Chr Loc Genotype Gene Ref Alt Type Class Protein RS Phenotype
1 877831 2 SAMD11 T C exonic nonsynonymous SNV SAMD11:NM_152486:exon10:c.T1027C:p.W343R
1 887801 2 NOC2L A G exonic synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T
1 888639 2 NOC2L T C exonic synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E
1 888659 2 NOC2L T C exonic nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V RS3748597 Microalbuminuria:Gene expression of KLHL17 [transcript NM_198317, probe A_32_P359110] in liver:Gene expression of NOC2L [transcript NM_015658, probe A_23_P138058] in liver
1 897325 2 KLHL17 G C exonic synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A
1 935222 2 HES4 C A exonic nonsynonymous SNV HES4:NM_001142467:exon1:c.G132T:p.R44S
1 949654 2 ISG15 A G exonic synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V
1 981931 2 AGRN A G exonic synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S
1 982994 2 AGRN T C exonic synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F
1 984302 2 AGRN T C exonic synonymous SNV AGRN:NM_198576:exon24:c.T4161C:p.T1387T
1 990280 2 AGRN C T exonic synonymous SNV AGRN:NM_198576:exon36:c.C6057T:p.D2019D
1 1158631 2 SDF4 A G exonic synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D RS6603781 Simpson-Angus Scale:Serum creatinine:Urinary albumin-to-creatinine ratio:PROP taste detection threshold
1 1254841 2 INTS11 C G exonic synonymous SNV INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G RS10907179 Comorbid depressive syndrome and alcohol dependence
1 1262966 2 CPTP C T exonic synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R
1 1374834 2 VWA1 A G exonic synonymous SNV VWA1:NM_022834:exon3:c.A1005G:p.P335P
1 1431165 1 ATAD3B C T exonic nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1777T:p.P593S,ATAD3B:NM_031921:exon16:c.C1915T:p.P639S
1 1647814 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A429G:p.E143E,CDK11A:NM_001313982:exon5:c.A429G:p.E143E,CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_001291345:exon6:c.A429G:p.E143E,CDK11B:NM_001787:exon6:c.A459G:p.E153E,CDK11B:NM_033486:exon6:c.A459G:p.E153E,CDK11B:NM_033489:exon7:c.A357G:p.E119E RS72901775 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1647871 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A372G:p.R124R,CDK11A:NM_001313982:exon5:c.A372G:p.R124R,CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_001291345:exon6:c.A372G:p.R124R,CDK11B:NM_001787:exon6:c.A402G:p.R134R,CDK11B:NM_033486:exon6:c.A402G:p.R134R,CDK11B:NM_033489:exon7:c.A300G:p.R100R RS72909014 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650801 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11B:NM_001291345:exon4:c.A321G:p.E107E,CDK11A:NM_001313896:exon4:c.A321G:p.E107E,CDK11A:NM_001313982:exon4:c.A321G:p.E107E,CDK11B:NM_001787:exon4:c.A321G:p.E107E,CDK11A:NM_024011:exon4:c.A321G:p.E107E,CDK11B:NM_033486:exon4:c.A321G:p.E107E,CDK11A:NM_033529:exon4:c.A321G:p.E107E,CDK11B:NM_033489:exon5:c.A219G:p.E73E RS1137004 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650807 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11B:NM_001291345:exon4:c.A315G:p.R105R,CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R RS1137005 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650832 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.T290C:p.V97A,CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A RS72909030 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650845 1 CDK11A;CDK11B G A exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.C277T:p.R93W,CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11B:NM_001787:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033489:exon5:c.C175T:p.R59W RS1059831 Gene expression of MIB2 [transcript NM_080875, probe A_24_P259328] in liver
1 1653046 1 CDK11A;CDK11B T A exonic synonymous SNV CDK11B:NM_001291345:exon3:c.A216T:p.S72S,CDK11A:NM_001313896:exon3:c.A216T:p.S72S,CDK11A:NM_001313982:exon3:c.A216T:p.S72S,CDK11B:NM_001787:exon3:c.A216T:p.S72S,CDK11A:NM_024011:exon3:c.A216T:p.S72S,CDK11B:NM_033486:exon3:c.A216T:p.S72S,CDK11A:NM_033529:exon3:c.A216T:p.S72S,CDK11B:NM_033489:exon4:c.A114T:p.S38S
1 1653093 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon3:c.T169C:p.C57R,CDK11A:NM_001313896:exon3:c.T169C:p.C57R,CDK11A:NM_001313982:exon3:c.T169C:p.C57R,CDK11B:NM_001787:exon3:c.T169C:p.C57R,CDK11A:NM_024011:exon3:c.T169C:p.C57R,CDK11B:NM_033486:exon3:c.T169C:p.C57R,CDK11A:NM_033529:exon3:c.T169C:p.C57R,CDK11B:NM_033489:exon4:c.T67C:p.C23R
1 1849529 2 TMEM52 A G exonic nonsynonymous SNV TMEM52:NM_178545:exon5:c.T422C:p.M141T
1 2126139 2 FAAP20 C G exonic nonsynonymous SNV FAAP20:NM_001256945:exon1:c.G50C:p.R17P,FAAP20:NM_001256946:exon1:c.G50C:p.R17P,FAAP20:NM_001256947:exon1:c.G50C:p.R17P,FAAP20:NM_001282673:exon1:c.G50C:p.R17P,FAAP20:NM_182533:exon1:c.G50C:p.R17P
1 2444414 1 PANK4 G A exonic nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V RS7535528 Spine bone mineral density (BMD):Fasting insulin:HOMA-IR:HOMA-B:Serum creatinine:Body mass index (BMI):Gene expression of PLCH2 in blood:Gene expression of TNFRSF14 in blood:Gene expression of C1orf93 in blood:Gene expression of PANK4 (ENSG00000157881) in dendritic cells treated with Mycobacterium tuberculosis:Birth weight
1 2452569 2 PANK4 T C exonic synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K RS2985862 HDL cholesterol:LDL cholesterol:Gene expression of PANK4 [probe 218771_at] in prefrontal cortex:Gene expression of MMEL1 in peripheral blood monocytes:Body mass index (BMI):Serum ratio of (1-oleoylglycerol (1-monoolein))/(1-palmitoleoylglycerophosphocholine*):Transmission distortion:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 2856155 2
1 3389727 1 ARHGEF16 C T exonic nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y RS2185639 Triglycerides:HDL cholesterol:Parkinson's disease
1 3394456 2 ARHGEF16 T C exonic synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S
1 3395039 1 ARHGEF16 G A exonic synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V RS10797395 HDL cholesterol:Triglycerides:Parkinson's disease
1 3428160 2 MEGF6 T G exonic synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T
1 3548136 2 WRAP73 T C exonic synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A RS2760321 Serum ratio of (1-stearoylglycerophosphocholine)/(2-tetradecenoyl carnitine)
1 3807593 2 C1orf174 G C exonic nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R RS4274008 Birth weight
1 6313938 2 GPR153 C T exonic nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H
1 6314822 2 GPR153 T C exonic synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T RS11590458 Gene expression of GPR153 (ENSG00000158292) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels
1 6614391 2 NOL9 A C exonic nonsynonymous SNV NOL9:NM_024654:exon1:c.T172G:p.S58A
1 6614415 2 NOL9 A G exonic nonsynonymous SNV NOL9:NM_024654:exon1:c.T148C:p.W50R
1 6704635 2 DNAJC11 A G exonic synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G RS200458 Triglycerides:Cystatin C in serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar disorder:Hypertension (early onset hypertension):Adiponectin levels
1 7887493 2 PER3 T C exonic nonsynonymous SNV PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P
1 8421203 2 RERE T C exonic synonymous SNV RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P RS13596 Gene expression of SLC45A1 (ENSG00000162426) in dendritic cells treated with Mycobacterium tuberculosis
1 8425900 1 RERE T C exonic synonymous SNV RERE:NM_001042681:exon13:c.A1419G:p.T473T,RERE:NM_012102:exon14:c.A1419G:p.T473T RS3753275 Total cholesterol:LDL cholesterol:Triglycerides change with statins:LDL cholesterol:Years of education:College completion
1 9670834 2 TMEM201 C T exonic nonsynonymous SNV TMEM201:NM_001130924:exon9:c.C1736T:p.P579L RS4926472 LDL cholesterol:HDL cholesterol change with statins
1 9859098 2
1 10511589 2 CENPS-CORT;CORT T C exonic synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S RS666103 2 hour glucose:Urinary albumin-to-creatinine ratio:Birth weight
1 10689924 1 PEX14 C T exonic synonymous SNV PEX14:NM_004565:exon9:c.C1014T:p.D338D
1 10713765 1 CASZ1 T C exonic synonymous SNV CASZ1:NM_001079843:exon11:c.A2349G:p.S783S,CASZ1:NM_017766:exon11:c.A2349G:p.S783S
1 11087524 2 MASP2 G A exonic synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S RS1782455 Serum creatinine:Height:Microalbuminuria:Obesity with early age of onset (age >2)
1 11119899 2 SRM T C exonic synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S
1 11728894 1 FBXO6 G A exonic nonsynonymous SNV FBXO6:NM_018438:exon2:c.G179A:p.R60Q
1 11849447 2 C1orf167 A G exonic nonsynonymous SNV C1orf167:NM_001010881:exon21:c.A4294G:p.R1432G
1 11854457 2 MTHFR G A exonic synonymous SNV MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F RS4846051 Cystatin C in serum:Serum creatinine
1 12009955 1 PLOD1 C T exonic synonymous SNV PLOD1:NM_000302:exon3:c.C294T:p.F98F,PLOD1:NM_001316320:exon4:c.C435T:p.F145F RS7529452 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 12024235 1 PLOD1 C T exonic synonymous SNV PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N RS1130529 Cystatin C in serum:Aortic valve calcium
1 12082926 2 MIIP A G exonic nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E RS2295283 Differential exon level expression of MFN2 [probe 2320645] in peripheral blood mononuclear cells:Simpson-Angus Scale:Gene expression of PLOD1 in peripheral blood monocytes:Gene expression of MFN2 in peripheral blood monocytes:Gene expression of MIIP [transcript NM_021933, probe A_23_P114649] in liver:Gene expression of MFN2 in blood:Gene expression of PLOD1 in blood:Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(arabinose):Serum ratio of (laurate (12:0))/(xanthine):Gene expression of MFN2 [probeset 216205_s_at] in sputum:Gene expression of MFN2 [probeset 201155_s_at] in sputum:Bipolar disorder:Migraine
1 12401868 2 VPS13D A C exonic synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P RS28551666 Serum ratio of (1-methylurate)/(HWESASXX*):Diabetic retinopathy in Type 2 diabetes mellitus
1 14105298 1 PRDM2 G A exonic synonymous SNV PRDM2:NM_001007257:exon3:c.G405A:p.E135E,PRDM2:NM_012231:exon8:c.G1008A:p.E336E,PRDM2:NM_015866:exon8:c.G1008A:p.E336E RS1203678 Triglycerides:HDL cholesterol:Fasting blood glucose:LDL cholesterol change with statins:HDL cholesterol:Serum ratio of (caproate (6:0))/(dihomo-linolenate (20:3n3 or n6))
1 14109114 1 PRDM2 A G exonic synonymous SNV PRDM2:NM_001007257:exon3:c.A4221G:p.S1407S,PRDM2:NM_012231:exon8:c.A4824G:p.S1608S,PRDM2:NM_015866:exon8:c.A4824G:p.S1608S RS1203651 Bipolar disorder, gender differentiated:Triglycerides:HDL cholesterol:Fasting blood glucose:LDL cholesterol change with statins:HDL cholesterol:Asthma:Serum ratio of (1-palmitoylglycerophosphoinositol*)/(dihomo-linolenate (20:3n3 or n6)):Serum concentration of glycerol 2-phosphate:Sporadic Creutzfeldt-Jakob disease:Resistance to kuru in aged women despite likely exposure
1 15541607 1 TMEM51 T C exonic synonymous SNV TMEM51:NM_001136217:exon2:c.T24C:p.N8N,TMEM51:NM_018022:exon2:c.T24C:p.N8N,TMEM51:NM_001136216:exon3:c.T24C:p.N8N,TMEM51:NM_001136218:exon3:c.T24C:p.N8N,TMEM51:NM_001319665:exon3:c.T24C:p.N8N RS3820065 HDL cholesterol:Total cholesterol
1 15911349 1 AGMAT G A exonic synonymous SNV AGMAT:NM_024758:exon1:c.C114T:p.D38D
1 16096934 2 FBLIM1 C T exonic nonsynonymous SNV FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F RS10927851 LDL cholesterol
1 16344360 2 HSPB7 A G exonic synonymous SNV HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A RS732286 HDL cholesterol:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of CLCNKA (probeID ILMN_2364072) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CLCNKA (probeID ILMN_2364072) in cerebellum in Alzheimer's disease cases and controls
1 16386008 2 FAM131C T C exonic synonymous SNV FAM131C:NM_182623:exon6:c.A543G:p.Q181Q
1 16890606 1 NBPF1 C T exonic unknown UNKNOWN
1 16890644 1 NBPF1 C T exonic unknown UNKNOWN
1 16902823 1 NBPF1 G C exonic unknown UNKNOWN
1 16902884 1 NBPF1 T C exonic unknown UNKNOWN
1 16907328 1 NBPF1 G T exonic unknown UNKNOWN
1 16918502 1 NBPF1 A G exonic unknown UNKNOWN
1 17263319 1 CROCC G T exonic nonsynonymous SNV CROCC:NM_014675:exon9:c.G1144T:p.A382S
1 17263321 1 CROCC G C exonic synonymous SNV CROCC:NM_014675:exon9:c.G1146C:p.A382A
1 17264200 2 CROCC A G exonic nonsynonymous SNV CROCC:NM_014675:exon10:c.A1258G:p.N420D
1 17265511 2 CROCC C T exonic synonymous SNV CROCC:NM_014675:exon12:c.C1482T:p.S494S
1 17265532 2 CROCC C G exonic synonymous SNV CROCC:NM_014675:exon12:c.C1503G:p.P501P
1 17274968 1 CROCC T C exonic nonsynonymous SNV CROCC:NM_014675:exon18:c.T2657C:p.V886A
1 17275337 1 CROCC C T exonic nonsynonymous SNV CROCC:NM_014675:exon19:c.C2752T:p.R918W
1 17277485 2 CROCC A G exonic synonymous SNV CROCC:NM_014675:exon20:c.A2874G:p.T958T
1 17295679 2 CROCC T C exonic synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A
1 17380497 2 SDHB G T exonic synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A
1 17991052 2 ARHGEF10L T C exonic nonsynonymous SNV ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R
1 19411129 2 UBR4 A G exonic synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H RS1043905 Body mass index (BMI)
1 19413261 2 UBR4 T A exonic nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L RS12584 Body mass index (BMI)
1 19415304 2 UBR4 C T exonic synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K RS1043899 Serum ratio of (1-stearoylglycerophosphocholine)/(dodecanedioate)
1 19433449 2 UBR4 A G exonic synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V RS6426677 Body mass index (BMI)
1 19447843 2 UBR4 C G exonic synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L RS1044010 Body mass index (BMI)
1 20987873 2 DDOST G C exonic nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G
1 21167404 2 EIF4G3 A G exonic synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L RS7553394 PROP taste detection threshold
1 21809876 1 NBPF3 C G exonic nonsynonymous SNV NBPF3:NM_001256417:exon14:c.C1689G:p.H563Q,NBPF3:NM_001256416:exon15:c.C1863G:p.H621Q,NBPF3:NM_032264:exon15:c.C1899G:p.H633Q,NBPF3:NM_001330381:exon19:c.C1731G:p.H577Q
1 22109370 1 USP48 G A exonic synonymous SNV USP48:NM_001032730:exon1:c.C81T:p.H27H,USP48:NM_001330394:exon1:c.C81T:p.H27H,USP48:NM_001350164:exon1:c.C81T:p.H27H,USP48:NM_001350166:exon1:c.C81T:p.H27H,USP48:NM_001350167:exon1:c.C81T:p.H27H,USP48:NM_001350168:exon1:c.C81T:p.H27H,USP48:NM_032236:exon1:c.C81T:p.H27H RS10917042 Urinary albumin-to-creatinine ratio:Microalbuminuria:Birth weight:Prostate cancer:Transmission distortion
1 22191454 1 HSPG2 G A exonic nonsynonymous SNV HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V RS897471 Triglycerides:Microalbuminuria:Infant head circumference:Gene expression of HSPG2 (ENSG00000142798) in dendritic cells treated with Mycobacterium tuberculosis
1 22206649 2 HSPG2 T C exonic nonsynonymous SNV HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S RS989994 Cystatin C in serum
1 22206942 2 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A
1 22207235 2 HSPG2 T C exonic nonsynonymous SNV HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V
1 22217108 2 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F
1 22846709 2 ZBTB40 G A exonic nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M
1 22852715 1 ZBTB40 G C exonic synonymous SNV ZBTB40:NM_001330398:exon16:c.G3210C:p.P1070P,ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P
1 23688933 2 ZNF436 A G exonic synonymous SNV ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N RS2849028 Serum creatinine:Chronic kidney disease:HDL cholesterol:Height:Waist hip ratio:Aortic valve calcium:Gene expression of TCEA3 (probeID ILMN_1726928) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of TCEA3 (probeID ILMN_1726928) in temporal cortex in Alzheimer's disease cases and controls
1 23885498 2 ID3 T C exonic nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A RS11574 Height:Body mass index (BMI):Gene expression of ASAP3 (ENSG00000088280) in dendritic cells treated with Mycobacterium tuberculosis:Aortic valve calcium:Gene expression change of ASAP3 (ENSG00000088280) in dendritic cells after treatment with Mycobacterium tuberculosis
1 24416059 2 MYOM3 T C exonic nonsynonymous SNV MYOM3:NM_152372:exon14:c.A1583G:p.D528G
1 24448084 1 IL22RA1 G A exonic synonymous SNV IL22RA1:NM_021258:exon7:c.C936T:p.P312P
1 24859617 2 RCAN3 G A exonic synonymous SNV RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P
1 24859665 2 RCAN3 G A exonic synonymous SNV RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P
1 24861704 2 RCAN3 G A exonic nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q RS196432 Celiac disease:Partial epilepsy:Gene expression of GRHL3 [transcript NM_021180, probe A_23_P52067] in liver:Gene expression of RCAN3 [transcript NM_013441, probe A_23_P391275] in liver
1 25889632 1 LDLRAP1 T C exonic nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P RS6687605 Rheumatoid arthritis:HDL cholesterol:LDL cholesterol:Gene expression of LDLRAP1 in blood:Age at death with kuru exposure:Nonsyndromic striae distensae (stretch marks)
1 25890189 1 LDLRAP1 A G exonic synonymous SNV LDLRAP1:NM_015627:exon7:c.A654G:p.T218T RS28969504 Nonsyndromic striae distensae (stretch marks)
1 26131654 2 SELENON G A exonic unknown UNKNOWN
1 26138262 2 SELENON T C exonic unknown UNKNOWN
1 26140573 2 SELENON C A exonic unknown UNKNOWN RS2294228 Advanced age-related macular degeneration (geographic atrophy):Gene expression change of SEPN1 (ENSG00000162430) in dendritic cells after treatment with Mycobacterium tuberculosis
1 26582091 1 CEP85 G A exonic nonsynonymous SNV CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N RS3795686 Hip bone mineral density (BMD):LDL cholesterol change with statins:Rheumatoid arthritis:Gene expression of ZNF683 in blood:Gene expression of UBXN11 in blood:Gene expression of ZNF593 in blood:Gene expression of CNKSR1///CATSPER4 in blood:Gene expression of AIM1L in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression of GRRP1 (probeID ILMN_2116299) in temporal cortex in Alzheimer's disease cases and controls:Endometriosis:Gene expression change of CCDC21 (ENSG00000130695) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of GRRP1 (probeID ILMN_2116299) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Breast cancer
1 26609259 1 UBXN11 C T exonic synonymous SNV UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T RS7522905 Gene expression of CD52 [probe 204661_at] in lymphoblastoid cell lines:Triglycerides:Methylation levels at chr1:26478506-26478556 [hg18 coord, probe cg01414934] in Cerebellum:Triglycerides:Height:Diabetic retinopathy in Type 2 diabetes mellitus
1 26610891 1 UBXN11 A C exonic nonsynonymous SNV UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R RS4332350 Cystatin C in serum:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight
1 26627478 1 UBXN11 T C exonic synonymous SNV UBXN11:NM_001077262:exon4:c.A138G:p.S46S,UBXN11:NM_183008:exon5:c.A138G:p.S46S RS2276712 Gene expression of CD52 [probe 204661_at] in lymphoblastoid cell lines:Methylation levels at chr1:26478506-26478556 [hg18 coord, probe cg01414934] in Cerebellum:Microalbuminuria:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight:Decrease in FEV1 (in asthmatic participants >=30 years old)
1 27210721 2 GPN2 T C exonic nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G RS3170660 HDL cholesterol:Triglycerides:LDL cholesterol
1 27320356 2 TRNP1 T C exonic nonsynonymous SNV TRNP1:NM_001013642:exon1:c.T79C:p.W27R
1 27875824 2 AHDC1 C T exonic nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T RS4908364 Cystatin C in serum
1 27876482 2 AHDC1 C A exonic synonymous SNV AHDC1:NM_001029882:exon6:c.G2145T:p.P715P RS2076457 Triglycerides:Premature ovarian failure:Waist hip ratio:PROP taste detection threshold
1 30872602 2
1 31347320 1 SDC3 G A exonic nonsynonymous SNV SDC3:NM_014654:exon4:c.C986T:p.T329I RS2282440 Adiponectin levels
1 32148571 2 COL16A1 A G exonic synonymous SNV COL16A1:NM_001856:exon37:c.T2502C:p.P834P
1 33065947 2 ZBTB8A G C exonic nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A
1 33133968 2 RBBP4 T C exonic synonymous SNV RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V
1 33957152 2 ZSCAN20 T G exonic nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D
1 33960062 2 ZSCAN20 A G exonic synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A RS9943259 HDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):Triglycerides change with statins:Lp-PLA2 mass:Serum ratio of (gamma-tocopherol)/(indolelactate):Infant head circumference:Paternal transmission distortion
1 35562965 2 ZMYM1 G A exonic nonsynonymous SNV ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M RS2971408 Barnes Akathisia Rating Scale:Triglycerides:Diastolic blood pressure (DBP):Refractive error
1 36316571 1 AGO4 A C exonic synonymous SNV AGO4:NM_017629:exon17:c.A2394C:p.S798S RS4652895 Barnes Akathisia Rating Scale:Major depressive disorder:Lp-PLA2 mass:Rheumatoid arthritis:LDL cholesterol:Waist hip ratio:Body mass index (BMI):Years of education
1 36359669 1 AGO1 A G exonic synonymous SNV AGO1:NM_001317123:exon6:c.A456G:p.P152P,AGO1:NM_012199:exon6:c.A681G:p.P227P RS2296470 Comorbid depressive syndrome and alcohol dependence
1 36642420 2 MAP7D1 T C exonic synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S
1 36752433 2 THRAP3 C T exonic nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V RS6425977 Spine bone mineral density (BMD):HDL cholesterol change with statins:Waist hip ratio:Gene expression of MAP7D1 in blood:Serum concentration of creatine:Diabetic retinopathy in Type 2 diabetes mellitus
1 38463504 1 FHL3 C T exonic synonymous SNV FHL3:NM_001243878:exon4:c.G216A:p.P72P,FHL3:NM_004468:exon5:c.G540A:p.P180P
1 39748921 2 MACF1 G A exonic synonymous SNV MACF1:NM_012090:exon7:c.G771A:p.Q257Q RS2275188 HOMA-IR:HDL cholesterol:Triglycerides
1 40349131 1 TRIT1 G A exonic synonymous SNV TRIT1:NM_001312691:exon1:c.C33T:p.P11P,TRIT1:NM_001312692:exon1:c.C33T:p.P11P,TRIT1:NM_017646:exon1:c.C33T:p.P11P
1 40533266 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G
1 40533287 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G
1 40533315 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T734G:p.I245S,CAP1:NM_001330502:exon8:c.T731G:p.I244S,CAP1:NM_001350476:exon8:c.T734G:p.I245S,CAP1:NM_001350477:exon8:c.T734G:p.I245S,CAP1:NM_001350479:exon8:c.T734G:p.I245S,CAP1:NM_001350480:exon8:c.T734G:p.I245S,CAP1:NM_001350481:exon8:c.T734G:p.I245S,CAP1:NM_001350482:exon8:c.T731G:p.I244S,CAP1:NM_001350483:exon8:c.T731G:p.I244S,CAP1:NM_001350485:exon8:c.T731G:p.I244S,CAP1:NM_006367:exon8:c.T734G:p.I245S,CAP1:NM_001350475:exon9:c.T734G:p.I245S,CAP1:NM_001350478:exon9:c.T734G:p.I245S,CAP1:NM_001350484:exon9:c.T731G:p.I244S
1 40533326 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D
1 40533347 2 CAP1 T G exonic nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A
1 40737589 1 ZMPSTE24 T C exonic synonymous SNV ZMPSTE24:NM_005857:exon6:c.T651C:p.D217D RS2076697 Rheumatoid arthritis:Longstanding arthritis:Gene expression of ZMPSTE24 in blood:Tetrology of fallot
1 40881041 2 SMAP2 C G exonic synonymous SNV SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S RS209606 Infant head circumference:Advanced age-related macular degeneration:Personality disorders (PD) - Cluster C
1 41204569 2 NFYC C T exonic synonymous SNV NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S RS1057925 HOMA-IR:Gene expression of NFYC in normal prepouch ileum
1 43212431 2 P3H1 A G exonic synonymous SNV P3H1:NM_022356:exon15:c.T2148C:p.G716G
1 44086831 1 PTPRF C T exonic synonymous SNV PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y
1 44415415 1 IPO13 C T exonic synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D
1 46073489 1 NASP G A exonic synonymous SNV NASP:NM_001195193:exon4:c.G714A:p.P238P,NASP:NM_002482:exon6:c.G906A:p.P302P RS2230657 Gene expression of AKR1A1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:Cystatin C in serum:HDL cholesterol:Height:Body mass index (BMI)
1 46493460 1 MAST2 T G exonic nonsynonymous SNV MAST2:NM_001319245:exon17:c.T1977G:p.I659M,MAST2:NM_001324321:exon17:c.T1515G:p.I505M,MAST2:NM_015112:exon17:c.T1977G:p.I659M,MAST2:NM_001324320:exon18:c.T1998G:p.I666M RS1707336 Gene expression of Hs.396207 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LOC126661 [probe 1559003_a_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at in lymphoblastoid cell lines:Gene expression of IPP [probe 219843_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Longstanding arthritis:Fasting blood glucose:Cystatin C in serum:Autism:HDL cholesterol:Height:Body mass index (BMI):Hypertension (early onset hypertension):Transmission distortion:Birth weight:Infant head circumference
1 46655158 2 POMGNT1 T C exonic nonsynonymous SNV POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V
1 46810530 1 NSUN4 A G exonic nonsynonymous SNV NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A RS3737744 Gene expression of NSUN4 [probe 226351_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Total cholesterol change with statins:Lp-PLA2 activity:Gene expression of NSUN4 in blood:Gene expression of NSUN4 [probeset 230023_at] in sputum:PROP taste detection threshold:Gene expression of NSUN4 in normal prepouch ileum:Transmission distortion:Maternal transmission distortion:Aortic valve calcium
1 46871986 2 FAAH T C exonic synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C RS324419 LDL cholesterol:Premature ovarian failure:Cystatin C in serum:Gene expression of NSUN4 in blood:Serum ratio of (cholesterol)/(cysteine-glutathione disulfide)
1 47078637 2 MOB3C T C exonic synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A
1 47133811 2 ATPAF1 T C exonic nonsynonymous SNV ATPAF1:NM_001042546:exon1:c.A253G:p.S85G,ATPAF1:NM_022745:exon1:c.A253G:p.S85G
1 47717189 1 STIL A G exonic synonymous SNV STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P,STIL:NM_001282936:exon18:c.T3483C:p.P1161P,STIL:NM_001282937:exon18:c.T3432C:p.P1144P,STIL:NM_001282938:exon19:c.T3345C:p.P1115P,STIL:NM_001282939:exon19:c.T3291C:p.P1097P RS2758735 Rheumatoid arthritis:Height
1 47799639 1 CMPK1 G C exonic nonsynonymous SNV CMPK1:NM_001136140:exon1:c.G22C:p.G8R,CMPK1:NM_016308:exon1:c.G22C:p.G8R
1 52991638 1 ZCCHC11 C T exonic synonymous SNV ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P
1 53250650 2 ZYG11B G A exonic synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G
1 53563589 2
1 53676448 2 CPT2 G A exonic nonsynonymous SNV CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I RS1799821 Hip bone mineral density (BMD):Gene expression of C1orf123 [probe 2413153] in peripheral blood mononuclear cells:Total cholesterol:Gene expression of CPT2 in peripheral blood monocytes:HDL cholesterol:Waist hip ratio:Gene expression of CPT2///C1orf123 in blood:Serum ratio of (bradykinin, des-arg(9))/(gamma-tocopherol):Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Years of education
1 53716416 2 LRP8 G A exonic synonymous SNV LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D RS3737983 Hip bone mineral density (BMD):Gene expression of C1orf123 [probe 2413153] in peripheral blood mononuclear cells:Serum creatinine:Asthma:Waist hip ratio:Gene expression of C1orf123 [probe ILMN_28661] in osteoblasts treated with PGE2:Gene expression of CPT2///C1orf123 in blood:Serum ratio of (bradykinin, des-arg(9))/(taurocholate):Gene expression of C1ORF123 in liver:Years of education
1 55182300 2 TTC4 T A exonic nonsynonymous SNV TTC4:NM_001291333:exon2:c.T139A:p.S47T,TTC4:NM_004623:exon2:c.T139A:p.S47T RS1147990 Waist hip ratio:Gene expression of PARS2 (ENSG00000162396) in dendritic cells
1 55638075 2 USP24 G A exonic nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I RS1165222 Schizophrenia:Differential exon level expression of USP24 [probe 2413969] in peripheral blood mononuclear cells:Differential exon level expression of USP24 [probe 2413969] in brain cortex:Abnormal Involuntary Movement Scale:Total cholesterol change with statins:Total cholesterol:LDL cholesterol:Primary rhegmatogenous retinal detachment
1 59125683 1 MYSM1 C T exonic nonsynonymous SNV MYSM1:NM_001085487:exon20:c.G2473A:p.E825K RS232777 Depression scale of the Revised NEO Personality Inventory:Height
1 59148118 1 MYSM1 A T exonic nonsynonymous SNV MYSM1:NM_001085487:exon8:c.T598A:p.C200S RS17118103 Height
1 61554084 1 NFIA G A exonic synonymous SNV NFIA:NM_001134673:exon2:c.G291A:p.G97G,NFIA:NM_001145511:exon2:c.G267A:p.G89G,NFIA:NM_005595:exon2:c.G291A:p.G97G,NFIA:NM_001145512:exon3:c.G426A:p.G142G
1 62232031 2 PATJ C T exonic synonymous SNV PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I
1 62330080 2 PATJ T G exonic nonsynonymous SNV PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M
1 62380270 2 PATJ C T exonic synonymous SNV PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N
1 62713224 2 KANK4 C G exonic nonsynonymous SNV KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L RS2941679 Nicotine initiation (smoking):Mitral annular calcium
1 62740446 2 KANK4 T C exonic synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P RS2666506 Triglycerides:Methylation levels at chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal cortex:Triglycerides:Total cholesterol:LDL cholesterol:Adiponectin levels:Infant head circumference
1 62740449 2 KANK4 T C exonic synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S RS2666507 Triglycerides:Methylation levels at chr2:220145681-220145731 [hg18 coord, probe cg25928444] in Temporal cortex:Triglycerides:Total cholesterol:Infant head circumference:Adiponectin levels
1 63997633 1 EFCAB7 A T exonic synonymous SNV EFCAB7:NM_032437:exon3:c.A330T:p.S110S RS9804078 HDL cholesterol
1 63999826 1 EFCAB7 C T exonic nonsynonymous SNV EFCAB7:NM_032437:exon6:c.C743T:p.T248I RS6693255 Longstanding arthritis:Gene expression of ITGB3BP in blood:Gene expression of PGM1 in blood:Variant Creutzfeldt-Jakob disease
1 64624842 2 ROR1 A G exonic synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V
1 65867519 2 DNAJC6 G A exonic nonsynonymous SNV DNAJC6:NM_001256864:exon15:c.G2183A:p.S728N,DNAJC6:NM_014787:exon15:c.G2012A:p.S671N,DNAJC6:NM_001256865:exon16:c.G1973A:p.S658N RS4915691 Serum ratio of (3-methylxanthine)/(theobromine):Comorbid depressive syndrome and alcohol dependence
1 67390416 2 WDR78 G C exonic nonsynonymous SNV WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W RS3008858 Cystatin C in serum:Height:Microalbuminuria:Birth weight:College completion:Obesity with early age of onset (age >2)
1 67390468 2 WDR78 C G exonic nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A RS1886686 Cystatin C in serum:Height:Microalbuminuria:College completion:Obesity with early age of onset (age >2):Birth weight
1 75681511 2 SLC44A5 T C exonic synonymous SNV SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q RS595009 Triglycerides:Total cholesterol:LDL cholesterol
1 75716925 2 SLC44A5 C T exonic synonymous SNV SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V RS588098 Tardive dyskinesia:Asthma:Height:Mitral annular calcium
1 78211121 1 USP33 C T exonic synonymous SNV USP33:NM_015017:exon2:c.G27A:p.T9T,USP33:NM_201626:exon2:c.G27A:p.T9T
1 78392446 2 NEXN G A exonic nonsynonymous SNV NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R RS1166698 Gene expression of NEXN [probe 226103_at] in lymphoblastoid cell lines:Gene expression of NEXN [probe 1552309_a_at] in lymphoblastoid cell lines:Rheumatoid arthritis:LDL cholesterol:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Bipolar disorder
1 82421596 2 ADGRL2 C T exonic synonymous SNV ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P
1 84944989 2 RPF1 A G exonic nonsynonymous SNV RPF1:NM_025065:exon1:c.A25G:p.S9G RS2292191 Simpson-Angus Scale:Gene expression of SPATA1 in normal prepouch ileum
1 85113203 2 SSX2IP T C exonic synonymous SNV SSX2IP:NM_001166294:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166295:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166293:exon14:c.A1758G:p.A586A,SSX2IP:NM_001166417:exon15:c.A1758G:p.A586A,SSX2IP:NM_014021:exon15:c.A1758G:p.A586A RS2994949 Barnes Akathisia Rating Scale:Fasting blood glucose:Serum creatinine:Rheumatoid arthritis:Bipolar disorder in alcoholics:Serum ratio of (2-linoleoylglycerophosphoethanolamine*)/(gamma-glutamylisoleucine*):Parkinson's disease
1 85113229 1 SSX2IP A G exonic nonsynonymous SNV SSX2IP:NM_001166294:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166295:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166293:exon14:c.T1732C:p.C578R,SSX2IP:NM_001166417:exon15:c.T1732C:p.C578R,SSX2IP:NM_014021:exon15:c.T1732C:p.C578R RS1057746 HDL cholesterol:LDL cholesterol:Barnes Akathisia Rating Scale:Triglycerides:HDL cholesterol:Serum ratio of (arabinose)/(tetradecanedioate):Years of education:College completion
1 85624549 2 SYDE2 C T exonic nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I
1 85624864 2 SYDE2 G A exonic synonymous SNV SYDE2:NM_032184:exon7:c.C3154T:p.L1052L
1 85648620 2 SYDE2 C T exonic nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I
1 85733374 1 BCL10 C T exonic nonsynonymous SNV BCL10:NM_001320715:exon3:c.G605A:p.G202E,BCL10:NM_003921:exon3:c.G638A:p.G213E RS3768235 Chronic kidney disease
1 89322982 2 GTF2B G A exonic synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L
1 89522646 1 GBP1 G C exonic nonsynonymous SNV GBP1:NM_002053:exon7:c.C1046G:p.T349S
1 90486412 2 ZNF326 T G exonic synonymous SNV ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V RS2816881 HDL cholesterol
1 90493026 2 ZNF326 G A exonic synonymous SNV ZNF326:NM_181781:exon10:c.G897A:p.E299E,ZNF326:NM_001320185:exon12:c.G1248A:p.E416E,ZNF326:NM_182976:exon12:c.G1515A:p.E505E RS10922744 HDL cholesterol
1 92979354 2 EVI5 A G exonic synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G RS6603979 Total cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol:Height:Multiple sclerosis severity scale (median):Multiple sclerosis severity scale (continuous):Multiple sclerosis severity scale (extreme)
1 93089823 2 EVI5 T C exonic synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q RS7514716 Triglycerides change with statins:Total cholesterol:LDL cholesterol:Height:Systolic blood pressure (SBP):Years of education
1 93160902 2 EVI5 T C exonic nonsynonymous SNV EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V RS2391199 Arthritis including non-Rheumatoid:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Height:Systolic blood pressure (SBP):Years of education
1 93580581 2 MTF2 G C exonic nonsynonymous SNV MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S
1 93672723 2 CCDC18 A C exonic nonsynonymous SNV CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T RS2815413 HDL cholesterol:Tardive dyskinesia:HDL cholesterol change with statins:Triglycerides change with statins:HDL cholesterol:LDL cholesterol:Gene expression of TMED5 (ENSG00000117500) in dendritic cells:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2)
1 94342564 1 DNTTIP2 C A exonic nonsynonymous SNV DNTTIP2:NM_014597:exon2:c.G927T:p.E309D RS3747965 Allergic rhinitis:Atopy:Serum ratio of (1-palmitoylglycerophosphoinositol*)/(guanosine):Adiponectin levels:Years of education
1 94343023 1 DNTTIP2 A G exonic synonymous SNV DNTTIP2:NM_014597:exon2:c.T468C:p.P156P RS2391322 Serum ratio of (1-methylurate)/(DSGEGDFXAEGGGVR*):Birth weight
1 94639447 2 ARHGAP29 C T exonic nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D
1 95001600 2 F3 A C exonic synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P
1 95709821 2 RWDD3 T C exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A
1 95709939 2 RWDD3 T G exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K RS2296308 Rheumatoid arthritis:Gene expression of TTC25 in peripheral blood monocytes:Partial epilepsy:Neuroblastoma (brain cancer):Serum ratio of (ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early onset hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid
1 97272456 1 PTBP2 A G exonic synonymous SNV PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L RS6699932 Gene expression of PTBP2 in blood:Serum ratio of (ADpSGEGDFXAEGGGVR*)/(biliverdin):PROP taste detection threshold
1 99127392 2 SNX7 T C exonic synonymous SNV SNX7:NM_015976:exon1:c.T105C:p.S35S,SNX7:NM_152238:exon1:c.T105C:p.S35S
1 100203693 1 FRRS1 G A exonic synonymous SNV FRRS1:NM_001013660:exon7:c.C708T:p.S236S RS7514021 Asthma:Gene expression of FRRS1 in normal prepouch ileum:Years of education:College completion
1 100672060 2 DBT T C exonic nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G RS12021720 Arthritis including non-Rheumatoid:High-grade glioma:Partial epilepsy:Total cholesterol:Glioma:Serum ratio of (4-acetamidobutanoate)/(glycerate)
1 107417730 2
1 109745618 2 KIAA1324 T C exonic nonsynonymous SNV KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P RS1052878 Longstanding arthritis:HDL cholesterol:Chronic kidney disease:LDL cholesterol:HDL cholesterol:Total cholesterol:Gene expression of PSRC1 in blood:Gene expression of KIAA1324 in blood:Serum concentration of 1-stearoylglycerophosphocholine:College completion:Aortic valve calcium
1 109794252 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S RS454107 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD)
1 109795026 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y RS413380 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:LDL cholesterol:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 109795608 2 CELSR2 T C exonic synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F RS437444 LDL cholesterol:LDL cholesterol:Serum creatinine:HDL cholesterol:Total cholesterol:LDL cholesterol:Serum ratio of (2-hydroxyisobutyrate)/(hypoxanthine):Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 109816176 2 CELSR2 A C exonic synonymous SNV CELSR2:NM_001408:exon33:c.A8628C:p.G2876G
1 109838918 2 MYBPHL C T exonic nonsynonymous SNV MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N RS629001 HDL cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol:Lp-PLA2 activity:HDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Height:Parkinson's disease:LDL cholesterol:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Total cholesterol:Coronary artery disease (CAD)
1 109839433 2 MYBPHL A G exonic synonymous SNV MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T
1 110201699 2 GSTM4 T C exonic synonymous SNV GSTM4:NM_000850:exon7:c.T534C:p.F178F,GSTM4:NM_147148:exon7:c.T534C:p.F178F RS506008 Triglycerides:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium
1 110233138 2 GSTM1 G C exonic nonsynonymous SNV GSTM1:NM_000561:exon7:c.G519C:p.K173N
1 110279701 1 GSTM3 C T exonic nonsynonymous SNV GSTM3:NM_000849:exon9:c.G670A:p.V224I RS7483 Irritible bowel syndrome:Gene expression of GSTM3 in blood cells in Celiac disease:Differential exon level expression of GSTM3 [probe 2427214] in brain cortex:Differential exon level expression of GSTM5 [probe 2351027] in brain cortex:Differential exon level expression of GSTM5 [probe 2351017] in brain cortex:Differential exon level expression of GSTM5 [probe 2351025] in brain cortex:Differential exon level expression of GSTM5 [probe 2351018] in brain cortex:Gene expression of GSTM5 [probe 2351004] in brain cortex:Differential exon level expression of GSTM5 [probe 2351023] in brain cortex:HDL cholesterol change with statins:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe cg04987894] in Frontal cortex:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe cg04987894] in Temporal cortex:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe cg04987894] in Caudal pons:Methylation levels at chr1:110056089-110056139 [hg18 coord, probe cg04987894] in Cerebellum:Gene expression of GSTM5 in Temporal cortex:LDL cholesterol:Gene expression of GSTM3 in CD4+ lymphocytes:Gene expression of AC000032.7///GSTM2 in blood:Gene expression of GSTM3 in blood:Gene expression of GSTM1///AC000032.7///GSTM2 in blood:Serum ratio of (10-nonadecenoate (19:1n9))/(5-dodecenoate (12:1n7)):Sporadic Creutzfeldt-Jakob disease:Gene expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Alzheimer's disease cases:Gene expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum in non-Alzheimer's disease samples:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Alzheimer's disease cases:Gene expression of GSTM3 in normal prepouch ileum:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Progressive Supranuclear Palsy cases
1 110466709 2 CSF1 T C exonic nonsynonymous SNV CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S
1 112298829 1 DDX20 T C exonic synonymous SNV DDX20:NM_007204:exon1:c.T283C:p.L95L
1 112308953 1 DDX20 T C exonic nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T RS197412 Cystatin C in serum:Lp-PLA2 mass:Lp-PLA2 activity:Height:College completion:Years of education:Obesity with early age of onset (age >2)
1 112308972 1 DDX20 G A exonic synonymous SNV DDX20:NM_007204:exon11:c.G1926A:p.V642V RS197413 Cystatin C in serum:Height:College completion:Years of education:Obesity with early age of onset (age >2)
1 112991698 1 CTTNBP2NL T C exonic synonymous SNV CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N RS2256883 Gene expression of CTTNBP2NL [probe 226000_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Nicotine dependence (smoking):Serum ratio of (pantothenate)/(pyridoxate):Mitral annular calcium:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 113456546 2 SLC16A1 A T exonic nonsynonymous SNV SLC16A1:NM_001166496:exon5:c.T1470A:p.D490E,SLC16A1:NM_003051:exon5:c.T1470A:p.D490E RS1049434 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Serum ratio of (allantoin)/(hexadecanedioate):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Refractive error
1 113657092 2 LRIG2 A C exonic synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T RS1216793 Total cholesterol change with statins:Waist hip ratio
1 114505000 1 HIPK1 G A exonic synonymous SNV HIPK1:NM_181358:exon7:c.G861A:p.P287P,HIPK1:NM_198269:exon8:c.G921A:p.P307P,HIPK1:NM_152696:exon9:c.G2043A:p.P681P,HIPK1:NM_198268:exon9:c.G2043A:p.P681P RS17852555 PROP taste detection threshold
1 114515717 1 HIPK1 G A exonic synonymous SNV HIPK1:NM_181358:exon14:c.G2034A:p.A678A,HIPK1:NM_198269:exon15:c.G2094A:p.A698A,HIPK1:NM_198268:exon16:c.G3216A:p.A1072A RS2358996 Serum creatinine:Total cholesterol:LDL cholesterol:Gene expression of DCLRE1B (probeID ILMN_1655382) in temporal cortex in Alzheimer's disease cases and controls:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of DCLRE1B (probeID ILMN_1655382) in cerebellum in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus:Years of education
1 117529458 1 PTGFRN G A exonic nonsynonymous SNV PTGFRN:NM_020440:exon9:c.G2509A:p.V837I RS10801922 HOMA-B:Fasting blood glucose:Serum creatinine:Chronic kidney disease:Gene expression of IGSF2 in peripheral blood monocytes:Triglycerides:Nicotine dependence (smoking):Serum ratio of (2-methylbutyroylcarnitine)/(trigonelline (N'-methylnicotinate)):Paternal transmission distortion:Transmission distortion:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Sarcoidosis
1 118892888 2
1 120285546 1 PHGDH G A exonic synonymous SNV PHGDH:NM_006623:exon11:c.G1326A:p.T442T RS543703 PC ae C30:1 / lysoPC a C26:1:PC ae C30:1:Height:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 144618144 2 NBPF8;NBPF9 A G exonic unknown UNKNOWN
1 144828583 1 NBPF8;NBPF9 G A exonic unknown UNKNOWN
1 144879375 1 PDE4DIP T C exonic nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E
1 144912153 1 PDE4DIP A G exonic nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R RS1628172 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 144912233 1 PDE4DIP C T exonic nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H
1 145103928 2 SEC22B G A exonic unknown UNKNOWN
1 145103947 2 SEC22B T C exonic unknown UNKNOWN
1 145109549 2 SEC22B G T exonic unknown UNKNOWN
1 145109583 2 SEC22B C A exonic unknown UNKNOWN
1 145112414 2 SEC22B T C exonic unknown UNKNOWN
1 145112428 2 SEC22B C T exonic unknown UNKNOWN
1 145112485 2 SEC22B C T exonic unknown UNKNOWN
1 145115810 2 SEC22B A G exonic unknown UNKNOWN
1 145281543 1 NOTCH2NL C T exonic nonsynonymous SNV NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I
1 145281996 1 NOTCH2NL G C exonic nonsynonymous SNV NOTCH2NL:NM_203458:exon5:c.G676C:p.E226Q
1 145293469 1 NBPF10 G C exonic nonsynonymous SNV NBPF10:NM_001039703:exon1:c.G64C:p.E22Q,NBPF10:NM_001302371:exon1:c.G64C:p.E22Q
1 145299824 1 NBPF10 C G exonic nonsynonymous SNV NBPF10:NM_001039703:exon6:c.C873G:p.I291M,NBPF10:NM_001302371:exon6:c.C873G:p.I291M
1 145299833 1 NBPF10 A G exonic synonymous SNV NBPF10:NM_001039703:exon6:c.A882G:p.K294K,NBPF10:NM_001302371:exon6:c.A882G:p.K294K
1 145477257 1 LIX1L T C exonic synonymous SNV LIX1L:NM_153713:exon1:c.T99C:p.A33A
1 146672906 2 FMO5 C T exonic synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P RS894469 Differential exon level expression of CHD1L [probe 2356761] in peripheral blood mononuclear cells:Alzheimer's disease:Total cholesterol change with statins:Triglycerides:Height:Bipolar disorder:Hypertension (early onset hypertension)
1 146751782 2 CHD1L A C exonic synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I RS7547279 Advanced age-related macular degeneration (geographic atrophy)
1 146767149 2 CHD1L G T exonic nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S RS4950394 Height:Advanced age-related macular degeneration (geographic atrophy)
1 147121977 2 ACP6 C T exonic nonsynonymous SNV ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M RS6593795 Salmonella-induced pyroptosis
1 147124310 2 ACP6 T G exonic synonymous SNV ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R RS2153463 Gene expression of probe 242270_at in lymphoblastoid cell lines:Gene expression of ACP6 [probe 218795_at] in lymphoblastoid cell lines:Gene expression of ACP6 in Caudal pons:Gene expression of ACP6 in Temporal cortex:Gene expression of ACP6 in liver:Gene expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ACP6 (probeID ILMN_2234343) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of ACP6 in normal prepouch ileum:Salmonella-induced pyroptosis:Aortic valve calcium
1 150526044 1 ADAMTSL4 G C exonic nonsynonymous SNV ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P
1 150531050 2 ADAMTSL4 G A exonic synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P
1 150727539 1 CTSS G A exonic nonsynonymous SNV CTSS:NM_004079:exon4:c.C337T:p.R113W RS2230061 Serum creatinine:Neuroblastoma (brain cancer):Gene expression of ARNT in liver:Gene expression of HORMAD1 (ENSG00000143452) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of CTSS in normal prepouch ileum:Transmission distortion:Gene expression of HORMAD1 in normal prepouch ileum:Maternal transmission distortion
1 150771703 2 CTSK T C exonic synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A RS10788796 Triglycerides:Parkinson's disease
1 150808889 1 ARNT C G exonic synonymous SNV ARNT:NM_001197325:exon6:c.G522C:p.V174V,ARNT:NM_178427:exon6:c.G522C:p.V174V,ARNT:NM_001286036:exon7:c.G567C:p.V189V,ARNT:NM_001350225:exon7:c.G564C:p.V188V,ARNT:NM_001350226:exon7:c.G561C:p.V187V,ARNT:NM_001668:exon7:c.G567C:p.V189V,ARNT:NM_001286035:exon8:c.G540C:p.V180V,ARNT:NM_001350224:exon8:c.G540C:p.V180V RS2228099 Gene expression of CTSS in CEU-CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Serum creatinine:Body mass index (BMI):Gene expression of HORMAD1 in normal prepouch ileum:Obesity with early age of onset (age >2)
1 150970577 2 MINDY1 G T exonic nonsynonymous SNV MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K RS2925741 Cystatin C in serum
1 150975108 2 MINDY1 T C exonic nonsynonymous SNV MINDY1:NM_001163258:exon3:c.A130G:p.K44E
1 151239051 1 PSMD4 T C exonic synonymous SNV PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S RS7489 Rheumatoid arthritis:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of ZNF687 (ENSG00000143373) in dendritic cells
1 151288391 2 PI4KB A G exonic synonymous SNV PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D
1 151316161 2 RFX5 G A exonic synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L
1 151377407 1 POGZ A C exonic synonymous SNV POGZ:NM_145796:exon17:c.T3819G:p.T1273T,POGZ:NM_207171:exon17:c.T3945G:p.T1315T,POGZ:NM_001194938:exon18:c.T3918G:p.T1306T,POGZ:NM_001194937:exon19:c.T4077G:p.T1359T,POGZ:NM_015100:exon19:c.T4104G:p.T1368T RS1571294 Cystatin C in serum
1 151867560 2 THEM4 G A exonic synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D
1 151881885 2 THEM4 A C exonic nonsynonymous SNV THEM4:NM_053055:exon1:c.T50G:p.L17R
1 153909069 1 DENND4B G C exonic synonymous SNV DENND4B:NM_014856:exon16:c.C2388G:p.A796A
1 153941514 1 CREB3L4 C T exonic nonsynonymous SNV CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S RS11264743 Triglycerides:Fasting blood glucose:Triglycerides:HDL cholesterol:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Gene expression of CRTC2 [transcript NM_181715, probe A_23_P12178] in liver:Gene expression of CRTC2///SLC39A1 in blood:Gene expression of NUP210L in blood:Gene expression of TPM3 in blood:Gene expression of GATAD2B in blood:Serum concentration of urate:College completion:Hypertension (early onset hypertension):Amyotrophic lateral sclerosis (ALS):Primary rhegmatogenous retinal detachment:Years of education:Gene expression of SLC39A1 (probe ID ILMN_2116714) in whole blood in amyotrophic lateral sclerosis cases and controls
1 154317153 1 ATP8B2 C T exonic synonymous SNV ATP8B2:NM_020452:exon21:c.C2277T:p.S759S RS1194587 2 hour glucose:Urinary albumin-to-creatinine ratio
1 154561925 1 ADAR C T exonic synonymous SNV ADAR:NM_001025107:exon9:c.G1797A:p.V599V,ADAR:NM_001111:exon9:c.G2682A:p.V894V,ADAR:NM_001193495:exon9:c.G1797A:p.V599V,ADAR:NM_015840:exon9:c.G2604A:p.V868V,ADAR:NM_015841:exon9:c.G2547A:p.V849V RS1127309 Triglycerides:Gene expression of ADAR in normal prepouch ileum
1 154573967 1 ADAR T C exonic nonsynonymous SNV ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R RS2229857 Differential exon level expression of ADAR [probe 2436757] in brain cortex:Response to interferon beta therapy in multiple sclerosis patients:Response to interferon beta therapy in multiple sclerosis (responders vs nonresponders):Gene expression of ADAR in blood:Serum ratio of (inositol 1-phosphate (I1P))/(pantothenate):Serum ratio of (biliverdin)/(mannitol):Years of education:Gene expression of ADAR in normal prepouch ileum
1 154574820 2 ADAR T C exonic nonsynonymous SNV ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G
1 154575040 2 ADAR C T exonic synonymous SNV ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R
1 154987526 2 ZBTB7B C T exonic synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I RS11264295 Methylation levels at chr1:153273828-153273878 [hg18 coord, probe cg21596858] in Temporal cortex:Comorbid depressive syndrome and alcohol dependence
1 154988957 2 ZBTB7B A G exonic synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P
1 155026942 2 ADAM15 A C exonic nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T RS6427128 Irritible bowel syndrome:Arthritis including non-Rheumatoid:Schizophrenia:Differential exon level expression of ADAM15 [probe 2360588] in peripheral blood mononuclear cells:Differential exon level expression of ADAM15 [probe 2360588] in brain cortex:Alzheimer's disease:Serum creatinine:Triglycerides:HDL cholesterol:Gene expression of ADAM15 in blood:Serum ratio of (gamma-glutamylmethionine*)/(succinylcarnitine):Comorbid depressive syndrome and alcohol dependence:Gene expression of CKS1B (ENSG00000173207) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration:Gene expression change of PBXIP1 (ENSG00000163346) in dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of fallot:Gene expression of PBXIP1 (ENSG00000163346) in dendritic cells:Gene expression of EFNA1 (ENSG00000169242) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 155294274 2 RUSC1 A G exonic synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L
1 155408635 2 ASH1L T C exonic nonsynonymous SNV ASH1L:NM_018489:exon5:c.A5311G:p.T1771A
1 155837865 2 SYT11 G C exonic nonsynonymous SNV SYT11:NM_152280:exon2:c.G144C:p.Q48H RS822522 Tardive dyskinesia:Transmission distortion
1 155838267 2 SYT11 T C exonic synonymous SNV SYT11:NM_152280:exon2:c.T546C:p.H182H
1 155880573 2 RIT1 C G exonic nonsynonymous SNV RIT1:NM_001256821:exon2:c.G31C:p.E11Q RS493446 LDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol:Advanced age-related macular degeneration:Birth weight
1 156499969 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon34:c.A4332G:p.L1444L
1 156526444 2 IQGAP3 T C exonic nonsynonymous SNV IQGAP3:NM_178229:exon12:c.A1171G:p.R391G
1 156532977 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q
1 156536221 2 IQGAP3 G C exonic synonymous SNV IQGAP3:NM_178229:exon3:c.C243G:p.P81P
1 156536251 2 IQGAP3 T C exonic synonymous SNV IQGAP3:NM_178229:exon3:c.A213G:p.L71L
1 156561651 2 NAXE G C exonic nonsynonymous SNV NAXE:NM_144772:exon1:c.G55C:p.V19L
1 156563726 2 NAXE A C exonic synonymous SNV NAXE:NM_144772:exon6:c.A717C:p.I239I
1 156563813 2 NAXE G A exonic synonymous SNV NAXE:NM_144772:exon6:c.G804A:p.E268E RS6668178 Serum creatinine:Gene expression of APOA1BP in peripheral blood monocytes:Body mass index (BMI):Gene expression of APOA1BP in normal prepouch ileum:Gene expression of GPATCH4 (probeID ILMN_2383305) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GPATCH4 (probeID ILMN_2383305) in cerebellum in Alzheimer's disease cases and controls
1 156563852 2 NAXE C T exonic synonymous SNV NAXE:NM_144772:exon6:c.C843T:p.T281T
1 156646668 2 NES A G exonic nonsynonymous SNV NES:NM_006617:exon1:c.T389C:p.V130A
1 156705593 2 RRNAD1 G C exonic nonsynonymous SNV RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L
1 156713512 2 HDGF C T exonic synonymous SNV HDGF:NM_001126050:exon5:c.G696A:p.E232E,HDGF:NM_001126051:exon5:c.G627A:p.E209E,HDGF:NM_001319186:exon5:c.G717A:p.E239E,HDGF:NM_001319187:exon5:c.G552A:p.E184E,HDGF:NM_004494:exon5:c.G648A:p.E216E,HDGF:NM_001319188:exon6:c.G552A:p.E184E
1 156737969 1 PRCC C T exonic nonsynonymous SNV PRCC:NM_005973:exon1:c.C406T:p.P136S RS11264542 Waist hip ratio:Gene expression of ISG20L2 in blood:Gene expression of MRPL24 in blood:Gene expression of C1orf66 in blood:Serum concentration of eicosapentaenoate (EPA; 20:5n3):Years of education
1 156877457 2 PEAR1 T C exonic nonsynonymous SNV PEAR1:NM_001080471:exon7:c.T700C:p.S234P
1 156907081 2 ARHGEF11 T C exonic nonsynonymous SNV ARHGEF11:NM_014784:exon38:c.A4280G:p.H1427R,ARHGEF11:NM_198236:exon39:c.A4400G:p.H1467R RS945508 Differential exon level expression of ARHGEF11 [probe 2438661] in brain cortex:Methylation levels at chr1:155283095-155283145 [hg18 coord, probe cg14265075] in Caudal pons:Methylation levels at chr1:155283095-155283145 [hg18 coord, probe cg14265075] in Frontal cortex:Height:Tetrology of fallot:Salmonella-induced pyroptosis
1 156907115 2 ARHGEF11 T C exonic nonsynonymous SNV ARHGEF11:NM_014784:exon38:c.A4246G:p.S1416G,ARHGEF11:NM_198236:exon39:c.A4366G:p.S1456G
1 161721707 1 DUSP12 C T exonic synonymous SNV DUSP12:NM_007240:exon3:c.C510T:p.Y170Y RS1063178 Triglycerides change with statins:Total cholesterol:Neuroblastoma (brain cancer):Hypertension (early onset hypertension)
1 161751741 1 ATF6 A G exonic nonsynonymous SNV ATF6:NM_007348:exon3:c.A199G:p.M67V RS1058405 Gene expression change of FCRLA (ENSG00000132185) in dendritic cells after treatment with Mycobacterium tuberculosis
1 165652273 2 ALDH9A1 A G exonic synonymous SNV ALDH9A1:NM_000696:exon3:c.T402C:p.I134I RS1143659 HOMA-B:Lp-PLA2 mass:Lp-PLA2 activity:Serum ratio of (4-hydroxyphenylacetate)/(inosine)
1 167906239 2 DCAF6 A C exonic synonymous SNV DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_001349773:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R
1 169823718 1 SCYL3 T C exonic nonsynonymous SNV SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R RS4656197 Triglycerides:Differential exon level expression of C1orf112 [probe 2366603] in peripheral blood mononuclear cells:Differential exon level expression of C1orf112 [probe 2366603] in brain cortex:Alzheimer's disease:HOMA-B:HOMA-IR:Gene expression of SELL in blood:Serum ratio of (androsterone sulfate)/(N2,N2-dimethylguanosine):Years of education:Tetrology of fallot:Transmission distortion
1 170501385 2 GORAB A C exonic synonymous SNV GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G
1 170521376 1 GORAB G A exonic nonsynonymous SNV GORAB:NM_152281:exon5:c.G958A:p.E320K,GORAB:NM_001320252:exon7:c.G418A:p.E140K RS913257 Simpson-Angus Scale:Alzheimer's disease:Serum ratio of (glycocholate)/(theophylline)
1 172411496 2 PIGC A G exonic synonymous SNV PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G RS2230471 Height:Waist hip ratio:Bipolar disorder:Aortic valve calcium
1 179887125 2 TOR1AIP1 G A exonic synonymous SNV TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A RS627897 Triglycerides:Differential exon level expression of TOR1AIP2 [probe 2446230] in brain cortex:Differential exon level expression of TOR1AIP1 [probe 2369827] in brain cortex:Gene expression of TMSL8 in peripheral blood monocytes:Height:Serum ratio of (dodecanedioate)/(indolepropionate)
1 180145088 2 QSOX1 A G exonic synonymous SNV QSOX1:NM_001004128:exon4:c.A435G:p.T145T,QSOX1:NM_002826:exon4:c.A435G:p.T145T RS2298206 Comorbid depressive syndrome and alcohol dependence
1 182850727 2 DHX9 T C exonic synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T
1 183486859 2 SMG7 G A exonic synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L RS789169 Waist hip ratio
1 197704793 2 DENND1B C G exonic synonymous SNV DENND1B:NM_001195216:exon3:c.G216C:p.P72P
1 197704802 2 DENND1B G A exonic synonymous SNV DENND1B:NM_001195216:exon3:c.C207T:p.D69D
1 197704841 2 DENND1B A G exonic synonymous SNV DENND1B:NM_001195216:exon3:c.T168C:p.P56P
1 197704846 2 DENND1B A G exonic nonsynonymous SNV DENND1B:NM_001195216:exon3:c.T163C:p.F55L
1 200618238 2 DDX59 T C exonic synonymous SNV DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S RS6665604 Arthritis including non-Rheumatoid:Cystatin C in serum:Serum concentration of lathosterol
1 200881172 1 C1orf106 C A exonic synonymous SNV C1orf106:NM_001142569:exon9:c.C1551A:p.R517R,C1orf106:NM_018265:exon9:c.C1848A:p.R616R
1 201112981 2 TMEM9 A G exonic synonymous SNV TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y RS8158 HOMA-IR:Lp-PLA2 mass:Gene expression of TMEM9 in peripheral blood monocytes:Triglycerides:Serum ratio of (dehydroisoandrosterone sulfate (DHEA-S))/(riboflavin (Vitamin B2)):Bipolar disorder:Aortic valve calcium
1 201970562 2 RNPEP T C exonic synonymous SNV RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V
1 201981862 1 ELF3 T C exonic synonymous SNV ELF3:NM_001114309:exon5:c.T573C:p.P191P,ELF3:NM_004433:exon5:c.T573C:p.P191P RS2819362 HOMA-B:Total cholesterol:Mitral annular calcium:Gene expression of RNPEP in normal prepouch ileum
1 202705455 2 KDM5B G C exonic synonymous SNV KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P RS1141109 Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:Serum ratio of (1-heptadecanoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Transmission distortion:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight
1 202715284 2 KDM5B G A exonic synonymous SNV KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y RS1141108 Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:LDL cholesterol change with statins:Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus
1 202718202 2 KDM5B G A exonic synonymous SNV KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H RS1892164 Fasting blood glucose:Triglycerides change with statins:Total cholesterol change with statins
1 202733238 2 KDM5B C T exonic synonymous SNV KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T RS3196669 Schizophrenia:Premature ovarian failure:Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:LDL cholesterol change with statins:Pulse pressure:Gene expression of CYB5R1 in blood:Serum ratio of (cysteine-glutathione disulfide)/(stearoylcarnitine):Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus
1 203148633 2 CHI3L1 A G exonic synonymous SNV CHI3L1:NM_001276:exon10:c.T1092C:p.C364C
1 203152801 1 CHI3L1 T C exonic nonsynonymous SNV CHI3L1:NM_001276:exon5:c.A433G:p.R145G RS880633 Asthma:Asthma, childhood, later and unknown onset, and severe and industrial asthma:Asthma, childhood onset:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of ADORA1///MYBPH in blood:Birth weight:Primary rhegmatogenous retinal detachment:Hypertension (early onset hypertension)
1 203652444 2 ATP2B4 A G exonic synonymous SNV ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S RS1419114 Gene expression of ATP2B4 in blood:Serum ratio of (alpha-tocopherol)/(phenyllactate (PLA)):Mean corpuscular hemoglobin concentration (MCHC):Mean corpuscular volume (MCV)
1 203667409 2 ATP2B4 T C exonic synonymous SNV ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L RS2228445 Triglycerides:Mean corpuscular hemoglobin concentration (MCHC)
1 204199614 2 PLEKHA6 C T exonic nonsynonymous SNV PLEKHA6:NM_014935:exon18:c.G2510A:p.R837K RS10900562 Simpson-Angus Scale:LDL cholesterol:Total cholesterol
1 204237416 2 PLEKHA6 C T exonic nonsynonymous SNV PLEKHA6:NM_014935:exon4:c.G127A:p.V43I RS10900571 Barnes Akathisia Rating Scale:Bipolar disorder
1 204379617 2 PPP1R15B T C exonic nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A923G:p.N308S RS3014626 Barnes Akathisia Rating Scale
1 204438334 2 PIK3C2B C T exonic synonymous SNV PIK3C2B:NM_002646:exon3:c.G597A:p.P199P RS1124777 HIV-1 disease progression:Total cholesterol:LDL cholesterol:Age at menarche
1 204438643 2 PIK3C2B G T exonic synonymous SNV PIK3C2B:NM_002646:exon3:c.C288A:p.L96L RS1553921 HIV-1 disease progression:Total cholesterol:LDL cholesterol:Age at menarche:Adiponectin levels
1 205052939 2 TMEM81 G A exonic synonymous SNV TMEM81:NM_203376:exon1:c.C510T:p.L170L RS4950979 Waist hip ratio
1 205053219 2 TMEM81 C T exonic nonsynonymous SNV TMEM81:NM_203376:exon1:c.G230A:p.R77Q RS4951168 Gene expression of RIPK5 in peripheral blood monocytes:Waist hip ratio:Serum ratio of (trigonelline (N'-methylnicotinate))/(ursodeoxycholate)
1 205130413 2 DSTYK A G exonic nonsynonymous SNV DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R RS3851294 Waist hip ratio:Serum ratio of (gamma-glutamylthreonine*)/(trans-4-hydroxyproline)
1 205272926 1 NUAK2 C T exonic synonymous SNV NUAK2:NM_030952:exon7:c.G1671A:p.L557L RS1106201 Fasting blood glucose:HOMA-B
1 205272983 1 NUAK2 C G exonic synonymous SNV NUAK2:NM_030952:exon7:c.G1614C:p.L538L RS1106202 Fasting blood glucose:HOMA-B:Gene expression of DSTYK (ENSG00000133059) in dendritic cells
1 205275421 2 NUAK2 A G exonic synonymous SNV NUAK2:NM_030952:exon5:c.T717C:p.G239G
1 205589574 1 ELK4 C T exonic synonymous SNV ELK4:NM_001973:exon3:c.G600A:p.P200P,ELK4:NM_021795:exon3:c.G600A:p.P200P
1 206516261 1 SRGAP2 C T exonic unknown UNKNOWN
1 206566195 1 SRGAP2 C T exonic unknown UNKNOWN
1 206626607 1 SRGAP2 G A exonic unknown UNKNOWN RS11120575 HDL cholesterol:LDL cholesterol:Fasting blood glucose:Rheumatoid arthritis:HDL cholesterol:Refractive error
1 206647742 2 IKBKE A G exonic synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q
1 206647787 2 IKBKE T C exonic synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I RS1539243 Arthritis including non-Rheumatoid:Gene expression of IKBKE in peripheral blood monocytes:Autism:Body mass index (BMI):Gene expression of IKBKE///C1orf147 in blood:Gene expression of [probe 3130152 centered at chr1:204744311] in blood:Serum concentration of pantothenate:Coronary artery disease (CAD)
1 206905043 1 MAPKAPK2 C T exonic synonymous SNV MAPKAPK2:NM_004759:exon8:c.C951T:p.T317T,MAPKAPK2:NM_032960:exon8:c.C951T:p.T317T RS4073250 HOMA-IR:Asthma:PROP taste detection threshold:Resistance to kuru in aged women despite likely exposure
1 207195779 2 C1orf116 A G exonic nonsynonymous SNV C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P RS2842726 Serum creatinine:Total cholesterol:Triglycerides:Refractive error
1 209788703 2 LAMB3 T C exonic synonymous SNV LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S RS1049607 HDL cholesterol:LDL cholesterol
1 209791929 2 LAMB3 G T exonic nonsynonymous SNV LAMB3:NM_001017402:exon18:c.C2777A:p.A926D,LAMB3:NM_000228:exon19:c.C2777A:p.A926D,LAMB3:NM_001127641:exon19:c.C2777A:p.A926D RS2076222 Triglycerides change with statins:HDL cholesterol change with statins:HDL cholesterol:Serum ratio of (hexadecanedioate)/(tetradecanedioate):Refractive error
1 209797198 2 LAMB3 A G exonic synonymous SNV LAMB3:NM_001017402:exon14:c.T2124C:p.S708S,LAMB3:NM_000228:exon15:c.T2124C:p.S708S,LAMB3:NM_001127641:exon15:c.T2124C:p.S708S RS2072937 Triglycerides change with statins:HDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol:Refractive error
1 209799253 2 LAMB3 A G exonic synonymous SNV LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C
1 212273639 2 DTL C T exonic nonsynonymous SNV DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V RS3135474 Aortic valve calcium
1 212274413 2 DTL A C exonic nonsynonymous SNV DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T RS6540718 Rheumatoid arthritis:Waist hip ratio
1 212515613 1 PPP2R5A C T exonic synonymous SNV PPP2R5A:NM_001199756:exon4:c.C393T:p.F131F,PPP2R5A:NM_006243:exon4:c.C564T:p.F188F RS1774249 Gene expression of TMEM206 [probe 222752_s_at] in lymphoblastoid cell lines:HOMA-B:Height:Waist hip ratio:Gene expression of PPP2R5A in blood:Sporadic Creutzfeldt-Jakob disease:Years of education:Adiponectin levels:Hypertension (early onset hypertension):College completion
1 212560327 2 TMEM206 A G exonic synonymous SNV TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F
1 212619339 1 NENF T C exonic synonymous SNV NENF:NM_013349:exon4:c.T510C:p.D170D RS4804 Gene expression of TMEM206 [probe 222752_s_at] in lymphoblastoid cell lines:HOMA-IR:Total cholesterol:Waist hip ratio:Serum ratio of (gamma-tocopherol)/(pyridoxate):Comorbid depressive syndrome and alcohol dependence:Gene expression of TMEM206 in normal prepouch ileum:Alcohol dependence:Alcohol dependence symptom count
1 214492286 2 SMYD2 G A exonic nonsynonymous SNV SMYD2:NM_020197:exon5:c.G494A:p.G165E RS1134647 Fasting blood glucose:Rheumatoid arthritis:Waist hip ratio:Serum concentration of 1-eicosatrienoylglycerophosphocholine*:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 214542819 2 PTPN14 T C exonic synonymous SNV PTPN14:NM_005401:exon17:c.A3252G:p.E1084E RS1135352 Waist hip ratio:Infant head circumference
1 214811244 1 CENPF C G exonic nonsynonymous SNV CENPF:NM_016343:exon11:c.C1482G:p.H494Q RS2070065 HDL cholesterol change with statins:Serum concentration of glycerol:Birth weight
1 214816224 1 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.G4543A:p.A1515T RS2666839 Schizophrenia:HDL cholesterol change with statins:Late onset Alzheimer's disease:Serum concentration of 3-phenylpropionate (hydrocinnamate):Birth weight:Aortic valve calcium
1 214818223 1 CENPF T A exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.T5310A:p.H1770Q RS3748693 HDL cholesterol change with statins:Birth weight
1 214830617 2 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G RS438034 Neuroblastoma (brain cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy (progression free survival):Serum ratio of (3-phenylpropionate (hydrocinnamate))/(androsterone sulfate):Topiramate plasma level change in healthy volunteers in response to topiramate treatment:Multiple myeloma:Birth weight:Adiponectin levels
1 214837110 2 CENPF C G exonic nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K RS7289 Lp-PLA2 mass:Birth weight:Adiponectin levels
1 219383905 2 LYPLAL1 A G exonic nonsynonymous SNV LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M
1 220197625 2 EPRS G T exonic nonsynonymous SNV EPRS:NM_004446:exon8:c.C924A:p.D308E RS2230301 Stabilized warfarin dose:Triglycerides:Differential exon level expression of EPRS [probe 2456787] in peripheral blood mononuclear cells:Differential exon level expression of EPRS [probe 2456787] in brain cortex:Aortic valve calcium:Amyotrophic lateral sclerosis (ALS) age of onset:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
1 222721288 1 HHIPL2 C T exonic synonymous SNV HHIPL2:NM_024746:exon1:c.G99A:p.L33L RS4846382 Serum creatinine:Triglycerides
1 222802006 2 MIA3 A G exonic nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E
1 222833601 2 MIA3 T C exonic synonymous SNV MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P
1 223178561 2 DISP1 A C exonic synonymous SNV DISP1:NM_001350630:exon9:c.A3093C:p.P1031P,DISP1:NM_032890:exon10:c.A3822C:p.P1274P
1 223900408 2 CAPN2 C G exonic nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E
1 223934720 2 CAPN2 G A exonic synonymous SNV CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A
1 224492746 2 NVL C T exonic synonymous SNV NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L RS3754090 HDL cholesterol
1 224495852 2 NVL C T exonic synonymous SNV NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R RS7534447 HDL cholesterol
1 225607144 2 LBR C T exonic nonsynonymous SNV LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N RS2230419 Rheumatoid arthritis
1 225609884 2 LBR A G exonic synonymous SNV LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P RS1056608 Serum creatinine:Diabetic retinopathy in Type 2 diabetes mellitus
1 225974614 1 SRP9 A G exonic nonsynonymous SNV SRP9:NM_001130440:exon3:c.A192G:p.I64M
1 226019653 1 EPHX1 G A exonic synonymous SNV EPHX1:NM_000120:exon3:c.G357A:p.K119K,EPHX1:NM_001136018:exon3:c.G357A:p.K119K,EPHX1:NM_001291163:exon3:c.G357A:p.K119K RS1131873 LDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Autism:HDL cholesterol:LDL cholesterol:Serum concentration of 1-stearoylglycerol (1-monostearin):Acute lung injury following major trauma
1 226555302 1 PARP1 A G exonic nonsynonymous SNV PARP1:NM_001618:exon17:c.T2285C:p.V762A RS1136410 Hypertension, combined control dataset, gender differentiated:Eye color:LDL cholesterol:Chronic kidney disease:Gene expression of TNFRSF10D in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Waist hip ratio:Neuroblastoma (brain cancer):Gene expression of PARP1 in blood:Serum ratio of (arabinose)/(aspartylphenylalanine):Age at death with kuru exposure:Infant head circumference:Refractive error:Salmonella-induced pyroptosis:Coronary artery disease (CAD)
1 226570840 1 PARP1 T C exonic synonymous SNV PARP1:NM_001618:exon8:c.A1056G:p.K352K RS1805415 LDL cholesterol:Chronic kidney disease:LDL cholesterol:Total cholesterol:Waist hip ratio:Refractive error:Infant head circumference
1 226573364 2 PARP1 A G exonic synonymous SNV PARP1:NM_001618:exon7:c.T852C:p.A284A RS1805414 Chronic kidney disease:Refractive error:Salmonella-induced pyroptosis
1 226589958 1 PARP1 G A exonic synonymous SNV PARP1:NM_001618:exon2:c.C243T:p.D81D RS1805404 Gene expression of TNFRSF10D in peripheral blood monocytes:Refractive error:Salmonella-induced pyroptosis
1 227182033 2 CDC42BPA G A exonic nonsynonymous SNV CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V RS2802269 Triglycerides:Adiponectin levels
1 227182575 2 CDC42BPA A G exonic synonymous SNV CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S RS1045247 Schizophrenia:LDL cholesterol change with statins:Microalbuminuria:Late onset Alzheimer's disease:Gene expression of CABC1 in blood:Serum ratio of (bilirubin (E,Z or Z,E)*)/(taurodeoxycholate):Sporadic Creutzfeldt-Jakob disease
1 227216662 2 CDC42BPA T C exonic synonymous SNV CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K RS1929861 Microalbuminuria:Gene expression of CABC1 in blood:Variant Creutzfeldt-Jakob disease:Infant head circumference
1 229738170 2 TAF5L T G exonic synonymous SNV TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R RS3753886 Neuroticism:Lp-PLA2 activity:Salmonella-induced pyroptosis:Acute lung injury following major trauma
1 229738236 2 TAF5L G A exonic synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P RS4925500 Serum ratio of (1-heptadecanoylglycerophosphocholine)/(allantoin)
1 229772693 2 URB2 T G exonic nonsynonymous SNV URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G RS3811473 Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of TAF5L in blood cells in Celiac disease:Gene expression of KIAA0133 in blood:Gene expression of [probe Human_RefSeq-8_v2-6270750 centered at chr1:227801787] in blood:Serum concentration of 1-stearoylglycerol (1-monostearin):Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Acute lung injury following major trauma
1 229790048 2 URB2 A G exonic synonymous SNV URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R RS7521953 Total cholesterol:Lp-PLA2 activity:Serum concentration of scyllo-inositol:Acute lung injury following major trauma:Salmonella-induced pyroptosis
