg18 coord, probe cg19636861] in Caudal pons:Methylation levels at chr19:2818753-2818803 [hg18 coord, probe cg19636861] in Temporal cortex:Gene expression change of SGTA (ENSG00000104969) in dendritic cells after treatment with Mycobacterium tuberculosis
19 2917186 2 ZNF57 T C exonic synonymous SNV ZNF57:NM_001319083:exon4:c.T471C:p.T157T,ZNF57:NM_173480:exon4:c.T567C:p.T189T
19 2917287 2 ZNF57 C A exonic nonsynonymous SNV ZNF57:NM_001319083:exon4:c.C572A:p.T191N,ZNF57:NM_173480:exon4:c.C668A:p.T223N RS2288958 Irritible bowel syndrome:Fasting blood glucose:HOMA-IR:Fasting insulin:Partial epilepsy:Age at death with kuru exposure:Transmission distortion:Adiponectin levels:College completion:Paternal transmission distortion
19 2917612 2 ZNF57 T C exonic synonymous SNV ZNF57:NM_001319083:exon4:c.T897C:p.T299T,ZNF57:NM_173480:exon4:c.T993C:p.T331T RS10410539 Advanced age-related macular degeneration
19 3653525 2 PIP5K1C C T exonic synonymous SNV PIP5K1C:NM_001195733:exon7:c.G684A:p.S228S,PIP5K1C:NM_001300849:exon7:c.G684A:p.S228S,PIP5K1C:NM_012398:exon7:c.G684A:p.S228S RS2074957 Height:Diastolic blood pressure (DBP):Refractive error
19 3977486 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon13:c.T2190C:p.Y730Y RS36527 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 3979408 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon11:c.T1632C:p.H544H RS36526 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 4028783 2 PIAS4 C T exonic synonymous SNV PIAS4:NM_015897:exon6:c.C738T:p.T246T RS2289863 Cystatin C in serum:Rheumatoid arthritis:Partial epilepsy:HDL cholesterol:Body mass index (BMI):Gene expression of PIAS4 in blood:Years of education
19 4033462 2 PIAS4 T C exonic synonymous SNV PIAS4:NM_015897:exon9:c.T1026C:p.C342C
19 4325433 2 STAP2 G A exonic synonymous SNV STAP2:NM_001013841:exon10:c.C939T:p.P313P,STAP2:NM_017720:exon10:c.C939T:p.P313P RS1138253 LDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of STAP2 (probeID ILMN_1704500) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STAP2 (probeID ILMN_1704500) in temporal cortex in Alzheimer's disease cases and controls
19 4333711 2 STAP2 C T exonic nonsynonymous SNV STAP2:NM_001013841:exon3:c.G277A:p.D93N,STAP2:NM_017720:exon3:c.G277A:p.D93N RS7247504 Hip bone mineral density (BMD):Spine bone mineral density (BMD):HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Resistance to kuru in aged women despite likely exposure:Gene expression of STAP2 (probeID ILMN_1657631) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STAP2 (probeID ILMN_1704500) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of STAP2 (probeID ILMN_1657631) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of STAP2 (probeID ILMN_1704500) in cerebellum in Alzheimer's disease cases and controls
19 4357555 2 MPND A G exonic synonymous SNV MPND:NM_001159846:exon8:c.A1059G:p.S353S,MPND:NM_001300862:exon10:c.A1209G:p.S403S,MPND:NM_032868:exon10:c.A1209G:p.S403S RS4807583 Parkinson's disease
19 4442999 2 CHAF1A T G exonic nonsynonymous SNV CHAF1A:NM_005483:exon15:c.T2848G:p.S950A
19 4454000 2 UBXN6 G A exonic synonymous SNV UBXN6:NM_001171091:exon2:c.C15T:p.A5A,UBXN6:NM_025241:exon2:c.C174T:p.A58A
19 4493708 2 HDGFL2 A G exonic synonymous SNV HDGFL2:NM_001001520:exon7:c.A687G:p.P229P,HDGFL2:NM_001348169:exon7:c.A759G:p.P253P,HDGFL2:NM_032631:exon7:c.A687G:p.P229P RS892161 LDL cholesterol:Fasting blood glucose:LDL cholesterol:Total cholesterol:Waist hip ratio:Hypertension (early onset hypertension):Gene expression of UBXN6 (ENSG00000167671) in dendritic cells:Gene expression of SEMA6B (ENSG00000167680) in dendritic cells:Gene expression of UBXN6 (ENSG00000167671) in dendritic cells treated with Mycobacterium tuberculosis
19 4513559 2 PLIN4 A G exonic nonsynonymous SNV PLIN4:NM_001080400:exon3:c.T371C:p.V124A
19 4847713 2 PLIN3 A G exonic nonsynonymous SNV PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A,PLIN3:NM_005817:exon6:c.T824C:p.V275A RS9973235 Birth weight:Gene expression of FEM1A (ENSG00000141965) in dendritic cells treated with Mycobacterium tuberculosis:Transmission distortion
19 4847874 2 PLIN3 A G exonic synonymous SNV PLIN3:NM_001164189:exon6:c.T663C:p.F221F,PLIN3:NM_001164194:exon6:c.T627C:p.F209F,PLIN3:NM_005817:exon6:c.T663C:p.F221F RS9304915 Gene expression change of UHRF1 (ENSG00000034063) in dendritic cells after treatment with Mycobacterium tuberculosis
19 4852106 2 PLIN3 A G exonic synonymous SNV PLIN3:NM_001164189:exon5:c.T556C:p.L186L,PLIN3:NM_001164194:exon5:c.T520C:p.L174L,PLIN3:NM_005817:exon5:c.T556C:p.L186L RS2271058 PROP taste detection threshold:Paternal transmission distortion:Transmission distortion:Birth weight
19 4859937 2 PLIN3 T C exonic nonsynonymous SNV PLIN3:NM_001164189:exon3:c.A166G:p.I56V,PLIN3:NM_001164194:exon3:c.A166G:p.I56V,PLIN3:NM_005817:exon3:c.A166G:p.I56V RS8289 Fasting insulin:HOMA-IR:Gene expression of M6PRBP1 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Transmission distortion:Salmonella-induced pyroptosis
19 4945914 2 UHRF1 A C exonic unknown UNKNOWN
19 4945917 2 UHRF1 C T exonic unknown UNKNOWN
19 5041178 2 KDM4B T C exonic synonymous SNV KDM4B:NM_015015:exon5:c.T348C:p.D116D RS2240678 Citrate:Tyrosine
19 5135392 2 KDM4B A G exonic nonsynonymous SNV KDM4B:NM_015015:exon15:c.A2128G:p.K710E
19 6495736 2 TUBB4A A G exonic synonymous SNV TUBB4A:NM_001289130:exon4:c.T558C:p.V186V,TUBB4A:NM_001289131:exon4:c.T558C:p.V186V,TUBB4A:NM_006087:exon4:c.T774C:p.V258V,TUBB4A:NM_001289123:exon5:c.T927C:p.V309V,TUBB4A:NM_001289127:exon5:c.T909C:p.V303V,TUBB4A:NM_001289129:exon5:c.T774C:p.V258V RS2071347 Cystatin C in serum:Transmission distortion:Salmonella-induced pyroptosis:Parkinson's disease
19 6713291 2 C3 C T exonic synonymous SNV C3:NM_000064:exon9:c.G912A:p.R304R
19 6731057 2 GPR108 T C exonic synonymous SNV GPR108:NM_001080452:exon17:c.A1500G:p.G500G
19 6737481 2 GPR108 T C exonic nonsynonymous SNV GPR108:NM_001080452:exon1:c.A107G:p.Q36R RS340138 HOMA-IR:Fasting insulin:HOMA-B
19 6737509 2 GPR108 G A exonic synonymous SNV GPR108:NM_001080452:exon1:c.C79T:p.L27L
19 7083629 2 ZNF557 A G exonic synonymous SNV ZNF557:NM_001044387:exon8:c.A1167G:p.S389S,ZNF557:NM_001044388:exon8:c.A1146G:p.S382S,ZNF557:NM_024341:exon8:c.A1167G:p.S389S RS966591 Crohn's disease:Irritible bowel syndrome:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Gene expression of TIFAB in peripheral blood monocytes
19 7528734 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R RS2287918 HOMA-IR:Cystatin C in serum:HDL cholesterol:Diastolic blood pressure (DBP)
19 7533850 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S
19 7711221 2 STXBP2 T C exonic synonymous SNV STXBP2:NM_001127396:exon16:c.T1434C:p.D478D,STXBP2:NM_001272034:exon16:c.T1476C:p.D492D,STXBP2:NM_006949:exon16:c.T1443C:p.D481D
19 7712277 2 STXBP2 A G exonic nonsynonymous SNV STXBP2:NM_001127396:exon18:c.A1567G:p.I523V,STXBP2:NM_001272034:exon18:c.A1609G:p.I537V,STXBP2:NM_006949:exon18:c.A1576G:p.I526V RS6791 Refractive error:Adiponectin levels
19 7928462 2 EVI5L T C exonic synonymous SNV EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y
19 7963914 2 LRRC8E A C exonic synonymous SNV LRRC8E:NM_001268285:exon2:c.A120C:p.V40V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268284:exon4:c.A507C:p.V169V
19 8321946 2 CERS4 T C exonic synonymous SNV CERS4:NM_024552:exon9:c.T726C:p.S242S RS36247 HDL cholesterol:Obesity with early age of onset (age >2)
19 8326904 2 CERS4 G A exonic nonsynonymous SNV CERS4:NM_024552:exon12:c.G1096A:p.A366T RS36259 Sporadic Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment
19 8551094 2 HNRNPM T C exonic synonymous SNV HNRNPM:NM_001297418:exon12:c.T1377C:p.P459P,HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P
19 8553630 2 HNRNPM C T exonic synonymous SNV HNRNPM:NM_001297418:exon14:c.C1680T:p.G560G,HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G RS6992 LDL cholesterol:LDL cholesterol
19 8645786 2 ADAMTS10 A C exonic nonsynonymous SNV ADAMTS10:NM_001282352:exon13:c.T1764G:p.H588Q,ADAMTS10:NM_030957:exon26:c.T3303G:p.H1101Q
19 10224526 2 P2RY11;PPAN-P2RY11 C T exonic nonsynonymous SNV PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L
19 10226256 2 EIF3G A G exonic synonymous SNV EIF3G:NM_003755:exon10:c.T846C:p.F282F RS7710 Refractive error
19 10265312 2 DNMT1 T C exonic synonymous SNV DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T RS721186 Total cholesterol
19 10395683 2 ICAM1 A G exonic nonsynonymous SNV ICAM1:NM_000201:exon6:c.A1405G:p.K469E RS5498 Plasma soluble intercellular adhesion molecule 1 (ICAM-1) (females):Alzheimer's disease:Soluble intercellular adhesion molecule 1 (ICAM-1):Rheumatoid arthritis:Urinary albumin-to-creatinine ratio:Soluble intercellular adhesion molecule 1 (ICAM-1):ICAM1 gene expression in omental adipose tissue:ICAM5 gene expression in omental adipose tissue:ICAM1 gene expression in subcutaneous adipose tissue:ICAM4 gene expression in omental adipose tissue:Cerebral white matter hyperintensities burden:Gene expression of ICAM4 in blood:Gene expression of AC020931.6 in blood:College completion
19 10402938 2 ICAM5 G A exonic nonsynonymous SNV ICAM5:NM_003259:exon4:c.G901A:p.V301I RS1056538 Breast cancer
19 10403368 2 ICAM5 G A exonic nonsynonymous SNV ICAM5:NM_003259:exon5:c.G1042A:p.A348T RS2228615 Abnormal Involuntary Movement Scale:Alzheimer's disease:Rheumatoid arthritis:Urinary albumin-to-creatinine ratio:Soluble intercellular adhesion molecule 1 (ICAM-1):Gene expression of ICAM4 in blood:College completion:Advanced age-related macular degeneration (geographic atrophy)
19 10426628 2 FDX1L T C exonic synonymous SNV FDX1L:NM_001031734:exon1:c.A54G:p.L18L RS395782 2 hour glucose
19 10625067 2 S1PR5 A C exonic synonymous SNV S1PR5:NM_001166215:exon2:c.T621G:p.A207A,S1PR5:NM_030760:exon2:c.T621G:p.A207A
19 10668452 2 KRI1 A G exonic synonymous SNV KRI1:NM_023008:exon15:c.T1497C:p.F499F RS3745255 Gene expression of KRI1 [probe 218798_at] in lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid arthritis:Height:Gene expression of SLC44A2 in blood:Variant Creutzfeldt-Jakob disease:Gene expression of ATG4D (ENSG00000130734) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of ATG4D (ENSG00000130734) in dendritic cells after treatment with Mycobacterium tuberculosis:Advanced age-related macular degeneration
19 10668673 2 KRI1 A G exonic nonsynonymous SNV KRI1:NM_023008:exon14:c.T1352C:p.L451P RS1982074 Spine bone mineral density (BMD):Hip bone mineral density (BMD):HDL cholesterol change with statins:LDL cholesterol:Total cholesterol:Microalbuminuria:Gene expression of AC011461.6///CDKN2D in blood:Gene expression of S1PR5 in blood:Gene expression of ATG4D///AC011461.6 in blood
19 10679240 2 CDKN2D C G exonic synonymous SNV CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R
19 11224265 2 LDLR A G exonic synonymous SNV LDLR:NM_001195800:exon8:c.A909G:p.R303R,LDLR:NM_001195799:exon9:c.A1290G:p.R430R,LDLR:NM_001195803:exon9:c.A1032G:p.R344R,LDLR:NM_000527:exon10:c.A1413G:p.R471R,LDLR:NM_001195798:exon10:c.A1413G:p.R471R RS5930 Differential splicing of LDLR [probeset 3821042] in lymphoblastoid cell lines:LDL cholesterol:Schizophrenia:LDL cholesterol:Total cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure:Variant Creutzfeldt-Jakob disease:LDL cholesterol:College completion:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration:LDL cholesterol response after 40mg daily simvastatin treatment:Hypertension (early onset hypertension)
19 11233941 2 LDLR A G exonic synonymous SNV LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R,LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R RS5927 LDL cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:Microalbuminuria:Bipolar disorder:College completion
19 11303943 2 KANK2 A G exonic synonymous SNV KANK2:NM_015493:exon2:c.T813C:p.V271V,KANK2:NM_001329451:exon3:c.T813C:p.V271V,KANK2:NM_001136191:exon4:c.T813C:p.V271V RS3745681 LDL cholesterol:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy)
19 11319636 2 DOCK6 G A exonic nonsynonymous SNV DOCK6:NM_020812:exon38:c.C4895T:p.A1632V
19 11508177 2 RGL3 G A exonic nonsynonymous SNV RGL3:NM_001035223:exon17:c.C1843T:p.R615C,RGL3:NM_001161616:exon17:c.C1861T:p.R621C RS2291516 Differential exon level expression of MGC20983 [probe 3850930] in brain cortex:Differential exon level expression of RAB3D [probe 3850831] in brain cortex:Gene expression of C19orf39 [probe 3821183] in brain cortex:Differential exon level expression of C19orf39 [probe 3821189] in brain cortex:Gene expression of UNQ501 [probe 3850832] in brain cortex:Gene expression of PRKCSH///ELAVL3 in blood:Advanced age-related macular degeneration (geographic atrophy):Gene expression of LPPR2 (ENSG00000105520) in dendritic cells treated with Mycobacterium tuberculosis:Tetrology of fallot