1 230829139 1 COG2 A G exonic synonymous SNV COG2:NM_001145036:exon18:c.A2214G:p.X738X,COG2:NM_007357:exon18:c.A2217G:p.X739X RS1051038 2 hour glucose:Lp-PLA2 activity:Gene expression of NUDT15 in peripheral blood monocytes:Gene expression of COG2 in normal prepouch ileum
1 230841687 2 AGT T C exonic synonymous SNV AGT:NM_000029:exon3:c.A1116G:p.L372L
1 231401902 2 GNPAT G A exonic synonymous SNV GNPAT:NM_001316350:exon6:c.G732A:p.E244E,GNPAT:NM_014236:exon7:c.G915A:p.E305E RS574553 LDL cholesterol change with statins:Serum creatinine
1 231408091 1 GNPAT A G exonic nonsynonymous SNV GNPAT:NM_001316350:exon10:c.A1373G:p.D458G,GNPAT:NM_014236:exon11:c.A1556G:p.D519G RS11558492 Schizophrenia:Differential exon level expression of GNPAT [probe 2385228] in peripheral blood mononuclear cells:Asthma:Serum ratio of (3-phenylpropionate (hydrocinnamate))/(biliverdin):Systolic blood pressure (SBP):Sporadic Creutzfeldt-Jakob disease:Age at death with kuru exposure:Gene expression of EXOC8 (ENSG00000116903) in dendritic cells treated with Mycobacterium tuberculosis
1 231488524 1 SPRTN C T exonic nonsynonymous SNV SPRTN:NM_032018:exon5:c.C887T:p.P296L RS2437150 LDL cholesterol:Schizophrenia:Gene expression of C1orf124 in CD4+ lymphocytes:Gene expression of C1orf124 [probe ILMN_14527] in osteoblasts treated with PGE2:Gene expression of C1orf124 [probe ILMN_14527] in untreated osteoblasts:Rheumatoid arthritis:Gene expression of C1orf124 [transcript NM_001010984, probe 1070592] in liver:Gene expression of C1orf124 in blood:Gene expression of [probe 4010270 centered at chr1:229729708] in blood:Hypertension (early onset hypertension):Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes
1 234582651 1 TARBP1 T C exonic nonsynonymous SNV TARBP1:NM_005646:exon12:c.A2032G:p.S678G RS4920246 College completion
1 236208773 1 NID1 C T exonic nonsynonymous SNV NID1:NM_002508:exon3:c.G736A:p.V246I RS10733133 Triglycerides:HDL cholesterol:Lp-PLA2 mass:Body mass index (BMI):Refractive error:Advanced age-related macular degeneration (geographic atrophy)
1 236413230 2 ERO1B T A exonic nonsynonymous SNV ERO1B:NM_019891:exon5:c.A386T:p.D129V
1 236700807 1 LGALS8 T A exonic nonsynonymous SNV LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y RS1126407 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:College completion:Years of education
1 236700823 1 LGALS8 T C exonic synonymous SNV LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P RS1041934 Gene expression of HEATR1 in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:Gene expression of LGALS8 in normal prepouch ileum:Years of education:Salmonella-induced pyroptosis:College completion
1 236700857 1 LGALS8 C T exonic nonsynonymous SNV LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C RS1041935 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:Years of education:College completion
1 236702209 1 LGALS8 C T exonic synonymous SNV LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S
1 236702210 2 LGALS8 A G exonic nonsynonymous SNV LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V
1 236702374 1 LGALS8 G A exonic synonymous SNV LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L RS2472126 Triglycerides:HDL cholesterol change with statins:Serum creatinine:Chronic kidney disease:PROP taste detection threshold:Salmonella-induced pyroptosis:Years of education:College completion:Gene expression of LGALS8 in normal prepouch ileum
1 236711323 1 LGALS8 T C exonic synonymous SNV LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y RS15701 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:Differential exon level expression of LGALS8 [probe 2386902] in brain cortex:HDL cholesterol change with statins:Gene expression of HEATR1 in blood:Gene expression of LGALS8 in blood:PROP taste detection threshold:Gene expression of LGALS8 in normal prepouch ileum:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Alzheimer's disease cases:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in non-Alzheimer's disease samples:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:College completion:Salmonella-induced pyroptosis:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in Alzheimer's disease cases:Years of education:Transmission distortion
1 236716959 1 HEATR1 C T exonic synonymous SNV HEATR1:NM_018072:exon43:c.G6159A:p.S2053S RS2275685 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection threshold:Gene expression of LGALS8 in normal prepouch ileum:Salmonella-induced pyroptosis:College completion
1 236717926 1 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon42:c.A6050G:p.E2017G RS2275687 Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:College completion:Salmonella-induced pyroptosis:Years of education:Gene expression of LGALS8 in normal prepouch ileum
1 236718620 1 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon41:c.A5899G:p.N1967D RS1126627 LDL cholesterol:Serum creatinine:Chronic kidney disease:Serum ratio of (gamma-glutamylthreonine*)/(octadecanedioate):PROP taste detection threshold:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LGALS8 in normal prepouch ileum:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Progressive Supranuclear Palsy cases:Salmonella-induced pyroptosis:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in Alzheimer's disease cases:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in Alzheimer's disease cases:Gene expression of HEATR1 (probeID ILMN_1787762) in cerebellum in non-Alzheimer's disease samples:Gene expression of HEATR1 (probeID ILMN_1787762) in temporal cortex in Alzheimer's disease cases and controls
1 236719135 2 HEATR1 T C exonic synonymous SNV HEATR1:NM_018072:exon39:c.A5619G:p.E1873E
1 236719193 1 HEATR1 A G exonic nonsynonymous SNV HEATR1:NM_018072:exon39:c.T5561C:p.V1854A RS1885533 Triglycerides:HDL cholesterol change with statins:PROP taste detection threshold:College completion:Years of education
1 236721610 2 HEATR1 G A exonic synonymous SNV HEATR1:NM_018072:exon36:c.C5131T:p.L1711L RS2275688 Triglycerides:HDL cholesterol change with statins:College completion:Years of education:Salmonella-induced pyroptosis
1 236721660 2 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon36:c.A5081G:p.N1694S RS2275689 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:HDL cholesterol change with statins:Total cholesterol:Asthma:Transmission distortion:Salmonella-induced pyroptosis:College completion:Years of education
1 236721731 2 HEATR1 T C exonic synonymous SNV HEATR1:NM_018072:exon36:c.A5010G:p.A1670A
1 236749649 1 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon15:c.A1819G:p.M607V RS2794763 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with statins:Gene expression of LGALS8 in blood:Serum ratio of (3-carboxy-4-methyl-5-propyl-2-furanpropanoate (CMPF))/(arabinose):Years of education
1 242045275 2 EXO1 C T exonic nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C
1 243354791 1 CEP170 C T exonic nonsynonymous SNV CEP170:NM_001042404:exon8:c.G637A:p.G213S,CEP170:NM_001042405:exon8:c.G637A:p.G213S,CEP170:NM_014812:exon8:c.G637A:p.G213S
1 243579112 1 SDCCAG8 G A exonic synonymous SNV SDCCAG8:NM_001350249:exon14:c.G1431A:p.E477E,SDCCAG8:NM_006642:exon14:c.G1725A:p.E575E,SDCCAG8:NM_001350247:exon15:c.G822A:p.E274E,SDCCAG8:NM_001350248:exon15:c.G1821A:p.E607E,SDCCAG8:NM_001350246:exon16:c.G822A:p.E274E,SDCCAG8:NM_001350251:exon17:c.G822A:p.E274E RS10927011 Gene expression of SDCCAG8 [probe 1553034_at] in lymphoblastoid cell lines:Cystatin C in serum:Refractive error:Years of education:Obesity with early age of onset (age >2):College completion
1 246021941 1 SMYD3 T C exonic synonymous SNV SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A RS2362587 HDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Triglycerides:Microalbuminuria:Advanced age-related macular degeneration (geographic atrophy)
1 246670481 2 SMYD3 C G exonic nonsynonymous SNV SMYD3:NM_001167740:exon1:c.G39C:p.K13N RS7520453 HDL cholesterol:Suicide attempts in bipolar disorder (substance abuse/dependence):PROP taste detection threshold:Adiponectin levels
1 246720798 2 TFB2M G A exonic synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I
1 246755124 2 CNST T C exonic nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S RS6702823 Stabilized warfarin dose:2 hour glucose:Rheumatoid arthritis:Serum ratio of (2-stearoylglycerophosphocholine*)/(alpha-ketoglutarate):Maternal transmission distortion:Parkinson's disease:Coronary artery disease (CAD):Tetrology of fallot
1 249142169 1 ZNF672 C T exonic synonymous SNV ZNF672:NM_024836:exon4:c.C696T:p.C232C
1 249150116 1 ZNF692 G C exonic nonsynonymous SNV ZNF692:NM_001193328:exon6:c.C554G:p.P185R,ZNF692:NM_001136036:exon7:c.C704G:p.P235R,ZNF692:NM_001350072:exon7:c.C686G:p.P229R,ZNF692:NM_001350073:exon7:c.C77G:p.P26R,ZNF692:NM_017865:exon7:c.C689G:p.P230R RS13313088 HDL cholesterol:LDL cholesterol:Advanced age-related macular degeneration
2 3483205 2 TRAPPC12 C T exonic synonymous SNV TRAPPC12:NM_001321102:exon12:c.C2181T:p.F727F,TRAPPC12:NM_016030:exon12:c.C2181T:p.F727F RS6767 Eye color:Schizophrenia:Total cholesterol change with statins:Pulse rate:Waist hip ratio:Gene expression of TTC15 in blood:Gene expression of ADI1 in blood:Serum ratio of (4-acetamidobutanoate)/(ursodeoxycholate):Gene expression of TTC15 (probeID ILMN_1693317) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TTC15 (probeID ILMN_1693317) in temporal cortex in Alzheimer's disease cases and controls
2 3604483 1 RNASEH1 C T exonic nonsynonymous SNV RNASEH1:NM_001286834:exon2:c.G62A:p.R21K,RNASEH1:NM_002936:exon2:c.G140A:p.R47K
2 9491017 2 ASAP2 C T exonic synonymous SNV ASAP2:NM_001135191:exon12:c.C1104T:p.L368L,ASAP2:NM_003887:exon12:c.C1104T:p.L368L
2 10045014 2 TAF1B C T exonic synonymous SNV TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y RS400917 Refractive error
2 10045024 2 TAF1B G A exonic nonsynonymous SNV TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I
2 10262920 1 RRM2 T G exonic nonsynonymous SNV RRM2:NM_001165931:exon1:c.T175G:p.S59A RS1130609 LDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C2orf48 in normal prepouch ileum
2 15747393 2 DDX1 C T exonic synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N RS10929378 Serum creatinine:College completion
2 17954027 2 GEN1 G A exonic nonsynonymous SNV GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N
2 20101487 1 TTC32 G A exonic synonymous SNV TTC32:NM_001008237:exon1:c.C129T:p.S43S RS2304589 Mean LDL cholesterol:Bipolar disorder:Serum creatinine:Height:Diastolic blood pressure (DBP):Gene expression of TTC32 (probeID ILMN_2083588) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TTC32 (probeID ILMN_2083588) in cerebellum in Alzheimer's disease cases and controls
2 20403794 2 SDC1 A T exonic nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q
2 20823724 2 HS1BP3 T C exonic synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P
2 20824559 2 HS1BP3 C T exonic synonymous SNV HS1BP3:NM_022460:exon5:c.G717A:p.E239E RS2305457 HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Bipolar disorder
2 20838318 2 HS1BP3 G A exonic synonymous SNV HS1BP3:NM_022460:exon4:c.C501T:p.F167F RS3796064 HDL cholesterol:Serum concentration of thymol sulfate
2 21225281 2 APOB C T exonic nonsynonymous SNV APOB:NM_000384:exon29:c.G13013A:p.S4338N RS1042034 HDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:HDL cholesterol:Serum creatinine:Chronic kidney disease:Lp-PLA2 activity:Lp-PLA2 mass:Total cholesterol:LDL cholesterol:HDL cholesterol:Triglycerides:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Serum Val/Serum-TG:Serum XS-VLDL-L:Serum Ile/Serum-TG:Serum ApoB/ApoA1:Total cholesterol:Serum M-VLDL-C:LDL cholesterol:Serum M-VLDL-CE:Serum IDL-C-eFR:Serum M-HDL-C/M-HDL-PL:Serum XS-VLDL-P:Serum S-VLDL-C:Serum S-VLDL-L:Serum XS-VLDL-PL:Serum S-VLDL-FC:Triglycerides (males):Serum S-VLDL-PL:Triglycerides (females):Triglycerides:VLDL cholesterol particle diameter:Serum S-VLDL-TG:Acute lung injury following major trauma:Serum XS-VLDL-TG:Serum Gp/Serum-TG:HDL cholesterol:Triglycerides (ln):Serum S-VLDL-P:Serum Leu/Serum-TG:Serum Serum-TG/Glc:Triglycerides:Serum IDL-TG
2 24108652 2 ATAD2B T C exonic nonsynonymous SNV ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R
2 24300563 1 TP53I3 T C exonic nonsynonymous SNV TP53I3:NM_001206802:exon4:c.A688G:p.T230A
2 24369674 2 FAM228B C T exonic unknown UNKNOWN RS11693860 Alzheimer's disease:Total cholesterol:Serum creatinine:Gene expression of TP53I3 in blood:Serum concentration of piperine:Sporadic Creutzfeldt-Jakob disease:Years of education
2 24905927 2 NCOA1 G C exonic synonymous SNV NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T RS11125744 Cystatin C in serum:Height:Parkinson's disease
2 24974945 2 NCOA1 T G exonic synonymous SNV NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L RS11125763 Cystatin C in serum:Triglycerides:Height:Body mass index (BMI):Mitral annular calcium
2 25046090 2 ADCY3 T C exonic synonymous SNV ADCY3:NM_001320613:exon18:c.A2874G:p.S958S,ADCY3:NM_004036:exon18:c.A2871G:p.S957S RS1127568 Irritible bowel syndrome:Premature ovarian failure:Cystatin C in serum:Serum creatinine:Height:Gene expression of CENPO in blood:Serum ratio of (allantoin)/(pro-hydroxy-pro):Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age >2)
2 25194741 2 DNAJC27 G A exonic synonymous SNV DNAJC27:NM_001198559:exon1:c.C33T:p.P11P,DNAJC27:NM_016544:exon1:c.C33T:p.P11P
2 25377176 2 EFR3B T C exonic synonymous SNV EFR3B:NM_001319099:exon23:c.T2316C:p.Y772Y,EFR3B:NM_014971:exon23:c.T2421C:p.Y807Y RS2164808 Serum creatinine:Height:Serum ratio of (aspartylphenylalanine)/(ursodeoxycholate):Bipolar disorder
2 26203678 2 KIF3C T C exonic nonsynonymous SNV KIF3C:NM_002254:exon1:c.A1109G:p.Q370R
2 26607992 2 SELENOI T C exonic unknown UNKNOWN RS934280 Triglycerides:Total cholesterol
2 27303755 2 EMILIN1 A G exonic nonsynonymous SNV EMILIN1:NM_007046:exon3:c.A446G:p.Q149R
2 27315252 1 KHK G A exonic nonsynonymous SNV KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I RS2304681 HDL cholesterol:Fasting blood glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Gene expression of KHK in CD4+ lymphocytes:Gene expression of KHK///CGREF1 in blood:Gene expression of KHK in blood:Bipolar disorder:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
2 27324724 1 CGREF1 G C exonic synonymous SNV CGREF1:NM_001166239:exon6:c.C375G:p.T125T,CGREF1:NM_006569:exon6:c.C375G:p.T125T RS2384571 HDL cholesterol:Fasting blood glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Diabetic retinopathy in Type 2 diabetes mellitus
2 27424636 1 SLC5A6 G A exonic nonsynonymous SNV SLC5A6:NM_021095:exon14:c.C1442T:p.S481F RS1395 Triglycerides:Fasting blood glucose:Total cholesterol:Serum creatinine:Total cholesterol:Triglycerides:Waist hip ratio:Atopy:Allergic rhinitis:Gene expression of SLC5A6///C2orf28 in blood:Gene expression of C2orf28 in blood:Gene expression of SLC5A6 in blood:Variant Creutzfeldt-Jakob disease:Crohn's disease:Gene expression of SLC5A6 in normal prepouch ileum:Serum urate:Gene expression of C2orf28 in normal prepouch ileum
2 27428295 2 SLC5A6 A G exonic synonymous SNV SLC5A6:NM_021095:exon7:c.T657C:p.I219I
2 27435250 2 ATRAID A G exonic nonsynonymous SNV ATRAID:NM_001170795:exon1:c.A14G:p.D5G,ATRAID:NM_080592:exon1:c.A179G:p.D60G
2 27440785 2 CAD C T exonic synonymous SNV CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T
2 27460968 1 CAD A G exonic synonymous SNV CAD:NM_001306079:exon29:c.A4584G:p.A1528A,CAD:NM_004341:exon30:c.A4773G:p.A1591A RS1141313 Triglycerides:Fasting blood glucose:Total cholesterol:Serum creatinine:Chronic kidney disease:Autism:Total cholesterol:Triglycerides:Waist hip ratio
2 27462076 1 CAD C T exonic synonymous SNV CAD:NM_001306079:exon31:c.C5040T:p.P1680P,CAD:NM_004341:exon32:c.C5229T:p.P1743P RS3739092 Triglycerides:Fasting blood glucose:Total cholesterol:Triglycerides:Waist hip ratio
2 27550967 1 GTF3C2 A G exonic synonymous SNV GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P RS1049817 Triglycerides:Triglycerides:Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides change with statins:Serum creatinine:Triglycerides:Total cholesterol:Height:Serum urate:Waist hip ratio:Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy):Gene expression of SLC5A6 in normal prepouch ileum:Adiponectin levels:Triglycerides:Serum urate:Gene expression of NRBP1 in normal prepouch ileum
2 27676287 1 IFT172 A T exonic synonymous SNV IFT172:NM_015662:exon35:c.T3915A:p.S1305S
2 29001691 1 PPP1CB A G exonic synonymous SNV PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q RS1128416 Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of WDR43 (ENSG00000163811) in dendritic cells treated with Mycobacterium tuberculosis:College completion:Gene expression of PPP1CB (ENSG00000213639) in dendritic cells:Years of education
2 29092679 1 TRMT61B T C exonic synonymous SNV TRMT61B:NM_017910:exon1:c.A465G:p.E155E RS4233729 HDL cholesterol:Fasting insulin:HOMA-IR:Fasting blood glucose:Triglycerides:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Years of education:College completion
2 29092850 1 TRMT61B G T exonic synonymous SNV TRMT61B:NM_017910:exon1:c.C294A:p.S98S RS4666122 Gene expression of probe 228222_at in lymphoblastoid cell lines:HDL cholesterol:Fasting insulin:HOMA-IR:Fasting blood glucose:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:College completion:Years of education:Gene expression of TRMT61B in normal prepouch ileum
2 29129418 1 WDR43 A G exonic synonymous SNV WDR43:NM_015131:exon3:c.A456G:p.E152E RS11688605 Fasting insulin:HOMA-IR:Cystatin C in serum:Gene expression of PPP1CB in peripheral blood monocytes:Triglycerides:Waist hip ratio:Body mass index (BMI):Years of education:Gene expression change of FAM179A (ENSG00000189350) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of FAM179A (ENSG00000189350) in dendritic cells
2 29135468 1 WDR43 C G exonic synonymous SNV WDR43:NM_015131:exon4:c.C498G:p.G166G RS6715296 Triglycerides change with statins:Birth weight
2 29169612 1 WDR43 T C exonic synonymous SNV WDR43:NM_015131:exon18:c.T2001C:p.D667D RS3087649 Triglycerides change with statins:Gene expression of TRMT61B in normal prepouch ileum:Gene expression of WDR43 in normal prepouch ileum:Birth weight
2 30381505 2 YPEL5 T C exonic synonymous SNV YPEL5:NM_016061:exon3:c.T162C:p.S54S,YPEL5:NM_001127399:exon4:c.T162C:p.S54S,YPEL5:NM_001127400:exon4:c.T162C:p.S54S,YPEL5:NM_001127401:exon5:c.T162C:p.S54S RS1137288 LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Taste change in healthy volunteers in response to topiramate treatment (Normal taste):Tetrology of fallot
2 32667182 2 BIRC6 G C exonic nonsynonymous SNV BIRC6:NM_016252:exon18:c.G3994C:p.V1332L
2 32855615 2 TTC27 A G exonic synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L
2 36825137 2 FEZ2 G A exonic nonsynonymous SNV FEZ2:NM_001042548:exon1:c.C149T:p.P50L,FEZ2:NM_005102:exon1:c.C149T:p.P50L
2 37230728 1 HEATR5B T C exonic synonymous SNV HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V RS1007823 Longstanding arthritis:Rheumatoid arthritis:Arthritis including non-Rheumatoid:2 hour glucose:HDL cholesterol:LDL cholesterol change with statins:Triglycerides:Kawasaki disease:Tetrology of fallot:Birth weight
2 37306343 2 HEATR5B G A exonic synonymous SNV HEATR5B:NM_019024:exon3:c.C258T:p.F86F
2 37456032 2 CEBPZ C T exonic nonsynonymous SNV CEBPZ:NM_005760:exon2:c.G304A:p.V102I RS2098386 Body mass index (BMI):Gene expression of EIF2AK2///CEBPZ///AC007390.5 in blood:Systolic blood pressure (SBP)
2 37599963 1 QPCT A C exonic nonsynonymous SNV QPCT:NM_012413:exon7:c.A1079C:p.H360P RS4670696 HDL cholesterol change with statins:Refractive error
2 39583446 2 MAP4K3 A G exonic synonymous SNV MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I RS8545 Serum creatinine:Gene expression of MORN2 in peripheral blood monocytes:Microalbuminuria:Serum concentration of serotonin (5HT):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Bipolar disorder:Salmonella-induced pyroptosis
2 42275819 1 PKDCC T C exonic synonymous SNV PKDCC:NM_138370:exon1:c.T480C:p.G160G
2 42510018 2 EML4 A G exonic nonsynonymous SNV EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E
2 42515388 2 EML4 A G exonic nonsynonymous SNV EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V RS10202624 LDL cholesterol:Triglycerides:Cystatin C in serum:Asthma:Waist hip ratio:Serum ratio of (3-indoxyl sulfate)/(valerate):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Aortic valve calcium
2 42515437 1 EML4 A G exonic nonsynonymous SNV EML4:NM_001145076:exon10:c.A1019G:p.K340R,EML4:NM_019063:exon11:c.A1193G:p.K398R
2 46618321 2
2 55407754 2 CLHC1 C T exonic nonsynonymous SNV CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I RS6716066 Triglycerides:Diastolic blood pressure (DBP)
2 55470115 2 MTIF2 C T exonic nonsynonymous SNV MTIF2:NM_001321004:exon12:c.G1666A:p.V556I,MTIF2:NM_001321005:exon12:c.G937A:p.V313I,MTIF2:NM_001321001:exon13:c.G1666A:p.V556I,MTIF2:NM_001321002:exon13:c.G1666A:p.V556I,MTIF2:NM_002453:exon13:c.G1666A:p.V556I,MTIF2:NM_001005369:exon14:c.G1666A:p.V556I,MTIF2:NM_001321003:exon14:c.G1666A:p.V556I RS11357 Triglycerides:Total cholesterol:Advanced age-related macular degeneration:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 55490819 2 MTIF2 G T exonic nonsynonymous SNV MTIF2:NM_001321004:exon3:c.C176A:p.T59N,MTIF2:NM_001321001:exon4:c.C176A:p.T59N,MTIF2:NM_001321002:exon4:c.C176A:p.T59N,MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N,MTIF2:NM_001321003:exon5:c.C176A:p.T59N RS1056445 Gene expression of C2orf63 [probe 228316_at] in lymphoblastoid cell lines:Psoriasis:Hip bone mineral density (BMD):Differential exon level expression of C2orf63 [probe 2553701] in peripheral blood mononuclear cells:Differential exon level expression of C2orf63 [probe 2553702] in peripheral blood mononuclear cells:Differential exon level expression of C2orf63 [probe 2553703] in peripheral blood mononuclear cells:Gene expression of C2orf63 [probe 2553682] in peripheral blood mononuclear cells:Gene expression of C2orf63 in CD4+ lymphocytes:Gene expression of MTIF2 [transcript NM_002453, probe A_23_P40072] in liver:Gene expression of C2orf63 in blood:Serum ratio of (5-dodecenoate (12:1n7))/(acetylcarnitine):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C2orf63 in normal prepouch ileum:Advanced age-related macular degeneration
2 55805440 2 PPP4R3B T C exonic nonsynonymous SNV PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V
2 61304271 1 KIAA1841 A G exonic synonymous SNV KIAA1841:NM_001330432:exon5:c.A210G:p.K70K,KIAA1841:NM_001129993:exon6:c.A648G:p.K216K,KIAA1841:NM_001330433:exon6:c.A648G:p.K216K,KIAA1841:NM_001330434:exon6:c.A648G:p.K216K,KIAA1841:NM_001330435:exon6:c.A648G:p.K216K,KIAA1841:NM_001330436:exon6:c.A648G:p.K216K,KIAA1841:NM_032506:exon6:c.A648G:p.K216K RS1729659 Gene expression of LOC339804 in CHB-JPT lymphoblastoid cell lines:Gene expression of LOC339803 [probe 227941_at] in lymphoblastoid cell lines:Schizophrenia:Total cholesterol:Gene expression of AHSA2 in peripheral blood monocytes:Gene expression of AHSA2 in blood
2 61522123 2 USP34 T C exonic synonymous SNV USP34:NM_014709:exon32:c.A4422G:p.E1474E RS13014347 Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:HDL cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria
2 61575308 2 USP34 A G exonic nonsynonymous SNV USP34:NM_014709:exon15:c.T1982C:p.M661T RS6722430 HDL cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
2 61577435 1 USP34 T C exonic synonymous SNV USP34:NM_014709:exon12:c.A1467G:p.A489A RS2166720 HDL cholesterol:Cystatin C in serum:Triglycerides:LDL cholesterol:Total cholesterol
2 62066927 2 FAM161A A G exonic synonymous SNV FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C RS4672457 LDL cholesterol change with statins:Height:Adiponectin levels
2 62069358 1 FAM161A T C exonic nonsynonymous SNV FAM161A:NM_001201543:exon2:c.A321G:p.I107M,FAM161A:NM_032180:exon2:c.A321G:p.I107M RS11125895 Serum creatinine:Gene expression of AHSA2 in peripheral blood monocytes:Hemoglobin (Hb):Neuroblastoma (brain cancer):Serum concentration of 7-methylxanthine:Type 2 diabetes:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Primary rhegmatogenous retinal detachment
2 62081012 2 FAM161A A C exonic synonymous SNV FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A RS4270331 LDL cholesterol change with statins:Adiponectin levels
2 68385097 2 PNO1 A G exonic nonsynonymous SNV PNO1:NM_001329916:exon1:c.A31G:p.R11G,PNO1:NM_001329917:exon1:c.A31G:p.R11G,PNO1:NM_020143:exon1:c.A31G:p.R11G RS2044693 Gene expression of probe 1565811_at in lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Systolic blood pressure (SBP)
2 69741854 2 AAK1 T G exonic nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q
2 71360144 2 MPHOSPH10 A C exonic nonsynonymous SNV MPHOSPH10:NM_005791:exon2:c.A206C:p.E69A RS10199088 Rheumatoid arthritis:Gene expression of NAGK in peripheral blood monocytes:Years of education:College completion
2 71360625 2 MPHOSPH10 G T exonic nonsynonymous SNV MPHOSPH10:NM_005791:exon2:c.G687T:p.E229D RS1813160 Differential exon level expression of MPHOSPH10 [probe 2488086] in brain cortex:Premature ovarian failure:Rheumatoid arthritis:HDL cholesterol:Gene expression of [probe 3450326 centered at chr2:71209246] in blood:Years of education:College completion:Gene expression of MCEE (ENSG00000124370) in dendritic cells:Primary rhegmatogenous retinal detachment:Gene expression of MPHOSPH10 (ENSG00000124383) in dendritic cells
2 71365676 2 MPHOSPH10 G A exonic synonymous SNV MPHOSPH10:NM_005791:exon5:c.G1155A:p.Q385Q
2 71417065 2 PAIP2B G T exonic synonymous SNV PAIP2B:NM_020459:exon3:c.C225A:p.P75P RS357777 Gene expression of DYSF in peripheral blood monocytes:Height:Serum concentration of myristate (14:0)
2 73478461 1 CCT7 A T exonic synonymous SNV CCT7:NM_001009570:exon6:c.A699T:p.A233A,CCT7:NM_001166284:exon9:c.A1050T:p.A350A,CCT7:NM_006429:exon11:c.A1311T:p.A437A,CCT7:NM_001166285:exon12:c.A1179T:p.A393A RS7851 Infant head circumference
2 73675669 2 ALMS1 T G exonic nonsynonymous SNV ALMS1:NM_015120:exon8:c.T2012G:p.V671G RS2037814 Waist hip ratio:Late onset Alzheimer's disease:Salmonella-induced pyroptosis
2 74725144 2 LBX2 T C exonic synonymous SNV LBX2:NM_001009812:exon2:c.A495G:p.E165E,LBX2:NM_001282430:exon2:c.A507G:p.E169E RS6546908 Body mass index (BMI):Aortic valve calcium
2 75113789 2 HK2 C G exonic synonymous SNV HK2:NM_000189:exon15:c.C2208G:p.P736P
2 75115108 2 HK2 A G exonic synonymous SNV HK2:NM_000189:exon16:c.A2298G:p.L766L RS10194657 Comorbid depressive syndrome and alcohol dependence
2 85553784 1 TGOLN2 C T exonic synonymous SNV TGOLN2:NM_001206841:exon2:c.G1071A:p.G357G,TGOLN2:NM_006464:exon2:c.G1071A:p.G357G,TGOLN2:NM_001206844:exon3:c.G897A:p.G299G RS1044973 Gene expression of TGOLN2 [probe 1554608_at] in lymphoblastoid cell lines:Gene expression of TGOLN2 [probe 212043_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:HDL cholesterol:Differential exon level expression of [probeset 2491522] in peripheral blood mononuclear cells:Total cholesterol change with statins:Rheumatoid arthritis:HDL cholesterol:Height:Serum concentration of 1-linoleoylglycerophosphoethanolamine*:Gene expression of TGOLN2 [probeset 1554608_at] in sputum:Gene expression of TGOLN2 [probeset 203834_s_at] in sputum:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
2 85554080 1 TGOLN2 G A exonic nonsynonymous SNV TGOLN2:NM_001206841:exon2:c.C775T:p.R259W,TGOLN2:NM_006464:exon2:c.C775T:p.R259W RS4247303 Amyotrophic lateral sclerosis (ALS):Gene expression of TGOLN2 [probe 212043_at] in lymphoblastoid cell lines:Gene expression of TGOLN2 [probe 1554608_at] in lymphoblastoid cell lines:Total cholesterol change with statins:Rheumatoid arthritis:HDL cholesterol:Height:Gene expression of TGOLN2///RETSAT in blood:Gene expression of RETSAT in blood:Gene expression of TGOLN2 [probeset 1554608_at] in sputum:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis:Gene expression of TCF7L1 (probeID ILMN_1733841) in cerebellum in Alzheimer's disease cases and controls:Bipolar disorder
2 85769711 1 MAT2A C G exonic synonymous SNV MAT2A:NM_005911:exon7:c.C792G:p.R264R RS1078004 Serum creatinine:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Refractive error
2 85780131 1 GGCX G A exonic synonymous SNV GGCX:NM_001142269:exon8:c.C1047T:p.R349R,GGCX:NM_000821:exon9:c.C1218T:p.R406R RS2592551 Gene expression of hmm28069 in CHB-JPT lymphoblastoid cell lines:Gene expression of VAMP8 [probe 202546_at] in lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:Adiponectin levels:Birth weight
2 85780536 1 GGCX C T exonic nonsynonymous SNV GGCX:NM_001142269:exon7:c.G803A:p.R268Q,GGCX:NM_000821:exon8:c.G974A:p.R325Q RS699664 Gene expression of hmm28069 in CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:Gene expression of COL13A1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Adiponectin levels:Birth weight:Gene expression of GGCX (ENSG00000115486) in dendritic cells
2 85781318 2 GGCX T G exonic synonymous SNV GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G
2 85806266 1 VAMP8 C T exonic synonymous SNV VAMP8:NM_003761:exon2:c.C138T:p.N46N RS3731828 Gene expression of hmm28069 in CHB-JPT lymphoblastoid cell lines:Gene expression of VAMP8 [probe 202546_at] in lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:Autism:Gene expression of VAMP8 in blood:Gene expression of MAT2A in blood:Gene expression of VAMP5 in blood:Gene expression of USP39 in blood:Gene expression of DPEP3 in blood:Refractive error:Birth weight:Aortic valve calcium:Adiponectin levels:Coronary artery disease (CAD)
2 85808737 1 VAMP8 A G exonic synonymous SNV VAMP8:NM_003761:exon3:c.A201G:p.R67R RS1009 Serum creatinine:Height:Body mass index (BMI):Bipolar disorder:Refractive error:Gene expression of VAMP5 (ENSG00000168899) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
2 85981761 1 ATOH8 T C exonic nonsynonymous SNV ATOH8:NM_032827:exon1:c.T449C:p.L150P
2 86315741 2 POLR1A C T exonic synonymous SNV POLR1A:NM_015425:exon6:c.G678A:p.T226T RS2288120 Gene expression of POLR1A in CHB-JPT lymphoblastoid cell lines:Rheumatoid arthritis:Waist hip ratio:Gene expression of POLR1A in normal prepouch ileum
2 86317037 2 POLR1A G C exonic nonsynonymous SNV POLR1A:NM_015425:exon4:c.C448G:p.P150A RS4832242 LDL cholesterol:Rheumatoid arthritis:Waist hip ratio
2 88425811 1 FABP1 C T exonic nonsynonymous SNV FABP1:NM_001443:exon2:c.G124A:p.V42M
2 95539307 2 TEKT4 A G exonic nonsynonymous SNV TEKT4:NM_144705:exon2:c.A541G:p.T181A
2 97166204 2 NEURL3 A G exonic synonymous SNV NEURL3:NM_001285485:exon2:c.T486C:p.Y162Y,NEURL3:NM_001285486:exon3:c.T12C:p.Y4Y
2 99778985 2 LIPT1 T C exonic synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L RS2632277 Type 1 diabetes, gender differentiated:Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 [probe 220623_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:HDL cholesterol:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Temporal cortex:Gene expression of TSGA10 in peripheral blood monocytes:Gene expression of MRPL30 in peripheral blood monocytes:Gene expression of REV1 in peripheral blood monocytes:Gene expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in peripheral blood monocytes:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or 6)])/(riboflavin (Vitamin B2)):Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of TSGA10 (probeID ILMN_1680430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal prepouch ileum
2 101010082 1 CHST10 G C exonic synonymous SNV CHST10:NM_004854:exon7:c.C696G:p.T232T RS3748930 Triglycerides change with statins:Height:Urinary albumin-to-creatinine ratio:PROP taste detection threshold:College completion
2 101624471 1 TBC1D8 T C exonic nonsynonymous SNV TBC1D8:NM_001102426:exon20:c.A3235G:p.R1079G,TBC1D8:NM_001330348:exon20:c.A3280G:p.R1094G RS746924 Schizophrenia:Serum ratio of (hyodeoxycholate)/(pyroglutamylglycine):Adiponectin levels
2 101638888 1 TBC1D8 A G exonic synonymous SNV TBC1D8:NM_001102426:exon16:c.T2571C:p.D857D,TBC1D8:NM_001330348:exon16:c.T2616C:p.D872D RS3739014 Schizophrenia:Serum ratio of (hyodeoxycholate)/(pyroglutamylglycine):Adiponectin levels
2 101656726 1 TBC1D8 T C exonic nonsynonymous SNV TBC1D8:NM_001102426:exon6:c.A949G:p.T317A,TBC1D8:NM_001330348:exon6:c.A994G:p.T332A RS2289953 Serum ratio of (hyodeoxycholate)/(pyroglutamylglycine):Resistance to kuru in aged women despite likely exposure:Adiponectin levels
2 102472459 1 MAP4K4 A G exonic synonymous SNV MAP4K4:NM_001242559:exon13:c.A1254G:p.E418E,MAP4K4:NM_001242560:exon13:c.A1254G:p.E418E,MAP4K4:NM_004834:exon13:c.A1254G:p.E418E,MAP4K4:NM_145686:exon13:c.A1254G:p.E418E,MAP4K4:NM_145687:exon13:c.A1254G:p.E418E RS1139583 Serum creatinine:Cystatin C in serum:Gene expression of IL1R2 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of education:Refractive error:Parkinson's disease
2 103334969 1 MFSD9 G A exonic synonymous SNV MFSD9:NM_001322080:exon6:c.C1152T:p.G384G,MFSD9:NM_001322081:exon6:c.C1152T:p.G384G,MFSD9:NM_032718:exon6:c.C1335T:p.G445G RS1052431 Schizophrenia:Premature ovarian failure:Serum creatinine:Asthma:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Gene expression of MFSD9 (ENSG00000135953) in dendritic cells treated with Mycobacterium tuberculosis
2 103431404 2 TMEM182 T C exonic nonsynonymous SNV TMEM182:NM_001321346:exon4:c.T241C:p.W81R,TMEM182:NM_001321345:exon5:c.T379C:p.W127R,TMEM182:NM_144632:exon5:c.T667C:p.W223R,TMEM182:NM_001321344:exon6:c.T538C:p.W180R,TMEM182:NM_001321343:exon7:c.T538C:p.W180R RS887987 LDL cholesterol:Rheumatoid arthritis:Comorbid depressive syndrome and alcohol dependence
2 109099572 2 GCC2 C G exonic nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E
2 109389463 2 RANBP2 G A exonic synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E
2 109429146 2 CCDC138 T A exonic synonymous SNV CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A
2 110372192 2 SOWAHC A G exonic synonymous SNV SOWAHC:NM_023016:exon1:c.A126G:p.L42L
2 111907691 2 BCL2L11 T C exonic synonymous SNV BCL2L11:NM_001204106:exon3:c.T195C:p.I65I,BCL2L11:NM_001204107:exon3:c.T195C:p.I65I,BCL2L11:NM_001204108:exon3:c.T465C:p.I155I,BCL2L11:NM_001204110:exon3:c.T195C:p.I65I,BCL2L11:NM_138621:exon3:c.T465C:p.I155I,BCL2L11:NM_138622:exon3:c.T465C:p.I155I,BCL2L11:NM_207003:exon3:c.T195C:p.I65I,BCL2L11:NM_006538:exon4:c.T285C:p.I95I,BCL2L11:NM_138623:exon4:c.T285C:p.I95I RS724710 Longstanding arthritis:Rheumatoid arthritis:B-cell chronic lymphocytic leukemia:Premature ovarian failure:Serum creatinine:Gene expression of BCL2L11 in peripheral blood monocytes:Asthma:Serum ratio of (2-linoleoylglycerophosphoethanolamine*)/(beta-hydroxyisovalerate):Diastolic blood pressure (DBP):Primary sclerosing cholangitis:Maternal transmission distortion
2 112536264 2 ANAPC1 G T exonic synonymous SNV ANAPC1:NM_022662:exon45:c.C5373A:p.I1791I
2 112588914 1 ANAPC1 T C exonic synonymous SNV ANAPC1:NM_022662:exon21:c.A2574G:p.P858P
2 112588926 1 ANAPC1 A G exonic synonymous SNV ANAPC1:NM_022662:exon21:c.T2562C:p.G854G
2 112592207 1 ANAPC1 A G exonic synonymous SNV ANAPC1:NM_022662:exon19:c.T2358C:p.L786L
2 112592265 1 ANAPC1 T C exonic nonsynonymous SNV ANAPC1:NM_022662:exon19:c.A2300G:p.H767R
2 112592412 1 ANAPC1 T C exonic nonsynonymous SNV ANAPC1:NM_022662:exon19:c.A2153G:p.N718S
2 113090047 2 ZC3H6 T C exonic synonymous SNV ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T RS4578863 Major depressive disorder (broad definition):Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition) (males):HOMA-B:Fasting insulin:HOMA-IR:Years of education:College completion:Birth weight
2 113308516 1 POLR1B T A exonic synonymous SNV POLR1B:NM_001282776:exon2:c.T66A:p.T22T,POLR1B:NM_001137604:exon4:c.T531A:p.T177T,POLR1B:NM_001282774:exon5:c.T699A:p.T233T,POLR1B:NM_001282779:exon5:c.T282A:p.T94T,POLR1B:NM_019014:exon5:c.T699A:p.T233T,POLR1B:NM_001282772:exon6:c.T813A:p.T271T,POLR1B:NM_001282777:exon6:c.T282A:p.T94T RS2304555 Simpson-Angus Scale:2 hour glucose:Chronic kidney disease:PROP taste detection threshold:Birth weight
2 113309473 1 POLR1B C T exonic nonsynonymous SNV POLR1B:NM_001282776:exon3:c.C251T:p.S84L,POLR1B:NM_001137604:exon5:c.C716T:p.S239L,POLR1B:NM_001282774:exon6:c.C884T:p.S295L,POLR1B:NM_001282779:exon6:c.C467T:p.S156L,POLR1B:NM_019014:exon6:c.C884T:p.S295L,POLR1B:NM_001282772:exon7:c.C998T:p.S333L,POLR1B:NM_001282777:exon7:c.C467T:p.S156L RS1545133 Simpson-Angus Scale:Gene expression of SMAD3 in peripheral blood monocytes:Gene expression of ZNF410 in peripheral blood monocytes:Gene expression of ANGEL1 in peripheral blood monocytes:Gene expression of VPS45 in peripheral blood monocytes:Gene expression of POLR1B in normal prepouch ileum:Birth weight
2 113513825 2 CKAP2L T C exonic nonsynonymous SNV CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,CKAP2L:NM_152515:exon4:c.A1123G:p.I375V RS6731822 Total cholesterol:Diastolic blood pressure (DBP)
2 118583940 1 DDX18 C T exonic synonymous SNV DDX18:NM_006773:exon11:c.C1617T:p.R539R RS2303348 Total cholesterol change with statins:HDL cholesterol:Years of education
2 118893413 2
2 120438696 2 TMEM177 A G exonic synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q
2 128870808 2 UGGT1 T C exonic synonymous SNV UGGT1:NM_020120:exon6:c.T672C:p.N224N RS4662775 LDL cholesterol
2 128878014 2 UGGT1 G A exonic synonymous SNV UGGT1:NM_020120:exon9:c.G957A:p.K319K
2 129075961 2 HS6ST1 T C exonic synonymous SNV HS6ST1:NM_004807:exon1:c.A177G:p.T59T
2 130925088 1 SMPD4 C T exonic synonymous SNV SMPD4:NM_001171083:exon7:c.G633A:p.T211T,SMPD4:NM_017751:exon9:c.G852A:p.T284T,SMPD4:NM_017951:exon9:c.G852A:p.T284T
2 135911422 2 RAB3GAP1 T C exonic synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F RS17261772 LDL cholesterol:Fasting insulin:Serum creatinine:Cystatin C in serum:HDL cholesterol:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 152138522 1 NMI T C exonic synonymous SNV NMI:NM_004688:exon3:c.A117G:p.Q39Q RS3771886 Differential exon level expression of NMI [probe 2580969] in peripheral blood mononuclear cells:Triglycerides change with statins:Triglycerides:HDL cholesterol:Body mass index (BMI):Gene expression of TNFAIP6 in blood:Gene expression of RBM43 in blood:Gene expression of NMI in blood:Gene expression of NMI in normal prepouch ileum
2 153041544 2
2 158626980 2 ACVR1 C T exonic synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E RS1146031 Polycystic ovary syndrome
2 160019863 2 TANC1 A G exonic nonsynonymous SNV TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_001350064:exon8:c.A752G:p.N251S,TANC1:NM_033394:exon8:c.A752G:p.N251S,TANC1:NM_001350065:exon9:c.A752G:p.N251S
2 160035207 2 TANC1 T C exonic synonymous SNV TANC1:NM_001350062:exon11:c.T1440C:p.N480N,TANC1:NM_001350063:exon12:c.T1674C:p.N558N,TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_001350064:exon14:c.T2022C:p.N674N,TANC1:NM_033394:exon14:c.T2043C:p.N681N,TANC1:NM_001350065:exon15:c.T2022C:p.N674N
2 160086653 1 TANC1 C T exonic synonymous SNV TANC1:NM_001350062:exon24:c.C4113T:p.A1371A,TANC1:NM_001350063:exon25:c.C4347T:p.A1449A,TANC1:NM_001350064:exon27:c.C4695T:p.A1565A,TANC1:NM_033394:exon27:c.C4716T:p.A1572A,TANC1:NM_001350065:exon28:c.C4695T:p.A1565A RS4664277 Stabilized warfarin dose:Gene expression of WDSUB1 [probe ILMN_9810] in osteoblasts:Partial epilepsy:Gene expression of WDSUB1 [probe ILMN_9810] in untreated osteoblasts:Gene expression of WDSUB1 in blood:Hypertension (early onset hypertension)
2 160086654 1 TANC1 A G exonic nonsynonymous SNV TANC1:NM_001350062:exon24:c.A4114G:p.T1372A,TANC1:NM_001350063:exon25:c.A4348G:p.T1450A,TANC1:NM_001350064:exon27:c.A4696G:p.T1566A,TANC1:NM_033394:exon27:c.A4717G:p.T1573A,TANC1:NM_001350065:exon28:c.A4696G:p.T1566A
2 160086692 1 TANC1 A G exonic synonymous SNV TANC1:NM_001350062:exon24:c.A4152G:p.T1384T,TANC1:NM_001350063:exon25:c.A4386G:p.T1462T,TANC1:NM_001350064:exon27:c.A4734G:p.T1578T,TANC1:NM_033394:exon27:c.A4755G:p.T1585T,TANC1:NM_001350065:exon28:c.A4734G:p.T1578T RS3821296 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
2 160136337 2 WDSUB1 G A exonic nonsynonymous SNV WDSUB1:NM_001330279:exon2:c.C11T:p.P4L,WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_001307994:exon3:c.C518T:p.P173L,WDSUB1:NM_001330274:exon3:c.C518T:p.P173L,WDSUB1:NM_001330276:exon3:c.C518T:p.P173L,WDSUB1:NM_001330277:exon3:c.C257T:p.P86L,WDSUB1:NM_001330278:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L
2 160182302 1 BAZ2B C T exonic nonsynonymous SNV BAZ2B:NM_001289975:exon34:c.G5963A:p.S1988N,BAZ2B:NM_001329857:exon35:c.G6014A:p.S2005N,BAZ2B:NM_001329858:exon35:c.G5996A:p.S1999N,BAZ2B:NM_013450:exon35:c.G6071A:p.S2024N RS415793 Premature ovarian failure:Sporadic Creutzfeldt-Jakob disease
2 160604812 1 7-Mar C T exonic synonymous SNV MARCH7:NM_001282806:exon4:c.C843T:p.P281P,MARCH7:NM_001282807:exon4:c.C897T:p.P299P,MARCH7:NM_022826:exon5:c.C1011T:p.P337P,MARCH7:NM_001282805:exon7:c.C1011T:p.P337P RS1427329 Abnormal Involuntary Movement Scale:LDL cholesterol change with statins:Lp-PLA2 mass:Rheumatoid arthritis:Methylation levels at chr2:160363232-160363282 [hg18 coord, probe cg15352315] in Cerebellum:Gene expression of 40609 in peripheral blood monocytes:Gene expression of WDSUB1 in peripheral blood monocytes:Gene expression of BAZ2B in peripheral blood monocytes:Serum ratio of (gamma-glutamylvaline)/(succinylcarnitine):PROP taste detection threshold:Transmission distortion:Maternal transmission distortion
2 160605268 2 7-Mar T C exonic synonymous SNV MARCH7:NM_001282806:exon4:c.T1299C:p.P433P,MARCH7:NM_001282807:exon4:c.T1353C:p.P451P,MARCH7:NM_022826:exon5:c.T1467C:p.P489P,MARCH7:NM_001282805:exon7:c.T1467C:p.P489P RS1365803 Serum creatinine:Chronic kidney disease:Autism:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:College completion
2 165476253 2 GRB14 A T exonic nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I
2 166788336 2 TTC21B T C exonic nonsynonymous SNV TTC21B:NM_024753:exon8:c.A826G:p.T276A
2 166797646 2 TTC21B C T exonic nonsynonymous SNV TTC21B:NM_024753:exon6:c.G601A:p.V201M RS1432273 Spine bone mineral density (BMD):Total cholesterol:Chronic kidney disease:Partial epilepsy:Late onset Alzheimer's disease:Serum ratio of (1-arachidonoylglycerophosphocholine*)/(1-eicosatrienoylglycerophosphocholine*):Age at death with kuru exposure
2 170605981 2 KLHL23;PHOSPHO2-KLHL23 C T exonic synonymous SNV KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G
2 171822466 2 GORASP2 C T exonic synonymous SNV GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S RS4668356 Hip bone mineral density (BMD):Paired associates learning total errors 8 patterns:HOMA-IR:Exceptional Longevity:Body mass index (BMI):Serum ratio of (glycine)/(n-Butyl Oleate):Tourette's syndrome:Primary rhegmatogenous retinal detachment
2 172180771 2 METTL8 A G exonic unknown UNKNOWN
2 172725301 2 SLC25A12 A G exonic synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y RS1878583 Xylose:trans-Aconitate:Serum ratio of (arabinose)/(indolepropionate):Serum ratio of (1-stearoylglycerol (1-monostearin))/(1,7-dimethylurate):Hypertension (early onset hypertension):Transmission distortion:Maternal transmission distortion:Obesity with early age of onset (age >2)
2 180810264 2 CWC22 A T exonic nonsynonymous SNV CWC22:NM_020943:exon20:c.T2319A:p.S773R RS6433818 Birth weight:Infant head circumference
2 180835792 2 CWC22 T A exonic synonymous SNV CWC22:NM_020943:exon9:c.A816T:p.V272V RS3768837 Birth weight
2 187532417 2 ITGAV G A exonic nonsynonymous SNV ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I
2 189875421 2 COL3A1 T G exonic nonsynonymous SNV COL3A1:NM_000090:exon50:c.T4059G:p.H1353Q
2 190323530 1 WDR75 A G exonic synonymous SNV WDR75:NM_032168:exon7:c.A621G:p.T207T,WDR75:NM_001303096:exon8:c.A429G:p.T143T RS1157910 Bipolar disorder:Infant head circumference:Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus
2 190531426 2 ASNSD1 G A exonic nonsynonymous SNV ASNSD1:NM_019048:exon4:c.G568A:p.G190R RS1437880 Salmonella-induced pyroptosis
2 190617643 2 OSGEPL1 A G exonic synonymous SNV OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N
2 191161622 2 HIBCH T C exonic nonsynonymous SNV HIBCH:NM_014362:exon3:c.A136G:p.T46A,HIBCH:NM_198047:exon3:c.A136G:p.T46A RS1058180 Gene expression of INPP1 [probe 202794_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Triglycerides:LDL cholesterol change with statins:Triglycerides:Gene expression of HIBCH in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene expression of MFSD6 in blood:Gene expression of HIBCH in blood:Gene expression of INPP1 in blood:Serum concentration of 1-linoleoylglycerol (1-monolinolein):Resistance to kuru in aged women despite likely exposure:Gene expression of HIBCH in liver:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Alzheimer's disease cases and controls:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in Alzheimer's disease cases:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of HIBCH in normal prepouch ileum:Aortic valve calcium:Gene expression of INPP1 (probeID ILMN_1667239) in cerebellum in non-Alzheimer's disease samples
2 191231458 2 INPP1 G A exonic synonymous SNV INPP1:NM_002194:exon4:c.G303A:p.E101E,INPP1:NM_001128928:exon5:c.G303A:p.E101E RS11544940 Chronic kidney disease:Gene expression of HIBCH in peripheral blood monocytes:Triglycerides:Serum ratio of (3-methylxanthine)/(p-cresol sulfate)
2 191235901 2 INPP1 A C exonic synonymous SNV INPP1:NM_002194:exon6:c.A973C:p.R325R,INPP1:NM_001128928:exon7:c.A973C:p.R325R RS1882891 Diastolic blood pressure (DBP):Birth weight
2 192160875 2 MYO1B C T exonic synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y RS4853575 Gene expression of MYO1B [probe 212365_at] in lymphoblastoid cell lines:Gene expression of MYO1B [probe 212364_at] in lymphoblastoid cell lines:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:LDL cholesterol:Serum concentration of glucose:Serum ratio of (phenol sulfate)/(pyroglutamylglycine):Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
2 192701393 1 CAVIN2 A G exonic synonymous SNV CAVIN2:NM_004657:exon2:c.T534C:p.G178G RS10167187 Rheumatoid arthritis:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Infant head circumference
2 200790216 1 C2orf69 C T exonic synonymous SNV C2orf69:NM_153689:exon2:c.C765T:p.D255D
2 200813126 1 TYW5 T C exonic nonsynonymous SNV TYW5:NM_001039693:exon2:c.A148G:p.S50G RS10497844 Serum creatinine:Chronic kidney disease:Gene expression of RAD50 in peripheral blood monocytes:Triglycerides:Microalbuminuria:Serum ratio of (1-palmitoylglycerol (1-monopalmitin))/(pantothenate):Mitral annular calcium:Parkinson's disease
2 201354935 1 KCTD18 C G exonic nonsynonymous SNV KCTD18:NM_001321547:exon7:c.G1169C:p.C390S,KCTD18:NM_001321548:exon7:c.G542C:p.C181S,KCTD18:NM_001321550:exon7:c.G542C:p.C181S,KCTD18:NM_152387:exon7:c.G1169C:p.C390S
2 201437214 1 SGO2 A G exonic synonymous SNV SGO2:NM_001160033:exon7:c.A2145G:p.K715K,SGO2:NM_001160046:exon7:c.A2145G:p.K715K,SGO2:NM_152524:exon7:c.A2145G:p.K715K RS17532679 HDL cholesterol:Serum concentration of citrulline
2 201437334 2 SGO2 T C exonic synonymous SNV SGO2:NM_001160033:exon7:c.T2265C:p.P755P,SGO2:NM_001160046:exon7:c.T2265C:p.P755P,SGO2:NM_152524:exon7:c.T2265C:p.P755P
2 202122995 2 CASP8 A G exonic nonsynonymous SNV CASP8:NM_001080125:exon1:c.A41G:p.K14R RS3769823 LDL cholesterol:Triglycerides:Serum creatinine:Triglycerides:Gene expression of ALS2CR2 in blood:Gene expression of CFLAR in blood:Gene expression of CASP8 [probeset 1553306_at] in sputum:Years of education:College completion:Mitral annular calcium:Post-traumatic stress disorder (PTSD)
2 202252539 1 TRAK2 G A exonic nonsynonymous SNV TRAK2:NM_015049:exon13:c.C1583T:p.T528I RS2244438 Alcohol dependence (early age of onset):Alcohol dependence:Partial epilepsy:LDL cholesterol:Total cholesterol:Gene expression of ALS2CR2 in blood:Comorbid depressive syndrome and alcohol dependence:Obesity with early age of onset (age >2):College completion
2 202260049 2 TRAK2 G A exonic synonymous SNV TRAK2:NM_015049:exon8:c.C888T:p.H296H
2 202337730 1 STRADB A G exonic synonymous SNV STRADB:NM_001206864:exon5:c.A246G:p.T82T,STRADB:NM_018571:exon5:c.A246G:p.T82T RS1019299 LDL cholesterol:Total cholesterol:Obesity with early age of onset (age >2):College completion
2 202575821 2 ALS2 G A exonic synonymous SNV ALS2:NM_020919:exon26:c.C4015T:p.L1339L RS3219168 LDL cholesterol change with statins:Obesity with early age of onset (age >2):Birth weight:Infant head circumference
2 202625615 2 ALS2 C T exonic nonsynonymous SNV ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M RS3219156 HDL cholesterol:Asthma:Serum concentration of glycerol:Sporadic Creutzfeldt-Jakob disease:Birth weight
2 204062061 2 NBEAL1 A G exonic nonsynonymous SNV NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V RS4675323 Cystatin C in serum:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 205829991 2 PARD3B C T exonic synonymous SNV PARD3B:NM_001302769:exon3:c.C339T:p.A113A,PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A RS236843 Rheumatoid arthritis:Partial epilepsy:Tetrology of fallot
2 206364737 2 PARD3B T C exonic synonymous SNV PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S,PARD3B:NM_001302769:exon21:c.T3162C:p.S1054S
2 206581033 2 NRP2 G A exonic nonsynonymous SNV NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K
2 206608039 2 NRP2 T C exonic synonymous SNV NRP2:NM_003872:exon9:c.T1404C:p.V468V,NRP2:NM_018534:exon9:c.T1404C:p.V468V,NRP2:NM_201264:exon9:c.T1404C:p.V468V,NRP2:NM_201266:exon9:c.T1404C:p.V468V,NRP2:NM_201267:exon9:c.T1404C:p.V468V,NRP2:NM_201279:exon9:c.T1404C:p.V468V
2 207006676 1 NDUFS1 T C exonic synonymous SNV NDUFS1:NM_001199982:exon9:c.A918G:p.R306R,NDUFS1:NM_001199981:exon11:c.A1143G:p.R381R,NDUFS1:NM_001199983:exon11:c.A1080G:p.R360R,NDUFS1:NM_001199984:exon12:c.A1293G:p.R431R,NDUFS1:NM_005006:exon12:c.A1251G:p.R417R RS1801318 Amyotrophic lateral sclerosis (ALS) age of onset:Amyotrophic lateral sclerosis (ALS):Gene expression of EEF1B2 (ENSG00000114942) in dendritic cells:Gene expression of INO80D (ENSG00000114933) in dendritic cells:Refractive error
2 207008763 1 NDUFS1 C A exonic synonymous SNV NDUFS1:NM_001199982:exon7:c.G633T:p.A211A,NDUFS1:NM_001199981:exon9:c.G858T:p.A286A,NDUFS1:NM_001199983:exon9:c.G795T:p.A265A,NDUFS1:NM_001199984:exon10:c.G1008T:p.A336A,NDUFS1:NM_005006:exon10:c.G966T:p.A322A RS1127566 Rheumatoid arthritis
2 207988613 2 KLF7 C T exonic synonymous SNV KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L
2 208477852 2 METTL21A G A exonic nonsynonymous SNV METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_001330130:exon4:c.C575T:p.T192I,METTL21A:NM_001330134:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I,METTL21A:NM_001330137:exon5:c.C629T:p.T210I RS2551949 Gene expression of FAM119A [probe 235177_at] in lymphoblastoid cell lines:Gene expression of FAM119A [probe 235931_at] in lymphoblastoid cell lines:Major depressive disorder:Serum creatinine:Rheumatoid arthritis:Gene expression of CREB1 in CD4+ lymphocytes:Gene expression of CREB1 [probe ILMN_4653] in untreated osteoblasts:Gene expression of FAM119A in liver:Serum ratio of (hexadecanedioate)/(taurodeoxycholate):Serum concentration of glycine:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of FAM119A [probeset 235931_at] in sputum:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Alzheimer's disease cases:Gene expression of CCNYL1 (ENSG00000163249) in dendritic cells:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Alzheimer's disease cases:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in non-Alzheimer's disease samples:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CCNYL1 (ENSG00000163249) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of FAM119A (probeID ILMN_2049364) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAM119A (probeID ILMN_2049364) in temporal cortex in Alzheimer's disease cases and controls
2 208477956 2 METTL21A C T exonic synonymous SNV METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330130:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330134:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330137:exon5:c.G525A:p.Q175Q RS2709416 Rheumatoid arthritis:Serum ratio of (hexadecanedioate)/(taurodeoxycholate):Fasting insulin:HOMA-IR
2 208633413 2 FZD5 T C exonic synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L
2 208841964 1 PLEKHM3 A G exonic synonymous SNV PLEKHM3:NM_001080475:exon3:c.T957C:p.N319N
2 209184999 2 PIKFYVE C T exonic synonymous SNV PIKFYVE:NM_015040:exon17:c.C2106T:p.P702P
2 209190330 2 PIKFYVE T C exonic nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T2795C:p.L932S
2 209190519 2 PIKFYVE A T exonic nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.A2984T:p.Q995L
2 209190528 2 PIKFYVE C G exonic nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C2993G:p.T998S
2 209191082 2 PIKFYVE C A exonic nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C3547A:p.Q1183K
2 209191099 2 PIKFYVE T C exonic synonymous SNV PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N
2 209212707 2 PIKFYVE G A exonic synonymous SNV PIKFYVE:NM_015040:exon35:c.G5334A:p.T1778T RS2304545 Microalbuminuria:Salmonella-induced pyroptosis
2 209215586 2 PIKFYVE A G exonic synonymous SNV PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E
2 214142447 1 LOC100130451 G A exonic synonymous SNV LOC100130451:NM_001242575:exon3:c.C429T:p.C143C
2 214142480 2 LOC100130451 T A exonic synonymous SNV LOC100130451:NM_001242575:exon3:c.A396T:p.T132T
2 215632255 1 BARD1 C T exonic nonsynonymous SNV BARD1:NM_001282543:exon5:c.G1462A:p.V488M,BARD1:NM_000465:exon6:c.G1519A:p.V507M RS2070094 High-risk neuroblastoma:Microalbuminuria
2 215632256 2 BARD1 A G exonic synonymous SNV BARD1:NM_001282543:exon5:c.T1461C:p.H487H,BARD1:NM_000465:exon6:c.T1518C:p.H506H RS2070093 Cystatin C in serum:Microalbuminuria:Advanced age-related macular degeneration:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy)
2 215645464 1 BARD1 C G exonic nonsynonymous SNV BARD1:NM_001282543:exon3:c.G1077C:p.R359S,BARD1:NM_000465:exon4:c.G1134C:p.R378S RS2229571 High-risk neuroblastoma:Serum creatinine
2 215674224 1 BARD1 G A exonic nonsynonymous SNV BARD1:NM_000465:exon1:c.C70T:p.P24S,BARD1:NM_001282543:exon1:c.C70T:p.P24S,BARD1:NM_001282545:exon1:c.C70T:p.P24S,BARD1:NM_001282548:exon1:c.C70T:p.P24S,BARD1:NM_001282549:exon1:c.C70T:p.P24S RS1048108 HDL cholesterol:Triglycerides:High-risk neuroblastoma:Triglycerides change with statins:Rheumatoid arthritis:Birth weight
2 216235089 2 FN1 C T exonic nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I
2 216249587 2 FN1 C T exonic synonymous SNV FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E RS13652 Hip bone mineral density (BMD):HOMA-B:Microalbuminuria:Late onset Alzheimer's disease
2 218683154 1 TNS1 A G exonic nonsynonymous SNV TNS1:NM_001308023:exon21:c.T3526C:p.W1176R,TNS1:NM_001308022:exon22:c.T3550C:p.W1184R,TNS1:NM_022648:exon24:c.T3589C:p.W1197R RS2571445 Spine bone mineral density (BMD):Lung function, forced expiratory volume in 1 second (FEV1):Lung function, forced vital capacity (FVC):Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Lung function, forced expiratory volume in 1 second (FEV1), in ever smokers:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC), in ever smokers:Lung function, forced expiratory volume in 1 second (FEV1), in nonsmokers (never smokers):HDL cholesterol:Body mass index (BMI):Gene expression of TNS1 in blood:Serum ratio of (1,3,7-trimethylurate)/(glycocholate):Systolic blood pressure (SBP):Lung function, forced expiratory volume in 1 second (FEV1):Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Lung function, forced expiratory volume in 1 second (FEV1) in ever smokers:Paternal transmission distortion:Coronary artery disease (CAD):Hypertension (early onset hypertension)
2 218712606 1 TNS1 G A exonic synonymous SNV TNS1:NM_001308022:exon16:c.C2259T:p.S753S,TNS1:NM_001308023:exon16:c.C2259T:p.S753S,TNS1:NM_022648:exon17:c.C2259T:p.S753S
2 218713282 1 TNS1 G A exonic nonsynonymous SNV TNS1:NM_001308022:exon16:c.C1583T:p.T528I,TNS1:NM_001308023:exon16:c.C1583T:p.T528I,TNS1:NM_022648:exon17:c.C1583T:p.T528I RS3796033 Differential exon level expression of TNS1 [probe 2599197] in brain cortex:Gene expression of TNS1 in blood:Diastolic blood pressure (DBP):Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment
2 219144815 2 TMBIM1 T C exonic synonymous SNV TMBIM1:NM_001321428:exon3:c.A237G:p.A79A,TMBIM1:NM_001321432:exon3:c.A237G:p.A79A,TMBIM1:NM_022152:exon3:c.A237G:p.A79A,TMBIM1:NM_001321427:exon4:c.A237G:p.A79A,TMBIM1:NM_001321429:exon4:c.A237G:p.A79A,TMBIM1:NM_001321430:exon4:c.A237G:p.A79A,TMBIM1:NM_001321433:exon4:c.A237G:p.A79A,TMBIM1:NM_001321435:exon4:c.A237G:p.A79A,TMBIM1:NM_001321436:exon4:c.A237G:p.A79A
2 219319657 2 USP37 A G exonic nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S
2 219509618 1 ZNF142 C A exonic nonsynonymous SNV ZNF142:NM_001105537:exon8:c.G1621T:p.A541S RS2230115 Gene expression of RQCD1 [probe 213098_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe 213179_at] in lymphoblastoid cell lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Adiponectin levels
2 219602499 1 TTLL4 G C exonic nonsynonymous SNV TTLL4:NM_014640:exon3:c.G100C:p.E34Q RS3731877 Gene expression of RQCD1 [probe 213179_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe 213098_at] in lymphoblastoid cell lines:HOMA-B:Triglycerides:Height:Body mass index (BMI):Refractive error:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 219602819 1 TTLL4 G A exonic synonymous SNV TTLL4:NM_014640:exon3:c.G420A:p.P140P RS3731876 Triglycerides:Height:Body mass index (BMI):Gene expression of CYP27A1 (probeID ILMN_1704985) in whole blood:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of TTLL4 in normal prepouch ileum:Obesity with early age of onset (age >2)
2 219610433 1 TTLL4 A G exonic synonymous SNV TTLL4:NM_014640:exon7:c.A1806G:p.E602E RS586194 Gene expression of RQCD1 [probe 213098_at] in lymphoblastoid cell lines:Gene expression of RQCD1 [probe 213179_at] in lymphoblastoid cell lines:Triglycerides:Height:Body mass index (BMI):Refractive error:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight:Gene expression of CYP27A1 (probeID ILMN_1704985) in whole blood:Gene expression of TTLL4 in normal prepouch ileum
2 219920037 2 IHH A G exonic synonymous SNV IHH:NM_002181:exon3:c.T1128C:p.T376T RS394452 Rheumatoid arthritis:Diastolic blood pressure (DBP):Years of education
2 220037393 2 CNPPD1 A G exonic nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T1148C:p.L383P,CNPPD1:NM_001321389:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321390:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321391:exon9:c.T1148C:p.L383P
2 220085845 2 ATG9A A G exonic synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T RS2276633 Triglycerides:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 220113242 2 STK16 T G exonic synonymous SNV STK16:NM_001330214:exon6:c.T783G:p.L261L,STK16:NM_001330215:exon6:c.T525G:p.L175L,STK16:NM_001008910:exon8:c.T879G:p.L293L,STK16:NM_001330213:exon8:c.T879G:p.L293L
2 220404381 2 CHPF A G exonic synonymous SNV CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y
2 220405321 2 CHPF T C exonic nonsynonymous SNV CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R RS6436155 Cystatin C in serum
2 220406722 2 CHPF T C exonic synonymous SNV CHPF:NM_001195731:exon2:c.A18G:p.L6L,CHPF:NM_024536:exon2:c.A504G:p.L168L
2 220412256 2 TMEM198 T C exonic synonymous SNV TMEM198:NM_001005209:exon3:c.T195C:p.F65F,TMEM198:NM_001303098:exon4:c.T195C:p.F65F
2 220414016 2 TMEM198 C T exonic synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D
2 220420956 2 OBSL1 A G exonic synonymous SNV OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D
2 220421417 2 OBSL1 C G exonic nonsynonymous SNV OBSL1:NM_001173431:exon13:c.G4095C:p.E1365D,OBSL1:NM_015311:exon13:c.G4095C:p.E1365D RS1983210 LDL cholesterol:Total cholesterol change with statins:Triglycerides:LDL cholesterol:Gene expression of CHPF in normal prepouch ileum:Coronary artery disease (CAD)
2 220430203 2 OBSL1 C T exonic nonsynonymous SNV OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K RS1039898 Total cholesterol:HDL cholesterol:Height:Neuroblastoma (brain cancer):Serum concentration of 1-myristoylglycerophosphocholine
2 220435034 2 OBSL1 A G exonic synonymous SNV OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L RS10180675 Total cholesterol
2 220435375 1 OBSL1 G A exonic synonymous SNV OBSL1:NM_001173408:exon1:c.C580T:p.L194L,OBSL1:NM_001173431:exon1:c.C580T:p.L194L,OBSL1:NM_015311:exon1:c.C580T:p.L194L
2 220476443 2 STK11IP C T exonic nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2222T:p.S741F RS627530 Triglycerides
2 228194480 1 MFF A T exonic nonsynonymous SNV MFF:NM_001277061:exon3:c.A19T:p.S7C,MFF:NM_020194:exon3:c.A19T:p.S7C
2 228194481 1 MFF G T exonic nonsynonymous SNV MFF:NM_001277061:exon3:c.G20T:p.S7I,MFF:NM_020194:exon3:c.G20T:p.S7I RS3211098 Stabilized warfarin dose:Differential exon level expression of C2orf33 [probe 2530550] in peripheral blood mononuclear cells:Differential exon level expression of C2orf33 [probe 2530550] in brain cortex:Gene expression of MFF (probeID ILMN_2198408) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MFF (probeID ILMN_2198408) in cerebellum in non-Alzheimer's disease samples:Gene expression of MFF (probeID ILMN_2198408) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MFF (probeID ILMN_2198408) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MFF (probeID ILMN_2198408) in temporal cortex in Alzheimer's disease cases:Gene expression of MFF (probeID ILMN_2198408) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of MFF (probeID ILMN_2198408) in cerebellum in Alzheimer's disease cases
2 228416712 1 AGFG1 A G exonic synonymous SNV AGFG1:NM_001135189:exon10:c.A1296G:p.T432T,AGFG1:NM_001135188:exon11:c.A1416G:p.T472T,AGFG1:NM_004504:exon11:c.A1416G:p.T472T,AGFG1:NM_001135187:exon12:c.A1488G:p.T496T RS13426457 2 hour glucose:HOMA-IR
2 231077725 2 SP110 A G exonic nonsynonymous SNV SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R RS1129411 Paternal transmission distortion
2 231331896 1 SP100 G A exonic synonymous SNV SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S RS1050224 LDL cholesterol change with statins:Total cholesterol change with statins:Salmonella-induced pyroptosis:Parkinson's disease
2 232087474 2 ARMC9 A G exonic nonsynonymous SNV ARMC9:NM_001291656:exon6:c.A538G:p.I180V,ARMC9:NM_025139:exon6:c.A538G:p.I180V
2 232087475 2 ARMC9 T A exonic nonsynonymous SNV ARMC9:NM_001291656:exon6:c.T539A:p.I180K,ARMC9:NM_025139:exon6:c.T539A:p.I180K
2 232326417 1 NCL C T exonic synonymous SNV NCL:NM_005381:exon3:c.G447A:p.E149E RS1131171 Bipolar disorder:Arthritis including non-Rheumatoid:Gene expression of C2orf52 [probe 2603531] in brain cortex:Height:Waist hip ratio:Bipolar disorder:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference
2 233413101 1 TIGD1 A G exonic synonymous SNV TIGD1:NM_145702:exon1:c.T1492C:p.L498L
2 233413109 1 TIGD1 T G exonic nonsynonymous SNV TIGD1:NM_145702:exon1:c.A1484C:p.Y495S
2 233413165 1 TIGD1 T A exonic synonymous SNV TIGD1:NM_145702:exon1:c.A1428T:p.T476T
2 233413771 1 TIGD1 C T exonic synonymous SNV TIGD1:NM_145702:exon1:c.G822A:p.A274A RS6752614 Myopia
2 233413920 1 TIGD1 C T exonic nonsynonymous SNV TIGD1:NM_145702:exon1:c.G673A:p.A225T
2 233414341 1 TIGD1 C T exonic synonymous SNV TIGD1:NM_145702:exon1:c.G252A:p.K84K RS4973540 Myopia
2 233708806 2 GIGYF2 A G exonic synonymous SNV GIGYF2:NM_001103148:exon23:c.A2922G:p.Q974Q,GIGYF2:NM_001103146:exon24:c.A2940G:p.Q980Q,GIGYF2:NM_001103147:exon26:c.A3003G:p.Q1001Q,GIGYF2:NM_015575:exon26:c.A2940G:p.Q980Q RS3816334 Methylation levels at chr2:233443261-233443311 [hg18 coord, probe cg13047596] in Temporal cortex:Methylation levels at chr2:233443261-233443311 [hg18 coord, probe cg13047596] in Frontal cortex:Height:Comorbid depressive syndrome and alcohol dependence:Gene expression of KCNJ13 in normal prepouch ileum
2 234449316 2 USP40 G A exonic synonymous SNV USP40:NM_018218:exon9:c.C1195T:p.L399L RS2167884 HDL cholesterol:HDL cholesterol
2 234622360 2 UGT1A5 A G exonic synonymous SNV UGT1A5:NM_019078:exon1:c.A723G:p.R241R
2 234761225 2 HJURP C T exonic nonsynonymous SNV HJURP:NM_001282962:exon3:c.G226A:p.E76K,HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K RS2286430 Hypertension, combined control dataset, gender differentiated:Childhood acute lymphoblastic leukemia:LDL cholesterol change with statins:Cystatin C in serum:Partial epilepsy:Parkinson's disease:Paternal transmission distortion
2 237032607 1 AGAP1 T G exonic synonymous SNV AGAP1:NM_014914:exon17:c.T2256G:p.A752A,AGAP1:NM_001037131:exon18:c.T2415G:p.A805A
2 237032703 1 AGAP1 T C exonic synonymous SNV AGAP1:NM_014914:exon17:c.T2352C:p.P784P,AGAP1:NM_001037131:exon18:c.T2511C:p.P837P RS8178994 Height:College completion:Infant head circumference:Years of education
2 238990388 1 SCLY G A exonic nonsynonymous SNV SCLY:NM_016510:exon5:c.G547A:p.A183T RS3210400 Triglycerides:HDL cholesterol:Total cholesterol:Serum creatinine:Gene expression of UBE2F in CD4+ lymphocytes:Gene expression of KLHL30 in blood:Gene expression of UBE2F in blood:Gene expression of SCLY [probeset 219808_at] in sputum:Adiponectin levels:Gene expression of ESPNL (probeID ILMN_2115862) in cerebellum in Progressive Supranuclear Palsy cases:Years of education:Gene expression of ESPNL (probeID ILMN_2115862) in cerebellum in Alzheimer's disease cases and controls:Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months):Gene expression of ESPNL (probeID ILMN_2115862) in cerebellum in Alzheimer's disease cases:Gene expression of ESPNL (probeID ILMN_2115862) in cerebellum in non-Alzheimer's disease samples
2 239229372 1 TRAF3IP1 C A exonic synonymous SNV TRAF3IP1:NM_001139490:exon1:c.C69A:p.T23T,TRAF3IP1:NM_015650:exon1:c.C69A:p.T23T
2 240003870 1 HDAC4 G A exonic synonymous SNV HDAC4:NM_006037:exon21:c.C2565T:p.P855P RS1063639 Fasting insulin:HOMA-B:HOMA-IR:Birth weight:Refractive error
2 241538074 2 CAPN10 A G exonic nonsynonymous SNV CAPN10:NM_023085:exon10:c.A1531G:p.I511V,CAPN10:NM_023083:exon12:c.A1996G:p.I666V RS2975766 Autism:Triglycerides
2 242203916 2 HDLBP A C exonic nonsynonymous SNV HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A
2 242407588 1 FARP2 G A exonic nonsynonymous SNV FARP2:NM_014808:exon18:c.G1927A:p.V643I RS41342147 Maternal transmission distortion
2 242610773 1 ATG4B T A exonic nonsynonymous SNV ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q
3 4817057 2 ITPR1 T C exonic synonymous SNV ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N RS6442905 HDL cholesterol:HOMA-IR:Fasting blood glucose
3 4856180 2 ITPR1 T C exonic synonymous SNV ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T RS711631 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol:Serum ratio of (cysteine-glutathione disulfide)/(erythronate*):PROP taste detection threshold:Variant Creutzfeldt-Jakob disease:Mitral annular calcium
3 5241309 2 EDEM1 C A exonic synonymous SNV EDEM1:NM_014674:exon3:c.C615A:p.A205A RS410509 LDL cholesterol:Intron expression
3 8955389 2 RAD18 C T exonic nonsynonymous SNV RAD18:NM_020165:exon8:c.G905A:p.R302Q RS373572 Gene expression of RAD18 in CEU-CHB-JPT lymphoblastoid cell lines:Total cholesterol change with statins:Serum concentration of caproate (6:0):Variant Creutzfeldt-Jakob disease:Colorectal cancer vs adenoma controls (males):Hypertension (early onset hypertension)
3 9970031 2 IL17RC A G exonic nonsynonymous SNV IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R
3 9975247 2 IL17RC C G exonic synonymous SNV IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G
3 9976159 2 CRELD1 A G exonic nonsynonymous SNV CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V
3 10088329 1 FANCD2 C A exonic nonsynonymous SNV FANCD2:NM_001018115:exon15:c.C1200A:p.D400E,FANCD2:NM_001319984:exon15:c.C1200A:p.D400E,FANCD2:NM_033084:exon15:c.C1200A:p.D400E
3 11643465 2 VGLL4 T C exonic nonsynonymous SNV VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M,VGLL4:NM_001284390:exon4:c.A111G:p.I37M RS2276749 Height:Aortic valve calcium
3 13361391 2 NUP210 A G exonic nonsynonymous SNV NUP210:NM_024923:exon37:c.T5255C:p.L1752S RS354479 HDL cholesterol:Autism without verbal ability:HDL cholesterol:Triglycerides:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
3 14197987 2 XPC A T exonic synonymous SNV XPC:NM_004628:exon10:c.T1881A:p.A627A
3 24006477 2 NR1D2 T A exonic nonsynonymous SNV NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M RS4858097 LDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio
3 33055721 2 GLB1 A G exonic nonsynonymous SNV GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R
3 33138544 2 GLB1 A G exonic synonymous SNV GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L
3 33434831 2 UBP1 G A exonic synonymous SNV UBP1:NM_001128160:exon13:c.C1398T:p.T466T,UBP1:NM_014517:exon14:c.C1506T:p.T502T,UBP1:NM_001128161:exon15:c.C1506T:p.T502T RS2293250 Triglycerides:Triglycerides change with statins:Serum creatinine:Parkinson's disease
3 39185248 2 CSRNP1 A G exonic synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S RS784519 Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in whole blood
3 42236415 2 TRAK1 A G exonic synonymous SNV TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_001349248:exon9:c.A873G:p.S291S,TRAK1:NM_001349249:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S,TRAK1:NM_001349245:exon10:c.A783G:p.S261S,TRAK1:NM_001349246:exon10:c.A1095G:p.S365S,TRAK1:NM_001349247:exon10:c.A1095G:p.S365S RS9851455 Serum creatinine
3 42251329 2 TRAK1 C T exonic synonymous SNV TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_001349248:exon13:c.C1593T:p.P531P,TRAK1:NM_001349249:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P,TRAK1:NM_001349245:exon14:c.C1503T:p.P501P,TRAK1:NM_001349246:exon14:c.C1815T:p.P605P,TRAK1:NM_001349247:exon14:c.C1815T:p.P605P RS2290133 Aortic valve calcium
3 43121559 2 POMGNT2 C T exonic synonymous SNV POMGNT2:NM_032806:exon2:c.G1365A:p.P455P RS604033 Chronic kidney disease:Comorbid depressive syndrome and alcohol dependence
3 44612547 1 ZKSCAN7 C T exonic nonsynonymous SNV ZKSCAN7:NM_001288590:exon6:c.C1945T:p.H649Y,ZKSCAN7:NM_018651:exon6:c.C1945T:p.H649Y
3 44612552 1 ZKSCAN7 T C exonic synonymous SNV ZKSCAN7:NM_001288590:exon6:c.T1950C:p.L650L,ZKSCAN7:NM_018651:exon6:c.T1950C:p.L650L
3 44692564 2 ZNF35 C G exonic nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S RS2272044 Serum ratio of (lathosterol)/(mannitol)
3 44775962 2 ZNF501 A G exonic nonsynonymous SNV ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V RS4682752 Gene expression of ZNF502 in CD4+ lymphocytes:Late onset Alzheimer's disease:Gene expression of ZNF502 in blood:Gene expression of ZNF167 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in normal prepouch ileum
3 44884647 2 KIF15 C A exonic nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M RS3804583 Irritible bowel syndrome:Gene expression of ZNF197 in peripheral blood monocytes:Gene expression of ZNF167 in peripheral blood monocytes:Gene expression of ZNF502 in peripheral blood monocytes:Gene expression of TMEM42 in peripheral blood monocytes:Total cholesterol:Late onset Alzheimer's disease:Gene expression of ZNF502 in blood:Serum ratio of (acetylcarnitine)/(gamma-glutamylisoleucine*):Gene expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in normal prepouch ileum
3 45134822 2 CDCP1 T C exonic nonsynonymous SNV CDCP1:NM_022842:exon6:c.A1574G:p.Q525R RS3749191 Irritible bowel syndrome:HDL cholesterol:LDL cholesterol change with statins:Serum ratio of (gamma-tocopherol)/(inosine):Serum ratio of (gamma-glutamylthreonine*)/(ornithine):Coronary artery disease (CAD):Age at death with kuru exposure:Erectile dysfunction after radiotherapy for prostate cancer
3 45527218 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L RS7610357 Triglycerides
3 45533224 2 LARS2 G A exonic synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A RS2128361 Irritible bowel syndrome:Transmission distortion:Maternal transmission distortion
3 45559519 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A RS2170549 Adiponectin levels
3 45565554 2 LARS2 A G exonic synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V
3 45637253 2 LIMD1 C T exonic synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T
3 45637439 2 LIMD1 T C exonic synonymous SNV LIMD1:NM_014240:exon1:c.T1068C:p.G356G RS267236 Total cholesterol:Serum creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
3 46010077 2 FYCO1 C T exonic nonsynonymous SNV FYCO1:NM_024513:exon8:c.G749A:p.R250Q RS4683158 2 hour glucose:Mitral annular calcium
3 47018214 2 CCDC12 T C exonic synonymous SNV CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A
3 47449058 2 PTPN23 T C exonic synonymous SNV PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T
3 47452087 2 PTPN23 G A exonic synonymous SNV PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P
3 47454399 2 PTPN23 G C exonic synonymous SNV PTPN23:NM_001304482:exon24:c.G4257C:p.P1419P,PTPN23:NM_015466:exon25:c.G4635C:p.P1545P
3 47462200 2 SCAP T C exonic synonymous SNV SCAP:NM_001320044:exon9:c.A642G:p.G214G,SCAP:NM_012235:exon12:c.A1407G:p.G469G
3 48476431 2 CCDC51 C G exonic synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L
3 48727112 2 IP6K2 G A exonic synonymous SNV IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y RS4858798 Gene expression of NCKIPSD in liver:Irritible bowel syndrome:Tardive dyskinesia:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of QRICH1 in peripheral blood monocytes:Gene expression of NCKIPSD in peripheral blood monocytes:Gene expression of PH-4 in peripheral blood monocytes:Gene expression of SCML1 in peripheral blood monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene expression of INHBE in peripheral blood monocytes:Gene expression of AMT in peripheral blood monocytes:Triglycerides:Waist hip ratio:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Paternal transmission distortion
3 49054692 2 DALRD3 T C exonic nonsynonymous SNV DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R RS3087866 Stabilized warfarin dose:Total cholesterol:LDL cholesterol:Gene expression of NCKIPSD in peripheral blood monocytes:Gene expression of WDR6 in peripheral blood monocytes:Gene expression of QRICH1 in peripheral blood monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of AMT in peripheral blood monocytes:Gene expression of PH-4 in peripheral blood monocytes:Triglycerides:Waist hip ratio:Gene expression of IMPDH2///QRICH1 in blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in blood:Serum ratio of (bradykinin, des-arg(9))/(cystine):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Paternal transmission distortion:Years of education:Adiponectin levels
3 49200627 2 CCDC71 A G exonic nonsynonymous SNV CCDC71:NM_022903:exon2:c.T1015C:p.W339R RS4955418 Irritible bowel syndrome:Premature ovarian failure:Chronic lymphocytic leukemia/small lymphocytic lymphoma:Waist hip ratio:Gene expression of TCTA [probe ILMN_19788] in osteoblasts treated with PGE2:Gene expression of C3orf60 in blood:Gene expression of C3orf62///USP4 in blood:Gene expression of WDR6 in blood:Gene expression of PH-4///WDR6 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of CCDC36 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of WDR6 in normal prepouch ileum:Birth weight:Transmission distortion
3 49200692 2 CCDC71 T A exonic nonsynonymous SNV CCDC71:NM_022903:exon2:c.A950T:p.Q317L RS4955419 Waist hip ratio:Advanced age-related macular degeneration:Birth weight:Advanced age-related macular degeneration (geographic atrophy)
3 49548008 2 DAG1 C G exonic nonsynonymous SNV DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W
3 49724808 2 MST1 T C exonic synonymous SNV MST1:NM_020998:exon4:c.A459G:p.P153P RS3020779 Total cholesterol:Chronic kidney disease:Parkinson's disease:Adiponectin levels:Years of education:Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2):Advanced age-related macular degeneration:College completion
3 49724837 1 MST1 G A exonic nonsynonymous SNV MST1:NM_020998:exon4:c.C430T:p.P144S
3 49728620 1 RNF123 A G exonic nonsynonymous SNV RNF123:NM_022064:exon2:c.A22G:p.M8V
3 49728642 1 RNF123 A G exonic nonsynonymous SNV RNF123:NM_022064:exon2:c.A44G:p.Y15C
3 49728916 1 RNF123 A C exonic nonsynonymous SNV RNF123:NM_022064:exon3:c.A141C:p.E47D
3 49760039 2 GMPPB T C exonic nonsynonymous SNV GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R
3 50114515 2 RBM6 C T exonic synonymous SNV RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_001349194:exon18:c.C1779T:p.Y593Y,RBM6:NM_001349190:exon19:c.C1755T:p.Y585Y,RBM6:NM_001349191:exon20:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y,RBM6:NM_001349193:exon22:c.C1755T:p.Y585Y,RBM6:NM_001349192:exon23:c.C1755T:p.Y585Y RS7061 Gene expression of probe 228030_at in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Premature ovarian failure:Biploar disorder (bipolar schizoaffective disorder):Total cholesterol:Gene expression of RBM6 in peripheral blood monocytes:Gene expression of HYAL3 in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RBM6 [probe ILMN_13075] in osteoblasts treated with PGE2:Gene expression of RBM6 in blood:Gene expression of IFRD2///HYAL3 in blood:Years of education:Hypertension (early onset hypertension):Obesity with early age of onset (age >2):Parkinson's disease:Transmission distortion:Paternal transmission distortion:College completion
3 50144951 2 RBM5 T C exonic synonymous SNV RBM5:NM_005778:exon12:c.T990C:p.A330A RS1061474 Gene expression of probe 228030_at in lymphoblastoid cell lines:Gene expression of RBM6 [probe 1556672_a_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Premature ovarian failure:Total cholesterol:HDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RBM6 in blood:Gene expression of IFRD2///HYAL3 in blood:Parkinson's disease:Gene expression of UBA7 in normal prepouch ileum:College completion:Years of education:Obesity with early age of onset (age >2):Hypertension (early onset hypertension)
3 50153356 2 RBM5 T C exonic synonymous SNV RBM5:NM_005778:exon22:c.T2037C:p.Y679Y RS1138536 Differential exon level expression of RBM5 [probe 2622524] in peripheral blood mononuclear cells:Differential exon level expression of RBM5 [probe 2622524] in brain cortex:Gene expression of HYAL3 in peripheral blood monocytes:Gene expression of RBM6 in peripheral blood monocytes:Triglycerides:Birth weight:Hypertension (early onset hypertension):Gene expression of UBA7 in normal prepouch ileum
3 50222926 2 SEMA3F T A exonic nonsynonymous SNV SEMA3F:NM_001318798:exon13:c.T1210A:p.L404M,SEMA3F:NM_001318800:exon13:c.T1414A:p.L472M,SEMA3F:NM_004186:exon14:c.T1507A:p.L503M
3 50329826 2 IFRD2 A G exonic synonymous SNV IFRD2:NM_006764:exon1:c.T72C:p.R24R RS1076872 HDL cholesterol change with statins:Serum creatinine:Total cholesterol:HDL cholesterol:Obesity with early age of onset (age >2):College completion
3 50597092 2 C3orf18 G A exonic nonsynonymous SNV C3orf18:NM_001171740:exon5:c.C485T:p.A162V,C3orf18:NM_001171741:exon5:c.C485T:p.A162V,C3orf18:NM_001171743:exon5:c.C425T:p.A142V,C3orf18:NM_016210:exon6:c.C485T:p.A162V RS1034405 HIV-1 control (viral load at set point):Height:Body mass index (BMI):College completion
3 52492707 2 NISCH T C exonic synonymous SNV NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N RS1541495 Triglycerides:HDL cholesterol:Waist hip ratio:Height (Pygmy height):Adiponectin levels
3 52510592 2 NISCH G A exonic nonsynonymous SNV NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I RS9856575 Comorbid depressive syndrome and alcohol dependence
3 52523405 2 NISCH C T exonic nonsynonymous SNV NISCH:NM_007184:exon17:c.C3167T:p.A1056V RS887515 Triglycerides:LDL cholesterol:HDL cholesterol change with statins:Triglycerides:HDL cholesterol:Waist hip ratio:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months)
3 52867715 2 MUSTN1;TMEM110-MUSTN1 G C exonic nonsynonymous SNV MUSTN1:NM_205853:exon2:c.C60G:p.D20E,TMEM110-MUSTN1:NM_001198974:exon9:c.C930G:p.D310E
3 53125922 2 RFT1 T C exonic synonymous SNV RFT1:NM_052859:exon13:c.A1623G:p.T541T RS11242 Irritible bowel syndrome:Neuroticism:LDL cholesterol:Triglycerides change with statins:Gene expression of ITIH4 in peripheral blood monocytes:Gene expression of SFMBT1 in peripheral blood monocytes:HDL cholesterol:Height:Waist hip ratio:Serum ratio of (arabinose)/(pantothenate):Adiponectin levels:Obesity with early age of onset (age >2)
3 53222761 2 PRKCD C T exonic synonymous SNV PRKCD:NM_212539:exon15:c.C1441T:p.L481L,PRKCD:NM_001316327:exon16:c.C1441T:p.L481L,PRKCD:NM_006254:exon16:c.C1441T:p.L481L RS2306574 Fasting insulin:HOMA-IR:Triglycerides change with statins
3 53223927 2 PRKCD C G exonic synonymous SNV PRKCD:NM_212539:exon17:c.C1782G:p.T594T,PRKCD:NM_001316327:exon18:c.C1782G:p.T594T,PRKCD:NM_006254:exon18:c.C1782G:p.T594T
3 53224002 2 PRKCD T C exonic synonymous SNV PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_001316327:exon18:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P
3 56597954 2 CCDC66 C T exonic synonymous SNV CCDC66:NM_001012506:exon4:c.C243T:p.T81T,CCDC66:NM_001141947:exon4:c.C345T:p.T115T RS6769055 Irritible bowel syndrome:Rheumatoid arthritis:Height:Maternal transmission distortion
3 56627048 2 CCDC66 A G exonic synonymous SNV CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q RS1388256 Height:Bipolar disorder:Refractive error
3 56627598 2 CCDC66 A G exonic nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R
3 58416538 2 PDHB T C exonic synonymous SNV PDHB:NM_001315536:exon5:c.A381G:p.R127R,PDHB:NM_000925:exon6:c.A435G:p.R145R
3 62229553 2 PTPRG C T exonic synonymous SNV PTPRG:NM_002841:exon15:c.C2448T:p.I816I
3 64133182 2 PRICKLE2 G A exonic synonymous SNV PRICKLE2:NM_198859:exon7:c.C984T:p.N328N
3 69245454 2 FRMD4B T C exonic nonsynonymous SNV FRMD4B:NM_015123:exon14:c.A1186G:p.T396A RS9310141 Salmonella-induced pyroptosis
3 73046200 1 PPP4R2 G C exonic nonsynonymous SNV PPP4R2:NM_001318025:exon1:c.G12C:p.E4D,PPP4R2:NM_001318028:exon1:c.G12C:p.E4D,PPP4R2:NM_174907:exon1:c.G12C:p.E4D
3 81643167 2 GBE1 T C exonic nonsynonymous SNV GBE1:NM_000158:exon8:c.A1000G:p.I334V RS2172397 Triglycerides change with statins:Triglycerides
3 88189341 2 ZNF654 T C exonic nonsynonymous SNV ZNF654:NM_001350135:exon6:c.T2183C:p.I728T,ZNF654:NM_001350136:exon7:c.T1886C:p.I629T,ZNF654:NM_001350137:exon7:c.T1700C:p.I567T,ZNF654:NM_001350134:exon8:c.T2522C:p.I841T RS7653652 Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):Triglycerides change with statins:Body mass index (BMI):Gene expression of ZNF654 [probe ILMN_6649] in osteoblasts treated with PGE2:Gene expression of CGGBP1 [probe ILMN_7424] in untreated osteoblasts:Gene expression of CGGBP1 [probe ILMN_7424] in osteoblasts treated with BMP2:Gene expression of ZNF654 in blood:Gene expression of CGGBP1 in blood:College completion:Obesity with early age of onset (age >2)
3 88199298 2 C3orf38 T C exonic synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T RS6551278 Fasting insulin:HOMA-IR:Triglycerides change with statins:Body mass index (BMI):Microalbuminuria:College completion:Obesity with early age of onset (age >2)
3 97673268 2 RIOX2 A C exonic synonymous SNV RIOX2:NM_001042533:exon5:c.T753G:p.S251S,RIOX2:NM_001261829:exon5:c.T753G:p.S251S,RIOX2:NM_032778:exon5:c.T753G:p.S251S,RIOX2:NM_153182:exon5:c.T753G:p.S251S RS832079 Diabetic retinopathy in Type 2 diabetes mellitus
3 101484335 2 CEP97 G A exonic synonymous SNV CEP97:NM_001303401:exon11:c.G2361A:p.Q787Q,CEP97:NM_024548:exon11:c.G2538A:p.Q846Q RS2625282 LDL cholesterol change with statins:Total cholesterol change with statins:Height:Refractive error
3 105260596 2 ALCAM T C exonic synonymous SNV ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A
3 108403086 2 DZIP3 T C exonic synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P
3 111828423 2 C3orf52 G A exonic nonsynonymous SNV C3orf52:NM_024616:exon4:c.G430A:p.G144S
3 113010466 2 CFAP44 T C exonic nonsynonymous SNV CFAP44:NM_001164496:exon35:c.A5503G:p.S1835G RS2291905 Diffuse-type gastric cancer:Aortic valve calcium
3 113022870 2 CFAP44 T C exonic nonsynonymous SNV CFAP44:NM_001164496:exon32:c.A4970G:p.H1657R RS4682484 Fasting blood glucose
3 121208833 2 POLQ G C exonic nonsynonymous SNV POLQ:NM_199420:exon16:c.C2945G:p.T982R RS3218649 LDL cholesterol change with statins:Rheumatoid arthritis:Acute lung injury following major trauma
3 121238749 2 POLQ G A exonic synonymous SNV POLQ:NM_199420:exon9:c.C1437T:p.G479G
3 121263720 2 POLQ C A exonic nonsynonymous SNV POLQ:NM_199420:exon2:c.G197T:p.R66I
3 122134047 1 WDR5B C T exonic stopgain WDR5B:NM_019069:exon1:c.G329A:p.W110X
3 122186188 2 KPNA1 C T exonic nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N
3 122437321 2 PARP14 T C exonic synonymous SNV PARP14:NM_017554:exon14:c.T4323C:p.Y1441Y RS7645033 LDL cholesterol:Total cholesterol:Gene expression of HSPBAP1 in blood:Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Mitral annular calcium:Years of education:College completion
3 123418913 2 MYLK G A exonic synonymous SNV MYLK:NM_001321309:exon17:c.C2874T:p.N958N,MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N RS865358 Cystatin C in serum:Urinary albumin-to-creatinine ratio
3 123451773 2 MYLK G C exonic nonsynonymous SNV MYLK:NM_001321309:exon10:c.C958G:p.L320V,MYLK:NM_053025:exon11:c.C1486G:p.L496V,MYLK:NM_053027:exon11:c.C1486G:p.L496V
3 123457893 2 MYLK G A exonic nonsynonymous SNV MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S
3 123634046 2 CCDC14 G A exonic synonymous SNV CCDC14:NM_001308317:exon12:c.C1842T:p.S614S,CCDC14:NM_022757:exon12:c.C2319T:p.S773S RS2700373 Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease:College completion:Years of education:Acute lung injury following major trauma
3 124692689 2 HEG1 C T exonic synonymous SNV HEG1:NM_020733:exon16:c.G3882A:p.P1294P RS2270778 Triglycerides:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral annular calcium
3 124839470 2 SLC12A8 G A exonic nonsynonymous SNV SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L
3 125648343 2 ALG1L G A exonic nonsynonymous SNV ALG1L:NM_001015050:exon6:c.C416T:p.S139L,ALG1L:NM_001195223:exon7:c.C476T:p.S159L
3 125726048 2 SLC41A3 G C exonic synonymous SNV SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L RS2279819 Fasting blood glucose:Gene expression of SLC41A3 [probe 219175_s_at] in prefrontal cortex:Gene expression of SLC41A3 in peripheral blood monocytes:Body mass index (BMI):Systolic blood pressure (SBP)
3 125786879 2 SLC41A3 T C exonic nonsynonymous SNV SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A RS4234270 Salmonella-induced pyroptosis
3 126329910 2 TXNRD3 A G exonic unknown UNKNOWN RS777241 Total cholesterol:Gene expression of CHST13 in peripheral blood monocytes:Body mass index (BMI)
3 126737268 2 PLXNA1 C A exonic synonymous SNV PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L RS4679323 Rheumatoid arthritis:Premature ovarian failure:LDL cholesterol change with statins:Total cholesterol:Tetrology of fallot:College completion:Mitral annular calcium
3 127983495 2 EEFSEC T C exonic synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D RS2811544 Total cholesterol:Parkinson's disease
3 128205860 2 GATA2 G C exonic synonymous SNV GATA2:NM_001145662:exon2:c.C15G:p.P5P,GATA2:NM_032638:exon2:c.C15G:p.P5P,GATA2:NM_001145661:exon3:c.C15G:p.P5P
3 128890350 2 CNBP G A exonic synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D RS4303883 Height
3 129058882 2
3 129214358 1 IFT122 T C exonic nonsynonymous SNV IFT122:NM_052990:exon15:c.T1783C:p.F595L,IFT122:NM_001280546:exon16:c.T1489C:p.F497L,IFT122:NM_018262:exon17:c.T1939C:p.F647L,IFT122:NM_001280541:exon18:c.T2092C:p.F698L,IFT122:NM_052989:exon18:c.T2116C:p.F706L,IFT122:NM_001280545:exon19:c.T1666C:p.F556L,IFT122:NM_052985:exon19:c.T2269C:p.F757L
3 129281980 2 PLXND1 C T exonic nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N
3 129324193 2 PLXND1 A G exonic synonymous SNV PLXND1:NM_015103:exon1:c.T1290C:p.C430C
3 129546729 2 TMCC1 T C exonic nonsynonymous SNV TMCC1:NM_001128224:exon3:c.A151G:p.S51G,TMCC1:NM_001349268:exon3:c.A493G:p.S165G,TMCC1:NM_001017395:exon4:c.A493G:p.S165G,TMCC1:NM_001349264:exon4:c.A493G:p.S165G,TMCC1:NM_001349265:exon4:c.A493G:p.S165G,TMCC1:NM_001349270:exon4:c.A151G:p.S51G,TMCC1:NM_001349263:exon5:c.A493G:p.S165G,TMCC1:NM_001349266:exon5:c.A493G:p.S165G,TMCC1:NM_001349269:exon5:c.A151G:p.S51G
3 132360883 2 ACAD11 C T exonic nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H
3 133485133 2 TF A G exonic nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V
3 134077470 2 AMOTL2 C G exonic nonsynonymous SNV AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D RS1353776 Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education
3 142168331 2 ATR C T exonic synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q
3 142222284 2 ATR A G exonic synonymous SNV ATR:NM_001184:exon30:c.T5208C:p.Y1736Y RS2227931 Autism with high IQ:Triglycerides:Total cholesterol
3 142277536 2 ATR A G exonic synonymous SNV ATR:NM_001184:exon8:c.T1815C:p.D605D RS2227929 Gene expression of LXN in peripheral blood monocytes:Gene expression of PHF7 in peripheral blood monocytes:Gene expression of GART in peripheral blood monocytes:Body mass index (BMI)
3 142277575 2 ATR A T exonic synonymous SNV ATR:NM_001184:exon8:c.T1776A:p.G592G RS2227930 Total cholesterol:Triglycerides:LDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Mean corpuscular volume (MCV)
3 142281612 2 ATR A G exonic nonsynonymous SNV ATR:NM_001184:exon4:c.T632C:p.M211T RS2227928 Differential exon level expression of ATR [probe 2698921] in peripheral blood mononuclear cells:Differential exon level expression of ATR [probe 2698921] in brain cortex:Parkinson's disease (PD):Triglycerides change with statins:Total cholesterol:Triglycerides:LDL cholesterol:Gene expression of ATR in blood:Serum ratio of (allantoin)/(ornithine):Gene expression of PLS1 (ENSG00000120756) in dendritic cells treated with Mycobacterium tuberculosis:Mean corpuscular volume (MCV):Mean corpuscular hemoglobin concentration (MCHC)
3 148872987 2 HPS3 G A exonic synonymous SNV HPS3:NM_001308258:exon7:c.G999A:p.Q333Q,HPS3:NM_032383:exon8:c.G1494A:p.Q498Q RS6440589 Total cholesterol:Diastolic blood pressure (DBP)
3 148916235 2 CP T A exonic nonsynonymous SNV CP:NM_000096:exon9:c.A1632T:p.E544D RS701753 Serum creatinine
3 153839866 2 ARHGEF26 G C exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L RS12493885 Serum creatinine:Rheumatoid arthritis:Body mass index (BMI):Coronary artery calcification (CAC):Coronary artery disease (CAD)
3 153839959 2 ARHGEF26 C T exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.C178T:p.L60F,ARHGEF26:NM_001251963:exon2:c.C178T:p.L60F,ARHGEF26:NM_015595:exon2:c.C178T:p.L60F
3 153839960 2 ARHGEF26 T C exonic nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P
3 153994596 2
3 170078232 2 SKIL C T exonic nonsynonymous SNV SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V RS3772173 HDL cholesterol change with statins:Chronic kidney disease:Serum creatinine:HDL cholesterol:Triglycerides
3 170825905 2 TNIK C G exonic synonymous SNV TNIK:NM_001161565:exon18:c.G2079C:p.A693A,TNIK:NM_001161566:exon18:c.G2079C:p.A693A,TNIK:NM_001161561:exon19:c.G2244C:p.A748A,TNIK:NM_001161562:exon19:c.G2244C:p.A748A,TNIK:NM_001161563:exon19:c.G2166C:p.A722A,TNIK:NM_001161564:exon19:c.G2166C:p.A722A,TNIK:NM_001161560:exon20:c.G2331C:p.A777A,TNIK:NM_015028:exon20:c.G2331C:p.A777A
3 171969077 2 FNDC3B C G exonic nonsynonymous SNV FNDC3B:NM_001135095:exon6:c.C536G:p.T179S,FNDC3B:NM_022763:exon6:c.C536G:p.T179S RS7652177 2 hour glucose:HOMA-IR:Fasting insulin:Height:Urinary albumin-to-creatinine ratio:Parkinson's disease
3 179096508 2 MFN1 C G exonic nonsynonymous SNV MFN1:NM_033540:exon14:c.C1568G:p.P523R
3 179298999 2 ACTL6A C T exonic synonymous SNV ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D RS1132429 Years of education
3 183975365 2 ECE2 C T exonic nonsynonymous SNV ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y RS7633387 Total cholesterol
3 184037533 2 EIF4G1 A G exonic nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A
3 184428903 2 MAGEF1 T G exonic nonsynonymous SNV MAGEF1:NM_022149:exon1:c.A707C:p.E236A RS9872799 Schizophrenia:Chronic kidney disease:Partial epilepsy:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels:Tetrology of fallot:Years of education:College completion:Primary rhegmatogenous retinal detachment
3 184429414 2 MAGEF1 C A exonic nonsynonymous SNV MAGEF1:NM_022149:exon1:c.G196T:p.A66S RS10937187 Rheumatoid arthritis:Schizophrenia:Chronic kidney disease:Partial epilepsy:Serum concentration of N-acetylornithine:Primary rhegmatogenous retinal detachment:Adiponectin levels:Tetrology of fallot:Years of education
3 184647413 2 VPS8 T C exonic synonymous SNV VPS8:NM_001349296:exon31:c.T2721C:p.D907D,VPS8:NM_001009921:exon32:c.T2760C:p.D920D,VPS8:NM_001349293:exon32:c.T2760C:p.D920D,VPS8:NM_001349294:exon32:c.T2760C:p.D920D,VPS8:NM_001349295:exon32:c.T2760C:p.D920D,VPS8:NM_001349297:exon32:c.T1041C:p.D347D,VPS8:NM_015303:exon32:c.T2754C:p.D918D,VPS8:NM_001349292:exon33:c.T2760C:p.D920D,VPS8:NM_001349298:exon33:c.T960C:p.D320D RS4643688 Triglycerides
3 186330969 1 AHSG C G exonic synonymous SNV AHSG:NM_001622:exon1:c.C39G:p.L13L RS4831 Systolic blood pressure (SBP):PROP taste detection threshold:College completion:Adiponectin levels:Years of education
3 186338425 2 AHSG A C exonic synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T RS1071592 HDL cholesterol change with statins:P02765 protein abundance levels:Activated partial thromboplastin time:Adiponectin levels:Infant head circumference
3 194349178 2 TMEM44 C T exonic synonymous SNV TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A
3 194373832 2 LSG1 T C exonic nonsynonymous SNV LSG1:NM_018385:exon8:c.A799G:p.K267E RS1675953 Chronic kidney disease:Serum creatinine:Rheumatoid arthritis:Body mass index (BMI)
3 194373833 2 LSG1 G A exonic synonymous SNV LSG1:NM_018385:exon8:c.C798T:p.T266T
3 194408704 2 FAM43A A G exonic synonymous SNV FAM43A:NM_153690:exon1:c.A1149G:p.S383S
3 195451880 2 MUC20 A G exonic nonsynonymous SNV MUC20:NM_001282506:exon2:c.A406G:p.R136G,MUC20:NM_001291833:exon2:c.A406G:p.R136G,MUC20:NM_020790:exon2:c.A406G:p.R136G,MUC20:NM_152673:exon2:c.A406G:p.R136G
3 195451881 2 MUC20 G A exonic nonsynonymous SNV MUC20:NM_001282506:exon2:c.G407A:p.R136K,MUC20:NM_001291833:exon2:c.G407A:p.R136K,MUC20:NM_020790:exon2:c.G407A:p.R136K,MUC20:NM_152673:exon2:c.G407A:p.R136K
3 197495334 2 FYTTD1 G A exonic nonsynonymous SNV FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H RS3205525 Arthritis including non-Rheumatoid:Schizophrenia:HDL cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Aortic valve calcium
4 858941 2 GAK T C exonic synonymous SNV GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A
4 1165741 2 SPON2 A G exonic nonsynonymous SNV SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P RS922697 Gene expression of SPON2 [transcript NM_001128325, probe A_23_P121533] in liver
4 1374695 2 UVSSA C A exonic synonymous SNV UVSSA:NM_001317934:exon12:c.C1780A:p.R594R,UVSSA:NM_001317935:exon12:c.C1780A:p.R594R,UVSSA:NM_020894:exon12:c.C1780A:p.R594R
4 1377615 2 UVSSA A G exonic synonymous SNV UVSSA:NM_001317934:exon13:c.A1923G:p.S641S,UVSSA:NM_001317935:exon13:c.A1923G:p.S641S,UVSSA:NM_020894:exon13:c.A1923G:p.S641S
4 1701317 1 SLBP G A exonic synonymous SNV SLBP:NM_001306074:exon4:c.C348T:p.Y116Y,SLBP:NM_001306075:exon4:c.C336T:p.Y112Y,SLBP:NM_006527:exon5:c.C453T:p.Y151Y RS2247341 Triglycerides change with statins:Height:Gene expression:Suicide attempts in bipolar disorder:Suicide attempts in mood disorder patients:Alcohol dependence symptoms:Diastolic blood pressure (DBP):Height:Lung function, forced expiratory volume in 1 second (FEV1):Height
4 1729660 1 TACC3 C T exonic synonymous SNV TACC3:NM_006342:exon4:c.C531T:p.S177S RS1063742 LDL cholesterol:HDL cholesterol change with statins:Serum creatinine:Height:Urinary albumin-to-creatinine ratio
4 1729953 1 TACC3 G A exonic nonsynonymous SNV TACC3:NM_006342:exon4:c.G824A:p.C275Y
4 1729988 1 TACC3 G A exonic nonsynonymous SNV TACC3:NM_006342:exon4:c.G859A:p.G287S RS1063743 HDL cholesterol change with statins:Serum creatinine:Height:Urinary albumin-to-creatinine ratio
4 1730299 1 TACC3 A G exonic synonymous SNV TACC3:NM_006342:exon4:c.A1170G:p.A390A RS798759 Serum creatinine:Methylation levels at chr4:1694197-1694247 [hg18 coord, probe cg02089348] in Cerebellum:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration:Mitral annular calcium
4 1732978 1 TACC3 G A exonic nonsynonymous SNV TACC3:NM_006342:exon6:c.G1541A:p.G514E RS17680881 LDL cholesterol:HOMA-IR
4 1737502 1 TACC3 C T exonic synonymous SNV TACC3:NM_006342:exon8:c.C1689T:p.F563F RS11248073 Height:Suicide attempts in bipolar disorder:Suicide attempts in mood disorder patients:Diastolic blood pressure (DBP)
4 1818594 2 LETM1 C T exonic synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K
4 2044128 2 C4orf48 C T exonic nonsynonymous SNV C4orf48:NM_001141936:exon2:c.C50T:p.P17L,C4orf48:NM_001168243:exon2:c.C149T:p.P50L
4 3219613 2 HTT A C exonic synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L
4 3318413 2 RGS12 A G exonic synonymous SNV RGS12:NM_002926:exon2:c.A516G:p.S172S,RGS12:NM_198229:exon2:c.A516G:p.S172S RS2236052 LDL cholesterol:Triglycerides:Fasting blood glucose:Gene expression of ADD1 in peripheral blood monocytes:Gene expression of EVI5 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Triglycerides:Height:Myocardial infarction (MI):College completion:Gene expression of RGS12 in normal prepouch ileum:Years of education:Advanced age-related macular degeneration (geographic atrophy)
4 4276132 2 LYAR T C exonic nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R
4 5743509 2 EVC C T exonic synonymous SNV EVC:NM_001306090:exon6:c.C769T:p.L257L,EVC:NM_001306092:exon6:c.C769T:p.L257L,EVC:NM_153717:exon6:c.C769T:p.L257L
4 5743512 2 EVC T C exonic nonsynonymous SNV EVC:NM_001306090:exon6:c.T772C:p.Y258H,EVC:NM_001306092:exon6:c.T772C:p.Y258H,EVC:NM_153717:exon6:c.T772C:p.Y258H RS6414624 Schizophrenia:Chronic kidney disease:Serum ratio of (1-oleoylglycerophosphoethanolamine)/(1-palmitoylglycerophosphoethanolamine):Advanced age-related macular degeneration (geographic atrophy)
4 6293696 2 WFS1 C G exonic synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R
4 6302519 2 WFS1 G A exonic nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I RS1801212 Type 2 diabetes:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Gene expression of ANKRD26 in peripheral blood monocytes:Microalbuminuria:Variant Creutzfeldt-Jakob disease:Type 2 diabetes, end stage renal disease
4 6302707 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V RS1801206 Fasting blood glucose:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood monocytes:Mitral annular calcium
4 6303022 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N RS1801214 Fasting blood glucose:Type 2 diabetes:Type 2 diabetes, age of onset:Fasting blood glucose:Type 2 diabetes without obesity:Microalbuminuria:Type 2 diabetes (males):Type 2 diabetes:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Type 2 diabetes (females):Type 2 diabetes:Type 2 diabetes (males):Type 2 diabetes
4 6303354 2 WFS1 G A exonic nonsynonymous SNV WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H RS734312 Type 2 diabetes:Type 2 diabetes:Fasting blood glucose:Type 2 diabetes:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 [probe ILMN_18545] in untreated osteoblasts:Microalbuminuria:Type 2 diabetes:Gene expression of WFS1 in blood:Resistance to kuru in aged women despite likely exposure:Mitral annular calcium
4 6303955 2 WFS1 G A exonic synonymous SNV WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K RS1046314 Fasting blood glucose:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood monocytes:Mitral annular calcium
4 6304087 2 WFS1 A G exonic synonymous SNV WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S
4 6594947 1 MAN2B2 A C exonic nonsynonymous SNV MAN2B2:NM_001292038:exon6:c.A728C:p.Q243P,MAN2B2:NM_015274:exon6:c.A728C:p.Q243P RS2301796 LDL cholesterol:LDL cholesterol:Total cholesterol:Serum ratio of (3-methoxytyrosine)/(hypoxanthine):Comorbid depressive syndrome and alcohol dependence:Birth weight
4 6596360 1 MAN2B2 G A exonic nonsynonymous SNV MAN2B2:NM_001292038:exon7:c.G805A:p.V269M,MAN2B2:NM_015274:exon7:c.G958A:p.V320M RS2301795 LDL cholesterol:Total cholesterol:Serum concentration of catechol sulfate:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Aortic valve calcium
4 6600012 1 MAN2B2 A G exonic nonsynonymous SNV MAN2B2:NM_001292038:exon9:c.A1183G:p.M395V,MAN2B2:NM_015274:exon9:c.A1336G:p.M446V RS2301790 LDL cholesterol:Systolic blood pressure (SBP):Aortic valve calcium:Birth weight
4 6606864 1 MAN2B2 A G exonic nonsynonymous SNV MAN2B2:NM_001292038:exon11:c.A1469G:p.N490S,MAN2B2:NM_015274:exon11:c.A1622G:p.N541S RS2301788 Systolic blood pressure (SBP):Aortic valve calcium:Birth weight
4 6619165 2 MAN2B2 A G exonic synonymous SNV MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L
4 6698667 2 S100P T C exonic synonymous SNV S100P:NM_005980:exon2:c.T186C:p.D62D
4 6698706 2 S100P A C exonic synonymous SNV S100P:NM_005980:exon2:c.A225C:p.I75I
4 7765495 1 AFAP1 G T exonic synonymous SNV AFAP1:NM_198595:exon17:c.C2190A:p.T730T,AFAP1:NM_001134647:exon18:c.C2442A:p.T814T RS2240053 Chronic kidney disease:Urinary albumin-to-creatinine ratio:Bipolar disorder
4 7774610 1 AFAP1 C T exonic synonymous SNV AFAP1:NM_198595:exon15:c.G1938A:p.A646A,AFAP1:NM_001134647:exon16:c.G2190A:p.A730A RS2276967 Chronic kidney disease:Urinary albumin-to-creatinine ratio:Bipolar disorder:Gene expression of AFAP1 in normal prepouch ileum:Salmonella-induced pyroptosis
4 8228731 2 SH3TC1 T C exonic nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P
4 8228894 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D
4 8229218 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L
4 8229326 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P
4 8238151 1 SH3TC1 C T exonic synonymous SNV SH3TC1:NM_001318480:exon16:c.C3324T:p.T1108T,SH3TC1:NM_018986:exon16:c.C3552T:p.T1184T
4 8242466 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A
4 8602884 2 CPZ T C exonic synonymous SNV CPZ:NM_003652:exon2:c.T123C:p.S41S,CPZ:NM_001014447:exon3:c.T156C:p.S52S
4 8602935 2 CPZ A G exonic synonymous SNV CPZ:NM_003652:exon2:c.A174G:p.S58S,CPZ:NM_001014447:exon3:c.A207G:p.S69S
4 8616096 2 CPZ T C exonic synonymous SNV CPZ:NM_003652:exon8:c.T1341C:p.D447D,CPZ:NM_001014447:exon9:c.T1374C:p.D458D,CPZ:NM_001014448:exon9:c.T963C:p.D321D
4 8616179 2 CPZ T C exonic nonsynonymous SNV CPZ:NM_003652:exon8:c.T1424C:p.I475T,CPZ:NM_001014447:exon9:c.T1457C:p.I486T,CPZ:NM_001014448:exon9:c.T1046C:p.I349T
4 8621194 2 CPZ A G exonic synonymous SNV CPZ:NM_003652:exon10:c.A1776G:p.P592P,CPZ:NM_001014447:exon11:c.A1809G:p.P603P,CPZ:NM_001014448:exon11:c.A1398G:p.P466P
4 13606576 2 BOD1L1 A T exonic nonsynonymous SNV BOD1L1:NM_148894:exon10:c.T1948A:p.L650I RS1971278 Height:PROP taste detection threshold:Years of education:Parkinson's disease:College completion
4 15690233 2 FAM200B C A exonic nonsynonymous SNV FAM200B:NM_001145191:exon2:c.C1633A:p.H545N RS6449160 Serum creatinine
4 17586703 2 LAP3 T C exonic synonymous SNV LAP3:NM_015907:exon6:c.T648C:p.A216A RS3733576 Gene expression of probe 235105_at in lymphoblastoid cell lines:Gene expression of MED28 [probe 222636_at] in lymphoblastoid cell lines:Gene expression of FAM184B [probe 233823_at] in lymphoblastoid cell lines:Gene expression of MED28 [probe 228992_at] in lymphoblastoid cell lines:Gene expression of LAP3 [probe 217933_s_at] in lymphoblastoid cell lines:Gene expression of probe 227504_s_at in lymphoblastoid cell lines:Gene expression of MED28 [probe 222635_s_at] in lymphoblastoid cell lines:Gene expression of probe 227505_at in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235105_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[233823_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[235288_at] in lymphoblastoid cell lines:Gene expression of LAP3 probe[217933_s_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227504_s_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[228992_at] in lymphoblastoid cell lines:Gene expression of KIAA1276 probe[227505_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[222635_s_at] in lymphoblastoid cell lines:Gene expression of MED28 probe[222636_at] in lymphoblastoid cell lines:Gene expression of LAP3 in lymphoblastoid cell lines:Gene expression of KIAA1276 in lymphoblastoid cell lines:Serum creatinine:Height
4 17634213 2 FAM184B A G exonic nonsynonymous SNV FAM184B:NM_015688:exon18:c.T3125C:p.V1042A
4 25236017 1 PI4K2B T C exonic nonsynonymous SNV PI4K2B:NM_018323:exon1:c.T232C:p.S78P
4 25253995 1 PI4K2B C T exonic synonymous SNV PI4K2B:NM_018323:exon2:c.C321T:p.A107A RS313567 Triglycerides
4 37836302 2 PGM2 T C exonic synonymous SNV PGM2:NM_018290:exon3:c.T312C:p.S104S
4 38016395 2 TBC1D1 T G exonic nonsynonymous SNV TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G
4 38937372 2 FAM114A1 T C exonic synonymous SNV FAM114A1:NM_001350631:exon11:c.T876C:p.S292S,FAM114A1:NM_001350633:exon11:c.T1116C:p.S372S,FAM114A1:NM_001350634:exon11:c.T903C:p.S301S,FAM114A1:NM_001330764:exon12:c.T876C:p.S292S,FAM114A1:NM_001350632:exon12:c.T1491C:p.S497S,FAM114A1:NM_138389:exon13:c.T1497C:p.S499S RS2271031 Stabilized warfarin dose:Differential exon level expression of FAM114A1 [probe 2724140] in brain cortex:Triglycerides change with statins:Lp-PLA2 mass:Gene expression of [probe 3440433 centered at chr4:38463676] in blood:Gene expression of KLHL5 in blood:Gene expression of TLR10 in blood:Serum concentration of aspartate:Resistance to kuru in aged women despite likely exposure:Hypertension (early onset hypertension)
4 40428010 2 RBM47 T C exonic nonsynonymous SNV RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V RS278981 LDL cholesterol:Simpson-Angus Scale:Urinary albumin-to-creatinine ratio:Microalbuminuria:Serum ratio of (10-nonadecenoate (19:1n9))/(phenyllactate (PLA)):Sporadic Creutzfeldt-Jakob disease
4 40438576 2 RBM47 A G exonic synonymous SNV RBM47:NM_001098634:exon5:c.T1212C:p.G404G RS2307046 Irritible bowel syndrome:Differential exon level expression of RBM47 [probe 2766803] in peripheral blood mononuclear cells:Variant Creutzfeldt-Jakob disease:Birth weight
4 40440215 2 RBM47 T C exonic synonymous SNV RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E RS2291580 HDL cholesterol:Advanced age-related macular degeneration
4 40440854 2 RBM47 G C exonic synonymous SNV RBM47:NM_019027:exon3:c.C57G:p.S19S,RBM47:NM_001098634:exon4:c.C57G:p.S19S
4 41992677 2 SLC30A9 C G exonic synonymous SNV SLC30A9:NM_006345:exon1:c.C9G:p.P3P
4 42003671 2 SLC30A9 A G exonic nonsynonymous SNV SLC30A9:NM_006345:exon2:c.A148G:p.M50V RS1047626 Gene expression of SLC30A9 [probe 229500_at] in lymphoblastoid cell lines:Gene expression of probe 236097_at in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in lymphoblastoid cell lines:Neuroticism:Differential exon level expression of SLC30A9 [probe 2725395] in brain cortex:Major depressive disorder:Lp-PLA2 activity:Diastolic blood pressure (DBP):Gene expression of SLC30A9 [probeset 229500_at] in sputum
4 42022464 2 SLC30A9 C A exonic synonymous SNV SLC30A9:NM_006345:exon4:c.C366A:p.G122G RS15857 Gene expression of probe 236097_at in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 229500_at] in lymphoblastoid cell lines:Gene expression of SLC30A9 [probe 202614_at] in lymphoblastoid cell lines:Serum ratio of (cysteine-glutathione disulfide)/(indolepropionate):Diastolic blood pressure (DBP)
4 47560163 1 ATP10D C A exonic synonymous SNV ATP10D:NM_020453:exon12:c.C2307A:p.I769I RS11729411 HDL cholesterol:Triglycerides
4 47901476 1 NFXL1 G A exonic nonsynonymous SNV NFXL1:NM_001278623:exon6:c.C737T:p.P246L,NFXL1:NM_001278624:exon6:c.C737T:p.P246L,NFXL1:NM_152995:exon6:c.C737T:p.P246L RS12651301 HOMA-B
4 57219592 2 AASDH G A exonic synonymous SNV AASDH:NM_001286670:exon6:c.C99T:p.D33D,AASDH:NM_001286668:exon8:c.C1254T:p.D418D,AASDH:NM_001286669:exon8:c.C1095T:p.D365D,AASDH:NM_001323893:exon8:c.C1095T:p.D365D,AASDH:NM_001323899:exon8:c.C423T:p.D141D,AASDH:NM_001286671:exon9:c.C1554T:p.D518D,AASDH:NM_001286672:exon9:c.C1554T:p.D518D,AASDH:NM_001323890:exon9:c.C1554T:p.D518D,AASDH:NM_001323892:exon9:c.C1554T:p.D518D,AASDH:NM_181806:exon9:c.C1554T:p.D518D RS6554348 Fasting insulin:HOMA-B:Gene expression of AASDH in peripheral blood monocytes:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression change of PPAT (ENSG00000128059) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of PPAT (ENSG00000128059) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of AASDH (ENSG00000157426) in dendritic cells
4 57843320 2 NOA1 A G exonic synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C
4 68374597 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon10:c.G1839A:p.S613S
4 68380215 2 CENPC G A exonic nonsynonymous SNV CENPC:NM_001812:exon8:c.C1021T:p.L341F RS11250 Parkinson's disease (PD):Differential exon level expression of CENPC1 [probe 2771679] in peripheral blood mononuclear cells:Differential exon level expression of CENPC1 [probe 2771679] in brain cortex:Total cholesterol:Chronic kidney disease
4 68384008 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon7:c.G696A:p.S232S RS355510 Total cholesterol:Chronic kidney disease
4 69203551 2 YTHDC1 A T exonic synonymous SNV YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_001330698:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S
4 71705262 2 GRSF1 A G exonic nonsynonymous SNV GRSF1:NM_002092:exon1:c.T283C:p.S95P
4 72618296 2 GC T C exonic nonsynonymous SNV GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R
4 74318330 2 AFP A G exonic synonymous SNV AFP:NM_001134:exon12:c.A1641G:p.T547T
4 74863997 2 CXCL5 T C exonic synonymous SNV CXCL5:NM_002994:exon2:c.A168G:p.Q56Q RS425535 Stabilized warfarin dose:HOMA-IR:Fasting insulin:HOMA-B:Serum concentration of threonine
4 77192868 2 FAM47E;FAM47E-STBD1 G A exonic nonsynonymous SNV FAM47E:NM_001136570:exon5:c.G817A:p.E273K,FAM47E:NM_001242936:exon5:c.G523A:p.E175K,FAM47E-STBD1:NM_001242939:exon5:c.G817A:p.E273K RS3733250 Triglycerides:Serum creatinine:Cystatin C in serum:Parkinson's disease (PD):Gene expression of SCARB2 in blood:Gene expression of CXCL10 in normal prepouch ileum:Parkinson's disease
4 79387464 2 FRAS1 A G exonic nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E RS7684722 Tardive dyskinesia
4 83788344 2 SEC31A A T exonic synonymous SNV SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G
4 83838217 2 THAP9 G A exonic nonsynonymous SNV THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I
4 83839799 2 THAP9 A G exonic nonsynonymous SNV THAP9:NM_024672:exon5:c.A2434G:p.N812D,THAP9:NM_001317776:exon6:c.A2002G:p.N668D
4 84376743 2 HELQ A T exonic nonsynonymous SNV HELQ:NM_001297755:exon1:c.T104A:p.V35E,HELQ:NM_001297758:exon1:c.T104A:p.V35E,HELQ:NM_001297759:exon1:c.T104A:p.V35E,HELQ:NM_133636:exon1:c.T104A:p.V35E
4 87809387 2 C4orf36 G T exonic nonsynonymous SNV C4orf36:NM_144645:exon3:c.C107A:p.S36Y
4 88258483 2 HSD17B11 T C exonic nonsynonymous SNV HSD17B11:NM_016245:exon7:c.A848G:p.Q283R RS9991501 Fasting blood glucose:Total cholesterol:Microalbuminuria
4 95539267 2 PDLIM5 G A exonic nonsynonymous SNV PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T
4 95561459 2 PDLIM5 A G exonic nonsynonymous SNV PDLIM5:NM_001256425:exon8:c.A166G:p.T56A,PDLIM5:NM_001256428:exon8:c.A775G:p.T259A,PDLIM5:NM_001011513:exon9:c.A814G:p.T272A,PDLIM5:NM_006457:exon9:c.A1141G:p.T381A,PDLIM5:NM_001256427:exon10:c.A832G:p.T278A,PDLIM5:NM_001256426:exon13:c.A1228G:p.T410A RS7690296 Prostate cancer:Urinary albumin-to-creatinine ratio:Gene expression of PDLIM5 in blood:Serum ratio of (3-hydroxybutyrate (BHBA))/(biliverdin):College completion:Years of education:Aortic valve calcium
4 95578588 2 PDLIM5 G A exonic nonsynonymous SNV PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N
4 103514658 2 NFKB1 T C exonic synonymous SNV NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_001319226:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A
4 106861730 2 NPNT A G exonic nonsynonymous SNV NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V RS4340795 HDL cholesterol change with statins:Asthma, childhood onset:Body mass index (BMI):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 108641300 2 PAPSS1 T C exonic synonymous SNV PAPSS1:NM_005443:exon1:c.A36G:p.K12K RS973126 Eye color:Total cholesterol:Serum creatinine:Gene expression of PAPSS1 in CD4+ lymphocytes:Gene expression of PAPSS1 [transcript NM_005443, probe A_23_P144465] in liver:Serum concentration of guanosine:Gene expression of PAPSS1 in normal prepouch ileum:Obesity with early age of onset (age >2)
4 110581363 2 MCUB T A exonic nonsynonymous SNV MCUB:NM_017918:exon3:c.T188A:p.I63N RS4698744 Total cholesterol:Type 2 diabetes:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
4 110737389 2 GAR1 T C exonic synonymous SNV GAR1:NM_018983:exon2:c.T69C:p.G23G,GAR1:NM_032993:exon2:c.T69C:p.G23G
4 113066831 2 C4orf32 G A exonic nonsynonymous SNV C4orf32:NM_152400:exon1:c.G95A:p.G32E
4 113199075 2 TIFA A G exonic synonymous SNV TIFA:NM_052864:exon2:c.T498C:p.Y166Y RS701759 Triglycerides:Systolic blood pressure (SBP):Obesity with early age of onset (age >2)
4 113352397 2 ALPK1 G A exonic nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1460A:p.G487D,ALPK1:NM_001102406:exon11:c.G1694A:p.G565D,ALPK1:NM_025144:exon11:c.G1694A:p.G565D RS2074388 Schizophrenia:Differential exon level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Partial epilepsy:Plasma aldosterone concentration:Plasma aldosterone concentration corrected by plasma renin activity:Serum ratio of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Bipolar disorder:Chronic kidney disease
4 113352628 2 ALPK1 A G exonic nonsynonymous SNV ALPK1:NM_001253884:exon10:c.A1691G:p.H564R,ALPK1:NM_001102406:exon11:c.A1925G:p.H642R,ALPK1:NM_025144:exon11:c.A1925G:p.H642R RS13148353 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
4 113352899 2 ALPK1 G A exonic nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1962A:p.M654I,ALPK1:NM_001102406:exon11:c.G2196A:p.M732I,ALPK1:NM_025144:exon11:c.G2196A:p.M732I RS2074379 Schizophrenia:Differential exon level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Partial epilepsy:Plasma aldosterone concentration:Plasma aldosterone concentration corrected by plasma renin activity:Serum ratio of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Bipolar disorder:Chronic kidney disease
4 113353285 2 ALPK1 T C exonic nonsynonymous SNV ALPK1:NM_001253884:exon10:c.T2348C:p.M783T,ALPK1:NM_001102406:exon11:c.T2582C:p.M861T,ALPK1:NM_025144:exon11:c.T2582C:p.M861T RS11726117 Schizophrenia:Differential exon level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Serum ratio of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol)
4 113359703 2 ALPK1 A G exonic synonymous SNV ALPK1:NM_001253884:exon12:c.A3018G:p.R1006R,ALPK1:NM_001102406:exon13:c.A3252G:p.R1084R,ALPK1:NM_025144:exon13:c.A3252G:p.R1084R RS231247 Schizophrenia:Differential exon level expression of ALPK1 [probe 2739863] in peripheral blood mononuclear cells:Sporadic amyotrophic lateral sclerosis (ALS) age of onset:Asthma:Gene expression of AC023886.7 in blood:Serum ratio of (1-palmitoylglycerophosphoethanolamine)/(1-stearoylglycerophosphoinositol):Systolic blood pressure (SBP):Bipolar disorder
4 122742217 2 CCNA2 T C exonic nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V RS769242 Triglycerides
4 130030652 2 C4orf33 A G exonic nonsynonymous SNV C4orf33:NM_001099783:exon5:c.A319G:p.M107V,C4orf33:NM_173487:exon5:c.A319G:p.M107V RS337277 Gene expression of LOC132321 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C4orf33 [probe 1552370_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of C4orf33 in Lymphoblastoid cell lines:Autism:Gene expression of C4orf33 in CD4+ lymphocytes:Gene expression of AC093826.1 in blood:Gene expression of C4ORF33 in liver:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Infant head circumference:Gene expression of C4orf33 in normal prepouch ileum:Tetrology of fallot:College completion
4 140005294 2 ELF2 A G exonic synonymous SNV ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I
4 144467104 2 SMARCA5 T C exonic synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N
4 153633359 2
4 154020114 2
4 159076826 2 FAM198B C T exonic synonymous SNV FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S RS6830702 HOMA-B:Fasting blood glucose:Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy):Birth weight
4 159601676 2 ETFDH C T exonic nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I RS11559290 Lp-PLA2 mass:HDL cholesterol:Triglycerides:Birth weight:Primary rhegmatogenous retinal detachment
4 164048199 2 NAF1 G C exonic nonsynonymous SNV NAF1:NM_001128931:exon8:c.C1102G:p.L368V
4 164085425 2 NAF1 T C exonic nonsynonymous SNV NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V RS4691896 HOMA-B:Urinary albumin-to-creatinine ratio:Bipolar disorder
4 164435265 1 TMA16 A C exonic nonsynonymous SNV TMA16:NM_018352:exon4:c.A194C:p.Q65P RS2304802 Gene expression of FLJ11184 in CEU-CHB-JPT lymphoblastoid cell lines:Serum creatinine:Microalbuminuria
4 164440581 2 TMA16 T C exonic nonsynonymous SNV TMA16:NM_018352:exon7:c.T527C:p.I176T RS1561736 Serum creatinine:Microalbuminuria
4 165890654 2 TRIM61 C T exonic synonymous SNV TRIM61:NM_001012414:exon3:c.G501A:p.R167R
4 165890663 2 TRIM61 C T exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.G492A:p.M164I
4 165890719 2 TRIM61 C G exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.G436C:p.E146Q
4 165890772 2 TRIM61 T C exonic nonsynonymous SNV TRIM61:NM_001012414:exon3:c.A383G:p.H128R
4 169799448 2 PALLD A G exonic nonsynonymous SNV PALLD:NM_001166110:exon2:c.A406G:p.S136G
4 169928842 2 CBR4 G T exonic nonsynonymous SNV CBR4:NM_032783:exon2:c.C208A:p.L70M RS2877380 LDL cholesterol:Chronic kidney disease:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:PROP taste detection threshold
4 175237408 2 CEP44 T C exonic synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T RS1553669 Gene expression of KIAA1712 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of GLRA3 in liver:Gene expression of KIAA1712 in liver:Eye color:Gene expression of KIAA1712 [transcript NM_001145314, probe A_23_P385911] in liver:Age at death with kuru exposure:Gene expression of CEP44 in normal prepouch ileum:Tetrology of fallot:College completion
4 178274565 2 NEIL3 A G exonic synonymous SNV NEIL3:NM_018248:exon8:c.A1143G:p.R381R RS2048074 Amyotrophic lateral sclerosis (ALS):Hip bone mineral density (BMD):Cystatin C in serum:Serum ratio of (erythrose)/(palmitoylcarnitine):Diabetic retinopathy in Type 2 diabetes mellitus:Hypertension (early onset hypertension)
4 178274694 2 NEIL3 T G exonic synonymous SNV NEIL3:NM_018248:exon8:c.T1272G:p.V424V RS10007075 Fasting insulin:Cystatin C in serum:Diabetic retinopathy in Type 2 diabetes mellitus
4 178274750 2 NEIL3 C T exonic nonsynonymous SNV NEIL3:NM_018248:exon8:c.C1328T:p.P443L RS13112358 Amyotrophic lateral sclerosis (ALS):Hip bone mineral density (BMD):Cystatin C in serum:Serum ratio of (erythrose)/(palmitoylcarnitine):Diabetic retinopathy in Type 2 diabetes mellitus:Hypertension (early onset hypertension)
4 178274835 2 NEIL3 A C exonic nonsynonymous SNV NEIL3:NM_018248:exon8:c.A1413C:p.Q471H RS13112390 Amyotrophic lateral sclerosis (ALS):Hip bone mineral density (BMD):Fasting insulin:Cystatin C in serum:Hypertension (early onset hypertension)
4 178281754 2 NEIL3 G A exonic nonsynonymous SNV NEIL3:NM_018248:exon9:c.G1558A:p.G520R RS1876268 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Serum concentration of citrate:Birth weight
4 178359960 2 AGA G C exonic nonsynonymous SNV AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S
4 184426387 2 ING2 C T exonic synonymous SNV ING2:NM_001564:exon1:c.C39T:p.A13A RS8872 Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Serum creatinine:Obesity with early age of onset (age >2):Diabetic retinopathy in Type 2 diabetes mellitus
4 185587165 2 PRIMPOL A G exonic nonsynonymous SNV PRIMPOL:NM_001300767:exon5:c.A116G:p.Q39R,PRIMPOL:NM_001300768:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345891:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345892:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345893:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345895:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345896:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345899:exon6:c.A503G:p.Q168R,PRIMPOL:NM_152683:exon6:c.A503G:p.Q168R
4 185686032 2 ACSL1 C T exonic synonymous SNV ACSL1:NM_001286711:exon14:c.G1305A:p.L435L,ACSL1:NM_001286708:exon15:c.G1407A:p.L469L,ACSL1:NM_001286710:exon15:c.G1407A:p.L469L,ACSL1:NM_001995:exon15:c.G1407A:p.L469L,ACSL1:NM_001286712:exon16:c.G894A:p.L298L
4 186180079 1 SNX25 C G exonic nonsynonymous SNV SNX25:NM_001317781:exon3:c.C100G:p.L34V
4 186185727 1 SNX25 C T exonic synonymous SNV SNX25:NM_001317781:exon4:c.C375T:p.S125S
4 186185732 1 SNX25 G C exonic nonsynonymous SNV SNX25:NM_001317781:exon4:c.G380C:p.R127P
4 187519206 2 FAT1 C G exonic nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N
4 190864371 1 FRG1 G A exonic nonsynonymous SNV FRG1:NM_004477:exon2:c.G77A:p.S26N
4 190874255 1 FRG1 A T exonic nonsynonymous SNV FRG1:NM_004477:exon4:c.A292T:p.T98S
4 190876204 1 FRG1 G A exonic synonymous SNV FRG1:NM_004477:exon5:c.G330A:p.K110K
4 190876242 1 FRG1 G A exonic nonsynonymous SNV FRG1:NM_004477:exon5:c.G368A:p.G123E
4 190876301 1 FRG1 C A exonic nonsynonymous SNV FRG1:NM_004477:exon5:c.C427A:p.Q143K
4 190883001 1 FRG1 C G exonic nonsynonymous SNV FRG1:NM_004477:exon8:c.C654G:p.D218E
5 1057615 2 SLC12A7 A G exonic synonymous SNV SLC12A7:NM_006598:exon22:c.T2997C:p.S999S RS2241606 Fasting blood glucose:HOMA-B
5 1081767 1 SLC12A7 C T exonic nonsynonymous SNV SLC12A7:NM_006598:exon9:c.G1222A:p.A408T RS4526148 Fasting blood glucose:HDL cholesterol:Triglycerides:Birth weight
5 5460619 2 ICE1 G C exonic nonsynonymous SNV ICE1:NM_015325:exon13:c.G1172C:p.C391S RS2619844 Total cholesterol:Height:Parkinson's disease
5 5462148 2 ICE1 G A exonic nonsynonymous SNV ICE1:NM_015325:exon13:c.G2701A:p.V901I RS2578500 Total cholesterol:Height:Parkinson's disease:Gene expression of KIAA0947 (ENSG00000164151) in dendritic cells
5 7866967 2 FASTKD3 G C exonic synonymous SNV FASTKD3:NM_024091:exon2:c.C1230G:p.A410A RS162030 Gene expression of MTRR in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with statins:Total cholesterol:Gene expression of MTRR in Temporal cortex:Gene expression of MTRR in Frontal cortex:Gene expression of MTRR in Cerebellum:Gene expression of FASTKD3 in peripheral blood monocytes:Gene expression of MTRR in peripheral blood monocytes:Salmonella-induced pyroptosis:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls
5 7868030 2 FASTKD3 T C exonic nonsynonymous SNV FASTKD3:NM_024091:exon2:c.A167G:p.K56R RS2966952 Gene expression of MTRR [probe 203200_s_at] in lymphoblastoid cell lines:Schizophrenia:Gene expression of MTRR [probe ILMN_13753] in osteoblasts:Tardive dyskinesia:Alzheimer's disease:Triglycerides change with statins:Total cholesterol:Cystatin C in serum:Gene expression of MTRR in Temporal cortex:Gene expression of MTRR in Frontal cortex:Gene expression of MTRR in Cerebellum:Gene expression of MTRR in CD4+ lymphocytes:Gene expression of MTRR in blood:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases:Gene expression of FASTKD3 in normal prepouch ileum:Gene expression of MTRR in normal prepouch ileum:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in non-Alzheimer's disease samples:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls:Primary rhegmatogenous retinal detachment:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy cases
5 10239278 1 FAM173B C T exonic synonymous SNV FAM173B:NM_001258388:exon2:c.G207A:p.P69P,FAM173B:NM_001258389:exon2:c.G207A:p.P69P,FAM173B:NM_199133:exon2:c.G207A:p.P69P RS2252505 Radiation response to therapy (radiation AUC)
5 10254817 1 CCT5 A G exonic synonymous SNV CCT5:NM_001306153:exon3:c.A135G:p.G45G,CCT5:NM_001306156:exon3:c.A84G:p.G28G,CCT5:NM_012073:exon3:c.A198G:p.G66G RS2578617 Gene expression of CCT5 [probe 229068_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Gene expression of CCT5 (probeID ILMN_1706246) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CCT5 (probeID ILMN_1706246) in temporal cortex in Alzheimer's disease cases and controls
5 10256161 1 CCT5 T C exonic synonymous SNV CCT5:NM_001306154:exon3:c.T261C:p.R87R,CCT5:NM_001306155:exon3:c.T147C:p.R49R,CCT5:NM_001306153:exon4:c.T363C:p.R121R,CCT5:NM_001306156:exon4:c.T312C:p.R104R,CCT5:NM_012073:exon4:c.T426C:p.R142R RS1042392 Total cholesterol:HDL cholesterol:Microalbuminuria:Gene expression of CCT5 (probeID ILMN_1706246) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CCT5 (probeID ILMN_1706246) in temporal cortex in Alzheimer's disease cases and controls
5 16673975 2 MYO10 C G exonic nonsynonymous SNV MYO10:NM_012334:exon36:c.G4988C:p.S1663T RS25901 Triglycerides:HDL cholesterol change with statins:Cystatin C in serum:Waist hip ratio:Gene expression change of FAM134B (ENSG00000154153) in dendritic cells after treatment with Mycobacterium tuberculosis:Diabetic retinopathy in Type 2 diabetes mellitus:Salmonella-induced pyroptosis
5 21975219 2 CDH12 A G exonic synonymous SNV CDH12:NM_001317227:exon3:c.T507C:p.V169V,CDH12:NM_001317228:exon4:c.T507C:p.V169V,CDH12:NM_004061:exon6:c.T507C:p.V169V
5 21975244 2 CDH12 A C exonic nonsynonymous SNV CDH12:NM_001317227:exon3:c.T482G:p.L161W,CDH12:NM_001317228:exon4:c.T482G:p.L161W,CDH12:NM_004061:exon6:c.T482G:p.L161W
5 21975363 2 CDH12 C T exonic synonymous SNV CDH12:NM_001317227:exon3:c.G363A:p.E121E,CDH12:NM_001317228:exon4:c.G363A:p.E121E,CDH12:NM_004061:exon6:c.G363A:p.E121E
5 32403346 2 ZFR C T exonic nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I RS4867440 Spine bone mineral density (BMD):3-Aminoisobutyrate concentration:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
5 33989518 1 AMACR C T exonic nonsynonymous SNV AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K RS2278008 LDL cholesterol change with statins:Serum creatinine:Gene expression of AMACR in peripheral blood monocytes:Total cholesterol:HDL cholesterol:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases and controls
5 33998883 1 AMACR A G exonic nonsynonymous SNV AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S RS2287939 Gene expression of AMACR [probe 209426_s_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Schizophrenia:Simpson-Angus Scale:Serum creatinine:Total cholesterol:LDL cholesterol:Gene expression of AMACR in CD4+ lymphocytes:Birth weight:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SLC45A2 (ENSG00000164175) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in non-Alzheimer's disease samples:Gene expression of AMACR (probeID ILMN_2367172) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases
5 34824555 1 RAI14 G T exonic nonsynonymous SNV RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S RS1048944 Rheumatoid arthritis
5 35709095 2 SPEF2 C T exonic nonsynonymous SNV SPEF2:NM_024867:exon19:c.C2711T:p.A904V RS13170082 Advanced age-related macular degeneration (geographic atrophy)
5 37364443 2 NUP155 C T exonic synonymous SNV NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L
5 38950776 2 RICTOR G A exonic synonymous SNV RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S RS2115949 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
5 40852451 2 CARD6 C G exonic synonymous SNV CARD6:NM_032587:exon3:c.C1017G:p.T339T
5 43492978 2 C5orf34 G A exonic synonymous SNV C5orf34:NM_198566:exon9:c.C1329T:p.N443N
5 43509348 2 C5orf34 T A exonic nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S
5 52856504 2 NDUFS4 G C exonic synonymous SNV NDUFS4:NM_001318051:exon1:c.G12C:p.V4V,NDUFS4:NM_002495:exon1:c.G12C:p.V4V RS2279516 Gene expression of NDUFS4 [transcript NM_002495, probe A_23_P257198] in liver:College completion
5 52942083 2 NDUFS4 A C exonic synonymous SNV NDUFS4:NM_001318051:exon3:c.A198C:p.G66G,NDUFS4:NM_002495:exon3:c.A198C:p.G66G RS31304 Neuroticism:Fasting blood glucose:Triglycerides change with statins:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
5 52942197 2 NDUFS4 A G exonic synonymous SNV NDUFS4:NM_001318051:exon3:c.A312G:p.R104R,NDUFS4:NM_002495:exon3:c.A312G:p.R104R RS31303 Differential exon level expression of NDUFS4 [probe 2809437] in peripheral blood mononuclear cells:Fasting insulin:Triglycerides:LDL cholesterol:Total cholesterol:Waist hip ratio:College completion
5 53606295 2 ARL15 T C exonic synonymous SNV ARL15:NM_019087:exon1:c.A15G:p.R5R RS35941 Irritible bowel syndrome:Total cholesterol:LDL cholesterol:Serum creatinine:Chronic kidney disease:Gene expression of PKP3 in peripheral blood monocytes:Systolic blood pressure (SBP):PROP taste detection threshold:Transmission distortion:Maternal transmission distortion:Advanced age-related macular degeneration (geographic atrophy):Salmonella-induced pyroptosis
5 53814052 2 SNX18 T C exonic synonymous SNV SNX18:NM_001102575:exon1:c.T270C:p.P90P,SNX18:NM_001145427:exon1:c.T270C:p.P90P,SNX18:NM_052870:exon1:c.T270C:p.P90P
5 53814394 2 SNX18 T C exonic synonymous SNV SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G
5 56161787 2 MAP3K1 G A exonic synonymous SNV MAP3K1:NM_005921:exon6:c.G1284A:p.T428T RS832575 Eye color:Gene expression of NP_714917.1 in blood cells in Celiac disease:Gene expression of MGC33648 [probe ILMN_28708] in osteoblasts:Lp-PLA2 mass:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Temporal cortex:Gene expression of C5orf35 in CD4+ lymphocytes:Waist hip ratio:Height:Gene expression of C5orf35 in blood:Gene expression of C5orf35 [probeset 238465_at] in sputum:Bipolar disorder:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in non-Alzheimer's disease samples:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Progressive Supranuclear Palsy cases
5 56526783 2 GPBP1 G A exonic synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G
5 66462069 1 MAST4 A G exonic synonymous SNV MAST4:NM_001290227:exon26:c.A6279G:p.T2093T,MAST4:NM_001297651:exon26:c.A6480G:p.T2160T,MAST4:NM_001290226:exon27:c.A6444G:p.T2148T,MAST4:NM_015183:exon28:c.A6495G:p.T2165T,MAST4:NM_001164664:exon29:c.A7062G:p.T2354T
5 68531253 1 CDK7 C T exonic nonsynonymous SNV CDK7:NM_001324071:exon2:c.C65T:p.T22I
5 68616331 1 CCDC125 C T exonic nonsynonymous SNV CCDC125:NM_001297696:exon2:c.G37A:p.V13M,CCDC125:NM_176816:exon2:c.G37A:p.V13M RS10471774 Premature ovarian failure:Plasma aldosterone concentration:Gene expression of CCDC125 in blood:Gene expression of CCDC125 [probeset 1553542_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TAF9 (ENSG00000085231) in dendritic cells treated with Mycobacterium tuberculosis:Hypertension (early onset hypertension)
5 70281273 2 NAIP C T exonic nonsynonymous SNV NAIP:NM_022892:exon10:c.G1117A:p.V373M,NAIP:NM_001346870:exon12:c.G1603A:p.V535M,NAIP:NM_004536:exon12:c.G1603A:p.V535M
5 70751818 2 BDP1 T G exonic nonsynonymous SNV BDP1:NM_018429:exon1:c.T114G:p.D38E RS3748043 PROP taste detection threshold
5 70806711 2 BDP1 C G exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.C3792G:p.I1264M RS715747 Triglycerides:Triglycerides
5 70806958 2 BDP1 G A exonic nonsynonymous SNV BDP1:NM_018429:exon17:c.G4039A:p.V1347M RS6886336 Triglycerides:PROP taste detection threshold
5 70858261 1 BDP1 G A exonic nonsynonymous SNV BDP1:NM_018429:exon38:c.G7657A:p.E2553K
5 70945075 2 MCCC2 A G exonic synonymous SNV MCCC2:NM_022132:exon14:c.A1368G:p.A456A
5 71490962 2 MAP1B A G exonic nonsynonymous SNV MAP1B:NM_001324255:exon4:c.A1402G:p.I468V,MAP1B:NM_005909:exon5:c.A1780G:p.I594V RS1866374 2 hour glucose:Serum creatinine:Body mass index (BMI):Refractive error
5 72348272 1 FCHO2 A G exonic nonsynonymous SNV FCHO2:NM_001146032:exon12:c.A1012G:p.M338V,FCHO2:NM_138782:exon13:c.A1111G:p.M371V RS185435 Rheumatoid arthritis, gender differentiated:HOMA-B:HOMA-IR:Total cholesterol:Height:Maternal transmission distortion:Birth weight:Transmission distortion
5 73207372 1 ARHGEF28 T A exonic nonsynonymous SNV ARHGEF28:NM_001244364:exon27:c.T3981A:p.H1327Q,ARHGEF28:NM_001080479:exon35:c.T4920A:p.H1640Q,ARHGEF28:NM_001177693:exon35:c.T4920A:p.H1640Q RS1478453 LDL cholesterol:Barnes Akathisia Rating Scale:Simpson-Angus Scale
5 73981270 2 HEXB T C exonic nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S
5 75003678 1 POC5 T C exonic nonsynonymous SNV POC5:NM_152408:exon2:c.A32G:p.H11R,POC5:NM_001099271:exon3:c.A107G:p.H36R RS2307111 Eye color:Irritible bowel syndrome:LDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of [probe 5360296 centered at chr5:74934759] in blood:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Obesity class:Advanced age-related macular degeneration
5 75932869 2 IQGAP2 C T exonic synonymous SNV IQGAP2:NM_001285461:exon5:c.C450T:p.D150D,IQGAP2:NM_001285462:exon5:c.C450T:p.D150D,IQGAP2:NM_001285460:exon15:c.C1641T:p.D547D,IQGAP2:NM_006633:exon16:c.C1791T:p.D597D RS2910819 Cystatin C in serum:Aortic valve calcium:Gene expression of F2R in normal prepouch ileum
5 76128521 2 F2RL1 G A exonic nonsynonymous SNV F2RL1:NM_005242:exon2:c.G89A:p.S30N
5 78573790 2 JMY A T exonic nonsynonymous SNV JMY:NM_152405:exon2:c.A1090T:p.M364L RS13182512 Fasting insulin:HOMA-IR:Total cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Refractive error:Years of education:Diabetic retinopathy in Type 2 diabetes mellitus
5 78596044 2 JMY T C exonic synonymous SNV JMY:NM_152405:exon5:c.T1596C:p.D532D RS10514159 Alzheimer's disease:2 hour glucose:Fasting insulin:HOMA-IR:HOMA-B:Total cholesterol:Chronic kidney disease:Partial epilepsy:HDL cholesterol:Total cholesterol:Sporadic Creutzfeldt-Jakob disease:Diabetic retinopathy in Type 2 diabetes mellitus:Refractive error
5 79945871 2 MTRNR2L2 G A exonic nonsynonymous SNV MTRNR2L2:NM_001190470:exon1:c.C35T:p.S12L
5 81354389 1 ATG10 T C exonic nonsynonymous SNV ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P RS3734114 Gene expression of ATG10 [probe 1570523_s_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Schizophrenia:Rheumatoid arthritis:Partial epilepsy:Late onset Alzheimer's disease
5 89769728 2 MBLAC2 T C exonic nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A
5 95234350 1 ELL2 A G exonic synonymous SNV ELL2:NM_012081:exon8:c.T1119C:p.P373P RS3777204 2 hour glucose:IGP61:IGP65
5 96086334 1 CAST G C exonic nonsynonymous SNV CAST:NM_001042446:exon15:c.G1061C:p.C354S,CAST:NM_001284213:exon15:c.G1007C:p.C336S,CAST:NM_001330630:exon15:c.G1061C:p.C354S,CAST:NM_001042444:exon16:c.G1100C:p.C367S,CAST:NM_001042445:exon16:c.G1118C:p.C373S,CAST:NM_001284212:exon16:c.G1100C:p.C367S,CAST:NM_001330634:exon16:c.G1127C:p.C376S,CAST:NM_001330631:exon17:c.G1184C:p.C395S,CAST:NM_001330632:exon17:c.G1157C:p.C386S,CAST:NM_001330633:exon17:c.G1166C:p.C389S,CAST:NM_173060:exon17:c.G1157C:p.C386S,CAST:NM_001042440:exon18:c.G1349C:p.C450S,CAST:NM_001042443:exon18:c.G1223C:p.C408S,CAST:NM_001330626:exon18:c.G1376C:p.C459S,CAST:NM_001330627:exon18:c.G1349C:p.C450S,CAST:NM_001330628:exon18:c.G1304C:p.C435S,CAST:NM_001042441:exon19:c.G1415C:p.C472S,CAST:NM_001190442:exon19:c.G1184C:p.C395S,CAST:NM_001330629:exon19:c.G1388C:p.C463S,CAST:NM_001042442:exon20:c.G1406C:p.C469S,CAST:NM_001750:exon20:c.G1472C:p.C491S RS754615 Differential splicing of ARTS-1 [probeset 2868133] in lymphoblastoid cell lines:Parkinson's disease:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls:Birth weight
5 98109838 2 RGMB A C exonic nonsynonymous SNV RGMB:NM_001012761:exon3:c.A187C:p.S63R
5 99941705 2
5 108516459 1 FER C T exonic nonsynonymous SNV FER:NM_001308031:exon9:c.C953T:p.A318V,FER:NM_001308028:exon16:c.C1535T:p.A512V,FER:NM_005246:exon18:c.C2060T:p.A687V
5 108516535 1 FER A T exonic synonymous SNV FER:NM_001308031:exon9:c.A1029T:p.G343G,FER:NM_001308028:exon16:c.A1611T:p.G537G,FER:NM_005246:exon18:c.A2136T:p.G712G
5 108516541 1 FER T C exonic synonymous SNV FER:NM_001308031:exon9:c.T1035C:p.Y345Y,FER:NM_001308028:exon16:c.T1617C:p.Y539Y,FER:NM_005246:exon18:c.T2142C:p.Y714Y
5 109181682 2 MAN2A1 A T exonic synonymous SNV MAN2A1:NM_002372:exon18:c.A2817T:p.S939S RS3186988 Total cholesterol:LDL cholesterol:Triglycerides change with statins:College completion:Years of education:Obesity with early age of onset (age >2):Refractive error
5 112176756 2 APC T A exonic nonsynonymous SNV APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D RS459552 C10:2 / C16-OH:C10:2:Height:Radiation response to therapy (radiation AUC):Body mass index (BMI):PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy)
5 112328377 2 DCP2 A G exonic synonymous SNV DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L RS3733969 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Birth weight:Gene expression change of REEP5 (ENSG00000129625) in dendritic cells after treatment with Mycobacterium tuberculosis
5 112384802 2 MCC G A exonic synonymous SNV MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D RS6594664 Body mass index (BMI):Paternal transmission distortion:Maternal transmission distortion:Transmission distortion:Obesity with early age of onset (age >2)
5 112439941 2 MCC T C exonic nonsynonymous SNV MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R
5 112479004 2 MCC T C exonic synonymous SNV MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T
5 112929013 1 YTHDC2 T A exonic nonsynonymous SNV YTHDC2:NM_001345976:exon27:c.T3326A:p.L1109Q,YTHDC2:NM_001345975:exon28:c.T3740A:p.L1247Q,YTHDC2:NM_022828:exon29:c.T4226A:p.L1409Q RS1132528 Total cholesterol change with statins:LDL cholesterol:Triglycerides change with statins:College completion:Gene expression of YTHDC2 (probeID ILMN_1725760) in cerebellum in Alzheimer's disease cases and controls:Years of education
5 115428334 1 COMMD10 G T exonic synonymous SNV COMMD10:NM_001308080:exon4:c.G294T:p.T98T,COMMD10:NM_016144:exon4:c.G336T:p.T112T
5 115469773 1 COMMD10 C T exonic synonymous SNV COMMD10:NM_001308080:exon5:c.C366T:p.T122T,COMMD10:NM_016144:exon5:c.C408T:p.T136T RS2048220 Serum creatinine
5 118484804 2 DMXL1 G A exonic synonymous SNV DMXL1:NM_001290321:exon18:c.G3282A:p.E1094E,DMXL1:NM_001290322:exon18:c.G2763A:p.E921E,DMXL1:NM_005509:exon18:c.G3282A:p.E1094E,DMXL1:NM_001349239:exon19:c.G3282A:p.E1094E,DMXL1:NM_001349240:exon19:c.G3282A:p.E1094E RS7734532 Total cholesterol change with statins
5 130766662 2 RAPGEF6 T C exonic nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R RS1291602 Gene expression of CDC42SE2 [probe 1552613_s_at] in lymphoblastoid cell lines:Gene expression of probe 229026_at in lymphoblastoid cell lines:Gene expression of CDC42SE2 [probe 1552612_at] in lymphoblastoid cell lines:Premature ovarian failure:Total cholesterol:LDL cholesterol:HDL cholesterol:Triglycerides change with statins:Lp-PLA2 mass:Height:Gene expression of CDC42SE2 in blood:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease
5 131007949 1 FNIP1 C T exonic nonsynonymous SNV FNIP1:NM_001008738:exon13:c.G2104A:p.E702K,FNIP1:NM_001346114:exon13:c.G2053A:p.E685K,FNIP1:NM_133372:exon14:c.G2188A:p.E730K
5 131602166 1 PDLIM4 T C exonic synonymous SNV PDLIM4:NM_001131027:exon3:c.T255C:p.G85G,PDLIM4:NM_003687:exon3:c.T255C:p.G85G RS1007602 Height:Eye color:Longstanding arthritis:Triglycerides:Alzheimer's disease:Fasting blood glucose:Triglycerides change with statins:Total cholesterol change with statins:Triglycerides:HDL cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of SLC22A4 in blood:Gene expression of SLC22A5 in blood:Gene expression of PDLIM4 [probeset 218691_s_at] in sputum:Gene expression of PDLIM4 [probeset 214175_x_at] in sputum:Gene expression of PDLIM4 [probeset 214174_s_at] in sputum:Gene expression of PDLIM4 [probeset 211564_s_at] in sputum:Age at death with kuru exposure:College completion:Gene expression of SLC22A4 in normal prepouch ileum:Advanced age-related macular degeneration
5 132098242 2 8-Sep A G exonic synonymous SNV SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N
5 135276847 2 FBXL21 T C exonic unknown UNKNOWN RS31547 HDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
5 137347498 2 FAM13B G A exonic synonymous SNV FAM13B:NM_001101801:exon4:c.C153T:p.S51S,FAM13B:NM_001101800:exon5:c.C507T:p.S169S,FAM13B:NM_016603:exon5:c.C507T:p.S169S
5 137717265 2 KDM3B G A exonic nonsynonymous SNV KDM3B:NM_016604:exon6:c.G766A:p.A256T
5 139936760 2 SRA1 G T exonic stopgain SRA1:NM_001253764:exon1:c.C278A:p.S93X RS250426 Schizophrenia:Differential exon level expression of SRA1 [probe 2878362] in peripheral blood mononuclear cells:Triglycerides:Height:Gene expression of SRA1///ANKHD1-EIF4EBP3 in blood:Gene expression of ENST00000261812 in blood:Gene expression of DND1///WDR55 in blood:Gene expression of CD14 in blood:Gene expression of SLC35A4 in blood:Gene expression of NDUFA2///ENST00000261812 in blood:Aortic valve calcium
5 140048209 1 WDR55 T C exonic synonymous SNV WDR55:NM_017706:exon4:c.T393C:p.N131N
5 140048267 2 WDR55 T C exonic nonsynonymous SNV WDR55:NM_017706:exon4:c.T451C:p.C151R
5 141391532 1 GNPDA1 G A exonic synonymous SNV GNPDA1:NM_005471:exon2:c.C69T:p.R23R RS164080 LDL cholesterol:HDL cholesterol:Gene expression of RNF14 in blood
5 145439647 2 SH3RF2 T C exonic nonsynonymous SNV SH3RF2:NM_152550:exon9:c.T1774C:p.W592R
5 145890028 2 TCERG1 A G exonic synonymous SNV TCERG1:NM_001040006:exon21:c.A3057G:p.S1019S,TCERG1:NM_006706:exon22:c.A3120G:p.S1040S RS4705103 Fasting insulin:HOMA-IR:Microalbuminuria:Infant head circumference
5 148407708 2 SH3TC2 A C exonic synonymous SNV SH3TC2:NM_024577:exon11:c.T1587G:p.R529R RS1432794 Barnes Akathisia Rating Scale:HDL cholesterol change with statins
5 148682039 2
5 149360877 2 SLC26A2 T C exonic nonsynonymous SNV SLC26A2:NM_000112:exon3:c.T1721C:p.I574T
5 149677851 2 ARSI A G exonic synonymous SNV ARSI:NM_001012301:exon2:c.T636C:p.Y212Y
5 150097883 1 DCTN4 G C exonic nonsynonymous SNV DCTN4:NM_001135644:exon11:c.C855G:p.F285L,DCTN4:NM_016221:exon11:c.C1026G:p.F342L,DCTN4:NM_001135643:exon12:c.C1047G:p.F349L RS11954652 LDL cholesterol:Mitral annular calcium
5 154268902 2 GEMIN5 C T exonic synonymous SNV GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A RS816739 Systolic blood pressure (SBP):Aortic valve calcium
5 154291409 2 GEMIN5 C T exonic nonsynonymous SNV GEMIN5:NM_001252156:exon15:c.G2042A:p.R681Q,GEMIN5:NM_015465:exon15:c.G2045A:p.R682Q RS1974777 HOMA-B:HDL cholesterol change with statins:Gene expression of C5orf4 in blood:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
5 154300940 2 GEMIN5 A C exonic synonymous SNV GEMIN5:NM_001252156:exon10:c.T1422G:p.T474T,GEMIN5:NM_015465:exon10:c.T1425G:p.T475T RS348739 HOMA-B:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels:Advanced age-related macular degeneration
5 154306972 2 GEMIN5 T C exonic synonymous SNV GEMIN5:NM_001252156:exon7:c.A1050G:p.L350L,GEMIN5:NM_015465:exon7:c.A1053G:p.L351L RS2258437 HOMA-B:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
5 156479424 2 HAVCR1 A C exonic synonymous SNV HAVCR1:NM_012206:exon3:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T,HAVCR1:NM_001308156:exon4:c.T621G:p.T207T
5 156479509 2 HAVCR1 A G exonic nonsynonymous SNV HAVCR1:NM_012206:exon3:c.T536C:p.L179P,HAVCR1:NM_001173393:exon4:c.T536C:p.L179P,HAVCR1:NM_001308156:exon4:c.T536C:p.L179P RS1553316 LDL cholesterol:Triglycerides change with statins:Triglycerides:LDL cholesterol:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy)
5 156482459 2 HAVCR1 G T exonic synonymous SNV HAVCR1:NM_012206:exon2:c.C132A:p.S44S,HAVCR1:NM_001173393:exon3:c.C132A:p.S44S,HAVCR1:NM_001308156:exon3:c.C132A:p.S44S
5 167850748 2 WWC1 A G exonic synonymous SNV WWC1:NM_001161661:exon11:c.A1485G:p.S495S,WWC1:NM_001161662:exon11:c.A1485G:p.S495S,WWC1:NM_015238:exon11:c.A1485G:p.S495S
5 167913510 1 RARS G A exonic nonsynonymous SNV RARS:NM_002887:exon1:c.G7A:p.V3I RS244903 Irritible bowel syndrome:Triglycerides:Differential exon level expression of RARS [probe 2839673] in peripheral blood mononuclear cells:Differential exon level expression of RARS [probe 2839673] in brain cortex:Partial epilepsy:Asthma:Carboplatin IC50 in B lymphoblastoid cell lines:Age at death with kuru exposure:Gene expression of FBLL1 in normal prepouch ileum
5 171533656 2 STK10 C T exonic synonymous SNV STK10:NM_005990:exon6:c.G756A:p.S252S
5 172196711 2 DUSP1 G T exonic synonymous SNV DUSP1:NM_004417:exon3:c.C600A:p.I200I RS2431663 Urinary albumin-to-creatinine ratio:Microalbuminuria
5 176025938 2 GPRIN1 T C exonic nonsynonymous SNV GPRIN1:NM_052899:exon2:c.A898G:p.M300V
5 176517461 2 FGFR4 T G exonic synonymous SNV FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_001291980:exon3:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R
5 176885178 2 DBN1 A G exonic nonsynonymous SNV DBN1:NM_004395:exon12:c.T1657C:p.S553P,DBN1:NM_080881:exon13:c.T1663C:p.S555P
5 176930135 2 DOK3 G A exonic nonsynonymous SNV DOK3:NM_001144876:exon5:c.C598T:p.R200C,DOK3:NM_001144875:exon6:c.C904T:p.R302C RS28376231 Salmonella-induced pyroptosis
5 176951276 2 FAM193B A G exonic nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P
5 178634619 2 ADAMTS2 C T exonic synonymous SNV ADAMTS2:NM_014244:exon4:c.G786A:p.A262A,ADAMTS2:NM_021599:exon4:c.G786A:p.A262A RS423552 PROP taste detection threshold
5 179290845 2 TBC1D9B T G exonic nonsynonymous SNV TBC1D9B:NM_015043:exon21:c.A3305C:p.K1102T,TBC1D9B:NM_198868:exon22:c.A3356C:p.K1119T RS30386 Gene expression of OSIL in blood cells in Celiac disease:Schizophrenia:Fasting insulin:Gene expression of SQSTM1 in CD4+ lymphocytes:Gene expression of SQSTM1///C5orf45 in blood:Years of education:Infant head circumference
5 180276402 2 ZFP62 C T exonic nonsynonymous SNV ZFP62:NM_001172638:exon2:c.G2093A:p.R698K,ZFP62:NM_152283:exon3:c.G1994A:p.R665K
5 180278393 2 ZFP62 C G exonic startloss ZFP62:NM_001172638:exon2:c.G102C:p.M34I,ZFP62:NM_152283:exon3:c.G3C:p.M1?