19 11526759 2 RGL3 G A exonic nonsynonymous SNV RGL3:NM_001035223:exon5:c.C491T:p.A164V,RGL3:NM_001161616:exon5:c.C491T:p.A164V
19 11526765 2 RGL3 G T exonic nonsynonymous SNV RGL3:NM_001035223:exon5:c.C485A:p.P162H,RGL3:NM_001161616:exon5:c.C485A:p.P162H RS167479 Total cholesterol:Gene expression change of CCDC151 (ENSG00000198003) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CCDC151 (ENSG00000198003) in dendritic cells:Gene expression of PRKCSH (ENSG00000130175) in dendritic cells treated with Mycobacterium tuberculosis
19 11943697 2 ZNF440 G A exonic nonsynonymous SNV ZNF440:NM_152357:exon4:c.G1706A:p.S569N RS400106 Differential exon level expression of ZNF440 [probe 3821417] in peripheral blood mononuclear cells:Triglycerides change with statins:Suicide attempts in bipolar disorder:Systolic blood pressure (SBP):Adiponectin levels:Amyotrophic lateral sclerosis (ALS)
19 12989560 2 DNASE2 G A exonic synonymous SNV DNASE2:NM_001375:exon4:c.C435T:p.S145S RS2293682 Irritible bowel syndrome:Arthritis including non-Rheumatoid:LDL cholesterol:Gene expression of C19orf56 in blood:Gene expression of PRDX2 in blood:Gene expression of MAST1///DNASE2 in blood:Gene expression of GCDH in blood:Mitral annular calcium:Aortic valve calcium
19 13010520 2 GCDH A G exonic nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R RS8012 Rheumatoid arthritis:Gene expression of GCDH in blood cells in Celiac disease:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with dexamethasone:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with PGE2:Gene expression of MAST1 [transcript NM_014975, probe A_23_P101480] in liver:Gene expression of MAST1///DNASE2 in blood:Gene expression of PRDX2 in blood:Gene expression of GCDH in blood:Resistance to kuru in aged women despite likely exposure:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases
19 14561722 2 PKN1 A G exonic synonymous SNV PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L RS8107892 HDL cholesterol change with statins:Triglycerides
19 14682804 2 NDUFB7 G C exonic synonymous SNV NDUFB7:NM_004146:exon1:c.C9G:p.A3A RS9543 HOMA-B:Total cholesterol:Diastolic blood pressure (DBP)
19 15233581 2 ILVBL C A exonic synonymous SNV ILVBL:NM_006844:exon6:c.G639T:p.L213L RS2074265 2 hour glucose:Gene expression of ILVBL in peripheral blood monocytes:Age at death with kuru exposure:Advanced age-related macular degeneration:Gene expression of ILVBL in normal prepouch ileum:Aspirin-exacerbated respiratory disease
19 15285052 2 NOTCH3 T C exonic synonymous SNV NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P
19 15292437 2 NOTCH3 T C exonic synonymous SNV NOTCH3:NM_000435:exon17:c.A2742G:p.P914P
19 15302844 2 NOTCH3 T C exonic synonymous SNV NOTCH3:NM_000435:exon4:c.A606G:p.A202A
19 15508362 2 AKAP8L G C exonic nonsynonymous SNV AKAP8L:NM_001291478:exon11:c.C1191G:p.H397Q,AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q
19 15784386 2 CYP4F12 C T exonic nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C47T:p.T16M
19 15789140 2 CYP4F12 A G exonic nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A268G:p.I90V
19 16339715 2 AP1M1 C T exonic synonymous SNV AP1M1:NM_032493:exon9:c.C1023T:p.I341I,AP1M1:NM_001130524:exon10:c.C1059T:p.I353I RS3752797 Chronic kidney disease:HDL cholesterol:Years of education:Gene expression of AP1M1 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
19 16976286 2 SIN3B A G exonic synonymous SNV SIN3B:NM_001297597:exon2:c.A219G:p.L73L,SIN3B:NM_001297595:exon11:c.A1449G:p.L483L,SIN3B:NM_015260:exon12:c.A1545G:p.L515L
19 17886940 2 FCHO1 G A exonic synonymous SNV FCHO1:NM_001161359:exon14:c.G1002A:p.A334A,FCHO1:NM_001161358:exon15:c.G1152A:p.A384A,FCHO1:NM_001161357:exon16:c.G1152A:p.A384A,FCHO1:NM_015122:exon16:c.G1152A:p.A384A RS2287854 Total cholesterol:LDL cholesterol change with statins:Chronic kidney disease
19 18248146 2 MAST3 T C exonic synonymous SNV MAST3:NM_015016:exon18:c.T1983C:p.A661A RS541225 HDL cholesterol:Cystatin C in serum:Refractive error
19 18255359 2 MAST3 G A exonic nonsynonymous SNV MAST3:NM_015016:exon22:c.G2581A:p.G861S RS8108738 HDL cholesterol:Cystatin C in serum:Diastolic blood pressure (DBP):Gene expression of IL12RB1 in blood:Gene expression of MAST3 in blood:Transmission distortion
19 18257750 2 MAST3 C T exonic synonymous SNV MAST3:NM_015016:exon25:c.C3135T:p.G1045G RS2072490 HDL cholesterol:Cystatin C in serum
19 18273047 2 PIK3R2 T C exonic nonsynonymous SNV PIK3R2:NM_005027:exon8:c.T937C:p.S313P RS1011320 HDL cholesterol:Total cholesterol:Triglycerides:Refractive error:Tetrology of fallot
19 18279638 2 PIK3R2 T C exonic synonymous SNV PIK3R2:NM_005027:exon15:c.T1911C:p.S637S RS273269 PROP taste detection threshold
19 18480609 2 PGPEP1 C T exonic synonymous SNV PGPEP1:NM_001329471:exon5:c.C531T:p.P177P RS7226 Irritible bowel syndrome:Triglycerides:Gene expression of LRRC25///PGPEP1 in blood:Gene expression of ELL///PGPEP1 in blood:PROP taste detection threshold:Tetrology of fallot
19 18497024 2 GDF15 G C exonic nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L RS1059519 PROP taste detection threshold:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 18679379 2 KXD1 C G exonic nonsynonymous SNV KXD1:NM_001171949:exon5:c.C469G:p.P157A,KXD1:NM_024069:exon5:c.C469G:p.P157A,KXD1:NM_001171948:exon6:c.C469G:p.P157A
19 18980172 2 GDF1 G A exonic nonsynonymous SNV GDF1:NM_001492:exon8:c.C353T:p.A118V
19 19011244 2 COPE T C exonic synonymous SNV COPE:NM_199442:exon7:c.A597G:p.P199P,COPE:NM_199444:exon7:c.A594G:p.P198P,COPE:NM_007263:exon8:c.A750G:p.P250P,COPE:NM_001330469:exon9:c.A819G:p.P273P RS1127821 Neuroblastoma (brain cancer):Adiponectin levels:Gene expression of DDX49 (ENSG00000105671) in dendritic cells treated with Mycobacterium tuberculosis
19 19040312 2 HOMER3 G C exonic nonsynonymous SNV HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R
19 19049198 2 HOMER3 G A exonic synonymous SNV HOMER3:NM_001145724:exon3:c.C267T:p.Y89Y,HOMER3:NM_001145721:exon4:c.C267T:p.Y89Y,HOMER3:NM_001145722:exon4:c.C267T:p.Y89Y,HOMER3:NM_004838:exon4:c.C267T:p.Y89Y RS1064351 LDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Adiponectin levels
19 19735257 2 LPAR2 G T exonic synonymous SNV LPAR2:NM_004720:exon3:c.C864A:p.S288S
19 20002439 2 ZNF253 G T exonic nonsynonymous SNV ZNF253:NM_001331134:exon2:c.G155T:p.G52V,ZNF253:NM_001331133:exon3:c.G191T:p.G64V,ZNF253:NM_021047:exon4:c.G383T:p.G128V
19 20003109 2 ZNF253 A G exonic synonymous SNV ZNF253:NM_001331134:exon2:c.A825G:p.L275L,ZNF253:NM_001331133:exon3:c.A861G:p.L287L,ZNF253:NM_021047:exon4:c.A1053G:p.L351L
19 21300462 2 ZNF714 A G exonic nonsynonymous SNV ZNF714:NM_182515:exon5:c.A992G:p.K331R RS2884554 Gene expression of ZNF714 (probeID ILMN_1748254) in temporal cortex in non-Alzheimer's disease samples:Gene expression of ZNF714 (probeID ILMN_1748254) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy)
19 21365595 1 ZNF431 G A exonic synonymous SNV ZNF431:NM_001319124:exon5:c.G492A:p.E164E,ZNF431:NM_133473:exon5:c.G489A:p.E163E,ZNF431:NM_001319126:exon6:c.G216A:p.E72E,ZNF431:NM_001319127:exon6:c.G168A:p.E56E
19 21476641 1 ZNF708 G C exonic nonsynonymous SNV ZNF708:NM_001297561:exon3:c.C935G:p.S312C,ZNF708:NM_001297560:exon4:c.C935G:p.S312C,ZNF708:NM_021269:exon4:c.C1127G:p.S376C
19 21476689 1 ZNF708 T C exonic nonsynonymous SNV ZNF708:NM_001297561:exon3:c.A887G:p.E296G,ZNF708:NM_001297560:exon4:c.A887G:p.E296G,ZNF708:NM_021269:exon4:c.A1079G:p.E360G
19 23837365 2 ZNF675 A C exonic nonsynonymous SNV ZNF675:NM_138330:exon4:c.T370G:p.L124V
19 23926708 2 ZNF681 A G exonic synonymous SNV ZNF681:NM_138286:exon4:c.T1644C:p.H548H
19 29698809 1 UQCRFS1 G A exonic synonymous SNV UQCRFS1:NM_006003:exon2:c.C471T:p.S157S
19 29704002 2 UQCRFS1 T C exonic synonymous SNV UQCRFS1:NM_006003:exon1:c.A24G:p.S8S
19 29704010 2 UQCRFS1 A C exonic nonsynonymous SNV UQCRFS1:NM_006003:exon1:c.T16G:p.S6A RS8100724 Eye color:Stabilized warfarin dose:Differential exon level expression of UQCRFS1 [probe 3857699] in peripheral blood mononuclear cells:Differential exon level expression of UQCRFS1 [probe 3857699] in brain cortex:HOMA-IR:Fasting blood glucose:Refractive error
19 30101339 1 POP4 G A exonic synonymous SNV POP4:NM_006627:exon3:c.G84A:p.E28E
19 30193721 1 C19orf12 G A exonic synonymous SNV C19orf12:NM_001282929:exon2:c.C132T:p.T44T,C19orf12:NM_001282930:exon2:c.C132T:p.T44T,C19orf12:NM_001031726:exon3:c.C357T:p.T119T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_031448:exon3:c.C324T:p.T108T,C19orf12:NM_001282931:exon4:c.C132T:p.T44T
19 32873698 2 ZNF507 A G exonic synonymous SNV ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S RS2270399 Comorbid depressive syndrome and alcohol dependence:Years of education:Adiponectin levels:College completion
19 33117666 2 ANKRD27 T C exonic synonymous SNV ANKRD27:NM_032139:exon16:c.A1488G:p.G496G RS6510271 LDL cholesterol:HDL cholesterol:LDL cholesterol:Suicide attempts in bipolar disorder (males):Lysine/valine ratio
19 33390796 2 CEP89 G A exonic synonymous SNV CEP89:NM_032816:exon16:c.C1842T:p.N614N RS10418340 Lysine/valine ratio
19 33605300 2 GPATCH1 A G exonic nonsynonymous SNV GPATCH1:NM_018025:exon15:c.A2171G:p.H724R RS10416265 Gene expression of LRP3 in blood:Gene expression of GPATCH1 in blood:Age at death with kuru exposure:Lumbar spine bone mineral density (BMD):Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in non-Alzheimer's disease samples:Gene expression of GPATCH1 (probeID ILMN_1655625) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Gene expression of RHPN2 (probeID ILMN_1753143) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Femoral neck bone mineral density (BMD):Gene expression of GPATCH1 (probeID ILMN_1655625) in temporal cortex in Alzheimer's disease cases:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Alzheimer's disease cases:Advanced age-related macular degeneration:Gene expression of RHPN2 (probeID ILMN_1753143) in temporal cortex in Alzheimer's disease cases and controls
19 33698291 1 LRP3 T C exonic nonsynonymous SNV LRP3:NM_002333:exon7:c.T2123C:p.V708A RS3745974 Autism with verbal ability:Autism
19 34842488 2 KIAA0355 T C exonic synonymous SNV KIAA0355:NM_014686:exon13:c.T2895C:p.D965D RS392340 HDL cholesterol:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Gene expression change of PDCD2L (ENSG00000126249) in dendritic cells after treatment with Mycobacterium tuberculosis
19 34843761 2 KIAA0355 C A exonic synonymous SNV KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P
19 34959979 2 UBA2 A G exonic synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S RS7259160 Autism:Adiponectin levels
19 34973413 2 WTIP T C exonic synonymous SNV WTIP:NM_001080436:exon1:c.T534C:p.A178A
19 35175775 1 ZNF302 C T exonic nonsynonymous SNV ZNF302:NM_001012320:exon5:c.C833T:p.T278I,ZNF302:NM_001289182:exon5:c.C836T:p.T279I,ZNF302:NM_001289183:exon5:c.C833T:p.T278I,ZNF302:NM_001289184:exon5:c.C836T:p.T279I,ZNF302:NM_001289185:exon5:c.C836T:p.T279I,ZNF302:NM_001289186:exon5:c.C833T:p.T278I,ZNF302:NM_001289187:exon5:c.C833T:p.T278I,ZNF302:NM_018443:exon5:c.C833T:p.T278I,ZNF302:NM_001289181:exon6:c.C965T:p.T322I RS11543232 Lp-PLA2 mass
19 35422808 1 ZNF30 C T exonic nonsynonymous SNV ZNF30:NM_001099437:exon3:c.C71T:p.S24F,ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F RS10422961 HOMA-B:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of ZNF30 [transcript NM_001099438, probe A_32_P203430] in liver:Presence of peripupillary pigmented ring:Gene expression of ZNF30 (probeID ILMN_1728230) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF30 (probeID ILMN_1728230) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
19 35434238 1 ZNF30 A G exonic nonsynonymous SNV ZNF30:NM_001099437:exon5:c.A371G:p.Q124R,ZNF30:NM_001099438:exon5:c.A371G:p.Q124R,ZNF30:NM_194325:exon5:c.A368G:p.Q123R RS1811 LDL cholesterol:Gene expression of ZNF792 in peripheral blood monocytes:Total cholesterol:Gene expression of FLJ38451 [probe ILMN_19229] in osteoblasts treated with dexamethasone:Lysine/valine ratio:Gene expression of ZNF792 in blood:Gene expression of ZNF30 in blood
19 35435006 1 ZNF30 G A exonic nonsynonymous SNV ZNF30:NM_001099437:exon5:c.G1139A:p.R380K,ZNF30:NM_001099438:exon5:c.G1139A:p.R380K,ZNF30:NM_194325:exon5:c.G1136A:p.R379K RS1345658 LDL cholesterol:Total cholesterol:Lysine/valine ratio:Gene expression of ZNF792 in blood:Gene expression of ZNF30 in blood:Hypertension (early onset hypertension):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 36243089 2 LIN37 T C exonic nonsynonymous SNV LIN37:NM_019104:exon2:c.T47C:p.V16A
19 36486445 2 SDHAF1 G C exonic nonsynonymous SNV SDHAF1:NM_001042631:exon1:c.G269C:p.C90S
19 36530562 1 THAP8 T C exonic nonsynonymous SNV THAP8:NM_001331102:exon3:c.A335G:p.K112R,THAP8:NM_001331103:exon3:c.A206G:p.K69R,THAP8:NM_001331104:exon3:c.A206G:p.K69R,THAP8:NM_152658:exon3:c.A335G:p.K112R RS3810450 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Adiponectin levels:Mitral annular calcium
19 36592627 1 WDR62 G A exonic synonymous SNV WDR62:NM_001083961:exon25:c.G3033A:p.P1011P,WDR62:NM_173636:exon25:c.G3033A:p.P1011P
19 36594659 1 WDR62 A T exonic nonsynonymous SNV WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L RS2074435 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):College completion
19 37210805 2 ZNF567 C T exonic synonymous SNV ZNF567:NM_001322911:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322912:exon5:c.C1086T:p.Y362Y,ZNF567:NM_152603:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001300979:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322913:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322914:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322916:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322917:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322919:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322915:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322918:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322920:exon7:c.C1179T:p.Y393Y RS3108201 LDL cholesterol:Years of education
19 37879589 2 ZNF527 A G exonic nonsynonymous SNV ZNF527:NM_032453:exon5:c.A638G:p.H213R RS4452075 2 hour glucose:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Triglycerides:Age at death with kuru exposure
19 38189616 1 ZNF607 T C exonic synonymous SNV ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T
19 39196745 1 ACTN4 C T exonic synonymous SNV ACTN4:NM_001322033:exon5:c.C546T:p.N182N,ACTN4:NM_004924:exon5:c.C546T:p.N182N RS3745859 HDL cholesterol:Triglycerides:Bipolar disorder:Adiponectin levels:Birth weight
19 39913634 1 PLEKHG2 G A exonic nonsynonymous SNV PLEKHG2:NM_001351693:exon18:c.G1763A:p.R588H,PLEKHG2:NM_022835:exon18:c.G1940A:p.R647H RS10407035 Barnes Akathisia Rating Scale:Late onset Alzheimer's disease:Gene expression of CCM2 in blood:Diastolic blood pressure (DBP):Tetrology of fallot:Gene expression of RPS16 in normal prepouch ileum
19 39914748 1 PLEKHG2 G A exonic nonsynonymous SNV PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K RS31726 Gene expression of RPS16 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension (early onset hypertension):Aortic valve calcium:Maternal transmission distortion
19 39915758 1 PLEKHG2 C G exonic nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A RS31728 LDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of SAMD4B (ENSG00000179134) in dendritic cells:Gene expression of RPS16 in normal prepouch ileum:Aortic valve calcium
19 39944082 1 SUPT5H C T exonic synonymous SNV SUPT5H:NM_003169:exon2:c.C162T:p.Y54Y,SUPT5H:NM_001111020:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130824:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130825:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319990:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319991:exon3:c.C162T:p.Y54Y
19 40023308 2 EID2B A G exonic synonymous SNV EID2B:NM_152361:exon1:c.T135C:p.A45A
19 41255500 2 C19orf54 C G exonic nonsynonymous SNV C19orf54:NM_198476:exon1:c.G209C:p.R70P RS2254343 Gene expression of FLJ41131 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:Gene expression of C19orf54 (probeID ILMN_1729546) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression of C19orf54 (probeID ILMN_1729546) in temporal cortex in Alzheimer's disease cases and controls
19 41627401 2 CYP2F1 G C exonic nonsynonymous SNV CYP2F1:NM_000774:exon5:c.G523C:p.V175L
19 41627402 2 CYP2F1 T G exonic nonsynonymous SNV CYP2F1:NM_000774:exon5:c.T524G:p.V175G
19 41811730 2 HNRNPUL1 T C exonic synonymous SNV HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T
19 41903220 1 EXOSC5 G A exonic nonsynonymous SNV EXOSC5:NM_020158:exon1:c.C14T:p.T5M RS10853751 Eye color:Stabilized warfarin dose:Differential exon level expression of TMEM91 [probe 3834195] in peripheral blood mononuclear cells:2 hour glucose:Fasting insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Height:Gene expression of EXOSC5 [transcript NM_020158, probe A_24_P211151] in liver:Gene expression of BCKDHA///B3GNT8 in blood:Gene expression of BCKDHA///ATP5SL in blood:Gene expression of TMEM91 in blood:Advanced age-related macular degeneration:Gene expression of BCKDHA in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 41928652 1 BCKDHA C T exonic synonymous SNV BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F RS284652 Gene expression of BCKDHA in normal prepouch ileum
19 41930396 1 BCKDHA A G exonic synonymous SNV BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L RS4674 2 hour glucose:Fasting insulin:HOMA-B:Chronic kidney disease:Height:Advanced age-related macular degeneration:Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of BCKDHA in normal prepouch ileum
19 41939297 1 ATP5SL C G exonic nonsynonymous SNV ATP5SL:NM_001167871:exon4:c.G395C:p.C132S,ATP5SL:NM_001320839:exon4:c.G413C:p.C138S,ATP5SL:NM_001320840:exon4:c.G413C:p.C138S,ATP5SL:NM_001320844:exon4:c.G395C:p.C132S,ATP5SL:NM_001167867:exon5:c.G494C:p.C165S,ATP5SL:NM_018035:exon5:c.G476C:p.C159S RS1043413 Exon skipping of ATP5SL [probeset 3863093] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Fasting insulin:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
19 42736267 2 GSK3A A G exonic synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L
19 44047550 2 XRCC1 T C exonic synonymous SNV XRCC1:NM_006297:exon17:c.A1896G:p.Q632Q
19 44047826 2 XRCC1 T A exonic nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y
19 44377357 2 ZNF404 C T exonic nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S
19 44419030 2 ZNF45 A G exonic synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H
19 44496070 1 ZNF155 A G exonic synonymous SNV ZNF155:NM_001260486:exon4:c.A219G:p.Q73Q,ZNF155:NM_001260487:exon4:c.A219G:p.Q73Q,ZNF155:NM_003445:exon4:c.A219G:p.Q73Q,ZNF155:NM_198089:exon4:c.A219G:p.Q73Q,ZNF155:NM_001260488:exon5:c.A252G:p.Q84Q
19 44500478 2 ZNF155 A T exonic nonsynonymous SNV ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F
19 44500761 2 ZNF155 G A exonic nonsynonymous SNV ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H
19 44501116 2 ZNF155 A G exonic synonymous SNV ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E
19 44501227 2 ZNF155 A G exonic synonymous SNV ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G
19 44515352 1 ZNF230 T G exonic synonymous SNV ZNF230:NM_006300:exon5:c.T1161G:p.T387T RS1060880 Triglycerides:HOMA-B:Rheumatoid arthritis:Methylation levels at chr19:49221102-49221152 [hg18 coord, probe cg10604333] in Temporal cortex:LDL cholesterol:Total cholesterol
19 44515514 1 ZNF230 C A exonic nonsynonymous SNV ZNF230:NM_006300:exon5:c.C1323A:p.D441E RS12753 Triglycerides:HOMA-B:Rheumatoid arthritis:Methylation levels at chr19:49221102-49221152 [hg18 coord, probe cg10604333] in Temporal cortex:LDL cholesterol:Total cholesterol
19 44570551 2 ZNF223 G A exonic synonymous SNV ZNF223:NM_013361:exon5:c.G570A:p.A190A RS4375771 HOMA-IR:LDL cholesterol change with statins
19 44571154 1 ZNF223 T C exonic synonymous SNV ZNF223:NM_013361:exon5:c.T1173C:p.H391H
19 44610665 2 ZNF224 A G exonic nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A352G:p.M118V,ZNF224:NM_013398:exon6:c.A352G:p.M118V RS2068061 Bipolar disorder:Irritible bowel syndrome:Differential exon level expression of ZNF223 [probe 3835379] in brain cortex:LDL cholesterol change with statins:Gene expression of ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in blood:Bipolar disorder:Tetrology of fallot:Gene expression of ZNF230 in normal prepouch ileum:Gene expression of ZNF223 in normal prepouch ileum
19 44610798 2 ZNF224 A T exonic nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A485T:p.H162L,ZNF224:NM_013398:exon6:c.A485T:p.H162L
19 44981525 1 ZNF180 G A exonic synonymous SNV ZNF180:NM_001278508:exon4:c.C1098T:p.S366S,ZNF180:NM_001288761:exon4:c.C144T:p.S48S,ZNF180:NM_001288762:exon4:c.C144T:p.S48S,ZNF180:NM_001278509:exon5:c.C1092T:p.S364S,ZNF180:NM_001288759:exon5:c.C1170T:p.S390S,ZNF180:NM_001291633:exon5:c.C1092T:p.S364S,ZNF180:NM_013256:exon5:c.C1173T:p.S391S,ZNF180:NM_001288760:exon7:c.C144T:p.S48S RS2020083 Height (Pygmy height)
19 45162038 2 PVR A G exonic nonsynonymous SNV PVR:NM_001135770:exon6:c.A1020G:p.I340M,PVR:NM_006505:exon6:c.A1020G:p.I340M RS203710 Simpson-Angus Scale:Serum creatinine
19 45476422 2 CLPTM1 T C exonic synonymous SNV CLPTM1:NM_001282175:exon3:c.T222C:p.A74A,CLPTM1:NM_001294:exon3:c.T264C:p.A88A RS204481 Infant head circumference
19 45490570 1 CLPTM1 A G exonic synonymous SNV CLPTM1:NM_001282175:exon8:c.A885G:p.P295P,CLPTM1:NM_001282176:exon8:c.A621G:p.P207P,CLPTM1:NM_001294:exon8:c.A927G:p.P309P RS3786505 HDL cholesterol:HOMA-B:HDL cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Height:Gene expression of APOC4 [transcript NM_001646, probe A_23_P27450] in liver
19 45490636 1 CLPTM1 T C exonic synonymous SNV CLPTM1:NM_001282175:exon8:c.T951C:p.G317G,CLPTM1:NM_001282176:exon8:c.T687C:p.G229G,CLPTM1:NM_001294:exon8:c.T993C:p.G331G RS204468 HDL cholesterol:HOMA-B:HDL cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Gene expression of RELB (ENSG00000104856) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ZNF296 (ENSG00000170684) in dendritic cells treated with Mycobacterium tuberculosis
19 45561063 2 CLASRP A G exonic nonsynonymous SNV CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E
19 45801018 2 MARK4 T C exonic synonymous SNV MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R
19 45912002 1 CD3EAP A C exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A782C:p.K261T,CD3EAP:NM_012099:exon3:c.A776C:p.K259T RS735482 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Gene expression of ERCC1 in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Salmonella-induced pyroptosis
19 45912343 1 CD3EAP A G exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E,CD3EAP:NM_012099:exon3:c.A1117G:p.K373E RS762562 Chronic kidney disease:Serum creatinine:Cystatin C in serum:Salmonella-induced pyroptosis
19 45912406 1 CD3EAP G A exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N,CD3EAP:NM_012099:exon3:c.G1180A:p.D394N RS2336219 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of ERCC1 in peripheral blood monocytes:Gene expression of ERCC1 in blood:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Primary rhegmatogenous retinal detachment:Salmonella-induced pyroptosis
19 45923653 2 ERCC1 A G exonic synonymous SNV ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N RS11615 Cystatin C in serum:LDL cholesterol:Plasma aldosterone concentration:Body mass index (BMI):Neuroblastoma (brain cancer):Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression of FOSB in blood:Gene expression of VASP in blood:Resistance to kuru in aged women despite likely exposure:Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment
19 46269313 2 SIX5 G C exonic nonsynonymous SNV SIX5:NM_175875:exon3:c.C1666G:p.L556V
19 46289392 2 DMWD G C exonic synonymous SNV DMWD:NM_004943:exon3:c.C1362G:p.P454P
19 46319415 1 SYMPK G C exonic synonymous SNV SYMPK:NM_004819:exon26:c.C3381G:p.A1127A
19 46404579 2 MYPOP A G exonic synonymous SNV MYPOP:NM_001012643:exon2:c.T453C:p.P151P
19 46520026 2 CCDC61 A G exonic nonsynonymous SNV CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R RS2287306 LDL cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol
19 47177913 2 PRKD2 A G exonic nonsynonymous SNV PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A
19 47543774 2 NPAS1 G A exonic synonymous SNV NPAS1:NM_001321086:exon5:c.G507A:p.Q169Q,NPAS1:NM_002517:exon9:c.G1035A:p.Q345Q RS3745615 Triglycerides:Body mass index (BMI):Refractive error
19 47548678 2 NPAS1 G A exonic synonymous SNV NPAS1:NM_002517:exon12:c.G1542A:p.A514A
19 47980153 1 KPTN G A exonic synonymous SNV KPTN:NM_001291296:exon8:c.C738T:p.P246P,KPTN:NM_007059:exon10:c.C906T:p.P302P RS2293424 Tardive dyskinesia:Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:Major depressive disorder:Total cholesterol:HDL cholesterol:Infant head circumference:Gene expression of ZNF541 (ENSG00000118156) in dendritic cells
19 48182946 2 BICRA T C exonic synonymous SNV BICRA:NM_015711:exon6:c.T519C:p.P173P
19 48183114 2 BICRA A G exonic synonymous SNV BICRA:NM_015711:exon6:c.A687G:p.T229T
19 48244194 2 EHD2 A G exonic synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L RS7255434 Triglycerides:Triglycerides