6 1313117 2 FOXQ1 A C exonic nonsynonymous SNV FOXQ1:NM_033260:exon1:c.A178C:p.T60P
6 1313121 2 FOXQ1 A C exonic nonsynonymous SNV FOXQ1:NM_033260:exon1:c.A182C:p.Q61P
6 2959513 1 SERPINB6 C T exonic synonymous SNV SERPINB6:NM_001271822:exon2:c.G96A:p.T32T,SERPINB6:NM_001271823:exon2:c.G111A:p.T37T,SERPINB6:NM_001271824:exon2:c.G54A:p.T18T,SERPINB6:NM_001271825:exon2:c.G54A:p.T18T,SERPINB6:NM_001297699:exon2:c.G54A:p.T18T,SERPINB6:NM_001297700:exon2:c.G54A:p.T18T,SERPINB6:NM_004568:exon2:c.G54A:p.T18T,SERPINB6:NM_001195291:exon3:c.G66A:p.T22T RS2236277 Triglycerides:HDL cholesterol change with statins:Autism:Gene expression of SERPINB6 in blood:Gene expression of NQO2 in blood:Gene expression of AL133351.34 in blood:Gene expression of NQO2 [probeset 203814_s_at] in sputum:Gene expression of SERPINB6 [probeset 1556950_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Years of education:Gene expression of SERPINB6 in normal prepouch ileum
6 3077141 2 RIPK1 T C exonic synonymous SNV RIPK1:NM_003804:exon2:c.T84C:p.F28F RS2272990 Advanced age-related macular degeneration (geographic atrophy):Obesity with early age of onset (age >2)
6 3154871 2 TUBB2A A C exonic synonymous SNV TUBB2A:NM_001069:exon4:c.T564G:p.S188S,TUBB2A:NM_001310315:exon4:c.T309G:p.S103S
6 3264487 2 PSMG4 T C exonic nonsynonymous SNV PSMG4:NM_001128592:exon3:c.T295C:p.W99R RS4959786 Gene expression of LOC389362 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of UFSP1 in peripheral blood monocytes:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio
6 3264502 2 PSMG4 G C exonic nonsynonymous SNV PSMG4:NM_001128592:exon3:c.G310C:p.G104R RS4959787 Gene expression of LOC389362 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of UFSP1 in peripheral blood monocytes:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio
6 3264527 2 PSMG4 T C exonic nonsynonymous SNV PSMG4:NM_001128592:exon3:c.T335C:p.L112P
6 3287118 2 SLC22A23 T C exonic synonymous SNV SLC22A23:NM_001286455:exon7:c.A678G:p.S226S,SLC22A23:NM_015482:exon7:c.A1521G:p.S507S,SLC22A23:NM_021945:exon8:c.A678G:p.S226S RS6910086 Irritible bowel syndrome:Urinary albumin-to-creatinine ratio:Tetrology of fallot:Parkinson's disease
6 3727811 2 PXDC1 C G exonic nonsynonymous SNV PXDC1:NM_183373:exon4:c.G552C:p.Q184H RS226959 LDL cholesterol:LDL cholesterol:Total cholesterol:Diabetic retinopathy in Type 2 diabetes mellitus
6 4031998 2 PRPF4B A G exonic nonsynonymous SNV PRPF4B:NM_003913:exon2:c.A247G:p.I83V RS9503893 Arthritis including non-Rheumatoid:LDL cholesterol:Colorword:LDL cholesterol:Total cholesterol:Waist hip ratio:Refractive error:Tetrology of fallot:Primary rhegmatogenous retinal detachment
6 5086070 2 PPP1R3G A G exonic synonymous SNV PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A
6 5260936 1 LYRM4 A C exonic nonsynonymous SNV LYRM4:NM_001164840:exon1:c.T31G:p.S11A,LYRM4:NM_001164841:exon1:c.T31G:p.S11A,LYRM4:NM_001318782:exon1:c.T31G:p.S11A,LYRM4:NM_001318783:exon1:c.T31G:p.S11A,LYRM4:NM_020408:exon1:c.T31G:p.S11A RS2224391 Differential splicing of C6orf149 [probeset 2939933] in lymphoblastoid cell lines:Gene expression of FARS2 [probe 2893130] in brain cortex:Differential exon level expression of FARS2 [probe 2893135] in brain cortex:HDL cholesterol:Microalbuminuria:Height:Bipolar disorder:Years of education:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 5431340 1 FARS2 A G exonic nonsynonymous SNV FARS2:NM_001318872:exon4:c.A839G:p.N280S,FARS2:NM_006567:exon4:c.A839G:p.N280S RS11243011 Triglycerides:Cystatin C in serum:Autism:Late onset Alzheimer's disease:Gene expression of FARS2 in blood:Bipolar disorder:College completion
6 7211818 2 RREB1 G A exonic nonsynonymous SNV RREB1:NM_001003698:exon8:c.G583A:p.G195R,RREB1:NM_001003699:exon8:c.G583A:p.G195R,RREB1:NM_001003700:exon8:c.G583A:p.G195R,RREB1:NM_001168344:exon8:c.G583A:p.G195R RS1334576 Gene expression of probe 228487_s_at in lymphoblastoid cell lines:Hip bone mineral density (BMD):Differential exon level expression of RREB1 [probe 2893615] in peripheral blood mononuclear cells:Total cholesterol:Height:Waist hip ratio:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Age at death with kuru exposure:College completion:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 7246998 1 RREB1 G A exonic nonsynonymous SNV RREB1:NM_001003698:exon11:c.G4150A:p.G1384R,RREB1:NM_001168344:exon11:c.G4150A:p.G1384R,RREB1:NM_001003699:exon12:c.G4315A:p.G1439R
6 7247248 2 RREB1 T C exonic nonsynonymous SNV RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P RS2256596 Childhood acute lymphoblastic leukemia:LDL cholesterol:Height:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Alzheimer's disease cases and controls
6 10085674 2
6 11190626 2 NEDD9 A G exonic synonymous SNV NEDD9:NM_001271033:exon4:c.T1029C:p.V343V,NEDD9:NM_006403:exon5:c.T1476C:p.V492V,NEDD9:NM_001142393:exon6:c.T1476C:p.V492V RS941982 Triglycerides
6 12122645 2 HIVEP1 A G exonic nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2617G:p.T873A
6 12123249 1 HIVEP1 A G exonic nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A3221G:p.N1074S RS2228220 Cystatin C in serum:Lp-PLA2 mass:LDL cholesterol:Neuroblastoma (brain cancer):Venous thrombosis
6 12294258 2 EDN1 A G exonic synonymous SNV EDN1:NM_001168319:exon3:c.A315G:p.E105E,EDN1:NM_001955:exon3:c.A318G:p.E106E RS5369 LDL cholesterol change with statins:Waist hip ratio
6 12296255 1 EDN1 G T exonic nonsynonymous SNV EDN1:NM_001168319:exon5:c.G591T:p.K197N,EDN1:NM_001955:exon5:c.G594T:p.K198N RS5370 Total cholesterol change with statins:LDL cholesterol change with statins:Chronic kidney disease:Intracranial aneurysm:Systolic blood pressure (SBP):plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1
6 16327615 2 ATXN1 A G exonic synonymous SNV ATXN1:NM_001128164:exon7:c.T927C:p.A309A,ATXN1:NM_000332:exon8:c.T927C:p.A309A
6 17292048 1 RBM24 G A exonic nonsynonymous SNV RBM24:NM_153020:exon3:c.G274A:p.V92I,RBM24:NM_001143941:exon4:c.G235A:p.V79I,RBM24:NM_001143942:exon4:c.G409A:p.V137I
6 17633061 2 NUP153 C T exonic nonsynonymous SNV NUP153:NM_001278210:exon16:c.G2353A:p.A785T,NUP153:NM_005124:exon17:c.G2479A:p.A827T,NUP153:NM_001278209:exon18:c.G2572A:p.A858T RS2274136 Triglycerides:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with statins:Fasting serum LDL cholesterol (mg/dL) in children:Fasting serum Total cholesterol (mg/dL) in children:Gene expression of FAM8A1 (ENSG00000137414) in dendritic cells treated with Mycobacterium tuberculosis
6 17665479 1 NUP153 G C exonic nonsynonymous SNV NUP153:NM_001278209:exon9:c.C1206G:p.N402K,NUP153:NM_001278210:exon9:c.C1206G:p.N402K,NUP153:NM_005124:exon9:c.C1206G:p.N402K RS6906499 Lp-PLA2 activity:Height:Mitral annular calcium
6 17688798 1 NUP153 G A exonic synonymous SNV NUP153:NM_001278209:exon2:c.C163T:p.L55L,NUP153:NM_001278210:exon2:c.C163T:p.L55L,NUP153:NM_005124:exon2:c.C163T:p.L55L
6 17764530 1 KIF13A C T exonic synonymous SNV KIF13A:NM_001105567:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105568:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105566:exon38:c.G5124A:p.E1708E,KIF13A:NM_022113:exon39:c.G5229A:p.E1743E
6 17764755 1 KIF13A T C exonic synonymous SNV KIF13A:NM_001105567:exon37:c.A4860G:p.P1620P,KIF13A:NM_001105568:exon37:c.A4860G:p.P1620P,KIF13A:NM_001105566:exon38:c.A4899G:p.P1633P,KIF13A:NM_022113:exon39:c.A5004G:p.P1668P RS2296197 2 hour glucose:Gene expression of KIF13A [transcript NM_022113, probe A_23_P214111] in liver:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Aortic valve calcium
6 17781450 1 KIF13A G A exonic synonymous SNV KIF13A:NM_001105567:exon29:c.C3588T:p.S1196S,KIF13A:NM_001105568:exon29:c.C3588T:p.S1196S,KIF13A:NM_001105566:exon30:c.C3627T:p.S1209S,KIF13A:NM_022113:exon30:c.C3627T:p.S1209S RS942376 Advanced age-related macular degeneration
6 18139214 2 TPMT G A exonic synonymous SNV TPMT:NM_000367:exon6:c.C474T:p.I158I,TPMT:NM_001346818:exon6:c.C474T:p.I158I,TPMT:NM_001346817:exon7:c.C474T:p.I158I RS2842934 Barnes Akathisia Rating Scale:HDL cholesterol:Total cholesterol:Height:Bipolar disorder in alcoholics:Comorbid depressive syndrome and alcohol dependence
6 18215303 2 KDM1B T C exonic synonymous SNV KDM1B:NM_153042:exon16:c.T1479C:p.D493D RS214585 Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence
6 24418348 1 MRS2 G A exonic synonymous SNV MRS2:NM_001286266:exon6:c.G723A:p.E241E,MRS2:NM_001286265:exon8:c.G873A:p.E291E,MRS2:NM_020662:exon8:c.G873A:p.E291E,MRS2:NM_001286264:exon9:c.G882A:p.E294E RS2793422 Differential exon level expression of MRS2L [probe 2898472] in brain cortex:HOMA-IR:Fasting insulin:Partial epilepsy:Gene expression of MRS2 in normal prepouch ileum:Refractive error
6 24653273 1 TDP2 G C exonic nonsynonymous SNV TDP2:NM_016614:exon6:c.C745G:p.Q249E RS2294689 Irritible bowel syndrome:Neuroticism
6 24653376 2 TDP2 G A exonic synonymous SNV TDP2:NM_016614:exon6:c.C642T:p.N214N RS1129644 Fasting blood glucose:Fasting insulin:HOMA-IR:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium:Advanced age-related macular degeneration
6 25605091 2 CARMIL1 G A exonic nonsynonymous SNV CARMIL1:NM_001173977:exon34:c.G3604A:p.G1202S,CARMIL1:NM_017640:exon34:c.G3604A:p.G1202S RS1012899 Irritible bowel syndrome:Fasting blood glucose:Gene expression of BTN3A2 in peripheral blood monocytes:Gene expression of LRRC16 in blood:Age at death with kuru exposure:Adiponectin levels:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early onset hypertension)
6 26285560 2 HIST1H4H A G exonic synonymous SNV HIST1H4H:NM_003543:exon1:c.T168C:p.R56R RS2393592 Type 1 diabetes, combined control dataset:Major depressive disorder:2 hour glucose:HDL cholesterol:Total cholesterol change with statins:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Cerebellum:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Temporal cortex:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Caudal pons:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Temporal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Frontal cortex:Gene expression of HIST1H4H in peripheral blood monocytes:Gene expression of SIPA1L2 in peripheral blood monocytes:Gene expression of HIST1H2BD in peripheral blood monocytes:Gene expression of HIST1H4E in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Height:Bipolar disorder:Gene expression of HIST1H2BF (probeID ILMN_1779373) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in Alzheimer's disease cases and controls
6 26285683 2 HIST1H4H T C exonic synonymous SNV HIST1H4H:NM_003543:exon1:c.A45G:p.G15G RS2393593 2 hour glucose:HDL cholesterol:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Temporal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Temporal cortex:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Cerebellum:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Caudal pons:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Frontal cortex:Methylation levels at chr15:38673339-38673389 [hg18 coord, probe cg21824213] in Cerebellum:Methylation levels at chr11:65872173-65872223 [hg18 coord, probe cg10839997] in Frontal cortex:Total cholesterol:HDL cholesterol:Height:PROP taste detection threshold:Gene expression of HIST1H4H in normal prepouch ileum:Gene expression of HIST1H2BF (probeID ILMN_1779373) in cerebellum in Alzheimer's disease cases and controls:Years of education:Gene expression of HIST1H2BF (probeID ILMN_1779373) in temporal cortex in Alzheimer's disease cases and controls
6 26545632 1 HMGN4 G A exonic synonymous SNV HMGN4:NM_006353:exon2:c.G198A:p.G66G RS4871 Rheumatoid arthritis:Height:Years of education:College completion:Obesity with early age of onset (age >2)
6 26597333 1 ABT1 A G exonic synonymous SNV ABT1:NM_013375:exon1:c.A123G:p.K41K
6 26598188 1 ABT1 A G exonic synonymous SNV ABT1:NM_013375:exon2:c.A288G:p.G96G RS3800303 Rheumatoid arthritis:Height:Years of education:Obesity with early age of onset (age >2):Birth weight:College completion
6 28120898 1 ZKSCAN8 G A exonic synonymous SNV ZKSCAN8:NM_001278122:exon6:c.G279A:p.Q93Q,ZKSCAN8:NM_006298:exon6:c.G840A:p.Q280Q,ZKSCAN8:NM_001278119:exon7:c.G840A:p.Q280Q,ZKSCAN8:NM_001278121:exon7:c.G279A:p.Q93Q RS17774663 Gene expression of LOC222701 in CEU-CHB-JPT-YRI lymphoblastoid cell lines
6 28219661 1 ZKSCAN4 G A exonic nonsynonymous SNV ZKSCAN4:NM_019110:exon1:c.C98T:p.S33F
6 28239915 1 ZSCAN26 G A exonic unknown UNKNOWN RS11965538 Serum creatinine:HDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Gene expression of ZSCAN23 in normal prepouch ileum
6 28297313 1 ZSCAN31 T A exonic nonsynonymous SNV ZSCAN31:NM_001135216:exon2:c.A148T:p.T50S,ZSCAN31:NM_001243241:exon2:c.A148T:p.T50S,ZSCAN31:NM_030899:exon2:c.A148T:p.T50S,ZSCAN31:NM_001135215:exon6:c.A148T:p.T50S,ZSCAN31:NM_145909:exon6:c.A148T:p.T50S RS853678 Gene expression of BTN3A2 [probe 212613_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 [probe 204820_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A3 [probe 204820_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 [probe 209846_s_at] in lymphoblastoid cell lines:Gene expression of BTN3A2 in lymphoblastoid cell lines:Gene expression of BTN3A3 in lymphoblastoid cell lines:Serum creatinine:HDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Infant head circumference
6 29693011 2 HLA-F C T exonic nonsynonymous SNV HLA-F:NM_001098479:exon4:c.C814T:p.P272S,HLA-F:NM_018950:exon4:c.C814T:p.P272S RS1736924 Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Height
6 29797406 2 HLA-G G A exonic synonymous SNV HLA-G:NM_002127:exon5:c.G831A:p.E277E
6 29797436 2 HLA-G T C exonic synonymous SNV HLA-G:NM_002127:exon5:c.T861C:p.H287H
6 29910378 1 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon1:c.C48T:p.A16A,HLA-A:NM_002116:exon1:c.C48T:p.A16A
6 29910604 1 HLA-A C A exonic synonymous SNV HLA-A:NM_001242758:exon2:c.C144A:p.A48A,HLA-A:NM_002116:exon2:c.C144A:p.A48A
6 29911207 1 HLA-A G A exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.G506A:p.R169H,HLA-A:NM_002116:exon3:c.G506A:p.R169H
6 29911256 2 HLA-A T G exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.T555G:p.D185E,HLA-A:NM_002116:exon3:c.T555G:p.D185E
6 29912108 1 HLA-A G C exonic nonsynonymous SNV HLA-A:NM_001242758:exon4:c.G829C:p.E277Q,HLA-A:NM_002116:exon4:c.G829C:p.E277Q
6 29912147 1 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon4:c.C868T:p.L290L,HLA-A:NM_002116:exon4:c.C868T:p.L290L
6 29912333 1 HLA-A C T exonic nonsynonymous SNV HLA-A:NM_001242758:exon5:c.C952T:p.L318F,HLA-A:NM_002116:exon5:c.C952T:p.L318F
6 29913042 2 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon7:c.C1077T:p.S359S,HLA-A:NM_002116:exon7:c.C1077T:p.S359S
6 30122154 2 TRIM10 T C exonic synonymous SNV TRIM10:NM_006778:exon7:c.A1038G:p.Q346Q,TRIM10:NM_052828:exon7:c.A1038G:p.Q346Q RS3094134 LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Height:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 30313268 1 RPP21;TRIM39-RPP21 G A exonic synonymous SNV RPP21:NM_001199120:exon3:c.G183A:p.R61R,RPP21:NM_001199121:exon3:c.G159A:p.R53R,RPP21:NM_024839:exon3:c.G159A:p.R53R,TRIM39-RPP21:NM_001199119:exon8:c.G1206A:p.R402R RS11967 Salmonella-induced pyroptosis:Infant head circumference
6 30521137 2 GNL1 G A exonic synonymous SNV GNL1:NM_005275:exon6:c.C798T:p.D266D RS2074505 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP)
6 30530245 2 PRR3 T C exonic synonymous SNV PRR3:NM_001077497:exon3:c.T477C:p.H159H,PRR3:NM_025263:exon4:c.T540C:p.H180H RS2074504 HDL cholesterol:Tardive dyskinesia:Abnormal Involuntary Movement Scale:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure (DBP):Mean corpuscular hemoglobin concentration (MCHC)
6 30711805 2 IER3 C G exonic nonsynonymous SNV IER3:NM_003897:exon2:c.G379C:p.A127P RS3094124 LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:Parkinson's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30882203 2 VARS2 T C exonic synonymous SNV VARS2:NM_001167734:exon1:c.T15C:p.A5A
6 30888161 2 VARS2 T C exonic nonsynonymous SNV VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R RS2249464 Total cholesterol:LDL cholesterol:Rheumatoid arthritis:HDL cholesterol:LDL cholesterol:Triglycerides:Total cholesterol:Height:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Gene expression of VARS2 in normal prepouch ileum:Coronary artery disease (CAD)
6 30893728 2 VARS2 C T exonic synonymous SNV VARS2:NM_001167733:exon28:c.C2613T:p.D871D,VARS2:NM_001167734:exon29:c.C3123T:p.D1041D,VARS2:NM_020442:exon29:c.C3033T:p.D1011D RS1043483 Gene expression of VARS2 [probe 226200_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31084964 2 CDSN T C exonic nonsynonymous SNV CDSN:NM_001264:exon2:c.A428G:p.N143S RS3130984 Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 212999_x_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:Rheumatoid arthritis:Body mass index (BMI):HIV-1 control
6 31085200 2 CDSN A G exonic synonymous SNV CDSN:NM_001264:exon2:c.T192C:p.G64G RS3132553 Rheumatoid arthritis:Body mass index (BMI):HIV-1 control
6 31111180 2 CCHCR1 T C exonic synonymous SNV CCHCR1:NM_001105563:exon16:c.A2070G:p.L690L,CCHCR1:NM_001105564:exon16:c.A2178G:p.L726L,CCHCR1:NM_019052:exon16:c.A1911G:p.L637L RS130073 Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL cholesterol change with statins:Serum creatinine:Rheumatoid arthritis:Total cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31113030 2 CCHCR1 A G exonic synonymous SNV CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L
6 31113052 2 CCHCR1 G A exonic synonymous SNV CCHCR1:NM_001105563:exon13:c.C1659T:p.D553D,CCHCR1:NM_001105564:exon13:c.C1767T:p.D589D,CCHCR1:NM_019052:exon13:c.C1500T:p.D500D RS3094225 Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:Monocyte count:Rheumatoid arthritis:Gene expression of HLA-C in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:Gene expression of HLA-DQB1 in peripheral blood monocytes:Gene expression of HCG27 in peripheral blood monocytes:Total cholesterol:Triglycerides:LDL cholesterol:Height:Propylene glycol concentration:Nevirapine-induced rash in HIV-1 patients:Advanced age-related macular degeneration:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in non-Alzheimer's disease samples:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease:Gene expression of TCF19 (probeID ILMN_2317618) in cerebellum in Alzheimer's disease cases and controls
6 31118565 2 CCHCR1 C G exonic synonymous SNV CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V RS130078 Total cholesterol:Triglycerides:Height:Body mass index (BMI):Grave's disease:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31129616 2 TCF19 A G exonic nonsynonymous SNV TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V,TCF19:NM_001318908:exon4:c.A631G:p.M211V RS2073721 Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:Total cholesterol:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Gene expression of CCHCR1 in normal prepouch ileum:Parkinson's disease
6 31129642 2 TCF19 A C exonic synonymous SNV TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P,TCF19:NM_001318908:exon4:c.A657C:p.P219P RS2073722 Gene expression of HLA-C [probe 208812_x_at] in lymphoblastoid cell lines:Gene expression of HLA-C [probe 214459_x_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of HCG27 [probe 1559050_at] in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Gene expression of HCG27 in lymphoblastoid cell lines:LDL cholesterol:Serum creatinine:Rheumatoid arthritis:Triglycerides:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Propylene glycol concentration:Aortic valve calcium:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
6 31237786 2 HLA-C A T exonic synonymous SNV HLA-C:NM_001243042:exon5:c.T972A:p.L324L,HLA-C:NM_002117:exon5:c.T972A:p.L324L
6 31237802 2 HLA-C A G exonic nonsynonymous SNV HLA-C:NM_001243042:exon5:c.T956C:p.V319A,HLA-C:NM_002117:exon5:c.T956C:p.V319A RS1050147 Sarcoidosis
6 31237833 2 HLA-C T C exonic nonsynonymous SNV HLA-C:NM_001243042:exon5:c.A925G:p.M309V,HLA-C:NM_002117:exon5:c.A925G:p.M309V
6 31238135 2 HLA-C G A exonic synonymous SNV HLA-C:NM_001243042:exon4:c.C747T:p.T249T,HLA-C:NM_002117:exon4:c.C747T:p.T249T RS1050317 Sarcoidosis
6 31238138 2 HLA-C C T exonic synonymous SNV HLA-C:NM_001243042:exon4:c.G744A:p.Q248Q,HLA-C:NM_002117:exon4:c.G744A:p.Q248Q RS1050320 Sarcoidosis
6 31238234 1 HLA-C G A exonic synonymous SNV HLA-C:NM_001243042:exon4:c.C648T:p.H216H,HLA-C:NM_002117:exon4:c.C648T:p.H216H RS1050344 Sarcoidosis
6 31238957 2 HLA-C A C exonic nonsynonymous SNV HLA-C:NM_001243042:exon3:c.T512G:p.L171W,HLA-C:NM_002117:exon3:c.T512G:p.L171W
6 31238992 1 HLA-C G C exonic synonymous SNV HLA-C:NM_001243042:exon3:c.C477G:p.A159A,HLA-C:NM_002117:exon3:c.C477G:p.A159A
6 31239006 1 HLA-C G T exonic nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C463A:p.R155S,HLA-C:NM_002117:exon3:c.C463A:p.R155S
6 31239821 2 HLA-C G T exonic nonsynonymous SNV HLA-C:NM_001243042:exon1:c.C28A:p.L10I,HLA-C:NM_002117:exon1:c.C28A:p.L10I
6 31239827 2 HLA-C C T exonic nonsynonymous SNV HLA-C:NM_001243042:exon1:c.G22A:p.A8T,HLA-C:NM_002117:exon1:c.G22A:p.A8T RS2308525 Sarcoidosis
6 31323215 1 HLA-B T C exonic synonymous SNV HLA-B:NM_005514:exon4:c.A774G:p.R258R
6 31323296 2 HLA-B A G exonic synonymous SNV HLA-B:NM_005514:exon4:c.T693C:p.G231G
6 31324104 1 HLA-B G A exonic synonymous SNV HLA-B:NM_005514:exon3:c.C459T:p.D153D
6 31324151 2 HLA-B C T exonic nonsynonymous SNV HLA-B:NM_005514:exon3:c.G412A:p.D138N RS71543422 Myasthenia gravis:Myasthenia gravis
6 31324931 2 HLA-B A C exonic nonsynonymous SNV HLA-B:NM_005514:exon1:c.T5G:p.L2R
6 31371430 2 MICA T C exonic synonymous SNV MICA:NM_000247:exon1:c.T21C:p.F7F,MICA:NM_001177519:exon1:c.T21C:p.F7F RS2844519 Gene expression of HLA-B in lymphoblastoid cell lines:Total cholesterol:Height:Body mass index (BMI):IgE in plasma
6 31379109 1 MICA G A exonic nonsynonymous SNV MICA:NM_000247:exon3:c.G586A:p.E196K,MICA:NM_001177519:exon3:c.G586A:p.E196K,MICA:NM_001289152:exon3:c.G295A:p.E99K,MICA:NM_001289153:exon3:c.G295A:p.E99K,MICA:NM_001289154:exon3:c.G172A:p.E58K RS1051794 Gene expression of LOC282956 in CHB lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Rheumatoid arthritis:HIV-1 seropositive nonprogression:Schizophrenia:Rheumatoid arthritis:HIV-1 disease progression:HIV-1 control (viral load at set point):LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Asthma:Height:Body mass index (BMI):HIV-1 control (viral load):Gene expression of LST1///NCR3 in blood:Gene expression of [probe 7150630 centered at chr6:31344573] in blood:Gene expression of MICB in blood:Gene expression of AL645933.8 in blood:Gene expression of HLA-B in blood:Gene expression of HCG27 in blood:Gene expression of XRCC6 in blood:Gene expression of TMEM154 in blood
6 31382911 2 MICA A G exonic nonsynonymous SNV MICA:NM_000247:exon7:c.A1147G:p.T383A RS1882 Total cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Height
6 31506624 2 DDX39B T C exonic synonymous SNV DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V RS1129640 Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Gene expression of AIF1 (ENSG00000204472) in dendritic cells:Advanced age-related macular degeneration:Cervical cancer:Advanced age-related macular degeneration (geographic atrophy)
6 31525912 2 NFKBIL1 C T exonic nonsynonymous SNV NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C RS3130062 Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Infant head circumference:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31594628 2 PRRC2A T A exonic synonymous SNV PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G RS3130071 LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration:Gene expression of HLA-DRB5 in normal prepouch ileum
6 31595882 2 PRRC2A C A exonic nonsynonymous SNV PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K RS1046080 Gene expression of HLA-DQA1 [probe 203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Gene expression of HCG27 in peripheral blood monocytes:Gene expression of MICA in peripheral blood monocytes:Gene expression of HSPA1L in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-F in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:LDL cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Infant head circumference:Lupus anticoagulant:Advanced age-related macular degeneration
6 31601344 2 PRRC2A T C exonic nonsynonymous SNV PRRC2A:NM_004638:exon17:c.T4508C:p.L1503P,PRRC2A:NM_080686:exon17:c.T4508C:p.L1503P RS2272593 Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:LDL cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
6 31602967 1 PRRC2A G A exonic nonsynonymous SNV PRRC2A:NM_004638:exon22:c.G5219A:p.R1740H,PRRC2A:NM_080686:exon22:c.G5219A:p.R1740H RS1046089 Type 1 diabetes:Gene expression of HLA-DQA1 [probe 203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133661 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133811 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of LOC730415 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of LOC731718 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of RNASE2 [probe 221491_x_at] in lymphoblastoid cell lines:Gene expression of ZNF749 [probe 221491_x_at] in lymphoblastoid cell lines:Alzheimer's disease:Extreme obesity with early age of onset:Longstanding arthritis:Arthritis including non-Rheumatoid:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Schizophrenia:Differential exon level expression of CSNK2B [probe 2902572] in brain cortex:Gene expression of BAT3 [probe 2949148] in brain cortex:Fasting insulin:HOMA-IR:Childhood acute lymphoblastic leukemia:HDL cholesterol:Serum creatinine:Lp-PLA2 activity:Methylation levels at chr6:31806205-31806255 [hg18 coord, probe cg18055007] in Cerebellum:Gene expression of HCG27 in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HSPA1B in peripheral blood monocytes:Gene expression of HLA-DRB4 in peripheral blood monocytes:Gene expression of CSNK2B in peripheral blood monocytes:Alopecia areata:Primary biliary cirrhosis:Primary biliary cirrhosis (antimitochondrial-antibody positive only):HDL cholesterol:Gene expression of LY6G5C in CD4+ lymphocytes:Idiopathic membranous nephropathy:Antibody titer to hepatitis B vaccination:Gene expression of LST1 in blood:Gene expression of AL645933.8 in blood:Gene expression of [probe 580452 centered at chr6:31558910] in blood:Gene expression of LY6G5C in blood:Gene expression of HSPA1B in blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of AIF1 in blood:Rheumatoid arthritis:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Schizophrenia:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases and controls:Primary ovarian insufficient (menopause <40):Age at natural menopause:Tetrology of fallot:Coronary artery disease (CAD):Age at menopause:Parkinson's disease:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in non-Alzheimer's disease samples:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases:Menopause with early age of onset (<45 years)
6 31604010 1 PRRC2A C G exonic synonymous SNV PRRC2A:NM_004638:exon26:c.C5649G:p.P1883P,PRRC2A:NM_080686:exon26:c.C5649G:p.P1883P
6 31604044 2 PRRC2A T G exonic nonsynonymous SNV PRRC2A:NM_004638:exon26:c.T5683G:p.L1895V,PRRC2A:NM_080686:exon26:c.T5683G:p.L1895V RS3132453 Type 1 diabetes:Rheumatoid arthritis:Height:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Spine bone mineral density (BMD) (females):Hip bone mineral density (BMD) (females):Irritible bowel syndrome:LDL cholesterol:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Low trauma fracture:Schizophrenia:Rheumatoid arthritis:Bicuspid aortic valve:Total cholesterol:HDL cholesterol:Rheumatoid arthritis:Multiple sclerosis:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Parkinson's disease (PD):Gene expression of [probe 1440603 centered at chr6:31556036] in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of LST1 in blood:Gene expression of MICB in blood:Comorbid depressive syndrome and alcohol dependence:Parkinson's disease:Infant head circumference
6 31610686 1 BAG6 A G exonic nonsynonymous SNV BAG6:NM_001098534:exon14:c.T1855C:p.S619P,BAG6:NM_001199698:exon14:c.T1855C:p.S619P,BAG6:NM_004639:exon14:c.T1873C:p.S625P,BAG6:NM_080702:exon14:c.T1855C:p.S619P,BAG6:NM_080703:exon14:c.T1855C:p.S619P RS1052486 Type 1 diabetes:Gene expression of AIF1 [probe 215051_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 215666_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of AIF1 [probe 209901_x_at] in lymphoblastoid cell lines:Gene expression of AIF1 [probe 213095_x_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Gene expression of BAT3 [probe 2949148] in brain cortex:Differential exon level expression of BAT2 [probe 2902464] in brain cortex:Differential exon level expression of BAT3 [probe 2949188] in brain cortex:Gene expression of BAT5 [probe 2949256] in brain cortex:Differential exon level expression of BAT3 [probe 2949155] in brain cortex:Differential exon level expression of BAT3 [probe 2949162] in brain cortex:Differential exon level expression of BAT3 [probe 2949165] in brain cortex:Differential exon level expression of BAT3 [probe 2949167] in brain cortex:Differential exon level expression of BAT3 [probe 2949160] in brain cortex:Differential exon level expression of BAT3 [probe 2949163] in brain cortex:Differential exon level expression of BAT3 [probe 2949190] in brain cortex:Differential exon level expression of BAT3 [probe 2949158] in brain cortex:Fasting insulin:HDL cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:Gene expression of LY6G5C in CD4+ lymphocytes:Height:Body mass index (BMI):Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of LST1 in blood:Gene expression of BAT2 in blood:Gene expression of LST1///NCR3 in blood:Gene expression of HSPA1B in blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of LY6G5C in blood:Gene expression of AIF1 in blood:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in non-Alzheimer's disease samples:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases:Tetrology of fallot:Gene expression of SNORA38 in normal prepouch ileum:Gene expression of CSNK2B (ENSG00000204435) in dendritic cells treated with Mycobacterium tuberculosis:Coronary artery disease (CAD):Infant head circumference:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus
6 31627449 1 C6orf47 C G exonic nonsynonymous SNV C6orf47:NM_021184:exon1:c.G276C:p.K92N RS2242655 Type 2 diabetes:Type 1 diabetes, combined control dataset:Irritible bowel syndrome:Triglycerides:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Gene expression of HLA-DQB1 in peripheral blood monocytes:Gene expression of MSH5 in peripheral blood monocytes:Behçet's disease:Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 31627523 2 C6orf47 C T exonic nonsynonymous SNV C6orf47:NM_021184:exon1:c.G202A:p.G68R RS3130617 Type 1 diabetes:Rheumatoid arthritis:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Irritible bowel syndrome:Longstanding arthritis:Arthritis including non-Rheumatoid:Rheumatoid arthritis:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Primary biliary cirrhosis (antimitochondrial-antibody positive only):Primary biliary cirrhosis:Triglycerides:Total cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Rheumatoid arthritis (ACPA-positive):Gene expression of BAT2 in blood:Gene expression of [probe 6280471 centered at chr6:31885634] in blood:Gene expression of BAT3 in blood:Gene expression of TNF in blood:Gene expression of LST1///NCR3 in blood:Gene expression of DDAH2 in blood:Gene expression of LST1 in blood:Gene expression of ATP6V1G2///BAT1 in blood:Gene expression of [probe 580452 centered at chr6:31558910] in blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of [probe 1440603 centered at chr6:31556036] in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Infant head circumference:Follicular lymphoma (cancer):Paternal transmission distortion
6 31630241 1 GPANK1 C T exonic synonymous SNV GPANK1:NM_033177:exon3:c.G873A:p.R291R,GPANK1:NM_001199237:exon4:c.G873A:p.R291R,GPANK1:NM_001199238:exon4:c.G873A:p.R291R,GPANK1:NM_001199239:exon4:c.G873A:p.R291R,GPANK1:NM_001199240:exon4:c.G873A:p.R291R RS7992 Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Triglycerides:LDL cholesterol:Serum creatinine:Gene expression of LY6G5C in Cerebellum:Triglycerides:Total cholesterol:Gene expression of LY6G5C (probeID ILMN_1763467) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Gene expression of LY6G5B in normal prepouch ileum:Gene expression of LY6G5C (probeID ILMN_1763467) in temporal cortex in Alzheimer's disease cases and controls
6 31635710 1 CSNK2B T C exonic synonymous SNV CSNK2B:NM_001282385:exon3:c.T138C:p.Y46Y,CSNK2B:NM_001320:exon3:c.T138C:p.Y46Y RS14365 LDL cholesterol:Total cholesterol
6 31657413 2 ABHD16A T C exonic synonymous SNV ABHD16A:NM_001177515:exon10:c.A927G:p.L309L,ABHD16A:NM_021160:exon12:c.A1026G:p.L342L RS1475865 Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Triglycerides:Height:Urinary albumin-to-creatinine ratio
6 31729359 1 MSH5 A G exonic synonymous SNV MSH5:NM_002441:exon22:c.A2148G:p.Q716Q,MSH5:NM_025259:exon22:c.A2202G:p.Q734Q,MSH5:NM_172165:exon22:c.A2151G:p.Q717Q,MSH5:NM_172166:exon22:c.A2148G:p.Q716Q RS707938 HDL cholesterol:HDL cholesterol change with statins:Serum creatinine:Rheumatoid arthritis:Methylation levels at chr6:31806205-31806255 [hg18 coord, probe cg18055007] in Cerebellum:HDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Schizophrenia:Gene expression of DDAH2 (ENSG00000213722) in dendritic cells treated with Mycobacterium tuberculosis:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of HSPA1A (ENSG00000204389) in dendritic cells:Gene expression of C6orf26 in normal prepouch ileum:Schizophrenia
6 31731881 2 SAPCD1 C T exonic nonsynonymous SNV SAPCD1:NM_001039651:exon3:c.C296T:p.P99L RS6905572 HDL cholesterol:Rheumatoid arthritis:Height:Systolic blood pressure (SBP):Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31748820 1 VARS G A exonic synonymous SNV VARS:NM_006295:exon22:c.C2625T:p.D875D RS707926 Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol:Triglycerides:Total cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 31762843 1 VARS G C exonic nonsynonymous SNV VARS:NM_006295:exon2:c.C152G:p.P51R RS2607015 HDL cholesterol:Triglycerides change with statins:Serum creatinine:Chronic kidney disease:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:Total cholesterol:Triglycerides:Height:Waist hip ratio:Body mass index (BMI):Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Diabetic retinopathy in Type 2 diabetes mellitus
6 31762844 1 VARS G T exonic nonsynonymous SNV VARS:NM_006295:exon2:c.C151A:p.P51T
6 31785228 2 HSPA1A G C exonic synonymous SNV HSPA1A:NM_005345:exon1:c.G1695C:p.A565A
6 31797587 2 HSPA1B C G exonic synonymous SNV HSPA1B:NM_005346:exon1:c.C1860G:p.G620G RS539689 Sarcoidosis
6 31864547 1 EHMT2 G T exonic nonsynonymous SNV EHMT2:NM_001289413:exon2:c.C335A:p.T112N,EHMT2:NM_006709:exon3:c.C164A:p.T55N,EHMT2:NM_025256:exon3:c.C164A:p.T55N RS7887 Fasting insulin:HOMA-IR:Triglycerides change with statins:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Height:Waist hip ratio:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 31914935 2 CFB A G exonic synonymous SNV CFB:NM_001710:exon3:c.A450G:p.R150R RS1048709 Total cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Type 2 diabetes:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HLA-DQB1 in normal prepouch ileum:Gene expression of HLA-DRB5 in normal prepouch ileum:Parkinson's disease:Aortic valve calcium:Infant head circumference:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:College completion:Adiponectin levels:Coronary artery disease (CAD)
6 31929014 2 SKIV2L A C exonic nonsynonymous SNV SKIV2L:NM_006929:exon8:c.A640C:p.M214L RS437179 Bipolar disorder:Rheumatoid arthritis:Gene expression of HLA-DRB4 [probe 209728_at] in lymphoblastoid cell lines:Height:Triglycerides:LDL cholesterol:Differential exon level expression of SKIV2L [probe 2902895] in peripheral blood mononuclear cells:Differential exon level expression of SKIV2L [probe 2902895] in brain cortex:Rheumatoid arthritis:Alcohol dependence:Alcohol dependence (early age of onset):Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Alopecia areata:Multiple sclerosis:Triglycerides:LDL cholesterol:Total cholesterol:Nonalcoholic fatty liver disease (Aspartate aminotransferase (AST)):Height:Waist hip ratio:Body mass index (BMI):Idiopathic membranous nephropathy:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of RNF5///AGER in blood:Gene expression of DDAH2 in blood:Gene expression of LSM2 in blood:Gene expression of SKIV2L///DOM3Z in blood:Gene expression of TMEM154 in blood:Gene expression of XRCC6 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Sarcoidosis:Tetrology of fallot:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Progressive Supranuclear Palsy cases:Advanced age-related macular degeneration:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:Coronary artery disease (CAD):Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in non-Alzheimer's disease samples:Parkinson's disease:Infant head circumference
6 31936668 2 SKIV2L T C exonic synonymous SNV SKIV2L:NM_006929:exon26:c.T3201C:p.Y1067Y RS410851 Gene expression of HLA-DRB4 [probe 209728_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 215666_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211656_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA2 [probe 212671_s_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 in lymphoblastoid cell lines:Gene expression of HLA-DQA1 in lymphoblastoid cell lines:Gene expression of HLA-DQA2 in lymphoblastoid cell lines:Triglycerides:HOMA-IR:Fasting insulin:Alcohol dependence (early age of onset):Alcohol dependence:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Frontal cortex:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:LDL cholesterol:Triglycerides:Total cholesterol:Height:Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C4A (probeID ILMN_2179533) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in Alzheimer's disease cases:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of CYP21A2 (probeID ILMN_1773082) in cerebellum in non-Alzheimer's disease samples:Parkinson's disease:Infant head circumference:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration:Gene expression of CYP21A2 (probeID ILMN_1773082) in temporal cortex in Alzheimer's disease cases:Gene expression of MICA in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Sarcoidosis
6 31948448 1 STK19 A G exonic nonsynonymous SNV STK19:NM_004197:exon7:c.A919G:p.S307G,STK19:NM_032454:exon7:c.A931G:p.S311G
6 32122386 2 PPT2 C G exonic nonsynonymous SNV PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W
6 33163451 2 RXRB G A exonic synonymous SNV RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F RS6531 Type 1 diabetes, gender differentiated:Gene expression of HLA-DPB2 [probe 239975_at] in lymphoblastoid cell lines:LDL cholesterol:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene expression of HSD17B8 in peripheral blood monocytes:Gene expression of HLA-DPA1 in peripheral blood monocytes:Gene expression of DAXX in blood:Gene expression of HSD17B8 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of PHF1///CUTA in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in non-Alzheimer's disease samples:Gene expression of RXRB in normal prepouch ileum:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Progressive Supranuclear Palsy cases
6 33382288 2 PHF1 G A exonic nonsynonymous SNV PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K RS3116713 Alzheimer's disease:Fasting insulin:HOMA-IR:Body mass index (BMI):Gene expression of TAPBP in blood:Gene expression of HSD17B8 in blood:Gene expression of ITPR3 in blood:Systolic blood pressure (SBP):Imprinting effects on cleft lip without cleft palate
6 33422976 2 ZBTB9 T G exonic synonymous SNV ZBTB9:NM_152735:exon2:c.T99G:p.S33S RS3119025 Fasting insulin:HOMA-IR:Body mass index (BMI):Systolic blood pressure (SBP):Salmonella-induced pyroptosis:College completion
6 33636907 1 ITPR3 C T exonic synonymous SNV ITPR3:NM_002224:exon18:c.C2163T:p.H721H RS2077163 Triglycerides
6 33651129 1 ITPR3 C T exonic synonymous SNV ITPR3:NM_002224:exon35:c.C4743T:p.P1581P RS942636 Systemic lupus erythematosus (SLE):HDL cholesterol:Body mass index (BMI):College completion:Years of education
6 33653448 1 ITPR3 C T exonic synonymous SNV ITPR3:NM_002224:exon41:c.C5511T:p.G1837G RS749338 Fasting blood glucose:Childhood acute lymphoblastic leukemia:Rheumatoid arthritis:Gene expression of BAK1 in peripheral blood monocytes:Gene expression of ITPR3 in peripheral blood monocytes:Height:Body mass index (BMI):Obesity (body mass index (BMI)):College completion:Years of education
6 35050506 2 ANKS1A G A exonic synonymous SNV ANKS1A:NM_015245:exon18:c.G2748A:p.P916P RS2177382 Height:Adiponectin levels:Years of education
6 35260503 2 ZNF76 C T exonic synonymous SNV ZNF76:NM_001292032:exon10:c.C1104T:p.H368H,ZNF76:NM_003427:exon10:c.C1104T:p.H368H RS1557567 Fasting insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels
6 35260530 2 ZNF76 C T exonic synonymous SNV ZNF76:NM_001292032:exon10:c.C1131T:p.S377S,ZNF76:NM_003427:exon10:c.C1131T:p.S377S RS1557568 Fasting insulin:HOMA-B:HOMA-IR:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels:Gene expression of ZNF76 in normal prepouch ileum
6 35285720 2 DEF6 A C exonic nonsynonymous SNV DEF6:NM_022047:exon6:c.A860C:p.N287T RS2395617 Height:Late onset Alzheimer's disease:Gene expression of DEF6 in blood:Gene expression of ZNF76 in blood:Gene expression of PPARD in blood:Gene expression of ZNF76 in normal prepouch ileum:Gene expression of PPARD (ENSG00000112033) in dendritic cells
6 36098410 2 MAPK13 A C exonic synonymous SNV MAPK13:NM_002754:exon1:c.A51C:p.T17T RS1059227 Height:Gene expression of MAPK13 in normal prepouch ileum
6 36446975 1 KCTD20 G C exonic nonsynonymous SNV KCTD20:NM_001286580:exon3:c.G77C:p.S26T,KCTD20:NM_173562:exon4:c.G512C:p.S171T RS2239808 Simpson-Angus Scale:Barnes Akathisia Rating Scale:Fasting blood glucose:Total cholesterol:Height
6 37250112 2 TBC1D22B A G exonic synonymous SNV TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q RS195753 2 hour glucose:Total cholesterol:Rheumatoid arthritis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 39933339 2
6 41652604 1 TFEB T C exonic synonymous SNV TFEB:NM_001271943:exon8:c.A909G:p.P303P,TFEB:NM_001167827:exon9:c.A1206G:p.P402P,TFEB:NM_001271944:exon9:c.A1164G:p.P388P,TFEB:NM_001271945:exon9:c.A1164G:p.P388P,TFEB:NM_007162:exon10:c.A1164G:p.P388P
6 42600319 2 UBR2 A G exonic synonymous SNV UBR2:NM_015255:exon12:c.A1311G:p.L437L RS5014584 Advanced age-related macular degeneration (geographic atrophy)
6 42713618 2 TBCC A G exonic nonsynonymous SNV TBCC:NM_003192:exon1:c.T194C:p.V65A RS2234026 Total cholesterol:Infant head circumference:Aortic valve calcium
6 43014298 2 CUL7 T C exonic synonymous SNV CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q
6 43014299 2 CUL7 T C exonic nonsynonymous SNV CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R
6 43152573 1 CUL9 A G exonic synonymous SNV CUL9:NM_015089:exon2:c.A525G:p.L175L
6 43154091 2 CUL9 C G exonic synonymous SNV CUL9:NM_015089:exon4:c.C1149G:p.L383L
6 43184132 1 CUL9 A C exonic nonsynonymous SNV CUL9:NM_015089:exon31:c.A6173C:p.H2058P RS2273709 Stabilized warfarin dose:Schizophrenia:Schizophrenia:Autism with high IQ:Height:Waist hip ratio:Gene expression of CUL9 [transcript NM_015089, probe A_23_P311740] in liver:Schizophrenia:Gene expression of RP3-330M21.3 in blood:Obesity with early age of onset (age >2):Refractive error:Psychosis:Gene expression of CRIP3 (ENSG00000146215) in dendritic cells:Primary rhegmatogenous retinal detachment
6 43306346 2 ZNF318 A G exonic nonsynonymous SNV ZNF318:NM_014345:exon10:c.T5390C:p.V1797A RS1459675 Cystatin C in serum:Urinary albumin-to-creatinine ratio
6 43336771 2 ZNF318 C T exonic synonymous SNV ZNF318:NM_014345:exon1:c.G333A:p.R111R
6 44268371 2 AARS2 T C exonic synonymous SNV AARS2:NM_020745:exon22:c.A2871G:p.S957S RS325008 Total cholesterol:Salmonella-induced pyroptosis:Aortic valve calcium:Refractive error
6 44275011 2 AARS2 T C exonic nonsynonymous SNV AARS2:NM_020745:exon6:c.A1015G:p.I339V RS324136 Total cholesterol:Aortic valve calcium
6 44371714 1 CDC5L C T exonic synonymous SNV CDC5L:NM_001253:exon6:c.C708T:p.D236D RS6934058 Simpson-Angus Scale:Total cholesterol:Total cholesterol change with statins:LDL cholesterol:College completion
6 47563692 2 CD2AP C T exonic synonymous SNV CD2AP:NM_012120:exon12:c.C1204T:p.L402L
6 57393125 2 PRIM2 A G exonic unknown UNKNOWN RS927192 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
6 57398201 2 PRIM2 T C exonic unknown UNKNOWN RS62398997 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
6 57398226 2 PRIM2 T G exonic unknown UNKNOWN
6 57398264 2 PRIM2 A G exonic unknown UNKNOWN
6 57467100 2 PRIM2 G C exonic unknown UNKNOWN
6 57467175 2 PRIM2 A G exonic unknown UNKNOWN
6 57512510 2 PRIM2 T G exonic unknown UNKNOWN
6 57512565 2 PRIM2 T C exonic unknown UNKNOWN
6 57512678 2 PRIM2 G A exonic unknown UNKNOWN
6 74533192 2 CD109 T G exonic synonymous SNV CD109:NM_001159588:exon32:c.T3942G:p.A1314A,CD109:NM_001159587:exon33:c.T4122G:p.A1374A,CD109:NM_133493:exon33:c.T4173G:p.A1391A RS2917887 Cystatin C in serum:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Diabetic retinopathy in Type 2 diabetes mellitus
6 79708000 2 PHIP A C exonic nonsynonymous SNV PHIP:NM_017934:exon18:c.T1988G:p.V663G RS7747479 Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob disease
6 83075914 2 TPBG G A exonic synonymous SNV TPBG:NM_001166392:exon2:c.G1236A:p.T412T,TPBG:NM_006670:exon3:c.G1236A:p.T412T
6 90039670 2 UBE2J1 G C exonic nonsynonymous SNV UBE2J1:NM_016021:exon8:c.C685G:p.L229V RS10502 HOMA-B:Fasting blood glucose:Lp-PLA2 activity:PROP taste detection threshold
6 90340276 2 ANKRD6 G A exonic synonymous SNV ANKRD6:NM_001242814:exon13:c.G1545A:p.S515S,ANKRD6:NM_001242813:exon15:c.G1632A:p.S544S,ANKRD6:NM_001242809:exon16:c.G1737A:p.S579S,ANKRD6:NM_001242811:exon16:c.G1737A:p.S579S,ANKRD6:NM_014942:exon16:c.G1722A:p.S574S RS3210511 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol:Age at death with kuru exposure
6 90371202 2 MDN1 G A exonic synonymous SNV MDN1:NM_014611:exon88:c.C14661T:p.L4887L RS9444701 Hip bone mineral density (BMD):Schizophrenia:Chronic kidney disease:Rheumatoid arthritis:Body mass index (BMI):Sporadic Creutzfeldt-Jakob disease:Variant Creutzfeldt-Jakob disease:College completion
6 90390443 2 MDN1 C A exonic nonsynonymous SNV MDN1:NM_014611:exon74:c.G12130T:p.A4044S RS9353689 Differential exon level expression of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol change with statins:Partial epilepsy:HDL cholesterol:Gene expression of LYRM2 [probeset 227797_x_at] in sputum:Age at death with kuru exposure:Sporadic Creutzfeldt-Jakob disease:Variant Creutzfeldt-Jakob disease
6 90402482 2 MDN1 G A exonic nonsynonymous SNV MDN1:NM_014611:exon63:c.C10267T:p.H3423Y RS9294445 Hip bone mineral density (BMD):Differential exon level expression of ANKRD6 [probe 2916863] in brain cortex:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Hepatitis C virus (HCV)-induced liver fibrosis
6 90402840 2 MDN1 C G exonic synonymous SNV MDN1:NM_014611:exon63:c.G9909C:p.L3303L RS9351212 Chronic kidney disease:Rheumatoid arthritis
6 90418262 2 MDN1 C T exonic synonymous SNV MDN1:NM_014611:exon51:c.G7851A:p.T2617T RS2026634 Chronic kidney disease:Rheumatoid arthritis
6 90448092 2 MDN1 C T exonic nonsynonymous SNV MDN1:NM_014611:exon33:c.G4676A:p.S1559N RS4140446 Schizophrenia:Differential exon level expression of MDN1 [probe 2964449] in peripheral blood mononuclear cells:Differential exon level expression of MDN1 [probe 2964482] in brain cortex:Chronic kidney disease:Rheumatoid arthritis:Gene expression of MDN1 (ENSG00000112159) in dendritic cells treated with Mycobacterium tuberculosis
6 90455084 2 MDN1 A G exonic synonymous SNV MDN1:NM_014611:exon29:c.T4086C:p.H1362H RS9359861 Chronic kidney disease:Rheumatoid arthritis
6 90459454 2 MDN1 G A exonic synonymous SNV MDN1:NM_014611:exon25:c.C3423T:p.A1141A
6 97339078 2 NDUFAF4 A G exonic synonymous SNV NDUFAF4:NM_014165:exon3:c.T430C:p.L144L RS6684 Gene expression of GPR63 in CHB-JPT lymphoblastoid cell lines:Gene expression of GPR63 [probe 220993_s_at] in lymphoblastoid cell lines:Gene expression of probe 227559_at in lymphoblastoid cell lines:Fasting blood glucose:Severe diabetic retinopathy:Gene expression of NDUFAF4 in normal prepouch ileum
6 97339088 2 NDUFAF4 C T exonic synonymous SNV NDUFAF4:NM_014165:exon3:c.G420A:p.Q140Q RS11402 Gene expression of NDUFAF4 [transcript NM_014165, probe A_24_P171983] in liver:PROP taste detection threshold:Gene expression of NDUFAF4 in normal prepouch ileum
6 97613163 2 MMS22L T C exonic synonymous SNV MMS22L:NM_001350600:exon20:c.A2331G:p.P777P,MMS22L:NM_001350599:exon21:c.A3180G:p.P1060P,MMS22L:NM_198468:exon21:c.A3180G:p.P1060P RS1209290 Body mass index (BMI)
6 97626374 2 MMS22L A G exonic nonsynonymous SNV MMS22L:NM_001350600:exon17:c.T1775C:p.V592A,MMS22L:NM_001350599:exon18:c.T2624C:p.V875A,MMS22L:NM_198468:exon18:c.T2624C:p.V875A RS1737145 Abnormal Involuntary Movement Scale:Cardiac neonatal lupus:Body mass index (BMI):Gene expression of C6orf167 [probe ILMN_10450] in osteoblasts treated with dexamethasone
6 97677118 2 MMS22L G A exonic nonsynonymous SNV MMS22L:NM_001350600:exon13:c.C842T:p.T281M,MMS22L:NM_001350599:exon14:c.C1691T:p.T564M,MMS22L:NM_198468:exon14:c.C1691T:p.T564M RS9481410 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:Tardive dyskinesia:Rheumatoid arthritis
6 99817601 2 COQ3 A G exonic nonsynonymous SNV COQ3:NM_017421:exon7:c.T985C:p.Y329H
6 99819379 2 COQ3 T C exonic nonsynonymous SNV COQ3:NM_017421:exon6:c.A814G:p.S272G RS6925344 Cystatin C in serum:Adiponectin levels
6 100964147 2 ASCC3 G C exonic nonsynonymous SNV ASCC3:NM_006828:exon39:c.C5984G:p.S1995C RS240780 Rheumatoid arthritis:LDL cholesterol:Total cholesterol
6 101094554 2 ASCC3 A G exonic synonymous SNV ASCC3:NM_006828:exon22:c.T3570C:p.P1190P RS239239 Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Height:Diastolic blood pressure (DBP):Mitral annular calcium:Obesity with early age of onset (age >2)
6 106200202 2
6 106992464 2 CRYBG1 A G exonic synonymous SNV CRYBG1:NM_001624:exon10:c.A3834G:p.K1278K RS1799693 Mitral annular calcium
6 111696852 2 REV3L T C exonic synonymous SNV REV3L:NM_002912:exon14:c.A2706G:p.G902G,REV3L:NM_001286432:exon15:c.A2472G:p.G824G,REV3L:NM_001286431:exon16:c.A2472G:p.G824G RS458486 HDL cholesterol:Triglycerides change with statins:Total cholesterol change with statins:Birth weight:Serum Ala/Tyr:Serum Tyr/Val:Serum Phe/Tyr
6 111901453 2 TRAF3IP2 G T exonic nonsynonymous SNV TRAF3IP2:NM_001164281:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147686:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147200:exon4:c.C996A:p.H332Q RS1043730 Height:Urinary albumin-to-creatinine ratio
6 116757557 2 DSE T C exonic synonymous SNV DSE:NM_001080976:exon6:c.T1926C:p.N642N,DSE:NM_001322939:exon6:c.T1983C:p.N661N,DSE:NM_001322941:exon6:c.T1365C:p.N455N,DSE:NM_013352:exon6:c.T1926C:p.N642N,DSE:NM_001322937:exon7:c.T1926C:p.N642N,DSE:NM_001322938:exon7:c.T1926C:p.N642N,DSE:NM_001322940:exon7:c.T1365C:p.N455N RS560644 Salmonella-induced pyroptosis
6 130031215 2 ARHGAP18 T C exonic nonsynonymous SNV ARHGAP18:NM_033515:exon1:c.A67G:p.T23A RS3752536 Stabilized warfarin dose:Arthritis including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease
6 130381246 2 L3MBTL3 T C exonic synonymous SNV L3MBTL3:NM_001007102:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346550:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346551:exon9:c.T750C:p.P250P,L3MBTL3:NM_032438:exon10:c.T825C:p.P275P RS7451021 2 hour glucose:Serum creatinine:Gene expression of L3MBTL3 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Total cholesterol:Height:Waist hip ratio:Body mass index (BMI):Myopia:Infant head circumference:Acute lung injury following major trauma:Refractive error
6 132271952 2 CTGF G C exonic nonsynonymous SNV CTGF:NM_001901:exon2:c.C247G:p.H83D
6 132271959 2 CTGF T G exonic synonymous SNV CTGF:NM_001901:exon2:c.A240C:p.L80L
6 132271980 2 CTGF T G exonic synonymous SNV CTGF:NM_001901:exon2:c.A219C:p.P73P
6 138413269 2 PERP A G exonic synonymous SNV PERP:NM_022121:exon3:c.T492C:p.I164I RS648396 Gene expression of PERP in normal prepouch ileum
6 138413333 2 PERP G C exonic nonsynonymous SNV PERP:NM_022121:exon3:c.C428G:p.P143R
6 142718801 2 ADGRG6 G A exonic synonymous SNV ADGRG6:NM_001032394:exon9:c.G1392A:p.L464L,ADGRG6:NM_001032395:exon9:c.G1392A:p.L464L,ADGRG6:NM_020455:exon10:c.G1476A:p.L492L,ADGRG6:NM_198569:exon10:c.G1476A:p.L492L RS989946 LDL cholesterol
6 142758631 2 ADGRG6 A G exonic nonsynonymous SNV ADGRG6:NM_001032394:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_001032395:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_020455:exon23:c.A3380G:p.Q1127R,ADGRG6:NM_198569:exon23:c.A3380G:p.Q1127R RS1262686 LDL cholesterol
6 143091263 2 HIVEP2 A G exonic nonsynonymous SNV HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P RS109836 Triglycerides change with statins:Cystatin C in serum:Mitral annular calcium
6 151336739 2 MTHFD1L C G exonic synonymous SNV MTHFD1L:NM_001350490:exon6:c.C372G:p.S124S,MTHFD1L:NM_001242767:exon24:c.C2499G:p.S833S,MTHFD1L:NM_001242768:exon24:c.C2301G:p.S767S,MTHFD1L:NM_001350486:exon24:c.C2298G:p.S766S,MTHFD1L:NM_001350487:exon24:c.C2166G:p.S722S,MTHFD1L:NM_001350492:exon24:c.C2169G:p.S723S,MTHFD1L:NM_001350493:exon24:c.C2169G:p.S723S,MTHFD1L:NM_015440:exon24:c.C2496G:p.S832S
6 151789912 1 ARMT1 C T exonic synonymous SNV ARMT1:NM_001286562:exon4:c.C636T:p.H212H,ARMT1:NM_024573:exon5:c.C993T:p.H331H RS9397054 LDL cholesterol:HDL cholesterol:Years of education
6 152540278 2 SYNE1 A C exonic nonsynonymous SNV SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V RS2147377 Parkinson's disease
6 154771277 2 CNKSR3 A G exonic synonymous SNV CNKSR3:NM_173515:exon2:c.T168C:p.I56I RS9322467 2 hour glucose:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy)
6 155451352 1 TIAM2 G A exonic nonsynonymous SNV TIAM2:NM_012454:exon3:c.G995A:p.R332H RS931312 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Irritible bowel syndrome:Alzheimer's disease:Triglycerides change with statins:PROP taste detection threshold:Years of education:College completion:Adiponectin levels
6 155561760 2 TIAM2 T C exonic nonsynonymous SNV TIAM2:NM_001010927:exon2:c.T40C:p.S14P,TIAM2:NM_012454:exon15:c.T3265C:p.S1089P
6 158505088 2 SYNJ2 A G exonic synonymous SNV SYNJ2:NM_001178088:exon21:c.A2379G:p.G793G,SYNJ2:NM_003898:exon22:c.A3090G:p.G1030G RS1744173 Spine bone mineral density (BMD):Gene expression of RP11-120J8.2 in blood:Gene expression of GTF2H5 (ENSG00000185068) in dendritic cells treated with Mycobacterium tuberculosis
6 158509750 2 SYNJ2 A G exonic synonymous SNV SYNJ2:NM_001178088:exon23:c.A2691G:p.G897G,SYNJ2:NM_003898:exon24:c.A3402G:p.G1134G RS350289 Gene expression of RP11-120J8.2 in blood
6 158924088 2 TULP4 T C exonic synonymous SNV TULP4:NM_020245:exon13:c.T3393C:p.D1131D
6 160505199 2 IGF2R C G exonic synonymous SNV IGF2R:NM_000876:exon40:c.C6051G:p.L2017L RS614754 Serum creatinine:Height
6 161469774 2 MAP3K4 G A exonic nonsynonymous SNV MAP3K4:NM_001301072:exon3:c.G470A:p.R157H,MAP3K4:NM_005922:exon3:c.G470A:p.R157H,MAP3K4:NM_006724:exon3:c.G470A:p.R157H RS4559074 Fasting insulin:Rheumatoid arthritis:Triglycerides:Urinary albumin-to-creatinine ratio
6 170878793 1 TBP T C exonic synonymous SNV TBP:NM_001172085:exon5:c.T711C:p.N237N,TBP:NM_003194:exon6:c.T771C:p.N257N RS1042327 Gene expression of PDCD2 in Cerebellum:Gene expression of PDCD2 in Frontal cortex:Gene expression of PDCD2 in Temporal cortex:Gene expression of PDCD2 (probeID ILMN_1797684) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PDCD2 (probeID ILMN_1797684) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration
7 810219 2 DNAAF5 T C exonic nonsynonymous SNV DNAAF5:NM_017802:exon9:c.T1895C:p.V632A RS4720951 Gene expression of HEATR2 in normal prepouch ileum
7 814788 2 DNAAF5 G A exonic nonsynonymous SNV DNAAF5:NM_017802:exon11:c.G2228A:p.R743K RS3922641 Gene expression of HEATR2 in normal prepouch ileum
7 881668 2 SUN1 C T exonic nonsynonymous SNV SUN1:NM_001130965:exon3:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171945:exon5:c.C415T:p.H139Y RS6461378 Celiac disease:Irritible bowel syndrome:HOMA-B:Gene expression of C7orf20 in blood:Gene expression of CENTA1 in blood:Gene expression of HEATR2 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Cognitive response of healthy volunteers to topiramate treatment as measure by the TrailsA cognitive test:Sporadic Creutzfeldt-Jakob disease:College completion:Gene expression of HEATR2 in normal prepouch ileum
7 1533513 2 INTS1 A G exonic synonymous SNV INTS1:NM_001080453:exon15:c.T1945C:p.L649L
7 1542697 2 INTS1 G A exonic synonymous SNV INTS1:NM_001080453:exon3:c.C189T:p.A63A RS3752714 LDL cholesterol change with statins:Serum creatinine:Chronic kidney disease:Gene expression of INTS1 in normal prepouch ileum
7 1542814 2 INTS1 T C exonic synonymous SNV INTS1:NM_001080453:exon3:c.A72G:p.P24P RS3752715 LDL cholesterol change with statins:Serum creatinine:Chronic kidney disease
7 4802029 2 FOXK1 T G exonic synonymous SNV FOXK1:NM_001037165:exon9:c.T2136G:p.G712G
7 5105133 2 RBAK C T exonic synonymous SNV RBAK:NM_021163:exon5:c.C2046T:p.N682N,RBAK:NM_001204456:exon6:c.C2046T:p.N682N
7 5254227 2 WIPI2 C G exonic synonymous SNV WIPI2:NM_001033520:exon1:c.C96G:p.V32V,WIPI2:NM_001033519:exon3:c.C219G:p.V73V,WIPI2:NM_016003:exon3:c.C219G:p.V73V,WIPI2:NM_001033518:exon4:c.C273G:p.V91V,WIPI2:NM_015610:exon4:c.C273G:p.V91V RS4587243 HOMA-B
7 5372406 2 TNRC18 G T exonic synonymous SNV TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R
7 5427720 2 TNRC18 A G exonic nonsynonymous SNV TNRC18:NM_001080495:exon5:c.T1735C:p.S579P
7 5540769 2 FBXL18 A C exonic synonymous SNV FBXL18:NM_001321213:exon3:c.T1131G:p.T377T,FBXL18:NM_024963:exon3:c.T1131G:p.T377T
7 6071060 2 ANKRD61 G A exonic synonymous SNV ANKRD61:NM_001271700:exon1:c.G54A:p.K18K
7 6075823 2 ANKRD61 A T exonic nonsynonymous SNV ANKRD61:NM_001271700:exon3:c.A1063T:p.M355L RS2302334 Gene expression of HRI in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of EIF2AK1 [probe 217735_s_at] in lymphoblastoid cell lines:HDL cholesterol:Fasting blood glucose:Gene expression of JTV1 in peripheral blood monocytes:Total cholesterol:Bipolar disorder:Paternal transmission distortion:Transmission distortion
7 6204999 1 CYTH3 A C exonic synonymous SNV CYTH3:NM_004227:exon12:c.T1032G:p.T344T
7 6505901 2 KDELR2 T C exonic synonymous SNV KDELR2:NM_006854:exon4:c.A405G:p.L135L
7 7646651 2 MIOS G T exonic synonymous SNV MIOS:NM_019005:exon13:c.G2556T:p.S852S RS7806046 Years of education
7 7646687 2 MIOS A G exonic synonymous SNV MIOS:NM_019005:exon13:c.A2592G:p.T864T RS4222 Stabilized warfarin dose:Neuroticism:Childhood acute lymphoblastic leukemia:Total cholesterol:Chronic kidney disease:LDL cholesterol:Asthma:Waist hip ratio:Hypertension (early onset hypertension)
7 9863112 2
7 16655387 1 ANKMY2 C T exonic synonymous SNV ANKMY2:NM_020319:exon5:c.G513A:p.T171T RS11540037 Sporadic Creutzfeldt-Jakob disease:Variant Creutzfeldt-Jakob disease:Parkinson's disease
7 16834597 1 AGR2 A G exonic synonymous SNV AGR2:NM_006408:exon7:c.T441C:p.N147N RS6842 Infant head circumference:Gene expression of TSPAN13 in normal prepouch ileum
7 24742436 1 DFNA5 T C exonic synonymous SNV DFNA5:NM_001127454:exon8:c.A708G:p.A236A,DFNA5:NM_001127453:exon9:c.A1200G:p.A400A,DFNA5:NM_004403:exon9:c.A1200G:p.A400A RS17149912 LDL cholesterol:LDL cholesterol:College completion:Diabetic retinopathy in Type 2 diabetes mellitus:Years of education
7 24888730 1 OSBPL3 G A exonic synonymous SNV OSBPL3:NM_145320:exon10:c.C1131T:p.L377L,OSBPL3:NM_015550:exon12:c.C1224T:p.L408L
7 26245998 1 CBX3 G A exonic nonsynonymous SNV CBX3:NM_007276:exon3:c.G35A:p.G12E,CBX3:NM_016587:exon3:c.G35A:p.G12E
7 27169093 2 HOXA4 T G exonic synonymous SNV HOXA4:NM_002141:exon2:c.A714C:p.R238R RS2158218 Mitral annular calcium
7 27170145 2 HOXA4 T G exonic nonsynonymous SNV HOXA4:NM_002141:exon1:c.A208C:p.T70P
7 27196069 2 HOXA7 A C exonic synonymous SNV HOXA7:NM_006896:exon1:c.T96G:p.A32A RS2301720 Gene expression of probe 228642_at in lymphoblastoid cell lines:Gene expression of probe 1557051_s_at in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body mass index (BMI):Bipolar disorder:Years of education:Mitral annular calcium
7 27196113 2 HOXA7 C T exonic nonsynonymous SNV HOXA7:NM_006896:exon1:c.G52A:p.A18T RS2301721 Gene expression of probe 1557051_s_at in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Waist hip ratio:Body mass index (BMI):Gene expression of [probe 5340519 centered at chr7:27104823] in blood:College completion
7 32529936 2 LSM5 G C exonic synonymous SNV LSM5:NM_012322:exon1:c.C42G:p.P14P RS1584614 Gene expression of LOC402476 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DPY19L1P1 [probe 215102_at] in lymphoblastoid cell lines:HDL cholesterol:Cystatin C in serum:Systolic blood pressure (SBP):Adiponectin levels:Infant head circumference
7 33060946 1 NT5C3A A G exonic synonymous SNV NT5C3A:NM_001002010:exon5:c.T393C:p.Y131Y,NT5C3A:NM_001002009:exon6:c.T276C:p.Y92Y,NT5C3A:NM_016489:exon6:c.T276C:p.Y92Y,NT5C3A:NM_001166118:exon7:c.T240C:p.Y80Y RS3750117 Chronic kidney disease:Serum creatinine:Cystatin C in serum:Gene expression of NT5C3 (probeID ILMN_2352121) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NT5C3 (probeID ILMN_2352121) in cerebellum in Alzheimer's disease cases and controls
7 36320821 2 EEPD1 G A exonic nonsynonymous SNV EEPD1:NM_030636:exon4:c.G1028A:p.S343N RS196586 Systolic blood pressure (SBP)
7 36338749 2 EEPD1 T C exonic synonymous SNV EEPD1:NM_030636:exon8:c.T1644C:p.D548D RS196613 HOMA-IR:Height
7 43664280 2 STK17A A G exonic nonsynonymous SNV STK17A:NM_004760:exon7:c.A1084G:p.K362E RS1044141 Gene expression of C7orf44 [probe 209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in blood:Gene expression of [probe 6510438 centered at chr7:43637667] in blood:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
7 43846603 1 BLVRA A G exonic synonymous SNV BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G RS7738 Fasting blood glucose:Triglycerides change with statins:Chronic kidney disease:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
7 43917274 2 URGCP A G exonic synonymous SNV URGCP:NM_017920:exon5:c.T1761C:p.H587H,URGCP:NM_001077663:exon6:c.T1788C:p.H596H,URGCP:NM_001077664:exon6:c.T1659C:p.H553H,URGCP:NM_001290075:exon6:c.T1659C:p.H553H,URGCP:NM_001290076:exon7:c.T1659C:p.H553H RS2232103 Gene expression of URG4 [probe 244046_at] in lymphoblastoid cell lines:Total cholesterol change with statins:LDL cholesterol change with statins:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
7 44606098 2 DDX56 C T exonic synonymous SNV DDX56:NM_001257189:exon12:c.G1395A:p.V465V,DDX56:NM_019082:exon13:c.G1515A:p.V505V RS6656 LDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Adiponectin levels
7 44924627 1 PURB A C exonic synonymous SNV PURB:NM_033224:exon1:c.T321G:p.A107A
7 50673029 2 GRB10 T C exonic synonymous SNV GRB10:NM_001001549:exon11:c.A1209G:p.A403A,GRB10:NM_001001550:exon12:c.A1173G:p.A391A,GRB10:NM_001350815:exon12:c.A1461G:p.A487A,GRB10:NM_001001555:exon13:c.A1173G:p.A391A,GRB10:NM_001350816:exon14:c.A1329G:p.A443A,GRB10:NM_001350814:exon15:c.A1347G:p.A449A RS4947710 LDL cholesterol:Triglycerides:HDL cholesterol:Fasting blood glucose:HOMA-IR:Fasting insulin:Mitral annular calcium
7 55229255 1 EGFR G A exonic nonsynonymous SNV EGFR:NM_001346941:exon7:c.G761A:p.R254K,EGFR:NM_001346897:exon12:c.G1427A:p.R476K,EGFR:NM_001346899:exon12:c.G1427A:p.R476K,EGFR:NM_001346898:exon13:c.G1562A:p.R521K,EGFR:NM_001346900:exon13:c.G1403A:p.R468K,EGFR:NM_005228:exon13:c.G1562A:p.R521K,EGFR:NM_201282:exon13:c.G1562A:p.R521K,EGFR:NM_201284:exon13:c.G1562A:p.R521K RS2227983 Chronic kidney disease:Bipolar disorder
7 56136260 2 SUMF2 C A exonic nonsynonymous SNV SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E
7 64291991 2 ZNF138 T A exonic nonsynonymous SNV ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y
7 64438667 2 ERV3-1-ZNF117;ZNF117 G A exonic stopgain ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X
7 64451699 2 ERV3-1 T C exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A1706G:p.N569S RS4717229 Gene expression of RABGEF1 in peripheral blood monocytes:Microalbuminuria:Gene expression of ERV3-1 in normal prepouch ileum:Salmonella-induced pyroptosis
7 64451963 2 ERV3-1 T C exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A1442G:p.N481S RS4618579 Adiponectin levels
7 64453136 2 ERV3-1 G A exonic nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.C269T:p.T90I RS6460219 Adiponectin levels
7 72744195 2 FKBP6 G A exonic nonsynonymous SNV FKBP6:NM_001281304:exon3:c.G218A:p.R73Q,FKBP6:NM_001135211:exon4:c.G293A:p.R98Q,FKBP6:NM_003602:exon4:c.G308A:p.R103Q
7 73151644 2 ABHD11 A G exonic synonymous SNV ABHD11:NM_001321382:exon4:c.T201C:p.Y67Y,ABHD11:NM_148912:exon4:c.T540C:p.Y180Y,ABHD11:NM_148913:exon4:c.T519C:p.Y173Y RS6460052 Fasting insulin:Total cholesterol:Serum creatinine:Gene expression of WBSCR27 in peripheral blood monocytes:Gene expression of NONO in peripheral blood monocytes:Gene expression of ABHD11 in peripheral blood monocytes:Autism:HDL cholesterol:LDL cholesterol:Microalbuminuria:Methylamine:O-Phosphocholine:Gene expression change of WBSCR22 (ENSG00000071462) in dendritic cells after treatment with Mycobacterium tuberculosis:Aortic valve calcium:Obesity with early age of onset (age >2)
7 73753250 1 CLIP2 T C exonic synonymous SNV CLIP2:NM_003388:exon3:c.T594C:p.T198T,CLIP2:NM_032421:exon3:c.T594C:p.T198T RS539518 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
7 73814749 2 CLIP2 G C exonic nonsynonymous SNV CLIP2:NM_032421:exon14:c.G2825C:p.R942P,CLIP2:NM_003388:exon15:c.G2930C:p.R977P RS2522943 Cystatin C in serum:HDL cholesterol
7 73932560 1 GTF2IRD1 A G exonic synonymous SNV GTF2IRD1:NM_001199207:exon5:c.A609G:p.E203E,GTF2IRD1:NM_005685:exon5:c.A513G:p.E171E,GTF2IRD1:NM_016328:exon5:c.A513G:p.E171E
7 75513062 2 RHBDD2 A G exonic synonymous SNV RHBDD2:NM_001346188:exon2:c.A225G:p.A75A,RHBDD2:NM_001346189:exon2:c.A189G:p.A63A,RHBDD2:NM_001040456:exon3:c.A633G:p.A211A,RHBDD2:NM_001346187:exon3:c.A210G:p.A70A,RHBDD2:NM_001040457:exon4:c.A210G:p.A70A,RHBDD2:NM_001346186:exon5:c.A210G:p.A70A RS42183 Triglycerides:Chronic kidney disease:Cystatin C in serum:Total cholesterol:LDL cholesterol
7 75614953 1 POR T C exonic synonymous SNV POR:NM_000941:exon13:c.T1455C:p.A485A RS2228104 Total cholesterol:Triglycerides:LDL cholesterol:Birth weight
7 75621827 2 TMEM120A A G exonic unknown UNKNOWN
7 75630274 2 STYXL1;STYXL1 T C exonic;splicing synonymous SNV STYXL1:NM_001317787:exon6:c.A456G:p.Q152Q,STYXL1:NM_001317789:exon6:c.A330G:p.Q110Q,STYXL1:NM_001317785:exon8:c.A744G:p.Q248Q,STYXL1:NM_001317786:exon8:c.A744G:p.Q248Q,STYXL1:NM_016086:exon8:c.A744G:p.Q248Q RS8565 Rheumatoid arthritis:Triglycerides:Total cholesterol:LDL cholesterol:College completion:Gene expression of STYXL1 (probeID ILMN_2210729) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Gene expression of STYXL1 (probeID ILMN_2210729) in temporal cortex in Alzheimer's disease cases and controls
7 75659815 1 STYXL1 T C exonic synonymous SNV STYXL1:NM_001317785:exon2:c.A27G:p.P9P,STYXL1:NM_001317786:exon2:c.A27G:p.P9P,STYXL1:NM_001317787:exon2:c.A27G:p.P9P,STYXL1:NM_001317788:exon2:c.A27G:p.P9P,STYXL1:NM_016086:exon2:c.A27G:p.P9P RS1044483 Rheumatoid arthritis:LDL cholesterol:College completion:Parkinson's disease:Obesity with early age of onset (age >2):Gene expression of STYXL1 (probeID ILMN_2210729) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STYXL1 (probeID ILMN_2210729) in temporal cortex in Alzheimer's disease cases and controls
7 75677504 1 MDH2 C T exonic nonsynonymous SNV MDH2:NM_001282403:exon1:c.C26T:p.A9V,MDH2:NM_005918:exon1:c.C26T:p.A9V
7 76110047 1 DTX2 C G exonic nonsynonymous SNV DTX2:NM_001102596:exon1:c.C221G:p.P74R,DTX2:NM_001102595:exon2:c.C221G:p.P74R,DTX2:NM_001102594:exon3:c.C221G:p.P74R,DTX2:NM_020892:exon4:c.C221G:p.P74R
7 76131695 2 DTX2 A G exonic synonymous SNV DTX2:NM_001102596:exon5:c.A1170G:p.L390L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_020892:exon9:c.A1311G:p.L437L
7 76132898 2 DTX2 T C exonic synonymous SNV DTX2:NM_001102596:exon6:c.T1404C:p.G468G,DTX2:NM_001102595:exon8:c.T1545C:p.G515G,DTX2:NM_001102594:exon9:c.T1545C:p.G515G,DTX2:NM_020892:exon10:c.T1545C:p.G515G
7 77035392 2 GSAP T C exonic nonsynonymous SNV GSAP:NM_001350896:exon2:c.A140G:p.H47R,GSAP:NM_001350897:exon2:c.A140G:p.H47R,GSAP:NM_001350898:exon2:c.A140G:p.H47R,GSAP:NM_001350899:exon2:c.A140G:p.H47R,GSAP:NM_017439:exon2:c.A140G:p.H47R RS6949654 Gene expression of PION [probe 213142_x_at] in lymphoblastoid cell lines:Gene expression of PION [probe 222150_s_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):LDL cholesterol:Serum creatinine:Asthma:Systolic blood pressure (SBP):Bipolar disorder
7 77247821 2 PTPN12 G A exonic nonsynonymous SNV PTPN12:NM_001131009:exon11:c.G574A:p.V192I,PTPN12:NM_001131008:exon12:c.G607A:p.V203I,PTPN12:NM_002835:exon12:c.G964A:p.V322I RS9640663 Gene expression of probe 244356_at in lymphoblastoid cell lines:Stabilized warfarin dose:Multiple sclerosis, age of onset:Differential exon level expression of PTPN12 [probe 3009997] in brain cortex:Tardive dyskinesia:Serum creatinine:HDL cholesterol:Waist hip ratio:Body mass index (BMI):Gene expression of TMEM60 in blood:Adiponectin levels
7 89912301 2 CFAP69 G A exonic nonsynonymous SNV CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M RS1029365 2 hour glucose:Fasting blood glucose:Partial epilepsy:Birth weight:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 in normal prepouch ileum:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases and controls:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases
7 89983808 2 GTPBP10 T G exonic nonsynonymous SNV GTPBP10:NM_033107:exon3:c.T264G:p.C88W RS42663 Fasting blood glucose:HDL cholesterol change with statins:Methylation levels at chr7:89678667-89678717 [hg18 coord, probe cg27626102] in Cerebellum:Triglycerides:Aortic valve calcium:Birth weight
7 89984409 2 GTPBP10 A G exonic nonsynonymous SNV GTPBP10:NM_033107:exon4:c.A329G:p.N110S RS42664 Gene expression of GTPBP10 [probe 234311_s_at] in lymphoblastoid cell lines:2 hour glucose:Fasting blood glucose:Partial epilepsy:Advanced age-related macular degeneration (geographic atrophy):Diabetic retinopathy in Type 2 diabetes mellitus
7 91503228 1 MTERF1 C T exonic nonsynonymous SNV MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T RS10266424 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Height:Infant head circumference:Advanced age-related macular degeneration:College completion
7 91714911 2 AKAP9 C T exonic nonsynonymous SNV AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S
7 92028039 1 ANKIB1 C A exonic nonsynonymous SNV ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M RS38794 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Triglycerides:HOMA-B:Aortic valve calcium
7 92131289 2 PEX1 G T exonic synonymous SNV PEX1:NM_001282677:exon13:c.C2160A:p.G720G,PEX1:NM_000466:exon14:c.C2331A:p.G777G,PEX1:NM_001282678:exon14:c.C1707A:p.G569G
7 95001555 2 PON3 C T exonic synonymous SNV PON3:NM_000940:exon4:c.G297A:p.A99A RS1053275 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Rheumatoid arthritis:Major depressive disorder:Total cholesterol:Gene expression of PON2 in blood:Bipolar disorder:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy):Gene expression of PON2 in normal prepouch ileum:Gene expression of PON3 in normal prepouch ileum:Gene expression of PON1 in normal prepouch ileum
7 97922851 1 BAIAP2L1 C T exonic synonymous SNV BAIAP2L1:NM_018842:exon14:c.G1518A:p.S506S RS12728 Triglycerides:Advanced age-related macular degeneration (geographic atrophy)
7 97933601 2 BAIAP2L1 C T exonic synonymous SNV BAIAP2L1:NM_018842:exon12:c.G1329A:p.L443L RS1045916 HOMA-B:Cystatin C in serum:College completion
7 98782750 2 KPNA7 C T exonic synonymous SNV KPNA7:NM_001145715:exon7:c.G936A:p.T312T RS10953283 HOMA-IR:Fasting insulin:Height:Years of education
7 99032458 1 ATP5J2-PTCD1;PTCD1 C T exonic synonymous SNV PTCD1:NM_015545:exon2:c.G408A:p.P136P,ATP5J2-PTCD1:NM_001198879:exon3:c.G555A:p.P185P
7 99047978 1 CPSF4 T C exonic synonymous SNV CPSF4:NM_001081559:exon4:c.T387C:p.R129R,CPSF4:NM_001318160:exon4:c.T387C:p.R129R,CPSF4:NM_001318161:exon4:c.T387C:p.R129R,CPSF4:NM_001318162:exon4:c.T228C:p.R76R,CPSF4:NM_006693:exon4:c.T387C:p.R129R RS883403 Fasting blood glucose:Cystatin C in serum:Rheumatoid arthritis:Height:Serum dehydroepiandrosterone sulphate (DHEAS):Serum dehydroepiandrosterone sulphate (DHEAS) (males):Serum dehydroepiandrosterone sulphate (DHEAS) (females):Adiponectin levels
7 99145845 1 FAM200A C T exonic synonymous SNV FAM200A:NM_145111:exon2:c.G186A:p.L62L RS10238965 Cystatin C in serum:Rheumatoid arthritis:Height:Serum dehydroepiandrosterone sulphate (DHEAS) (males):Serum dehydroepiandrosterone sulphate (DHEAS):Serum dehydroepiandrosterone sulphate (DHEAS) (females):Gene expression of ZKSCAN5 (ENSG00000196652) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of ZKSCAN5 (ENSG00000196652) in dendritic cells
7 99217424 1 ZSCAN25 G A exonic synonymous SNV ZSCAN25:NM_001350979:exon2:c.G195A:p.E65E,ZSCAN25:NM_001350985:exon2:c.G195A:p.E65E,ZSCAN25:NM_001350984:exon4:c.G195A:p.E65E,ZSCAN25:NM_001350986:exon4:c.G195A:p.E65E,ZSCAN25:NM_145115:exon4:c.G195A:p.E65E,ZSCAN25:NM_001350980:exon5:c.G195A:p.E65E RS10282706 Total cholesterol:HDL cholesterol change with statins:HDL cholesterol
7 99227172 1 ZSCAN25 A G exonic synonymous SNV ZSCAN25:NM_001350979:exon6:c.A1164G:p.E388E,ZSCAN25:NM_001350981:exon8:c.A672G:p.E224E,ZSCAN25:NM_001350983:exon8:c.A672G:p.E224E,ZSCAN25:NM_145115:exon8:c.A1164G:p.E388E,ZSCAN25:NM_001350980:exon9:c.A1164G:p.E388E,ZSCAN25:NM_001350982:exon9:c.A672G:p.E224E RS1859690 Gene expression of ATP5J2 [probe ILMN_13901] in osteoblasts:Total cholesterol:HDL cholesterol change with statins:HDL cholesterol:Gene expression of ARPC1B in blood:Gene expression of BUD31 in blood:Gene expression of CYP3A5 in liver:Primary rhegmatogenous retinal detachment:Tetrology of fallot
7 99747130 1 LAMTOR4 G A exonic synonymous SNV LAMTOR4:NM_001008395:exon2:c.G12A:p.A4A,LAMTOR4:NM_001318236:exon2:c.G12A:p.A4A RS12878 Chronic kidney disease:Serum creatinine:Gene expression of ZKSCAN1 in peripheral blood monocytes:Gene expression of ZSCAN21 in peripheral blood monocytes:Gene expression of AP4M1 in peripheral blood monocytes:Microalbuminuria:Birth weight