19 49217261 2 MAMSTR A G exonic synonymous SNV MAMSTR:NM_001297753:exon5:c.T261C:p.R87R,MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R RS281385 Serum creatinine:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Aortic valve calcium
19 49513273 1 RUVBL2 C T exonic synonymous SNV RUVBL2:NM_001321190:exon8:c.C511T:p.L171L,RUVBL2:NM_001321191:exon8:c.C478T:p.L160L,RUVBL2:NM_006666:exon8:c.C613T:p.L205L RS1062708 Gene expression of RUVBL2 in lymphoblastoid cell lines:Differential splicing of RUVBL2 [probeset 3838136] in lymphoblastoid cell lines:Schizophrenia:Ischemic stroke:Type 2 diabetes:2 hour glucose:Total cholesterol:Gene expression of LHB [transcript NM_000894, probe A_23_P218505] in liver:Tetrology of fallot
19 49950298 1 PIH1D1 C T exonic nonsynonymous SNV PIH1D1:NM_017916:exon7:c.G670A:p.V224I RS13394 LDL cholesterol:Gene expression of ALDH16A1 (ENSG00000161618) in dendritic cells:Gene expression of ALDH16A1 (ENSG00000161618) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of RCN3 (ENSG00000142552) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ALDH16A1 (probeID ILMN_2051381) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ALDH16A1 (probeID ILMN_2051381) in cerebellum in Alzheimer's disease cases and controls:Gene expression change of RCN3 (ENSG00000142552) in dendritic cells after treatment with Mycobacterium tuberculosis
19 49954803 1 PIH1D1 C T exonic nonsynonymous SNV PIH1D1:NM_017916:exon1:c.G29A:p.G10E RS2293013 Rheumatoid arthritis
19 49954807 1 PIH1D1 T G exonic nonsynonymous SNV PIH1D1:NM_017916:exon1:c.A25C:p.M9L RS2293012 Prostate cancer
19 49964977 1 ALDH16A1 C G exonic nonsynonymous SNV ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V,ALDH16A1:NM_153329:exon6:c.C679G:p.L227V RS1320303 LDL cholesterol:Gene expression of PIH1D1 (ENSG00000104872) in dendritic cells treated with Mycobacterium tuberculosis
19 50140092 2 RRAS G A exonic synonymous SNV RRAS:NM_006270:exon3:c.C333T:p.N111N RS1865077 Differential exon level expression of RRAS [probe 3867971] in peripheral blood mononuclear cells:Premature ovarian failure:Simpson-Angus Scale:HOMA-B:Microalbuminuria:Gene expression of IRF3 in blood:Gene expression of NOSIP in blood:Paternal transmission distortion:Transmission distortion
19 50154904 2 SCAF1 A C exonic nonsynonymous SNV SCAF1:NM_021228:exon7:c.A1258C:p.T420P
19 50156896 2 SCAF1 T C exonic synonymous SNV SCAF1:NM_021228:exon7:c.T3250C:p.L1084L
19 50383591 2 TBC1D17 A G exonic nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.A152G:p.D51G,TBC1D17:NM_024682:exon4:c.A251G:p.D84G
19 50411742 2 NUP62 A G exonic synonymous SNV NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D
19 50412417 2 NUP62 G A exonic synonymous SNV NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S RS999583 Urinary albumin-to-creatinine ratio
19 50726570 1 MYH14 G A exonic synonymous SNV MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A RS4801822 LDL cholesterol:Coronary artery disease (CAD):Salmonella-induced pyroptosis
19 50762418 2 MYH14 A G exonic synonymous SNV MYH14:NM_024729:exon17:c.A2127G:p.P709P,MYH14:NM_001077186:exon18:c.A2151G:p.P717P,MYH14:NM_001145809:exon19:c.A2250G:p.P750P
19 50796905 2 MYH14 G A exonic synonymous SNV MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S RS3745509 2 hour glucose:Obesity with early age of onset (age >2):Mitral annular calcium
19 51607507 1 CTU1 G A exonic nonsynonymous SNV CTU1:NM_145232:exon2:c.C320T:p.A107V
19 53117531 2 ZNF83 C T exonic nonsynonymous SNV ZNF83:NM_001277951:exon3:c.G287A:p.S96N,ZNF83:NM_018300:exon3:c.G287A:p.S96N,ZNF83:NM_001105552:exon4:c.G287A:p.S96N,ZNF83:NM_001277946:exon4:c.G287A:p.S96N,ZNF83:NM_001348016:exon4:c.G287A:p.S96N,ZNF83:NM_001105550:exon5:c.G287A:p.S96N,ZNF83:NM_001105551:exon5:c.G287A:p.S96N,ZNF83:NM_001277948:exon5:c.G287A:p.S96N,ZNF83:NM_001277949:exon5:c.G287A:p.S96N,ZNF83:NM_001277952:exon5:c.G287A:p.S96N,ZNF83:NM_001105549:exon6:c.G287A:p.S96N,ZNF83:NM_001277945:exon6:c.G287A:p.S96N,ZNF83:NM_001277947:exon6:c.G287A:p.S96N,ZNF83:NM_001348018:exon6:c.G287A:p.S96N,ZNF83:NM_001348015:exon7:c.G287A:p.S96N,ZNF83:NM_001348017:exon7:c.G287A:p.S96N,ZNF83:NM_001348019:exon7:c.G287A:p.S96N RS1056185 Hip bone mineral density (BMD):PROP taste detection threshold
19 53117809 2 ZNF83 C A exonic synonymous SNV ZNF83:NM_001277951:exon3:c.G9T:p.G3G,ZNF83:NM_018300:exon3:c.G9T:p.G3G,ZNF83:NM_001105552:exon4:c.G9T:p.G3G,ZNF83:NM_001277946:exon4:c.G9T:p.G3G,ZNF83:NM_001348016:exon4:c.G9T:p.G3G,ZNF83:NM_001105550:exon5:c.G9T:p.G3G,ZNF83:NM_001105551:exon5:c.G9T:p.G3G,ZNF83:NM_001277948:exon5:c.G9T:p.G3G,ZNF83:NM_001277949:exon5:c.G9T:p.G3G,ZNF83:NM_001277952:exon5:c.G9T:p.G3G,ZNF83:NM_001105549:exon6:c.G9T:p.G3G,ZNF83:NM_001277945:exon6:c.G9T:p.G3G,ZNF83:NM_001277947:exon6:c.G9T:p.G3G,ZNF83:NM_001348018:exon6:c.G9T:p.G3G,ZNF83:NM_001348015:exon7:c.G9T:p.G3G,ZNF83:NM_001348017:exon7:c.G9T:p.G3G,ZNF83:NM_001348019:exon7:c.G9T:p.G3G RS10406458 PROP taste detection threshold
19 53217326 1 ZNF611 T C exonic synonymous SNV ZNF611:NM_001161500:exon4:c.A132G:p.S44S,ZNF611:NM_001161499:exon5:c.A132G:p.S44S,ZNF611:NM_030972:exon6:c.A132G:p.S44S
19 53303527 2 ZNF28 A G exonic nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T
19 53384185 1 ZNF320 C T exonic synonymous SNV ZNF320:NM_207333:exon4:c.G1194A:p.A398A RS6509701 Rheumatoid arthritis:Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. controls):Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. Alzheimer's disease without psychotic symptoms):Resistance to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob disease
19 53454789 1 ZNF816 A T exonic nonsynonymous SNV ZNF816:NM_001202456:exon4:c.T239A:p.I80N,ZNF816:NM_001202457:exon4:c.T239A:p.I80N,ZNF816:NM_001031665:exon5:c.T239A:p.I80N RS12459008 Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of ZNF702 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio
19 53572059 1 ZNF160 T C exonic synonymous SNV ZNF160:NM_001322136:exon5:c.A1728G:p.Q576Q,ZNF160:NM_001322129:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001322131:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001322135:exon6:c.A1728G:p.Q576Q,ZNF160:NM_033288:exon6:c.A1728G:p.Q576Q,ZNF160:NM_001102603:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322128:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322130:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322132:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322133:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322134:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322138:exon7:c.A1620G:p.Q540Q,ZNF160:NM_198893:exon7:c.A1728G:p.Q576Q,ZNF160:NM_001322137:exon8:c.A1620G:p.Q540Q,ZNF160:NM_001322139:exon9:c.A1620G:p.Q540Q
19 53572494 1 ZNF160 G T exonic synonymous SNV ZNF160:NM_001322136:exon5:c.C1293A:p.G431G,ZNF160:NM_001322129:exon6:c.C1293A:p.G431G,ZNF160:NM_001322131:exon6:c.C1293A:p.G431G,ZNF160:NM_001322135:exon6:c.C1293A:p.G431G,ZNF160:NM_033288:exon6:c.C1293A:p.G431G,ZNF160:NM_001102603:exon7:c.C1293A:p.G431G,ZNF160:NM_001322128:exon7:c.C1293A:p.G431G,ZNF160:NM_001322130:exon7:c.C1293A:p.G431G,ZNF160:NM_001322132:exon7:c.C1293A:p.G431G,ZNF160:NM_001322133:exon7:c.C1293A:p.G431G,ZNF160:NM_001322134:exon7:c.C1293A:p.G431G,ZNF160:NM_001322138:exon7:c.C1185A:p.G395G,ZNF160:NM_198893:exon7:c.C1293A:p.G431G,ZNF160:NM_001322137:exon8:c.C1185A:p.G395G,ZNF160:NM_001322139:exon9:c.C1185A:p.G395G
19 53572917 1 ZNF160 G A exonic synonymous SNV ZNF160:NM_001322136:exon5:c.C870T:p.C290C,ZNF160:NM_001322129:exon6:c.C870T:p.C290C,ZNF160:NM_001322131:exon6:c.C870T:p.C290C,ZNF160:NM_001322135:exon6:c.C870T:p.C290C,ZNF160:NM_033288:exon6:c.C870T:p.C290C,ZNF160:NM_001102603:exon7:c.C870T:p.C290C,ZNF160:NM_001322128:exon7:c.C870T:p.C290C,ZNF160:NM_001322130:exon7:c.C870T:p.C290C,ZNF160:NM_001322132:exon7:c.C870T:p.C290C,ZNF160:NM_001322133:exon7:c.C870T:p.C290C,ZNF160:NM_001322134:exon7:c.C870T:p.C290C,ZNF160:NM_001322138:exon7:c.C762T:p.C254C,ZNF160:NM_198893:exon7:c.C870T:p.C290C,ZNF160:NM_001322137:exon8:c.C762T:p.C254C,ZNF160:NM_001322139:exon9:c.C762T:p.C254C RS10407463 Fasting blood glucose:Cystatin C in serum:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP):Bipolar disorder
19 53761633 1 VN1R2 C G exonic nonsynonymous SNV VN1R2:NM_173856:exon1:c.C5G:p.T2S
19 53761650 2 VN1R2 A G exonic nonsynonymous SNV VN1R2:NM_173856:exon1:c.A22G:p.T8A
19 53958126 2 ZNF761;ZNF765-ZNF761 T G exonic nonsynonymous SNV ZNF761:NM_001289951:exon6:c.T365G:p.I122S,ZNF761:NM_001289952:exon6:c.T365G:p.I122S,ZNF761:NM_001008401:exon7:c.T365G:p.I122S,ZNF765-ZNF761:NM_001350496:exon14:c.T365G:p.I122S RS2708743 HDL cholesterol:HDL cholesterol:Chronic kidney disease:Lp-PLA2 mass:College completion:Prostate cancer
19 53958263 2 ZNF761;ZNF765-ZNF761 G A exonic nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I RS1984432 HDL cholesterol:Schizophrenia:HDL cholesterol:Gene expression of TEP1 in peripheral blood monocytes:Gene expression of FLJ16231 in CD4+ lymphocytes:Adiponectin levels:College completion
19 54649671 2 CNOT3 T C exonic synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P
19 54652203 1 CNOT3 T C exonic synonymous SNV CNOT3:NM_014516:exon11:c.T1215C:p.G405G RS43211 HDL cholesterol change with statins:Cystatin C in serum:Triglycerides:Parkinson's disease
19 54677759 2 MBOAT7 T C exonic synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P
19 54966579 1 LENG8 C G exonic synonymous SNV LENG8:NM_052925:exon8:c.C858G:p.P286P RS889147 HOMA-B:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of LENG8 (ENSG00000167615) in dendritic cells
19 55570574 2 RDH13 A G exonic synonymous SNV RDH13:NM_001145971:exon2:c.T135C:p.G45G RS1654447 Waist hip ratio:Gene expression of NLRP2 (probeID ILMN_1664878) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of EPS8L1 (probeID ILMN_1671600) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GP6 (probeID ILMN_2223772) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NLRP2 (probeID ILMN_1664878) in temporal cortex in Alzheimer's disease cases
19 55598724 2 EPS8L1 A G exonic nonsynonymous SNV EPS8L1:NM_017729:exon14:c.A1625G:p.K542R,EPS8L1:NM_133180:exon19:c.A2006G:p.K669R RS1054940 Longstanding arthritis:HDL cholesterol:Asthma:Gene expression of TMEM86B in blood:Years of education:College completion
19 55913038 1 UBE2S C T exonic synonymous SNV UBE2S:NM_014501:exon4:c.G435A:p.A145A
19 55994240 2 ZNF628 C T exonic synonymous SNV ZNF628:NM_033113:exon3:c.C1680T:p.H560H
19 56104136 1 FIZ1 T C exonic nonsynonymous SNV FIZ1:NM_032836:exon3:c.A1171G:p.T391A
19 56162776 2 CCDC106 C T exonic synonymous SNV CCDC106:NM_013301:exon5:c.C441T:p.S147S RS2287791 Rheumatoid arthritis:Obesity with early age of onset (age >2):Infant head circumference:Mitral annular calcium
19 56180968 2 U2AF2 C T exonic synonymous SNV U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D RS617073 Major depressive disorder:Rheumatoid arthritis:Infant head circumference:Obesity with early age of onset (age >2):Mitral annular calcium
19 56935527 2 ZNF583 A G exonic synonymous SNV ZNF583:NM_001159860:exon5:c.A1500G:p.A500A,ZNF583:NM_001159861:exon5:c.A1500G:p.A500A,ZNF583:NM_152478:exon5:c.A1500G:p.A500A RS3810340 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Triglycerides change with statins:Platelet aggregation to high dose adp post-aspirin adjusted for pre-aspirin, in European ancestry:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ZNF667 (probeID ILMN_2186127) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF667 (probeID ILMN_2186127) in temporal cortex in non-Alzheimer's disease samples:Gene expression of ZNF667 (probeID ILMN_2186127) in temporal cortex in Alzheimer's disease cases:Gene expression of ZNF667 (probeID ILMN_2186127) in cerebellum in Alzheimer's disease cases:Aortic valve calcium:Gene expression of ZNF667 (probeID ILMN_2186127) in cerebellum in Alzheimer's disease cases and controls
19 57672080 2 DUXA C T exonic synonymous SNV DUXA:NM_001012729:exon2:c.G111A:p.K37K
19 57839150 2 ZNF543 A G exonic nonsynonymous SNV ZNF543:NM_213598:exon4:c.A320G:p.Q107R
19 57839567 2 ZNF543 T A exonic nonsynonymous SNV ZNF543:NM_213598:exon4:c.T737A:p.L246H
19 57865149 1 ZNF304 C T exonic synonymous SNV ZNF304:NM_001290318:exon2:c.C90T:p.L30L,ZNF304:NM_020657:exon2:c.C90T:p.L30L
19 57868336 2 ZNF304 A G exonic nonsynonymous SNV ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E RS862709 Urinary albumin-to-creatinine ratio:Parkinson's disease
19 58355699 2 ZNF587B T C exonic nonsynonymous SNV ZNF587B:NM_001204818:exon4:c.T1198C:p.C400R
19 58384779 1 ZNF814 A T exonic nonsynonymous SNV ZNF814:NM_001144989:exon3:c.T1979A:p.F660Y
19 58384812 1 ZNF814 T C exonic nonsynonymous SNV ZNF814:NM_001144989:exon3:c.A1946G:p.N649S
19 58453342 1 ZNF256 T C exonic synonymous SNV ZNF256:NM_005773:exon3:c.A834G:p.Q278Q RS959231 LDL cholesterol change with statins
19 58806083 1 ZNF8 T C exonic synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H RS260471 HOMA-B:Fasting insulin:Chronic kidney disease:Gene expression of ZNF274 [transcript NM_016325, probe A_23_P153251] in liver:Gene expression of ZNF8 in normal prepouch ileum
19 58879965 2 ZNF837 A G exonic synonymous SNV ZNF837:NM_138466:exon3:c.T735C:p.S245S
19 58879976 2 ZNF837 C T exonic nonsynonymous SNV ZNF837:NM_138466:exon3:c.G724A:p.A242T
19 58945962 2 ZNF132 C T exonic synonymous SNV ZNF132:NM_003433:exon3:c.G849A:p.K283K RS9941466 HDL cholesterol change with statins
19 58982384 2 ZNF324 A G exonic synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R
19 59074653 1 MZF1 T C exonic nonsynonymous SNV MZF1:NM_003422:exon6:c.A991G:p.I331V,MZF1:NM_198055:exon6:c.A991G:p.I331V RS4756 HDL cholesterol:LDL cholesterol:Advanced age-related macular degeneration
19 71401607 2
19 118678364 2
19 148681299 2
20 371972 1 TRIB3 T C exonic synonymous SNV TRIB3:NM_001301188:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301190:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301193:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301196:exon3:c.T333C:p.Y111Y,TRIB3:NM_021158:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301201:exon4:c.T414C:p.Y138Y RS6051637 Birth weight
20 825678 2 FAM110A T C exonic synonymous SNV FAM110A:NM_031424:exon1:c.T231C:p.F77F,FAM110A:NM_001042353:exon2:c.T231C:p.F77F,FAM110A:NM_001289146:exon2:c.T231C:p.F77F,FAM110A:NM_001289147:exon2:c.T231C:p.F77F,FAM110A:NM_207121:exon2:c.T231C:p.F77F,FAM110A:NM_001289145:exon3:c.T231C:p.F77F
20 1099523 2 PSMF1 T G exonic nonsynonymous SNV PSMF1:NM_001323408:exon1:c.T107G:p.F36C,PSMF1:NM_001323409:exon1:c.T107G:p.F36C,PSMF1:NM_001323410:exon1:c.T107G:p.F36C,PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C RS1803415 Differential exon level expression of PSMF1 [probe 3873394] in peripheral blood mononuclear cells:Late onset Alzheimer's disease:Parkinson's disease
20 1592265 2 SIRPB1 A G exonic synonymous SNV SIRPB1:NM_001135844:exon2:c.T171C:p.T57T,SIRPB1:NM_001329157:exon2:c.T171C:p.T57T
20 1592284 2 SIRPB1 G A exonic nonsynonymous SNV SIRPB1:NM_001135844:exon2:c.C152T:p.T51I,SIRPB1:NM_001329157:exon2:c.C152T:p.T51I
20 2633936 2 NOP56 T C exonic synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S
20 2945759 1 PTPRA C T exonic nonsynonymous SNV PTPRA:NM_080840:exon5:c.C326T:p.P109L,PTPRA:NM_080841:exon5:c.C326T:p.P109L,PTPRA:NM_002836:exon9:c.C326T:p.P109L RS1178027 Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Asthma:Neuroblastoma (brain cancer)
20 3147762 2 LZTS3 A G exonic synonymous SNV LZTS3:NM_001282533:exon3:c.T48C:p.D16D
20 3285140 2 C20orf194 T C exonic nonsynonymous SNV C20orf194:NM_001009984:exon21:c.A1729G:p.R577G RS2422864 Major depressive disorder:Fasting blood glucose:Serum creatinine:Chronic kidney disease:Asthma:Microalbuminuria:Urinary albumin-to-creatinine ratio:Suicide attempts in bipolar disorder:PROP taste detection threshold:Bipolar disorder
20 3564672 2 ATRN C T exonic synonymous SNV ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_001323332:exon17:c.C2892T:p.Y964Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y RS235540 Aortic valve calcium:Mitral annular calcium
20 3870124 2 PANK2 G C exonic nonsynonymous SNV PANK2:NM_001324192:exon1:c.G377C:p.G126A,PANK2:NM_153638:exon1:c.G377C:p.G126A
20 4164283 2 SMOX A G exonic synonymous SNV SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T RS1741327 Differential exon level expression of SMOX [probe 3874654] in brain cortex:Gene expression of SMOX in blood:Adiponectin levels
20 5939214 1 MCM8 A C exonic synonymous SNV MCM8:NM_001281520:exon7:c.A631C:p.R211R,MCM8:NM_001281521:exon7:c.A631C:p.R211R,MCM8:NM_001281522:exon7:c.A631C:p.R211R,MCM8:NM_032485:exon7:c.A631C:p.R211R,MCM8:NM_182802:exon7:c.A631C:p.R211R RS3761873 Height:Birth weight:Hypertension (early onset hypertension)
20 5943956 1 MCM8 G C exonic nonsynonymous SNV MCM8:NM_001281520:exon8:c.G826C:p.A276P,MCM8:NM_001281521:exon8:c.G826C:p.A276P,MCM8:NM_001281522:exon8:c.G826C:p.A276P,MCM8:NM_032485:exon8:c.G826C:p.A276P,MCM8:NM_182802:exon8:c.G826C:p.A276P
20 5948542 1 MCM8 G A exonic nonsynonymous SNV MCM8:NM_001281520:exon10:c.G1094A:p.S365N,MCM8:NM_001281521:exon10:c.G1094A:p.S365N,MCM8:NM_001281522:exon10:c.G1094A:p.S365N,MCM8:NM_032485:exon10:c.G1094A:p.S365N,MCM8:NM_182802:exon10:c.G1046A:p.S349N
20 6751034 2 BMP2 A G exonic synonymous SNV BMP2:NM_001200:exon2:c.A261G:p.S87S
20 6759115 2 BMP2 A T exonic nonsynonymous SNV BMP2:NM_001200:exon3:c.A570T:p.R190S RS235768 Response to Lithium Treatment for Bipolar disorder:Serum creatinine:LDL cholesterol:Type 2 diabetes
20 13029764 2 SPTLC3 A C exonic synonymous SNV SPTLC3:NM_018327:exon2:c.A289C:p.R97R,SPTLC3:NM_001349945:exon3:c.A289C:p.R97R
20 13695680 1 ESF1 C T exonic synonymous SNV ESF1:NM_001276380:exon14:c.G2397A:p.R799R,ESF1:NM_016649:exon14:c.G2397A:p.R799R RS6110019 HDL cholesterol:Adiponectin levels
20 13747441 2 ESF1 A G exonic nonsynonymous SNV ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T RS3180370 HDL cholesterol change with statins:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Years of education:Salmonella-induced pyroptosis:Tetrology of fallot
20 14306896 1 FLRT3 G A exonic synonymous SNV FLRT3:NM_013281:exon2:c.C1257T:p.T419T,FLRT3:NM_198391:exon3:c.C1257T:p.T419T RS6042672 Rheumatoid arthritis:Advanced age-related macular degeneration (geographic atrophy)
20 16359567 2 KIF16B A G exonic nonsynonymous SNV KIF16B:NM_001199865:exon19:c.T3080C:p.M1027T,KIF16B:NM_001199866:exon19:c.T3080C:p.M1027T,KIF16B:NM_024704:exon19:c.T3080C:p.M1027T RS6034464 Lp-PLA2 activity:Asthma:Gene expression of C20orf23 in blood
20 17605240 2 RRBP1 A T exonic nonsynonymous SNV RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H
20 18143117 2 KAT14 T G exonic nonsynonymous SNV KAT14:NM_020536:exon6:c.T1199G:p.V400G
20 18143355 2 KAT14 C T exonic synonymous SNV KAT14:NM_020536:exon6:c.C1437T:p.P479P RS1205194 Stabilized warfarin dose:Gene expression of C20orf72 [probe ILMN_24256] in untreated osteoblasts:Resistance to kuru in aged women despite likely exposure:Tetrology of fallot:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Primary rhegmatogenous retinal detachment:Advanced age-related macular degeneration:Hypertension (early onset hypertension)
20 18167977 2 KAT14 T C exonic synonymous SNV KAT14:NM_020536:exon10:c.T2223C:p.P741P
20 18296072 2 ZNF133 T A exonic nonsynonymous SNV ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T
20 18462421 1 POLR3F A G exonic synonymous SNV POLR3F:NM_001282526:exon8:c.A717G:p.T239T,POLR3F:NM_006466:exon8:c.A840G:p.T280T RS1055171 Birth weight
20 18523002 1 SEC23B C G exonic nonsynonymous SNV SEC23B:NM_001172745:exon13:c.C1467G:p.H489Q,SEC23B:NM_001172746:exon13:c.C1413G:p.H471Q,SEC23B:NM_006363:exon13:c.C1467G:p.H489Q,SEC23B:NM_032985:exon13:c.C1467G:p.H489Q,SEC23B:NM_032986:exon13:c.C1467G:p.H489Q RS2273526 Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of DTD1 (probeID ILMN_1774432) in cerebellum in Alzheimer's disease cases and controls
20 19970705 2 RIN2 C T exonic synonymous SNV RIN2:NM_018993:exon8:c.C1818T:p.H606H,RIN2:NM_001242581:exon9:c.C1965T:p.H655H RS2076584 College completion
20 20032998 1 CRNKL1 T C exonic nonsynonymous SNV CRNKL1:NM_001278625:exon2:c.A436G:p.T146A,CRNKL1:NM_016652:exon2:c.A472G:p.T158A RS2255255 Schizophrenia:Gene expression of CRNKL1 in CD4+ lymphocytes:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of CRNKL1 in blood:Hypertension (early onset hypertension):Mitral annular calcium
20 23618395 2 CST3 T C exonic synonymous SNV CST3:NM_000099:exon1:c.A105G:p.L35L,CST3:NM_001288614:exon1:c.A105G:p.L35L
20 25187213 2 ENTPD6 G A exonic nonsynonymous SNV ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N RS2076559 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of CT022_HUMAN in blood cells in Celiac disease:Schizophrenia:Differential exon level expression of ABHD12 [probe 3901876] in brain cortex:Differential exon level expression of ENTPD6 [probe 3880722] in peripheral blood mononuclear cells:Tardive dyskinesia:HOMA-B:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Gene expression of PYGB in CD4+ lymphocytes:Height:Gene expression of PYGB in blood:Gene expression of [probe 2710615 centered at chr20:25223568] in blood:Gene expression of [probe 7610382 centered at chr20:25229091] in blood:Systolic blood pressure (SBP):Tetrology of fallot:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25259006 1 PYGB G T exonic nonsynonymous SNV PYGB:NM_002862:exon8:c.G907T:p.A303S RS2228976 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years of education
20 25260931 2 PYGB A G exonic synonymous SNV PYGB:NM_002862:exon10:c.A1122G:p.A374A RS2227890 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:Height:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PYGB (probeID ILMN_1778360) in whole blood:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 in normal prepouch ileum:Years of education:Gene expression of ABHD12 (probeID ILMN_1745116) in whole blood:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PYGB in normal prepouch ileum:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25262769 1 PYGB G A exonic nonsynonymous SNV PYGB:NM_002862:exon12:c.G1504A:p.D502N RS2227891 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:Years of education:Gene expression change of PYGB (ENSG00000100994) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25264814 2 PYGB T C exonic synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D RS2227892 Gene expression of C20orf22 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of PYGB in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:LDL cholesterol:Total cholesterol:Height:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls
20 25276297 2 PYGB G A exonic synonymous SNV PYGB:NM_002862:exon19:c.G2370A:p.Q790Q RS1130694 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Frontal cortex:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years of education:Gene expression of ABHD12 in normal prepouch ileum:Gene expression of PYGB in normal prepouch ileum
20 25282944 2 ABHD12 A G exonic synonymous SNV ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D
20 25456888 2 NINL A G exonic synonymous SNV NINL:NM_025176:exon17:c.T3039C:p.S1013S RS437635 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:College completion:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls
20 30795819 2 POFUT1 T C exonic synonymous SNV POFUT1:NM_015352:exon1:c.T75C:p.P25P,POFUT1:NM_172236:exon1:c.T75C:p.P25P
20 31022959 2 ASXL1 T C exonic nonsynonymous SNV ASXL1:NM_015338:exon12:c.T2444C:p.L815P
20 31386347 2 DNMT3B T C exonic synonymous SNV DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C,DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C RS6058891 2 hour glucose:HDL cholesterol:Height:Infant head circumference
20 32379263 2 ZNF341 T C exonic synonymous SNV ZNF341:NM_001282935:exon14:c.T2235C:p.A745A,ZNF341:NM_001282933:exon15:c.T2505C:p.A835A,ZNF341:NM_032819:exon15:c.T2484C:p.A828A
20 32664926 1 RALY G A exonic nonsynonymous SNV RALY:NM_007367:exon7:c.G703A:p.G235S,RALY:NM_016732:exon8:c.G751A:p.G251S
20 36030939 2 SRC G C exonic synonymous SNV SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A
20 36147572 1 BLCAP T C exonic nonsynonymous SNV BLCAP:NM_001167821:exon2:c.A5G:p.Y2C,BLCAP:NM_001167822:exon2:c.A5G:p.Y2C,BLCAP:NM_001167823:exon2:c.A5G:p.Y2C,BLCAP:NM_001317074:exon2:c.A5G:p.Y2C,BLCAP:NM_001317075:exon2:c.A5G:p.Y2C,BLCAP:NM_006698:exon2:c.A5G:p.Y2C,BLCAP:NM_001167820:exon3:c.A5G:p.Y2C
20 37377139 1 ACTR5 C T exonic synonymous SNV ACTR5:NM_024855:exon1:c.C18T:p.F6F
20 37383640 1 ACTR5 T C exonic synonymous SNV ACTR5:NM_024855:exon4:c.T816C:p.N272N RS2748663 Arthritis including non-Rheumatoid:LDL cholesterol:Schizophrenia:Gene expression of ACTR5 [probe 3884800] in peripheral blood mononuclear cells:Total cholesterol:Asthma:Gene expression of ACTR5 in blood
20 39797465 1 PLCG1 T C exonic nonsynonymous SNV PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T RS386611104 Gene expression of THNSL1 [probe 222931_s_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Body mass index (BMI):Gene expression of [probe 5290575 centered at chr20:39239179] in blood:Metabolic syndrome domains (Central obesity):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC2):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC1):Metabolic syndrome domains (Vascular Inflammation - PC2):Metabolic syndrome domains (Elevated plasma glucose):Metabolic syndrome domains (Multivariate analysis):PROP taste detection threshold:Infant head circumference:Amyotrophic lateral sclerosis (ALS) age of onset:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Total cholesterol:Coronary artery disease (CAD):Birth weight:Mitral annular calcium:Prostate cancer