7 100281768 2 GIGYF1 T C exonic synonymous SNV GIGYF1:NM_022574:exon15:c.A1743G:p.P581P RS221794 Serum creatinine:Total cholesterol:Height:Red blood cell count (RBC):Mean corpuscular hemoglobin concentration (MCHC):Heart rate
7 100285476 1 GIGYF1 C T exonic nonsynonymous SNV GIGYF1:NM_022574:exon3:c.G196A:p.A66T
7 100458795 2 SLC12A9 T C exonic synonymous SNV SLC12A9:NM_001267814:exon8:c.T987C:p.A329A,SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A RS314378 Total cholesterol:Diastolic blood pressure (DBP):Bipolar disorder
7 100482026 2 SRRT T C exonic synonymous SNV SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L RS15624 Adiponectin levels
7 100486656 2 UFSP1 T G exonic synonymous SNV UFSP1:NM_001015072:exon1:c.A237C:p.V79V RS13241786 Total cholesterol:Diastolic blood pressure (DBP):Bipolar disorder
7 101844851 1 CUX1 A G exonic synonymous SNV CUX1:NM_001202543:exon18:c.A2307G:p.P769P,CUX1:NM_181552:exon18:c.A2274G:p.P758P
7 101916647 2 CUX1 A G exonic synonymous SNV CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A
7 101917521 2 CUX1 G A exonic nonsynonymous SNV CUX1:NM_001202544:exon15:c.G1342A:p.A448T,CUX1:NM_001202545:exon15:c.G1252A:p.A418T,CUX1:NM_001202546:exon15:c.G1273A:p.A425T,CUX1:NM_001913:exon16:c.G1390A:p.A464T,CUX1:NM_181500:exon16:c.G1384A:p.A462T RS803064 Triglycerides change with statins:Body mass index (BMI):Urinary albumin-to-creatinine ratio
7 102389833 2 FAM185A G C exonic nonsynonymous SNV FAM185A:NM_001145268:exon1:c.G179C:p.G60A,FAM185A:NM_001145269:exon1:c.G179C:p.G60A,FAM185A:NM_001350987:exon1:c.G179C:p.G60A
7 102743893 2 NAPEPLD C T exonic nonsynonymous SNV NAPEPLD:NM_001122838:exon5:c.G1165A:p.D389N,NAPEPLD:NM_198990:exon5:c.G1165A:p.D389N RS3181009 Gene expression of SVH in YRI lymphoblastoid cell lines
7 103007949 2 PSMC2 A C exonic synonymous SNV PSMC2:NM_002803:exon10:c.A934C:p.R312R
7 105903904 2 NAMPT T C exonic synonymous SNV NAMPT:NM_005746:exon7:c.A903G:p.S301S
7 107838464 2 NRCAM G T exonic synonymous SNV NRCAM:NM_001037132:exon11:c.C1287A:p.V429V,NRCAM:NM_001193583:exon13:c.C1230A:p.V410V,NRCAM:NM_001193584:exon13:c.C1230A:p.V410V,NRCAM:NM_005010:exon13:c.C1269A:p.V423V,NRCAM:NM_001193582:exon14:c.C1287A:p.V429V RS381318 Eye color:Hypertension (early onset hypertension)
7 116528240 2 CAPZA2 C T exonic synonymous SNV CAPZA2:NM_006136:exon2:c.C99T:p.F33F RS4808 Triglycerides change with statins:Cystatin C in serum:Gene expression of CAPZA2 in peripheral blood monocytes
7 120740103 2 CPED1 G T exonic synonymous SNV CPED1:NM_001105533:exon6:c.G873T:p.T291T,CPED1:NM_024913:exon7:c.G873T:p.T291T RS798937 Spine bone mineral density (BMD):Total cholesterol:Height:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease
7 120764477 2 CPED1 G C exonic synonymous SNV CPED1:NM_001105533:exon7:c.G1011C:p.A337A,CPED1:NM_024913:exon8:c.G1011C:p.A337A RS1524498 Total cholesterol change with statins:LDL cholesterol change with statins:Total cholesterol:Total body bone mineral density (BMD):Advanced age-related macular degeneration
7 128038555 1 IMPDH1 C G exonic synonymous SNV IMPDH1:NM_001142575:exon6:c.G657C:p.L219L,IMPDH1:NM_001142573:exon7:c.G732C:p.L244L,IMPDH1:NM_001142574:exon7:c.G717C:p.L239L,IMPDH1:NM_001304521:exon7:c.G780C:p.L260L,IMPDH1:NM_183243:exon8:c.G879C:p.L293L,IMPDH1:NM_001102605:exon9:c.G957C:p.L319L,IMPDH1:NM_001142576:exon9:c.G888C:p.L296L,IMPDH1:NM_000883:exon10:c.G987C:p.L329L
7 128141865 1 METTL2B T C exonic synonymous SNV METTL2B:NM_018396:exon9:c.T1032C:p.N344N RS1053124 Gene expression of IMPDH1 in peripheral blood monocytes:Gene expression of SLC25A43 in peripheral blood monocytes:Triglycerides
7 128607384 1 TNPO3 G A exonic synonymous SNV TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A RS8043 Gene expression of IRF5 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting insulin:Triglycerides change with statins:Total cholesterol change with statins:Body mass index (BMI):Systolic blood pressure (SBP):Gene expression of IRF5 (probeID ILMN_1670576) in whole blood:Gene expression of IRF5 (probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of IRF5 (probeID ILMN_2312606) in cerebellum in Alzheimer's disease cases and controls
7 128641226 1 TNPO3 G C exonic synonymous SNV TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L RS2305324 Parkinson's disease (PD):Gene expression of IRF5 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TNIP3 in CHB-JPT lymphoblastoid cell lines:Gene expression of IRF5 [probe 205469_s_at] in lymphoblastoid cell lines:Gene expression of IRF5 [probe 239412_at] in lymphoblastoid cell lines:HOMA-B:HOMA-IR:Fasting insulin:Triglycerides change with statins:Waist hip ratio:Systolic blood pressure (SBP):Adiponectin levels:Gene expression of IRF5 (probeID ILMN_2312606) in cerebellum in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of IRF5 (probeID ILMN_2312606) in temporal cortex in Alzheimer's disease cases and controls
7 128846328 2 SMO G C exonic synonymous SNV SMO:NM_005631:exon6:c.G1164C:p.G388G RS2228617 HDL cholesterol:HDL cholesterol change with statins:Rheumatoid arthritis:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2)
7 129297332 1 NRF1 T G exonic synonymous SNV NRF1:NM_001040110:exon2:c.T141G:p.S47S,NRF1:NM_001293163:exon2:c.T141G:p.S47S,NRF1:NM_005011:exon2:c.T141G:p.S47S RS1882094 HDL cholesterol:Premature ovarian failure:Biploar disorder (bipolar schizoaffective disorder):Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):Major depressive disorder:Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (females):Late onset Alzheimer's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):College completion
7 129950740 1 CPA4 G T exonic nonsynonymous SNV CPA4:NM_001163446:exon8:c.G808T:p.G270C,CPA4:NM_016352:exon9:c.G907T:p.G303C RS2171492 Arthritis including non-Rheumatoid:Triglycerides:Serum creatinine:Chronic kidney disease:Lp-PLA2 activity:Total cholesterol:Triglycerides:Gene expression of CPA5 in CD4+ lymphocytes:Gene expression of CPA5 in blood
7 129962360 2 CPA4 A G exonic synonymous SNV CPA4:NM_001163446:exon10:c.A1011G:p.A337A,CPA4:NM_016352:exon11:c.A1110G:p.A370A
7 131190696 1 PODXL T C exonic synonymous SNV PODXL:NM_005397:exon7:c.A1314G:p.A438A,PODXL:NM_001018111:exon8:c.A1410G:p.A470A RS6651125 Schizophrenia:Salmonella-induced pyroptosis
7 134225827 2 AKR1B10 A G exonic nonsynonymous SNV AKR1B10:NM_020299:exon10:c.A937G:p.N313D RS4728329 HDL cholesterol:Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer:Infant head circumference:Coronary artery disease (CAD)
7 134849213 1 TMEM140 G A exonic nonsynonymous SNV TMEM140:NM_018295:exon2:c.G20A:p.R7Q RS3800592 Triglycerides change with statins:Years of education:Parkinson's disease:College completion
7 134849280 2 TMEM140 T A exonic nonsynonymous SNV TMEM140:NM_018295:exon2:c.T87A:p.F29L RS292501 Gene expression of MGC5242 in YRI lymphoblastoid cell lines:Simpson-Angus Scale:Breast cancer
7 134849577 1 TMEM140 A C exonic synonymous SNV TMEM140:NM_018295:exon2:c.A384C:p.A128A RS2288237 Gene expression of TMEM140 (ENSG00000146859) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of TMEM140 (ENSG00000146859) in dendritic cells
7 134889141 1 WDR91 G A exonic nonsynonymous SNV WDR91:NM_014149:exon6:c.C770T:p.P257L RS292592 Gene expression of MGC5242 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Longstanding arthritis:Differential exon level expression of WDR91 [probe 3074291] in peripheral blood mononuclear cells:Fasting blood glucose:Triglycerides:Gene expression of TMEM140///C7orf49 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
7 135047703 2 CNOT4 T C exonic synonymous SNV CNOT4:NM_001190847:exon11:c.A1863G:p.T621T,CNOT4:NM_013316:exon11:c.A1854G:p.T618T,CNOT4:NM_001190849:exon12:c.A2067G:p.T689T,CNOT4:NM_001190850:exon12:c.A2076G:p.T692T RS6969632 Salmonella-induced pyroptosis
7 135304273 2 NUP205 G C exonic nonsynonymous SNV NUP205:NM_001329434:exon29:c.G2992C:p.E998Q,NUP205:NM_015135:exon29:c.G4066C:p.E1356Q RS7810767 Urinary albumin-to-creatinine ratio:Salmonella-induced pyroptosis
7 137600690 2 CREB3L2 C T exonic nonsynonymous SNV CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_001318246:exon3:c.G199A:p.V67I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I RS273957 Recurrent major depressive disorder:HOMA-B:LDL cholesterol change with statins:Gene expression of CREB3L2 [probe 212345_s_at] in prefrontal cortex:Serum creatinine:Partial epilepsy:Total cholesterol:HDL cholesterol:Height:Osteoarthritis:Knee osteoarthritis:Allergic rhinitis:Atopy:Transmission distortion
7 138732457 1 ZC3HAV1 G A exonic synonymous SNV ZC3HAV1:NM_020119:exon13:c.C2592T:p.F864F RS3735008 Differential exon level expression of ZC3HAV1 [probe 3075569] in peripheral blood mononuclear cells:Comorbid depressive syndrome and alcohol dependence:Refractive error:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 138732497 1 ZC3HAV1 G A exonic nonsynonymous SNV ZC3HAV1:NM_020119:exon13:c.C2552T:p.T851I RS3735007 Parkinson's disease
7 139026152 1 C7orf55-LUC7L2;FMC1 T G exonic nonsynonymous SNV C7orf55-LUC7L2:NM_001244584:exon1:c.T22G:p.S8A,FMC1:NM_197964:exon1:c.T22G:p.S8A RS10265 Fasting blood glucose:Total cholesterol:LDL cholesterol
7 139415775 1 HIPK2 G C exonic synonymous SNV HIPK2:NM_001113239:exon2:c.C1059G:p.V353V,HIPK2:NM_022740:exon2:c.C1059G:p.V353V RS7456421 Gene expression of LOC389562 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height
7 143560609 2 TCAF1 C T exonic nonsynonymous SNV TCAF1:NM_001206938:exon3:c.G901A:p.V301I,TCAF1:NM_014719:exon3:c.G901A:p.V301I
7 148801658 2 ZNF425 C T exonic synonymous SNV ZNF425:NM_001001661:exon4:c.G1305A:p.Q435Q RS1137432 Comorbid depressive syndrome and alcohol dependence:Gene expression of ZNF425 (ENSG00000204947) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ZNF786 in normal prepouch ileum:Gene expression of ZNF425 in normal prepouch ileum
7 148851213 2 ZNF398 G A exonic synonymous SNV ZNF398:NM_170686:exon2:c.G201A:p.L67L RS917124 Serum creatinine:Gene expression of ZNF425 in peripheral blood monocytes:Gene expression of YBX2 in peripheral blood monocytes:Gene expression of ZNF786 in normal prepouch ileum
7 148963948 1 ZNF783 T C exonic synonymous SNV ZNF783:NM_001195220:exon3:c.T459C:p.S153S
7 148963953 1 ZNF783 T A exonic nonsynonymous SNV ZNF783:NM_001195220:exon3:c.T464A:p.L155Q
7 150765065 2 SLC4A2 T C exonic synonymous SNV SLC4A2:NM_001199693:exon7:c.T1044C:p.T348T,SLC4A2:NM_001199694:exon7:c.T1029C:p.T343T,SLC4A2:NM_001199692:exon8:c.T1071C:p.T357T,SLC4A2:NM_003040:exon8:c.T1071C:p.T357T
7 150768786 1 SLC4A2 G A exonic synonymous SNV SLC4A2:NM_001199693:exon14:c.G2175A:p.T725T,SLC4A2:NM_001199694:exon14:c.G2160A:p.T720T,SLC4A2:NM_001199692:exon15:c.G2202A:p.T734T,SLC4A2:NM_003040:exon15:c.G2202A:p.T734T RS2303937 HDL cholesterol:Height:Years of education:College completion
7 151064064 1 NUB1 C T exonic synonymous SNV NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y RS386956 Triglycerides change with statins:Lp-PLA2 mass:Gene expression of WDR86 in peripheral blood monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
7 151874498 1 KMT2C C T exonic synonymous SNV KMT2C:NM_170606:exon38:c.G8040A:p.Q2680Q RS10252263 Chronic kidney disease:Partial epilepsy:Aortic valve calcium:Obesity with early age of onset (age >2):Salmonella-induced pyroptosis
7 151949068 1 KMT2C C G exonic nonsynonymous SNV KMT2C:NM_170606:exon11:c.G1577C:p.R526P RS3735156 Chronic kidney disease:Body mass index (BMI):Obesity with early age of onset (age >2)
7 156469133 2 RNF32 C G exonic nonsynonymous SNV RNF32:NM_001184996:exon9:c.C873G:p.H291Q,RNF32:NM_001184997:exon9:c.C873G:p.H291Q,RNF32:NM_030936:exon9:c.C873G:p.H291Q RS2302147 Gene expression of C7orf13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Myopia:Refractive error
7 156469179 2 RNF32 C T exonic nonsynonymous SNV RNF32:NM_001184996:exon9:c.C919T:p.R307C,RNF32:NM_001184997:exon9:c.C919T:p.R307C,RNF32:NM_030936:exon9:c.C919T:p.R307C RS2302146 Gene expression of C7orf13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Refractive error:Gene expression of C7orf13 in normal prepouch ileum
7 156469190 2 RNF32 A G exonic synonymous SNV RNF32:NM_001184996:exon9:c.A930G:p.A310A,RNF32:NM_001184997:exon9:c.A930G:p.A310A,RNF32:NM_030936:exon9:c.A930G:p.A310A RS2302145 Gene expression of C7orf13 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C7orf13 [probe 223630_at] in lymphoblastoid cell lines:Fasting blood glucose:Refractive error
7 158672476 2 WDR60 C G exonic nonsynonymous SNV WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K RS2709859 Aortic valve calcium
7 158672619 1 WDR60 A G exonic nonsynonymous SNV WDR60:NM_001350914:exon5:c.A680G:p.Q227R,WDR60:NM_001350915:exon5:c.A301G:p.K101E,WDR60:NM_018051:exon5:c.A818G:p.Q273R RS2788478 Hip bone mineral density (BMD):Hip bone mineral density (BMD):Spine bone mineral density (BMD):Low trauma fracture:Schizophrenia:Premature ovarian failure:Gene expression of probeset 3034471 in osteoblasts:Gene expression of probeset 3034511 in lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Total cholesterol:Height:Gene expression of WDR60 in blood:Advanced age-related macular degeneration (geographic atrophy):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
8 618728 2 ERICH1 A G exonic synonymous SNV ERICH1:NM_001303100:exon5:c.T1128C:p.L376L,ERICH1:NM_207332:exon5:c.T1128C:p.L376L
8 2852951 2
8 6296550 2 MCPH1 G T exonic nonsynonymous SNV MCPH1:NM_001172574:exon6:c.G513T:p.R171S,MCPH1:NM_001322042:exon6:c.G513T:p.R171S,MCPH1:NM_001322043:exon6:c.G507T:p.R169S,MCPH1:NM_001322045:exon6:c.G411T:p.R137S,MCPH1:NM_024596:exon6:c.G513T:p.R171S RS2442513 Total cholesterol
8 6302183 2 MCPH1 G C exonic nonsynonymous SNV MCPH1:NM_001172575:exon7:c.G796C:p.D266H,MCPH1:NM_001172574:exon8:c.G940C:p.D314H,MCPH1:NM_001322042:exon8:c.G940C:p.D314H,MCPH1:NM_001322043:exon8:c.G934C:p.D312H,MCPH1:NM_001322045:exon8:c.G838C:p.D280H,MCPH1:NM_024596:exon8:c.G940C:p.D314H RS930557 Fasting blood glucose:Obesity with early age of onset (age >2)
8 6302418 2 MCPH1 A G exonic nonsynonymous SNV MCPH1:NM_001172575:exon7:c.A1031G:p.D344G,MCPH1:NM_001172574:exon8:c.A1175G:p.D392G,MCPH1:NM_001322042:exon8:c.A1175G:p.D392G,MCPH1:NM_001322043:exon8:c.A1169G:p.D390G,MCPH1:NM_001322045:exon8:c.A1073G:p.D358G,MCPH1:NM_024596:exon8:c.A1175G:p.D392G
8 8176221 2 PRAG1 C T exonic nonsynonymous SNV PRAG1:NM_001080826:exon7:c.G3664A:p.G1222S
8 8176554 2 PRAG1 C T exonic nonsynonymous SNV PRAG1:NM_001080826:exon6:c.G3331A:p.A1111T
8 8747894 2 MFHAS1 A G exonic nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T2675C:p.L892P RS429433 Hip bone mineral density (BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Birth weight
8 9577940 2 TNKS T C exonic synonymous SNV TNKS:NM_003747:exon12:c.T1806C:p.G602G
8 11683653 2 FDFT1 T C exonic synonymous SNV FDFT1:NM_001287756:exon2:c.T130C:p.L44L,FDFT1:NM_001287750:exon4:c.T808C:p.L270L,FDFT1:NM_001287751:exon4:c.T376C:p.L126L,FDFT1:NM_001287744:exon5:c.T439C:p.L147L,FDFT1:NM_001287747:exon5:c.T439C:p.L147L,FDFT1:NM_001287748:exon5:c.T439C:p.L147L,FDFT1:NM_001287749:exon5:c.T439C:p.L147L,FDFT1:NM_004462:exon5:c.T631C:p.L211L,FDFT1:NM_001287743:exon6:c.T631C:p.L211L,FDFT1:NM_001287745:exon6:c.T439C:p.L147L,FDFT1:NM_001287742:exon7:c.T631C:p.L211L
8 15838366 2
8 17796382 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S RS412750 Hip bone mineral density (BMD):Triglycerides:Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17796383 2 PCM1 C T exonic synonymous SNV PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N
8 17814915 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V RS208753 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of PCM1 in blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17918934 2 ASAH1 A G exonic nonsynonymous SNV ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A RS10103355 Serum creatinine:Adiponectin levels
8 18729817 2 PSD3 G A exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.C557T:p.T186M RS7016219 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:HDL cholesterol:Bipolar disorder:Obesity with early age of onset (age >2):Mitral annular calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
8 18729818 2 PSD3 T G exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.A556C:p.T186P RS7003060 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2):Mitral annular calcium
8 19316086 2 CSGALNACT1 G A exonic synonymous SNV CSGALNACT1:NM_001130518:exon5:c.C702T:p.H234H,CSGALNACT1:NM_018371:exon5:c.C702T:p.H234H RS12155539 Differential exon level expression of ChGn [probe 3126531] in peripheral blood mononuclear cells:Differential exon level expression of ChGn [probe 3126532] in peripheral blood mononuclear cells:Differential exon level expression of ChGn [probe 3126531] in brain cortex:Differential exon level expression of ChGn [probe 3126532] in brain cortex:Cystatin C in serum:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease
8 19362768 2 CSGALNACT1 C T exonic nonsynonymous SNV CSGALNACT1:NM_001130518:exon4:c.G578A:p.S193N,CSGALNACT1:NM_018371:exon4:c.G578A:p.S193N RS7017776 Premature ovarian failure:LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Paternal transmission distortion:Obesity with early age of onset (age >2)
8 21955116 2 FAM160B2 C T exonic synonymous SNV FAM160B2:NM_022749:exon4:c.C387T:p.V129V
8 21984650 2 HR A G exonic synonymous SNV HR:NM_005144:exon3:c.T1305C:p.F435F,HR:NM_018411:exon3:c.T1305C:p.F435F
8 21984945 2 HR C T exonic nonsynonymous SNV HR:NM_005144:exon3:c.G1010A:p.G337D,HR:NM_018411:exon3:c.G1010A:p.G337D
8 22105502 2 POLR3D T C exonic synonymous SNV POLR3D:NM_001722:exon4:c.T342C:p.A114A
8 22428658 2 SORBS3 T C exonic nonsynonymous SNV SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T RS2449331 Autism with low IQ:Obesity with early age of onset (age >2)
8 23152334 2 R3HCC1 A G exonic synonymous SNV R3HCC1:NM_001136108:exon7:c.A1149G:p.T383T,R3HCC1:NM_001301650:exon8:c.A1023G:p.T341T
8 25203022 2 DOCK5 A G exonic synonymous SNV DOCK5:NM_024940:exon26:c.A2649G:p.T883T
8 25323777 2 CDCA2 T C exonic synonymous SNV CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N
8 26481771 2 DPYSL2 T C exonic synonymous SNV DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S
8 27667969 2 PBK C G exonic synonymous SNV PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A RS2294092 2 hour glucose:Triglycerides change with statins
8 28304769 2 FBXO16 C T exonic nonsynonymous SNV FBXO16:NM_001258211:exon6:c.G726A:p.M242I,FBXO16:NM_172366:exon7:c.G762A:p.M254I
8 29197672 2 DUSP4 A G exonic synonymous SNV DUSP4:NM_001394:exon2:c.T522C:p.S174S,DUSP4:NM_057158:exon3:c.T249C:p.S83S
8 29927300 2 SARAF C G exonic synonymous SNV SARAF:NM_001284239:exon2:c.G42C:p.A14A,SARAF:NM_016127:exon3:c.G558C:p.A186A
8 29927321 2 SARAF A G exonic synonymous SNV SARAF:NM_001284239:exon2:c.T21C:p.I7I,SARAF:NM_016127:exon3:c.T537C:p.I179I RS6468094 Salmonella-induced pyroptosis
8 29989564 2 MBOAT4 A G exonic synonymous SNV MBOAT4:NM_001100916:exon3:c.T1203C:p.S401S RS7844812 LDL cholesterol:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Gene expression of LEPROTL1 (ENSG00000104660) in dendritic cells treated with Mycobacterium tuberculosis
8 30608976 2 UBXN8 C T exonic unknown UNKNOWN
8 37985897 2 ASH2L A G exonic synonymous SNV ASH2L:NM_001282272:exon10:c.A837G:p.K279K,ASH2L:NM_001105214:exon11:c.A972G:p.K324K,ASH2L:NM_001261832:exon11:c.A972G:p.K324K,ASH2L:NM_004674:exon11:c.A1254G:p.K418K RS2843740 Gene expression of STAR in CHB lymphoblastoid cell lines:Chronic kidney disease
8 40011079 2 C8orf4 G A exonic nonsynonymous SNV C8orf4:NM_020130:exon1:c.G28A:p.V10I
8 43054553 2 HGSNAT T C exonic synonymous SNV HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y
8 48885436 2 MCM4 T A exonic nonsynonymous SNV MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M RS762679 Serum creatinine:Waist hip ratio:Infant head circumference:Obesity with early age of onset (age >2)
8 49021256 2
8 52733050 1 PCMTD1 T A exonic nonsynonymous SNV PCMTD1:NM_001286782:exon4:c.A707T:p.N236I,PCMTD1:NM_001286783:exon6:c.A407T:p.N136I,PCMTD1:NM_052937:exon6:c.A935T:p.N312I RS12335014 Lp-PLA2 mass:Total cholesterol:College completion:Years of education
8 52746153 1 PCMTD1 C T exonic synonymous SNV PCMTD1:NM_001286782:exon2:c.G279A:p.V93V,PCMTD1:NM_052937:exon4:c.G507A:p.V169V RS9298462 Total cholesterol:LDL cholesterol:Microalbuminuria:Birth weight:Years of education:College completion:Gene expression of PCMTD1 in normal prepouch ileum
8 53586706 2 RB1CC1 A G exonic nonsynonymous SNV RB1CC1:NM_001083617:exon7:c.T701C:p.M234T,RB1CC1:NM_014781:exon7:c.T701C:p.M234T RS17337252 Prostate cancer
8 56686224 2 TGS1 T C exonic nonsynonymous SNV TGS1:NM_024831:exon1:c.T47C:p.I16T RS1818 Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Gene expression of LYN in blood:Gene expression of TGS1 in blood:Aortic valve calcium
8 74527996 2 STAU2 C T exonic nonsynonymous SNV STAU2:NM_001164383:exon3:c.G76A:p.V26M,STAU2:NM_001164385:exon5:c.G478A:p.V160M,STAU2:NM_001164382:exon6:c.G280A:p.V94M,STAU2:NM_001164384:exon6:c.G496A:p.V166M,STAU2:NM_001164381:exon7:c.G496A:p.V166M,STAU2:NM_014393:exon7:c.G496A:p.V166M,STAU2:NM_001164380:exon8:c.G592A:p.V198M RS949493 Rheumatoid arthritis:Differential exon level expression of STAU2 [probe 3140703] in brain cortex:Triglycerides change with statins:Chronic kidney disease:Lp-PLA2 mass:Asthma:Urinary albumin-to-creatinine ratio:PROP taste detection threshold
8 74917084 2 LY96 A G exonic nonsynonymous SNV LY96:NM_015364:exon2:c.A166G:p.R56G RS6472812 Total cholesterol:LDL cholesterol:Rheumatoid arthritis
8 75262798 2 GDAP1 G C exonic synonymous SNV GDAP1:NM_018972:exon1:c.G102C:p.S34S
8 77895865 2 PEX2 A G exonic nonsynonymous SNV PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172086:exon5:c.T550C:p.C184R RS10087163 Fasting blood glucose:Comorbid depressive syndrome and alcohol dependence
8 79610710 2 ZC2HC1A A G exonic synonymous SNV ZC2HC1A:NM_016010:exon7:c.A666G:p.L222L RS1054283 Gene expression of CGI-62 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 234357_at in lymphoblastoid cell lines:Serum creatinine:Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy)
8 94746698 1 RBM12B G T exonic synonymous SNV RBM12B:NM_203390:exon3:c.C1941A:p.P647P
8 95419698 1 RAD54B A G exonic synonymous SNV RAD54B:NM_001205263:exon3:c.T198C:p.N66N,RAD54B:NM_012415:exon5:c.T750C:p.N250N RS2291439 LDL cholesterol:Total cholesterol:Obesity with early age of onset (age >2):Parkinson's disease
8 98954012 2 MATN2 T C exonic synonymous SNV MATN2:NM_001317748:exon4:c.T720C:p.H240H,MATN2:NM_002380:exon4:c.T720C:p.H240H,MATN2:NM_030583:exon4:c.T720C:p.H240H
8 98991221 2 MATN2 A G exonic nonsynonymous SNV MATN2:NM_001317748:exon6:c.A1066G:p.K356E,MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E
8 100844758 1 VPS13B T C exonic synonymous SNV VPS13B:NM_017890:exon52:c.T9567C:p.S3189S,VPS13B:NM_152564:exon52:c.T9492C:p.S3164S
8 101153024 2 FBXO43 G A exonic synonymous SNV FBXO43:NM_001029860:exon2:c.C1458T:p.I486I RS1460934 2 hour glucose:Triglycerides:Height:Diastolic blood pressure (DBP):Gene expression of SPAG1 in normal prepouch ileum:Birth weight
8 103663912 1 KLF10 T G exonic synonymous SNV KLF10:NM_001032282:exon3:c.A615C:p.T205T,KLF10:NM_005655:exon3:c.A648C:p.T216T
8 104394744 2 CTHRC1 T C exonic synonymous SNV CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G RS3098233 LDL cholesterol:Gene expression of WDSOF1 [probe 3110341] in peripheral blood mononuclear cells:Premature ovarian failure
8 107754473 1 OXR1 G A exonic synonymous SNV OXR1:NM_001198535:exon4:c.G369A:p.E123E,OXR1:NM_001198534:exon5:c.G450A:p.E150E,OXR1:NM_181354:exon12:c.G2238A:p.E746E,OXR1:NM_001198532:exon14:c.G2343A:p.E781E,OXR1:NM_018002:exon14:c.G2259A:p.E753E,OXR1:NM_001198533:exon15:c.G2340A:p.E780E RS1681904 Bipolar disorder
8 120803637 1 TAF2 C G exonic nonsynonymous SNV TAF2:NM_003184:exon11:c.G1340C:p.S447T RS9297605 Abnormal Involuntary Movement Scale:Obesity with early age of onset (age >2)
8 120847188 1 DSCC1 T C exonic nonsynonymous SNV DSCC1:NM_024094:exon9:c.A1127G:p.H376R RS1055130 Differential exon level expression of TAF2 [probe 3150697] in brain cortex:Autism:Gene expression of DEPDC6 in blood:Sporadic Creutzfeldt-Jakob disease:Tourette's syndrome:Obesity with early age of onset (age >2)
8 121061879 2 DEPTOR G A exonic nonsynonymous SNV DEPTOR:NM_001283012:exon7:c.G863A:p.S288N,DEPTOR:NM_022783:exon9:c.G1166A:p.S389N RS4871827 Schizophrenia:Height:Obesity with early age of onset (age >2)
8 123966159 2 ZHX2 G C exonic synonymous SNV ZHX2:NM_014943:exon3:c.G2409C:p.A803A RS3802265 Cystatin C in serum:Triglycerides
8 124440174 1 WDYHV1 A G exonic nonsynonymous SNV WDYHV1:NM_018024:exon2:c.A94G:p.I32V RS6999234 Gene expression of FLJ10204 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe 219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of NP_060494.1 in blood cells in Celiac disease:Differential exon level expression of C8orf32 [probe 3114248] in peripheral blood mononuclear cells:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Gene expression of C8orf32 [probe ILMN_574] in osteoblasts treated with PGE2:Gene expression of C8orf32 [probe ILMN_574] in untreated osteoblasts:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts treated with dexamethasone:Rheumatoid arthritis:Gene expression of WDYHV1 in blood:Adiponectin levels
8 124448736 1 WDYHV1 A G exonic nonsynonymous SNV WDYHV1:NM_001283024:exon4:c.A98G:p.N33S,WDYHV1:NM_018024:exon4:c.A278G:p.N93S,WDYHV1:NM_001283027:exon5:c.A74G:p.N25S RS7014678 Gene expression of FLJ10204 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe 219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of NP_060494.1 in blood cells in Celiac disease:Differential exon level expression of C8orf32 [probe 3114248] in peripheral blood mononuclear cells:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+ lymphocytes:Height:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts treated with BMP2:Rheumatoid arthritis:Gene expression of WDYHV1 in blood:Adiponectin levels
8 124448804 1 WDYHV1 T A exonic nonsynonymous SNV WDYHV1:NM_001283024:exon4:c.T166A:p.F56I,WDYHV1:NM_018024:exon4:c.T346A:p.F116I,WDYHV1:NM_001283027:exon5:c.T142A:p.F48I RS6470147 Gene expression of FLJ10204 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides change with statins:Gene expression of C8orf32 in Temporal cortex:LDL cholesterol:Height:Adiponectin levels
8 124449466 1 WDYHV1 C T exonic nonsynonymous SNV WDYHV1:NM_001283024:exon5:c.C220T:p.R74C,WDYHV1:NM_018024:exon5:c.C400T:p.R134C,WDYHV1:NM_001283027:exon6:c.C196T:p.R66C RS3824250 Gene expression of FLJ10204 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of WDYHV1 [probe 219060_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene expression of NP_060494.1 in blood cells in Celiac disease:Differential exon level expression of C8orf32 [probe 3114248] in peripheral blood mononuclear cells:Gene expression of C8orf32 [probe ILMN_574] in osteoblasts:Triglycerides change with statins:Gene expression of C8orf32 in Temporal cortex:LDL cholesterol:Gene expression of C8orf32 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Rheumatoid arthritis:Gene expression of WDYHV1 in blood:Adiponectin levels
8 124824826 2 FAM91A1 G A exonic nonsynonymous SNV FAM91A1:NM_001317917:exon24:c.G1673A:p.C558Y,FAM91A1:NM_144963:exon24:c.G2399A:p.C800Y
8 141551407 1 AGO2 G A exonic synonymous SNV AGO2:NM_001164623:exon15:c.C1890T:p.R630R,AGO2:NM_012154:exon15:c.C1890T:p.R630R
8 141559358 1 AGO2 G A exonic synonymous SNV AGO2:NM_001164623:exon12:c.C1443T:p.A481A,AGO2:NM_012154:exon12:c.C1443T:p.A481A RS2292781 LDL cholesterol change with statins:HDL cholesterol:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
8 141566311 1 AGO2 C T exonic synonymous SNV AGO2:NM_001164623:exon9:c.G1101A:p.A367A,AGO2:NM_012154:exon9:c.G1101A:p.A367A RS2271738 Differential exon level expression of EIF2C2 [probe 3156243] in brain cortex:Bipolar disorder:Bipolar disorder and schizophrenia:Advanced age-related macular degeneration (geographic atrophy):Hypertension (early onset hypertension):Advanced age-related macular degeneration
8 141568622 1 AGO2 G A exonic synonymous SNV AGO2:NM_001164623:exon7:c.C840T:p.R280R,AGO2:NM_012154:exon7:c.C840T:p.R280R RS2292778 Simpson-Angus Scale:LDL cholesterol change with statins:Total cholesterol change with statins:Bipolar disorder:Height:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Infant head circumference
8 143808951 1 THEM6 C T exonic synonymous SNV THEM6:NM_016647:exon1:c.C187T:p.L63L RS2585138 HDL cholesterol:Methylation levels at chr8:143759868-143759918 [hg18 coord, probe cg13446199] in Cerebellum:Height:Gene expression of C8orf55 (probeID ILMN_1777740) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of C8orf55 (probeID ILMN_1777740) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of PSCA in normal prepouch ileum:College completion
8 143809193 1 THEM6 C T exonic synonymous SNV THEM6:NM_016647:exon1:c.C429T:p.G143G
8 144332012 2 ZFP41 T C exonic startloss ZFP41:NM_001271156:exon2:c.T2C:p.M2del,ZFP41:NM_173832:exon2:c.T2C:p.M2del
8 144332082 2 ZFP41 T C exonic synonymous SNV ZFP41:NM_001271156:exon2:c.T72C:p.S24S,ZFP41:NM_173832:exon2:c.T72C:p.S24S
8 144351632 2 GLI4 A G exonic synonymous SNV GLI4:NM_138465:exon2:c.A66G:p.P22P
8 144378868 2 ZNF696 A G exonic synonymous SNV ZNF696:NM_030895:exon3:c.A1023G:p.R341R
8 144649601 2 MROH6 A G exonic synonymous SNV MROH6:NM_001100878:exon14:c.T1968C:p.A656A
8 144671685 2 EEF1D G C exonic nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E
8 144681777 1 TIGD5 G T exonic nonsynonymous SNV TIGD5:NM_032862:exon1:c.G1704T:p.M568I RS10282929 Gene expression of FLJ12150 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of PP3856 in CEU-CHB-JPT lymphoblastoid cell lines:Complex transcript isoform variation of NAPRT1 in lymphoblastoid cell lines:Methylation levels at chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Cerebellum:Methylation levels at chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Caudal pons:Gene expression of NAPRT1 in Temporal cortex:Gene expression of NAPRT1 in Caudal pons:Gene expression of NAPRT1 in Cerebellum:Gene expression of NAPRT1 in Frontal cortex:NAPRT1 gene expression:Gene expression of NAPRT1 (probeID ILMN_1710752) in whole blood:Birth weight:Gene expression of LOC286076 (ENSG00000181097) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of NAPRT1 (probeID ILMN_1710752) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NAPRT1 (probeID ILMN_1710752) in temporal cortex in Alzheimer's disease cases and controls
8 144732363 2 ZNF623 T C exonic synonymous SNV ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N
8 144732418 2 ZNF623 A G exonic nonsynonymous SNV ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D
8 144732450 1 ZNF623 G A exonic synonymous SNV ZNF623:NM_014789:exon1:c.G408A:p.S136S,ZNF623:NM_001082480:exon2:c.G288A:p.S96S,ZNF623:NM_001261843:exon2:c.G288A:p.S96S RS3750204 Irritible bowel syndrome:Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Gene expression of NGB in peripheral blood monocytes:Gene expression of NAPRT1 in peripheral blood monocytes:Gene expression of STON1 in peripheral blood monocytes:Gene expression of FXYD2 in peripheral blood monocytes:Gene expression of DGKD in peripheral blood monocytes:Gene expression of NAPRT1 in blood:Gene expression of TIGD5 in blood:Birth weight
8 144776109 2 ZNF707 A G exonic synonymous SNV ZNF707:NM_001288808:exon4:c.A417G:p.S139S,ZNF707:NM_001288809:exon4:c.A417G:p.S139S,ZNF707:NM_001100599:exon5:c.A525G:p.S175S,ZNF707:NM_001100598:exon6:c.A525G:p.S175S,ZNF707:NM_001288806:exon6:c.A525G:p.S175S,ZNF707:NM_001288807:exon6:c.A306G:p.S102S,ZNF707:NM_173831:exon7:c.A525G:p.S175S,ZNF707:NM_001288805:exon8:c.A525G:p.S175S
8 144809804 2 FAM83H G A exonic synonymous SNV FAM83H:NM_198488:exon5:c.C1827T:p.Y609Y
8 144874554 2 SCRIB T C exonic synonymous SNV SCRIB:NM_015356:exon32:c.A4350G:p.P1450P,SCRIB:NM_182706:exon32:c.A4350G:p.P1450P
8 144885580 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F
8 144889172 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T RS10866915 Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis
8 144890873 2 SCRIB A T exonic nonsynonymous SNV SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E
8 144894496 2 SCRIB G A exonic synonymous SNV SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T RS4875060 Hip bone mineral density (BMD):Irritible bowel syndrome:Premature ovarian failure:Gene expression of ZNF707 [probe ILMN_20149] in osteoblasts treated with pge-2:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
8 144940290 1 EPPK1 C G exonic nonsynonymous SNV EPPK1:NM_031308:exon2:c.G7132C:p.D2378H
8 144940300 1 EPPK1 G A exonic synonymous SNV EPPK1:NM_031308:exon2:c.C7122T:p.R2374R
8 145066886 2 GRINA A G exonic synonymous SNV GRINA:NM_000837:exon7:c.A993G:p.L331L,GRINA:NM_001009184:exon7:c.A993G:p.L331L
8 145150101 2 CYC1 T G exonic synonymous SNV CYC1:NM_001916:exon1:c.T99G:p.R33R
8 145150832 2 CYC1 A G exonic nonsynonymous SNV CYC1:NM_001916:exon2:c.A226G:p.M76V
8 145158503 2 SHARPIN G T exonic synonymous SNV SHARPIN:NM_030974:exon1:c.C154A:p.R52R RS11136254 Gene expression change of GPAA1 (ENSG00000197858) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of KIAA1875 (ENSG00000179698) in dendritic cells after treatment with Mycobacterium tuberculosis
8 145160646 2 MAF1 T C exonic synonymous SNV MAF1:NM_032272:exon2:c.T60C:p.T20T
8 145161823 2 MAF1 G A exonic nonsynonymous SNV MAF1:NM_032272:exon7:c.G706A:p.G236R
8 145223288 2 MROH1 C T exonic nonsynonymous SNV MROH1:NM_001099281:exon3:c.C113T:p.A38V,MROH1:NM_001288814:exon3:c.C113T:p.A38V,MROH1:NM_001099280:exon4:c.C113T:p.A38V,MROH1:NM_032450:exon4:c.C113T:p.A38V
8 145603114 1 ADCK5 A C exonic nonsynonymous SNV ADCK5:NM_174922:exon2:c.A51C:p.R17S RS6599528 Differential exon level expression of CPSF1 [probe 3158522] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158556] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158566] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158564] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158557] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158550] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158530] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158563] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158524] in brain cortex:Differential exon level expression of CPSF1 [probe 3158524] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158519] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158552] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158549] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158548] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158534] in peripheral blood mononuclear cells:Gene expression of CPSF1 [probe 3158516] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158565] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158518] in peripheral blood mononuclear cells:Gene expression of CPSF1 [probe 3158516] in brain cortex:Differential exon level expression of CPSF1 [probe 3158549] in brain cortex:Differential exon level expression of CPSF1 [probe 3158551] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158544] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158526] in peripheral blood mononuclear cells:Differential exon level expression of CPSF1 [probe 3158562] in peripheral blood mononuclear cells:Gene expression of CPSF1 in CD4+ lymphocytes:Gene expression of ADCK5///CPSF1///hsa-mir in blood:Gene expression of CPSF1 [probeset 33132_at] in sputum:Gene expression of CPSF1 [probeset 201639_s_at] in sputum:Variant Creutzfeldt-Jakob disease:Gene expression of CPSF1 in liver:Advanced age-related macular degeneration (geographic atrophy):Gene expression of CPSF1 (probeID ILMN_1654545) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CPSF1 (probeID ILMN_1654545) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of CPSF1 in normal prepouch ileum
8 145623963 1 CPSF1 G A exonic synonymous SNV CPSF1:NM_013291:exon18:c.C1704T:p.D568D
8 145689915 2 CYHR1 G A exonic synonymous SNV CYHR1:NM_138496:exon2:c.C174T:p.H58H,CYHR1:NM_001129888:exon3:c.C174T:p.H58H,CYHR1:NM_032687:exon3:c.C174T:p.H58H
8 145692385 2 KIFC2 C T exonic synonymous SNV KIFC2:NM_145754:exon3:c.C222T:p.G74G
8 145737636 2 RECQL4 A G exonic synonymous SNV RECQL4:NM_004260:exon19:c.T3127C:p.L1043L
8 145737816 1 RECQL4 C T exonic nonsynonymous SNV RECQL4:NM_004260:exon18:c.G3014A:p.R1005Q
8 145742514 2 RECQL4 A G exonic nonsynonymous SNV RECQL4:NM_004260:exon4:c.T274C:p.S92P
8 145745182 2 LRRC14 T C exonic synonymous SNV LRRC14:NM_014665:exon2:c.T73C:p.L25L,LRRC14:NM_001272036:exon3:c.T73C:p.L25L
8 146067054 1 ZNF7 G A exonic nonsynonymous SNV ZNF7:NM_001349805:exon3:c.G274A:p.G92R,ZNF7:NM_001282797:exon4:c.G274A:p.G92R,ZNF7:NM_001349809:exon4:c.G625A:p.G209R,ZNF7:NM_001282795:exon5:c.G595A:p.G199R,ZNF7:NM_001349806:exon5:c.G613A:p.G205R,ZNF7:NM_001349807:exon5:c.G559A:p.G187R,ZNF7:NM_001349808:exon5:c.G610A:p.G204R,ZNF7:NM_003416:exon5:c.G562A:p.G188R RS1735169 Gene expression of RPL8 in CEU lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid arthritis:LDL cholesterol:Gene expression of RPL8 [probe 3159040] in peripheral blood mononuclear cells:Differential exon level expression of RPL8 [probe 3159044] in peripheral blood mononuclear cells:Fasting insulin:Cystatin C in serum:Methylation levels at chr8:146024470-146024520 [hg18 coord, probe cg20845050] in Temporal cortex:Triglycerides:HDL cholesterol:Gene expression of ZNF34 [probe ILMN_7366] in osteoblasts treated with PGE2:Gene expression of COMMD5 in blood:Gene expression of ZNF7 in blood:Gene expression of ENST00000262584 in blood:Gene expression of ZNF34 in blood:Gene expression of ZNF517///ENST00000377296 in blood:Bipolar disorder:Gene expression of ZNF7 (probeID ILMN_2137066) in temporal cortex in Alzheimer's disease cases and controls:Salmonella-induced pyroptosis:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene expression of ZNF7 (probeID ILMN_2137066) in temporal cortex in Alzheimer's disease cases:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in non-Alzheimer's disease samples:Gene expression of RPL8 (probeID ILMN_1811433) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases:Gene expression of RPL8 (probeID ILMN_1811433) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in temporal cortex in Progressive Supranuclear Palsy cases
8 146115367 2 ZNF250 A G exonic synonymous SNV ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G
8 148631000 1
9 17011 2 WASHC1 T C exonic synonymous SNV WASHC1:NM_182905:exon7:c.A837G:p.P279P
9 742342 2 KANK1 A G exonic synonymous SNV KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G
9 5968416 2 KIAA2026 A G exonic synonymous SNV KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L RS3739649 Height:Birth weight
9 13112116 2 MPDZ A G exonic synonymous SNV MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I,MPDZ:NM_001330637:exon43:c.T5631C:p.I1877I
9 14775853 2 FREM1 A G exonic synonymous SNV FREM1:NM_001177704:exon2:c.T399C:p.D133D,FREM1:NM_144966:exon26:c.T4791C:p.D1597D RS1032474 Advanced age-related macular degeneration (geographic atrophy):Migraine
9 14775859 2 FREM1 G A exonic synonymous SNV FREM1:NM_001177704:exon2:c.C393T:p.A131A,FREM1:NM_144966:exon26:c.C4785T:p.A1595A RS10733289 Fasting blood glucose:Urinary albumin-to-creatinine ratio:Obesity (body mass index (BMI)):Body mass index (BMI):College completion:Years of education
9 17394996 2 CNTLN T C exonic synonymous SNV CNTLN:NM_017738:exon15:c.T2544C:p.H848H RS3739489 Fasting blood glucose
9 20866974 2 FOCAD C G exonic nonsynonymous SNV FOCAD:NM_017794:exon20:c.C2153G:p.T718S
9 26116193 2 LOC100506422 T C exonic synonymous SNV LOC100506422:NM_001004352:exon6:c.T369C:p.I123I
9 26886129 1 CAAP1 C T exonic nonsynonymous SNV CAAP1:NM_001167575:exon3:c.G127A:p.E43K,CAAP1:NM_024828:exon3:c.G562A:p.E188K
9 33264540 2 BAG1 C G exonic nonsynonymous SNV BAG1:NM_004323:exon1:c.G133C:p.G45R
9 33927899 2 UBAP2 G A exonic nonsynonymous SNV UBAP2:NM_001282529:exon16:c.C1466T:p.A489V,UBAP2:NM_018449:exon20:c.C2267T:p.A756V
9 34372783 2 KIAA1161 G C exonic unknown UNKNOWN
9 34372873 2 KIAA1161 C G exonic unknown UNKNOWN
9 35107858 2 FAM214B C T exonic synonymous SNV FAM214B:NM_001317991:exon3:c.G414A:p.S138S,FAM214B:NM_025182:exon3:c.G414A:p.S138S
9 35546735 2 RUSC2 A G exonic nonsynonymous SNV RUSC2:NM_001135999:exon2:c.A217G:p.T73A,RUSC2:NM_014806:exon2:c.A217G:p.T73A
9 35606884 2 TESK1 G A exonic nonsynonymous SNV TESK1:NM_001318230:exon4:c.G44A:p.C15Y
9 36674842 2 MELK C T exonic synonymous SNV MELK:NM_001256692:exon14:c.C1293T:p.N431N,MELK:NM_001256688:exon15:c.C1473T:p.N491N,MELK:NM_001256690:exon15:c.C1473T:p.N491N,MELK:NM_001256691:exon15:c.C1446T:p.N482N,MELK:NM_001256693:exon15:c.C1104T:p.N368N,MELK:NM_001256685:exon16:c.C1563T:p.N521N,MELK:NM_001256687:exon16:c.C1542T:p.N514N,MELK:NM_001256689:exon16:c.C1590T:p.N530N,MELK:NM_014791:exon17:c.C1686T:p.N562N RS2274473 Total cholesterol:Diastolic blood pressure (DBP):Infant head circumference
9 37441808 2 ZBTB5 A G exonic synonymous SNV ZBTB5:NM_014872:exon2:c.T741C:p.D247D
9 37503087 1 POLR1E G A exonic nonsynonymous SNV POLR1E:NM_022490:exon12:c.G1148A:p.R383K,POLR1E:NM_001282766:exon13:c.G938A:p.R313K RS10814571 Gene expression of POLR1E [probe 218997_at] in lymphoblastoid cell lines:Hip bone mineral density (BMD):Longstanding arthritis:Schizophrenia:Differential exon level expression of POLR1E [probe 3168947] in brain cortex:Differential exon level expression of POLR1E [probe 3168947] in peripheral blood mononuclear cells:HOMA-B:Gene expression of POLR1E in normal prepouch ileum:Maternal transmission distortion
9 37503124 2 POLR1E G A exonic synonymous SNV POLR1E:NM_022490:exon12:c.G1185A:p.K395K,POLR1E:NM_001282766:exon13:c.G975A:p.K325K
9 38068532 2 SHB A G exonic synonymous SNV SHB:NM_003028:exon1:c.T111C:p.P37P
9 38395940 2 ALDH1B1 T C exonic synonymous SNV ALDH1B1:NM_000692:exon2:c.T195C:p.I65I
9 38396502 2 ALDH1B1 G A exonic nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G757A:p.V253M RS4878199 Abnormal Involuntary Movement Scale:Aortic valve calcium
9 43885012 2 CNTNAP3B A G exonic nonsynonymous SNV CNTNAP3B:NM_001201380:exon15:c.A2305G:p.T769A
9 49022700 2
9 71650752 2 FXN A G exonic synonymous SNV FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P
9 72897434 2 SMC5 G A exonic nonsynonymous SNV SMC5:NM_015110:exon7:c.G916A:p.V306I RS1180116 Longstanding arthritis:Fasting blood glucose:LDL cholesterol:Asthma:Alzheimer's disease:Urinary albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure (SBP):Years of education:Infant head circumference:Acute lung injury following major trauma:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
9 84267147 2 TLE1 T C exonic synonymous SNV TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E RS2228173 Years of education
9 86278817 2 UBQLN1 C A exonic synonymous SNV UBQLN1:NM_053067:exon9:c.G1506T:p.L502L,UBQLN1:NM_013438:exon10:c.G1590T:p.L530L RS7866234 HDL cholesterol:College completion
9 86284178 2 UBQLN1 C A exonic synonymous SNV UBQLN1:NM_013438:exon7:c.G1170T:p.L390L,UBQLN1:NM_053067:exon7:c.G1170T:p.L390L RS1044175 PROP taste detection threshold
9 86495335 1 KIF27 C T exonic synonymous SNV KIF27:NM_001271928:exon11:c.G2520A:p.E840E,KIF27:NM_017576:exon11:c.G2520A:p.E840E
9 86498846 1 KIF27 A G exonic nonsynonymous SNV KIF27:NM_001271927:exon10:c.T2327C:p.I776T,KIF27:NM_001271928:exon10:c.T2327C:p.I776T,KIF27:NM_017576:exon10:c.T2327C:p.I776T
9 86498848 1 KIF27 C T exonic synonymous SNV KIF27:NM_001271927:exon10:c.G2325A:p.L775L,KIF27:NM_001271928:exon10:c.G2325A:p.L775L,KIF27:NM_017576:exon10:c.G2325A:p.L775L
9 88694179 1 GOLM1 G T exonic synonymous SNV GOLM1:NM_016548:exon2:c.C57A:p.A19A,GOLM1:NM_177937:exon2:c.C57A:p.A19A
9 88959938 2 ZCCHC6 C T exonic synonymous SNV ZCCHC6:NM_001185059:exon5:c.G951A:p.L317L,ZCCHC6:NM_001185074:exon5:c.G951A:p.L317L,ZCCHC6:NM_024617:exon5:c.G951A:p.L317L RS791323 Asthma:Height
9 95887320 2 NINJ1 G T exonic nonsynonymous SNV NINJ1:NM_004148:exon3:c.C329A:p.A110D RS2275848 Gene expression of C9orf89 in CHB-JPT lymphoblastoid cell lines:Gene expression of NINJ1 probe [GI_31543289-S] in brain cortex with no Alzheimer's interaction:HOMA-IR:Fasting insulin:Gene expression of NINJ1 in blood:Age at death with kuru exposure:Extreme obesity with early age of onset
9 96055063 1 WNK2 C T exonic synonymous SNV WNK2:NM_006648:exon22:c.C5316T:p.D1772D,WNK2:NM_001282394:exon23:c.C5427T:p.D1809D
9 96278474 1 FAM120A C T exonic synonymous SNV FAM120A:NM_001286722:exon7:c.C1338T:p.H446H,FAM120A:NM_001286723:exon7:c.C1341T:p.H447H,FAM120A:NM_001286724:exon7:c.C1341T:p.H447H,FAM120A:NM_014612:exon7:c.C1341T:p.H447H
9 98209594 1 PTCH1 G A exonic nonsynonymous SNV PTCH1:NM_000264:exon23:c.C3944T:p.P1315L,PTCH1:NM_001083602:exon23:c.C3746T:p.P1249L,PTCH1:NM_001083603:exon23:c.C3941T:p.P1314L,PTCH1:NM_001083604:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083605:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083606:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083607:exon23:c.C3491T:p.P1164L RS357564 Height
9 100388197 1 TSTD2 C T exonic nonsynonymous SNV TSTD2:NM_139246:exon3:c.G248A:p.R83Q RS2773347 LDL cholesterol:Serum creatinine:Gene expression of TMOD1 in CD4+ lymphocytes:Height:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy):Tetrology of fallot
9 100971348 1 TBC1D2 T C exonic synonymous SNV TBC1D2:NM_001267572:exon3:c.A372G:p.A124A,TBC1D2:NM_001267571:exon9:c.A1752G:p.A584A,TBC1D2:NM_018421:exon9:c.A1752G:p.A584A
9 107591272 1 ABCA1 G T exonic synonymous SNV ABCA1:NM_005502:exon15:c.C2040A:p.I680I RS2853579 Cystatin C in serum:Microalbuminuria:Parkinson's disease:Adiponectin levels:Aortic valve calcium:Myopia (severe myopia)
9 107620867 1 ABCA1 C T exonic nonsynonymous SNV ABCA1:NM_005502:exon7:c.G656A:p.R219K RS2230806 Eye color:Neuroblastoma (brain cancer):Coronary artery disease (CAD)
9 111653574 1 ELP1 C G exonic synonymous SNV ELP1:NM_001330749:exon26:c.G2022C:p.L674L,ELP1:NM_001318360:exon28:c.G2727C:p.L909L,ELP1:NM_003640:exon28:c.G3069C:p.L1023L RS1063110 HDL cholesterol change with statins:Total cholesterol:LDL cholesterol:Triglycerides:Height:Body mass index (BMI):Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years of education
9 111727670 1 CTNNAL1 C G exonic nonsynonymous SNV CTNNAL1:NM_001286974:exon11:c.G1579C:p.E527Q,CTNNAL1:NM_003798:exon11:c.G1579C:p.E527Q RS7021366 Tardive dyskinesia:HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of AMOTL2 in peripheral blood monocytes:LDL cholesterol:Triglycerides:Total cholesterol:Height:Waist hip ratio:Microalbuminuria:Parkinson's disease
9 111755008 1 CTNNAL1 C T exonic synonymous SNV CTNNAL1:NM_001286974:exon3:c.G423A:p.V141V,CTNNAL1:NM_003798:exon3:c.G423A:p.V141V RS2297581 HOMA-B:Total cholesterol change with statins:HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Height:Waist hip ratio:Microalbuminuria:Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease
9 111881856 1 TMEM245 T C exonic nonsynonymous SNV TMEM245:NM_032012:exon1:c.A338G:p.H113R
9 114694486 2 UGCG A G exonic synonymous SNV UGCG:NM_003358:exon8:c.A861G:p.T287T RS7850023 HDL cholesterol:Total cholesterol:HDL cholesterol:Height:Mitral annular calcium
9 114804173 1 SUSD1 G A exonic synonymous SNV SUSD1:NM_022486:exon16:c.C2217T:p.L739L RS3849117 Total cholesterol:Waist hip ratio:Refractive error
9 115567184 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon2:c.T285C:p.V95V RS1891402 Body mass index (BMI):Obesity (body mass index (BMI)):Parkinson's disease
9 115580008 2 SNX30 G C exonic synonymous SNV SNX30:NM_001012994:exon3:c.G372C:p.L124L RS10117709 LDL cholesterol:Parkinson's disease:Adiponectin levels:Obesity with early age of onset (age >2):Mitral annular calcium
9 115600848 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon6:c.T885C:p.A295A
9 116044998 1 PRPF4 A G exonic synonymous SNV PRPF4:NM_001244926:exon4:c.A465G:p.K155K,PRPF4:NM_004697:exon4:c.A468G:p.K156K RS11552582 Transmission distortion
9 116356516 2 RGS3 A G exonic nonsynonymous SNV RGS3:NM_144489:exon1:c.A317G:p.Y106C RS12341266 High-grade glioma:Partial epilepsy:Asthma:Glioma:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Hypertrophic cardiomyopathy
9 116356529 2 RGS3 C G exonic nonsynonymous SNV RGS3:NM_144489:exon1:c.C330G:p.C110W
9 117103973 1 AKNA A G exonic nonsynonymous SNV AKNA:NM_001317952:exon20:c.T3550C:p.S1184P,AKNA:NM_001317950:exon21:c.T3907C:p.S1303P,AKNA:NM_030767:exon21:c.T3907C:p.S1303P RS2250242 Differential splicing of AKNA [probeset 3221949] in lymphoblastoid cell lines:LDL cholesterol:Alzheimer's disease:HDL cholesterol:Total cholesterol:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Gene expression of AKNA in blood:Gene expression of ORM1 in blood:Gene expression of ORM2 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Age at death with kuru exposure:Hypertension (early onset hypertension)
9 117124731 1 AKNA G A exonic nonsynonymous SNV AKNA:NM_001317952:exon7:c.C1514T:p.P505L,AKNA:NM_001317950:exon8:c.C1871T:p.P624L,AKNA:NM_030767:exon8:c.C1871T:p.P624L RS3748176 Differential splicing of AKNA [probeset 3221949] in lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:HDL cholesterol:Total cholesterol:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP)
9 117169033 2 WHRN A G exonic nonsynonymous SNV WHRN:NM_001346890:exon5:c.T785C:p.M262T,WHRN:NM_001083885:exon9:c.T689C:p.M230T,WHRN:NM_001173425:exon9:c.T1838C:p.M613T,WHRN:NM_015404:exon9:c.T1838C:p.M613T RS942519 Differential splicing of AKNA [probeset 3221949] in lymphoblastoid cell lines:Differential exon level expression of AKNA [probe 3221949] in peripheral blood mononuclear cells:Alzheimer's disease:Serum creatinine:HDL cholesterol:Total cholesterol:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Cetuximab+5-FU/leucovorin+irinotecan regime):Gene expression of ORM2 in blood:Gene expression of AKNA in blood
9 117186677 2 WHRN A G exonic synonymous SNV WHRN:NM_001346890:exon2:c.T300C:p.G100G,WHRN:NM_001083885:exon6:c.T204C:p.G68G,WHRN:NM_001173425:exon6:c.T1353C:p.G451G,WHRN:NM_015404:exon6:c.T1353C:p.G451G RS4979387 Chronic kidney disease:Cystatin C in serum:Serum creatinine:HDL cholesterol:Triglycerides
9 117188566 2 WHRN C T exonic nonsynonymous SNV WHRN:NM_001173425:exon4:c.G1091A:p.R364H,WHRN:NM_015404:exon4:c.G1091A:p.R364H
9 123170733 2 CDK5RAP2 C G exonic nonsynonymous SNV CDK5RAP2:NM_001272039:exon28:c.G3928C:p.V1310L,CDK5RAP2:NM_001011649:exon31:c.G4618C:p.V1540L,CDK5RAP2:NM_018249:exon31:c.G4618C:p.V1540L RS4837768 Height
9 123583192 1 PSMD5 A G exonic synonymous SNV PSMD5:NM_001270427:exon8:c.T1053C:p.D351D,PSMD5:NM_005047:exon9:c.T1182C:p.D394D RS1060817 Gene expression of EGFL5 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Rheumatoid arthritis:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Frontal cortex:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Caudal pons:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Cerebellum:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Cerebellum:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Temporal cortex:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Caudal pons:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Temporal cortex:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Frontal cortex:Height:Methylation QTL for probe cg09419670:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Bipolar disorder:Gene expression of PSMD5 in normal prepouch ileum:Gene expression change of PSMD5 (ENSG00000095261) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of PSMD5 (ENSG00000095261) in dendritic cells
9 125920376 1 STRBP G A exonic synonymous SNV STRBP:NM_001171137:exon11:c.C918T:p.G306G,STRBP:NM_018387:exon11:c.C960T:p.G320G RS803736 LDL cholesterol:Fasting insulin:HOMA-IR:Comorbid depressive syndrome and alcohol dependence:Infant head circumference
9 126144746 2 DENND1A T C exonic synonymous SNV DENND1A:NM_020946:exon22:c.A1995G:p.G665G
9 126144758 2 DENND1A T C exonic synonymous SNV DENND1A:NM_020946:exon22:c.A1983G:p.S661S
9 127101924 2 NEK6 C T exonic synonymous SNV NEK6:NM_001166167:exon8:c.C751T:p.L251L,NEK6:NM_001166168:exon8:c.C697T:p.L233L,NEK6:NM_001166169:exon8:c.C772T:p.L258L,NEK6:NM_001166170:exon8:c.C697T:p.L233L,NEK6:NM_014397:exon8:c.C697T:p.L233L,NEK6:NM_001145001:exon9:c.C799T:p.L267L,NEK6:NM_001166171:exon9:c.C799T:p.L267L
9 128074807 2 GAPVD1 T C exonic synonymous SNV GAPVD1:NM_001282681:exon6:c.T1518C:p.I506I,GAPVD1:NM_001330778:exon7:c.T1518C:p.I506I,GAPVD1:NM_015635:exon7:c.T1518C:p.I506I,GAPVD1:NM_001330777:exon8:c.T1518C:p.I506I,GAPVD1:NM_001282679:exon9:c.T1518C:p.I506I,GAPVD1:NM_001282680:exon9:c.T1518C:p.I506I RS432757 Stabilized warfarin dose:Rheumatoid arthritis:Longstanding arthritis:Arthritis including non-Rheumatoid:Simpson-Angus Scale:Alzheimer's disease:Gene expression of HSPA5///RABEPK in blood
9 129595895 2 ZBTB43 T C exonic synonymous SNV ZBTB43:NM_001135776:exon2:c.T1107C:p.T369T,ZBTB43:NM_014007:exon3:c.T1107C:p.T369T RS3118994 Total cholesterol change with statins:Triglycerides change with statins:Advanced age-related macular degeneration
9 130494957 2 TOR2A T C exonic nonsynonymous SNV TOR2A:NM_001252018:exon3:c.A121G:p.K41E,TOR2A:NM_001252021:exon3:c.A121G:p.K41E,TOR2A:NM_001085347:exon4:c.A607G:p.K203E RS538066 HOMA-B:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:Adiponectin levels
9 130565267 2 FPGS A G exonic nonsynonymous SNV FPGS:NM_001288803:exon1:c.A64G:p.I22V,FPGS:NM_004957:exon1:c.A64G:p.I22V
9 130630639 2 AK1 A G exonic synonymous SNV AK1:NM_001318122:exon5:c.T525C:p.P175P,AK1:NM_000476:exon6:c.T477C:p.P159P,AK1:NM_001318121:exon6:c.T477C:p.P159P
9 130698029 2 DPM2 G C exonic nonsynonymous SNV DPM2:NM_003863:exon4:c.C227G:p.T76S RS7997 Gene expression of ST6GALNAC4 in peripheral blood monocytes
9 130698043 2 DPM2 A G exonic synonymous SNV DPM2:NM_003863:exon4:c.T213C:p.Y71Y RS6781 Differential exon level expression of DPM2 [probe 3226241] in brain cortex:Differential exon level expression of DPM2 [probe 3226241] in peripheral blood mononuclear cells:Gene expression of DPM2 [probe 209391_at] in prefrontal cortex:Gene expression of SET [probe 40189_at] in prefrontal cortex:Gene expression of CIZ1 [probe 211358_s_at] in prefrontal cortex:Gene expression of C9orf16 [probe 204480_s_at] in prefrontal cortex:Gene expression of ST6GALNAC4 in peripheral blood monocytes:Sporadic Creutzfeldt-Jakob disease
9 130707081 2 FAM102A A G exonic synonymous SNV FAM102A:NM_203305:exon6:c.T588C:p.D196D,FAM102A:NM_001035254:exon9:c.T1014C:p.D338D RS2274426 Fasting blood glucose:Obesity with early age of onset (age >2)
9 130829039 2 NAIF1 A G exonic synonymous SNV NAIF1:NM_197956:exon1:c.T342C:p.G114G
9 130860866 2 SLC25A25 T C exonic synonymous SNV SLC25A25:NM_052901:exon1:c.T21C:p.Y7Y RS947624 Urinary albumin-to-creatinine ratio
9 130864676 2 SLC25A25 T C exonic synonymous SNV SLC25A25:NM_001006641:exon4:c.T504C:p.I168I,SLC25A25:NM_001006642:exon4:c.T462C:p.I154I,SLC25A25:NM_052901:exon4:c.T402C:p.I134I,SLC25A25:NM_001265614:exon5:c.T498C:p.I166I,SLC25A25:NM_001330988:exon5:c.T540C:p.I180I
9 130883511 2 PTGES2 C T exonic synonymous SNV PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A,PTGES2:NM_198938:exon8:c.G474A:p.A158A
9 131085373 2 COQ4 G C exonic nonsynonymous SNV COQ4:NM_001305942:exon2:c.G149C:p.G50A,COQ4:NM_016035:exon2:c.G149C:p.G50A
9 131285955 1 GLE1 A G exonic nonsynonymous SNV GLE1:NM_001003722:exon6:c.A727G:p.I243V,GLE1:NM_001499:exon6:c.A727G:p.I243V RS2275260 PROP taste detection threshold:Gene expression of GLE1 in normal prepouch ileum
9 131346218 2 SPTAN1 A C exonic synonymous SNV SPTAN1:NM_001130438:exon16:c.A2163C:p.A721A,SPTAN1:NM_001195532:exon16:c.A2163C:p.A721A,SPTAN1:NM_003127:exon16:c.A2163C:p.A721A
9 131360750 2 SPTAN1 C T exonic synonymous SNV SPTAN1:NM_001195532:exon24:c.C3426T:p.L1142L,SPTAN1:NM_001130438:exon25:c.C3486T:p.L1162L,SPTAN1:NM_003127:exon25:c.C3486T:p.L1162L
9 131375701 2 SPTAN1 A G exonic synonymous SNV SPTAN1:NM_001195532:exon38:c.A5010G:p.L1670L,SPTAN1:NM_003127:exon39:c.A5070G:p.L1690L,SPTAN1:NM_001130438:exon40:c.A5085G:p.L1695L
9 131379967 2 SPTAN1 C T exonic synonymous SNV SPTAN1:NM_001195532:exon40:c.C5331T:p.T1777T,SPTAN1:NM_003127:exon41:c.C5391T:p.T1797T,SPTAN1:NM_001130438:exon42:c.C5406T:p.T1802T RS2227862 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
9 131397479 2 WDR34 G A exonic synonymous SNV WDR34:NM_052844:exon6:c.C873T:p.T291T RS4837291 2 hour glucose:HDL cholesterol change with statins:Triglycerides change with statins
9 131398636 2 WDR34 C T exonic synonymous SNV WDR34:NM_052844:exon4:c.G627A:p.Q209Q RS10760570 2 hour glucose:HDL cholesterol change with statins:Triglycerides change with statins
9 131403096 2 WDR34 A G exonic synonymous SNV WDR34:NM_052844:exon2:c.T309C:p.Y103Y RS2298045 HDL cholesterol change with statins:Triglycerides change with statins
9 131418828 2 WDR34 A C exonic nonsynonymous SNV WDR34:NM_052844:exon1:c.T178G:p.W60G
9 131483749 2 ZDHHC12 T A exonic nonsynonymous SNV ZDHHC12:NM_001318015:exon5:c.A680T:p.Q227L,ZDHHC12:NM_001318020:exon5:c.A493T:p.S165C,ZDHHC12:NM_001318023:exon5:c.A512T:p.Q171L,ZDHHC12:NM_032799:exon5:c.A515T:p.Q172L
9 131580998 2 ENDOG C T exonic nonsynonymous SNV ENDOG:NM_004435:exon1:c.C35T:p.S12L
9 131585069 2 SPOUT1 A G exonic nonsynonymous SNV SPOUT1:NM_016390:exon12:c.T1106C:p.I369T RS2280843 Gene expression of ST6GALNAC4 in T cells:Triglycerides:Gene expression of ENDOG in CD4+ lymphocytes:Gene expression of C9orf114///ENDOG in blood:Gene expression of ENDOG in blood:Gene expression of CCBL1 in blood:Gene expression of C9orf114 [probeset 222674_at] in sputum:Gene expression of ENDOG in liver:Gene expression of ENDOG (probeID ILMN_1722309) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:Gene expression of PKN3 in normal prepouch ileum:Transmission distortion:Gene expression of ENDOG (probeID ILMN_1722309) in cerebellum in Alzheimer's disease cases and controls
9 131670919 2 LRRC8A T C exonic synonymous SNV LRRC8A:NM_001127245:exon2:c.T1476C:p.R492R,LRRC8A:NM_001127244:exon3:c.T1476C:p.R492R,LRRC8A:NM_019594:exon3:c.T1476C:p.R492R RS3750319 Age at death with kuru exposure:Transmission distortion:Maternal transmission distortion:Gene expression of CCBL1 (ENSG00000171097) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
9 131846957 1 DOLPP1 T C exonic synonymous SNV DOLPP1:NM_001135917:exon2:c.T87C:p.S29S,DOLPP1:NM_020438:exon2:c.T87C:p.S29S RS11541836 Adiponectin levels:Years of education:College completion
9 131860901 2 CRAT G T exonic nonsynonymous SNV CRAT:NM_000755:exon9:c.C1114A:p.L372M,CRAT:NM_001346547:exon9:c.C1114A:p.L372M,CRAT:NM_001346549:exon9:c.C994A:p.L332M,CRAT:NM_001257363:exon10:c.C1051A:p.L351M,CRAT:NM_001346546:exon10:c.C1117A:p.L373M,CRAT:NM_001346548:exon10:c.C1051A:p.L351M,CRAT:NM_004003:exon10:c.C1051A:p.L351M
9 132402908 2 ASB6 C G exonic synonymous SNV ASB6:NM_001202403:exon2:c.G207C:p.V69V,ASB6:NM_017873:exon2:c.G207C:p.V69V,ASB6:NM_177999:exon2:c.G207C:p.V69V
9 132623868 2 USP20 T C exonic synonymous SNV USP20:NM_001008563:exon8:c.T474C:p.A158A,USP20:NM_001110303:exon8:c.T474C:p.A158A,USP20:NM_006676:exon8:c.T474C:p.A158A RS10115249 Serum creatinine:Bipolar disorder:College completion:Birth weight
9 132631680 2 USP20 T C exonic synonymous SNV USP20:NM_001008563:exon13:c.T1368C:p.L456L,USP20:NM_001110303:exon13:c.T1368C:p.L456L,USP20:NM_006676:exon13:c.T1368C:p.L456L RS6478920 Serum creatinine:Bipolar disorder:Birth weight:College completion
9 132686186 2 FNBP1 A G exonic synonymous SNV FNBP1:NM_015033:exon10:c.T1107C:p.H369H
9 132872686 2 GPR107 A G exonic synonymous SNV GPR107:NM_001136557:exon15:c.A1344G:p.L448L,GPR107:NM_001136558:exon15:c.A1344G:p.L448L RS4837460 Partial epilepsy
9 132988709 1 NCS1 T G exonic synonymous SNV NCS1:NM_001128826:exon7:c.T462G:p.G154G,NCS1:NM_014286:exon7:c.T516G:p.G172G RS2277200 Infant head circumference
9 133761001 1 ABL1 A G exonic synonymous SNV ABL1:NM_005157:exon11:c.A3324G:p.P1108P,ABL1:NM_007313:exon11:c.A3381G:p.P1127P
9 134346315 2 PRRC2B T C exonic synonymous SNV PRRC2B:NM_013318:exon13:c.T2052C:p.R684R RS4310250 HDL cholesterol:LDL cholesterol:HDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134350647 2 PRRC2B T C exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T
9 134351065 2 PRRC2B G T exonic synonymous SNV PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G RS7858488 HDL cholesterol:LDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134385436 2 POMT1 A G exonic nonsynonymous SNV POMT1:NM_007171:exon8:c.A752G:p.Q251R RS2296949 Spine bone mineral density (BMD):Differential exon level expression of POMT1 [probe 3192197] in brain cortex:Differential exon level expression of UCK1 [probe 3227651] in brain cortex:HOMA-IR:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Breast cancer:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in non-Alzheimer's disease samples:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases:Years of education:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases
9 134386744 2 POMT1 T C exonic synonymous SNV POMT1:NM_001136114:exon8:c.T525C:p.T175T,POMT1:NM_001077366:exon9:c.T714C:p.T238T,POMT1:NM_001077365:exon10:c.T876C:p.T292T,POMT1:NM_001136113:exon10:c.T876C:p.T292T,POMT1:NM_007171:exon10:c.T942C:p.T314T RS10901065 HDL cholesterol:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels
9 134387488 2 POMT1 T C exonic synonymous SNV POMT1:NM_001136114:exon9:c.T696C:p.D232D,POMT1:NM_001077366:exon10:c.T885C:p.D295D,POMT1:NM_001077365:exon11:c.T1047C:p.D349D,POMT1:NM_001136113:exon11:c.T1047C:p.D349D,POMT1:NM_007171:exon11:c.T1113C:p.D371D RS3739494 Differential exon level expression of POMT1 [probe 3192197] in brain cortex:Differential exon level expression of UCK1 [probe 3227651] in brain cortex:HOMA-IR:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Years of education:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels
9 135263573 2 TTF1 G T exonic synonymous SNV TTF1:NM_001205296:exon7:c.C720A:p.I240I,TTF1:NM_007344:exon8:c.C2265A:p.I755I RS556386 Tardive dyskinesia
9 135273607 2 TTF1 C G exonic synonymous SNV TTF1:NM_001205296:exon3:c.G153C:p.L51L,TTF1:NM_007344:exon4:c.G1698C:p.L566L RS504525 Triglycerides:Childhood acute lymphoblastic leukemia:LDL cholesterol:Total cholesterol:LDL cholesterol:Total cholesterol:Diastolic blood pressure (DBP):Parkinson's disease
9 135470414 2 DDX31 T C exonic nonsynonymous SNV DDX31:NM_001322340:exon18:c.A2176G:p.I726V,DDX31:NM_001322342:exon20:c.A1864G:p.I622V,DDX31:NM_001322343:exon20:c.A2008G:p.I670V,DDX31:NM_022779:exon20:c.A2395G:p.I799V,DDX31:NM_001322341:exon21:c.A2107G:p.I703V RS306547 Barnes Akathisia Rating Scale:Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition):2 hour glucose:HOMA-IR:Fasting blood glucose:Fasting insulin:Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (females):Total cholesterol:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Aortic valve calcium:Gene expression of C9orf171 in normal prepouch ileum
9 135554566 1 GTF3C4 G A exonic synonymous SNV GTF3C4:NM_012204:exon2:c.G1560A:p.E520E RS371169 Gene expression of GTF3C4 [probe 219198_at] in lymphoblastoid cell lines:Methylation levels at chr9:134534077-134534127 [hg18 coord, probe cg09986574] in Temporal cortex:LDL cholesterol:Microalbuminuria:Gene expression of GTF3C4 (probeID ILMN_1733964) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GTF3C4 (probeID ILMN_1733964) in cerebellum in Alzheimer's disease cases and controls
9 135985796 1 RALGDS C T exonic synonymous SNV RALGDS:NM_001042368:exon3:c.G210A:p.V70V,RALGDS:NM_001271774:exon3:c.G324A:p.V108V,RALGDS:NM_001271775:exon3:c.G372A:p.V124V,RALGDS:NM_001271776:exon3:c.G375A:p.V125V,RALGDS:NM_006266:exon3:c.G375A:p.V125V RS3761824 Mitral annular calcium:Refractive error:College completion:Years of education
9 136277480 1 REXO4 A G exonic synonymous SNV REXO4:NM_001279350:exon4:c.T438C:p.T146T,REXO4:NM_001279351:exon4:c.T570C:p.T190T,REXO4:NM_020385:exon4:c.T849C:p.T283T
9 138377915 1 PPP1R26 G A exonic nonsynonymous SNV PPP1R26:NM_014811:exon4:c.G1559A:p.R520H RS3748195 Chronic kidney disease
9 138378856 2 PPP1R26 A G exonic nonsynonymous SNV PPP1R26:NM_014811:exon4:c.A2500G:p.N834D RS2078266 Serum creatinine
9 138379002 2 PPP1R26 T G exonic synonymous SNV PPP1R26:NM_014811:exon4:c.T2646G:p.P882P
9 138379059 1 PPP1R26 G T exonic synonymous SNV PPP1R26:NM_014811:exon4:c.G2703T:p.L901L
9 138838140 2 UBAC1 T C exonic synonymous SNV UBAC1:NM_016172:exon5:c.A519G:p.A173A
9 139222174 2 GPSM1 T C exonic nonsynonymous SNV GPSM1:NM_001145638:exon1:c.T23C:p.V8A,GPSM1:NM_015597:exon1:c.T23C:p.V8A
9 139616742 2 FAM69B A G exonic nonsynonymous SNV FAM69B:NM_152421:exon4:c.A472G:p.S158G RS945384 Type 2 diabetes:Triglycerides:Type 2 diabetes:Alzheimer's disease:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Mitral annular calcium
9 139700605 2 CCDC183 T C exonic nonsynonymous SNV CCDC183:NM_001039374:exon10:c.T1024C:p.W342R RS2811795 Irritible bowel syndrome:Gene expression of FAM69B [probe 3194567] in brain cortex:Differential exon level expression of FAM69B [probe 3194577] in brain cortex:Gene expression of LCN8 in blood:Gene expression of PHPT1 in blood:Sporadic Creutzfeldt-Jakob disease:Infant head circumference:Parkinson's disease
9 139731969 2 RABL6 C T exonic synonymous SNV RABL6:NM_001173988:exon9:c.C984T:p.A328A,RABL6:NM_024718:exon9:c.C981T:p.A327A
9 139732331 2 RABL6 G C exonic nonsynonymous SNV RABL6:NM_001173988:exon10:c.G1147C:p.E383Q,RABL6:NM_024718:exon10:c.G1144C:p.E382Q
9 139739643 2 C9orf172 T C exonic synonymous SNV C9orf172:NM_001080482:exon1:c.T777C:p.P259P
9 139749067 2 MAMDC4 C T exonic synonymous SNV MAMDC4:NM_206920:exon8:c.C873T:p.R291R RS7869864 Cystatin C in serum:Serum creatinine:Gene expression of KIAA1984 (ENSG00000213213) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of FBXW5 (ENSG00000159069) in dendritic cells after treatment with Mycobacterium tuberculosis
9 139752899 2 MAMDC4 T G exonic nonsynonymous SNV MAMDC4:NM_206920:exon22:c.T2722G:p.W908G
9 139904037 1 ABCA2 A G exonic synonymous SNV ABCA2:NM_001606:exon44:c.T6690C:p.L2230L,ABCA2:NM_212533:exon44:c.T6780C:p.L2260L RS7048567 LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of PTGDS in blood:Gene expression of C9orf142///CLIC3 in blood:Gene expression of NPDC1 in blood:Gene expression of DPP7 in blood:Gene expression of MAN1B1 in blood:Gene expression of UAP1L1 in blood:Gene expression of PHPT1 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C9orf142 (probeID ILMN_1761138) in cerebellum in non-Alzheimer's disease samples:Gene expression of C9orf142 (probeID ILMN_1761138) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C9orf142 (probeID ILMN_1761138) in temporal cortex in Alzheimer's disease cases:Gene expression of C9orf142 (probeID ILMN_1761138) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C9orf142 (probeID ILMN_1761138) in cerebellum in Alzheimer's disease cases:Gene expression of C9orf142 (probeID ILMN_1761138) in cerebellum in Progressive Supranuclear Palsy cases
9 139906359 1 ABCA2 G A exonic synonymous SNV ABCA2:NM_001606:exon35:c.C5472T:p.H1824H,ABCA2:NM_212533:exon35:c.C5562T:p.H1854H RS2271862 LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight
9 139913239 2 ABCA2 T G exonic nonsynonymous SNV ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P
9 139973820 1 UAP1L1 C T exonic nonsynonymous SNV UAP1L1:NM_207309:exon5:c.C956T:p.A319V RS7037849 Gene expression of LOC401495 in CHB-JPT lymphoblastoid cell lines:Gene expression of AK023312 in liver:HDL cholesterol:Partial epilepsy:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of UAP1L1 in blood:Gene expression of MAN1B1 in blood
9 139981627 2 MAN1B1 A G exonic nonsynonymous SNV MAN1B1:NM_016219:exon1:c.A176G:p.N59S
9 140002989 1 MAN1B1 T C exonic synonymous SNV MAN1B1:NM_016219:exon13:c.T2046C:p.D682D
9 140006425 1 DPP7 C G exonic synonymous SNV DPP7:NM_013379:exon10:c.G1107C:p.P369P
9 140100317 1 NDOR1 C G exonic nonsynonymous SNV NDOR1:NM_001144026:exon1:c.C88G:p.R30G,NDOR1:NM_001144027:exon1:c.C88G:p.R30G,NDOR1:NM_001144028:exon1:c.C88G:p.R30G,NDOR1:NM_014434:exon1:c.C88G:p.R30G
10 294953 2 ZMYND11 A G exonic synonymous SNV ZMYND11:NM_001202465:exon12:c.A1356G:p.E452E,ZMYND11:NM_001202467:exon12:c.A1449G:p.E483E,ZMYND11:NM_001202464:exon13:c.A1449G:p.E483E,ZMYND11:NM_001202466:exon13:c.A1446G:p.E482E,ZMYND11:NM_001202468:exon13:c.A1611G:p.E537E,ZMYND11:NM_006624:exon14:c.A1611G:p.E537E,ZMYND11:NM_212479:exon14:c.A1608G:p.E536E,ZMYND11:NM_001330057:exon15:c.A1560G:p.E520E RS1017361 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Comorbid depressive syndrome and alcohol dependence:Parkinson's disease:Infant head circumference:Adiponectin levels
10 3143643 2 PFKP A C exonic synonymous SNV PFKP:NM_001323067:exon4:c.A270C:p.R90R,PFKP:NM_001323068:exon4:c.A351C:p.R117R,PFKP:NM_001345944:exon4:c.A237C:p.R79R,PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001323071:exon5:c.A237C:p.R79R,PFKP:NM_001323072:exon5:c.A237C:p.R79R,PFKP:NM_001242339:exon6:c.A327C:p.R109R
10 3150898 2 PFKP C T exonic synonymous SNV PFKP:NM_001323070:exon4:c.C228T:p.V76V,PFKP:NM_001323074:exon4:c.C228T:p.V76V,PFKP:NM_001323073:exon5:c.C228T:p.V76V,PFKP:NM_001323067:exon9:c.C795T:p.V265V,PFKP:NM_001323068:exon9:c.C876T:p.V292V,PFKP:NM_001323069:exon9:c.C369T:p.V123V,PFKP:NM_001345944:exon9:c.C762T:p.V254V,PFKP:NM_002627:exon9:c.C876T:p.V292V,PFKP:NM_001323071:exon10:c.C762T:p.V254V,PFKP:NM_001323072:exon10:c.C762T:p.V254V,PFKP:NM_001242339:exon11:c.C852T:p.V284V
10 3180227 1 PITRM1 T C exonic nonsynonymous SNV PITRM1:NM_001242309:exon24:c.A2816G:p.Q939R,PITRM1:NM_001347725:exon25:c.A2912G:p.Q971R,PITRM1:NM_001347726:exon25:c.A2297G:p.Q766R,PITRM1:NM_001347730:exon25:c.A2888G:p.Q963R,PITRM1:NM_001242307:exon27:c.A3113G:p.Q1038R,PITRM1:NM_001347727:exon27:c.A2495G:p.Q832R,PITRM1:NM_001347728:exon27:c.A1805G:p.Q602R,PITRM1:NM_001347729:exon27:c.A3086G:p.Q1029R,PITRM1:NM_014889:exon27:c.A3110G:p.Q1037R RS6901 Triglycerides change with statins
10 3189380 1 PITRM1 C T exonic synonymous SNV PITRM1:NM_001242309:exon17:c.G2004A:p.P668P,PITRM1:NM_001347725:exon18:c.G2100A:p.P700P,PITRM1:NM_001347726:exon18:c.G1485A:p.P495P,PITRM1:NM_001347730:exon18:c.G2076A:p.P692P,PITRM1:NM_001242307:exon20:c.G2301A:p.P767P,PITRM1:NM_001347727:exon20:c.G1683A:p.P561P,PITRM1:NM_001347728:exon20:c.G993A:p.P331P,PITRM1:NM_001347729:exon20:c.G2274A:p.P758P,PITRM1:NM_014889:exon20:c.G2298A:p.P766P RS3740607 Differential exon level expression of PITRM1 [probe 3274192] in brain cortex:Differential exon level expression of PITRM1 [probe 3274192] in peripheral blood mononuclear cells:Triglycerides change with statins:HDL cholesterol change with statins:Partial epilepsy:Gene expression of PFKP in blood:Gene expression of PFKP///PITRM1 in blood:Mitral annular calcium
10 3200292 1 PITRM1 G A exonic nonsynonymous SNV PITRM1:NM_001242309:exon10:c.C1094T:p.A365V,PITRM1:NM_001242307:exon11:c.C1190T:p.A397V,PITRM1:NM_001347725:exon11:c.C1190T:p.A397V,PITRM1:NM_001347726:exon11:c.C575T:p.A192V,PITRM1:NM_001347727:exon11:c.C575T:p.A192V,PITRM1:NM_001347729:exon11:c.C1166T:p.A389V,PITRM1:NM_001347730:exon11:c.C1166T:p.A389V,PITRM1:NM_014889:exon11:c.C1190T:p.A397V RS3182535 Alzheimer's disease:Gene expression of PFKP///PITRM1 in blood
10 3202065 1 PITRM1 T C exonic nonsynonymous SNV PITRM1:NM_001242309:exon8:c.A886G:p.I296V,PITRM1:NM_001242307:exon9:c.A982G:p.I328V,PITRM1:NM_001347725:exon9:c.A982G:p.I328V,PITRM1:NM_001347726:exon9:c.A367G:p.I123V,PITRM1:NM_001347727:exon9:c.A367G:p.I123V,PITRM1:NM_001347729:exon9:c.A958G:p.I320V,PITRM1:NM_001347730:exon9:c.A958G:p.I320V,PITRM1:NM_014889:exon9:c.A982G:p.I328V RS4242746 Differential exon level expression of PITRM1 [probe 3274179] in brain cortex:Differential exon level expression of PITRM1 [probe 3274216] in brain cortex:Gene expression of PITRM1 [probe 3274173] in brain cortex:Alzheimer's disease:Childhood acute lymphoblastic leukemia:Gene expression of PITRM1 in peripheral blood monocytes:Gene expression of PFKP///PITRM1 in blood:Bipolar disorder in alcoholics:Transmission distortion:Gene expression of PITRM1 (ENSG00000107959) in dendritic cells
10 3206027 1 PITRM1 A G exonic synonymous SNV PITRM1:NM_001242309:exon6:c.T585C:p.P195P,PITRM1:NM_001242307:exon7:c.T681C:p.P227P,PITRM1:NM_001347725:exon7:c.T681C:p.P227P,PITRM1:NM_001347726:exon7:c.T66C:p.P22P,PITRM1:NM_001347727:exon7:c.T66C:p.P22P,PITRM1:NM_001347729:exon7:c.T657C:p.P219P,PITRM1:NM_001347730:exon7:c.T657C:p.P219P,PITRM1:NM_014889:exon7:c.T681C:p.P227P RS4609511 Advanced age-related macular degeneration
10 3208557 1 PITRM1 A G exonic synonymous SNV PITRM1:NM_001242309:exon3:c.T186C:p.T62T,PITRM1:NM_001242307:exon4:c.T282C:p.T94T,PITRM1:NM_001347725:exon4:c.T282C:p.T94T,PITRM1:NM_001347729:exon4:c.T258C:p.T86T,PITRM1:NM_001347730:exon4:c.T258C:p.T86T,PITRM1:NM_014889:exon4:c.T282C:p.T94T
10 5139685 2 AKR1C3 G A exonic synonymous SNV AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K RS12387 Triglycerides:Total cholesterol:Total cholesterol:LDL cholesterol:Triglycerides:Height:Susceptibility to cytomegalovirus infection:Obesity with early age of onset (age >2):Birth weight:College completion
10 5495218 2 NET1 T C exonic synonymous SNV NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y RS4567355 Abnormal Involuntary Movement Scale
10 5781628 1 FAM208B T G exonic nonsynonymous SNV FAM208B:NM_001321785:exon13:c.T1252G:p.C418G,FAM208B:NM_017782:exon13:c.T1495G:p.C499G,FAM208B:NM_001321783:exon14:c.T1495G:p.C499G,FAM208B:NM_001321784:exon14:c.T1495G:p.C499G RS2254067 Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Longstanding arthritis:Triglycerides:Differential exon level expression of C10orf18 [probe 3233383] in brain cortex:Differential exon level expression of C10orf18 [probe 3233383] in peripheral blood mononuclear cells:2 hour glucose:Urinary albumin-to-creatinine ratio:Adiponectin levels:Transmission distortion:College completion
10 5781969 1 FAM208B A T exonic synonymous SNV FAM208B:NM_001321785:exon13:c.A1593T:p.T531T,FAM208B:NM_017782:exon13:c.A1836T:p.T612T,FAM208B:NM_001321783:exon14:c.A1836T:p.T612T,FAM208B:NM_001321784:exon14:c.A1836T:p.T612T RS2797486 Triglycerides:2 hour glucose:Urinary albumin-to-creatinine ratio:Adiponectin levels:College completion
10 5788608 1 FAM208B G C exonic nonsynonymous SNV FAM208B:NM_001321785:exon15:c.G2981C:p.R994P,FAM208B:NM_017782:exon15:c.G3224C:p.R1075P,FAM208B:NM_001321783:exon16:c.G3224C:p.R1075P,FAM208B:NM_001321784:exon16:c.G3224C:p.R1075P RS2797491 Triglycerides:2 hour glucose:Gene expression of NAPRT1 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:College completion:Adiponectin levels