20 42320881 1 MYBL2 C T exonic synonymous SNV MYBL2:NM_001278610:exon5:c.C513T:p.D171D,MYBL2:NM_002466:exon6:c.C585T:p.D195D
20 42328639 1 MYBL2 T C exonic synonymous SNV MYBL2:NM_001278610:exon6:c.T834C:p.P278P,MYBL2:NM_002466:exon7:c.T906C:p.P302P RS285162 Height:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP)
20 42331457 1 MYBL2 A G exonic nonsynonymous SNV MYBL2:NM_001278610:exon7:c.A1207G:p.S403G,MYBL2:NM_002466:exon8:c.A1279G:p.S427G RS2070235 Lp-PLA2 mass:Birth weight
20 42939750 2 FITM2 T C exonic synonymous SNV FITM2:NM_001080472:exon1:c.A39G:p.G13G
20 43566787 1 PABPC1L A G exonic synonymous SNV PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S RS11780 SYS1 (Transcript:AI096624 ) gene expression in psoriasis case, uninvolved tissue:PROP taste detection threshold:Years of education
20 44054349 2 PIGT T C exonic synonymous SNV PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y RS707577 Schizophrenia:Recurrent early onset major depressive disorder (males):Recurrent early onset major depressive disorder (females):Recurrent early onset major depressive disorder:LDL cholesterol:Total cholesterol:Gene expression of C20orf35 [probe ILMN_16777] in osteoblasts treated with dexamethasone:Gene expression of C20orf169 in blood:Systolic blood pressure (SBP):Gene expression of WFDC2 (probeID ILMN_1706612) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID ILMN_1756590) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID ILMN_1706612) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SYS1 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of WFDC2 (probeID ILMN_1799120) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID ILMN_1799120) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID ILMN_1756590) in cerebellum in Alzheimer's disease cases and controls
20 44441403 1 UBE2C C G exonic nonsynonymous SNV UBE2C:NM_001281741:exon1:c.C69G:p.S23R,UBE2C:NM_001281742:exon1:c.C69G:p.S23R,UBE2C:NM_007019:exon1:c.C69G:p.S23R,UBE2C:NM_181799:exon1:c.C69G:p.S23R,UBE2C:NM_181800:exon1:c.C69G:p.S23R
20 44470676 2 SNX21 T C exonic synonymous SNV SNX21:NM_152897:exon5:c.T594C:p.S198S RS3848713 Triglycerides:2 hour glucose:Methylation levels at chr20:43889508-43889558 [hg18 coord, probe cg08201421] in Cerebellum:HDL cholesterol:Triglycerides:Infant head circumference:Gene expression of DNTTIP1 in normal prepouch ileum:Gene expression of WFDC3 (probeID ILMN_2308903) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WFDC3 (probeID ILMN_2308903) in temporal cortex in Alzheimer's disease cases and controls
20 44506661 1 ZSWIM3 G A exonic synonymous SNV ZSWIM3:NM_080752:exon2:c.G1464A:p.P488P RS17446462 2 hour glucose:LDL cholesterol:Diastolic blood pressure (DBP):Glaucoma (primary open-angle glaucoma):Parkinson's disease
20 44520579 1 CTSA C G exonic synonymous SNV CTSA:NM_000308:exon3:c.C273G:p.P91P,CTSA:NM_001127695:exon3:c.C219G:p.P73P,CTSA:NM_001167594:exon3:c.C273G:p.P91P RS742035 2 hour glucose:LDL cholesterol:Diastolic blood pressure (DBP):Parkinson's disease
20 44996182 2 ELMO2 A G exonic synonymous SNV ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_001318253:exon22:c.T1716C:p.D572D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D
20 45853037 2 ZMYND8 A G exonic synonymous SNV ZMYND8:NM_001281771:exon18:c.T2733C:p.T911T,ZMYND8:NM_001281776:exon18:c.T2808C:p.T936T,ZMYND8:NM_001281781:exon18:c.T2835C:p.T945T,ZMYND8:NM_001281782:exon18:c.T2895C:p.T965T,ZMYND8:NM_001281784:exon18:c.T2973C:p.T991T,ZMYND8:NM_001281775:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281777:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281778:exon19:c.T3114C:p.T1038T,ZMYND8:NM_001281783:exon19:c.T3189C:p.T1063T,ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281773:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281774:exon20:c.T2991C:p.T997T,ZMYND8:NM_001281779:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281780:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281772:exon21:c.T3129C:p.T1043T
20 46268493 1 NCOA3 A G exonic synonymous SNV NCOA3:NM_001174087:exon15:c.A2880G:p.T960T,NCOA3:NM_001174088:exon15:c.A2865G:p.T955T,NCOA3:NM_006534:exon15:c.A2880G:p.T960T,NCOA3:NM_181659:exon15:c.A2880G:p.T960T RS2076546 Total cholesterol:HDL cholesterol:Comorbid depressive syndrome and alcohol dependence
20 46279827 1 NCOA3 G A exonic synonymous SNV NCOA3:NM_001174087:exon20:c.G3750A:p.Q1250Q,NCOA3:NM_001174088:exon20:c.G3726A:p.Q1242Q,NCOA3:NM_006534:exon20:c.G3741A:p.Q1247Q,NCOA3:NM_181659:exon20:c.G3753A:p.Q1251Q
20 46279866 1 NCOA3 A G exonic synonymous SNV NCOA3:NM_001174087:exon20:c.A3789G:p.Q1263Q,NCOA3:NM_001174088:exon20:c.A3765G:p.Q1255Q,NCOA3:NM_006534:exon20:c.A3780G:p.Q1260Q,NCOA3:NM_181659:exon20:c.A3792G:p.Q1264Q
20 47630449 1 ARFGEF2 C T exonic synonymous SNV ARFGEF2:NM_006420:exon30:c.C4131T:p.I1377I RS2281582 Hip bone mineral density (BMD):Barnes Akathisia Rating Scale:Height:Body mass index (BMI):Cognitive response to topiramate treatment:Salmonella-induced pyroptosis
20 47865372 1 ZNFX1 G A exonic synonymous SNV ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L RS238208 Triglycerides change with statins:Height:Salmonella-induced pyroptosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 47886684 1 ZNFX1 G A exonic synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y RS57950 Height:Gene expression of ZNFX1 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Salmonella-induced pyroptosis
20 48257149 2 B4GALT5 C T exonic synonymous SNV B4GALT5:NM_004776:exon6:c.G660A:p.E220E RS421801 Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of B4GALT5 in peripheral blood monocytes:Asthma:Gene expression of B4GALT5 [probeset 221484_at] in sputum:PROP taste detection threshold:Obesity with early age of onset (age >2)
20 48259034 1 B4GALT5 A G exonic synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L RS2235855 HOMA-B:Total cholesterol:PROP taste detection threshold
20 48746189 1 TMEM189;TMEM189-UBE2V1 C T exonic synonymous SNV TMEM189:NM_001162505:exon4:c.G363A:p.P121P,TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P RS6122878 Gene expression of TMEM189 in peripheral blood monocytes
20 48770159 2 TMEM189;TMEM189-UBE2V1 T C exonic nonsynonymous SNV TMEM189:NM_001162505:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D
20 48808011 1 CEBPB C T exonic synonymous SNV CEBPB:NM_001285878:exon1:c.C372T:p.A124A,CEBPB:NM_005194:exon1:c.C441T:p.A147A
20 54961463 1 AURKA T C exonic nonsynonymous SNV AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_001323303:exon4:c.A169G:p.I57V,AURKA:NM_001323304:exon4:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_001323305:exon5:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V RS1047972 Eye color:Triglycerides:Height:Gene expression of C20orf108 in blood:Age at death with kuru exposure:Gene expression of CSTF1 (ENSG00000101138) in dendritic cells treated with Mycobacterium tuberculosis
20 54961541 1 AURKA A T exonic nonsynonymous SNV AURKA:NM_003600:exon3:c.T91A:p.F31I,AURKA:NM_198435:exon3:c.T91A:p.F31I,AURKA:NM_198437:exon3:c.T91A:p.F31I,AURKA:NM_001323303:exon4:c.T91A:p.F31I,AURKA:NM_001323304:exon4:c.T91A:p.F31I,AURKA:NM_198434:exon4:c.T91A:p.F31I,AURKA:NM_198436:exon4:c.T91A:p.F31I,AURKA:NM_001323305:exon5:c.T91A:p.F31I,AURKA:NM_198433:exon5:c.T91A:p.F31I RS2273535 Simpson-Angus Scale:Serum creatinine:Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease
20 55088404 2 RTFDC1 A G exonic nonsynonymous SNV RTFDC1:NM_001283036:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283035:exon7:c.A601G:p.M201V RS1059768 Amyotrophic lateral sclerosis (ALS):Alzheimer's disease:HOMA-B:Amyotrophic lateral sclerosis (ALS):Parkinson's disease
20 57572675 2 CTSZ A G exonic synonymous SNV CTSZ:NM_001336:exon4:c.T621C:p.Y207Y
20 60713311 2 PSMA7 G A exonic synonymous SNV PSMA7:NM_002792:exon5:c.C507T:p.R169R
20 60713332 2 PSMA7 A G exonic synonymous SNV PSMA7:NM_002792:exon5:c.T486C:p.G162G RS1135961 HDL cholesterol:Total cholesterol
20 60881330 2 ADRM1 G A exonic synonymous SNV ADRM1:NM_001281437:exon3:c.G291A:p.A97A,ADRM1:NM_001281438:exon3:c.G291A:p.A97A,ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A
20 60881780 2 ADRM1 T C exonic synonymous SNV ADRM1:NM_001281437:exon4:c.T414C:p.L138L,ADRM1:NM_001281438:exon4:c.T414C:p.L138L,ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L
20 60892526 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon55:c.T7386C:p.D2462D
20 60900481 2 LAMA5 A G exonic nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S
20 60900579 2 LAMA5 C A exonic synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T
20 60904853 2 LAMA5 T C exonic nonsynonymous SNV LAMA5:NM_005560:exon32:c.A4099G:p.K1367E RS2427286 Triglycerides:2 hour glucose
20 60905878 2 LAMA5 A G exonic nonsynonymous SNV LAMA5:NM_005560:exon30:c.T3773C:p.M1258T RS3810548 2 hour glucose:Birth weight
20 60907446 2 LAMA5 T C exonic synonymous SNV LAMA5:NM_005560:exon28:c.A3534G:p.E1178E
20 60907675 2 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon27:c.C3381T:p.A1127A
20 60909060 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon23:c.T2775C:p.P925P
20 60912683 2 LAMA5 T C exonic synonymous SNV LAMA5:NM_005560:exon16:c.A2127G:p.T709T RS2427289 Urinary albumin-to-creatinine ratio
20 60921643 2 LAMA5 T C exonic nonsynonymous SNV LAMA5:NM_005560:exon9:c.A1201G:p.T401A
20 60927349 2 LAMA5 C T exonic synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A RS483876 Urinary albumin-to-creatinine ratio
20 60927412 2 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon4:c.C573T:p.S191S RS624313 Cystatin C in serum:Serum creatinine:Adiponectin levels
20 60937597 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon2:c.T309C:p.C103C RS477859 Serum creatinine:Gene expression of OSBPL2 in peripheral blood monocytes:Gene expression of CABLES2 in peripheral blood monocytes
20 61443687 1 OGFR G A exonic synonymous SNV OGFR:NM_007346:exon7:c.G720A:p.T240T
20 61444939 1 OGFR G C exonic nonsynonymous SNV OGFR:NM_007346:exon7:c.G1972C:p.G658R
20 61512606 2 DIDO1 T C exonic nonsynonymous SNV DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A,DIDO1:NM_033081:exon16:c.A4702G:p.T1568A
20 61528074 1 DIDO1 T C exonic synonymous SNV DIDO1:NM_001193369:exon7:c.A1863G:p.A621A,DIDO1:NM_001193370:exon7:c.A1863G:p.A621A,DIDO1:NM_033081:exon7:c.A1863G:p.A621A,DIDO1:NM_080797:exon7:c.A1863G:p.A621A
20 61588159 2 SLC17A9 A G exonic synonymous SNV SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T RS2245341 2 hour glucose:LDL cholesterol
20 61594679 2 SLC17A9 A G exonic nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S
20 62194030 1 HELZ2 G C exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.C4438G:p.Q1480E,HELZ2:NM_001037335:exon9:c.C6145G:p.Q2049E RS3810483 Triglycerides
20 62194103 1 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon3:c.T4365C:p.P1455P,HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P
20 62195087 1 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon3:c.T3381C:p.S1127S,HELZ2:NM_001037335:exon9:c.T5088C:p.S1696S RS310630 LDL cholesterol
20 62196253 1 HELZ2 C A exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.G2215T:p.V739L,HELZ2:NM_001037335:exon9:c.G3922T:p.V1308L RS310631 LDL cholesterol:Gene expression of RP4-583P15.5///SLC2A4RG in blood
20 62196807 2 HELZ2 T C exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R
20 62196884 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon3:c.T1584C:p.T528T,HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T
20 62198236 2 HELZ2 G A exonic synonymous SNV HELZ2:NM_033405:exon1:c.C768T:p.R256R,HELZ2:NM_001037335:exon7:c.C2475T:p.R825R
20 62198348 2 HELZ2 C T exonic nonsynonymous SNV HELZ2:NM_033405:exon1:c.G656A:p.S219N,HELZ2:NM_001037335:exon7:c.G2363A:p.S788N RS438363 HDL cholesterol:Serum creatinine:Gene expression of C20orf195 in CD4+ lymphocytes:Advanced age-related macular degeneration
20 62198662 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon1:c.T342C:p.Y114Y,HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y
20 62200575 2 HELZ2 T C exonic synonymous SNV HELZ2:NM_001037335:exon5:c.A1014G:p.S338S
20 62200860 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_001037335:exon5:c.T729C:p.A243A RS1757752 HDL cholesterol:Gene expression change of PTK6 (ENSG00000101213) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of STMN3 (ENSG00000197457) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of PTK6 (ENSG00000101213) in dendritic cells
20 62221610 2 GMEB2 T C exonic synonymous SNV GMEB2:NM_012384:exon10:c.A1425G:p.L475L RS311496 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Serum creatinine
20 62227081 2 GMEB2 A G exonic synonymous SNV GMEB2:NM_012384:exon6:c.T501C:p.H167H RS311489 Cystatin C in serum:Serum creatinine
20 62328453 1 TNFRSF6B T C exonic synonymous SNV TNFRSF6B:NM_003823:exon1:c.T333C:p.R111R
20 62331989 1 ARFRP1 T G exonic synonymous SNV ARFRP1:NM_001267546:exon6:c.A342C:p.R114R,ARFRP1:NM_001134758:exon7:c.A483C:p.R161R,ARFRP1:NM_001267547:exon7:c.A483C:p.R161R,ARFRP1:NM_001267548:exon7:c.A483C:p.R161R,ARFRP1:NM_001267549:exon7:c.A483C:p.R161R,ARFRP1:NM_003224:exon7:c.A483C:p.R161R
20 62340115 2 ZGPAT C G exonic nonsynonymous SNV ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R RS1291212 Serum creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
20 62372813 2 SLC2A4RG G A exonic synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P RS2427536 Schizophrenia:Serum creatinine:HDL cholesterol:Gene expression of EEF1A2 [probe ILMN_2929] in osteoblasts with treatment interaction:Gene expression of ZGPAT///RP4-583P15.5 in blood:Gene expression of RP4-583P15.5///SLC2A4RG in blood
20 62373707 1 SLC2A4RG G T exonic nonsynonymous SNV SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D RS8957 LDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression change of LIME1 (ENSG00000203896) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of ZGPAT (ENSG00000197114) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SLC2A4RG (ENSG00000125520) in dendritic cells
21 10910347 2 TPTE A G exonic nonsynonymous SNV TPTE:NM_001290224:exon17:c.T995C:p.L332P,TPTE:NM_199260:exon20:c.T1295C:p.L432P,TPTE:NM_199259:exon21:c.T1355C:p.L452P,TPTE:NM_199261:exon22:c.T1409C:p.L470P
21 16340289 2 NRIP1 C T exonic synonymous SNV NRIP1:NM_003489:exon4:c.G225A:p.G75G RS2229741 Spatial recognition memory percent correct:LDL cholesterol:Systolic blood pressure (SBP):Age at death with kuru exposure
21 30250555 2 N6AMT1 T C exonic nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R
21 30257568 2 N6AMT1 T C exonic nonsynonymous SNV N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D
21 33694224 2 URB1 C G exonic nonsynonymous SNV URB1:NM_014825:exon34:c.G5371C:p.V1791L RS3761342 2 hour glucose:Obesity with early age of onset (age >2)
21 33719695 2 URB1 C T exonic synonymous SNV URB1:NM_014825:exon22:c.G3438A:p.K1146K
21 33755763 2 URB1 G A exonic synonymous SNV URB1:NM_014825:exon4:c.C535T:p.L179L RS2833795 Rheumatoid arthritis:Triglycerides:Hemoglobin (Hb):Total cholesterol:LDL cholesterol:Triglycerides
21 34640788 2 IL10RB A G exonic nonsynonymous SNV IL10RB:NM_000628:exon2:c.A139G:p.K47E RS2834167 Triglycerides:Alzheimer's disease:Gene expression of IL10RB in peripheral blood monocytes:Gene expression of IL10RB [transcript NM_000628, probe A_24_P322741] in liver:Gene expression of IFNAR1 in blood:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in non-Alzheimer's disease samples:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease cases:Transmission distortion:Refractive error:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Progressive Supranuclear Palsy cases
21 34787312 2 IFNGR2 A G exonic nonsynonymous SNV IFNGR2:NM_005534:exon2:c.A191G:p.Q64R,IFNGR2:NM_001329128:exon3:c.A248G:p.Q83R RS9808753 Barnes Akathisia Rating Scale:LDL cholesterol:Rheumatoid arthritis:Neuroblastoma (brain cancer):Gene expression of IFNAR1 in blood:Gene expression of IFNGR2 in blood:Gene expression of IL10RB in blood:Gene expression of [probe 4480647 centered at chr21:33733423] in blood:Coronary artery calcification (CAC)
21 34897113 2 GART C T exonic nonsynonymous SNV GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I RS8788 Years of education:College completion:Birth weight
21 34925142 2 SON C T exonic nonsynonymous SNV SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L
21 34926260 2 SON C T exonic nonsynonymous SNV SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C RS13047599 HDL cholesterol:Serum creatinine:Gene expression of TMEM50B in blood:Years of education:Birth weight:College completion
21 35281393 2 ATP5O A G exonic synonymous SNV ATP5O:NM_001697:exon4:c.T321C:p.N107N RS4591 Comorbid depressive syndrome and alcohol dependence:Gene expression of ATP5O in normal prepouch ileum
21 35467645 2 SLC5A3 A G exonic nonsynonymous SNV SLC5A3:NM_006933:exon2:c.A148G:p.T50A
21 35469193 2 SLC5A3 C A exonic nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K
21 37617630 2 DOPEY2 T G exonic nonsynonymous SNV DOPEY2:NM_001320714:exon19:c.T3352G:p.C1118G,DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G RS4817788 Serum creatinine:Partial epilepsy:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy)
21 37692589 2 MORC3 A T exonic synonymous SNV MORC3:NM_015358:exon1:c.A27T:p.I9I
21 38444863 2 PIGP C T exonic nonsynonymous SNV PIGP:NM_153681:exon1:c.G25A:p.A9T
21 43161022 2 RIPK4 C T exonic synonymous SNV RIPK4:NM_020639:exon8:c.G2331A:p.T777T
21 43161357 2 RIPK4 T C exonic nonsynonymous SNV RIPK4:NM_020639:exon8:c.A1996G:p.M666V RS3746891 Triglycerides
21 43161805 2 RIPK4 G A exonic synonymous SNV RIPK4:NM_020639:exon8:c.C1548T:p.D516D RS2838113 LDL cholesterol:Gene expression change of RIPK4 (ENSG00000183421) in dendritic cells after treatment with Mycobacterium tuberculosis:Infant head circumference
21 43161877 2 RIPK4 C T exonic synonymous SNV RIPK4:NM_020639:exon8:c.G1476A:p.A492A RS3746893 LDL cholesterol:Bipolar disorder:Infant head circumference
21 43162150 2 RIPK4 G A exonic synonymous SNV RIPK4:NM_020639:exon8:c.C1203T:p.G401G RS3746894 LDL cholesterol:Bipolar disorder:Infant head circumference
21 43221483 2 PRDM15 A G exonic nonsynonymous SNV PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_001282934:exon25:c.T3514C:p.S1172P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P
21 43221826 2 PRDM15 T C exonic synonymous SNV PRDM15:NM_001040424:exon24:c.A3111G:p.L1037L,PRDM15:NM_001282934:exon25:c.A3171G:p.L1057L,PRDM15:NM_022115:exon31:c.A4098G:p.L1366L RS2236696 HOMA-B
21 43327856 2 C2CD2 A G exonic synonymous SNV C2CD2:NM_199050:exon8:c.T591C:p.F197F,C2CD2:NM_015500:exon9:c.T1056C:p.F352F RS3746906 Total cholesterol:Cystatin C in serum
21 44837551 2 LOC102724428;SIK1 G A exonic synonymous SNV LOC102724428:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P
21 44837555 2 LOC102724428;SIK1 G A exonic nonsynonymous SNV LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V RS430554 Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Adiponectin levels
21 45217559 2 RRP1 T C exonic synonymous SNV RRP1:NM_003683:exon7:c.T600C:p.I200I RS2838378 Gene expression of CSTB [probe 201201_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Gene expression of CSTB in peripheral blood monocytes:Height:Age-related macular degeneration:PROP taste detection threshold:Temperament in bipolar disorder (Anxious):Gene expression of CSTB in normal prepouch ileum
21 46875564 2 COL18A1 T C exonic synonymous SNV COL18A1:NM_030582:exon1:c.T120C:p.H40H,COL18A1:NM_130444:exon1:c.T120C:p.H40H
21 47777063 2 PCNT G A exonic nonsynonymous SNV PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E
21 47783796 2 PCNT T C exonic synonymous SNV PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A
21 47786817 2 PCNT C G exonic synonymous SNV PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L RS2839228 Gene expression of C21orf57 [probe 227421_at] in lymphoblastoid cell lines:Chronic kidney disease:HDL cholesterol:LDL cholesterol:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease cases and controls
21 47787002 2 PCNT T C exonic nonsynonymous SNV PCNT:NM_001315529:exon15:c.T2759C:p.V920A,PCNT:NM_006031:exon15:c.T3113C:p.V1038A RS6518289 Gene expression of C21orf57 [probe 227421_at] in lymphoblastoid cell lines:Chronic kidney disease:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease cases and controls:Docetaxel response in lymphoblastoid cell lines:Gene expression of C21orf57 (probeID ILMN_1656297) in temporal cortex in Alzheimer's disease cases and controls
22 17630486 2 HDHD5 C A exonic synonymous SNV HDHD5:NM_017829:exon2:c.G186T:p.G62G,HDHD5:NM_033070:exon2:c.G276T:p.G92G RS1034859 Hip bone mineral density (BMD):Irritible bowel syndrome:Differential exon level expression of CECR5 [probe 3951757] in brain cortex:Serum creatinine:Gene expression of CECR5 in peripheral blood monocytes:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Birth weight:Tetrology of fallot:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
22 18209613 2 BCL2L13 A G exonic synonymous SNV BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S RS4488761 Stabilized warfarin dose:Gene expression of BCL2L13 in blood:Gene expression of BID in blood:Comorbid depressive syndrome and alcohol dependence:Aortic valve calcium
22 18901004 2 PRODH C T exonic nonsynonymous SNV PRODH:NM_001195226:exon13:c.G1238A:p.R413Q,PRODH:NM_016335:exon14:c.G1562A:p.R521Q RS450046 Celiac disease:Triglycerides:LDL cholesterol:Differential exon level expression of PRODH [probe 3952364] in brain cortex:HOMA-B:Triglycerides change with statins:Body mass index (BMI):Endometriosis
22 19184095 1 CLTCL1 T C exonic nonsynonymous SNV CLTCL1:NM_001835:exon25:c.A3946G:p.M1316V,CLTCL1:NM_007098:exon25:c.A3946G:p.M1316V RS1061325 Rheumatoid arthritis:LDL cholesterol:Gene expression of CLTCL1 in blood:Gene expression of SLC25A1 in blood:Sporadic Creutzfeldt-Jakob disease:Serum Cit:Years of education
22 19197896 2 CLTCL1 T C exonic synonymous SNV CLTCL1:NM_001835:exon20:c.A3189G:p.A1063A,CLTCL1:NM_007098:exon20:c.A3189G:p.A1063A RS698423 Serum Cit:Serum Lac/Cit
22 19789541 2 GNB1L A C exonic nonsynonymous SNV GNB1L:NM_053004:exon7:c.T715G:p.W239G
22 21354970 2 THAP7 C G exonic nonsynonymous SNV THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P
22 21800042 2 HIC2 T C exonic synonymous SNV HIC2:NM_015094:exon3:c.T858C:p.A286A
22 21800444 2 HIC2 T C exonic synonymous SNV HIC2:NM_015094:exon3:c.T1260C:p.H420H
22 23523630 1 BCR C A exonic synonymous SNV BCR:NM_004327:exon1:c.C483A:p.I161I,BCR:NM_021574:exon1:c.C483A:p.I161I
22 24035970 2 RGL4 C T exonic nonsynonymous SNV RGL4:NM_001329424:exon4:c.C721T:p.H241Y,RGL4:NM_153615:exon4:c.C721T:p.H241Y RS2070446 Stabilized warfarin dose:Cystatin C in serum:Microalbuminuria:Maternal transmission distortion:Transmission distortion
22 24086107 1 ZNF70 A G exonic synonymous SNV ZNF70:NM_021916:exon2:c.T1221C:p.I407I RS5759985 LDL cholesterol change with statins:Total cholesterol
22 24087319 1 ZNF70 A C exonic synonymous SNV ZNF70:NM_021916:exon2:c.T9G:p.V3V RS2070451 Alzheimer's disease:LDL cholesterol change with statins:Gene expression of RGL4 in blood:Transmission distortion:Hypertension (early onset hypertension):Maternal transmission distortion
22 24108412 2 CHCHD10 G A exonic synonymous SNV CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y RS9153 Gene expression of VPREB3 (probeID ILMN_1700147) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of VPREB3 (probeID ILMN_1700147) in cerebellum in Alzheimer's disease cases and controls
22 24459438 2 CABIN1 T C exonic synonymous SNV CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C RS762273 Obesity with early age of onset (age >2):Amyotrophic lateral sclerosis (ALS)
22 24717518 1 SPECC1L G A exonic synonymous SNV SPECC1L:NM_001145468:exon4:c.G570A:p.T190T,SPECC1L:NM_001254732:exon4:c.G570A:p.T190T,SPECC1L:NM_015330:exon5:c.G570A:p.T190T RS3747113 Irritible bowel syndrome:Rheumatoid arthritis:PROP taste detection threshold:Aortic valve calcium
22 24717850 2 SPECC1L A G exonic nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G RS204710 Prostate cancer
22 24761467 2 SPECC1L G A exonic nonsynonymous SNV SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M RS204718 Prostate cancer
22 24964128 1 SNRPD3 T C exonic synonymous SNV SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A
22 25577688 2 KIAA1671 G A exonic synonymous SNV KIAA1671:NM_001145206:exon8:c.G5097A:p.E1699E RS763279 Alzheimer's disease:Salmonella-induced pyroptosis:Acute lung injury following major trauma:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
22 25577733 2 KIAA1671 T C exonic synonymous SNV KIAA1671:NM_001145206:exon8:c.T5142C:p.P1714P
22 26937327 2 TPST2 C A exonic synonymous SNV TPST2:NM_001008566:exon3:c.G270T:p.A90A,TPST2:NM_003595:exon3:c.G270T:p.A90A
22 29279991 2 ZNRF3 C T exonic synonymous SNV ZNRF3:NM_001206998:exon1:c.C237T:p.T79T
22 29727866 2 AP1B1 C T exonic synonymous SNV AP1B1:NM_001166019:exon17:c.G2268A:p.A756A,AP1B1:NM_145730:exon17:c.G2328A:p.A776A,AP1B1:NM_001127:exon18:c.G2349A:p.A783A RS174765 Gene expression change of EWSR1 (ENSG00000182944) in dendritic cells after treatment with Mycobacterium tuberculosis