10 5790420 2 FAM208B T C exonic nonsynonymous SNV FAM208B:NM_001321785:exon15:c.T4793C:p.V1598A,FAM208B:NM_017782:exon15:c.T5036C:p.V1679A,FAM208B:NM_001321783:exon16:c.T5036C:p.V1679A,FAM208B:NM_001321784:exon16:c.T5036C:p.V1679A
10 5804531 1 FAM208B G A exonic nonsynonymous SNV FAM208B:NM_001321785:exon20:c.G6968A:p.S2323N,FAM208B:NM_017782:exon20:c.G7211A:p.S2404N,FAM208B:NM_001321783:exon21:c.G7211A:p.S2404N,FAM208B:NM_001321784:exon21:c.G7211A:p.S2404N RS2797501 Arthritis including non-Rheumatoid:Differential exon level expression of C10orf18 [probe 3233383] in peripheral blood mononuclear cells:Differential exon level expression of C10orf18 [probe 3233383] in brain cortex:2 hour glucose:Urinary albumin-to-creatinine ratio:Microalbuminuria:Transmission distortion:Years of education
10 5920121 2 ANKRD16 T C exonic nonsynonymous SNV ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R RS1052420 LDL cholesterol:Schizophrenia:HDL cholesterol:LDL cholesterol:Lp-PLA2 activity:Microalbuminuria:Gene expression of FBXO18 in blood:Gene expression of ANKRD16 (probeID ILMN_1659156) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ANKRD16 (probeID ILMN_1659156) in temporal cortex in Alzheimer's disease cases and controls
10 5925971 2 ANKRD16 C A exonic synonymous SNV ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_019046:exon4:c.G648T:p.G216G
10 7763661 2 ITIH2 A G exonic nonsynonymous SNV ITIH2:NM_002216:exon8:c.A788G:p.N263S
10 8006798 2 TAF3 A G exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.A1325G:p.N442S RS4747647 Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Neuroblastoma (brain cancer):Birth weight
10 8007559 2 TAF3 G C exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.G2086C:p.V696L RS10795583 Cystatin C in serum:Rheumatoid arthritis:Birth weight
10 8007560 2 TAF3 T C exonic nonsynonymous SNV TAF3:NM_031923:exon3:c.T2087C:p.V696A RS1244229 Eye color:Rheumatoid arthritis:Urinary albumin-to-creatinine ratio
10 12111090 2 DHTKD1 T C exonic nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L
10 12131081 1 DHTKD1 T G exonic nonsynonymous SNV DHTKD1:NM_018706:exon5:c.T814G:p.Y272D RS3740015 HDL cholesterol:Schizophrenia:Asthma:Height:Gene expression of SEC61A2 in blood
10 12143105 1 DHTKD1 C G exonic nonsynonymous SNV DHTKD1:NM_018706:exon10:c.C1821G:p.I607M
10 12148259 2 DHTKD1 A C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P
10 12148286 2 DHTKD1 T C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F
10 12149939 2 DHTKD1 C T exonic synonymous SNV DHTKD1:NM_018706:exon12:c.C2079T:p.I693I RS1722462 LDL cholesterol:Total cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education
10 12191933 1 SEC61A2 C T exonic synonymous SNV SEC61A2:NM_001142628:exon5:c.C369T:p.A123A,SEC61A2:NM_001142627:exon6:c.C435T:p.A145A,SEC61A2:NM_018144:exon6:c.C435T:p.A145A RS10466280 Gene expression of SEC61A2 [probe 219499_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Longstanding arthritis:Triglycerides:2 hour glucose:Gene expression of SEC61A2 in blood:Advanced age-related macular degeneration (geographic atrophy):Gene expression change of DHTKD1 (ENSG00000181192) in dendritic cells after treatment with Mycobacterium tuberculosis:Coronary artery disease (CAD):Gene expression of SEC61A2 (probeID ILMN_1779381) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SEC61A2 (probeID ILMN_1779381) in cerebellum in Alzheimer's disease cases and controls
10 12209752 1 NUDT5 T C exonic synonymous SNV NUDT5:NM_001321647:exon9:c.A600G:p.A200A,NUDT5:NM_014142:exon10:c.A609G:p.A203A,NUDT5:NM_001321648:exon11:c.A351G:p.A117A RS6686 Gene expression of SEC61A2 [probe 219499_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol:Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
10 13166076 2 OPTN A G exonic nonsynonymous SNV OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E
10 13337588 2 PHYH G A exonic synonymous SNV PHYH:NM_001323082:exon3:c.C153T:p.N51N,PHYH:NM_001323083:exon3:c.C153T:p.N51N,PHYH:NM_006214:exon3:c.C153T:p.N51N
10 13375906 2 SEPHS1 T C exonic synonymous SNV SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T RS10752297 LDL cholesterol:Triglycerides:LDL cholesterol:IGP72:IGP64:IGP70:Gene expression of PHYH (probeID ILMN_2282352) in temporal cortex in Alzheimer's disease cases and controls:IGP71:IGP68:IGP66:Gene expression of PHYH (probeID ILMN_2282352) in cerebellum in Alzheimer's disease cases and controls:IGP49
10 14944416 1 SUV39H2 A G exonic nonsynonymous SNV SUV39H2:NM_024670:exon5:c.A958G:p.I320V,SUV39H2:NM_001193424:exon6:c.A1138G:p.I380V,SUV39H2:NM_001193425:exon6:c.A958G:p.I320V,SUV39H2:NM_001193426:exon6:c.A598G:p.I200V,SUV39H2:NM_001193427:exon6:c.A418G:p.I140V
10 17659131 2 HACD1 C A exonic nonsynonymous SNV HACD1:NM_014241:exon1:c.G208T:p.V70F
10 17659149 2 HACD1 C T exonic nonsynonymous SNV HACD1:NM_014241:exon1:c.G190A:p.E64K
10 22839628 2 PIP4K2A T C exonic nonsynonymous SNV PIP4K2A:NM_001330062:exon7:c.A575G:p.N192S,PIP4K2A:NM_005028:exon7:c.A752G:p.N251S RS2230469 Differential splicing of LOC643475 [probeset 3281092] in lymphoblastoid cell lines:Differential splicing of PIP5K2A [probeset 3281092] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of PIP5K2A in peripheral blood monocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
10 24790393 1 KIAA1217 A G exonic synonymous SNV KIAA1217:NM_001282769:exon4:c.A969G:p.S323S,KIAA1217:NM_001282770:exon4:c.A969G:p.S323S,KIAA1217:NM_001321681:exon5:c.A1074G:p.S358S,KIAA1217:NM_001282767:exon8:c.A1815G:p.S605S,KIAA1217:NM_001282768:exon8:c.A1815G:p.S605S,KIAA1217:NM_019590:exon9:c.A1920G:p.S640S,KIAA1217:NM_001098500:exon10:c.A1680G:p.S560S
10 25312689 1 THNSL1 A G exonic synonymous SNV THNSL1:NM_024838:exon3:c.A537G:p.G179G
10 25313818 1 THNSL1 C T exonic synonymous SNV THNSL1:NM_024838:exon3:c.C1666T:p.L556L RS7086282 Hip bone mineral density (BMD):Age at death with kuru exposure:Birth weight
10 27434483 1 YME1L1 G A exonic synonymous SNV YME1L1:NM_001253866:exon3:c.C205T:p.L69L,YME1L1:NM_014263:exon3:c.C205T:p.L69L,YME1L1:NM_139312:exon4:c.C376T:p.L126L RS2274634 Longstanding arthritis:Rheumatoid arthritis:LDL cholesterol:Gene expression of MASTL in CD4+ lymphocytes:Gene expression of ANKRD26 in CD4+ lymphocytes:Body mass index (BMI):Gene expression of RP11-85G18.2 in blood:Gene expression of ACBD5 (probeID ILMN_2410362) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ACBD5 (probeID ILMN_2410362) in temporal cortex in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Maternal transmission distortion:Gene expression of ACBD5 (probeID ILMN_2410362) in cerebellum in Alzheimer's disease cases:Gene expression of ACBD5 (probeID ILMN_2410362) in temporal cortex in non-Alzheimer's disease samples:Gene expression of MASTL (probeID ILMN_2135984) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression of MASTL in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 27459670 1 MASTL C T exonic synonymous SNV MASTL:NM_001172303:exon8:c.C1782T:p.I594I,MASTL:NM_001172304:exon8:c.C1782T:p.I594I,MASTL:NM_001320756:exon8:c.C1782T:p.I594I,MASTL:NM_001320757:exon8:c.C1782T:p.I594I,MASTL:NM_032844:exon8:c.C1782T:p.I594I RS1981296 Rheumatoid arthritis:Height:Mitral annular calcium:Gene expression of MASTL in normal prepouch ileum:Obesity with early age of onset (age >2)
10 27475444 1 MASTL T C exonic synonymous SNV MASTL:NM_001172304:exon11:c.T2502C:p.T834T,MASTL:NM_001172303:exon12:c.T2619C:p.T873T,MASTL:NM_032844:exon12:c.T2616C:p.T872T,MASTL:NM_001320756:exon13:c.T2631C:p.T877T,MASTL:NM_001320757:exon13:c.T2634C:p.T878T RS10741130 Height:Mitral annular calcium:Obesity with early age of onset (age >2)
10 28378758 2 MPP7 T C exonic nonsynonymous SNV MPP7:NM_001318170:exon12:c.A965G:p.K322R,MPP7:NM_173496:exon14:c.A965G:p.K322R RS2997211 Rheumatoid arthritis:Longstanding arthritis:HOMA-IR:PROP taste detection threshold:Resistance to kuru in aged women despite likely exposure:Infant head circumference
10 29839864 1 SVIL A C exonic synonymous SNV SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_001323599:exon8:c.T489G:p.A163A,SVIL:NM_001323600:exon8:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A RS1270874 Type 2 diabetes:Eye color:Fasting blood glucose:HDL cholesterol change with statins:Partial epilepsy:Microalbuminuria:Urinary albumin-to-creatinine ratio
10 32974969 2 CCDC7 A G exonic nonsynonymous SNV CCDC7:NM_001321115:exon23:c.A2194G:p.I732V RS1762526 Salmonella-induced pyroptosis
10 33209266 2 ITGB1 G T exonic synonymous SNV ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G RS2230396 Salmonella-induced pyroptosis:Gene expression of C10orf68 in normal prepouch ileum
10 33552696 2 NRP1 A G exonic nonsynonymous SNV NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A
10 34688287 2 PARD3 G A exonic synonymous SNV PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H
10 43089965 2 ZNF33B G A exonic nonsynonymous SNV ZNF33B:NM_001305033:exon4:c.C454T:p.R152C,ZNF33B:NM_001305036:exon5:c.C97T:p.R33C,ZNF33B:NM_001305037:exon5:c.C97T:p.R33C,ZNF33B:NM_001305038:exon5:c.C97T:p.R33C,ZNF33B:NM_006955:exon5:c.C433T:p.R145C,ZNF33B:NM_001305035:exon6:c.C97T:p.R33C,ZNF33B:NM_001305039:exon6:c.C97T:p.R33C,ZNF33B:NM_001305040:exon7:c.C97T:p.R33C RS210280 Gene expression of ZNF11B in CEU-CHB-JPT lymphoblastoid cell lines:Differential exon level expression of ZNF33B [probe 3285993] in peripheral blood mononuclear cells:Differential exon level expression of ZNF33B [probe 3285993] in brain cortex:Microalbuminuria:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of ZNF33B in blood
10 43315762 1 BMS1 C T exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.C2659T:p.R887C
10 43315765 1 BMS1 A G exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.A2662G:p.I888V
10 43315814 1 BMS1 A G exonic nonsynonymous SNV BMS1:NM_014753:exon16:c.A2711G:p.H904R
10 43315848 1 BMS1 T C exonic synonymous SNV BMS1:NM_014753:exon16:c.T2745C:p.S915S
10 43315863 1 BMS1 C A exonic synonymous SNV BMS1:NM_014753:exon16:c.C2760A:p.G920G
10 43316120 1 BMS1 C T exonic synonymous SNV BMS1:NM_014753:exon17:c.C2934T:p.C978C
10 50723684 2 ERCC6;PGBD3 G A exonic synonymous SNV PGBD3:NM_170753:exon2:c.C1477T:p.L493L,ERCC6:NM_001277058:exon6:c.C2881T:p.L961L,ERCC6:NM_001277059:exon6:c.C2881T:p.L961L RS4253073 Schizophrenia:LDL cholesterol change with statins:Triglycerides change with statins:Mitral annular calcium
10 50724016 2 ERCC6;PGBD3 C T exonic nonsynonymous SNV PGBD3:NM_170753:exon2:c.G1145A:p.R382K,ERCC6:NM_001277058:exon6:c.G2549A:p.R850K,ERCC6:NM_001277059:exon6:c.G2549A:p.R850K
10 50960209 2 OGDHL G A exonic synonymous SNV OGDHL:NM_001143996:exon4:c.C393T:p.L131L,OGDHL:NM_001347820:exon4:c.C393T:p.L131L,OGDHL:NM_001347819:exon5:c.C564T:p.L188L,OGDHL:NM_001347823:exon5:c.C564T:p.L188L,OGDHL:NM_001347824:exon5:c.C564T:p.L188L,OGDHL:NM_018245:exon5:c.C564T:p.L188L RS1258184 Total cholesterol:HDL cholesterol:Serum creatinine:Cystatin C in serum:HDL cholesterol:Birth weight:Obesity with early age of onset (age >2)
10 51361785 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon3:c.A1073G:p.Q358R,PARG:NM_001303486:exon4:c.A1151G:p.Q384R,PARG:NM_001324381:exon4:c.A1151G:p.Q384R,PARG:NM_003631:exon4:c.A1397G:p.Q466R
10 51361850 1 PARG C T exonic synonymous SNV PARG:NM_001303487:exon3:c.G1008A:p.P336P,PARG:NM_001303486:exon4:c.G1086A:p.P362P,PARG:NM_001324381:exon4:c.G1086A:p.P362P,PARG:NM_003631:exon4:c.G1332A:p.P444P
10 51363013 2 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C735T:p.F245F,PARG:NM_001303486:exon3:c.C813T:p.F271F,PARG:NM_001324381:exon3:c.C813T:p.F271F,PARG:NM_003631:exon3:c.C1059T:p.F353F
10 51363169 2 PARG T C exonic synonymous SNV PARG:NM_001303487:exon2:c.A579G:p.E193E,PARG:NM_001303486:exon3:c.A657G:p.E219E,PARG:NM_001324381:exon3:c.A657G:p.E219E,PARG:NM_003631:exon3:c.A903G:p.E301E
10 51363249 1 PARG A G exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.T499C:p.S167P,PARG:NM_001303486:exon3:c.T577C:p.S193P,PARG:NM_001324381:exon3:c.T577C:p.S193P,PARG:NM_003631:exon3:c.T823C:p.S275P
10 51363294 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E
10 51363304 1 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C444T:p.D148D,PARG:NM_001303486:exon3:c.C522T:p.D174D,PARG:NM_001324381:exon3:c.C522T:p.D174D,PARG:NM_003631:exon3:c.C768T:p.D256D
10 51363758 2 PARG A C exonic nonsynonymous SNV PARG:NM_001303486:exon3:c.T68G:p.I23R,PARG:NM_001324381:exon3:c.T68G:p.I23R,PARG:NM_003631:exon3:c.T314G:p.I105R
10 51364733 2 PARG C T exonic nonsynonymous SNV PARG:NM_001303486:exon2:c.G10A:p.E4K,PARG:NM_001324381:exon2:c.G10A:p.E4K,PARG:NM_003631:exon2:c.G256A:p.E86K
10 51370889 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303489:exon1:c.A178G:p.R60G,PARG:NM_003631:exon1:c.A182G:p.Q61R
10 51370975 2 PARG C G exonic nonsynonymous SNV PARG:NM_001303489:exon1:c.G92C:p.R31P
10 52103707 1 SGMS1 A G exonic synonymous SNV SGMS1:NM_147156:exon7:c.T168C:p.N56N RS10763354 Total cholesterol:Urinary albumin-to-creatinine ratio:Aortic valve calcium
10 58118630 2 ZWINT T C exonic nonsynonymous SNV ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G RS2241666 Infant head circumference:Parkinson's disease
10 59955992 1 IPMK A C exonic nonsynonymous SNV IPMK:NM_152230:exon6:c.T1096G:p.F366V
10 59956347 1 IPMK A G exonic synonymous SNV IPMK:NM_152230:exon6:c.T741C:p.N247N
10 59956390 1 IPMK A G exonic nonsynonymous SNV IPMK:NM_152230:exon6:c.T698C:p.I233T
10 59976012 1 IPMK A G exonic nonsynonymous SNV IPMK:NM_152230:exon4:c.T440C:p.I147T
10 60577393 2 BICC1 T C exonic synonymous SNV BICC1:NM_001080512:exon19:c.T2605C:p.L869L RS4344442 LDL cholesterol change with statins:Total cholesterol change with statins:Chronic kidney disease:Salmonella-induced pyroptosis:Adiponectin levels
10 60588553 2 BICC1 T C exonic nonsynonymous SNV BICC1:NM_001080512:exon21:c.T2827C:p.S943P RS4948550 Allergic rhinitis:Atopy:Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy)
10 61552774 1 CCDC6 C T exonic synonymous SNV CCDC6:NM_005436:exon9:c.G1326A:p.P442P
10 63958112 2 RTKN2 T C exonic nonsynonymous SNV RTKN2:NM_145307:exon12:c.A1385G:p.H462R RS3125734 Eye color:Total cholesterol:Gene expression of RP11-341A19.1 in blood:Comorbid depressive syndrome and alcohol dependence:Primary rhegmatogenous retinal detachment:Rheumatoid arthritis:Graves' disease
10 64967445 2 JMJD1C A T exonic synonymous SNV JMJD1C:NM_001322254:exon8:c.T3327A:p.R1109R,JMJD1C:NM_001282948:exon9:c.T3438A:p.R1146R,JMJD1C:NM_001318153:exon9:c.T3120A:p.R1040R,JMJD1C:NM_001322252:exon9:c.T3870A:p.R1290R,JMJD1C:NM_001322258:exon9:c.T3327A:p.R1109R,JMJD1C:NM_001318154:exon10:c.T3438A:p.R1146R,JMJD1C:NM_032776:exon10:c.T3984A:p.R1328R
10 70105560 1 RUFY2 G A exonic synonymous SNV RUFY2:NM_001330103:exon18:c.C1786T:p.L596L,RUFY2:NM_017987:exon18:c.C1891T:p.L631L RS1162753 Gene expression of DNA2 in normal prepouch ileum:Gene expression of HNRNPH3 (ENSG00000096746) in dendritic cells
10 70227964 1 DNA2 C T exonic synonymous SNV DNA2:NM_001080449:exon3:c.G357A:p.L119L
10 70696713 2 DDX50 C T exonic synonymous SNV DDX50:NM_024045:exon12:c.C1617T:p.Y539Y RS5030895 Aortic valve calcium
10 71010375 1 HKDC1 C T exonic synonymous SNV HKDC1:NM_025130:exon12:c.C1803T:p.F601F RS5030948 2 hour glucose:Autism:Total cholesterol:LDL cholesterol
10 71018660 2 HKDC1 T C exonic nonsynonymous SNV HKDC1:NM_025130:exon15:c.T2161C:p.W721R
10 71103597 2 HK1 C G exonic synonymous SNV HK1:NM_000188:exon2:c.C78G:p.L26L,HK1:NM_001322367:exon2:c.C78G:p.L26L,HK1:NM_033496:exon2:c.C75G:p.L25L,HK1:NM_001322364:exon4:c.C90G:p.L30L,HK1:NM_033497:exon5:c.C90G:p.L30L,HK1:NM_033498:exon5:c.C90G:p.L30L,HK1:NM_033500:exon6:c.C42G:p.L14L,HK1:NM_001322365:exon7:c.C183G:p.L61L RS1133189 LDL cholesterol:Height:Hemoglobin (Hb):Obesity with early age of onset (age >2)
10 71876382 2 AIFM2 C T exonic synonymous SNV AIFM2:NM_001198696:exon7:c.G765A:p.A255A,AIFM2:NM_032797:exon7:c.G765A:p.A255A RS2394656 Type 2 diabetes
10 71905569 1 TYSND1 C A exonic synonymous SNV TYSND1:NM_001040273:exon1:c.G774T:p.L258L,TYSND1:NM_173555:exon1:c.G774T:p.L258L RS3750774 Gene expression of SAR1A [probe 210790_s_at] in lymphoblastoid cell lines:Gene expression of SAR1A [probe 201542_at] in lymphoblastoid cell lines:LDL cholesterol change with statins:HDL cholesterol change with statins:Triglycerides change with statins:Rheumatoid arthritis:Methylation levels at chr10:71562721-71562771 [hg18 coord, probe cg26699283] in Temporal cortex:Methylation levels at chr10:71562716-71562766 [hg18 coord, probe cg02100629] in Temporal cortex:Comorbid depressive syndrome and alcohol dependence
10 71906150 1 TYSND1 T C exonic nonsynonymous SNV TYSND1:NM_001040273:exon1:c.A193G:p.T65A,TYSND1:NM_173555:exon1:c.A193G:p.T65A
10 72619205 2 SGPL1 C T exonic synonymous SNV SGPL1:NM_003901:exon7:c.C564T:p.I188I
10 73082563 2 SLC29A3 A G exonic nonsynonymous SNV SLC29A3:NM_001174098:exon2:c.A52G:p.R18G,SLC29A3:NM_018344:exon2:c.A52G:p.R18G RS2277257 Longstanding arthritis:Arthritis including non-Rheumatoid:Rheumatoid arthritis:Schizophrenia:Premature ovarian failure:Lp-PLA2 activity:Late onset Alzheimer's disease:Years of education:Aortic valve calcium
10 73115941 2 SLC29A3 T C exonic synonymous SNV SLC29A3:NM_001174098:exon5:c.T714C:p.T238T,SLC29A3:NM_018344:exon5:c.T714C:p.T238T
10 73115942 2 SLC29A3 G A exonic nonsynonymous SNV SLC29A3:NM_001174098:exon5:c.G715A:p.V239I,SLC29A3:NM_018344:exon5:c.G715A:p.V239I RS2252996 Gene expression of SLC29A3 [probe 3251023] in peripheral blood mononuclear cells:Neuroblastoma (brain cancer):Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of SLC29A3 in blood:Infant head circumference:Mitral annular calcium:College completion:Systemic lupus erythematosus (SLE)
10 73121913 2 SLC29A3 A G exonic nonsynonymous SNV SLC29A3:NM_018344:exon6:c.A976G:p.I326V RS2487068 Gene expression of SLC29A3 [probe 3251023] in peripheral blood mononuclear cells:Asthma:Gene expression of SLC29A3 in blood:Mitral annular calcium:Obesity with early age of onset (age >2)
10 73121945 2 SLC29A3 T C exonic synonymous SNV SLC29A3:NM_018344:exon6:c.T1008C:p.G336G RS1084004 Gene expression of SLC29A3 [probe 3251023] in peripheral blood mononuclear cells:Premature ovarian failure:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of SLC29A3 in blood:Fasting serum insulin (uU/mL) in children:Coronary artery disease (CAD):HOMA-IR in children:Hypertension (early onset hypertension):College completion
10 73767859 1 CHST3 G A exonic nonsynonymous SNV CHST3:NM_004273:exon3:c.G1070A:p.R357Q
10 75506674 1 SEC24C T C exonic synonymous SNV SEC24C:NM_198597:exon2:c.T84C:p.Y28Y,SEC24C:NM_004922:exon3:c.T84C:p.Y28Y RS2306325 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Mitral annular calcium
10 75558867 1 ZSWIM8 G A exonic synonymous SNV ZSWIM8:NM_001242487:exon21:c.G4269A:p.L1423L,ZSWIM8:NM_001242488:exon21:c.G4269A:p.L1423L,ZSWIM8:NM_015037:exon21:c.G4284A:p.L1428L RS2271271 HDL cholesterol:Triglycerides:Nicotine dependence (smoking), smoking cessation:Rheumatoid arthritis:Methylation levels at chr10:75242176-75242226 [hg18 coord, probe cg16540259] in Temporal cortex:Methylation levels at chr10:75242176-75242226 [hg18 coord, probe cg16540259] in Cerebellum:Methylation levels at chr10:75242176-75242226 [hg18 coord, probe cg16540259] in Frontal cortex:HDL cholesterol:Triglycerides:Asthma:Systolic blood pressure (SBP):College completion:Hypertension (early onset hypertension):Infant head circumference:Years of education:Tetrology of fallot
10 75673101 2 PLAU T C exonic nonsynonymous SNV PLAU:NM_001145031:exon5:c.T371C:p.L124P,PLAU:NM_001319191:exon5:c.T164C:p.L55P,PLAU:NM_002658:exon6:c.T422C:p.L141P RS2227564 Spine bone mineral density (BMD):Irritible bowel syndrome:LDL cholesterol:HDL cholesterol:Methylation levels at chr10:75242176-75242226 [hg18 coord, probe cg16540259] in Cerebellum:Triglycerides:Gene expression of PLAU///C10orf55 in blood:Gene expression of AC022400.9///CAMK2G in blood:Gene expression of KIAA0913///NDST2 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Venous thrombosis:Bipolar disorder:Years of education:Coronary artery disease (CAD):Gene expression change of PLAU (ENSG00000122861) in dendritic cells after treatment with Mycobacterium tuberculosis:Infant head circumference:College completion:Inflammatory bowel disease
10 79616605 2 DLG5 T C exonic nonsynonymous SNV DLG5:NM_004747:exon3:c.A419G:p.Q140R RS1248696 Arthritis including non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with statins:Asthma:Late onset Alzheimer's disease
10 81926702 2 ANXA11 G A exonic nonsynonymous SNV ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C RS1049550 Sarcoidosis:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen - disease control response):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen):Mitral annular calcium:Birth weight:Sarcoidosis
10 88203068 2 WAPL T C exonic synonymous SNV WAPL:NM_001318328:exon17:c.A3357G:p.T1119T,WAPL:NM_015045:exon17:c.A3375G:p.T1125T RS7094132 Height
10 88993813 2 NUTM2A T A exonic nonsynonymous SNV NUTM2A:NM_001099338:exon7:c.T1985A:p.V662D
10 89623901 2 PTEN G C exonic nonsynonymous SNV PTEN:NM_001304717:exon2:c.G194C:p.C65S
10 90771829 2 FAS T C exonic synonymous SNV FAS:NM_152871:exon6:c.T579C:p.T193T,FAS:NM_000043:exon7:c.T642C:p.T214T,FAS:NM_152872:exon7:c.T642C:p.T214T RS2234978 Arthritis including non-Rheumatoid:Gene expression of ACTA2 [probe 3299504] in peripheral blood mononuclear cells:Gene expression of ACTA2 in peripheral blood monocytes:Gene expression of FAS in peripheral blood monocytes:Selective immunoglobulin A deficiency (IgAD):Neuroblastoma (brain cancer):Gene expression of AL157394.15///ACTA2///RP11-399O19.3 in blood:Gene expression of FAS (probeID ILMN_2319077) in temporal cortex in Alzheimer's disease cases:Gene expression of FAS in normal prepouch ileum:Gene expression of ACTA2 (probeID ILMN_430338) in whole blood:Gene expression of FAS (probeID ILMN_2319077) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAS (probeID ILMN_1808132) in temporal cortex in Alzheimer's disease cases and controls:Years of education
10 91162497 2 IFIT1 A G exonic synonymous SNV IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K RS303211 Longstanding arthritis:Waist circumference:Body mass index (BMI):Tourette's syndrome:Primary rhegmatogenous retinal detachment
10 91498127 2 KIF20B T C exonic nonsynonymous SNV KIF20B:NM_001284259:exon20:c.T3529C:p.C1177R,KIF20B:NM_016195:exon20:c.T3409C:p.C1137R RS1886996 LDL cholesterol:HDL cholesterol change with statins:Lp-PLA2 mass:LDL cholesterol:Neuroblastoma (brain cancer):Gene expression of KIF20B in blood:Sporadic Creutzfeldt-Jakob disease:College completion:Salmonella-induced pyroptosis:Advanced age-related macular degeneration
10 93170250 2 HECTD2 C G exonic nonsynonymous SNV HECTD2:NM_001284274:exon1:c.C55G:p.P19A,HECTD2:NM_173497:exon1:c.C55G:p.P19A,HECTD2:NM_182765:exon1:c.C55G:p.P19A
10 95072906 2 MYOF T C exonic synonymous SNV MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R RS787666 Bipolar disorder
10 95262981 2 CEP55 A G exonic nonsynonymous SNV CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A
10 95279506 2 CEP55 A T exonic nonsynonymous SNV CEP55:NM_001127182:exon8:c.A1133T:p.H378L,CEP55:NM_018131:exon8:c.A1133T:p.H378L RS2293277 HDL cholesterol:HDL cholesterol:Gene expression of GPR120 in peripheral blood monocytes:HDL cholesterol:Height:Microalbuminuria:Adiponectin levels
10 97447373 2 TCTN3 A T exonic synonymous SNV TCTN3:NM_015631:exon4:c.T603A:p.T201T
10 98386558 2 PIK3AP1 G A exonic synonymous SNV PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L
10 99160965 2 RRP12 A G exonic synonymous SNV RRP12:NM_001145114:exon1:c.T24C:p.P8P,RRP12:NM_001284337:exon1:c.T24C:p.P8P,RRP12:NM_015179:exon1:c.T24C:p.P8P
10 99219885 2 MMS19 G A exonic synonymous SNV MMS19:NM_001330128:exon24:c.C2280T:p.A760A,MMS19:NM_001289403:exon25:c.C2445T:p.A815A,MMS19:NM_001289404:exon25:c.C2097T:p.A699A,MMS19:NM_001351357:exon25:c.C2100T:p.A700A,MMS19:NM_001351358:exon25:c.C1482T:p.A494A,MMS19:NM_001351359:exon26:c.C1482T:p.A494A,MMS19:NM_022362:exon26:c.C2574T:p.A858A,MMS19:NM_001289405:exon27:c.C2574T:p.A858A,MMS19:NM_001351356:exon27:c.C2691T:p.A897A RS2152092 HDL cholesterol:Differential exon level expression of MMS19 [probe 3302377] in peripheral blood mononuclear cells:Gene expression of MMS19 [probe 3302360] in peripheral blood mononuclear cells:Differential exon level expression of MMS19 [probe 3302379] in peripheral blood mononuclear cells:Differential exon level expression of MMS19 [probe 3302380] in peripheral blood mononuclear cells:Differential exon level expression of MMS19 [probe 3302381] in peripheral blood mononuclear cells:Fasting insulin:Rheumatoid arthritis:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
10 99240758 2 MMS19 G C exonic nonsynonymous SNV MMS19:NM_001289403:exon3:c.C203G:p.A68G,MMS19:NM_001330128:exon3:c.C203G:p.A68G,MMS19:NM_001351356:exon3:c.C203G:p.A68G,MMS19:NM_022362:exon3:c.C203G:p.A68G,MMS19:NM_001289405:exon4:c.C203G:p.A68G RS2275586 LDL cholesterol
10 99504630 2 ZFYVE27 G T exonic nonsynonymous SNV ZFYVE27:NM_001174121:exon2:c.G119T:p.G40V,ZFYVE27:NM_001002261:exon3:c.G413T:p.G138V,ZFYVE27:NM_001174119:exon3:c.G317T:p.G106V,ZFYVE27:NM_001002262:exon4:c.G413T:p.G138V,ZFYVE27:NM_144588:exon4:c.G413T:p.G138V RS10882993 2 hour glucose
10 99991408 2 R3HCC1L A G exonic nonsynonymous SNV R3HCC1L:NM_001351016:exon3:c.A1925G:p.H642R,R3HCC1L:NM_001256621:exon4:c.A143G:p.H48R,R3HCC1L:NM_001351013:exon4:c.A1925G:p.H642R,R3HCC1L:NM_001256620:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351012:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351017:exon5:c.A1925G:p.H642R,R3HCC1L:NM_014472:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351015:exon6:c.A1925G:p.H642R,R3HCC1L:NM_138469:exon6:c.A1925G:p.H642R,R3HCC1L:NM_001256619:exon7:c.A1967G:p.H656R,R3HCC1L:NM_001351011:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351014:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351010:exon8:c.A1925G:p.H642R
10 101473218 2 COX15 A G exonic nonsynonymous SNV COX15:NM_004376:exon9:c.T1120C:p.F374L RS2231687 Premature ovarian failure:2 hour glucose:LDL cholesterol:Height:Systolic blood pressure (SBP)
10 101544447 2 ABCC2 A T exonic nonsynonymous SNV ABCC2:NM_000392:exon2:c.A116T:p.Y39F
10 104136469 2 GBF1 T C exonic synonymous SNV GBF1:NM_001199378:exon32:c.T4200C:p.I1400I,GBF1:NM_001199379:exon32:c.T4197C:p.I1399I,GBF1:NM_004193:exon32:c.T4197C:p.I1399I
10 104159196 2 NFKB2 A G exonic synonymous SNV NFKB2:NM_001261403:exon12:c.A1269G:p.P423P,NFKB2:NM_001322935:exon12:c.A1143G:p.P381P,NFKB2:NM_001077494:exon13:c.A1269G:p.P423P,NFKB2:NM_001288724:exon13:c.A1269G:p.P423P,NFKB2:NM_001322934:exon13:c.A1269G:p.P423P,NFKB2:NM_002502:exon13:c.A1269G:p.P423P
10 104160434 2 NFKB2 A G exonic synonymous SNV NFKB2:NM_001261403:exon16:c.A1821G:p.A607A,NFKB2:NM_001322935:exon16:c.A1695G:p.A565A,NFKB2:NM_001077494:exon17:c.A1821G:p.A607A,NFKB2:NM_001288724:exon17:c.A1821G:p.A607A,NFKB2:NM_001322934:exon17:c.A1821G:p.A607A,NFKB2:NM_002502:exon17:c.A1821G:p.A607A
10 105361816 2 SH3PXD2A T G exonic synonymous SNV SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I
10 105362209 2 SH3PXD2A T C exonic synonymous SNV SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K RS4917396 Fasting blood glucose:Microalbuminuria:Urinary albumin-to-creatinine ratio:Parkinson's disease
10 105657316 2 STN1 G C exonic nonsynonymous SNV STN1:NM_024928:exon7:c.C743G:p.S248C RS10786775 Height in controls:HOMA-B:Fasting insulin:HOMA-IR:Leukocyte telomere length:HDL cholesterol:Triglycerides:Height:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Parkinson's disease:College completion:Coronary artery disease (CAD)
10 105657363 2 STN1 C G exonic synonymous SNV STN1:NM_024928:exon7:c.G696C:p.V232V RS11191853 Total cholesterol
10 105659826 2 STN1 T C exonic nonsynonymous SNV STN1:NM_024928:exon5:c.A451G:p.T151A RS2487999 Spine bone mineral density (BMD):Differential exon level expression of OBFC1 [probe 3305032] in brain cortex:HOMA-B:Fasting insulin:HOMA-IR:Leukocyte telomere length:HDL cholesterol:Height:Gene expression of OBFC1 [probe ILMN_29568] in osteoblasts treated with bmp:Relative telomere length:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Bipolar disorder:College completion:Parkinson's disease:Coronary artery disease (CAD)
10 106022789 2 GSTO1 C A exonic nonsynonymous SNV GSTO1:NM_001191003:exon4:c.C335A:p.A112D,GSTO1:NM_004832:exon4:c.C419A:p.A140D RS4925 Gene expression of GSTO2 probe [GI_38016130-S] in brain cortex with no Alzheimer's interaction:Major depressive disorder:HDL cholesterol change with statins:Neuroblastoma (brain cancer):Gene expression of GSTO1 in blood:Gene expression of ITPRIP in blood:Gene expression of GSTO2 in blood:Bipolar disorder:Gene expression of GSTO2 in liver:Gene expression of C10orf79 (ENSG00000197748) in dendritic cells:Paternal transmission distortion:Transmission distortion:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in non-Alzheimer's disease samples:Gene expression of GSTO2 (probeID ILMN_1740234) in cerebellum in Alzheimer's disease cases:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Alzheimer's disease cases:Gene expression change of ITPRIP (ENSG00000148841) in dendritic cells after treatment with Mycobacterium tuberculosis
10 112266822 2 DUSP5 G A exonic nonsynonymous SNV DUSP5:NM_004419:exon3:c.G658A:p.A220T
10 112266823 2 DUSP5 C T exonic nonsynonymous SNV DUSP5:NM_004419:exon3:c.C659T:p.A220V
10 112361870 2 SMC3 A G exonic synonymous SNV SMC3:NM_005445:exon25:c.A3039G:p.S1013S RS2419565 Urinary albumin-to-creatinine ratio:Microalbuminuria
10 112641053 2 PDCD4 A G exonic nonsynonymous SNV PDCD4:NM_001199492:exon3:c.A64G:p.I22V,PDCD4:NM_014456:exon3:c.A106G:p.I36V,PDCD4:NM_145341:exon4:c.A73G:p.I25V RS7081726 Gene expression of PDCD4 (probeID ILMN_2396272) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PDCD4 (probeID ILMN_2396272) in temporal cortex in Alzheimer's disease cases and controls:Transmission distortion:Adiponectin levels
10 113917085 2 GPAM T A exonic synonymous SNV GPAM:NM_001244949:exon19:c.A2043T:p.P681P,GPAM:NM_020918:exon19:c.A2043T:p.P681P RS2254537 HDL cholesterol:Triglycerides:LDL cholesterol:Fasting blood glucose:Triglycerides:Total cholesterol:HDL cholesterol:LDL cholesterol
10 113940329 2 GPAM T C exonic nonsynonymous SNV GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V RS2792751 Triglycerides:HDL cholesterol:LDL cholesterol:Triglycerides:HDL cholesterol:Total cholesterol:LDL cholesterol:Sporadic Creutzfeldt-Jakob disease:Gene expression of GPAM in normal prepouch ileum
10 116307504 2 ABLIM1 A G exonic synonymous SNV ABLIM1:NM_001003407:exon5:c.T525C:p.N175N,ABLIM1:NM_001003408:exon5:c.T525C:p.N175N,ABLIM1:NM_001322882:exon5:c.T525C:p.N175N,ABLIM1:NM_001322883:exon5:c.T525C:p.N175N,ABLIM1:NM_001322884:exon5:c.T474C:p.N158N,ABLIM1:NM_001322885:exon5:c.T474C:p.N158N,ABLIM1:NM_001322886:exon5:c.T474C:p.N158N,ABLIM1:NM_001322887:exon5:c.T525C:p.N175N,ABLIM1:NM_002313:exon5:c.T705C:p.N235N RS2247528 HDL cholesterol:Body mass index (BMI):Refractive error
10 116335246 2 ABLIM1 G A exonic synonymous SNV ABLIM1:NM_001003407:exon3:c.C312T:p.F104F,ABLIM1:NM_001003408:exon3:c.C312T:p.F104F,ABLIM1:NM_001322882:exon3:c.C312T:p.F104F,ABLIM1:NM_001322883:exon3:c.C312T:p.F104F,ABLIM1:NM_001322884:exon3:c.C261T:p.F87F,ABLIM1:NM_001322885:exon3:c.C261T:p.F87F,ABLIM1:NM_001322886:exon3:c.C261T:p.F87F,ABLIM1:NM_001322887:exon3:c.C312T:p.F104F,ABLIM1:NM_002313:exon3:c.C492T:p.F164F RS985273 Comorbid depressive syndrome and alcohol dependence
10 119768551 2 RAB11FIP2 C T exonic synonymous SNV RAB11FIP2:NM_014904:exon5:c.G1497A:p.P499P,RAB11FIP2:NM_001330167:exon6:c.G1557A:p.P519P RS7923321 Systolic blood pressure (SBP):Obesity with early age of onset (age >2)
10 120933324 2 PRDX3 G A exonic synonymous SNV PRDX3:NM_001302272:exon4:c.C372T:p.D124D,PRDX3:NM_006793:exon4:c.C372T:p.D124D
10 122663585 2 WDR11 G A exonic synonymous SNV WDR11:NM_018117:exon24:c.G2958A:p.L986L
10 123596254 2 ATE1 T C exonic synonymous SNV ATE1:NM_001288735:exon8:c.A948G:p.S316S,ATE1:NM_001288734:exon9:c.A891G:p.S297S,ATE1:NM_001001976:exon10:c.A1236G:p.S412S,ATE1:NM_001288736:exon10:c.A1215G:p.S405S,ATE1:NM_007041:exon10:c.A1236G:p.S412S RS4237536 Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 123673339 2 ATE1 T C exonic synonymous SNV ATE1:NM_001288735:exon2:c.A15G:p.L5L,ATE1:NM_001001976:exon4:c.A303G:p.L101L,ATE1:NM_001288736:exon4:c.A282G:p.L94L,ATE1:NM_007041:exon4:c.A303G:p.L101L RS10749435 Resistance to kuru in aged women despite likely exposure:Aortic valve calcium:Duodenal ulcer:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 126172863 2 LHPP A G exonic nonsynonymous SNV LHPP:NM_001167880:exon2:c.A281G:p.Q94R,LHPP:NM_001318331:exon2:c.A281G:p.Q94R,LHPP:NM_001318332:exon2:c.A281G:p.Q94R,LHPP:NM_022126:exon2:c.A281G:p.Q94R RS6597801 Stabilized warfarin dose:Rheumatoid arthritis:Major depressive disorder (broad definition) (males):Waist hip ratio:Gene expression of LHPP in blood:College completion
10 126517989 2 ABRAXAS2 G A exonic synonymous SNV ABRAXAS2:NM_032182:exon7:c.G606A:p.V202V RS2303611 Gene expression of hmm665 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of METTL10 [probe 226631_at] in lymphoblastoid cell lines:Gene expression of METTL10 [probe 226634_at] in lymphoblastoid cell lines:2 hour glucose:Fasting insulin:HOMA-B:Serum creatinine:Height
10 134161633 2 LRRC27 A G exonic synonymous SNV LRRC27:NM_001309474:exon5:c.A318G:p.P106P,LRRC27:NM_001143757:exon6:c.A699G:p.P233P,LRRC27:NM_001143758:exon6:c.A699G:p.P233P,LRRC27:NM_001143759:exon6:c.A699G:p.P233P,LRRC27:NM_030626:exon6:c.A699G:p.P233P
10 135097434 2 TUBGCP2 A G exonic synonymous SNV TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F
10 135098672 2 TUBGCP2 G A exonic synonymous SNV TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y RS3008334 Gene expression of TUBGCP2 in peripheral blood monocytes
10 135165790 2 PRAP1 A G exonic nonsynonymous SNV PRAP1:NM_001145201:exon5:c.A275G:p.H92R,PRAP1:NM_145202:exon5:c.A302G:p.H101R
10 135180430 2 ECHS1 A G exonic synonymous SNV ECHS1:NM_004092:exon5:c.T582C:p.T194T
10 135184126 2 ECHS1 G A exonic nonsynonymous SNV ECHS1:NM_004092:exon2:c.C224T:p.T75I RS1049951 LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Hypertension (early onset hypertension):Adiponectin levels:Refractive error:Salmonella-induced pyroptosis
10 135186806 2 ECHS1 A G exonic nonsynonymous SNV ECHS1:NM_004092:exon1:c.T32C:p.V11A
10 135233541 2 MTG1 A G exonic nonsynonymous SNV MTG1:NM_138384:exon11:c.A877G:p.I293V
10 138897130 2
11 308290 2 IFITM2 T C exonic nonsynonymous SNV IFITM2:NM_006435:exon1:c.T98C:p.V33A RS1058900 HOMA-B:Fasting insulin:Serum creatinine:Infant head circumference
11 308314 2 IFITM2 T C exonic nonsynonymous SNV IFITM2:NM_006435:exon1:c.T122C:p.M41T RS14408 Serum creatinine:HDL cholesterol:Infant head circumference
11 308363 2 IFITM2 G C exonic synonymous SNV IFITM2:NM_006435:exon1:c.G171C:p.V57V
11 314207 2 IFITM1 C G exonic nonsynonymous SNV IFITM1:NM_003641:exon1:c.C37G:p.P13A
11 400109 2 PKP3 A G exonic synonymous SNV PKP3:NM_007183:exon6:c.A1416G:p.A472A,PKP3:NM_001303029:exon7:c.A1461G:p.A487A
11 406473 2 SIGIRR A C exonic synonymous SNV SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P RS3087588 Gene expression of SIGIRR (ENSG00000185187) in dendritic cells treated with Mycobacterium tuberculosis
11 406483 2 SIGIRR T C exonic nonsynonymous SNV SIGIRR:NM_001135053:exon9:c.A935G:p.Q312R,SIGIRR:NM_001135054:exon9:c.A935G:p.Q312R,SIGIRR:NM_021805:exon9:c.A935G:p.Q312R RS3210908 Gene expression of SIGIRR [probe 52940_at] in lymphoblastoid cell lines:HDL cholesterol change with statins:Postoperative nausea and vomiting:Gene expression of SIGIRR in blood:College completion
11 556521 2 LMNTD2 C G exonic synonymous SNV LMNTD2:NM_173573:exon9:c.G1044C:p.P348P
11 557989 2 LMNTD2 C T exonic synonymous SNV LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q
11 771034 2 GATD1 A G exonic synonymous SNV GATD1:NM_001318822:exon5:c.T357C:p.T119T,GATD1:NM_001318818:exon6:c.T465C:p.T155T,GATD1:NM_001318820:exon6:c.T507C:p.T169T,GATD1:NM_001318823:exon6:c.T465C:p.T155T,GATD1:NM_001318824:exon6:c.T507C:p.T169T,GATD1:NM_001318821:exon7:c.T615C:p.T205T,GATD1:NM_182612:exon7:c.T615C:p.T205T RS7930569 Alcohol dependence:Gene expression of NS3BP in normal prepouch ileum
11 824789 2 PNPLA2 T C exonic nonsynonymous SNV PNPLA2:NM_020376:exon10:c.T1442C:p.L481P
11 830670 2 CRACR2B G T exonic nonsynonymous SNV CRACR2B:NM_001286606:exon6:c.G743T:p.S248I,CRACR2B:NM_173584:exon6:c.G743T:p.S248I RS4075289 Gene expression of CD151 in CEU lymphoblastoid cell lines:Gene expression of CD151 in lymphoblastoid cell lines:HOMA-B:Cystatin C in serum:Methylation levels at chr11:831376-831426 [hg18 coord, probe cg11173246] in Temporal cortex:Methylation levels at chr11:831285-831335 [hg18 coord, probe cg03116740] in Temporal cortex:Body mass index (BMI):Gene expression of CD151 [transcript NM_139029, probe A_23_P95470] in liver:Gene expression of CD151 in normal prepouch ileum:Gene expression of CD151 (probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CD151 (ENSG00000177697) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of CD151 (probeID ILMN_1661589) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID ILMN_1794740) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum in Alzheimer's disease cases and controls
11 837582 2 CD151 G A exonic synonymous SNV CD151:NM_001039490:exon6:c.G579A:p.G193G,CD151:NM_139030:exon6:c.G579A:p.G193G,CD151:NM_004357:exon7:c.G579A:p.G193G,CD151:NM_139029:exon7:c.G579A:p.G193G RS1130663 Gene expression of CD151 (ENSG00000177697) in dendritic cells:Gene expression of CD151 in normal prepouch ileum
11 840477 2 POLR2L A G exonic synonymous SNV POLR2L:NM_021128:exon2:c.T99C:p.D33D
11 862652 2 TSPAN4 T C exonic synonymous SNV TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L
11 903070 2 CHID1 G C exonic synonymous SNV CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V
11 1501670 2 MOB2 G C exonic synonymous SNV MOB2:NM_001172223:exon3:c.C318G:p.S106S RS10742185 Obesity with early age of onset (age >2)
11 1502097 2 MOB2 A G exonic synonymous SNV MOB2:NM_001172223:exon2:c.T129C:p.P43P
11 2424684 2 TSSC4 A C exonic nonsynonymous SNV TSSC4:NM_001297659:exon3:c.A821C:p.H274P,TSSC4:NM_005706:exon3:c.A821C:p.H274P,TSSC4:NM_001297658:exon4:c.A821C:p.H274P,TSSC4:NM_001297660:exon4:c.A821C:p.H274P,TSSC4:NM_001297661:exon4:c.A629C:p.H210P
11 5700340 2 TRIM5 T C exonic synonymous SNV TRIM5:NM_033034:exon3:c.A477G:p.L159L,TRIM5:NM_033092:exon3:c.A477G:p.L159L,TRIM5:NM_033093:exon3:c.A477G:p.L159L RS3740995 Total cholesterol:Triglycerides:Parkinson's disease
11 6411935 2 SMPD1 T C exonic nonsynonymous SNV SMPD1:NM_000543:exon1:c.T107C:p.V36A,SMPD1:NM_001007593:exon1:c.T107C:p.V36A,SMPD1:NM_001318087:exon1:c.T107C:p.V36A
11 6622714 2 RRP8 G A exonic synonymous SNV RRP8:NM_015324:exon3:c.C582T:p.N194N RS2288283 Differential exon level expression of KIAA0409 [probe 3361014] in brain cortex:Premature ovarian failure:Triglycerides:Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease
11 7670440 2 PPFIBP2 A G exonic nonsynonymous SNV PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G
11 7673015 2 PPFIBP2 G A exonic synonymous SNV PPFIBP2:NM_001256569:exon19:c.G1947A:p.E649E,PPFIBP2:NM_001256568:exon20:c.G2040A:p.E680E,PPFIBP2:NM_003621:exon23:c.G2376A:p.E792E RS5864 Gene expression of CYB5R2 in peripheral blood monocytes:Biploar disorder (bipolar affective disorder with comorbid migraine):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
11 7687715 2 CYB5R2 T C exonic nonsynonymous SNV CYB5R2:NM_001302826:exon8:c.A625G:p.N209D,CYB5R2:NM_016229:exon8:c.A625G:p.N209D RS12801394 HDL cholesterol:Chronic kidney disease:Microalbuminuria:Gene expression of PPFIBP2 in blood:Gene expression of CYB5R2 in blood:Advanced age-related macular degeneration (geographic atrophy)
11 9406349 2 IPO7 T C exonic synonymous SNV IPO7:NM_006391:exon1:c.T39C:p.T13T
11 9754221 2 SWAP70 C T exonic synonymous SNV SWAP70:NM_001297714:exon6:c.C870T:p.N290N,SWAP70:NM_015055:exon7:c.C1044T:p.N348N RS360157 Total cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD)
11 9769562 2 SWAP70 C G exonic nonsynonymous SNV SWAP70:NM_001297714:exon9:c.C1339G:p.Q447E,SWAP70:NM_015055:exon10:c.C1513G:p.Q505E RS415895 Total cholesterol:Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD)
11 10529739 2 MTRNR2L8 G A exonic nonsynonymous SNV MTRNR2L8:NM_001190702:exon1:c.C35T:p.S12L
11 10822350 2 EIF4G2 C T exonic synonymous SNV EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P
11 11913585 2 USP47 G T exonic nonsynonymous SNV USP47:NM_017944:exon3:c.G224T:p.G75V,USP47:NM_001282659:exon4:c.G428T:p.G143V,USP47:NM_001330208:exon5:c.G488T:p.G163V RS11022079 Barnes Akathisia Rating Scale:HDL cholesterol:Waist hip ratio:Adiponectin levels
11 11986061 2 DKK3 T C exonic nonsynonymous SNV DKK3:NM_001018057:exon7:c.A1003G:p.R335G,DKK3:NM_001330220:exon8:c.A1045G:p.R349G,DKK3:NM_013253:exon8:c.A1003G:p.R335G,DKK3:NM_015881:exon8:c.A1003G:p.R335G RS3206824 Body mass index (BMI):Adolescent idiopathic scoliosis:Infant head circumference
11 17172133 2 PIK3C2A T C exonic synonymous SNV PIK3C2A:NM_001321380:exon3:c.A99G:p.A33A,PIK3C2A:NM_002645:exon4:c.A1239G:p.A413A,PIK3C2A:NM_001321378:exon5:c.A1239G:p.A413A
11 18424451 2 LDHA C T exonic synonymous SNV LDHA:NM_001135239:exon4:c.C309T:p.S103S,LDHA:NM_001165414:exon5:c.C570T:p.S190S,LDHA:NM_001165415:exon5:c.C483T:p.S161S,LDHA:NM_001165416:exon5:c.C483T:p.S161S,LDHA:NM_005566:exon5:c.C483T:p.S161S
11 18424487 2 LDHA A G exonic synonymous SNV LDHA:NM_001135239:exon4:c.A345G:p.L115L,LDHA:NM_001165414:exon5:c.A606G:p.L202L,LDHA:NM_001165415:exon5:c.A519G:p.L173L,LDHA:NM_001165416:exon5:c.A519G:p.L173L,LDHA:NM_005566:exon5:c.A519G:p.L173L
11 20065779 2 NAV2 C G exonic nonsynonymous SNV NAV2:NM_001111019:exon4:c.C418G:p.P140A,NAV2:NM_001111018:exon13:c.C2968G:p.P990A,NAV2:NM_145117:exon13:c.C3160G:p.P1054A,NAV2:NM_182964:exon13:c.C3160G:p.P1054A,NAV2:NM_001244963:exon14:c.C3229G:p.P1077A
11 20067064 2 NAV2 C T exonic synonymous SNV NAV2:NM_001111019:exon5:c.C1008T:p.D336D,NAV2:NM_001111018:exon14:c.C3558T:p.D1186D,NAV2:NM_145117:exon14:c.C3750T:p.D1250D,NAV2:NM_182964:exon14:c.C3750T:p.D1250D,NAV2:NM_001244963:exon15:c.C3819T:p.D1273D RS7125647 Triglycerides change with statins:Waist hip ratio
11 20099112 2 NAV2 A T exonic synonymous SNV NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A RS4757028 PROP taste detection threshold
11 20101704 2 NAV2 C T exonic synonymous SNV NAV2:NM_001111019:exon15:c.C2466T:p.S822S,NAV2:NM_001111018:exon25:c.C5082T:p.S1694S,NAV2:NM_145117:exon25:c.C5274T:p.S1758S,NAV2:NM_182964:exon25:c.C5274T:p.S1758S,NAV2:NM_001244963:exon27:c.C5442T:p.S1814S
11 20124914 2 NAV2 A C exonic synonymous SNV NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G
11 20529886 2 PRMT3 G A exonic nonsynonymous SNV PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N
11 21154569 2
11 27390089 2 LGR4 T C exonic synonymous SNV LGR4:NM_001346432:exon17:c.A2109G:p.K703K,LGR4:NM_018490:exon18:c.A2181G:p.K727K
11 32954344 2 QSER1 G A exonic nonsynonymous SNV QSER1:NM_001076786:exon4:c.G1153A:p.V385I
11 32956244 2 QSER1 A G exonic nonsynonymous SNV QSER1:NM_001076786:exon4:c.A3053G:p.N1018S
11 34152939 2 NAT10 T C exonic nonsynonymous SNV NAT10:NM_001144030:exon12:c.T1165C:p.Y389H,NAT10:NM_024662:exon14:c.T1381C:p.Y461H
11 34154641 2 NAT10 C T exonic synonymous SNV NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P
11 34938265 2 PDHX C T exonic synonymous SNV PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P
11 34991727 2 PDHX T C exonic synonymous SNV PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V RS497582 Gene expression of MMRP19 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:Total cholesterol:Birth weight:Adiponectin levels
11 45935384 2 PEX16 A G exonic synonymous SNV PEX16:NM_004813:exon9:c.T873C:p.Y291Y,PEX16:NM_057174:exon9:c.T873C:p.Y291Y RS1132349 Acute lung injury following major trauma
11 45937267 2 PEX16 C T exonic nonsynonymous SNV PEX16:NM_004813:exon4:c.G346A:p.V116I,PEX16:NM_057174:exon4:c.G346A:p.V116I
11 45975130 2 PHF21A C T exonic nonsynonymous SNV PHF21A:NM_001101802:exon10:c.G1040A:p.R347H,PHF21A:NM_016621:exon10:c.G1043A:p.R348H RS3736508 Cystatin C in serum:Chronic kidney disease:HDL cholesterol:Birth weight:College completion
11 46890165 2 LRP4 C T exonic nonsynonymous SNV LRP4:NM_002334:exon33:c.G4937A:p.R1646Q RS3816614 HDL cholesterol:Stroke (all types):HDL cholesterol:Methylation levels at chr11:46914334-46914384 [hg18 coord, probe cg26198807] in Temporal cortex:Triglycerides:HDL cholesterol
11 46898771 2 LRP4 T C exonic nonsynonymous SNV LRP4:NM_002334:exon23:c.A3256G:p.I1086V RS6485702 Hip bone mineral density (BMD):HDL cholesterol:Low trauma fracture:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Gene expression of probeset 3329470 in lymphoblastoid cell lines:Gene expression of probeset 3371792 in osteoblasts:Lumbar spine bone mineral density (BMD):Femoral neck bone mineral density (BMD):Fasting blood glucose:LDL cholesterol:Total cholesterol:Triglycerides:HDL cholesterol:Total hip bone mineral density (BMD) (postmenopausal females):Aortic valve calcium
11 46914583 2 LRP4 T C exonic synonymous SNV LRP4:NM_002334:exon13:c.A1638G:p.K546K
11 46914598 2 LRP4 A G exonic synonymous SNV LRP4:NM_002334:exon13:c.T1623C:p.D541D
11 47188314 2 ARFGAP2 T C exonic synonymous SNV ARFGAP2:NM_001242832:exon12:c.A1245G:p.A415A,ARFGAP2:NM_032389:exon13:c.A1329G:p.A443A
11 47238522 2 DDB2 T C exonic synonymous SNV DDB2:NM_000107:exon3:c.T378C:p.T126T,DDB2:NM_001300734:exon3:c.T378C:p.T126T
11 47298360 2 MADD G A exonic synonymous SNV MADD:NM_001135943:exon5:c.G1041A:p.E347E,MADD:NM_001135944:exon5:c.G1041A:p.E347E,MADD:NM_003682:exon5:c.G1041A:p.E347E,MADD:NM_130470:exon5:c.G1041A:p.E347E,MADD:NM_130471:exon5:c.G1041A:p.E347E,MADD:NM_130472:exon5:c.G1041A:p.E347E,MADD:NM_130473:exon5:c.G1041A:p.E347E,MADD:NM_130474:exon5:c.G1041A:p.E347E,MADD:NM_130475:exon5:c.G1041A:p.E347E,MADD:NM_130476:exon5:c.G1041A:p.E347E RS326214 HDL cholesterol:Fasting blood glucose:HOMA-B:Total cholesterol:Triglycerides:HDL cholesterol:Body mass index (BMI):College completion:Refractive error
11 47303275 2 MADD T C exonic synonymous SNV MADD:NM_001135943:exon8:c.T1440C:p.N480N,MADD:NM_001135944:exon8:c.T1440C:p.N480N,MADD:NM_003682:exon8:c.T1440C:p.N480N,MADD:NM_130470:exon8:c.T1440C:p.N480N,MADD:NM_130471:exon8:c.T1440C:p.N480N,MADD:NM_130472:exon8:c.T1440C:p.N480N,MADD:NM_130473:exon8:c.T1440C:p.N480N,MADD:NM_130474:exon8:c.T1440C:p.N480N,MADD:NM_130475:exon8:c.T1440C:p.N480N,MADD:NM_130476:exon8:c.T1440C:p.N480N RS326217 Gene expression of Hs.6637 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Schizophrenia:APOA1 assay lipoprotein fraction concentration:HDL cholesterol:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Gene expression of SPI1///AC090582.9 in blood:Gene expression of MADD///MYBPC3 in blood:Gene expression of DDB2///ACP2 in blood:Gene expression of SPI1 in blood:Gene expression of NR1H3///MADD in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Primary rhegmatogenous retinal detachment:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of MADD (ENSG00000110514) in dendritic cells treated with Mycobacterium tuberculosis:Transmission distortion
11 47331116 2 MADD T C exonic synonymous SNV MADD:NM_001135943:exon25:c.T3802C:p.L1268L,MADD:NM_001135944:exon25:c.T3793C:p.L1265L,MADD:NM_130470:exon25:c.T3934C:p.L1312L,MADD:NM_130472:exon25:c.T3805C:p.L1269L,MADD:NM_130474:exon25:c.T3805C:p.L1269L,MADD:NM_130476:exon25:c.T3931C:p.L1311L,MADD:NM_130471:exon26:c.T3865C:p.L1289L,MADD:NM_130473:exon26:c.T3994C:p.L1332L,MADD:NM_003682:exon28:c.T4111C:p.L1371L,MADD:NM_130475:exon28:c.T4111C:p.L1371L
11 47431728 2 SLC39A13 A G exonic nonsynonymous SNV SLC39A13:NM_001128225:exon2:c.A83G:p.E28G,SLC39A13:NM_001330245:exon2:c.A83G:p.E28G,SLC39A13:NM_152264:exon2:c.A83G:p.E28G
11 47640429 2 MTCH2 G C exonic nonsynonymous SNV MTCH2:NM_001317232:exon12:c.C841G:p.P281A,MTCH2:NM_001317233:exon12:c.C424G:p.P142A,MTCH2:NM_014342:exon13:c.C868G:p.P290A RS1064608 Gene expression of Hs.6637 in CHB lymphoblastoid cell lines:Gene expression of FNBP4 [probe 229272_at] in lymphoblastoid cell lines:Chronic kidney disease:Serum creatinine:Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Height:Body mass index (BMI):Systolic blood pressure (SBP):Adiponectin levels:Birth weight:Gene expression of C1QTNF4 (probeID ILMN_2195462) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C1QTNF4 (probeID ILMN_2195462) in cerebellum in Alzheimer's disease cases:Gene expression of C1QTNF4 (probeID ILMN_2195462) in cerebellum in non-Alzheimer's disease samples:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of MTCH2 (ENSG00000109919) in dendritic cells treated with Mycobacterium tuberculosis
11 48145247 2 PTPRJ T C exonic synonymous SNV PTPRJ:NM_001098503:exon5:c.T699C:p.T233T,PTPRJ:NM_002843:exon5:c.T699C:p.T233T RS2270992 Serum creatinine:Chronic kidney disease:HDL cholesterol:Height
11 57077464 1 TNKS1BP1 T C exonic synonymous SNV TNKS1BP1:NM_033396:exon6:c.A2721G:p.Q907Q RS10896602 Gene expression of P2RX3 (ENSG00000109991) in dendritic cells treated with Mycobacterium tuberculosis
11 57571232 2 CTNND1 C T exonic synonymous SNV CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H
11 60689445 2 TMEM109 T C exonic synonymous SNV TMEM109:NM_024092:exon4:c.T540C:p.P180P RS555835 Differential exon level expression of TMEM132A [probe 3332643] in brain cortex:Total cholesterol:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal cortex:Gene expression of TMEM109 in blood:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension):Myopia:Primary rhegmatogenous retinal detachment:Gene expression of MS4A10 in normal prepouch ileum
11 60899767 2 VPS37C A G exonic nonsynonymous SNV VPS37C:NM_017966:exon5:c.T593C:p.L198S RS754382 Spine bone mineral density (BMD):Fasting blood glucose:HDL cholesterol:Gene expression of CD6 in blood:Gene expression of [probe 1260762 centered at chr11:60755878] in blood:Gene expression of CD5 in blood:Serum PUFA:Serum LA/PUFA
11 61106892 2 TKFC G C exonic synonymous SNV TKFC:NM_015533:exon5:c.G471C:p.T157T
11 61112802 2 TKFC C T exonic synonymous SNV TKFC:NM_015533:exon14:c.C1311T:p.V437V
11 61165280 2 TMEM216 G A exonic synonymous SNV TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P RS3741265 Irritible bowel syndrome:Gene expression of PGA5 in peripheral blood monocytes:Gene expression of PGA3 in peripheral blood monocytes:Gene expression of RFT1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Mitral annular calcium
11 61165741 2 TMEM216;TMEM216 G C exonic;splicing nonsynonymous SNV TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T RS10897158 Irritible bowel syndrome
11 61179285 2 CPSF7 G A exonic synonymous SNV CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I
11 61906374 2 INCENP T C exonic synonymous SNV INCENP:NM_001040694:exon7:c.T1188C:p.N396N,INCENP:NM_020238:exon7:c.T1188C:p.N396N RS1675126 Total cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 62292882 2 AHNAK G T exonic nonsynonymous SNV AHNAK:NM_001346445:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001346446:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001620:exon5:c.C9007A:p.Q3003K RS566144 Chronic kidney disease:Urinary albumin-to-creatinine ratio
11 62381106 2 ROM1 G C exonic nonsynonymous SNV ROM1:NM_000327:exon1:c.G353C:p.G118A
11 62439569 2 UQCC3 G A exonic nonsynonymous SNV UQCC3:NM_001085372:exon2:c.G265A:p.G89S RS13941 Triglycerides change with statins:HDL cholesterol change with statins:Waist hip ratio:Gene expression of EEF1G (probeID ILMN_2262288) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of EEF1G (probeID ILMN_2262288) in cerebellum in Alzheimer's disease cases and controls
11 63313644 2 RARRES3 T C exonic synonymous SNV RARRES3:NM_004585:exon4:c.T411C:p.V137V
11 63487386 2 RTN3 T C exonic nonsynonymous SNV RTN3:NM_001265590:exon2:c.T1076C:p.V359A,RTN3:NM_201428:exon2:c.T1355C:p.V452A,RTN3:NM_001265589:exon3:c.T1412C:p.V471A RS542998 Rheumatoid arthritis:Gene expression of PLA2G16 in blood:Maternal transmission distortion:Tetrology of fallot:Transmission distortion
11 63679369 2 RCOR2 T C exonic nonsynonymous SNV RCOR2:NM_173587:exon12:c.A1540G:p.T514A
11 63681513 2 RCOR2 T C exonic synonymous SNV RCOR2:NM_173587:exon8:c.A804G:p.E268E
11 63997329 2 NUDT22 A G exonic nonsynonymous SNV NUDT22:NM_001128613:exon5:c.A680G:p.Q227R,NUDT22:NM_001271831:exon5:c.A680G:p.Q227R,NUDT22:NM_001128612:exon6:c.A779G:p.Q260R,NUDT22:NM_032344:exon6:c.A779G:p.Q260R
11 63997338 2 NUDT22 T C exonic nonsynonymous SNV NUDT22:NM_001128613:exon5:c.T689C:p.L230P,NUDT22:NM_001271831:exon5:c.T689C:p.L230P,NUDT22:NM_001128612:exon6:c.T788C:p.L263P,NUDT22:NM_032344:exon6:c.T788C:p.L263P
11 64022459 2 PLCB3 A G exonic synonymous SNV PLCB3:NM_001184883:exon2:c.A135G:p.P45P,PLCB3:NM_000932:exon4:c.A336G:p.P112P,PLCB3:NM_001316314:exon4:c.A336G:p.P112P
11 64085785 2 PRDX5 A G exonic nonsynonymous SNV PRDX5:NM_012094:exon1:c.A98G:p.Y33C,PRDX5:NM_181651:exon1:c.A98G:p.Y33C,PRDX5:NM_181652:exon1:c.A98G:p.Y33C
11 64572018 2 MEN1 T C exonic nonsynonymous SNV MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A
11 64572557 2 MEN1 A G exonic synonymous SNV MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H
11 64621856 2 EHD1 A G exonic synonymous SNV EHD1:NM_006795:exon5:c.T1554C:p.P518P,EHD1:NM_001282445:exon6:c.T1596C:p.P532P,EHD1:NM_001282444:exon7:c.T1554C:p.P518P
11 64677293 2 ATG2A G C exonic nonsynonymous SNV ATG2A:NM_015104:exon14:c.C1967G:p.P656R
11 64809090 2 SAC3D1 T G exonic nonsynonymous SNV SAC3D1:NM_013299:exon1:c.T326G:p.L109R
11 64809133 2 SAC3D1 T G exonic synonymous SNV SAC3D1:NM_013299:exon1:c.T369G:p.A123A
11 64809167 2 SAC3D1 A G exonic nonsynonymous SNV SAC3D1:NM_013299:exon1:c.A403G:p.T135A
11 64880090 2 TM7SF2 G C exonic synonymous SNV TM7SF2:NM_001277233:exon2:c.G156C:p.P52P,TM7SF2:NM_003273:exon2:c.G156C:p.P52P
11 64884052 2 ZNHIT2 G A exonic synonymous SNV ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A
11 65144075 2 SLC25A45 T C exonic nonsynonymous SNV SLC25A45:NM_001278250:exon5:c.A598G:p.M200V,SLC25A45:NM_001300820:exon5:c.A484G:p.M162V,SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V,SLC25A45:NM_001278251:exon10:c.A544G:p.M182V RS624307 Salmonella-induced pyroptosis
11 65347636 2 EHBP1L1 G C exonic nonsynonymous SNV EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L,EHBP1L1:NM_001351087:exon5:c.G397C:p.V133L
11 65349849 2 EHBP1L1 A T exonic nonsynonymous SNV EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V
11 65383896 2 PCNX3 G C exonic synonymous SNV PCNX3:NM_032223:exon1:c.G114C:p.V38V
11 65385606 2 PCNX3 A G exonic nonsynonymous SNV PCNX3:NM_032223:exon6:c.A773G:p.Q258R
11 65415028 2 SIPA1 T G exonic synonymous SNV SIPA1:NM_006747:exon9:c.T2205G:p.T735T,SIPA1:NM_153253:exon9:c.T2205G:p.T735T
11 65636053 2 EFEMP2 T C exonic nonsynonymous SNV EFEMP2:NM_016938:exon8:c.A775G:p.I259V
11 65664346 2 FOSL1 T C exonic synonymous SNV FOSL1:NM_001300844:exon2:c.A231G:p.Q77Q,FOSL1:NM_001300855:exon2:c.A231G:p.Q77Q,FOSL1:NM_005438:exon2:c.A231G:p.Q77Q
11 65685225 2 C11orf68 T C exonic nonsynonymous SNV C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R
11 66031660 1 KLC2 C T exonic synonymous SNV KLC2:NM_001134774:exon7:c.C855T:p.D285D,KLC2:NM_001134775:exon8:c.C1086T:p.D362D,KLC2:NM_001134776:exon8:c.C1086T:p.D362D,KLC2:NM_001318734:exon8:c.C1086T:p.D362D,KLC2:NM_022822:exon8:c.C1086T:p.D362D RS1151539 Salmonella-induced pyroptosis
11 66099987 2 RIN1 C T exonic synonymous SNV RIN1:NM_004292:exon10:c.G2112A:p.A704A RS1784029 Total cholesterol change with statins:College completion:Years of education
11 66100152 2 RIN1 T C exonic synonymous SNV RIN1:NM_004292:exon10:c.A1947G:p.E649E
11 66107674 2 BRMS1 A G exonic synonymous SNV BRMS1:NM_001024957:exon7:c.T546C:p.D182D,BRMS1:NM_015399:exon7:c.T546C:p.D182D
11 66472274 2 SPTBN2 T C exonic nonsynonymous SNV SPTBN2:NM_006946:exon14:c.A2473G:p.S825G
11 66834252 2 RHOD C T exonic synonymous SNV RHOD:NM_014578:exon3:c.C264T:p.D88D RS2282502 HDL cholesterol:Height
11 66837965 2 RHOD T C exonic nonsynonymous SNV RHOD:NM_001300886:exon2:c.T202C:p.C68R,RHOD:NM_014578:exon4:c.T400C:p.C134R
11 66995603 2 KDM2A T C exonic synonymous SNV KDM2A:NM_012308:exon11:c.T1053C:p.T351T RS3741189 Gene expression of RPS6KB2 in JPT lymphoblastoid cell lines:Spine bone mineral density (BMD):LDL cholesterol:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio
11 67034266 2 GRK2 C A exonic synonymous SNV GRK2:NM_001619:exon1:c.C96A:p.I32I
11 67068859 2 ANKRD13D T C exonic synonymous SNV ANKRD13D:NM_207354:exon12:c.T1338C:p.V446V,ANKRD13D:NM_001347901:exon13:c.T1077C:p.V359V RS2298815 HDL cholesterol:Parkinson's disease:Acute lung injury following major trauma
11 67257823 2 AIP C A exonic nonsynonymous SNV AIP:NM_001302959:exon5:c.C505A:p.Q169K,AIP:NM_001302960:exon5:c.C682A:p.Q228K,AIP:NM_003977:exon5:c.C682A:p.Q228K
11 67258391 2 AIP A G exonic nonsynonymous SNV AIP:NM_001302959:exon6:c.A743G:p.Q248R,AIP:NM_003977:exon6:c.A920G:p.Q307R
11 67263767 2 PITPNM1 A G exonic synonymous SNV PITPNM1:NM_001130848:exon15:c.T2196C:p.A732A,PITPNM1:NM_004910:exon15:c.T2199C:p.A733A
11 67759254 1 UNC93B1 G C exonic unknown UNKNOWN
11 67789138 1 ALDH3B1 C T exonic unknown UNKNOWN RS2286168 Asthma
11 67793509 1 ALDH3B1 C T exonic unknown UNKNOWN RS2286163 HOMA-B:Diastolic blood pressure (DBP):Acute lung injury following major trauma
11 67814979 2 TCIRG1 G C exonic synonymous SNV TCIRG1:NM_006053:exon6:c.G597C:p.L199L,TCIRG1:NM_001351059:exon10:c.G351C:p.L117L,TCIRG1:NM_006019:exon11:c.G1245C:p.L415L
11 67957518 2 KMT5B A T exonic nonsynonymous SNV KMT5B:NM_001300909:exon2:c.T26A:p.I9N,KMT5B:NM_016028:exon2:c.T26A:p.I9N,KMT5B:NM_017635:exon2:c.T26A:p.I9N
11 68171013 2 LRP5 T C exonic synonymous SNV LRP5:NM_002335:exon8:c.T1647C:p.F549F RS545382 Triglycerides:Schizophrenia:Triglycerides:Late onset Alzheimer's disease:Primary rhegmatogenous retinal detachment
11 68192690 1 LRP5 G A exonic synonymous SNV LRP5:NM_001291902:exon15:c.G1614A:p.V538V,LRP5:NM_002335:exon15:c.G3357A:p.V1119V RS556442 Gene expression of probe 1559119_at in lymphoblastoid cell lines:HDL cholesterol
11 68201295 1 LRP5 C T exonic nonsynonymous SNV LRP5:NM_001291902:exon18:c.C2246T:p.A749V,LRP5:NM_002335:exon18:c.C3989T:p.A1330V RS3736228 Spine bone mineral density (BMD):Lumbar spine bone mineral density (BMD):Spine bone mineral density (BMD):Spine bone mineral density (BMD):Lumbar spine bone mineral density (BMD):Femoral neck bone mineral density (BMD):Femoral neck bone mineral density (BMD):Major depressive disorder:Gene expression of MTL5 in peripheral blood monocytes:Gene expression of CPT1A in peripheral blood monocytes:Gene expression of LHFPL2 in peripheral blood monocytes:Height:Child behavior checklist dysregulation profile in children with attention deficit/hyperactivity disorder (ADHD):Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Lumbar spine bone mineral density (BMD):Low-trauma fracture:Femoral neck bone mineral density (BMD) (premenopausal):Lumbar spine areal bone mineral density (BMD):Femoral neck areal bone mineral density (BMD):Lumbar spine bone mineral density  (BMD) (male):Femoral neck bone mineral density (BMD):Lumbar spine bone mineral density  (BMD) (female):SAPS3 gene expression in Whole blood:Major depressive disorder:Femoral neck bone mineral density (BMD) (males):Low-trauma fracture (nonvertebral fracture):SAPS3 gene expression in Adipose tissue:Femoral neck bone mineral density (BMD) (females):Lumbar spine bone mineral density (BMD) (premenopausal)
11 68549340 2 CPT1A A G exonic synonymous SNV CPT1A:NM_001031847:exon11:c.T1251C:p.F417F,CPT1A:NM_001876:exon11:c.T1251C:p.F417F RS2228502 Gene expression of CPT1A (probeID ILMN_1710052) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of CPT1A (probeID ILMN_1710052) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference
11 68822739 2 TPCN2 T C exonic synonymous SNV TPCN2:NM_139075:exon4:c.T348C:p.A116A
11 68840412 1 TPCN2 C G exonic synonymous SNV TPCN2:NM_139075:exon13:c.C1173G:p.L391L
11 68851466 1 TPCN2 G T exonic synonymous SNV TPCN2:NM_139075:exon19:c.G1743T:p.A581A RS896973 Gene expression of TPCN2 [probe 229250_at] in lymphoblastoid cell lines:Gene expression of TPCN2 in Frontal cortex:Height
11 68855363 1 TPCN2 G A exonic nonsynonymous SNV TPCN2:NM_139075:exon25:c.G2201A:p.G734E RS3829241 Gene expression of TPCN2 [probe 229250_at] in lymphoblastoid cell lines:Eye color:Hair color (blond versus brown):Skin sensitivity to sun:Differential exon level expression of TPCN2 [probe 3337957] in peripheral blood mononuclear cells:Differential exon level expression of TPCN2 [probe 3337957] in brain cortex:Differential exon level expression of TPCN2 [probe 3337975] in brain cortex:Risperidone response in schizophrenia treatment:Rheumatoid arthritis:Triglycerides:Total cholesterol:Height:Waist hip ratio:Gene expression of TPCN2 [probe ILMN_29131] in osteoblasts treated with BMP2:Suicide attempts in bipolar disorder (males):Gene expression of TPCN2 in blood:Comorbid depressive syndrome and alcohol dependence:Hair color
11 69478942 2
11 71146691 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon9:c.T1158C:p.D386D,DHCR7:NM_001360:exon9:c.T1158C:p.D386D RS760241 Triglycerides:HDL cholesterol:Infant head circumference:Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 666.4 m/z)
11 71152461 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N RS949177 Triglycerides:HDL cholesterol:Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Infant head circumference
11 71155153 2 DHCR7 A G exonic synonymous SNV DHCR7:NM_001163817:exon4:c.T207C:p.T69T,DHCR7:NM_001360:exon4:c.T207C:p.T69T RS1790334 Gene expression of DHCR7 [probe 3380697] in peripheral blood mononuclear cells:Gene expression of NADSYN1 [probe 3338968] in brain cortex:HDL cholesterol:Coronary artery disease (CAD):Serum metabolite (mass spec peak: 636.4 m/z):Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 665.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Infant head circumference:Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Serum metabolite (mass spec peak: 679.4 m/z):Serum metabolite (mass spec peak: 626.9 m/z)
11 71184678 2 NADSYN1 A C exonic nonsynonymous SNV NADSYN1:NM_018161:exon8:c.A612C:p.Q204H
11 71185479 2 NADSYN1 T C exonic synonymous SNV NADSYN1:NM_018161:exon9:c.T705C:p.C235C RS2276354 Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 636.4 m/z):Infant head circumference:Serum metabolite (mass spec peak: 666.4 m/z):Serum metabolite (mass spec peak: 680.4 m/z)
11 71185518 2 NADSYN1 T C exonic synonymous SNV NADSYN1:NM_018161:exon9:c.T744C:p.I248I RS2186778 Serum metabolite (mass spec peak: 534.3 m/z):Serum metabolite (mass spec peak: 133.1 m/z):Serum metabolite (mass spec peak: 626.9 m/z):Serum metabolite (mass spec peak: 556.3 m/z):Serum metabolite (mass spec peak: 680.4 m/z):Infant head circumference:Serum metabolite (mass spec peak: 629.4 m/z):Serum metabolite (mass spec peak: 636.4 m/z)
11 71401614 2
11 72945341 2 P2RY2 C T exonic nonsynonymous SNV P2RY2:NM_002564:exon3:c.C137T:p.P46L,P2RY2:NM_176071:exon3:c.C137T:p.P46L,P2RY2:NM_176072:exon3:c.C137T:p.P46L
11 72946020 2 P2RY2 C T exonic synonymous SNV P2RY2:NM_002564:exon3:c.C816T:p.R272R,P2RY2:NM_176071:exon3:c.C816T:p.R272R,P2RY2:NM_176072:exon3:c.C816T:p.R272R RS1783596 Alzheimer's disease:HOMA-B:HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Triglycerides change with statins:Total cholesterol:LDL cholesterol:Nicotine dependence (smoking):Waist hip ratio:O-Acetylcarnitine:Valine:O-Acetylcarnitine:Tyrosine:Variant Creutzfeldt-Jakob disease:Infant head circumference
11 72946140 2 P2RY2 G C exonic nonsynonymous SNV P2RY2:NM_002564:exon3:c.G936C:p.R312S,P2RY2:NM_176071:exon3:c.G936C:p.R312S,P2RY2:NM_176072:exon3:c.G936C:p.R312S
11 74049569 2 PGM2L1 A G exonic synonymous SNV PGM2L1:NM_173582:exon13:c.T1710C:p.S570S
11 74053547 2 PGM2L1 C T exonic nonsynonymous SNV PGM2L1:NM_173582:exon12:c.G1591A:p.V531I RS592644 LDL cholesterol:LDL cholesterol change with statins:Height
11 74559481 2 XRRA1 C T exonic synonymous SNV XRRA1:NM_001270380:exon12:c.G1122A:p.P374P,XRRA1:NM_001270381:exon12:c.G558A:p.P186P,XRRA1:NM_182969:exon15:c.G1383A:p.P461P RS4944961 Gene expression of XRRA1 [probe 230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe 237666_at] in lymphoblastoid cell lines:HOMA-IR:Height:Body mass index (BMI):College completion:Parkinson's disease:Gene expression of XRRA1 in normal prepouch ileum:Salmonella-induced pyroptosis
11 74705696 2 NEU3 T C exonic synonymous SNV NEU3:NM_006656:exon2:c.T237C:p.S79S RS544115 Serum creatinine:Total cholesterol:LDL cholesterol:Height:Body mass index (BMI):Gene expression change of NEU3 (ENSG00000162139) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of XRRA1 in normal prepouch ileum:Coronary artery disease (CAD):Gene expression of NEU3 (ENSG00000162139) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference
11 74904362 2 SLCO2B1 T C exonic nonsynonymous SNV SLCO2B1:NM_001145212:exon6:c.T743C:p.I248T,SLCO2B1:NM_001145211:exon9:c.T1109C:p.I370T,SLCO2B1:NM_007256:exon9:c.T1175C:p.I392T
11 77921527 2 USP35 G C exonic nonsynonymous SNV USP35:NM_020798:exon10:c.G2626C:p.A876P RS2512526 Body mass index (BMI):Mitral annular calcium
11 82996986 2 CCDC90B A C exonic nonsynonymous SNV CCDC90B:NM_021825:exon1:c.T30G:p.F10L RS494791 Partial epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
11 88045583 2 CTSC A G exonic nonsynonymous SNV CTSC:NM_001814:exon3:c.T458C:p.I153T RS217086 Differential exon level expression of CTSC [probe 3385778] in brain cortex:Differential exon level expression of CTSC [probe 3385778] in peripheral blood mononuclear cells:Partial epilepsy:Gene expression of CTSC in CD4+ lymphocytes:Gene expression of CTSC in blood:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy)
11 89868755 2 NAALAD2 G A exonic synonymous SNV NAALAD2:NM_001300930:exon2:c.G111A:p.T37T,NAALAD2:NM_005467:exon2:c.G111A:p.T37T RS10734123 Parkinson's disease (PD):Maternal transmission distortion
11 89935586 2 CHORDC1 G T exonic nonsynonymous SNV CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,CHORDC1:NM_012124:exon11:c.C986A:p.A329D RS1045861 Years of education:College completion:Obesity with early age of onset (age >2)
11 93212254 2 SMCO4 C T exonic synonymous SNV SMCO4:NM_020179:exon3:c.G102A:p.V34V
11 93425159 2 CEP295 C A exonic nonsynonymous SNV CEP295:NM_033395:exon12:c.C1496A:p.A499E RS4753495 Gene expression of LOC374421 in YRI lymphoblastoid cell lines:LDL cholesterol:Adiponectin levels
11 102666316 2 MMP1 T C exonic synonymous SNV MMP1:NM_001145938:exon5:c.A450G:p.A150A,MMP1:NM_002421:exon5:c.A648G:p.A216A RS470558 LDL cholesterol:LDL cholesterol:Total cholesterol:Adiponectin levels:Refractive error
11 104819327 2 CASP4 T C exonic synonymous SNV CASP4:NM_001225:exon6:c.A858G:p.L286L,CASP4:NM_033306:exon6:c.A690G:p.L230L
11 108183167 2 ATM A G exonic nonsynonymous SNV ATM:NM_000051:exon40:c.A5948G:p.N1983S
11 111420364 2 LAYN A G exonic synonymous SNV LAYN:NM_178834:exon3:c.A405G:p.P135P,LAYN:NM_001258390:exon4:c.A429G:p.P143P
11 111749349 2 FDXACB1 A T exonic nonsynonymous SNV FDXACB1:NM_138378:exon2:c.T260A:p.I87N RS611010 Gene expression of PPP2R1B in peripheral blood monocytes
11 112065434 2 BCO2 T C exonic nonsynonymous SNV BCO2:NM_001256400:exon4:c.T377C:p.L126P,BCO2:NM_001037290:exon5:c.T590C:p.L197P,BCO2:NM_001256397:exon5:c.T590C:p.L197P,BCO2:NM_031938:exon5:c.T692C:p.L231P
11 113670052 2 USP28 T A exonic synonymous SNV USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T
11 117160347 2 BACE1 A G exonic nonsynonymous SNV BACE1:NM_001207048:exon8:c.T1141C:p.C381R,BACE1:NM_001207049:exon8:c.T1066C:p.C356R,BACE1:NM_012104:exon9:c.T1441C:p.C481R,BACE1:NM_138971:exon9:c.T1309C:p.C437R,BACE1:NM_138972:exon9:c.T1366C:p.C456R,BACE1:NM_138973:exon9:c.T1234C:p.C412R
11 117163824 2 BACE1 C G exonic synonymous SNV BACE1:NM_001207048:exon4:c.G486C:p.V162V,BACE1:NM_001207049:exon4:c.G411C:p.V137V,BACE1:NM_012104:exon5:c.G786C:p.V262V,BACE1:NM_138971:exon5:c.G654C:p.V218V,BACE1:NM_138972:exon5:c.G711C:p.V237V,BACE1:NM_138973:exon5:c.G579C:p.V193V RS638405 Triglycerides:2 hour glucose:Total cholesterol:Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP)
11 118107805 2 MPZL3 A G exonic synonymous SNV MPZL3:NM_001286152:exon3:c.T375C:p.H125H,MPZL3:NM_198275:exon3:c.T411C:p.H137H RS1793140 LDL cholesterol:Triglycerides:Fasting blood glucose:Methylation levels at chr11:117627875-117627925 [hg18 coord, probe cg06491116] in Frontal cortex:Total cholesterol:LDL cholesterol:Height:Diastolic blood pressure (DBP):Obesity with early age of onset (age >2)
11 118110977 2 MPZL3 T C exonic synonymous SNV MPZL3:NM_001286152:exon2:c.A153G:p.K51K,MPZL3:NM_198275:exon2:c.A189G:p.K63K RS2853006 Triglycerides:LDL cholesterol:Serum creatinine:Methylation levels at chr11:117627875-117627925 [hg18 coord, probe cg06491116] in Frontal cortex:Total cholesterol:LDL cholesterol:Height:Diastolic blood pressure (DBP)
11 118919206 2 HYOU1 T C exonic synonymous SNV HYOU1:NM_001130991:exon19:c.A2235G:p.A745A,HYOU1:NM_006389:exon19:c.A2235G:p.A745A RS568922 Major depressive disorder:Gene expression of VPS11 in peripheral blood monocytes:Gene expression of HMBS in peripheral blood monocytes:Gene expression of HMBS in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of VPS11 [probe ILMN_13229] in osteoblasts treated with PGE2:Gene expression of HMBS///H2AFX in blood:Gene expression of VPS11 in blood:Gene expression of HMBS in blood:Hypertension (early onset hypertension):Gene expression of C2CD2L (ENSG00000172375) in dendritic cells:Gene expression change of C2CD2L (ENSG00000172375) in dendritic cells after treatment with Mycobacterium tuberculosis
11 118940957 2 VPS11 C G exonic unknown UNKNOWN RS1784302 Body mass index (BMI):Years of education:Gene expression of HMBS (probeID ILMN_1726306) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HMBS (probeID ILMN_1726306) in cerebellum in Alzheimer's disease cases and controls
11 118949331 2 VPS11 C T exonic unknown UNKNOWN RS1177562 Body mass index (BMI):Years of education:Gene expression of HMBS (probeID ILMN_1726306) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HMBS (probeID ILMN_1726306) in cerebellum in Alzheimer's disease cases and controls
11 119005088 2 HINFP C T exonic synonymous SNV HINFP:NM_198971:exon10:c.C1434T:p.I478I,HINFP:NM_015517:exon11:c.C1434T:p.I478I RS512703 Premature ovarian failure:HDL cholesterol change with statins:Serum creatinine:Gene expression of MIZF in peripheral blood monocytes:Gene expression of HMBS in peripheral blood monocytes:Gene expression of NANOS1 in peripheral blood monocytes:Gene expression of MIZF in blood:Gene expression of DPAGT1 in blood:Advanced age-related macular degeneration (geographic atrophy)
11 121403229 2 SORL1 T C exonic synonymous SNV SORL1:NM_003105:exon12:c.T1653C:p.A551A
11 121491782 2 SORL1 G A exonic nonsynonymous SNV SORL1:NM_003105:exon44:c.G5899A:p.V1967I
11 124015994 2 VWA5A C T exonic synonymous SNV VWA5A:NM_014622:exon17:c.C2205T:p.H735H,VWA5A:NM_001130142:exon18:c.C2205T:p.H735H RS1056615 Diastolic blood pressure (DBP):PROP taste detection threshold
11 125525195 2 CHEK1 A G exonic nonsynonymous SNV CHEK1:NM_001244846:exon12:c.A1309G:p.I437V,CHEK1:NM_001330427:exon12:c.A1459G:p.I487V,CHEK1:NM_001330428:exon12:c.A1129G:p.I377V,CHEK1:NM_001114121:exon13:c.A1411G:p.I471V,CHEK1:NM_001114122:exon13:c.A1411G:p.I471V,CHEK1:NM_001274:exon13:c.A1411G:p.I471V RS506504 HOMA-B:HDL cholesterol change with statins:Triglycerides:Waist hip ratio
11 126176578 2 DCPS G A exonic synonymous SNV DCPS:NM_001350236:exon2:c.G336A:p.Q112Q,DCPS:NM_014026:exon2:c.G315A:p.Q105Q RS637462 HDL cholesterol:Cystatin C in serum:Gene expression of FOXRED1 in normal prepouch ileum:Gene expression change of FOXRED1 (ENSG00000110074) in dendritic cells after treatment with Mycobacterium tuberculosis:Refractive error
11 151138179 2
11 153039502 2
11 153657083 2
12 662448 2 B4GALNT3 T C exonic synonymous SNV B4GALNT3:NM_173593:exon14:c.T1359C:p.L453L RS758790 HDL cholesterol change with statins:Obsessive-compulsive disorder (OCD)
12 862989 2 WNK1 T C exonic synonymous SNV WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C
12 939302 2 WNK1 A G exonic synonymous SNV WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A RS10774466 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:Gene expression of FKBP9L in peripheral blood monocytes:Advanced age-related macular degeneration:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 990912 2 WNK1 A C exonic nonsynonymous SNV WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P RS956868 LDL cholesterol:Total cholesterol:Lp-PLA2 mass
12 994487 2 WNK1 G C exonic nonsynonymous SNV WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S RS7955371 Triglycerides
12 2968458 2 FOXM1 T C exonic synonymous SNV FOXM1:NM_001243088:exon8:c.A1593G:p.R531R,FOXM1:NM_001243089:exon8:c.A1590G:p.R530R,FOXM1:NM_202003:exon8:c.A1593G:p.R531R,FOXM1:NM_021953:exon9:c.A1638G:p.R546R,FOXM1:NM_202002:exon10:c.A1752G:p.R584R
12 6495275 2 LTBR C A exonic synonymous SNV LTBR:NM_001270987:exon5:c.C459A:p.A153A,LTBR:NM_002342:exon5:c.C516A:p.A172A RS2364480 HDL cholesterol:Gene expression of LTBR in Fibroblasts:LDL cholesterol:Total cholesterol:Gene expression of LTBR [probe ILMN_30110] in osteoblasts treated with PGE2:Gene expression of LTBR [probe ILMN_30110] in untreated osteoblasts:Gene expression of LTBR [probe ILMN_30110] in osteoblasts treated with BMP2:Microalbuminuria:Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression of LTBR in blood:Gene expression of IFFO1 in blood:Aortic valve calcium:Gene expression of LTBR (ENSG00000111321) in dendritic cells:Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis:Gene expression of LTBR in normal prepouch ileum:Juvenile idiopathic arthritis (including oligoarticular and rheumatoid factor-negative polyarticular JIA):Oligoarticular juvenile idiopathic arthritis:Gene expression of LTBR (ENSG00000111321) in dendritic cells treated with Mycobacterium tuberculosis
12 6562753 2 TAPBPL A G exonic nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A436G:p.M146V,TAPBPL:NM_001351355:exon4:c.A46G:p.M16V RS2532501 Gene expression of VAMP1 [probe 207100_s_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe 218747_s_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe 218746_at] in lymphoblastoid cell lines:Gene expression of VAMP1 [probe 207101_at] in lymphoblastoid cell lines:Gene expression of TAPBPL in lymphoblastoid cell lines:Gene expression of VAMP1 in lymphoblastoid cell lines:Gene expression of CND1_HUMAN in blood cells in Celiac disease:Premature ovarian failure:Total cholesterol:Gene expression of CNAP1 in Cerebellum:Autism with verbal ability:Gene expression of TAPBPL in CD4+ lymphocytes:Gene expression of NCAPD2 in CD4+ lymphocytes:Gene expression of CNAP1 [probe ILMN_26621] in osteoblasts treated with dexamethasone:Gene expression of VAMP1 [probe ILMN_10438] in osteoblasts treated with PGE2:Gene expression of GAPDH in blood:Gene expression of TAPBPL///VAMP1 in blood:Gene expression of IFFO1 in blood:Gene expression of NCAPD2 in blood:Gene expression of MRPL51 in blood:Bipolar disorder:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in non-Alzheimer's disease samples:Gene expression of VAMP1 (probeID ILMN_1737611) in temporal cortex in Alzheimer's disease cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TAPBPL in normal prepouch ileum:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in Alzheimer's disease cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of VAMP1 (probeID ILMN_1737611) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in Progressive Supranuclear Palsy cases:Primary rhegmatogenous retinal detachment:Gene expression of VAMP1 in normal prepouch ileum:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of VAMP1 (probeID ILMN_1737611) in cerebellum in non-Alzheimer's disease samples
12 6562810 2 TAPBPL A G exonic nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A493G:p.T165A,TAPBPL:NM_001351355:exon4:c.A103G:p.T35A RS2532500 Total cholesterol:Gene expression of CNAP1 in Cerebellum:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases and controls
12 9070366 2 PHC1 T A exonic synonymous SNV PHC1:NM_004426:exon2:c.T93A:p.L31L RS4883198 LDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of M6PR in liver
12 9074259 2 PHC1 C T exonic synonymous SNV PHC1:NM_004426:exon5:c.C369T:p.P123P RS1805741 Total cholesterol:Waist hip ratio
12 9083336 2 PHC1 A G exonic synonymous SNV PHC1:NM_004426:exon7:c.A918G:p.R306R
12 10525740 2 KLRC4-KLRK1;KLRK1 C T exonic synonymous SNV KLRK1:NM_007360:exon8:c.G624A:p.T208T,KLRC4-KLRK1:NM_001199805:exon13:c.G624A:p.T208T RS1049172 Gene expression of KLRC4 [probe 1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe 1555691_a_at] in lymphoblastoid cell lines:Gene expression of KLRK1 [probe 205821_at] in lymphoblastoid cell lines:Chronic kidney disease:Methylation levels at chr12:10479433-10479483 [hg18 coord, probe cg22432908] in Caudal pons:Gene expression of KLRK1 [probe ILMN_29874] in osteoblasts treated with pge-2:Gene expression of KLRD1 (ENSG00000134539) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of KLRD1 (ENSG00000134539) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of KLRC4 in normal prepouch ileum
12 10763236 2 MAGOHB G C exonic synonymous SNV MAGOHB:NM_018048:exon2:c.C138G:p.V46V RS10845182 Fasting blood glucose:HDL cholesterol change with statins
12 14587301 2 ATF7IP A G exonic nonsynonymous SNV ATF7IP:NM_001286514:exon3:c.A1586G:p.K529R,ATF7IP:NM_001286515:exon3:c.A1586G:p.K529R,ATF7IP:NM_018179:exon3:c.A1589G:p.K530R,ATF7IP:NM_181352:exon3:c.A1613G:p.K538R RS3213764 HDL cholesterol:Height:Free-to-total prostate-specific antigen (%fPSA):Obesity with early age of onset (age >2):College completion:Years of education
12 14688644 2 PLBD1 C T exonic nonsynonymous SNV PLBD1:NM_024829:exon6:c.G793A:p.V265I
12 14720583 2 PLBD1 T C exonic synonymous SNV PLBD1:NM_024829:exon1:c.A48G:p.P16P
12 15095558 2 ARHGDIB C G exonic synonymous SNV ARHGDIB:NM_001175:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321421:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321422:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321423:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321420:exon7:c.G504C:p.A168A RS4703 HDL cholesterol change with statins:T-cell recognition in leukemia patients (minor histocompatibility antigens):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
12 27470866 2 STK38L G A exonic synonymous SNV STK38L:NM_015000:exon11:c.G993A:p.T331T
12 27800746 2 PPFIBP1 G T exonic nonsynonymous SNV PPFIBP1:NM_001198916:exon6:c.G442T:p.V148L,PPFIBP1:NM_003622:exon6:c.G442T:p.V148L,PPFIBP1:NM_177444:exon6:c.G442T:p.V148L
12 27849795 2 REP15 C T exonic synonymous SNV REP15:NM_001029874:exon1:c.C300T:p.S100S RS929948 Differential exon level expression of MRPS35 [probe 3409337] in brain cortex:Gene expression of MRPS35 in CD4+ lymphocytes
12 27849796 2 REP15 A G exonic nonsynonymous SNV REP15:NM_001029874:exon1:c.A301G:p.N101D
12 32134240 2 KIAA1551 C T exonic synonymous SNV KIAA1551:NM_018169:exon4:c.C351T:p.N117N RS2388982 LDL cholesterol:Neuroblastoma (brain cancer):Gene expression of C12orf35 (ENSG00000174718) in dendritic cells:Advanced age-related macular degeneration (geographic atrophy):Gene expression change of C12orf35 (ENSG00000174718) in dendritic cells after treatment with Mycobacterium tuberculosis
12 32134638 2 KIAA1551 T C exonic nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T749C:p.L250P RS2166807 Gene expression of hmm30082 in JPT lymphoblastoid cell lines:HDL cholesterol:Acute lung injury following major trauma
12 32134943 1 KIAA1551 A G exonic nonsynonymous SNV KIAA1551:NM_018169:exon4:c.A1054G:p.S352G
12 32135441 2 KIAA1551 T C exonic nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T1552C:p.S518P RS3759301 Gene expression of hmm30082 in JPT lymphoblastoid cell lines
12 32996192 1 PKP2 G T exonic synonymous SNV PKP2:NM_004572:exon6:c.C1434A:p.A478A
12 32996218 2 PKP2 C A exonic nonsynonymous SNV PKP2:NM_004572:exon6:c.G1408T:p.G470C
12 32996221 2 PKP2 T A exonic nonsynonymous SNV PKP2:NM_004572:exon6:c.A1405T:p.N469Y
12 39713776 1 KIF21A C A exonic nonsynonymous SNV KIF21A:NM_001173463:exon26:c.G3651T:p.E1217D,KIF21A:NM_001173465:exon26:c.G3603T:p.E1201D,KIF21A:NM_017641:exon27:c.G3672T:p.E1224D,KIF21A:NM_001173464:exon28:c.G3711T:p.E1237D
12 42839836 2 PPHLN1 A C exonic nonsynonymous SNV PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P
12 47168898 2 SLC38A4 G A exonic synonymous SNV SLC38A4:NM_001143824:exon13:c.C1233T:p.P411P,SLC38A4:NM_018018:exon14:c.C1233T:p.P411P
12 49221622 1 CACNB3 G A exonic synonymous SNV CACNB3:NM_001206915:exon12:c.G1272A:p.E424E,CACNB3:NM_000725:exon13:c.G1395A:p.E465E,CACNB3:NM_001206916:exon13:c.G1392A:p.E464E,CACNB3:NM_001206917:exon13:c.G1356A:p.E452E RS1045340 Body mass index (BMI):Refractive error:Years of education:Gene expression of DDX23 (ENSG00000174243) in dendritic cells treated with Mycobacterium tuberculosis:College completion
12 49230035 1 DDX23 T G exonic synonymous SNV DDX23:NM_004818:exon11:c.A1251C:p.I417I RS1057908 Serum creatinine:Years of education:Tetrology of fallot:College completion
12 49334762 2 ARF3 G C exonic synonymous SNV ARF3:NM_001659:exon2:c.C117G:p.L39L RS12122 Total cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Aortic valve calcium
12 49434074 1 KMT2D C A exonic synonymous SNV KMT2D:NM_003482:exon31:c.G7479T:p.G2493G
12 50503269 1 GPD1 C T exonic synonymous SNV GPD1:NM_001257199:exon8:c.C948T:p.I316I,GPD1:NM_005276:exon8:c.C1017T:p.I339I RS836180 HOMA-B:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Mitral annular calcium
12 50529736 1 CERS5 G A exonic synonymous SNV CERS5:NM_001331070:exon7:c.C753T:p.D251D,CERS5:NM_001331071:exon7:c.C753T:p.D251D,CERS5:NM_147190:exon7:c.C753T:p.D251D,CERS5:NM_001281731:exon8:c.C579T:p.D193D,CERS5:NM_001331069:exon8:c.C579T:p.D193D,CERS5:NM_001331072:exon8:c.C321T:p.D107D,CERS5:NM_001331073:exon8:c.C321T:p.D107D RS3741562 LDL cholesterol:HOMA-IR:Fasting insulin:LDL cholesterol:Total cholesterol:LDL cholesterol change with statins:Serum creatinine:HDL cholesterol:College completion:Advanced age-related macular degeneration (geographic atrophy)
12 50537815 1 CERS5 A G exonic nonsynonymous SNV CERS5:NM_001331070:exon2:c.T223C:p.C75R,CERS5:NM_001331071:exon2:c.T223C:p.C75R,CERS5:NM_147190:exon2:c.T223C:p.C75R,CERS5:NM_001281731:exon3:c.T49C:p.C17R,CERS5:NM_001331069:exon3:c.T49C:p.C17R RS7302981 HOMA-B:LASS5 gene expression in HIV-infected CD4+ T cells:Gene expression of LIMA1 in peripheral blood monocytes:Gene expression of DIP2B in peripheral blood monocytes:Gene expression of PRG2 in peripheral blood monocytes:Gene expression of LASS5 in peripheral blood monocytes:Gene expression of MRPL11 in peripheral blood monocytes:Gene expression of LIMA1 in blood:Gene expression of LASS5 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of LASS5 [probeset 224951_at] in sputum:Age at death with kuru exposure:Gene expression of LASS5 (probeID ILMN_2208495) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of LASS5 (probeID ILMN_2208495) in cerebellum in Alzheimer's disease cases:Mitral annular calcium:Gene expression of LASS5 (probeID ILMN_2208495) in cerebellum in non-Alzheimer's disease samples:Gene expression of LASS5 (probeID ILMN_2208495) in breast tumors:Gene expression of LASS5 (probeID ILMN_2208495) in temporal cortex in Alzheimer's disease cases:Gene expression of LASS5 (probeID ILMN_2208495) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LASS5 (probeID ILMN_2208495) in cerebellum in Alzheimer's disease cases and controls
12 51135275 2 DIP2B T C exonic synonymous SNV DIP2B:NM_173602:exon37:c.T4431C:p.I1477I
12 52565322 2 KRT80 G T exonic synonymous SNV KRT80:NM_001081492:exon9:c.C1254A:p.P418P
12 53294381 1 KRT8 T C exonic synonymous SNV KRT8:NM_002273:exon4:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L
12 53433089 2 EIF4B C A exonic synonymous SNV EIF4B:NM_001330654:exon12:c.C1527A:p.G509G,EIF4B:NM_001300821:exon13:c.C1659A:p.G553G,EIF4B:NM_001417:exon13:c.C1644A:p.G548G
12 53647373 2 MFSD5 T C exonic synonymous SNV MFSD5:NM_001170790:exon2:c.T1075C:p.L359L,MFSD5:NM_032889:exon2:c.T754C:p.L252L RS10876422 Total cholesterol:Height:Gene expression of ESPL1 in normal prepouch ileum:Adiponectin levels
12 53670545 2 ESPL1 C A exonic nonsynonymous SNV ESPL1:NM_012291:exon8:c.C1842A:p.S614R RS1318648 Methylation levels at chr12:51947966-51948016 [hg18 coord, probe cg13445358] in Cerebellum:Height:Gene expression of ESPL1 in normal prepouch ileum:Lumbar spine bone mineral density (BMD):Femoral neck bone mineral density (BMD)
12 53681883 2 ESPL1 A T exonic nonsynonymous SNV ESPL1:NM_012291:exon19:c.A4304T:p.K1435M
12 53686703 2 ESPL1 G A exonic nonsynonymous SNV ESPL1:NM_012291:exon30:c.G6110A:p.R2037H
12 53693532 2 C12orf10 A G exonic nonsynonymous SNV C12orf10:NM_021640:exon1:c.A11G:p.Q4R
12 53693533 2 C12orf10 A C exonic nonsynonymous SNV C12orf10:NM_021640:exon1:c.A12C:p.Q4H
12 53700848 2 C12orf10 C T exonic nonsynonymous SNV C12orf10:NM_021640:exon7:c.C1046T:p.T349I
12 53700860 2 C12orf10 A G exonic nonsynonymous SNV C12orf10:NM_021640:exon7:c.A1058G:p.H353R
12 53703021 2 AAAS G A exonic synonymous SNV AAAS:NM_001173466:exon8:c.C756T:p.F252F,AAAS:NM_015665:exon9:c.C855T:p.F285F
12 54109733 2 CALCOCO1 A G exonic synonymous SNV CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S RS3741658 Total cholesterol:Urinary albumin-to-creatinine ratio
12 56295734 2 PYM1 A G exonic synonymous SNV PYM1:NM_001143853:exon3:c.T534C:p.P178P,PYM1:NM_032345:exon3:c.T537C:p.P179P
12 56398454 2 SUOX G C exonic synonymous SNV SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S RS773115 Gene expression of LOC644191 [probe 217753_s_at] in lymphoblastoid cell lines:Gene expression of LOC728937 [probe 217753_s_at] in lymphoblastoid cell lines:Gene expression of RPS26 [probe 217753_s_at] in lymphoblastoid cell lines:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Rheumatoid arthritis:Acute lung injury following major trauma
12 56647911 2 ANKRD52 G C exonic synonymous SNV ANKRD52:NM_173595:exon8:c.C846G:p.S282S RS808919 Coronary artery disease (CAD):Abnormal Involuntary Movement Scale:HOMA-B:Gene expression of RPS26L1 in peripheral blood monocytes:Gene expression of RPS26L in peripheral blood monocytes:Gene expression of STAT2 in peripheral blood monocytes:Gene expression of SPRYD4 in peripheral blood monocytes:Gene expression of RPS26 in peripheral blood monocytes:Gene expression of CCDC4 in peripheral blood monocytes:Height:Advanced age-related macular degeneration:Transmission distortion:Maternal transmission distortion:Advanced age-related macular degeneration (geographic atrophy)
12 56649601 2 ANKRD52 A G exonic synonymous SNV ANKRD52:NM_173595:exon5:c.T429C:p.A143A RS1274490 Myopia
12 56722060 2 PAN2 T G exonic nonsynonymous SNV PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L
12 56862886 2 SPRYD4 T C exonic nonsynonymous SNV SPRYD4:NM_207344:exon2:c.T149C:p.M50T
12 57106660 1 NACA A T exonic synonymous SNV NACA:NM_001113201:exon7:c.T543A:p.I181I,NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001320193:exon7:c.T543A:p.I181I,NACA:NM_001320194:exon7:c.T543A:p.I181I,NACA:NM_005594:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I
12 57109931 2 NACA A T exonic nonsynonymous SNV NACA:NM_001113203:exon5:c.T1924A:p.S642T RS2926747 Type 2 diabetes
12 57585144 2 LRP1 C T exonic synonymous SNV LRP1:NM_002332:exon44:c.C7278T:p.A2426A RS1800139 Age at menarche:Birth weight
12 57590869 2 LRP1 T C exonic synonymous SNV LRP1:NM_002332:exon56:c.T8997C:p.T2999T
12 57593101 2 LRP1 G A exonic synonymous SNV LRP1:NM_002332:exon61:c.G9783A:p.T3261T
12 57994743 2 PIP4K2C T G exonic synonymous SNV PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L
12 57995089 2 PIP4K2C T C exonic synonymous SNV PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A
12 58019472 2 SLC26A10 T G exonic nonsynonymous SNV SLC26A10:NM_133489:exon14:c.T1636G:p.L546V
12 58149446 2 9-Mar C T exonic synonymous SNV MARCH9:NM_138396:exon1:c.C135T:p.G45G
12 64472803 2 SRGAP1 A T exonic synonymous SNV SRGAP1:NM_001346201:exon9:c.A1230T:p.S410S,SRGAP1:NM_020762:exon9:c.A1230T:p.S410S
12 64519806 1 SRGAP1 T C exonic synonymous SNV SRGAP1:NM_001346201:exon19:c.T2205C:p.S735S,SRGAP1:NM_020762:exon19:c.T2274C:p.S758S RS789722 Eye color:Resistance to kuru in aged women despite likely exposure
12 64609562 2 C12orf66 C T exonic nonsynonymous SNV C12orf66:NM_001300940:exon2:c.G417A:p.M139I,C12orf66:NM_001300941:exon2:c.G258A:p.M86I,C12orf66:NM_152440:exon2:c.G417A:p.M139I
12 65563712 1 LEMD3 C T exonic synonymous SNV LEMD3:NM_001167614:exon1:c.C336T:p.A112A,LEMD3:NM_014319:exon1:c.C336T:p.A112A
12 72013832 1 ZFC3H1 A G exonic synonymous SNV ZFC3H1:NM_144982:exon26:c.T4923C:p.A1641A RS1298463 Hypertension:LDL cholesterol:2 hour glucose:LDL cholesterol change with statins:Adiponectin levels
12 77449790 2 E2F7 A G exonic nonsynonymous SNV E2F7:NM_203394:exon3:c.T214C:p.F72L RS310791 Stabilized warfarin dose:Schizophrenia:Sporadic Creutzfeldt-Jakob disease:Tourette's syndrome:Salmonella-induced pyroptosis
12 80014907 2 PAWR A T exonic synonymous SNV PAWR:NM_002583:exon3:c.T597A:p.I199I RS2307223 Total cholesterol:HDL cholesterol change with statins:LDL cholesterol:Chronic kidney disease:Birth weight
12 82783668 2 METTL25 C T exonic synonymous SNV METTL25:NM_001319675:exon3:c.C237T:p.I79I,METTL25:NM_032230:exon3:c.C498T:p.I166I,METTL25:NM_001347934:exon4:c.C342T:p.I114I RS10778908 HDL cholesterol change with statins
12 82792787 2 METTL25 C A exonic nonsynonymous SNV METTL25:NM_001319675:exon4:c.C484A:p.Q162K,METTL25:NM_032230:exon4:c.C745A:p.Q249K,METTL25:NM_001347934:exon5:c.C589A:p.Q197K RS4296098 Gene expression of C12orf26 in liver:HDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob disease
12 89743223 2 DUSP6 G A exonic synonymous SNV DUSP6:NM_022652:exon2:c.C516T:p.D172D,DUSP6:NM_001946:exon3:c.C954T:p.D318D
12 89745477 1 DUSP6 C A exonic nonsynonymous SNV DUSP6:NM_001946:exon1:c.G340T:p.V114L,DUSP6:NM_022652:exon1:c.G340T:p.V114L RS2279574 HDL cholesterol:Obesity with early age of onset (age >2):Gene expression of DUSP6 (ENSG00000139318) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
12 93196422 2 EEA1 T G exonic nonsynonymous SNV EEA1:NM_003566:exon19:c.A2428C:p.K810Q RS10745623 Height:Urinary albumin-to-creatinine ratio:Microalbuminuria
12 94769758 2 CEP83 A G exonic synonymous SNV CEP83:NM_001042399:exon7:c.T837C:p.R279R,CEP83:NM_001346457:exon7:c.T837C:p.R279R,CEP83:NM_001346459:exon7:c.T525C:p.R175R,CEP83:NM_001346461:exon7:c.T837C:p.R279R,CEP83:NM_001346462:exon7:c.T525C:p.R175R,CEP83:NM_001346458:exon8:c.T525C:p.R175R,CEP83:NM_001346460:exon8:c.T837C:p.R279R,CEP83:NM_016122:exon8:c.T837C:p.R279R RS4761611 Eye color:Premature ovarian failure:LDL cholesterol:Adiponectin levels
12 95604290 1 FGD6 T C exonic nonsynonymous SNV FGD6:NM_018351:exon2:c.A770G:p.Q257R RS10507047 Premature ovarian failure:Gene expression of VEZT in blood
12 99007623 1 IKBIP C T exonic nonsynonymous SNV IKBIP:NM_201612:exon3:c.G793A:p.G265S RS1048906 Gene expression of [probe 3170605 centered at chr12:97542310] in blood:Gene expression of SLC25A3///SNORA53 in blood
12 101017445 2 GAS2L3 T C exonic synonymous SNV GAS2L3:NM_001303130:exon9:c.T862C:p.L288L,GAS2L3:NM_001303131:exon10:c.T550C:p.L184L,GAS2L3:NM_174942:exon10:c.T862C:p.L288L
12 101683929 1 UTP20 C T exonic synonymous SNV UTP20:NM_014503:exon7:c.C612T:p.N204N RS703715 Gene expression of ZSWIM1 in peripheral blood monocytes
12 101732655 1 UTP20 C T exonic synonymous SNV UTP20:NM_014503:exon31:c.C3933T:p.S1311S
12 101750814 2 UTP20 T A exonic nonsynonymous SNV UTP20:NM_014503:exon43:c.T5645A:p.L1882Q RS10082778 Total cholesterol:Parkinson's disease
12 102517753 1 PARPBP T C exonic synonymous SNV PARPBP:NM_001319988:exon2:c.T87C:p.T29T,PARPBP:NM_001319996:exon2:c.T87C:p.T29T,PARPBP:NM_017915:exon2:c.T87C:p.T29T RS2036772 LDL cholesterol:Cystatin C in serum:Autism with low IQ:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
12 105546172 2 WASHC4 G A exonic nonsynonymous SNV WASHC4:NM_001293640:exon26:c.G2704A:p.V902I,WASHC4:NM_015275:exon26:c.G2701A:p.V901I RS1663564 Triglycerides change with statins:LDL cholesterol:Gene expression of DIP13B in CD4+ lymphocytes:Body mass index (BMI):Gene expression of [probe 5810743 centered at chr12:104288777] in blood:Gene expression of APPL2 in blood:College completion
12 105568122 2 APPL2 G A exonic synonymous SNV APPL2:NM_001251904:exon21:c.C1983T:p.N661N,APPL2:NM_001251905:exon21:c.C1836T:p.N612N,APPL2:NM_018171:exon21:c.C1965T:p.N655N RS935241 Fasting blood glucose:Total cholesterol change with statins
12 105568176 2 APPL2 G A exonic synonymous SNV APPL2:NM_001251904:exon21:c.C1929T:p.D643D,APPL2:NM_001251905:exon21:c.C1782T:p.D594D,APPL2:NM_018171:exon21:c.C1911T:p.D637D RS935240 Fasting blood glucose:Total cholesterol change with statins
12 107395106 2 CRY1 A G exonic synonymous SNV CRY1:NM_004075:exon5:c.T636C:p.G212G RS8192440 2 hour glucose:Triglycerides:Systolic blood pressure (SBP):Maternal transmission distortion:Hypertension (early onset hypertension):Transmission distortion
12 108918146 2 SART3 C T exonic synonymous SNV SART3:NM_014706:exon18:c.G2661A:p.P887P RS2303633 Height:Gene expression of ISCU [probeset 209075_s_at] in sputum:Maternal transmission distortion
12 108923950 2 SART3 A G exonic synonymous SNV SART3:NM_014706:exon15:c.T1884C:p.D628D
12 108954823 2 SART3 C T exonic synonymous SNV SART3:NM_014706:exon1:c.G108A:p.R36R
12 108956417 2 ISCU T G exonic nonsynonymous SNV ISCU:NM_001301140:exon1:c.T19G:p.F7V,ISCU:NM_001301141:exon1:c.T19G:p.F7V,ISCU:NM_001320042:exon1:c.T19G:p.F7V,ISCU:NM_213595:exon1:c.T19G:p.F7V
12 108956418 2 ISCU T G exonic nonsynonymous SNV ISCU:NM_001301140:exon1:c.T20G:p.F7C,ISCU:NM_001301141:exon1:c.T20G:p.F7C,ISCU:NM_001320042:exon1:c.T20G:p.F7C,ISCU:NM_213595:exon1:c.T20G:p.F7C
12 109182049 1 SSH1 T C exonic synonymous SNV SSH1:NM_018984:exon15:c.A2865G:p.T955T
12 109675029 2 ACACB T C exonic synonymous SNV ACACB:NM_001093:exon33:c.T4506C:p.L1502L RS2241220 Neuroticism:Abnormal Involuntary Movement Scale:Cervical cancer:Gene expression of ACACB in blood:PROP taste detection threshold
12 109937534 1 UBE3B G A exonic nonsynonymous SNV UBE3B:NM_130466:exon12:c.G1037A:p.R346Q,UBE3B:NM_183415:exon12:c.G1037A:p.R346Q RS7298565 Gene expression of MMAB in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MMAB in liver:Irritible bowel syndrome:HDL cholesterol:Gene expression of KCTD10 in blood cells in Celiac disease:Differential exon level expression of UBE3B [probe 3431172] in peripheral blood mononuclear cells:Differential exon level expression of UBE3B [probe 3431172] in brain cortex:Fasting blood glucose:Gene expression of KCTD10 in Cerebellum:Gene expression of KCTD10 in peripheral blood monocytes:Total cholesterol:HDL cholesterol:Gene expression of KCTD10 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Alzheimer's disease (APOE3 homozygotes):Gene expression of KCTD10 in blood:Gene expression of MMAB in blood:Systolic blood pressure (SBP):Gene expression of MMAB in liver:Transmission distortion:Total cholesterol:Gene expression of MMAB (probeID ILMN_1689156) in cerebellum in Alzheimer's disease cases and controls:Breast cancer:Coronary artery disease (CAD):Gene expression of KCTD10 (probeID ILMN_1719064) in whole blood:Maternal transmission distortion:Gene expression of MMAB (probeID ILMN_1689156) in temporal cortex in Alzheimer's disease cases and controls
12 109994870 1 MMAB A T exonic nonsynonymous SNV MMAB:NM_052845:exon9:c.T716A:p.M239K RS9593 Irritible bowel syndrome:HDL cholesterol:Gene expression of MMAB probe [GI_41053624-S] in brain cortex with no Alzheimer's interaction:Fasting blood glucose:Gene expression of KCTD10 in Cerebellum:HDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Coronary artery disease (CAD):Breast cancer:Breast cancer (Estrogen receptor negative breast cancer):Gene expression of MMAB (probeID ILMN_1689156) in cerebellum in Alzheimer's disease cases and controls:Gene expression of KCTD10 (probeID ILMN_1719064) in whole blood:Gene expression of MMAB (probeID ILMN_1689156) in temporal cortex in Alzheimer's disease cases and controls
12 112191641 1 ACAD10 G A exonic synonymous SNV ACAD10:NM_025247:exon19:c.G2883A:p.A961A,ACAD10:NM_001136538:exon20:c.G2976A:p.A992A
12 112460147 1 ERP29 T G exonic synonymous SNV ERP29:NM_006817:exon3:c.T477G:p.P159P
12 112477055 1 NAA25 T C exonic nonsynonymous SNV NAA25:NM_024953:exon22:c.A2627G:p.K876R
12 113386950 2 OAS3 T C exonic synonymous SNV OAS3:NM_006187:exon6:c.T1314C:p.I438I RS2285932 Crohn's disease, combined control dataset, gender differentiated:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Gene expression of OAS3 in peripheral blood monocytes:Microalbuminuria:Refractive error:Parkinson's disease:Gene expression of OAS1 (probeID ILMN_1658247) in cerebellum in Alzheimer's disease cases and controls:Gene expression of OAS1 (probeID ILMN_1658247) in whole blood:Gene expression of OAS1 (probeID ILMN_1658247) in temporal cortex in Alzheimer's disease cases and controls
12 113425154 2 OAS2 C G exonic nonsynonymous SNV OAS2:NM_001032731:exon2:c.C489G:p.S163R
12 114261053 1 RBM19 G A exonic synonymous SNV RBM19:NM_001146698:exon24:c.C2859T:p.S953S,RBM19:NM_001146699:exon24:c.C2859T:p.S953S,RBM19:NM_016196:exon24:c.C2859T:p.S953S RS11066773 Triglycerides:Urinary albumin-to-creatinine ratio
12 114377899 2 RBM19 G C exonic nonsynonymous SNV RBM19:NM_001146698:exon15:c.C1804G:p.Q602E,RBM19:NM_001146699:exon15:c.C1804G:p.Q602E,RBM19:NM_016196:exon15:c.C1804G:p.Q602E
12 118520170 2 VSIG10 G A exonic synonymous SNV VSIG10:NM_019086:exon3:c.C426T:p.Y142Y RS7488309 Type 2 diabetes:Response to Lithium Treatment for Bipolar disorder:Methylation levels at chr12:119503795-119503845 [hg18 coord, probe cg25515063] in Temporal cortex:Aortic valve calcium:Birth weight
12 118682751 2 TAOK3 C T exonic nonsynonymous SNV TAOK3:NM_001346487:exon4:c.G140A:p.S47N,TAOK3:NM_001346489:exon4:c.G140A:p.S47N,TAOK3:NM_016281:exon4:c.G140A:p.S47N,TAOK3:NM_001346488:exon5:c.G140A:p.S47N RS428073 Arthritis including non-Rheumatoid:Differential exon level expression of PEBP1 [probe 3433809] in brain cortex:Gene expression of PEBP1 [probe 3433796] in brain cortex:Differential exon level expression of TAOK3 [probe 3473856] in brain cortex:Microalbuminuria:Diastolic blood pressure (DBP):Bipolar disorder
12 120171995 2 CIT T C exonic synonymous SNV CIT:NM_007174:exon25:c.A3198G:p.R1066R,CIT:NM_001206999:exon26:c.A3324G:p.R1108R RS278109 Triglycerides:Years of education
12 120189879 2 CIT A G exonic synonymous SNV CIT:NM_007174:exon22:c.T2754C:p.A918A,CIT:NM_001206999:exon23:c.T2880C:p.A960A RS904655 Methylation levels at chr1:208046402-208046452 [hg18 coord, probe cg23283495] in Temporal cortex:College completion:Years of education
12 120189888 2 CIT T C exonic synonymous SNV CIT:NM_007174:exon22:c.A2745G:p.T915T,CIT:NM_001206999:exon23:c.A2871G:p.T957T RS904654 College completion:Years of education
12 120575549 2 GCN1 A C exonic nonsynonymous SNV GCN1:NM_006836:exon49:c.T6463G:p.Y2155D
12 120589064 1 GCN1 G C exonic synonymous SNV GCN1:NM_006836:exon34:c.C4194G:p.A1398A
12 120589160 2 GCN1 A G exonic synonymous SNV GCN1:NM_006836:exon34:c.T4098C:p.L1366L RS2286046 Height:Body mass index (BMI):Diastolic blood pressure (DBP)
12 120591143 1 GCN1 A G exonic synonymous SNV GCN1:NM_006836:exon33:c.T3936C:p.Y1312Y RS12312562 Gene expression of GCN1L1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Gene expression of GCN1L1 in peripheral blood monocytes:Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Infant head circumference
12 120608031 1 GCN1 A G exonic synonymous SNV GCN1:NM_006836:exon15:c.T1461C:p.T487T RS2286050 Gene expression of GCN1L1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Partial epilepsy:Gene expression of GCN1L1 in blood:Systolic blood pressure (SBP):Resistance to kuru in aged women despite likely exposure:Infant head circumference:Obesity with early age of onset (age >2)
12 120661977 2 PXN T C exonic nonsynonymous SNV PXN:NM_001080855:exon2:c.A217G:p.S73G,PXN:NM_001243756:exon2:c.A217G:p.S73G,PXN:NM_002859:exon2:c.A217G:p.S73G RS4767884 Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of GCN1L1 [transcript NM_006836, probe A_23_P406105] in liver:Gene expression of GCN1L1 in blood
12 121454257 2 C12orf43 T A exonic synonymous SNV C12orf43:NM_001286191:exon1:c.A21T:p.T7T,C12orf43:NM_001286192:exon1:c.A21T:p.T7T,C12orf43:NM_001286195:exon1:c.A21T:p.T7T,C12orf43:NM_001286196:exon1:c.A21T:p.T7T,C12orf43:NM_001286197:exon1:c.A21T:p.T7T,C12orf43:NM_022895:exon1:c.A21T:p.T7T RS2258227 LDL cholesterol:LDL cholesterol:Total cholesterol:Body mass index (BMI):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease
12 122248582 2 SETD1B C G exonic synonymous SNV SETD1B:NM_015048:exon5:c.C1731G:p.L577L
12 122326812 2 PSMD9 T C exonic nonsynonymous SNV PSMD9:NM_001261400:exon1:c.T50C:p.V17A,PSMD9:NM_002813:exon1:c.T50C:p.V17A RS2230681 Triglycerides:2 hour glucose:HOMA-B:Nicotine dependence (smoking):Escitalopram or Nortriptyline treated major depressive disorder:Partial epilepsy:Gene expression of WDR66 [probe ILMN_4287] in osteoblasts treated with dexamethasone:2-Hydroxyisobutyrate concentration:Gene expression of ENST00000391388 in blood:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Hypertension (early onset hypertension):Advanced age-related macular degeneration:Adiponectin levels
12 122353796 1 PSMD9 A G exonic nonsynonymous SNV PSMD9:NM_001261400:exon3:c.A275G:p.E92G,PSMD9:NM_002813:exon5:c.A590G:p.E197G RS14259 Gene expression of PSMD9 (probeID ILMN_1732767) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PSMD9 (probeID ILMN_1732767) in temporal cortex in Alzheimer's disease cases and controls
12 123333065 1 HIP1R C T exonic synonymous SNV HIP1R:NM_001303097:exon3:c.C210T:p.Y70Y,HIP1R:NM_001303099:exon3:c.C174T:p.Y58Y,HIP1R:NM_003959:exon3:c.C210T:p.Y70Y RS2135014 Microalbuminuria:Obesity with early age of onset (age >2)
12 123799974 1 SBNO1 A G exonic synonymous SNV SBNO1:NM_001167856:exon23:c.T3066C:p.G1022G,SBNO1:NM_018183:exon23:c.T3063C:p.G1021G RS6488868 Differential exon level expression of MPHOSPH9 [probe 3476020] in brain cortex:Fasting blood glucose:Rheumatoid arthritis:Gene expression of MPHOSPH9 in peripheral blood monocytes:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:2-Hydroxyisobutyrate concentration:Gene expression of SETD8 in blood:Gene expression of MPHOSPH9 in blood:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Infant head circumference:Years of education:Primary rhegmatogenous retinal detachment:Gene expression of SBNO1 in normal prepouch ileum:Gene expression of SBNO1 (ENSG00000139697) in dendritic cells:Advanced age-related macular degeneration (geographic atrophy):College completion
12 124008073 2 RILPL1 A G exonic synonymous SNV RILPL1:NM_001319243:exon2:c.T429C:p.N143N,RILPL1:NM_178314:exon2:c.T429C:p.N143N RS2292500 Renal cell carcinoma (renal cancer):Adiponectin levels
12 124069213 2 TMED2 T C exonic synonymous SNV TMED2:NM_001321445:exon1:c.T30C:p.L10L,TMED2:NM_006815:exon1:c.T30C:p.L10L
12 124829255 2 NCOR2 A G exonic synonymous SNV NCOR2:NM_001077261:exon33:c.T4572C:p.G1524G,NCOR2:NM_001206654:exon33:c.T4572C:p.G1524G,NCOR2:NM_006312:exon34:c.T4602C:p.G1534G
12 125284748 2 SCARB1 A G exonic synonymous SNV SCARB1:NM_001082959:exon8:c.T1050C:p.A350A,SCARB1:NM_005505:exon8:c.T1050C:p.A350A RS5888 Fasting blood glucose:HDL cholesterol:Radiation response to therapy (radiation AUC)
12 125397750 2 UBC A G exonic nonsynonymous SNV UBC:NM_021009:exon2:c.T568C:p.S190P
12 129293346 1 SLC15A4 C T exonic synonymous SNV SLC15A4:NM_145648:exon5:c.G1245A:p.S415S RS11059924 Fasting blood glucose:HOMA-B:LDL cholesterol:Microalbuminuria:Sporadic Creutzfeldt-Jakob disease:Birth weight
12 131276448 2 STX2 G T exonic nonsynonymous SNV STX2:NM_001351049:exon10:c.C800A:p.P267H
12 132237848 2 SFSWAP T C exonic nonsynonymous SNV SFSWAP:NM_001261411:exon8:c.T1262C:p.L421P,SFSWAP:NM_004592:exon8:c.T1262C:p.L421P
12 132271113 2 SFSWAP T C exonic synonymous SNV SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S
12 132396603 1 ULK1 C T exonic synonymous SNV ULK1:NM_003565:exon13:c.C1065T:p.D355D RS11616018 Fasting insulin:HOMA-IR
12 132402020 1 ULK1 T C exonic synonymous SNV ULK1:NM_003565:exon22:c.T2247C:p.P749P
12 132403161 2 ULK1 A G exonic nonsynonymous SNV ULK1:NM_003565:exon23:c.A2446G:p.T816A
12 132445670 1 EP400 G A exonic nonsynonymous SNV EP400:NM_015409:exon2:c.G506A:p.G169D
12 132446281 1 EP400 T C exonic nonsynonymous SNV EP400:NM_015409:exon2:c.T1117C:p.Y373H
12 133208979 2 POLE T C exonic synonymous SNV POLE:NM_006231:exon45:c.A6252G:p.S2084S RS5745022 Cystatin C in serum:Gene expression of POLE in Frontal cortex:Gene expression of POLE in Cerebellum:Gene expression of POLE in Temporal cortex:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and controls
12 133433173 2 CHFR T C exonic synonymous SNV CHFR:NM_001161347:exon8:c.A870G:p.R290R,CHFR:NM_001161344:exon10:c.A1146G:p.R382R,CHFR:NM_001161345:exon10:c.A1146G:p.R382R,CHFR:NM_001161346:exon10:c.A1110G:p.R370R,CHFR:NM_018223:exon10:c.A1023G:p.R341R RS2062163 Type 2 diabetes, combined control dataset:Abnormal Involuntary Movement Scale:Microalbuminuria
12 133634450 2 ZNF84 A C exonic synonymous SNV ZNF84:NM_001127372:exon5:c.A1149C:p.A383A,ZNF84:NM_001289971:exon5:c.A1149C:p.A383A,ZNF84:NM_001289972:exon5:c.A1149C:p.A383A,ZNF84:NM_003428:exon5:c.A1149C:p.A383A RS623100 Rheumatoid arthritis:Essential hypertension
12 133943258 1
12 152771509 2
13 20398669 2 ZMYM5 T C exonic nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.A1958G:p.H653R RS9508907 HDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Neuroblastoma (brain cancer):Gene expression of MPHOSPH8 in blood:Age at death with kuru exposure
13 20398742 2 ZMYM5 C T exonic nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.G1885A:p.V629I RS9508908 HDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Autism:Neuroblastoma (brain cancer):Gene expression of MPHOSPH8 in blood:Age at death with kuru exposure:Transmission distortion:Paternal transmission distortion
13 21205192 2 IFT88 G A exonic nonsynonymous SNV IFT88:NM_001318491:exon15:c.G1280A:p.S427N,IFT88:NM_006531:exon16:c.G1337A:p.S446N,IFT88:NM_001318493:exon17:c.G1364A:p.S455N,IFT88:NM_175605:exon18:c.G1364A:p.S455N RS9509307 HDL cholesterol:Gene expression of IFT88 [probe 3480411] in peripheral blood mononuclear cells:HDL cholesterol:Cystatin C in serum:Partial epilepsy:Gene expression of TTC10 in CD4+ lymphocytes:Gene expression of RP11-261P13.2 in blood:Gene expression of IFT88 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Years of education
13 21562832 2 LATS2 C T exonic nonsynonymous SNV LATS2:NM_014572:exon4:c.G1087A:p.G363S
13 21562948 1 LATS2 G A exonic nonsynonymous SNV LATS2:NM_014572:exon4:c.C971T:p.A324V RS558614 PROP taste detection threshold
13 21620085 2 LATS2 T C exonic synonymous SNV LATS2:NM_014572:exon2:c.A81G:p.K27K RS7317471 HOMA-B:HOMA-IR:Fasting insulin:Triglycerides:Height:Years of education:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
13 21732094 2 SKA3 C T exonic synonymous SNV SKA3:NM_001166017:exon7:c.G1086A:p.P362P,SKA3:NM_145061:exon7:c.G1086A:p.P362P RS4770121 HDL cholesterol:Maternal transmission distortion
13 23907677 2 SACS C T exonic synonymous SNV SACS:NM_001278055:exon8:c.G9897A:p.Q3299Q,SACS:NM_014363:exon10:c.G10338A:p.Q3446Q
13 23908034 2 SACS A G exonic synonymous SNV SACS:NM_001278055:exon8:c.T9540C:p.A3180A,SACS:NM_014363:exon10:c.T9981C:p.A3327A RS2737700 Triglycerides:Triglycerides:Waist hip ratio:Adiponectin levels:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 24411772 2 MIPEP T C exonic nonsynonymous SNV MIPEP:NM_005932:exon13:c.A1462G:p.S488G
13 25008588 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4691C:p.I1564T RS1372085 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold
13 25008630 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4649C:p.L1550P RS1822135 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Systolic blood pressure (SBP):PROP taste detection threshold
13 25008903 2 PARP4 G T exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.C4376A:p.S1459Y
13 25009099 2 PARP4 A C exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.T4180G:p.S1394A RS9511259 Spine bone mineral density (BMD):Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Partial epilepsy:Systolic blood pressure (SBP):PROP taste detection threshold
13 25009297 1 PARP4 G T exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.C3982A:p.P1328T RS1050112 Urinary free norepinephrine (nmol/d) in children
13 25009441 1 PARP4 C G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.G3838C:p.G1280R RS13428 Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Refractive error:Advanced age-related macular degeneration
13 25009485 1 PARP4 C G exonic nonsynonymous SNV PARP4:NM_006437:exon31:c.G3794C:p.G1265A RS1050110 Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Refractive error
13 25016008 1 PARP4 C T exonic synonymous SNV PARP4:NM_006437:exon30:c.G3642A:p.E1214E
13 25016092 1 PARP4 C T exonic synonymous SNV PARP4:NM_006437:exon30:c.G3558A:p.S1186S
13 25020863 2 PARP4 G A exonic nonsynonymous SNV PARP4:NM_006437:exon27:c.C3322T:p.R1108C RS9318554 Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Partial epilepsy
13 25021200 2 PARP4 A C exonic nonsynonymous SNV PARP4:NM_006437:exon26:c.T3239G:p.L1080R
13 25021211 2 PARP4 C T exonic synonymous SNV PARP4:NM_006437:exon26:c.G3228A:p.P1076P
13 25021245 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon26:c.T3194C:p.V1065A
13 25027744 2 PARP4 A G exonic nonsynonymous SNV PARP4:NM_006437:exon23:c.T2807C:p.M936T RS4770684 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Recurrent early onset major depressive disorder (males):Recurrent early onset major depressive disorder:Systolic blood pressure (SBP)
13 25029218 2 PARP4 C T exonic nonsynonymous SNV PARP4:NM_006437:exon22:c.G2695A:p.A899T RS2275660 Rheumatoid arthritis
13 25052261 1 PARP4 C T exonic synonymous SNV PARP4:NM_006437:exon13:c.G1602A:p.S534S
13 25075859 1 PARP4 C T exonic synonymous SNV PARP4:NM_006437:exon3:c.G246A:p.R82R RS1539096 Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
13 25831888 1 MTMR6 T C exonic nonsynonymous SNV MTMR6:NM_004685:exon8:c.A955G:p.I319V RS7995033 Eye color:Triglycerides:Schizophrenia:Lp-PLA2 mass:Total cholesterol:LDL cholesterol:Triglycerides:Neuroblastoma (brain cancer):Serum brain derived neurotrophic factor concentration:PROP taste detection threshold:Gene expression change of NUPL1 (ENSG00000139496) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of MTMR6 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
13 26788114 1 RNF6 A G exonic synonymous SNV RNF6:NM_005977:exon5:c.T1905C:p.C635C,RNF6:NM_183043:exon5:c.T1905C:p.C635C,RNF6:NM_183044:exon5:c.T1905C:p.C635C RS301047 Rheumatoid arthritis:Waist hip ratio:Bipolar disorder
13 28009851 1 MTIF3 G A exonic synonymous SNV MTIF3:NM_001166261:exon5:c.C798T:p.D266D,MTIF3:NM_001166262:exon5:c.C798T:p.D266D,MTIF3:NM_152912:exon5:c.C798T:p.D266D,MTIF3:NM_001166263:exon6:c.C798T:p.D266D RS7669 Rheumatoid arthritis:Gene expression of LRRC59 in peripheral blood monocytes:Gene expression of TEP1 in peripheral blood monocytes:Gene expression of ZNF93 in peripheral blood monocytes:Gene expression of ZNF813 in peripheral blood monocytes:Gene expression of PLCL1 in peripheral blood monocytes:Salmonella-induced pyroptosis
13 28143229 1 LNX2 A G exonic nonsynonymous SNV LNX2:NM_153371:exon3:c.T592C:p.S198P RS8002697 Irritible bowel syndrome:Gene expression of POLR1D in blood cells in Celiac disease:Eur students <30 Delayed Story Recall:HDL cholesterol:Gene expression of POLR1D in blood:Primary rhegmatogenous retinal detachment
13 28239940 1 POLR1D G C exonic synonymous SNV POLR1D:NM_001206559:exon3:c.G135C:p.A45A,POLR1D:NM_152705:exon3:c.G219C:p.A73A RS11029 HDL cholesterol:Response to Lithium Treatment for Bipolar disorder:Gene expression of POLR1D (probeID ILMN_1742427) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLR1D (probeID ILMN_1742427) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Obesity with early age of onset (age >2)
13 28239970 1 POLR1D G A exonic synonymous SNV POLR1D:NM_001206559:exon3:c.G165A:p.P55P,POLR1D:NM_152705:exon3:c.G249A:p.P83P RS14105 HDL cholesterol
13 30091714 2 SLC7A1 G A exonic synonymous SNV SLC7A1:NM_003045:exon10:c.C1506T:p.L502L RS2482089 Serum creatinine:Transmission distortion:Maternal transmission distortion:Mitral annular calcium
13 30091819 2 SLC7A1 G C exonic synonymous SNV SLC7A1:NM_003045:exon10:c.C1401G:p.G467G RS2482090 Serum creatinine:Mitral annular calcium
13 31036681 2 HMGB1 A G exonic synonymous SNV HMGB1:NM_001313892:exon4:c.T465C:p.Y155Y,HMGB1:NM_001313893:exon4:c.T465C:p.Y155Y,HMGB1:NM_002128:exon4:c.T465C:p.Y155Y
13 33703656 1 STARD13 T C exonic synonymous SNV STARD13:NM_001243466:exon5:c.A1134G:p.E378E,STARD13:NM_001243474:exon5:c.A804G:p.E268E,STARD13:NM_052851:exon5:c.A804G:p.E268E,STARD13:NM_178006:exon5:c.A1158G:p.E386E,STARD13:NM_178007:exon5:c.A1134G:p.E378E,STARD13:NM_001243476:exon9:c.A1053G:p.E351E RS495680 PROP taste detection threshold:Aortic valve calcium:Salmonella-induced pyroptosis
13 35615135 2 NBEA T C exonic synonymous SNV NBEA:NM_015678:exon2:c.T360C:p.C120C
13 35615150 2 NBEA G A exonic synonymous SNV NBEA:NM_015678:exon2:c.G375A:p.L125L
13 35630202 1 NBEA G A exonic nonsynonymous SNV NBEA:NM_015678:exon7:c.G1028A:p.R343Q
13 40229891 1 COG6 G A exonic nonsynonymous SNV COG6:NM_001145079:exon1:c.G28A:p.A10T,COG6:NM_020751:exon1:c.G28A:p.A10T RS3812882 Rheumatoid arthritis:Gene expression of COG6 in CD4+ lymphocytes:Gene expression of COG6 in blood:Tourette's syndrome:Parkinson's disease:Aortic valve calcium:Gene expression of COG6 in normal prepouch ileum
13 40229957 1 COG6 T A exonic nonsynonymous SNV COG6:NM_001145079:exon1:c.T94A:p.C32S,COG6:NM_020751:exon1:c.T94A:p.C32S RS3812883 Cystatin C in serum:Rheumatoid arthritis:Gene expression of COG6 in normal prepouch ileum:Aortic valve calcium
13 41705495 2 KBTBD6 A G exonic synonymous SNV KBTBD6:NM_152903:exon1:c.T1153C:p.L385L
13 41902939 2 NAA16 T C exonic synonymous SNV NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N RS3812896 HOMA-B:College completion:Adiponectin levels
13 43639845 1 DNAJC15 A C exonic synonymous SNV DNAJC15:NM_013238:exon2:c.A132C:p.G44G
13 46108853 2 COG3 T C exonic nonsynonymous SNV COG3:NM_031431:exon23:c.T2474C:p.L825S
13 46108854 2 COG3 G A exonic synonymous SNV COG3:NM_031431:exon23:c.G2475A:p.L825L
13 47260054 2 LRCH1 T C exonic nonsynonymous SNV LRCH1:NM_001164211:exon5:c.T700C:p.S234P,LRCH1:NM_001164213:exon5:c.T700C:p.S234P,LRCH1:NM_015116:exon5:c.T700C:p.S234P RS842381 Infant head circumference
13 47308109 2 LRCH1 A G exonic synonymous SNV LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A
13 48547467 2 SUCLA2 A T exonic nonsynonymous SNV SUCLA2:NM_003850:exon5:c.T595A:p.S199T RS7320366 Simpson-Angus Scale:Total cholesterol:HDL cholesterol change with statins:Gene expression of SUCLA2 (probeID ILMN_2150019) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SUCLA2 (probeID ILMN_2150019) in temporal cortex in Alzheimer's disease cases and controls
13 50057633 1 SETDB2;SETDB2-PHF11 A G exonic synonymous SNV SETDB2:NM_001160308:exon10:c.A1416G:p.Q472Q,SETDB2:NM_001320699:exon10:c.A1416G:p.Q472Q,SETDB2-PHF11:NM_001320727:exon10:c.A1416G:p.Q472Q,SETDB2:NM_031915:exon11:c.A1452G:p.Q484Q RS11619265 Arthritis including non-Rheumatoid:Total cholesterol:Neuroblastoma (brain cancer):Gene expression of PHF11 in blood:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in non-Alzheimer's disease samples:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases and controls
13 50080847 1 PHF11;SETDB2-PHF11 A G exonic synonymous SNV PHF11:NM_001040443:exon2:c.A171G:p.L57L,PHF11:NM_001040444:exon2:c.A54G:p.L18L,SETDB2-PHF11:NM_001320727:exon12:c.A1653G:p.L551L RS2031532 Neuroticism:Gene expression of PHF11 in peripheral blood monocytes:Gene expression of RCBTB1 in peripheral blood monocytes:Gene expression of DHRS13 in peripheral blood monocytes:Left ventricular mass (LV mass) index:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in non-Alzheimer's disease samples:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in non-Alzheimer's disease samples:Gene expression of RCBTB1 in normal prepouch ileum:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases
13 50123622 1 RCBTB1 G C exonic synonymous SNV RCBTB1:NM_018191:exon9:c.C1017G:p.P339P RS3751384 Myopia
13 50126382 1 RCBTB1 G A exonic synonymous SNV RCBTB1:NM_018191:exon7:c.C643T:p.L215L RS2274278 Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases and controls
13 50141345 1 RCBTB1 G A exonic nonsynonymous SNV RCBTB1:NM_018191:exon3:c.C71T:p.A24V RS4942848 Eye color:Premature ovarian failure:Total cholesterol:Gene expression of PHF11 in peripheral blood monocytes:Gene expression of RCBTB1 in peripheral blood monocytes:Gene expression of CUGBP1 in peripheral blood monocytes:Gene expression of EBPL in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Asthma:Alcohol consumption:Neuroblastoma (brain cancer):Gene expression of PHF11 in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in non-Alzheimer's disease samples:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases:Myopia:Gene expression of PHF11 (probeID ILMN_2390162) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PHF11 (probeID ILMN_2390162) in temporal cortex in Progressive Supranuclear Palsy cases
13 50296115 2 KPNA3 C T exonic synonymous SNV KPNA3:NM_002267:exon9:c.G702A:p.P234P RS1127021 HDL cholesterol:Fat mass change (kg/y) in children
13 52709938 1 NEK3 A C exonic synonymous SNV NEK3:NM_001146099:exon13:c.T1185G:p.P395P,NEK3:NM_002498:exon14:c.T1236G:p.P412P,NEK3:NM_152720:exon14:c.T1236G:p.P412P RS2296351 Alzheimer's disease:HDL cholesterol:Gene expression of UTP14C in blood:Years of education
13 53035783 2 CKAP2 T C exonic synonymous SNV CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T
13 53035925 2 CKAP2 A G exonic nonsynonymous SNV CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V
13 53217035 1 HNRNPA1L2 C A exonic synonymous SNV HNRNPA1L2:NM_001011725:exon6:c.C408A:p.I136I,HNRNPA1L2:NM_001011724:exon7:c.C408A:p.I136I RS9536211 Body mass index (BMI):Gene expression of LOC220115 (probeID ILMN_2184525) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LOC220115 (probeID ILMN_2184525) in temporal cortex in non-Alzheimer's disease samples:Gene expression of LOC220115 (probeID ILMN_2184525) in temporal cortex in Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression of LOC220115 (probeID ILMN_2184525) in cerebellum in Alzheimer's disease cases:Gene expression of LOC220115 (probeID ILMN_2184525) in temporal cortex in Alzheimer's disease cases:Aortic valve calcium
13 57405163 2
13 73349359 1 DIS3 G C exonic nonsynonymous SNV DIS3:NM_001322348:exon5:c.C608G:p.T203R,DIS3:NM_001128226:exon6:c.C887G:p.T296R,DIS3:NM_014953:exon6:c.C977G:p.T326R,DIS3:NM_001322349:exon7:c.C491G:p.T164R RS7332388 Fasting blood glucose:Height:Systolic blood pressure (SBP):Mitral annular calcium
13 75876389 1 TBC1D4 G A exonic synonymous SNV TBC1D4:NM_001286659:exon14:c.C2712T:p.L904L,TBC1D4:NM_001286658:exon15:c.C2877T:p.L959L,TBC1D4:NM_014832:exon16:c.C2901T:p.L967L RS2297208 Gene expression of TBC1D4 in CEU lymphoblastoid cell lines:Gene expression of TBC1D4 [probe 203387_s_at] in lymphoblastoid cell lines:Gene expression of TBC1D4 in Lymphoblastoid cell lines:Fasting blood glucose:Chronic kidney disease:Cystatin C in serum:Rheumatoid arthritis:Urinary albumin-to-creatinine ratio:Microalbuminuria:Late onset Alzheimer's disease:Gene expression of TBC1D4 in blood
13 75884216 2 TBC1D4 C T exonic nonsynonymous SNV TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I RS1062087 Partial epilepsy:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 75936519 2 TBC1D4 C G exonic synonymous SNV TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G
13 76397731 1 LMO7 G A exonic nonsynonymous SNV LMO7:NM_015842:exon12:c.G1972A:p.V658I,LMO7:NM_001330583:exon13:c.G1972A:p.V658I,LMO7:NM_005358:exon14:c.G1825A:p.V609I,LMO7:NM_001306080:exon15:c.G2671A:p.V891I RS4884021 LDL cholesterol:Cystatin C in serum:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
13 95714976 2 ABCC4 C T exonic synonymous SNV ABCC4:NM_001301829:exon25:c.G3207A:p.K1069K,ABCC4:NM_005845:exon26:c.G3348A:p.K1116K RS1751034 HDL cholesterol change with statins:Total cholesterol:Chronic kidney disease:Triglycerides:Total cholesterol:LDL cholesterol:Microalbuminuria:Paternal transmission distortion
13 95726541 2 ABCC4 A G exonic synonymous SNV ABCC4:NM_001301829:exon22:c.T2703C:p.F901F,ABCC4:NM_005845:exon23:c.T2844C:p.F948F RS1189466 HDL cholesterol:Cystatin C in serum
13 95727780 2 ABCC4 T C exonic synonymous SNV ABCC4:NM_001301829:exon21:c.A2571G:p.L857L,ABCC4:NM_005845:exon22:c.A2712G:p.L904L RS1678339 HDL cholesterol:Cystatin C in serum
13 96540204 2 UGGT2 T G exonic nonsynonymous SNV UGGT2:NM_020121:exon26:c.A2980C:p.M994L RS12876018 Differential exon level expression of UGCGL2 [probeset 3521542] in brain cortex:Barnes Akathisia Rating Scale:Triglycerides:Waist hip ratio:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 96638636 2 UGGT2 A C exonic nonsynonymous SNV UGGT2:NM_020121:exon9:c.T982G:p.S328A RS816142 Childhood acute lymphoblastic leukemia:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum:Gene expression of UGCGL2 in peripheral blood monocytes:HDL cholesterol:Height
13 99112680 2 STK24 C T exonic synonymous SNV STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P
13 100518580 2 CLYBL A G exonic nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V RS3783185 Irritible bowel syndrome:Rheumatoid arthritis:Schizophrenia:Fasting blood glucose:Gene expression of CLYBL in peripheral blood monocytes:Gene expression of ZNF768 in peripheral blood monocytes:Gene expression of XPA in peripheral blood monocytes:Autism:Gene expression of CLYBL in blood:Birth weight:Primary rhegmatogenous retinal detachment
13 101287365 2 TMTC4 T C exonic synonymous SNV TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A RS946838 LDL cholesterol change with statins:Total cholesterol change with statins:Mitral annular calcium
13 103527849 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R
13 103527930 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R
13 111155773 2 COL4A2 T C exonic synonymous SNV COL4A2:NM_001846:exon43:c.T4083C:p.T1361T
13 111176393 2 RAB20 A G exonic synonymous SNV RAB20:NM_017817:exon2:c.T324C:p.F108F RS419244 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Premature ovarian failure:Fasting blood glucose:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold
13 111368164 2 ING1 T G exonic nonsynonymous SNV ING1:NM_005537:exon1:c.T374G:p.L125R
13 111368316 2 ING1 C T exonic synonymous SNV ING1:NM_005537:exon1:c.C526T:p.L176L
13 113527967 1 ATP11A G A exonic synonymous SNV ATP11A:NM_015205:exon27:c.G3138A:p.S1046S,ATP11A:NM_032189:exon27:c.G3138A:p.S1046S
13 113801737 2 F10 C T exonic synonymous SNV F10:NM_001312674:exon6:c.C660T:p.T220T,F10:NM_000504:exon7:c.C792T:p.T264T,F10:NM_001312675:exon7:c.C792T:p.T264T RS5960 Prostate cancer:LDL cholesterol:Simpson-Angus Scale:Serum creatinine:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
13 114780764 2 RASA3 A G exonic synonymous SNV RASA3:NM_001320822:exon14:c.T1230C:p.T410T,RASA3:NM_007368:exon14:c.T1326C:p.T442T,RASA3:NM_001320821:exon16:c.T177C:p.T59T RS2274717 Height:Microalbuminuria
13 149680554 2
14 20770036 1 TTC5 T C exonic nonsynonymous SNV TTC5:NM_138376:exon2:c.A140G:p.Q47R RS3742945 Triglycerides:Differential exon level expression of PARP2 [probe 3527423] in brain cortex:Differential exon level expression of TEP1 [probe 3555416] in brain cortex:Differential exon level expression of PARP2 [probe 3527423] in peripheral blood mononuclear cells:Serum creatinine:Gene expression of TTC5 in peripheral blood monocytes:Gene expression of PARP2 in peripheral blood monocytes:Gene expression of RPPH1 in peripheral blood monocytes:Gene expression of TTC5 in blood:Obesity with early age of onset (age >2)
14 20824181 1 PARP2 T C exonic synonymous SNV PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y RS3093930 Longstanding arthritis:LDL cholesterol:Differential exon level expression of PARP2 [probe 3527423] in brain cortex:Gene expression of RPPH1 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Gene expression of TTC5 in blood:Obesity with early age of onset (age >2)
14 20854734 2 TEP1 A G exonic synonymous SNV TEP1:NM_001319035:exon17:c.T2409C:p.H803H,TEP1:NM_007110:exon19:c.T2733C:p.H911H RS945011 Cystatin C in serum
14 21551069 2 ARHGEF40 T C exonic nonsynonymous SNV ARHGEF40:NM_001278529:exon16:c.T1424C:p.L475S,ARHGEF40:NM_001278530:exon16:c.T1424C:p.L475S,ARHGEF40:NM_018071:exon16:c.T3566C:p.L1189S RS1958396 Irritible bowel syndrome:Longstanding arthritis:Gene expression of RNASE2 [probe ILMN_10025] in osteoblasts treated with BMP2:Gene expression of RNASE2 [probe ILMN_10025] in osteoblasts treated with dexamethasone:Resistance to kuru in aged women despite likely exposure
14 21570614 2 TMEM253 A C exonic synonymous SNV TMEM253:NM_001146683:exon6:c.A327C:p.I109I RS4982408 Alzheimer's disease:HDL cholesterol change with statins
14 21871653 1 CHD8 C T exonic synonymous SNV CHD8:NM_001170629:exon16:c.G3477A:p.V1159V,CHD8:NM_020920:exon17:c.G2640A:p.V880V RS8022395 HOMA-B
14 23240328 1 OXA1L T A exonic synonymous SNV OXA1L:NM_005015:exon8:c.T1221A:p.R407R RS8786 Bipolar disorder, gender differentiated:Waist hip ratio
14 23242828 2 SLC7A7 T C exonic synonymous SNV SLC7A7:NM_001126105:exon11:c.A1527G:p.K509K,SLC7A7:NM_001126106:exon11:c.A1527G:p.K509K RS1061040 LDL cholesterol:LDL cholesterol:Total cholesterol:Age at death with kuru exposure:Refractive error
14 23306048 2 MMP14 C T exonic nonsynonymous SNV MMP14:NM_004995:exon1:c.C22T:p.P8S RS1042703 Fasting blood glucose:HOMA-IR:Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:PROP taste detection threshold
14 23530622 1 ACIN1 T C exonic synonymous SNV ACIN1:NM_001164816:exon10:c.A1302G:p.S434S,ACIN1:NM_001164817:exon11:c.A1209G:p.S403S,ACIN1:NM_001164815:exon16:c.A3363G:p.S1121S,ACIN1:NM_001164814:exon17:c.A3444G:p.S1148S,ACIN1:NM_014977:exon17:c.A3483G:p.S1161S
14 23549319 1 ACIN1 A G exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.T1279C:p.S427P,ACIN1:NM_001164814:exon6:c.T1399C:p.S467P,ACIN1:NM_014977:exon6:c.T1399C:p.S467P RS1885097 HDL cholesterol:Gene expression of SNTB1 in peripheral blood monocytes:HDL cholesterol:Height:Parkinson's disease
14 23549379 2 ACIN1 C G exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.G1219C:p.A407P,ACIN1:NM_001164814:exon6:c.G1339C:p.A447P,ACIN1:NM_014977:exon6:c.G1339C:p.A447P
14 23549785 1 ACIN1 T C exonic nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A813G:p.I271M,ACIN1:NM_001164814:exon6:c.A933G:p.I311M,ACIN1:NM_014977:exon6:c.A933G:p.I311M RS3811182 HDL cholesterol:Triglycerides:HOMA-B:Parkinson's disease
14 23745533 1 HOMEZ C T exonic nonsynonymous SNV HOMEZ:NM_020834:exon2:c.G904A:p.A302T RS10131813 Tardive dyskinesia:Waist hip ratio:Bipolar disorder:Obesity with early age of onset (age >2):Parkinson's disease
14 23777374 2 BCL2L2;BCL2L2-PABPN1 A G exonic nonsynonymous SNV BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R RS910332 Systolic blood pressure (SBP):Birth weight
14 23944505 2 NGDN G A exonic synonymous SNV NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V RS2236260 Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis
14 23944514 2 NGDN C A exonic synonymous SNV NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R
14 24567498 2 PCK2 A C exonic nonsynonymous SNV PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P
14 24614361 2 PSME2 T G exonic nonsynonymous SNV PSME2:NM_002818:exon6:c.A266C:p.H89P RS7146672 Gene expression of SLC22A16 in peripheral blood monocytes
14 24736027 1 RABGGTA G A exonic synonymous SNV RABGGTA:NM_004581:exon14:c.C1422T:p.R474R,RABGGTA:NM_182836:exon15:c.C1422T:p.R474R RS14193 Gene expression of ADCY4 in peripheral blood monocytes:Gene expression of RABGGTA in peripheral blood monocytes:Gene expression of LTB4R2 [transcript NM_019839, probe A_23_P163173] in liver:Gene expression of RABGGTA (probeID ILMN_2299221) in breast tumors
14 24736961 1 RABGGTA T C exonic nonsynonymous SNV RABGGTA:NM_004581:exon13:c.A1258G:p.T420A,RABGGTA:NM_182836:exon14:c.A1258G:p.T420A RS729421 Differential splicing of RABGGTA [probeset 3558081] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Gene expression of RABGGTA in normal prepouch ileum:Advanced age-related macular degeneration:Refractive error:Parkinson's disease:Aortic valve calcium:Gene expression of DHRS1 in normal prepouch ileum
14 24901249 1 KHNYN A C exonic nonsynonymous SNV KHNYN:NM_001290256:exon3:c.A905C:p.K302T,KHNYN:NM_001290257:exon3:c.A782C:p.K261T,KHNYN:NM_015299:exon3:c.A782C:p.K261T RS3742520 Cystatin C in serum:Serum creatinine:Methylation levels at chr14:23969834-23969884 [hg18 coord, probe cg13105904] in Caudal pons:LDL cholesterol:Total cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of KIAA0323 in blood:Gene expression of GZMB in blood:Gene expression of CTSG in blood:Gene expression of CBLN3 in blood:Gene expression of CBLN3 [probeset 235221_at] in sputum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 24901276 2 KHNYN G T exonic nonsynonymous SNV KHNYN:NM_001290256:exon3:c.G932T:p.W311L,KHNYN:NM_001290257:exon3:c.G809T:p.W270L,KHNYN:NM_015299:exon3:c.G809T:p.W270L RS7151995 Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 24909362 2 SDR39U1 T C exonic nonsynonymous SNV SDR39U1:NM_001290292:exon5:c.A563G:p.Q188R,SDR39U1:NM_001290293:exon5:c.A485G:p.Q162R,SDR39U1:NM_001308075:exon5:c.A563G:p.Q188R,SDR39U1:NM_020195:exon6:c.A809G:p.Q270R RS1043831 Gene expression of probe 230017_at in lymphoblastoid cell lines:Triglycerides:Systolic blood pressure (SBP):Mitral annular calcium
14 24909475 2 SDR39U1 C G exonic nonsynonymous SNV SDR39U1:NM_001290292:exon5:c.G450C:p.L150F,SDR39U1:NM_001290293:exon5:c.G372C:p.L124F,SDR39U1:NM_001308075:exon5:c.G450C:p.L150F,SDR39U1:NM_020195:exon6:c.G696C:p.L232F RS3211056 Gene expression of probe 230017_at in lymphoblastoid cell lines:Advanced age-related macular degeneration:Mitral annular calcium
14 24910973 2 SDR39U1 T G exonic nonsynonymous SNV SDR39U1:NM_020195:exon4:c.A235C:p.I79L RS11625819 Gene expression of probe 230017_at in lymphoblastoid cell lines:Schizophrenia:Differential exon level expression of C14orf124 [probeset 3558301] in brain cortex:Differential exon level expression of C14orf124 [probeset 3558301] in peripheral blood mononuclear cells:Gene expression of C14orf124 [probe ILMN_4144] in osteoblasts:Neuroblastoma (brain cancer):Gene expression of KIAA0323 in blood:Gene expression of KIAA0323///C14orf124 in blood:Gene expression of C14orf124 in blood:Gene expression of [probe 1410092 centered at chr14:24043083] in blood:Mitral annular calcium:Advanced age-related macular degeneration:Gene expression of SDR39U1 in normal prepouch ileum
14 24910974 2 SDR39U1 T A exonic synonymous SNV SDR39U1:NM_020195:exon4:c.A234T:p.V78V
14 31355096 1 COCH C G exonic nonsynonymous SNV COCH:NM_001135058:exon10:c.C1055G:p.T352S,COCH:NM_001347720:exon10:c.C1250G:p.T417S,COCH:NM_004086:exon11:c.C1055G:p.T352S RS1045644 Mitral annular calcium
14 31381351 2 STRN3 T C exonic nonsynonymous SNV STRN3:NM_014574:exon9:c.A1160G:p.N387S,STRN3:NM_001083893:exon11:c.A1412G:p.N471S RS2273171 Hip bone mineral density (BMD):Irritible bowel syndrome:Serum creatinine:Gene expression of STRN3 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Bipolar disorder:Coronary artery disease (CAD):Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 31578762 1 HECTD1 C T exonic synonymous SNV HECTD1:NM_015382:exon36:c.G6321A:p.E2107E RS17097735 Irritible bowel syndrome:Abnormal Involuntary Movement Scale:Gene expression of ARHGAP5 [probe 217936_at] in prefrontal cortex:LDL cholesterol:Parkinson's disease:Aortic valve calcium:Gene expression change of HECTD1 (ENSG00000092148) in dendritic cells after treatment with Mycobacterium tuberculosis:Prostate cancer
14 31582380 2 HECTD1 A G exonic nonsynonymous SNV HECTD1:NM_015382:exon34:c.T6080C:p.L2027P
14 31582526 1 HECTD1 T C exonic synonymous SNV HECTD1:NM_015382:exon33:c.A6021G:p.L2007L RS2273483 Total cholesterol:Body mass index (BMI):Gene expression of AP4S1 [transcript NM_007077, probe A_24_P12281] in liver:College completion:Prostate cancer
14 31619392 1 HECTD1 T C exonic synonymous SNV HECTD1:NM_015382:exon13:c.A1968G:p.Q656Q RS11620816 Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Prostate cancer:Birth weight
14 31647241 1 HECTD1 G A exonic synonymous SNV HECTD1:NM_015382:exon3:c.C360T:p.A120A RS2274201 Premature ovarian failure:Lp-PLA2 activity:Prostate cancer
14 31819913 2 HEATR5A A G exonic synonymous SNV HEATR5A:NM_015473:exon17:c.T2422C:p.L808L RS7158257 College completion:Mitral annular calcium
14 31864485 2 HEATR5A G C exonic nonsynonymous SNV HEATR5A:NM_015473:exon5:c.C517G:p.P173A
14 35062312 2 SNX6 C T exonic synonymous SNV SNX6:NM_021249:exon7:c.G309A:p.E103E,SNX6:NM_152233:exon8:c.G693A:p.E231E RS12432539 Paternal transmission distortion:Salmonella-induced pyroptosis
14 35242828 1 BAZ1A G A exonic synonymous SNV BAZ1A:NM_182648:exon19:c.C3006T:p.D1002D,BAZ1A:NM_013448:exon20:c.C3102T:p.D1034D RS2275145 Irritible bowel syndrome:Rheumatoid arthritis:Triglycerides change with statins:Total cholesterol change with statins
14 35592538 1 KIAA0391 C G exonic synonymous SNV KIAA0391:NM_001256678:exon2:c.C87G:p.V29V,KIAA0391:NM_014672:exon2:c.C87G:p.V29V RS941653 Rheumatoid arthritis:College completion:Years of education
14 36789729 2 MBIP T G exonic nonsynonymous SNV MBIP:NM_001144891:exon1:c.A66C:p.R22S,MBIP:NM_001308110:exon1:c.A66C:p.R22S,MBIP:NM_016586:exon1:c.A66C:p.R22S RS3168891 Triglycerides change with statins
14 39517925 1 SEC23A T C exonic synonymous SNV SEC23A:NM_006364:exon15:c.A1668G:p.K556K RS12895000 Triglycerides:Total cholesterol:LDL cholesterol:Triglycerides:Systolic blood pressure (SBP)
14 39556185 1 SEC23A G C exonic nonsynonymous SNV SEC23A:NM_006364:exon6:c.C631G:p.L211V RS8018720 Tardive dyskinesia:Simpson-Angus Scale:Rheumatoid arthritis:Aortic valve calcium
14 39650234 2 PNN A T exonic nonsynonymous SNV PNN:NM_002687:exon9:c.A1321T:p.T441S RS2180792 HDL cholesterol:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood glucose:Triglycerides change with statins:Total cholesterol
14 39650924 1 PNN A G exonic nonsynonymous SNV PNN:NM_002687:exon9:c.A2011G:p.S671G RS13021 Differential exon level expression of SEC23A [probe 3561985] in brain cortex:Differential exon level expression of SEC23A [probe 3561985] in peripheral blood mononuclear cells:Premature ovarian failure:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of SS18 in Temporal cortex:Allergic rhinitis:Atopy:Gene expression of CTAGE5 in blood:Gene expression of PNN in blood:Gene expression of TRAPPC6B in blood:Years of education:College completion
14 39736680 2 MIA2 T C exonic nonsynonymous SNV MIA2:NM_001247989:exon1:c.T17C:p.V6A,MIA2:NM_005930:exon1:c.T17C:p.V6A,MIA2:NM_203355:exon1:c.T17C:p.V6A RS7140561 Autism without verbal ability
14 39777676 1 MIA2 G C exonic nonsynonymous SNV MIA2:NM_001247988:exon13:c.G991C:p.E331Q,MIA2:NM_001247989:exon13:c.G1093C:p.E365Q,MIA2:NM_001247990:exon13:c.G853C:p.E285Q,MIA2:NM_005930:exon13:c.G1078C:p.E360Q,MIA2:NM_203354:exon13:c.G1042C:p.E348Q,MIA2:NM_203355:exon13:c.G1078C:p.E360Q,MIA2:NM_203356:exon13:c.G991C:p.E331Q,MIA2:NM_001329214:exon18:c.G2902C:p.E968Q RS1950952 HDL cholesterol:Triglycerides:Triglycerides:Waist hip ratio:Systolic blood pressure (SBP):Obesity with early age of onset (age >2)
14 50251369 2 NEMF A G exonic synonymous SNV NEMF:NM_001301732:exon32:c.T3153C:p.N1051N,NEMF:NM_004713:exon33:c.T3216C:p.N1072N
14 50298962 2 NEMF T A exonic nonsynonymous SNV NEMF:NM_001301732:exon9:c.A769T:p.S257C,NEMF:NM_004713:exon9:c.A769T:p.S257C
14 51237701 2 NIN A G exonic synonymous SNV NIN:NM_016350:exon11:c.T1128C:p.V376V,NIN:NM_020921:exon11:c.T1128C:p.V376V,NIN:NM_182944:exon11:c.T1128C:p.V376V,NIN:NM_182946:exon11:c.T1128C:p.V376V RS17793018 LDL cholesterol:HOMA-B:Gene expression of TEAD1 in peripheral blood monocytes:Bipolar disorder in alcoholics:Adiponectin levels:Parkinson's disease
14 51239067 2 NIN C G exonic synonymous SNV NIN:NM_016350:exon9:c.G933C:p.L311L,NIN:NM_020921:exon9:c.G933C:p.L311L,NIN:NM_182944:exon9:c.G933C:p.L311L,NIN:NM_182946:exon9:c.G933C:p.L311L
14 51383432 2 PYGL G A exonic synonymous SNV PYGL:NM_001163940:exon8:c.C918T:p.D306D,PYGL:NM_002863:exon9:c.C1020T:p.D340D RS2075643 Serum creatinine:Gene expression of PYGL (ENSG00000100504) in dendritic cells
14 55605036 2 LGALS3 A C exonic nonsynonymous SNV LGALS3:NM_001177388:exon3:c.A292C:p.T98P,LGALS3:NM_002306:exon3:c.A292C:p.T98P RS4652 Circulating galectin-3 levels:LGALS3 gene expression levels:Advanced age-related macular degeneration (geographic atrophy)
14 55817708 2 FBXO34 T C exonic synonymous SNV FBXO34:NM_017943:exon2:c.T600C:p.Y200Y,FBXO34:NM_152231:exon2:c.T600C:p.Y200Y RS10144418 Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Aortic valve calcium:Circulating galectin-3 levels
14 55818517 2 FBXO34 T A exonic nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1409A:p.I470N,FBXO34:NM_152231:exon2:c.T1409A:p.I470N RS1045002 Circulating galectin-3 levels:Advanced age-related macular degeneration (geographic atrophy)
14 55818706 2 FBXO34 T C exonic nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1598C:p.L533P,FBXO34:NM_152231:exon2:c.T1598C:p.L533P RS3742569 Partial epilepsy:Gene expression of LGALS3 in blood:Sporadic Creutzfeldt-Jakob disease:Circulating galectin-3 levels:Glioma:Gene expression of FBXO34 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
14 57099859 2 TMEM260 G A exonic nonsynonymous SNV TMEM260:NM_017799:exon13:c.G1694A:p.S565N RS1041316 Schizophrenia:Body mass index (BMI):PROP taste detection threshold
14 58917454 2 KIAA0586 G A exonic synonymous SNV KIAA0586:NM_001244193:exon5:c.G699A:p.S233S,KIAA0586:NM_001244191:exon8:c.G864A:p.S288S,KIAA0586:NM_001329943:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329944:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329945:exon8:c.G864A:p.S288S,KIAA0586:NM_001329946:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329947:exon8:c.G1119A:p.S373S,KIAA0586:NM_014749:exon8:c.G1119A:p.S373S,KIAA0586:NM_001244190:exon9:c.G1074A:p.S358S,KIAA0586:NM_001244192:exon9:c.G987A:p.S329S,KIAA0586:NM_001244189:exon10:c.G1278A:p.S426S
14 58937416 2 KIAA0586 T C exonic nonsynonymous SNV KIAA0586:NM_001244193:exon14:c.T2108C:p.L703P,KIAA0586:NM_014749:exon16:c.T2300C:p.L767P,KIAA0586:NM_001244191:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329943:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329944:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329945:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329946:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329947:exon17:c.T2528C:p.L843P,KIAA0586:NM_001244190:exon18:c.T2483C:p.L828P,KIAA0586:NM_001244192:exon18:c.T2396C:p.L799P,KIAA0586:NM_001244189:exon19:c.T2687C:p.L896P
14 58953746 2 KIAA0586 C G exonic nonsynonymous SNV KIAA0586:NM_001244193:exon19:c.C2746G:p.P916A,KIAA0586:NM_014749:exon21:c.C2938G:p.P980A,KIAA0586:NM_001244191:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329943:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329944:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329945:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329946:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329947:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001244190:exon23:c.C3121G:p.P1041A,KIAA0586:NM_001244192:exon23:c.C3034G:p.P1012A,KIAA0586:NM_001244189:exon24:c.C3325G:p.P1109A
14 59797235 2 DAAM1 A G exonic synonymous SNV DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q RS941884 Triglycerides:Triglycerides change with statins:Total cholesterol:Height:Waist hip ratio
14 60581863 2 PCNX4 G A exonic synonymous SNV PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P RS219314 Triglycerides change with statins:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60581935 2 PCNX4 C T exonic synonymous SNV PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S RS150687 Triglycerides change with statins:PROP taste detection threshold:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60582053 2 PCNX4 G A exonic nonsynonymous SNV PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I RS150688 Triglycerides change with statins:Gene expression of C14orf135 (ENSG00000126773) in dendritic cells:Gene expression of DHRS7 in normal prepouch ileum
14 61445967 2 TRMT5 A G exonic nonsynonymous SNV TRMT5:NM_001350253:exon2:c.T733C:p.S245P,TRMT5:NM_001350254:exon2:c.T730C:p.S244P,TRMT5:NM_020810:exon2:c.T649C:p.S217P
14 61997226 2 PRKCH C T exonic synonymous SNV PRKCH:NM_006255:exon12:c.C1674T:p.N558N RS1088680 Schizophrenia:HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:Cystatin C in serum:Height:Rheumatoid arthritis:Paternal transmission distortion:Aortic valve calcium
14 64612858 2 SYNE2 C A exonic nonsynonymous SNV SYNE2:NM_015180:exon84:c.C15556A:p.L5186M,SYNE2:NM_182914:exon84:c.C15556A:p.L5186M RS10151658 HOMA-B
14 64935720 2 AKAP5 C T exonic nonsynonymous SNV AKAP5:NM_004857:exon2:c.C608T:p.T203I
14 66028446 2 FUT8 A G exonic synonymous SNV FUT8:NM_178156:exon2:c.A165G:p.Q55Q,FUT8:NM_178155:exon3:c.A165G:p.Q55Q RS2229677 Fasting insulin:HOMA-B:HDL cholesterol:Gene expression of FUT8 in blood:Desialylated Glycan Peak 6:Desialylated Glycan Peak 1:Glycan Peak 10:Glycan Peak 10 in women:Mitral annular calcium:IGP42:IGP2
14 68029313 2 PLEKHH1 G A exonic nonsynonymous SNV PLEKHH1:NM_020715:exon7:c.G965A:p.R322Q RS2236235 LDL cholesterol:Triglycerides:Advanced age-related macular degeneration (geographic atrophy)
14 68234539 2 ZFYVE26 T C exonic nonsynonymous SNV ZFYVE26:NM_015346:exon31:c.A5672G:p.N1891S
14 69703158 2 EXD2 A G exonic synonymous SNV EXD2:NM_018199:exon6:c.A816G:p.L272L,EXD2:NM_001193361:exon7:c.A1191G:p.L397L,EXD2:NM_001193363:exon7:c.A1191G:p.L397L,EXD2:NM_001193360:exon8:c.A1191G:p.L397L,EXD2:NM_001193362:exon8:c.A1191G:p.L397L RS3211166 Gene expression of WDR22 [probe 1554558_at] in lymphoblastoid cell lines:Total cholesterol:Autism with high IQ:Urinary albumin-to-creatinine ratio:College completion:Advanced age-related macular degeneration:Years of education
14 69704553 2 EXD2 G T exonic nonsynonymous SNV EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H RS8007859 Years of education:College completion
14 71374702 2 PCNX1 G A exonic synonymous SNV PCNX1:NM_001308160:exon1:c.G135A:p.L45L,PCNX1:NM_014982:exon1:c.G135A:p.L45L
14 72117156 2 SIPA1L1 T C exonic synonymous SNV SIPA1L1:NM_001284247:exon4:c.T1923C:p.F641F,SIPA1L1:NM_001284245:exon5:c.T1923C:p.F641F,SIPA1L1:NM_001284246:exon5:c.T1923C:p.F641F,SIPA1L1:NM_015556:exon5:c.T1923C:p.F641F RS8017465 Spine bone mineral density (BMD):Suicide attempts in bipolar disorder (females):Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
14 73957772 2 RIOX1 A G exonic unknown UNKNOWN
14 73958375 2 RIOX1 T C exonic unknown UNKNOWN RS758109 Chronic kidney disease:Triglycerides:Gene expression of HEATR4 in normal prepouch ileum:Years of education:Birth weight:College completion
14 73958812 2 RIOX1 T C exonic unknown UNKNOWN RS3813563 Simpson-Angus Scale:Serum creatinine:Height:Gene expression of C14orf169 [transcript NM_024644, probe A_23_P163117] in liver:College completion:Years of education
14 74206481 2 ELMSAN1 T C exonic synonymous SNV ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,ELMSAN1:NM_194278:exon2:c.A231G:p.V77V RS758774 PROP taste detection threshold
14 74514674 2 BBOF1 A T exonic nonsynonymous SNV BBOF1:NM_025057:exon7:c.A689T:p.D230V RS3784038 HOMA-B:Fasting insulin:HOMA-IR:Rheumatoid arthritis
14 75513883 2 MLH3 T C exonic nonsynonymous SNV MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D
14 77697967 2 TMEM63C A G exonic synonymous SNV TMEM63C:NM_020431:exon7:c.A387G:p.A129A
14 77745193 2 POMT2 A C exonic synonymous SNV POMT2:NM_013382:exon19:c.T1911G:p.L637L RS3209079 Total cholesterol:LDL cholesterol:Gene expression of POMT2 (ENSG00000009830) in dendritic cells treated with Mycobacterium tuberculosis
14 77751925 2 POMT2 C T exonic synonymous SNV POMT2:NM_013382:exon13:c.G1383A:p.R461R RS2270419 Fasting blood glucose:Obesity with early age of onset (age >2)
14 77794283 2 GSTZ1 T C exonic nonsynonymous SNV GSTZ1:NM_145870:exon5:c.T245C:p.M82T,GSTZ1:NM_001312660:exon6:c.T80C:p.M27T RS1046428 Irritible bowel syndrome:Gene expression of C14orf174 in CD4+ lymphocytes:Gene expression of C14orf133 in blood:Variant Creutzfeldt-Jakob disease
14 77926011 2 AHSA1 C T exonic synonymous SNV AHSA1:NM_012111:exon2:c.C133T:p.L45L RS1061629 Total cholesterol:Triglycerides:HDL cholesterol:College completion:Gene expression of C14orf174 (ENSG00000100583) in dendritic cells treated with Mycobacterium tuberculosis
14 77928525 2 AHSA1 A G exonic synonymous SNV AHSA1:NM_012111:exon3:c.A294G:p.Q98Q RS1061638 Gene expression of TMED8 [probe 3573029] in peripheral blood mononuclear cells:Total cholesterol:Gene expression of C14orf133 in blood:Years of education
14 77935520 2 AHSA1 G A exonic synonymous SNV AHSA1:NM_001321441:exon9:c.G540A:p.T180T,AHSA1:NM_012111:exon9:c.G945A:p.T315T RS7250 Total cholesterol:Triglycerides:College completion
14 78028803 2 SPTLC2 A G exonic synonymous SNV SPTLC2:NM_004863:exon6:c.T786C:p.N262N RS2364602 Gene expression of GSTZ1 in blood
14 78174473 2 SLIRP A C exonic synonymous SNV SLIRP:NM_001267863:exon1:c.A19C:p.R7R,SLIRP:NM_001267864:exon1:c.A19C:p.R7R,SLIRP:NM_031210:exon1:c.A19C:p.R7R RS11159286 Chronic kidney disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 86088056 2 FLRT2 T C exonic synonymous SNV FLRT2:NM_001346143:exon2:c.T198C:p.T66T,FLRT2:NM_001346144:exon2:c.T198C:p.T66T,FLRT2:NM_001346145:exon2:c.T198C:p.T66T,FLRT2:NM_001346146:exon2:c.T198C:p.T66T,FLRT2:NM_013231:exon2:c.T198C:p.T66T
14 91123575 2 TTC7B T C exonic synonymous SNV TTC7B:NM_001010854:exon11:c.A1284G:p.P428P,TTC7B:NM_001320421:exon11:c.A978G:p.P326P
14 93178191 2 LGMN A G exonic synonymous SNV LGMN:NM_005606:exon9:c.T720C:p.D240D,LGMN:NM_001008530:exon10:c.T720C:p.D240D
14 94510964 2 OTUB2 T C exonic synonymous SNV OTUB2:NM_023112:exon5:c.T336C:p.D112D RS2273226 LDL cholesterol:Infant head circumference:Mitral annular calcium
14 94524216 2 DDX24 T C exonic synonymous SNV DDX24:NM_020414:exon6:c.A1941G:p.A647A
14 96771959 2 ATG2B A G exonic nonsynonymous SNV ATG2B:NM_018036:exon31:c.T4700C:p.I1567T RS2289622 Eye color:Aortic valve calcium
14 100331876 2 EML1 T C exonic synonymous SNV EML1:NM_001008707:exon3:c.T276C:p.P92P,EML1:NM_004434:exon3:c.T276C:p.P92P RS11160553 Amyotrophic lateral sclerosis (ALS):Fasting insulin:Cystatin C in serum:HDL cholesterol:Triglycerides:High myopia:Late onset Alzheimer's disease:PROP taste detection threshold:Adiponectin levels:Obesity with early age of onset (age >2)
14 100847523 2 WDR25 T C exonic nonsynonymous SNV WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R
14 102802129 1 ZNF839 G A exonic nonsynonymous SNV ZNF839:NM_001267827:exon5:c.G1265A:p.S422N,ZNF839:NM_001267828:exon5:c.G1265A:p.S422N,ZNF839:NM_018335:exon5:c.G1613A:p.S538N
14 102802145 1 ZNF839 C T exonic synonymous SNV ZNF839:NM_001267827:exon5:c.C1281T:p.S427S,ZNF839:NM_001267828:exon5:c.C1281T:p.S427S,ZNF839:NM_018335:exon5:c.C1629T:p.S543S
14 102894593 2 TECPR2 G A exonic nonsynonymous SNV TECPR2:NM_001172631:exon7:c.G958A:p.V320I,TECPR2:NM_014844:exon7:c.G958A:p.V320I RS1309353 Body mass index (BMI):Height:Age at death with kuru exposure
14 103934488 2 MARK3 T C exonic nonsynonymous SNV MARK3:NM_001128921:exon11:c.T992C:p.F331S,MARK3:NM_001128918:exon12:c.T1229C:p.F410S,MARK3:NM_001128919:exon12:c.T1229C:p.F410S,MARK3:NM_001128920:exon12:c.T1181C:p.F394S,MARK3:NM_002376:exon12:c.T1229C:p.F410S
14 103996396 2 TRMT61A G A exonic synonymous SNV TRMT61A:NM_152307:exon2:c.G81A:p.A27A
14 105167807 2 INF2 C T exonic synonymous SNV INF2:NM_001031714:exon2:c.C105T:p.P35P,INF2:NM_022489:exon2:c.C105T:p.P35P,INF2:NM_032714:exon2:c.C105T:p.P35P
14 105179194 2 INF2 T C exonic synonymous SNV INF2:NM_001031714:exon18:c.T2640C:p.D880D,INF2:NM_022489:exon18:c.T2640C:p.D880D RS10133301 HDL cholesterol change with statins
14 105180565 2 INF2 T C exonic synonymous SNV INF2:NM_001031714:exon21:c.T3066C:p.D1022D,INF2:NM_022489:exon21:c.T3066C:p.D1022D
14 105916420 2 MTA1 C T exonic synonymous SNV MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N RS4983409 Urinary albumin-to-creatinine ratio
15 21154466 2
15 22840279 1 TUBGCP5 G T exonic synonymous SNV TUBGCP5:NM_001102610:exon4:c.G345T:p.L115L,TUBGCP5:NM_052903:exon4:c.G345T:p.L115L