22 29727886 2 AP1B1 T C exonic nonsynonymous SNV AP1B1:NM_001166019:exon17:c.A2248G:p.T750A,AP1B1:NM_145730:exon17:c.A2308G:p.T770A,AP1B1:NM_001127:exon18:c.A2329G:p.T777A
22 29755888 2 AP1B1 T C exonic synonymous SNV AP1B1:NM_001127:exon4:c.A204G:p.L68L,AP1B1:NM_001166019:exon4:c.A204G:p.L68L,AP1B1:NM_145730:exon4:c.A204G:p.L68L RS2072051 LDL cholesterol:Cystatin C in serum:Birth weight
22 29908072 1 THOC5 C T exonic nonsynonymous SNV THOC5:NM_001002879:exon18:c.G1735A:p.V579I,THOC5:NM_003678:exon18:c.G1735A:p.V579I,THOC5:NM_001002877:exon19:c.G1735A:p.V579I,THOC5:NM_001002878:exon19:c.G1735A:p.V579I RS1049534 Fasting insulin:HOMA-IR:HOMA-B:Gene expression of THOC5 (ENSG00000100296) in dendritic cells treated with Mycobacterium tuberculosis
22 29913272 1 THOC5 C T exonic nonsynonymous SNV THOC5:NM_001002879:exon16:c.G1573A:p.V525I,THOC5:NM_003678:exon16:c.G1573A:p.V525I,THOC5:NM_001002877:exon17:c.G1573A:p.V525I,THOC5:NM_001002878:exon17:c.G1573A:p.V525I RS737976 Hip bone mineral density (BMD):Simpson-Angus Scale:Triglycerides change with statins:Body mass index (BMI):Gene expression of NIPSNAP1 in blood:Gene expression of THOC5 in blood:Gene expression of NIPSNAP1 (ENSG00000184117) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of THOC5 in normal prepouch ileum:Years of education:Endometriosis
22 30221201 1 ASCC2 G A exonic nonsynonymous SNV ASCC2:NM_001242906:exon3:c.C127T:p.R43C,ASCC2:NM_032204:exon4:c.C286T:p.R96C RS1894473 Triglycerides
22 30771554 2 CCDC157 T G exonic nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A,CCDC157:NM_001318334:exon10:c.T1759G:p.S587A RS2015035 Gene expression of SF3A1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Gene expression of SF3A1 in blood:Adiponectin levels:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Alzheimer's disease cases:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Alzheimer's disease cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in non-Alzheimer's disease samples
22 31673111 1 LIMK2 A G exonic synonymous SNV LIMK2:NM_001031801:exon15:c.A2046G:p.T682T
22 31673116 1 LIMK2 A G exonic nonsynonymous SNV LIMK2:NM_001031801:exon15:c.A2051G:p.Q684R
22 31722886 1 PATZ1 T G exonic nonsynonymous SNV PATZ1:NM_032050:exon4:c.A1917C:p.E639D,PATZ1:NM_014323:exon5:c.A2055C:p.E685D
22 31971258 2 SFI1 T C exonic nonsynonymous SNV SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_014775:exon10:c.T964C:p.Y322H RS5753700 2 hour glucose:HDL cholesterol:Gene expression of PIK3IP1 in peripheral blood monocytes:Height
22 32784051 2 RTCB T C exonic synonymous SNV RTCB:NM_014306:exon12:c.A1446G:p.V482V RS11635 Gene expression of RFPL3S (probeID ILMN_2401263) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RFPL3S (probeID ILMN_2401263) in cerebellum in Alzheimer's disease cases and controls
22 32795641 2 RTCB C T exonic synonymous SNV RTCB:NM_014306:exon6:c.G603A:p.Q201Q RS5749426 PROP taste detection threshold:Gene expression of RFPL3S (probeID ILMN_2401263) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RFPL3S (probeID ILMN_2401263) in temporal cortex in Alzheimer's disease cases and controls
22 34022284 2 LARGE1 G A exonic synonymous SNV LARGE1:NM_133642:exon4:c.C435T:p.A145A,LARGE1:NM_004737:exon5:c.C435T:p.A145A RS86487 Obesity with early age of onset (age >2)
22 36424450 2 RBFOX2 A C exonic nonsynonymous SNV RBFOX2:NM_001082578:exon1:c.T24G:p.H8Q,RBFOX2:NM_001082579:exon1:c.T24G:p.H8Q,RBFOX2:NM_001349999:exon1:c.T24G:p.H8Q
22 36623731 2 APOL2 T C exonic nonsynonymous SNV APOL2:NM_030882:exon5:c.A733G:p.I245V,APOL2:NM_145637:exon6:c.A733G:p.I245V RS132760 Cystatin C in serum
22 36684354 2 MYH9 T C exonic nonsynonymous SNV MYH9:NM_002473:exon34:c.A4876G:p.I1626V RS2269529 Triglycerides:Alzheimer's disease:Fasting blood glucose:Focal segmental glomerulosclerosis:Height:Gene expression of MYH9 in blood:Paternal transmission distortion
22 36684358 2 MYH9 C A exonic synonymous SNV MYH9:NM_002473:exon34:c.G4872T:p.A1624A RS2269530 Triglycerides:Height:College completion:Years of education
22 36691607 2 MYH9 A C exonic synonymous SNV MYH9:NM_002473:exon26:c.T3429G:p.A1143A RS710181 Chronic kidney disease:Microalbuminuria:Systolic blood pressure (SBP)
22 37453452 2 KCTD17 C T exonic synonymous SNV KCTD17:NM_001282684:exon4:c.C426T:p.H142H,KCTD17:NM_001282685:exon4:c.C426T:p.H142H,KCTD17:NM_001282686:exon4:c.C426T:p.H142H,KCTD17:NM_024681:exon4:c.C426T:p.H142H
22 38341134 2 C22orf23 T C exonic synonymous SNV C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T RS139859 Total cholesterol:Total cholesterol change with statins:Triglycerides change with statins:Methylation levels at chr22:36473064-36473114 [hg18 coord, probe cg25404088] in Cerebellum:Total cholesterol:LDL cholesterol
22 39222652 2 NPTXR G A exonic synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y RS5757299 Rheumatoid arthritis:Gene expression of CBX6 in peripheral blood monocytes:Total cholesterol
22 41551039 2 EP300 T A exonic synonymous SNV EP300:NM_001429:exon17:c.T3183A:p.T1061T RS20552 Serum creatinine:Birth weight
22 41833116 2 TOB2 C T exonic synonymous SNV TOB2:NM_016272:exon2:c.G234A:p.A78A RS202641 Fasting blood glucose:Serum creatinine:Cystatin C in serum:Height:Microalbuminuria:Birth weight
22 42089623 2 C22orf46 T C exonic nonsynonymous SNV C22orf46:NM_001142964:exon2:c.T373C:p.W125R
22 42463814 2 NAGA C T exonic synonymous SNV NAGA:NM_000262:exon3:c.G279A:p.P93P RS133369 Gene expression of C22orf32 [probe 225795_at] in lymphoblastoid cell lines:Gene expression of C22orf32 [probe 225794_s_at] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Methylation levels at chr22:40796291-40796341 [hg18 coord, probe cg27187881] in Caudal pons:Methylation levels at chr22:40796291-40796341 [hg18 coord, probe cg27187881] in Temporal cortex:Height:Gene expression of C22orf32 in normal prepouch ileum:Salmonella-induced pyroptosis
22 43435812 2 TTLL1 C T exonic synonymous SNV TTLL1:NM_012263:exon11:c.G1242A:p.S414S
22 43558926 2 TSPO A G exonic nonsynonymous SNV TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A,TSPO:NM_001256531:exon4:c.A439G:p.T147A RS6971 Schizophrenia:Gene expression of TSPO [probe 3947627] in peripheral blood mononuclear cells:Total cholesterol:LDL cholesterol:Gene expression of CCNC in peripheral blood monocytes:Gene expression of TSPO in blood:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in non-Alzheimer's disease samples:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Alzheimer's disease cases:Infant head circumference:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's disease cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's disease cases and controls
22 44342116 2 PNPLA3 A G exonic nonsynonymous SNV PNPLA3:NM_025225:exon9:c.A1300G:p.K434E RS2294918 Stabilized warfarin dose:HDL cholesterol:Fasting blood glucose:Total cholesterol:Mitral annular calcium
22 44368204 2 SAMM50 A G exonic synonymous SNV SAMM50:NM_015380:exon5:c.A411G:p.G137G RS3177036 Stabilized warfarin dose:HDL cholesterol:Differential exon level expression of SAMM50 [probe 3948009] in peripheral blood mononuclear cells:Neuroblastoma (brain cancer)
22 44379822 2 SAMM50 T C exonic synonymous SNV SAMM50:NM_015380:exon12:c.T1017C:p.L339L
22 44379838 2 SAMM50 A G exonic nonsynonymous SNV SAMM50:NM_015380:exon12:c.A1033G:p.I345V RS8418 Childhood acute lymphoblastic leukemia:Mitral annular calcium
22 44395451 2 PARVB T C exonic nonsynonymous SNV PARVB:NM_001003828:exon2:c.T109C:p.W37R RS1007863 HDL cholesterol:HDL cholesterol:Fatty liver:College completion
22 44489868 2 PARVB T C exonic nonsynonymous SNV PARVB:NM_001243385:exon2:c.T62C:p.V21A,PARVB:NM_001243386:exon2:c.T17C:p.V6A,PARVB:NM_013327:exon2:c.T173C:p.V58A,PARVB:NM_001003828:exon3:c.T272C:p.V91A RS1983609 Autism:Maternal transmission distortion:Transmission distortion
22 45923827 2 FBLN1 A G exonic nonsynonymous SNV FBLN1:NM_001996:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006487:exon4:c.A422G:p.Q141R
22 46677607 2 TTC38 T C exonic nonsynonymous SNV TTC38:NM_017931:exon7:c.T727C:p.F243L
22 46722400 2 GTSE1 T C exonic nonsynonymous SNV GTSE1:NM_016426:exon9:c.T1573C:p.W525R
22 46929692 2 CELSR1 A G exonic nonsynonymous SNV CELSR1:NM_014246:exon1:c.T3376C:p.C1126R RS4823561 HDL cholesterol:LDL cholesterol:Infant head circumference
22 46931077 2 CELSR1 G C exonic nonsynonymous SNV CELSR1:NM_014246:exon1:c.C1991G:p.S664W
22 46931793 2 CELSR1 G C exonic synonymous SNV CELSR1:NM_014246:exon1:c.C1275G:p.L425L
22 46931838 2 CELSR1 G A exonic synonymous SNV CELSR1:NM_014246:exon1:c.C1230T:p.S410S RS1009155 LDL cholesterol:Microalbuminuria:Diastolic blood pressure (DBP)
22 47058992 2 GRAMD4 T C exonic synonymous SNV GRAMD4:NM_015124:exon6:c.T522C:p.F174F
22 50277835 2 ZBED4 T C exonic synonymous SNV ZBED4:NM_014838:exon2:c.T525C:p.S175S RS910796 Fasting insulin
22 50277883 2 ZBED4 A G exonic synonymous SNV ZBED4:NM_014838:exon2:c.A573G:p.P191P
22 50278438 2 ZBED4 A G exonic synonymous SNV ZBED4:NM_014838:exon2:c.A1128G:p.P376P RS910798 Fasting insulin:HOMA-IR:Gene expression of CRELD2 in peripheral blood monocytes
22 50278568 2 ZBED4 A G exonic nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V RS910799 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Chronic kidney disease:Rheumatoid arthritis:Gene expression of CRELD2 in CD4+ lymphocytes:Gene expression of CRELD2 in blood:Variant Creutzfeldt-Jakob disease:Tetrology of fallot
22 50278642 2 ZBED4 C T exonic synonymous SNV ZBED4:NM_014838:exon2:c.C1332T:p.G444G RS910800 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney disease
22 50280136 2 ZBED4 T C exonic synonymous SNV ZBED4:NM_014838:exon2:c.T2826C:p.A942A RS5770755 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney disease
22 50356693 2 PIM3 T C exonic nonsynonymous SNV PIM3:NM_001001852:exon6:c.T899C:p.V300A RS4077129 PROP taste detection threshold
22 50657010 2 TUBGCP6 C G exonic nonsynonymous SNV TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L
22 50719251 2 PLXNB2 A G exonic synonymous SNV PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P
22 50720622 2 PLXNB2 C T exonic synonymous SNV PLXNB2:NM_012401:exon19:c.G3108A:p.Q1036Q
22 50877166 2 PPP6R2 G C exonic synonymous SNV PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351644:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351646:exon18:c.G2019C:p.A673A,PPP6R2:NM_001351648:exon18:c.G1536C:p.A512A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351641:exon19:c.G2106C:p.A702A,PPP6R2:NM_001351642:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351645:exon19:c.G2022C:p.A674A,PPP6R2:NM_001351647:exon19:c.G1617C:p.A539A,PPP6R2:NM_001351643:exon20:c.G2103C:p.A701A
22 50941985 2 LMF2 T C exonic synonymous SNV LMF2:NM_033200:exon14:c.A1959G:p.Q653Q
22 50944163 2 LMF2 G A exonic synonymous SNV LMF2:NM_033200:exon6:c.C856T:p.L286L RS128941 Parkinson's disease (PD):Stabilized warfarin dose:Chronic kidney disease:Gene expression of NCAPH2///SCO2 in blood:Gene expression of TYMP in blood:Gene expression of TMEM112B in blood:Gene expression of SCO2///TYMP in blood:Gene expression of KREMEN2 in blood:Mean corpuscular volume (MCV)
22 50962208 2 SCO2 T G exonic synonymous SNV SCO2:NM_001169109:exon2:c.A633C:p.A211A,SCO2:NM_001169110:exon2:c.A633C:p.A211A,SCO2:NM_001169111:exon2:c.A633C:p.A211A,SCO2:NM_005138:exon2:c.A633C:p.A211A RS12148 Triglycerides:Mean corpuscular volume (MCV):Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene expression change of TYMP (ENSG00000025708) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SCO2 in normal prepouch ileum:Gene expression of TYMP (ENSG00000025708) in dendritic cells:Salmonella-induced pyroptosis:Mean corpuscular hemoglobin concentration (MCHC):Mean corpuscular volume (MCV):Red blood cell count (RBC)
22 50962782 2 SCO2 C G exonic nonsynonymous SNV SCO2:NM_001169109:exon2:c.G59C:p.R20P,SCO2:NM_001169110:exon2:c.G59C:p.R20P,SCO2:NM_001169111:exon2:c.G59C:p.R20P,SCO2:NM_005138:exon2:c.G59C:p.R20P RS140523 Triglycerides:Mean corpuscular volume (MCV):Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene expression of SCO2 in normal prepouch ileum:Mean corpuscular volume (MCV):Mean corpuscular hemoglobin concentration (MCHC)
22 50964862 2 TYMP G A exonic synonymous SNV TYMP:NM_001113756:exon7:c.C972T:p.A324A,TYMP:NM_001113755:exon8:c.C972T:p.A324A,TYMP:NM_001257988:exon8:c.C972T:p.A324A,TYMP:NM_001257989:exon8:c.C972T:p.A324A,TYMP:NM_001953:exon8:c.C972T:p.A324A
22 51064039 2 ARSA G C exonic nonsynonymous SNV ARSA:NM_000487:exon7:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S RS743616 LDL cholesterol:Systolic blood pressure (SBP)