15 22960868 1 CYFIP1 G C exonic synonymous SNV CYFIP1:NM_001033028:exon3:c.G768C:p.L256L,CYFIP1:NM_001324125:exon15:c.G1695C:p.L565L,CYFIP1:NM_001324124:exon17:c.G1971C:p.L657L,CYFIP1:NM_001324126:exon17:c.G1959C:p.L653L,CYFIP1:NM_001324119:exon18:c.G2163C:p.L721L,CYFIP1:NM_001324120:exon18:c.G2061C:p.L687L,CYFIP1:NM_001324123:exon18:c.G2061C:p.L687L,CYFIP1:NM_014608:exon18:c.G2061C:p.L687L,CYFIP1:NM_001287810:exon19:c.G2061C:p.L687L,CYFIP1:NM_001324122:exon19:c.G381C:p.L127L RS2289818 2 hour glucose:Total cholesterol
15 23052632 2 NIPA1 T C exonic synonymous SNV NIPA1:NM_001142275:exon4:c.A216G:p.T72T,NIPA1:NM_144599:exon4:c.A441G:p.T147T RS11263683 Waist hip ratio:Gene expression of NIPA1 [transcript NM_144599, probe A_23_P359131] in liver
15 25961964 2 ATP10A A G exonic synonymous SNV ATP10A:NM_024490:exon9:c.T1689C:p.P563P
15 28412872 2 HERC2 G A exonic synonymous SNV HERC2:NM_004667:exon68:c.C10515T:p.A3505A
15 28421681 1 HERC2 A G exonic synonymous SNV HERC2:NM_004667:exon63:c.T9579C:p.C3193C
15 28421707 1 HERC2 G A exonic synonymous SNV HERC2:NM_004667:exon63:c.C9553T:p.L3185L
15 28460900 1 HERC2 G A exonic nonsynonymous SNV HERC2:NM_004667:exon39:c.C6077T:p.T2026M
15 28502243 1 HERC2 A G exonic synonymous SNV HERC2:NM_004667:exon17:c.T2481C:p.C827C
15 28517436 1 HERC2 T C exonic synonymous SNV HERC2:NM_004667:exon9:c.A1008G:p.P336P
15 30008856 2 TJP1 C A exonic synonymous SNV TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_001301026:exon23:c.G3933T:p.A1311A,TJP1:NM_001330239:exon23:c.G4161T:p.A1387A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A,TJP1:NM_001301025:exon24:c.G4362T:p.A1454A
15 34528948 2 SLC12A6 G A exonic synonymous SNV SLC12A6:NM_001042497:exon21:c.C2958T:p.L986L,SLC12A6:NM_005135:exon22:c.C2850T:p.L950L,SLC12A6:NM_133647:exon22:c.C3003T:p.L1001L,SLC12A6:NM_001042494:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042495:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042496:exon23:c.C2976T:p.L992L RS4577050 Gene expression of C15orf29 [probe 232094_at] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Triglycerides change with statins:Urinary albumin-to-creatinine ratio:Microalbuminuria
15 34673722 1 GOLGA8A C T exonic nonsynonymous SNV GOLGA8A:NM_181077:exon16:c.G1702A:p.V568I
15 35149008 2 AQR C T exonic synonymous SNV AQR:NM_014691:exon35:c.G4443A:p.P1481P
15 38614525 2 SPRED1 G A exonic synonymous SNV SPRED1:NM_152594:exon3:c.G291A:p.K97K RS7182445 Fasting insulin:HOMA-IR:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 38643574 2 SPRED1 T C exonic synonymous SNV SPRED1:NM_152594:exon7:c.T1044C:p.V348V RS3751526 Fasting insulin:HOMA-IR:HDL cholesterol:Paternal transmission distortion:Hypertension (early onset hypertension):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 40226495 2 EIF2AK4 T C exonic synonymous SNV EIF2AK4:NM_001013703:exon1:c.T99C:p.I33I RS566792 Ischemic stroke:2 hour glucose:Fasting blood glucose:HDL cholesterol:Total cholesterol:Serum creatinine
15 40328575 2 SRP14 G C exonic nonsynonymous SNV SRP14:NM_003134:exon5:c.C370G:p.P124A,SRP14:NM_001309434:exon6:c.C226G:p.P76A RS7535 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
15 40330564 2 SRP14 C T exonic synonymous SNV SRP14:NM_003134:exon3:c.G129A:p.K43K
15 40751555 2 BAHD1 C A exonic nonsynonymous SNV BAHD1:NM_001301132:exon2:c.C892A:p.Q298K,BAHD1:NM_014952:exon2:c.C892A:p.Q298K RS3803357 Gene expression of C15orf57 [probe 1560814_a_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe 225397_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Longstanding arthritis:Total cholesterol change with statins:Triglycerides:HDL cholesterol:Gene expression of BAHD1 [transcript NM_014952, probe A_23_P117928] in liver:Gene expression of RPUSD2 [transcript NM_152260, probe A_23_P309850] in liver:Gene expression of IVD in blood:Gene expression of C15orf57 in blood:Gene expression of [probe 1340431 centered at chr15:38611495] in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in non-Alzheimer's disease samples:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases:Gene expression of C15orf57 in normal prepouch ileum:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease cases:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in non-Alzheimer's disease samples:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases
15 40914772 1 KNL1 C T exonic synonymous SNV KNL1:NM_144508:exon10:c.C2310T:p.V770V,KNL1:NM_170589:exon11:c.C2388T:p.V796V RS11855334 Gene expression of MGC20481 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of C15orf57 [probe 225397_at] in lymphoblastoid cell lines:Gene expression of RAD51 [probe 205023_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe 1560814_a_at] in lymphoblastoid cell lines:Serum creatinine:Chronic kidney disease:Gene expression of CCDC32 in Cerebellum:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C15orf57 in normal prepouch ileum:College completion:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease cases and controls
15 40915045 1 KNL1 T G exonic synonymous SNV KNL1:NM_144508:exon10:c.T2583G:p.T861T,KNL1:NM_170589:exon11:c.T2661G:p.T887T RS8041534 Gene expression of C15orf57 [probe 225397_at] in lymphoblastoid cell lines:Gene expression of RAD51 [probe 205023_at] in lymphoblastoid cell lines:Gene expression of C15orf57 [probe 1560814_a_at] in lymphoblastoid cell lines:Serum creatinine:Chronic kidney disease:Gene expression of CCDC32 in Cerebellum:Gene expression of C15orf57 in normal prepouch ileum:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases and controls
15 40915190 1 KNL1 A G exonic nonsynonymous SNV KNL1:NM_144508:exon10:c.A2728G:p.R910G,KNL1:NM_170589:exon11:c.A2806G:p.R936G RS8040502 College completion:Gene expression of C15orf57 in normal prepouch ileum
15 40915894 1 KNL1 T C exonic synonymous SNV KNL1:NM_144508:exon10:c.T3432C:p.N1144N,KNL1:NM_170589:exon11:c.T3510C:p.N1170N RS11070285 Gene expression of MGC20481 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Chronic kidney disease:Gene expression of CCDC32 in Cerebellum:Gene expression of CCDC32 in peripheral blood monocytes:Gene expression of MRPL42P5 in peripheral blood monocytes:Gene expression of ZFYVE19 in peripheral blood monocytes:Gene expression of C15orf57 (ENSG00000128891) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of RPUSD2 (ENSG00000166133) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of C15orf57 (probeID ILMN_2413318) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL42P5 (probeID ILMN_2042343) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of C15orf57 (probeID ILMN_2413318) in cerebellum in Alzheimer's disease cases and controls:College completion
15 41105926 2 ZFYVE19 T G exonic nonsynonymous SNV ZFYVE19:NM_001258420:exon8:c.T922G:p.S308A,ZFYVE19:NM_001077268:exon9:c.T1126G:p.S376A,ZFYVE19:NM_001258421:exon9:c.T601G:p.S201A,ZFYVE19:NM_032850:exon10:c.T1096G:p.S366A RS690347 Gene expression of RAD51 [probe 3590086] in brain cortex:Differential exon level expression of ZFYVE19 [probe 3590153] in peripheral blood mononuclear cells:Gene expression of CHAC1 [transcript NM_024111, probe A_23_P14863] in liver:Gene expression of ZFYVE19 in blood:Gene expression of C15orf57 in normal prepouch ileum
15 41148199 2 SPINT1 C T exonic synonymous SNV SPINT1:NM_001032367:exon8:c.C1227T:p.Y409Y,SPINT1:NM_003710:exon9:c.C1227T:p.Y409Y,SPINT1:NM_181642:exon9:c.C1275T:p.Y425Y RS659232 Abnormal Involuntary Movement Scale:Gene expression of SPINT1 in peripheral blood monocytes:LDL cholesterol:Microalbuminuria:Gene expression of C15orf57 in normal prepouch ileum
15 41149161 2 SPINT1 G C exonic synonymous SNV SPINT1:NM_001032367:exon10:c.G1530C:p.T510T,SPINT1:NM_003710:exon11:c.G1530C:p.T510T,SPINT1:NM_181642:exon11:c.G1578C:p.T526T RS690458 LDL cholesterol:Microalbuminuria
15 41815516 2 RPAP1 G C exonic nonsynonymous SNV RPAP1:NM_015540:exon18:c.C2473G:p.Q825E
15 41991315 2 MGA A T exonic nonsynonymous SNV MGA:NM_001080541:exon5:c.A2146T:p.T716S,MGA:NM_001164273:exon5:c.A2146T:p.T716S RS2178004 Gene expression of MGA [probe 230848_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Diastolic blood pressure (DBP):Infant head circumference
15 42105918 1 MAPKBP1 C G exonic nonsynonymous SNV MAPKBP1:NM_001265611:exon9:c.C919G:p.L307V,MAPKBP1:NM_014994:exon9:c.C919G:p.L307V,MAPKBP1:NM_001128608:exon10:c.C937G:p.L313V RS1201689 Triglycerides:HDL cholesterol:Years of education
15 42565588 1 TMEM87A C A exonic synonymous SNV TMEM87A:NM_001110503:exon1:c.G9T:p.A3A,TMEM87A:NM_015497:exon1:c.G9T:p.A3A RS2277533 Premature ovarian failure:Simpson-Angus Scale:Tardive dyskinesia:AraC toxicity as measured by AraC IC50 in lymphoblastoid cell lines:HDL cholesterol:Height:Gene expression of TMEM87A in blood:Obesity with early age of onset (age >2)
15 42570718 2 GANC A G exonic nonsynonymous SNV GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R,GANC:NM_001301409:exon4:c.A131G:p.Q44R RS8024732 Stabilized warfarin dose:Irritible bowel syndrome:HOMA-B:Bipolar disorder:Transmission distortion:Paternal transmission distortion
15 42579948 2 GANC T C exonic synonymous SNV GANC:NM_198141:exon4:c.T261C:p.N87N,GANC:NM_001301409:exon5:c.T261C:p.N87N RS8037627 Urinary albumin-to-creatinine ratio
15 43828387 1 PPIP5K1 C T exonic nonsynonymous SNV PPIP5K1:NM_001190214:exon29:c.G3364A:p.A1122T
15 43873489 1 PPIP5K1 C T exonic nonsynonymous SNV PPIP5K1:NM_001130859:exon8:c.G875A:p.R292Q,PPIP5K1:NM_014659:exon8:c.G875A:p.R292Q,PPIP5K1:NM_001130858:exon9:c.G875A:p.R292Q,PPIP5K1:NM_001190214:exon9:c.G875A:p.R292Q
15 44038899 2 PDIA3 C T exonic synonymous SNV PDIA3:NM_005313:exon1:c.C162T:p.A54A
15 45364534 2 SORD A C exonic nonsynonymous SNV SORD:NM_003104:exon8:c.A806C:p.N269T
15 45968435 1 SQOR T C exonic nonsynonymous SNV SQOR:NM_021199:exon6:c.T791C:p.I264T,SQOR:NM_001271213:exon7:c.T791C:p.I264T RS1044032 Neuroticism:Serum creatinine:Autism with low IQ:Autism:Age at death with kuru exposure:Transmission distortion:Primary rhegmatogenous retinal detachment:Birth weight
15 48443699 2 MYEF2 T C exonic nonsynonymous SNV MYEF2:NM_001301210:exon13:c.A1277G:p.Q426R,MYEF2:NM_016132:exon13:c.A1277G:p.Q426R
15 48460314 2
15 48460927 2 MYEF2 C T exonic nonsynonymous SNV MYEF2:NM_001301210:exon2:c.G271A:p.A91T,MYEF2:NM_016132:exon2:c.G271A:p.A91T
15 48807637 2 FBN1 C T exonic nonsynonymous SNV FBN1:NM_000138:exon12:c.G1415A:p.C472Y
15 49285001 1 SECISBP2L G C exonic nonsynonymous SNV SECISBP2L:NM_014701:exon17:c.C2611G:p.P871A,SECISBP2L:NM_001193489:exon18:c.C2746G:p.P916A
15 50773755 2 USP8 G A exonic synonymous SNV USP8:NM_001283049:exon9:c.G1065A:p.Q355Q,USP8:NM_001128610:exon11:c.G1296A:p.Q432Q,USP8:NM_005154:exon11:c.G1296A:p.Q432Q
15 50867082 2 TRPM7 G A exonic synonymous SNV TRPM7:NM_001301212:exon34:c.C4983T:p.Y1661Y,TRPM7:NM_017672:exon34:c.C4986T:p.Y1662Y RS473357 LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Aortic valve calcium:Advanced age-related macular degeneration
15 51217361 2 AP4E1 T C exonic nonsynonymous SNV AP4E1:NM_001252127:exon5:c.T262C:p.C88R,AP4E1:NM_007347:exon5:c.T487C:p.C163R RS2306331 Eye color:Alzheimer's disease:Autism:Height:Waist hip ratio:Microalbuminuria:Gene expression of AC012100.1 in blood:Gene expression of AP4E1 in blood:Gene expression of AP4E1 (ENSG00000081014) in dendritic cells:Infant head circumference:Advanced age-related macular degeneration:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of AP4E1 (ENSG00000081014) in dendritic cells treated with Mycobacterium tuberculosis
15 52531941 2 MYO5C A G exonic synonymous SNV MYO5C:NM_018728:exon21:c.T2692C:p.L898L RS11635028 Total cholesterol:Body mass index (BMI):Bipolar disorder
15 52539673 2 MYO5C C T exonic synonymous SNV MYO5C:NM_018728:exon15:c.G1863A:p.R621R
15 52556429 2 MYO5C A G exonic synonymous SNV MYO5C:NM_018728:exon9:c.T1005C:p.N335N RS4776032 Salmonella-induced pyroptosis
15 52667552 2 MYO5A G A exonic synonymous SNV MYO5A:NM_000259:exon20:c.C2526T:p.I842I,MYO5A:NM_001142495:exon20:c.C2526T:p.I842I RS2414145 Urinary albumin-to-creatinine ratio:Microalbuminuria
15 52689526 2 MYO5A T C exonic synonymous SNV MYO5A:NM_000259:exon10:c.A1191G:p.T397T,MYO5A:NM_001142495:exon10:c.A1191G:p.T397T RS2924130 Salmonella-induced pyroptosis
15 52689631 2 MYO5A T G exonic nonsynonymous SNV MYO5A:NM_000259:exon10:c.A1086C:p.E362D,MYO5A:NM_001142495:exon10:c.A1086C:p.E362D
15 56386577 2 RFX7 T G exonic nonsynonymous SNV RFX7:NM_022841:exon9:c.A3349C:p.N1117H
15 56387931 2 RFX7 C T exonic synonymous SNV RFX7:NM_022841:exon9:c.G1995A:p.Q665Q
15 56388033 1 RFX7 T C exonic synonymous SNV RFX7:NM_022841:exon9:c.A1893G:p.L631L RS12439907 Waist hip ratio:Mitral annular calcium
15 56923714 2 ZNF280D G A exonic synonymous SNV ZNF280D:NM_001002843:exon21:c.C2883T:p.D961D,ZNF280D:NM_001288588:exon22:c.C2922T:p.D974D,ZNF280D:NM_017661:exon22:c.C2922T:p.D974D
15 57731335 2 CGNL1 A C exonic nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P
15 59347929 1 RNF111 C A exonic synonymous SNV RNF111:NM_001270528:exon4:c.C1056A:p.S352S,RNF111:NM_001270529:exon4:c.C1056A:p.S352S,RNF111:NM_001270530:exon4:c.C1056A:p.S352S,RNF111:NM_001330331:exon4:c.C1056A:p.S352S,RNF111:NM_017610:exon4:c.C1056A:p.S352S RS1446239 Gene expression of CSDA in YRI lymphoblastoid cell lines:Gene expression of LOC440359 in YRI lymphoblastoid cell lines:Percent cell survival after 80 umol/L carboplatin:HDL cholesterol
15 59510189 1 MYO1E G A exonic synonymous SNV MYO1E:NM_004998:exon10:c.C1008T:p.S336S RS2230155 Type 2 diabetes, combined control dataset:Triglycerides change with statins:HDL cholesterol:Triglycerides:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 60734697 1 ICE2 A G exonic synonymous SNV ICE2:NM_001018089:exon12:c.T1932C:p.Y644Y,ICE2:NM_024611:exon12:c.T2343C:p.Y781Y
15 63351840 2 TPM1 C A exonic synonymous SNV TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A RS1071646 HDL cholesterol:Total cholesterol:Chronic kidney disease:Serum creatinine:Triglycerides:HDL cholesterol:Height:Gene expression of TPM1 in blood:Gene expression of LACTB in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Parkinson's disease:College completion
15 63414083 2 LACTB A C exonic nonsynonymous SNV LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L
15 63433766 2 LACTB G A exonic nonsynonymous SNV LACTB:NM_032857:exon6:c.G1406A:p.R469K RS2729835 HDL cholesterol:LDL cholesterol:Total cholesterol:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Gene expression of LACTB in peripheral blood monocytes:Triglycerides:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of LACTB in blood:Diastolic blood pressure (DBP):Prostate cancer:Parkinson's disease:Gene expression of LACTB (ENSG00000103642) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of LACTB in normal prepouch ileum:Obesity with early age of onset (age >2)
15 64385851 2 FAM96A T C exonic synonymous SNV FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E
15 64418397 1 SNX1 G A exonic synonymous SNV SNX1:NM_148955:exon4:c.G435A:p.P145P,SNX1:NM_001242933:exon6:c.G630A:p.P210P,SNX1:NM_003099:exon6:c.G630A:p.P210P RS1130603 Years of education
15 64737225 1 TRIP4 G A exonic synonymous SNV TRIP4:NM_001321924:exon12:c.G906A:p.E302E,TRIP4:NM_016213:exon12:c.G1596A:p.E532E
15 64915106 2 ZNF609 C T exonic synonymous SNV ZNF609:NM_015042:exon2:c.C828T:p.P276P
15 65116328 2 PIF1 A G exonic synonymous SNV PIF1:NM_001286496:exon2:c.T207C:p.F69F,PIF1:NM_001286497:exon2:c.T207C:p.F69F,PIF1:NM_001286499:exon2:c.T48C:p.F16F,PIF1:NM_025049:exon2:c.T207C:p.F69F
15 65994733 1 DENND4A C T exonic synonymous SNV DENND4A:NM_001144823:exon17:c.G2340A:p.V780V,DENND4A:NM_001320835:exon17:c.G2340A:p.V780V,DENND4A:NM_005848:exon17:c.G2340A:p.V780V RS17810074 HEXIM1 gene expression in lymphoblastoid cell lines:AraC toxicity as measured by AraC IC50 in lymphoblastoid cell lines:Gene expression of PTPLAD1 in peripheral blood monocytes:Microalbuminuria:PROP taste detection threshold
15 66612965 1 DIS3L T C exonic synonymous SNV DIS3L:NM_001323937:exon8:c.T843C:p.N281N,DIS3L:NM_001323940:exon8:c.T111C:p.N37N,DIS3L:NM_001323943:exon8:c.T111C:p.N37N,DIS3L:NM_001323948:exon8:c.T1041C:p.N347N,DIS3L:NM_001143688:exon9:c.T1221C:p.N407N,DIS3L:NM_001323936:exon9:c.T972C:p.N324N,DIS3L:NM_001323938:exon9:c.T819C:p.N273N,DIS3L:NM_001323941:exon9:c.T819C:p.N273N,DIS3L:NM_001323944:exon9:c.T1170C:p.N390N,DIS3L:NM_001323945:exon9:c.T972C:p.N324N,DIS3L:NM_001323946:exon9:c.T819C:p.N273N,DIS3L:NM_133375:exon9:c.T972C:p.N324N,DIS3L:NM_001323939:exon10:c.T819C:p.N273N
15 66644521 2 TIPIN C G exonic nonsynonymous SNV TIPIN:NM_017858:exon3:c.G158C:p.R53P
15 66821250 1 ZWILCH A G exonic nonsynonymous SNV ZWILCH:NM_001287822:exon10:c.A688G:p.S230G,ZWILCH:NM_001287823:exon10:c.A688G:p.S230G,ZWILCH:NM_001287821:exon11:c.A688G:p.S230G,ZWILCH:NM_017975:exon11:c.A1030G:p.S344G RS11071896 Gene expression of NM_133375 in liver:Total cholesterol:Rheumatoid arthritis:Triglycerides:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of MAP2K1 in blood:Resistance to kuru in aged women despite likely exposure
15 67457335 2 SMAD3 A G exonic synonymous SNV SMAD3:NM_001145103:exon2:c.A177G:p.L59L,SMAD3:NM_005902:exon2:c.A309G:p.L103L
15 68583175 2 FEM1B T C exonic synonymous SNV FEM1B:NM_015322:exon2:c.T1479C:p.N493N
15 69728949 1 KIF23 A G exonic synonymous SNV KIF23:NM_001281301:exon13:c.A1113G:p.P371P,KIF23:NM_004856:exon14:c.A1443G:p.P481P,KIF23:NM_138555:exon14:c.A1443G:p.P481P RS3825858 Irritible bowel syndrome:Schizophrenia:Resistance to kuru in aged women despite likely exposure
15 69732736 1 KIF23 C T exonic synonymous SNV KIF23:NM_001281301:exon16:c.C1647T:p.T549T,KIF23:NM_004856:exon17:c.C1977T:p.T659T,KIF23:NM_138555:exon17:c.C1977T:p.T659T RS937724 Schizophrenia
15 70991925 2 UACA G C exonic synonymous SNV UACA:NM_001008224:exon2:c.C114G:p.T38T,UACA:NM_018003:exon2:c.C153G:p.T51T RS4776525 Adiponectin levels
15 71184278 1 THAP10 G T exonic synonymous SNV THAP10:NM_020147:exon1:c.C334A:p.R112R
15 71184495 1 THAP10 A G exonic synonymous SNV THAP10:NM_020147:exon1:c.T117C:p.G39G RS2955035 Total cholesterol:LDL cholesterol:LDL cholesterol change with statins:Advanced age-related macular degeneration:Mitral annular calcium
15 72191266 2 MYO9A C T exonic nonsynonymous SNV MYO9A:NM_006901:exon25:c.G3578A:p.G1193E RS2415129 Triglycerides:HOMA-B:Fasting insulin:Disease-free survival in gastric cancer patients
15 72637795 2 HEXA T C exonic synonymous SNV HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E
15 72638892 2 HEXA T C exonic nonsynonymous SNV HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V
15 73023937 2 BBS4 T C exonic synonymous SNV BBS4:NM_001252678:exon11:c.T390C:p.F130F,BBS4:NM_001320665:exon11:c.T837C:p.F279F,BBS4:NM_033028:exon12:c.T906C:p.F302F
15 73067234 2 ADPGK T C exonic synonymous SNV ADPGK:NM_031284:exon2:c.A438G:p.A146A RS11634630 Illegal drug dependence
15 73541513 1 NEO1 A G exonic synonymous SNV NEO1:NM_001172623:exon10:c.A1719G:p.K573K,NEO1:NM_001172624:exon10:c.A1719G:p.K573K,NEO1:NM_002499:exon10:c.A1719G:p.K573K RS3736510 Total cholesterol change with statins:LDL cholesterol change with statins:Transmission distortion:Infant head circumference
15 74328206 1 PML G C exonic nonsynonymous SNV PML:NM_033250:exon7:c.G2260C:p.A754P,PML:NM_033239:exon8:c.G2404C:p.A802P RS743582 Triglycerides
15 75131661 1 ULK3 A G exonic synonymous SNV ULK3:NM_001099436:exon8:c.T906C:p.A302A,ULK3:NM_001284364:exon8:c.T906C:p.A302A,ULK3:NM_001284365:exon8:c.T555C:p.A185A RS4886615 Gene expression of ULK3 in liver:Carboplatin-induced neutropenia/leukopenia in cancer patients
15 75305040 1 SCAMP5 A G exonic synonymous SNV SCAMP5:NM_138967:exon3:c.A30G:p.P10P,SCAMP5:NM_001178111:exon4:c.A30G:p.P10P,SCAMP5:NM_001178112:exon4:c.A30G:p.P10P RS7174129 Rheumatoid arthritis:Gene expression of SCAMP5 [probe ILMN_3255] in osteoblasts:Total cholesterol:LDL cholesterol:Neuroblastoma (brain cancer):Sporadic Creutzfeldt-Jakob disease:Gene expression of SCAMP5 in normal prepouch ileum
15 75498548 2 C15orf39 A G exonic synonymous SNV C15orf39:NM_015492:exon2:c.A159G:p.A53A
15 75498744 1 C15orf39 G C exonic nonsynonymous SNV C15orf39:NM_015492:exon2:c.G355C:p.A119P RS1873379 LDL cholesterol:LDL cholesterol:Total cholesterol:Waist hip ratio:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
15 75499602 2 C15orf39 C A exonic synonymous SNV C15orf39:NM_015492:exon2:c.C1213A:p.R405R
15 75499619 2 C15orf39 T C exonic synonymous SNV C15orf39:NM_015492:exon2:c.T1230C:p.P410P
15 75499861 2 C15orf39 G A exonic nonsynonymous SNV C15orf39:NM_015492:exon2:c.G1472A:p.G491D
15 75503147 2 C15orf39 G A exonic nonsynonymous SNV C15orf39:NM_015492:exon3:c.G2834A:p.G945D
15 77298857 2
15 77344793 1 TSPAN3 T A exonic synonymous SNV TSPAN3:NM_001168412:exon5:c.A411T:p.V137V,TSPAN3:NM_198902:exon5:c.A528T:p.V176V,TSPAN3:NM_005724:exon6:c.A603T:p.V201V RS11737 Gene expression of PSTPIP1 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Salmonella-induced pyroptosis:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
15 77407114 1 PEAK1 C G exonic nonsynonymous SNV PEAK1:NM_024776:exon8:c.G4625C:p.S1542T RS1867780 Rheumatoid arthritis:Height:Waist hip ratio
15 78758677 2 IREB2 G C exonic nonsynonymous SNV IREB2:NM_001320942:exon5:c.G304C:p.V102L,IREB2:NM_001320943:exon5:c.G475C:p.V159L,IREB2:NM_004136:exon5:c.G475C:p.V159L
15 78780104 2 IREB2 T C exonic nonsynonymous SNV IREB2:NM_001320941:exon13:c.T989C:p.I330T,IREB2:NM_001320942:exon14:c.T1568C:p.I523T,IREB2:NM_004136:exon14:c.T1739C:p.I580T RS2230940 Salmonella-induced pyroptosis
15 78789488 1 IREB2 C T exonic synonymous SNV IREB2:NM_001320941:exon20:c.C1866T:p.A622A,IREB2:NM_001320942:exon21:c.C2445T:p.A815A,IREB2:NM_004136:exon21:c.C2616T:p.A872A RS13180 Gene expression of IREB2 [probe 1555476_at] in lymphoblastoid cell lines:Lung cancer:Lung cancer:Gene expression of IREB2 [probe 3603336] in peripheral blood mononuclear cells:Differential exon level expression of IREB2 [probe 3603377] in peripheral blood mononuclear cells:Chronic obstructive pulmonary disease (COPD):Lung cancer:Lung cancer:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Chronic obstructive pulmonary disease (COPD):Nicotine dependence (smoking), cigarettes per day:Nicotine dependence (smoking), cigarettes per day:Gene expression of IREB2 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Triglycerides:Waist hip ratio:Gene expression of IREB2 in blood:Gene expression of PSMA4 in blood:Chronic obstructive pulmonary disease (COPD):Gene expression of IREB2 [probeset 1555476_at] in sputum:Chronic obstructive pulmonary disease (COPD):Chronic obstructive pulmonary disease (COPD):Sporadic Creutzfeldt-Jakob disease:Lung cancer
15 79058572 2 ADAMTS7 T G exonic synonymous SNV ADAMTS7:NM_014272:exon19:c.A3681C:p.R1227R RS1809421 Triglycerides:LDL cholesterol:Total cholesterol:Cystatin C in serum:Triglycerides:Diastolic blood pressure (DBP):Coronary artery disease (CAD)
15 79089007 2 ADAMTS7 T C exonic synonymous SNV ADAMTS7:NM_014272:exon4:c.A744G:p.V248V RS3743057 Lung cancer:Nicotine dependence (smoking), cigarettes per day:Gene expression of CTSH in blood:Tetrology of fallot:Refractive error
15 79217690 2 CTSH G C exonic synonymous SNV CTSH:NM_004390:exon10:c.C792G:p.T264T,CTSH:NM_001319137:exon11:c.C390G:p.T130T
15 79614418 2 TMED3 A G exonic synonymous SNV TMED3:NM_007364:exon3:c.A516G:p.A172A
15 80191343 1 ST20 G A exonic nonsynonymous SNV ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L
15 80987812 2 ABHD17C T C exonic synonymous SNV ABHD17C:NM_021214:exon1:c.T42C:p.G14G
15 83224696 2 CPEB1 C T exonic synonymous SNV CPEB1:NM_001079535:exon3:c.G558A:p.P186P,CPEB1:NM_001288820:exon3:c.G105A:p.P35P,CPEB1:NM_001079533:exon4:c.G558A:p.P186P,CPEB1:NM_001079534:exon4:c.G558A:p.P186P,CPEB1:NM_001288819:exon5:c.G558A:p.P186P,CPEB1:NM_030594:exon5:c.G783A:p.P261P
15 83680287 1 C15orf40 A G exonic nonsynonymous SNV C15orf40:NM_001160113:exon1:c.T73C:p.C25R,C15orf40:NM_001160114:exon1:c.T73C:p.C25R,C15orf40:NM_001160115:exon1:c.T73C:p.C25R,C15orf40:NM_001160116:exon1:c.T73C:p.C25R,C15orf40:NM_144597:exon1:c.T73C:p.C25R RS4842860 Gene expression of probe 240201_at in lymphoblastoid cell lines:Triglycerides
15 84842857 1 UBE2Q2L T C exonic nonsynonymous SNV UBE2Q2L:NM_001243531:exon2:c.T182C:p.I61T
15 85149771 2 ZSCAN2 G T exonic nonsynonymous SNV ZSCAN2:NM_017894:exon3:c.G418T:p.V140F RS2271433 Differential exon level expression of FLJ43276 [probe 3636887] in brain cortex:HDL cholesterol change with statins:Gene expression of WDR73 in CD4+ lymphocytes:Gene expression of AC115102.7///SEC11B in blood:Gene expression of WDR73 in blood
15 85163998 2 ZSCAN2 G C exonic nonsynonymous SNV ZSCAN2:NM_181877:exon3:c.G572C:p.S191T RS2044502 Gene expression change of SEC11A (ENSG00000140612) in dendritic cells after treatment with Mycobacterium tuberculosis
15 85188994 2 WDR73 T C exonic synonymous SNV WDR73:NM_032856:exon7:c.A591G:p.S197S
15 89169858 2 AEN A G exonic nonsynonymous SNV AEN:NM_022767:exon2:c.A418G:p.N140D RS8027765 Hip bone mineral density (BMD):Rheumatoid arthritis:Premature ovarian failure:HOMA-B:Cystatin C in serum:Gene expression of ISG20L1 [probe ILMN_12401] in osteoblasts treated with PGE2:Gene expression of ISG20 in blood:Gene expression of DET1 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
15 89172558 2 AEN G C exonic synonymous SNV AEN:NM_022767:exon3:c.G642C:p.T214T RS3743475 Rheumatoid arthritis:Birth weight
15 89804043 1 FANCI C T exonic nonsynonymous SNV FANCI:NM_001113378:exon4:c.C257T:p.A86V,FANCI:NM_018193:exon4:c.C257T:p.A86V RS17803620 Height:Suicide attempts in bipolar disorder (substance free):Birth weight:Advanced age-related macular degeneration
15 89836228 1 FANCI G C exonic nonsynonymous SNV FANCI:NM_001113378:exon22:c.G2225C:p.C742S,FANCI:NM_018193:exon22:c.G2225C:p.C742S RS2283432 Tardive dyskinesia:Height:Advanced age-related macular degeneration:Birth weight
15 89838236 2 FANCI G A exonic synonymous SNV FANCI:NM_001113378:exon24:c.G2547A:p.K849K
15 89858602 1 FANCI T C exonic synonymous SNV FANCI:NM_018193:exon36:c.T3726C:p.G1242G,FANCI:NM_001113378:exon37:c.T3906C:p.G1302G RS1138465 Height:Gene expression of POLG in blood:Birth weight
15 90168693 1 TICRR T A exonic nonsynonymous SNV TICRR:NM_001308025:exon20:c.T5149A:p.S1717T,TICRR:NM_152259:exon20:c.T5152A:p.S1718T RS1866928 Gene expression of C15orf42 [probe 232475_at] in lymphoblastoid cell lines
15 90196008 1 KIF7 C T exonic nonsynonymous SNV KIF7:NM_198525:exon2:c.G154A:p.D52N
15 90334240 1 ANPEP A G exonic synonymous SNV ANPEP:NM_001150:exon19:c.T2613C:p.I871I RS25654 Cystatin C in serum:Gene expression of MESP1 in peripheral blood monocytes:2-Hydroxyisobutyrate:Threonine:Threonine:tau-Methylhistidine
15 90335534 1 ANPEP G A exonic synonymous SNV ANPEP:NM_001150:exon18:c.C2385T:p.T795T RS25652 HOMA-B:Total cholesterol
15 90623052 2 ZNF710 T C exonic synonymous SNV ZNF710:NM_198526:exon5:c.T1986C:p.N662N RS2970357 Response to Lithium Treatment for Bipolar disorder:Autism without verbal ability:Height:Urinary albumin-to-creatinine ratio:Parkinson's disease
15 90771750 2 SEMA4B T G exonic nonsynonymous SNV SEMA4B:NM_001324029:exon13:c.T1975G:p.S659A,SEMA4B:NM_001324030:exon14:c.T1921G:p.S641A,SEMA4B:NM_001324034:exon14:c.T2419G:p.S807A,SEMA4B:NM_198925:exon14:c.T2389G:p.S797A,SEMA4B:NM_001324031:exon15:c.T2548G:p.S850A,SEMA4B:NM_001324033:exon15:c.T1921G:p.S641A,SEMA4B:NM_020210:exon15:c.T2389G:p.S797A RS3751655 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 90784207 2 GDPGP1 A G exonic nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.A67G:p.R23G,GDPGP1:NM_001322811:exon5:c.A67G:p.R23G
15 90784250 2 GDPGP1 T C exonic nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.T110C:p.M37T,GDPGP1:NM_001322811:exon5:c.T110C:p.M37T RS7171194 Rheumatoid arthritis:Partial epilepsy:Body mass index (BMI):Gene expression of SEMA4B///CIB1 in blood:Gene expression of C15orf58 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 91337479 1 BLM G A exonic synonymous SNV BLM:NM_000057:exon16:c.G3102A:p.T1034T,BLM:NM_001287247:exon16:c.G3102A:p.T1034T,BLM:NM_001287248:exon16:c.G1977A:p.T659T,BLM:NM_001287246:exon17:c.G3102A:p.T1034T
15 91346923 1 BLM C A exonic synonymous SNV BLM:NM_000057:exon18:c.C3531A:p.A1177A,BLM:NM_001287248:exon18:c.C2406A:p.A802A,BLM:NM_001287246:exon19:c.C3531A:p.A1177A RS2227934 Salmonella-induced pyroptosis
15 91424574 2 FURIN G C exonic synonymous SNV FURIN:NM_001289823:exon16:c.G1851C:p.G617G,FURIN:NM_001289824:exon16:c.G1851C:p.G617G,FURIN:NM_002569:exon16:c.G1851C:p.G617G RS6226 Gene expression of MAN2A2 (ENSG00000196547) in dendritic cells treated with Mycobacterium tuberculosis
15 91452595 2 MAN2A2 A G exonic nonsynonymous SNV MAN2A2:NM_006122:exon9:c.A1235G:p.Q412R,MAN2A2:NM_001320977:exon10:c.A1235G:p.Q412R RS2106673 Cystatin C in serum:Gene expression of RCCD1 in CD4+ lymphocytes:Height:Gene expression of UNC45A in blood:Gene expression of MAN2A2 in blood:Gene expression of RCCD1 in blood:Gene expression of HDDC3///UNC45A in blood:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MAN2A2 in normal prepouch ileum:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Alzheimer's disease cases:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of UNC45A (probeID ILMN_2395932) in cerebellum in non-Alzheimer's disease samples:Gene expression of HDDC3 in normal prepouch ileum
15 91524841 2 PRC1 G T exonic nonsynonymous SNV PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E
15 93510603 2 CHD2 A G exonic synonymous SNV CHD2:NM_001271:exon17:c.A2049G:p.E683E RS4777755 Total cholesterol change with statins:Rheumatoid arthritis:Total cholesterol:College completion
15 93521604 2 CHD2 A G exonic synonymous SNV CHD2:NM_001271:exon21:c.A2718G:p.Q906Q RS11074121 Total cholesterol change with statins:Rheumatoid arthritis:Total cholesterol:College completion
15 99670989 2 SYNM T C exonic unknown UNKNOWN RS3743248 Cystatin C in serum:Birth weight:Mitral annular calcium
15 99671760 2 SYNM T C exonic unknown UNKNOWN RS260087 Mitral annular calcium
15 99672722 2 SYNM A G exonic unknown UNKNOWN RS2292288 Gene expression of DMN in CD4+ lymphocytes:Tetrology of fallot:Transmission distortion:Mitral annular calcium:Refractive error
15 99715352 2 TTC23 A G exonic synonymous SNV TTC23:NM_001288616:exon8:c.T768C:p.L256L,TTC23:NM_001288615:exon10:c.T768C:p.L256L RS2602016 Cystatin C in serum:Gene expression of LRRC28 in peripheral blood monocytes:Gene expression of TTC23 in peripheral blood monocytes:Birth weight:Mitral annular calcium
15 101717680 1 CHSY1 G T exonic synonymous SNV CHSY1:NM_014918:exon3:c.C2322A:p.T774T RS8024370 Body mass index (BMI):Mitral annular calcium
15 102192548 2 TM2D3 A C exonic nonsynonymous SNV TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R,TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R
15 129147079 2
16 103517 2 POLR3K A C exonic nonsynonymous SNV POLR3K:NM_016310:exon1:c.T70G:p.S24A
16 601632 2 CAPN15 T C exonic synonymous SNV CAPN15:NM_005632:exon9:c.T2313C:p.G771G RS3213574 HDL cholesterol change with statins:Refractive error
16 602313 2 CAPN15 C A exonic synonymous SNV CAPN15:NM_005632:exon11:c.C2520A:p.A840A
16 718514 2 RHOT2 C G exonic synonymous SNV RHOT2:NM_138769:exon3:c.C123G:p.T41T
16 839262 2 CHTF18 A G exonic synonymous SNV CHTF18:NM_022092:exon3:c.A339G:p.R113R
16 1260481 2 CACNA1H T C exonic synonymous SNV CACNA1H:NM_001005407:exon19:c.T3957C:p.D1319D,CACNA1H:NM_021098:exon19:c.T3957C:p.D1319D RS8063574 Prostate cancer
16 1261282 2 CACNA1H T C exonic synonymous SNV CACNA1H:NM_001005407:exon22:c.T4338C:p.I1446I,CACNA1H:NM_021098:exon22:c.T4338C:p.I1446I RS4984637 Gene expression of TPSG1 in normal prepouch ileum
16 1270349 2 CACNA1H T C exonic synonymous SNV CACNA1H:NM_001005407:exon34:c.T6399C:p.D2133D,CACNA1H:NM_021098:exon35:c.T6417C:p.D2139D
16 1503879 2 CLCN7 T A exonic synonymous SNV CLCN7:NM_001114331:exon13:c.A1098T:p.A366A,CLCN7:NM_001287:exon14:c.A1170T:p.A390A RS2235579 HOMA-B:Fasting insulin
16 1827836 2 SPSB3 T C exonic synonymous SNV SPSB3:NM_001324081:exon6:c.A633G:p.S211S,SPSB3:NM_080861:exon6:c.A633G:p.S211S RS1178432 2 hour glucose:Fasting blood glucose:Serum creatinine
16 1838640 2 NUBP2 T C exonic nonsynonymous SNV NUBP2:NM_001284502:exon6:c.T295C:p.W99R RS344359 Left ventricular systolic dysfunction (LV systolic dysfunction):2 hour glucose:Fasting blood glucose:Methylation levels at chr16:1849715-1849765 [hg18 coord, probe cg14074117] in Cerebellum
16 2059674 2 ZNF598 T C exonic nonsynonymous SNV ZNF598:NM_178167:exon2:c.A74G:p.E25G
16 2147972 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon31:c.C10064T:p.P3355L,PKD1:NM_001009944:exon31:c.C10064T:p.P3355L
16 2149876 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon29:c.C9909T:p.G3303G,PKD1:NM_001009944:exon29:c.C9909T:p.G3303G
16 2149965 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon29:c.C9820T:p.R3274C,PKD1:NM_001009944:exon29:c.C9820T:p.R3274C
16 2150473 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon27:c.C9492T:p.S3164S,PKD1:NM_001009944:exon27:c.C9492T:p.S3164S
16 2150481 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon27:c.C9484T:p.R3162C,PKD1:NM_001009944:exon27:c.C9484T:p.R3162C
16 2150500 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon27:c.C9465T:p.D3155D,PKD1:NM_001009944:exon27:c.C9465T:p.D3155D
16 2152171 1 PKD1 G C exonic nonsynonymous SNV PKD1:NM_000296:exon26:c.C9288G:p.H3096Q,PKD1:NM_001009944:exon26:c.C9288G:p.H3096Q
16 2152397 1 PKD1 G T exonic synonymous SNV PKD1:NM_000296:exon25:c.C9186A:p.V3062V,PKD1:NM_001009944:exon25:c.C9186A:p.V3062V
16 2152399 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon25:c.G9184A:p.V3062I,PKD1:NM_001009944:exon25:c.G9184A:p.V3062I
16 2152426 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon25:c.G9157A:p.A3053T,PKD1:NM_001009944:exon25:c.G9157A:p.A3053T
16 2153308 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.C8750T:p.A2917V,PKD1:NM_001009944:exon23:c.C8750T:p.A2917V
16 2153714 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.G8344A:p.V2782M,PKD1:NM_001009944:exon23:c.G8344A:p.V2782M
16 2153733 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon23:c.G8325A:p.T2775T,PKD1:NM_001009944:exon23:c.G8325A:p.T2775T
16 2153738 1 PKD1 G C exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.C8320G:p.L2774V,PKD1:NM_001009944:exon23:c.C8320G:p.L2774V
16 2153767 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon23:c.T8291C:p.M2764T,PKD1:NM_001009944:exon23:c.T8291C:p.M2764T
16 2153823 1 PKD1 A C exonic synonymous SNV PKD1:NM_000296:exon23:c.T8235G:p.S2745S,PKD1:NM_001009944:exon23:c.T8235G:p.S2745S
16 2156430 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon18:c.C7458T:p.A2486A,PKD1:NM_001009944:exon18:c.C7458T:p.A2486A
16 2156470 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon18:c.G7418A:p.G2473E,PKD1:NM_001009944:exon18:c.G7418A:p.G2473E
16 2157929 1 PKD1 C G exonic synonymous SNV PKD1:NM_000296:exon16:c.G7020C:p.L2340L,PKD1:NM_001009944:exon16:c.G7020C:p.L2340L
16 2157956 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon16:c.G6993A:p.A2331A,PKD1:NM_001009944:exon16:c.G6993A:p.A2331A
16 2157965 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon16:c.G6984A:p.E2328E,PKD1:NM_001009944:exon16:c.G6984A:p.E2328E
16 2158277 1 PKD1 G C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C6891G:p.H2297Q,PKD1:NM_001009944:exon15:c.C6891G:p.H2297Q
16 2158353 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G6815A:p.R2272Q,PKD1:NM_001009944:exon15:c.G6815A:p.R2272Q
16 2158376 1 PKD1 T G exonic synonymous SNV PKD1:NM_000296:exon15:c.A6792C:p.S2264S,PKD1:NM_001009944:exon15:c.A6792C:p.S2264S
16 2158389 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T6779C:p.I2260T,PKD1:NM_001009944:exon15:c.T6779C:p.I2260T
16 2158440 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A6728G:p.Q2243R,PKD1:NM_001009944:exon15:c.A6728G:p.Q2243R
16 2158444 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A6724G:p.T2242A,PKD1:NM_001009944:exon15:c.A6724G:p.T2242A
16 2158510 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C6658T:p.R2220W,PKD1:NM_001009944:exon15:c.C6658T:p.R2220W
16 2158524 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G6644A:p.R2215Q,PKD1:NM_001009944:exon15:c.G6644A:p.R2215Q
16 2158565 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon15:c.A6603G:p.P2201P,PKD1:NM_001009944:exon15:c.A6603G:p.P2201P
16 2158598 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T6570C:p.Y2190Y,PKD1:NM_001009944:exon15:c.T6570C:p.Y2190Y
16 2158634 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C6534T:p.C2178C,PKD1:NM_001009944:exon15:c.C6534T:p.C2178C
16 2158772 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C6396T:p.F2132F,PKD1:NM_001009944:exon15:c.C6396T:p.F2132F
16 2158868 1 PKD1 C G exonic synonymous SNV PKD1:NM_000296:exon15:c.G6300C:p.S2100S,PKD1:NM_001009944:exon15:c.G6300C:p.S2100S
16 2158901 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T6267C:p.R2089R,PKD1:NM_001009944:exon15:c.T6267C:p.R2089R
16 2158967 1 PKD1 C G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G6201C:p.Q2067H,PKD1:NM_001009944:exon15:c.G6201C:p.Q2067H
16 2158968 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A6200G:p.Q2067R,PKD1:NM_001009944:exon15:c.A6200G:p.Q2067R
16 2159045 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C6123T:p.R2041R,PKD1:NM_001009944:exon15:c.C6123T:p.R2041R
16 2159211 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C5957T:p.T1986M,PKD1:NM_001009944:exon15:c.C5957T:p.T1986M
16 2159228 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C5940T:p.C1980C,PKD1:NM_001009944:exon15:c.C5940T:p.C1980C
16 2159252 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T5916C:p.S1972S,PKD1:NM_001009944:exon15:c.T5916C:p.S1972S
16 2159316 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G5852A:p.R1951Q,PKD1:NM_001009944:exon15:c.G5852A:p.R1951Q
16 2159341 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G5827A:p.V1943I,PKD1:NM_001009944:exon15:c.G5827A:p.V1943I
16 2159456 1 PKD1 C A exonic synonymous SNV PKD1:NM_000296:exon15:c.G5712T:p.L1904L,PKD1:NM_001009944:exon15:c.G5712T:p.L1904L
16 2159520 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C5648T:p.A1883V,PKD1:NM_001009944:exon15:c.C5648T:p.A1883V
16 2159732 1 PKD1 G C exonic synonymous SNV PKD1:NM_000296:exon15:c.C5436G:p.P1812P,PKD1:NM_001009944:exon15:c.C5436G:p.P1812P
16 2159861 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T5307C:p.H1769H,PKD1:NM_001009944:exon15:c.T5307C:p.H1769H
16 2159881 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T5287C:p.S1763P,PKD1:NM_001009944:exon15:c.T5287C:p.S1763P
16 2160034 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A5134G:p.M1712V,PKD1:NM_001009944:exon15:c.A5134G:p.M1712V
16 2160044 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C5124T:p.A1708A,PKD1:NM_001009944:exon15:c.C5124T:p.A1708A
16 2160094 1 PKD1 T A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A5074T:p.T1692S,PKD1:NM_001009944:exon15:c.A5074T:p.T1692S
16 2160108 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T5060C:p.V1687A,PKD1:NM_001009944:exon15:c.T5060C:p.V1687A
16 2160222 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C4946T:p.T1649M,PKD1:NM_001009944:exon15:c.C4946T:p.T1649M
16 2160332 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon15:c.G4836A:p.T1612T,PKD1:NM_001009944:exon15:c.G4836A:p.T1612T
16 2160394 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C4774T:p.P1592S,PKD1:NM_001009944:exon15:c.C4774T:p.P1592S
16 2160458 1 PKD1 C G exonic synonymous SNV PKD1:NM_000296:exon15:c.G4710C:p.T1570T,PKD1:NM_001009944:exon15:c.G4710C:p.T1570T
16 2160472 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G4696A:p.V1566M,PKD1:NM_001009944:exon15:c.G4696A:p.V1566M
16 2160514 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G4654A:p.V1552I,PKD1:NM_001009944:exon15:c.G4654A:p.V1552I
16 2160578 1 PKD1 C G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G4590C:p.W1530C,PKD1:NM_001009944:exon15:c.G4590C:p.W1530C
16 2160649 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T4519C:p.W1507R,PKD1:NM_001009944:exon15:c.T4519C:p.W1507R
16 2160812 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T4356C:p.S1452S,PKD1:NM_001009944:exon15:c.T4356C:p.S1452S
16 2161062 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A4106G:p.H1369R,PKD1:NM_001009944:exon15:c.A4106G:p.H1369R
16 2161115 1 PKD1 C A exonic synonymous SNV PKD1:NM_000296:exon15:c.G4053T:p.R1351R,PKD1:NM_001009944:exon15:c.G4053T:p.R1351R
16 2161153 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G4015A:p.V1339M,PKD1:NM_001009944:exon15:c.G4015A:p.V1339M
16 2161178 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C3990T:p.F1330F,PKD1:NM_001009944:exon15:c.C3990T:p.F1330F
16 2161200 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.A3968G:p.H1323R,PKD1:NM_001009944:exon15:c.A3968G:p.H1323R
16 2161247 1 PKD1 C A exonic synonymous SNV PKD1:NM_000296:exon15:c.G3921T:p.T1307T,PKD1:NM_001009944:exon15:c.G3921T:p.T1307T
16 2161268 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon15:c.A3900G:p.E1300E,PKD1:NM_001009944:exon15:c.A3900G:p.E1300E
16 2161271 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon15:c.T3897C:p.V1299V,PKD1:NM_001009944:exon15:c.T3897C:p.V1299V
16 2161472 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C3696T:p.S1232S,PKD1:NM_001009944:exon15:c.C3696T:p.S1232S
16 2161526 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon15:c.A3642G:p.G1214G,PKD1:NM_001009944:exon15:c.A3642G:p.G1214G
16 2161611 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C3557T:p.T1186I,PKD1:NM_001009944:exon15:c.C3557T:p.T1186I
16 2161624 1 PKD1 C G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.G3544C:p.A1182P,PKD1:NM_001009944:exon15:c.G3544C:p.A1182P
16 2161719 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C3449T:p.P1150L,PKD1:NM_001009944:exon15:c.C3449T:p.P1150L
16 2161721 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C3447T:p.H1149H,PKD1:NM_001009944:exon15:c.C3447T:p.H1149H
16 2161782 1 PKD1 A T exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T3386A:p.V1129E,PKD1:NM_001009944:exon15:c.T3386A:p.V1129E
16 2161824 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.C3344T:p.T1115M,PKD1:NM_001009944:exon15:c.C3344T:p.T1115M
16 2161827 1 PKD1 A C exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T3341G:p.L1114R,PKD1:NM_001009944:exon15:c.T3341G:p.L1114R
16 2167044 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon7:c.G1396A:p.V466M,PKD1:NM_001009944:exon7:c.G1396A:p.V466M
16 2167972 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G1021A:p.A341T,PKD1:NM_001009944:exon5:c.G1021A:p.A341T
16 2168072 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon5:c.C921T:p.F307F,PKD1:NM_001009944:exon5:c.C921T:p.F307F
16 2168135 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon5:c.T858C:p.S286S,PKD1:NM_001009944:exon5:c.T858C:p.S286S
16 2168144 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon5:c.T849C:p.P283P,PKD1:NM_001009944:exon5:c.T849C:p.P283P
16 2168167 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.A826G:p.T276A,PKD1:NM_001009944:exon5:c.A826G:p.T276A
16 2168212 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G781A:p.G261S,PKD1:NM_001009944:exon5:c.G781A:p.G261S
16 2168234 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon5:c.A759G:p.P253P,PKD1:NM_001009944:exon5:c.A759G:p.P253P
16 2168279 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon5:c.C714T:p.S238S,PKD1:NM_001009944:exon5:c.C714T:p.S238S
16 2168730 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon4:c.G476A:p.G159D,PKD1:NM_001009944:exon4:c.G476A:p.G159D
16 2185569 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon1:c.C122T:p.P41L,PKD1:NM_001009944:exon1:c.C122T:p.P41L
16 2185595 2 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon1:c.C96T:p.P32P,PKD1:NM_001009944:exon1:c.C96T:p.P32P
16 2331430 2 ABCA3 A G exonic synonymous SNV ABCA3:NM_001089:exon27:c.T4116C:p.S1372S
16 2815237 2 SRRM2 A C exonic synonymous SNV SRRM2:NM_016333:exon11:c.A4708C:p.R1570R RS3094773 Stabilized warfarin dose
16 3452193 2 ZNF174 T G exonic synonymous SNV ZNF174:NM_001032292:exon1:c.T189G:p.A63A,ZNF174:NM_001347869:exon1:c.T189G:p.A63A,ZNF174:NM_003450:exon1:c.T189G:p.A63A,ZNF174:NM_001347868:exon2:c.T189G:p.A63A,ZNF174:NM_001347870:exon2:c.T189G:p.A63A RS37811 Tardive dyskinesia:PROP taste detection threshold:Parkinson's disease
16 3533577 2 NAA60 C G exonic synonymous SNV NAA60:NM_001317095:exon4:c.C357G:p.G119G,NAA60:NM_001083600:exon5:c.C552G:p.G184G,NAA60:NM_001317093:exon5:c.C573G:p.G191G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083601:exon6:c.C552G:p.G184G RS1137454 Gene expression of NAT15 (ENSG00000122390) in dendritic cells
16 3534892 2 NAA60 G A exonic nonsynonymous SNV NAA60:NM_001317096:exon5:c.G539A:p.R180Q RS13740 Irritible bowel syndrome:Chronic kidney disease:Gene expression of CLUAP1 in blood:Gene expression of TRAP1 in blood:Salmonella-induced pyroptosis
16 3707747 2 DNASE1 G A exonic nonsynonymous SNV DNASE1:NM_005223:exon8:c.G731A:p.R244Q RS1053874 Triglycerides:Waist hip ratio:Body mass index (BMI):Gene expression of CLUAP1 in blood:Birth weight:Infant head circumference
16 4016676 2 ADCY9 A G exonic synonymous SNV ADCY9:NM_001116:exon11:c.T3162C:p.H1054H RS2230742 Major depressive disorder:Recurrent early onset major depressive disorder:Childhood acute lymphoblastic leukemia:Microalbuminuria:Bronchodilator response in asthma
16 4027605 2 ADCY9 C T exonic synonymous SNV ADCY9:NM_001116:exon9:c.G2706A:p.A902A RS2240735 LDL cholesterol:Height:Obesity (body mass index (BMI)):Body mass index (BMI):Red blood cell traits (combined):Bronchodilator response in asthma:Aortic valve calcium
16 4165432 2 ADCY9 T C exonic synonymous SNV ADCY9:NM_001116:exon2:c.A12G:p.P4P
16 4815608 2 ZNF500 A G exonic synonymous SNV ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L
16 4861709 2 GLYR1 G C exonic nonsynonymous SNV GLYR1:NM_001324096:exon13:c.C1182G:p.H394Q,GLYR1:NM_001324097:exon13:c.C1200G:p.H400Q,GLYR1:NM_001324098:exon13:c.C1392G:p.H464Q,GLYR1:NM_001308096:exon14:c.C1359G:p.H453Q,GLYR1:NM_032569:exon14:c.C1377G:p.H459Q
16 4938160 2 PPL T G exonic nonsynonymous SNV PPL:NM_002705:exon20:c.A2457C:p.R819S RS2734742 Salmonella-induced pyroptosis
16 4940809 2 PPL A G exonic synonymous SNV PPL:NM_002705:exon17:c.T2082C:p.C694C
16 4944518 2 PPL C G exonic synonymous SNV PPL:NM_002705:exon12:c.G1344C:p.V448V
16 8736028 2 METTL22 T C exonic synonymous SNV METTL22:NM_024109:exon8:c.T871C:p.L291L
16 8738427 2 METTL22 T C exonic synonymous SNV METTL22:NM_024109:exon10:c.T1024C:p.L342L
16 8738499 2 METTL22 G A exonic nonsynonymous SNV METTL22:NM_024109:exon10:c.G1096A:p.A366T
16 8952248 2 CARHSP1 A G exonic synonymous SNV CARHSP1:NM_001042476:exon3:c.T240C:p.T80T,CARHSP1:NM_001278263:exon3:c.T240C:p.T80T,CARHSP1:NM_001278264:exon3:c.T240C:p.T80T,CARHSP1:NM_001278265:exon3:c.T240C:p.T80T,CARHSP1:NM_001278266:exon3:c.T240C:p.T80T,CARHSP1:NM_014316:exon3:c.T240C:p.T80T,CARHSP1:NM_001278260:exon4:c.T240C:p.T80T,CARHSP1:NM_001278261:exon4:c.T240C:p.T80T,CARHSP1:NM_001278262:exon4:c.T240C:p.T80T
16 11836398 2 TXNDC11 C G exonic synonymous SNV TXNDC11:NM_001303447:exon1:c.G189C:p.P63P,TXNDC11:NM_015914:exon1:c.G189C:p.P63P
16 11836508 2 TXNDC11 G A exonic nonsynonymous SNV TXNDC11:NM_001303447:exon1:c.C79T:p.P27S,TXNDC11:NM_015914:exon1:c.C79T:p.P27S
16 11852354 2 ZC3H7A A C exonic synonymous SNV ZC3H7A:NM_014153:exon20:c.T2361G:p.V787V
16 11940390 2 RSL1D1 T C exonic synonymous SNV RSL1D1:NM_015659:exon5:c.A603G:p.T201T
16 12009279 2 GSPT1 A G exonic nonsynonymous SNV GSPT1:NM_001130006:exon1:c.T299C:p.V100A,GSPT1:NM_002094:exon1:c.T299C:p.V100A
16 15042814 1 NPIPA1 T C exonic synonymous SNV NPIPA1:NM_006985:exon5:c.T465C:p.R155R
16 16271357 2 ABCC6 T C exonic nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V
16 18823379 2 SMG1 T C exonic synonymous SNV SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q
16 19067933 2 TMC7 G A exonic synonymous SNV TMC7:NM_001324268:exon13:c.G915A:p.T305T,TMC7:NM_001160364:exon14:c.G1611A:p.T537T,TMC7:NM_001300732:exon14:c.G1941A:p.T647T,TMC7:NM_001324263:exon14:c.G915A:p.T305T,TMC7:NM_024847:exon14:c.G1941A:p.T647T
16 19085298 2 COQ7 C T exonic nonsynonymous SNV COQ7:NM_001190983:exon3:c.C194T:p.T65M,COQ7:NM_016138:exon3:c.C308T:p.T103M RS11074359 Irritible bowel syndrome:Differential exon level expression of COQ7 [probe 3650810] in peripheral blood mononuclear cells:Endometriosis
16 19547747 2 CCP110 C G exonic nonsynonymous SNV CCP110:NM_001199022:exon4:c.C756G:p.I252M,CCP110:NM_001323572:exon4:c.C756G:p.I252M,CCP110:NM_001323577:exon4:c.C756G:p.I252M,CCP110:NM_001323569:exon5:c.C756G:p.I252M,CCP110:NM_001323576:exon5:c.C756G:p.I252M,CCP110:NM_014711:exon5:c.C756G:p.I252M,CCP110:NM_001323570:exon6:c.C756G:p.I252M,CCP110:NM_001323571:exon6:c.C756G:p.I252M RS226891 LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
16 20855309 2 REXO5 A G exonic synonymous SNV REXO5:NM_001199053:exon16:c.A1680G:p.E560E,REXO5:NM_030941:exon16:c.A1680G:p.E560E RS9929443 Rheumatoid arthritis
16 22262514 2 EEF2K C A exonic synonymous SNV EEF2K:NM_013302:exon6:c.C489A:p.G163G RS2303186 Major depressive disorder:HDL cholesterol:Triglycerides:HDL cholesterol:Gene expression of POLR3E [transcript NM_018119, probe A_23_P152181] in liver:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
16 22269867 2 EEF2K A G exonic nonsynonymous SNV EEF2K:NM_013302:exon10:c.A1082G:p.Q361R
16 28617485 2 SULT1A1 C T exonic nonsynonymous SNV SULT1A1:NM_177536:exon5:c.G433A:p.V145M,SULT1A1:NM_177534:exon6:c.G667A:p.V223M,SULT1A1:NM_001055:exon7:c.G667A:p.V223M,SULT1A1:NM_177529:exon7:c.G667A:p.V223M,SULT1A1:NM_177530:exon7:c.G667A:p.V223M
16 28842311 2 ATXN2L A G exonic synonymous SNV ATXN2L:NM_001308230:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q
16 29708350 2 QPRT A G exonic nonsynonymous SNV QPRT:NM_001318249:exon2:c.A148G:p.T50A,QPRT:NM_001318250:exon3:c.A139G:p.T47A,QPRT:NM_014298:exon3:c.A583G:p.T195A
16 29811319 2 KIF22 C T exonic synonymous SNV KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I
16 29814234 2 KIF22 G A exonic synonymous SNV KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V
16 30236878 2
16 30408765 2 ZNF48 C T exonic nonsynonymous SNV ZNF48:NM_152652:exon2:c.C194T:p.A65V,ZNF48:NM_001214906:exon3:c.C194T:p.A65V,ZNF48:NM_001214909:exon3:c.C194T:p.A65V RS12921440 Gene expression of BOLA2 [probe 210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC440354 [probe 210396_s_at] in lymphoblastoid cell lines:Gene expression of LOC595101 [probe 210396_s_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:LDL cholesterol change with statins:LDL cholesterol:Total cholesterol:Gene expression of ZNF688///CD2BP2 in blood:Gene expression of ZNF688///GDPD3///MAPK3 in blood:Gene expression of LOC440354 (probeID ILMN_1782377) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SEPT1 (probeID ILMN_2415162) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LOC595101 (probeID ILMN_2200562) in temporal cortex in Alzheimer's disease cases:Parkinson's disease:Gene expression of LOC440354 (probeID ILMN_1782377) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LOC440354 (probeID ILMN_1782377) in temporal cortex in non-Alzheimer's disease samples:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of LOC595101 (probeID ILMN_2200562) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LOC595101 (probeID ILMN_2200562) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SEPT1 (probeID ILMN_2415162) in temporal cortex in Alzheimer's disease cases:Gene expression of LOC595101 (probeID ILMN_2200562) in temporal cortex in non-Alzheimer's disease samples:Gene expression of LOC440354 (probeID ILMN_1782377) in cerebellum in non-Alzheimer's disease samples:Gene expression of SEPT1 (probeID ILMN_2415162) in temporal cortex in non-Alzheimer's disease samples:Refractive error:Advanced age-related macular degeneration:Gene expression of SEPT1 (probeID ILMN_2415162) in cerebellum in Alzheimer's disease cases and controls
16 30724070 2 SRCAP G T exonic synonymous SNV SRCAP:NM_006662:exon14:c.G2064T:p.R688R
16 30734963 2 SRCAP C A exonic synonymous SNV SRCAP:NM_006662:exon25:c.C4218A:p.S1406S
16 30779716 2 RNF40 A G exonic nonsynonymous SNV RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_001286572:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R
16 30780828 2 RNF40 A G exonic synonymous SNV RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_001286572:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L
16 30964940 2 ORAI3 A G exonic synonymous SNV ORAI3:NM_152288:exon2:c.A663G:p.Q221Q
16 31075708 2 ZNF668 C G exonic nonsynonymous SNV ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L
16 31141826 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P
16 31141880 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L
16 31195279 2 FUS C T exonic synonymous SNV FUS:NM_001170634:exon4:c.C288T:p.Y96Y,FUS:NM_001170937:exon4:c.C291T:p.Y97Y,FUS:NM_004960:exon4:c.C291T:p.Y97Y RS1052352 LDL cholesterol:Triglycerides:Triglycerides:Dose change in phenprocoumon (warfarin) in mg/week per allele:PROP taste detection threshold:Parkinson's disease:Gene expression of VKORC1 in normal prepouch ileum:Gene expression of MYST1 (probeID ILMN_1804679) in cerebellum in Alzheimer's disease cases and controls
16 31926619 2 ZNF267 G A exonic nonsynonymous SNV ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y RS3850114 Obesity with early age of onset (age >2)
16 46655210 2 SHCBP1 A G exonic nonsynonymous SNV SHCBP1:NM_001324318:exon1:c.T62C:p.M21T,SHCBP1:NM_001324319:exon1:c.T62C:p.M21T,SHCBP1:NM_024745:exon1:c.T62C:p.M21T
16 46696284 2 VPS35 G A exonic synonymous SNV VPS35:NM_018206:exon15:c.C1938T:p.H646H
16 50326661 2 ADCY7 A G exonic synonymous SNV ADCY7:NM_001114:exon4:c.A612G:p.A204A,ADCY7:NM_001286057:exon5:c.A612G:p.A204A
16 54318528 2 IRX3 A G exonic nonsynonymous SNV IRX3:NM_024336:exon2:c.T1265C:p.L422P
16 55523705 2 MMP2 T C exonic synonymous SNV MMP2:NM_001127891:exon7:c.T999C:p.D333D,MMP2:NM_001302508:exon7:c.T921C:p.D307D,MMP2:NM_001302509:exon7:c.T921C:p.D307D,MMP2:NM_001302510:exon7:c.T921C:p.D307D,MMP2:NM_004530:exon7:c.T1149C:p.D383D RS243849 Fasting blood glucose:HDL cholesterol:Gene expression of LPCAT2 in peripheral blood monocytes:Bipolar disorder:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
16 56548501 2 BBS2 C T exonic nonsynonymous SNV BBS2:NM_031885:exon2:c.G209A:p.S70N
16 56855496 2 NUP93 C G exonic synonymous SNV NUP93:NM_001242795:exon5:c.C276G:p.L92L,NUP93:NM_001242796:exon5:c.C276G:p.L92L,NUP93:NM_014669:exon7:c.C645G:p.L215L RS2118017 HDL cholesterol:Gene expression of MED29 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP)
16 57060340 1 NLRC5 T C exonic synonymous SNV NLRC5:NM_032206:exon5:c.T1485C:p.T495T,NLRC5:NM_001330552:exon6:c.T1485C:p.T495T
16 57562804 2 CCDC102A G A exonic nonsynonymous SNV CCDC102A:NM_033212:exon2:c.C286T:p.R96W
16 57619648 2
16 57786711 2 KATNB1 C T exonic synonymous SNV KATNB1:NM_005886:exon10:c.C726T:p.D242D RS2965798 Biploar disorder (bipolar schizoaffective disorder):Triglycerides
16 57795394 2 KIFC3 G A exonic synonymous SNV KIFC3:NM_001318712:exon12:c.C1497T:p.D499D,KIFC3:NM_001318713:exon12:c.C1377T:p.D459D,KIFC3:NM_001130099:exon13:c.C1386T:p.D462D,KIFC3:NM_001130100:exon14:c.C1803T:p.D601D,KIFC3:NM_001318710:exon14:c.C1869T:p.D623D,KIFC3:NM_001318711:exon14:c.C1629T:p.D543D,KIFC3:NM_001318715:exon14:c.C1386T:p.D462D,KIFC3:NM_005550:exon14:c.C1803T:p.D601D,KIFC3:NM_001318714:exon15:c.C1386T:p.D462D RS2967172 Triglycerides:Body mass index (BMI)
16 57805176 2 KIFC3 A G exonic synonymous SNV KIFC3:NM_001318712:exon4:c.T393C:p.L131L,KIFC3:NM_001318713:exon4:c.T282C:p.L94L,KIFC3:NM_001130099:exon5:c.T282C:p.L94L,KIFC3:NM_001130100:exon6:c.T699C:p.L233L,KIFC3:NM_001318710:exon6:c.T765C:p.L255L,KIFC3:NM_001318711:exon6:c.T525C:p.L175L,KIFC3:NM_001318715:exon6:c.T282C:p.L94L,KIFC3:NM_005550:exon6:c.T699C:p.L233L,KIFC3:NM_001318714:exon7:c.T282C:p.L94L RS2967165 Neuroblastoma (brain cancer):Salmonella-induced pyroptosis:Birth weight
16 58030634 2 ZNF319 C T exonic synonymous SNV ZNF319:NM_020807:exon2:c.G1536A:p.K512K
16 58750604 2 GOT2 G A exonic synonymous SNV GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C
16 58757668 2 GOT2 A C exonic synonymous SNV GOT2:NM_001286220:exon2:c.T228G:p.V76V,GOT2:NM_002080:exon2:c.T228G:p.V76V
16 58757683 2 GOT2 A G exonic synonymous SNV GOT2:NM_001286220:exon2:c.T213C:p.N71N,GOT2:NM_002080:exon2:c.T213C:p.N71N
16 68057096 2 DDX28 T C exonic nonsynonymous SNV DDX28:NM_018380:exon1:c.A10G:p.T4A RS237831 HOMA-B:Gene expression of FHOD1 in peripheral blood monocytes:Aortic valve calcium
16 69967897 2 WWP2 T C exonic synonymous SNV WWP2:NM_199424:exon7:c.T390C:p.H130H,WWP2:NM_001270453:exon14:c.T1359C:p.H453H,WWP2:NM_001270454:exon17:c.T1707C:p.H569H,WWP2:NM_007014:exon18:c.T1707C:p.H569H RS2270841 Total cholesterol:Serum creatinine:Triglycerides:Height:Urinary albumin-to-creatinine ratio
16 69970329 2 WWP2 A G exonic synonymous SNV WWP2:NM_199424:exon9:c.A774G:p.T258T,WWP2:NM_001270453:exon16:c.A1743G:p.T581T,WWP2:NM_001270454:exon19:c.A2091G:p.T697T,WWP2:NM_007014:exon20:c.A2091G:p.T697T RS1983016 Amyotrophic lateral sclerosis (ALS):Arthritis including non-Rheumatoid:Differential splicing of AARS [probeset 3697019] in lymphoblastoid cell lines:Total cholesterol:Asthma:Height:Urinary albumin-to-creatinine ratio:Gene expression of WWP2 in blood:Gene expression of [probe 2490187 centered at chr16:68569411] in blood:Gene expression of [probe 110364 centered at chr16:68752008] in blood:Gene expression of PDXDC2P in normal prepouch ileum:Gene expression of CLEC18A in normal prepouch ileum
16 69973825 2 WWP2 G A exonic synonymous SNV WWP2:NM_199424:exon14:c.G1278A:p.E426E,WWP2:NM_001270453:exon21:c.G2247A:p.E749E,WWP2:NM_001270454:exon24:c.G2595A:p.E865E,WWP2:NM_007014:exon25:c.G2595A:p.E865E RS3748389 Gene expression of LOC440348 [probe 221992_at] in lymphoblastoid cell lines:Chronic kidney disease:Adiponectin levels:Birth weight
16 70287177 2 AARS A G exonic synonymous SNV AARS:NM_001605:exon20:c.T2715C:p.V905V RS4081753 Barnes Akathisia Rating Scale:Gene expression of EXOSC6 in peripheral blood monocytes:Height:Urinary albumin-to-creatinine ratio:serum testosterone:Uracil
16 70548297 2 COG4 G A exonic nonsynonymous SNV COG4:NM_001195139:exon4:c.C485T:p.T162I,COG4:NM_015386:exon4:c.C485T:p.T162I RS3931036 Spine bone mineral density (BMD):Differential exon level expression of COG4 [probe 3697153] in peripheral blood mononuclear cells:Differential exon level expression of COG4 [probe 3697153] in brain cortex:Alzheimer's disease:Gene expression of EXOSC6 in peripheral blood monocytes:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio
16 71319646 2 CMTR2 G A exonic nonsynonymous SNV CMTR2:NM_001324378:exon2:c.C178T:p.L60F,CMTR2:NM_001324379:exon2:c.C178T:p.L60F,CMTR2:NM_001099642:exon3:c.C178T:p.L60F,CMTR2:NM_001324374:exon3:c.C178T:p.L60F,CMTR2:NM_001324377:exon3:c.C178T:p.L60F,CMTR2:NM_018348:exon3:c.C178T:p.L60F RS3096380 HOMA-B:Years of education:College completion
16 71487206 2 ZNF23 T C exonic nonsynonymous SNV ZNF23:NM_001304492:exon4:c.A82G:p.S28G,ZNF23:NM_145911:exon5:c.A82G:p.S28G RS2070832 Serum creatinine:Waist hip ratio:Late onset Alzheimer's disease:Gene expression of PHLPPL in blood:PROP taste detection threshold:Gene expression of ZNF19 in normal prepouch ileum
16 71509796 2 ZNF19 C G exonic nonsynonymous SNV ZNF19:NM_006961:exon6:c.G654C:p.Q218H RS8050871 HDL cholesterol:Waist hip ratio
16 75269267 2 BCAR1 A G exonic synonymous SNV BCAR1:NM_001170721:exon4:c.T900C:p.A300A,BCAR1:NM_001170715:exon5:c.T1584C:p.A528A,BCAR1:NM_001170716:exon5:c.T1584C:p.A528A,BCAR1:NM_001170717:exon5:c.T1584C:p.A528A,BCAR1:NM_001170718:exon5:c.T1530C:p.A510A,BCAR1:NM_001170719:exon5:c.T1524C:p.A508A,BCAR1:NM_014567:exon5:c.T1530C:p.A510A,BCAR1:NM_001170714:exon6:c.T1668C:p.A556A,BCAR1:NM_001170720:exon6:c.T1086C:p.A362A RS3169330 HDL cholesterol:Aortic valve calcium:Gene expression of CTRB2 (probeID ILMN_1767643) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CTRB2 (probeID ILMN_1767643) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 77228629 2 MON1B A G exonic synonymous SNV MON1B:NM_001286640:exon2:c.A435G:p.R145R,MON1B:NM_001286639:exon3:c.A546G:p.R182R,MON1B:NM_014940:exon4:c.A873G:p.R291R
16 77233394 2 SYCE1L A G exonic nonsynonymous SNV SYCE1L:NM_001129979:exon1:c.A46G:p.T16A,SYCE1L:NM_001348924:exon1:c.A46G:p.T16A
16 81050965 2 CENPN A T exonic nonsynonymous SNV CENPN:NM_001100624:exon4:c.A252T:p.E84D,CENPN:NM_001100625:exon4:c.A252T:p.E84D,CENPN:NM_001270474:exon4:c.A252T:p.E84D,CENPN:NM_018455:exon4:c.A252T:p.E84D
16 81157324 2 PKD1L2 G A exonic unknown UNKNOWN RS4889241 Partial epilepsy
16 84217062 2 TAF1C C T exonic nonsynonymous SNV TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y
16 84516309 2 TLDC1 G A exonic synonymous SNV TLDC1:NM_020947:exon6:c.C966T:p.N322N RS433293 Serum creatinine
16 84520325 2 TLDC1 T C exonic synonymous SNV TLDC1:NM_020947:exon5:c.A870G:p.G290G RS431389 Serum creatinine
16 84520396 2 TLDC1 A G exonic nonsynonymous SNV TLDC1:NM_020947:exon5:c.T799C:p.C267R
16 84520537 2 TLDC1 T C exonic nonsynonymous SNV TLDC1:NM_020947:exon5:c.A658G:p.I220V
16 84522897 2 TLDC1 G C exonic nonsynonymous SNV TLDC1:NM_020947:exon4:c.C516G:p.D172E RS436278 Tardive dyskinesia:Serum creatinine
16 84808824 2 USP10 C G exonic synonymous SNV USP10:NM_005153:exon13:c.C2202G:p.L734L,USP10:NM_001272075:exon14:c.C2214G:p.L738L RS774298 Methylation levels at chr5:176951869-176951919 [hg18 coord, probe cg06665799] in Caudal pons:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
16 85838653 2 COX4I1 T C exonic synonymous SNV COX4I1:NM_001318786:exon3:c.T184C:p.L62L,COX4I1:NM_001318788:exon3:c.T184C:p.L62L,COX4I1:NM_001318794:exon3:c.T184C:p.L62L,COX4I1:NM_001318797:exon3:c.T70C:p.L24L,COX4I1:NM_001861:exon3:c.T184C:p.L62L RS2599091 Simpson-Angus Scale
16 86565826 2 MTHFSD C G exonic nonsynonymous SNV MTHFSD:NM_001159377:exon8:c.G943C:p.G315R,MTHFSD:NM_001159378:exon8:c.G943C:p.G315R,MTHFSD:NM_001159379:exon8:c.G940C:p.G314R,MTHFSD:NM_001159380:exon8:c.G883C:p.G295R,MTHFSD:NM_022764:exon8:c.G940C:p.G314R RS3751803 Total cholesterol
16 87446053 2 ZCCHC14 G A exonic synonymous SNV ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A RS2042395 Years of education:College completion
16 88017809 2 BANP C T exonic synonymous SNV BANP:NM_001173539:exon4:c.C306T:p.V102V,BANP:NM_001173540:exon4:c.C324T:p.V108V,BANP:NM_001173541:exon4:c.C306T:p.V102V,BANP:NM_001173542:exon4:c.C306T:p.V102V,BANP:NM_001173543:exon4:c.C282T:p.V94V,BANP:NM_017869:exon4:c.C306T:p.V102V,BANP:NM_079837:exon4:c.C306T:p.V102V
16 88600079 2 ZFPM1 C G exonic synonymous SNV ZFPM1:NM_153813:exon10:c.C1713G:p.P571P
16 88644005 2 ZC3H18 A G exonic synonymous SNV ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K
16 88709828 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon6:c.T521C:p.V174A
16 88713236 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon4:c.T214C:p.Y72H RS4673 Abnormal Involuntary Movement Scale:Tardive dyskinesia:Serum creatinine:Autism with verbal ability:Height:Gene expression of CYBA in blood
16 88781125 2 CTU2 T C exonic synonymous SNV CTU2:NM_001318513:exon11:c.T1071C:p.C357C,CTU2:NM_001012759:exon12:c.T1332C:p.C444C,CTU2:NM_001012762:exon12:c.T1332C:p.C444C,CTU2:NM_001318507:exon12:c.T1545C:p.C515C
16 88782676 2 PIEZO1 A G exonic synonymous SNV PIEZO1:NM_001142864:exon49:c.T7059C:p.P2353P RS2290902 Hip bone mineral density (BMD):Fasting insulin:HOMA-IR:Bicuspid aortic valve:Height:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RNF166 in blood:Gene expression of C16orf84///FAM38A in blood:Primary rhegmatogenous retinal detachment:Transmission distortion
16 88783521 2 PIEZO1 T C exonic synonymous SNV PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P
16 88787704 2 PIEZO1 G C exonic synonymous SNV PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A
16 88792047 2 PIEZO1 A G exonic synonymous SNV PIEZO1:NM_001142864:exon28:c.T4014C:p.F1338F RS4782430 Serum creatinine:Bipolar disorder versus schizophrenia:Gene expression of FAM38A in peripheral blood monocytes:Gene expression of SNAI3 in peripheral blood monocytes
16 88804734 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon7:c.T749C:p.V250A RS7184427 LDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Triglycerides change with statins:Height
16 88808743 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon3:c.T248C:p.I83T RS6500495 Gene expression of SNAI3 in peripheral blood monocytes
16 88872145 2 CDT1 T C exonic nonsynonymous SNV CDT1:NM_030928:exon5:c.T700C:p.C234R
16 88872511 2 CDT1 T C exonic synonymous SNV CDT1:NM_030928:exon6:c.T915C:p.H305H RS510862 Rheumatoid arthritis:2 hour glucose:Total cholesterol:LDL cholesterol:Age at death with kuru exposure:Salmonella-induced pyroptosis:Gene expression of CTU2 (ENSG00000174177) in dendritic cells treated with Mycobacterium tuberculosis
16 89167140 2 ACSF3 G C exonic synonymous SNV ACSF3:NM_001127214:exon2:c.G51C:p.A17A,ACSF3:NM_001243279:exon3:c.G51C:p.A17A,ACSF3:NM_174917:exon3:c.G51C:p.A17A
16 89293614 2 ZNF778 A G exonic synonymous SNV ZNF778:NM_182531:exon6:c.A834G:p.E278E,ZNF778:NM_001201407:exon7:c.A918G:p.E306E RS4785626 Differential exon level expression of ZNF778 [probe 3673937] in brain cortex:HDL cholesterol
16 89294184 2 ZNF778 G A exonic synonymous SNV ZNF778:NM_182531:exon6:c.G1404A:p.A468A,ZNF778:NM_001201407:exon7:c.G1488A:p.A496A
16 89294381 2 ZNF778 T C exonic nonsynonymous SNV ZNF778:NM_182531:exon6:c.T1601C:p.I534T,ZNF778:NM_001201407:exon7:c.T1685C:p.I562T
16 89294511 2 ZNF778 C T exonic synonymous SNV ZNF778:NM_182531:exon6:c.C1731T:p.T577T,ZNF778:NM_001201407:exon7:c.C1815T:p.T605T
16 89662990 2 CPNE7 T C exonic synonymous SNV CPNE7:NM_153636:exon15:c.T1638C:p.G546G,CPNE7:NM_014427:exon17:c.T1863C:p.G621G
16 89783187 2 VPS9D1 C T exonic synonymous SNV VPS9D1:NM_004913:exon3:c.G219A:p.K73K
16 90109711 2 GAS8 A G exonic synonymous SNV GAS8:NM_001286208:exon10:c.A819G:p.T273T,GAS8:NM_001286205:exon11:c.A1146G:p.T382T,GAS8:NM_001286209:exon11:c.A1320G:p.T440T,GAS8:NM_001481:exon11:c.A1395G:p.T465T
17 465775 1 VPS53 G A exonic synonymous SNV VPS53:NM_018289:exon13:c.C1437T:p.Y479Y,VPS53:NM_001128159:exon14:c.C1524T:p.Y508Y RS2075443 Gene expression of C17orf97 in blood:Gene expression of VPS53 in blood:Age at death with kuru exposure:Variant Creutzfeldt-Jakob disease:Transmission distortion:hsa-miR-22 miRNA expression in lymphoblastoid cell lines 
17 648498 2 GEMIN4 C T exonic nonsynonymous SNV GEMIN4:NM_015721:exon2:c.G2785A:p.D929N RS2740349 Arthritis including non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:Gene expression of VPS53 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
17 649935 2 GEMIN4 G C exonic nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E RS2740348 Comorbid depressive syndrome and alcohol dependence
17 970413 2 ABR C T exonic synonymous SNV ABR:NM_001282149:exon5:c.G432A:p.E144E,ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_001322840:exon10:c.G948A:p.E316E,ABR:NM_001322841:exon10:c.G1863A:p.E621E,ABR:NM_021962:exon10:c.G1086A:p.E362E RS2262150 Waist hip ratio:Gene expression of TIMM22 in blood:Infant head circumference
17 1384066 2 MYO1C A G exonic synonymous SNV MYO1C:NM_001080779:exon6:c.T741C:p.G247G,MYO1C:NM_001080950:exon6:c.T684C:p.G228G,MYO1C:NM_033375:exon6:c.T636C:p.G212G
17 1611433 2 TLCD2 A G exonic synonymous SNV TLCD2:NM_001164407:exon4:c.T426C:p.S142S RS4790809 PROP taste detection threshold:Salmonella-induced pyroptosis
17 1630992 1 WDR81 G A exonic synonymous SNV WDR81:NM_001163809:exon1:c.G2739A:p.L913L RS9912287 Triglycerides:Total cholesterol:Serum calcium:Body mass index (BMI):Microalbuminuria:Adiponectin levels:Gene expression of SERPINF2 (ENSG00000167711) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of SERPINF2 (ENSG00000167711) in dendritic cells after treatment with Mycobacterium tuberculosis:Advanced age-related macular degeneration (geographic atrophy)
17 1637074 1 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon7:c.A1134G:p.P378P,WDR81:NM_001163809:exon7:c.A4743G:p.P1581P,WDR81:NM_001163811:exon7:c.A1062G:p.P354P,WDR81:NM_152348:exon8:c.A1590G:p.P530P RS3809871 Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Adiponectin levels
17 1637302 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L RS3809872 Gene expression of RPA1 (ENSG00000132383) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
17 1637458 1 WDR81 G A exonic synonymous SNV WDR81:NM_001163673:exon7:c.G1518A:p.P506P,WDR81:NM_001163809:exon7:c.G5127A:p.P1709P,WDR81:NM_001163811:exon7:c.G1446A:p.P482P,WDR81:NM_152348:exon8:c.G1974A:p.P658P RS8065251 Triglycerides:Total cholesterol:Serum calcium:Body mass index (BMI):Microalbuminuria:Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy)
17 1639458 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T
17 1640793 1 WDR81 C T exonic synonymous SNV WDR81:NM_001163673:exon10:c.C2031T:p.S677S,WDR81:NM_001163809:exon10:c.C5640T:p.S1880S,WDR81:NM_001163811:exon10:c.C1959T:p.S653S,WDR81:NM_152348:exon11:c.C2487T:p.S829S RS8077638 Triglycerides:Total cholesterol:Serum calcium:Cerebrospinal fluid levels of Phosphorylated tau protein (P-tau181p) (Mild cognitive impairment subjects):Beta-amyloid peptide (Abeta1-42) in cerebrospinal fliud in mild cognitive impairment subjects:Body mass index (BMI):Neuroblastoma (brain cancer):Microalbuminuria:Advanced age-related macular degeneration (geographic atrophy):Adiponectin levels
17 1680002 2 SERPINF1 T C exonic synonymous SNV SERPINF1:NM_001329905:exon3:c.T402C:p.Y134Y,SERPINF1:NM_001329904:exon6:c.T402C:p.Y134Y,SERPINF1:NM_001329903:exon7:c.T963C:p.Y321Y,SERPINF1:NM_002615:exon7:c.T963C:p.Y321Y RS6828 Cystatin C in serum:Gene expression of RPA1 in peripheral blood monocytes:Microalbuminuria:Urinary albumin-to-creatinine ratio:Paternal transmission distortion
17 1686410 2 SMYD4 T C exonic nonsynonymous SNV SMYD4:NM_052928:exon10:c.A2180G:p.Y727C RS9902398 Gene expression of SERPINF1 [probe 3705967] in peripheral blood mononuclear cells:Late onset Alzheimer's disease:Gene expression of RPA1///ENST00000342279 in blood:Years of education:College completion:Hypertension (early onset hypertension):Maternal transmission distortion
17 2186100 1 SMG6 C T exonic synonymous SNV SMG6:NM_017575:exon8:c.G2502A:p.Q834Q RS749240 Gene expression of SRR [probe 219205_at] in lymphoblastoid cell lines:Aortic root size:Total cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Body mass index (BMI):Mitral annular calcium:Obesity with early age of onset (age >2):Parkinson's disease:Behcet's disease
17 2202943 1 SMG6 T C exonic synonymous SNV SMG6:NM_017575:exon2:c.A1104G:p.S368S RS216196 Aortic root size:Left atrial size (LA size):Serum creatinine:Body mass index (BMI):Coronary artery disease (CAD):Gene expression of SRR (probeID ILMN_1753515) in temporal cortex in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of SRR (probeID ILMN_1753515) in cerebellum in Alzheimer's disease cases and controls:Coronary artery disease (CAD)
17 2203167 1 SMG6 T G exonic nonsynonymous SNV SMG6:NM_017575:exon2:c.A880C:p.K294Q RS216195 Aortic root size:Total cholesterol:LDL cholesterol:Gene expression of SRR in CD4+ lymphocytes:Neuroblastoma (brain cancer):Systolic blood pressure (SBP):Gene expression of SRR (probeID ILMN_1753515) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of SRR (probeID ILMN_1753515) in temporal cortex in Alzheimer's disease cases and controls:College completion:Parkinson's disease:Hypertension (early onset hypertension):Aortic valve calcium
17 2203453 1 SMG6 A G exonic synonymous SNV SMG6:NM_017575:exon2:c.T594C:p.A198A RS216193 Gene expression of SRR [probe 219205_at] in lymphoblastoid cell lines:HDL cholesterol:Aortic root size:Type 2 diabetes:Total cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Body mass index (BMI):PROP taste detection threshold:Mitral annular calcium:Gene expression of SRR in normal prepouch ileum:Obesity with early age of onset (age >2):Blood pressure response to candesartan treatment:Gene expression change of SMG6 (ENSG00000070366) in dendritic cells after treatment with Mycobacterium tuberculosis
17 2266799 1 SGSM2 G A exonic nonsynonymous SNV SGSM2:NM_001098509:exon7:c.G713A:p.R238K,SGSM2:NM_001346700:exon7:c.G713A:p.R238K,SGSM2:NM_014853:exon7:c.G713A:p.R238K RS745400 HDL cholesterol:Neuroblastoma (brain cancer):Gene expression of SGSM2 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
17 2266812 1 SGSM2 T C exonic synonymous SNV SGSM2:NM_001098509:exon7:c.T726C:p.C242C,SGSM2:NM_001346700:exon7:c.T726C:p.C242C,SGSM2:NM_014853:exon7:c.T726C:p.C242C
17 2268311 1 SGSM2 G A exonic nonsynonymous SNV SGSM2:NM_001098509:exon10:c.G1121A:p.R374Q,SGSM2:NM_001346700:exon10:c.G1121A:p.R374Q,SGSM2:NM_014853:exon10:c.G1121A:p.R374Q RS2248821 HOMA-IR:Fasting insulin:HDL cholesterol:Total cholesterol:HDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Gene expression of TSR1 (ENSG00000167721) in dendritic cells:Mitral annular calcium:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 2595964 1 CLUH G A exonic synonymous SNV CLUH:NM_015229:exon21:c.C3222T:p.A1074A
17 2606715 1 CLUH G A exonic synonymous SNV CLUH:NM_015229:exon3:c.C258T:p.R86R
17 3514028 2 SHPK G C exonic nonsynonymous SNV SHPK:NM_013276:exon7:c.C1263G:p.D421E
17 3561396 2 CTNS C T exonic nonsynonymous SNV CTNS:NM_001031681:exon10:c.C779T:p.T260I,CTNS:NM_004937:exon10:c.C779T:p.T260I
17 4088291 2 ANKFY1 C T exonic synonymous SNV ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T
17 4455500 2 MYBBP1A T C exonic synonymous SNV MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A
17 4497160 2 SMTNL2 T C exonic synonymous SNV SMTNL2:NM_001114974:exon4:c.T774C:p.Y258Y,SMTNL2:NM_198501:exon4:c.T342C:p.Y114Y RS8080130 Gene expression of MYBBP1A [probe 3742130] in peripheral blood mononuclear cells:Fasting blood glucose:Rheumatoid arthritis:Triglycerides:Asthma:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease
17 4575283 2 PELP1 A G exonic synonymous SNV PELP1:NM_014389:exon16:c.T3153C:p.P1051P
17 4638484 2 CXCL16 T C exonic synonymous SNV CXCL16:NM_001100812:exon4:c.A678G:p.P226P,CXCL16:NM_022059:exon4:c.A678G:p.P226P RS1876444 HOMA-B:Gene expression of ZMYND15 [transcript NM_032265, probe A_23_P89570] in liver
17 4638563 2 CXCL16 G A exonic nonsynonymous SNV CXCL16:NM_001100812:exon4:c.C599T:p.A200V,CXCL16:NM_022059:exon4:c.C599T:p.A200V RS2277680 Schizophrenia:Serum creatinine:Neuroblastoma (brain cancer):Gene expression of CXCL16 [probe ILMN_29805] in osteoblasts treated with dexamethasone:Gene expression of CXCL16 [probe ILMN_29805] in untreated osteoblasts:Gene expression of CXCL16 [probe ILMN_29805] in osteoblasts treated with BMP2:Gene expression of ZMYND15 in blood:Gene expression of MED11///CXCL16 in blood:Transmission distortion
17 4638737 2 CXCL16 A G exonic nonsynonymous SNV CXCL16:NM_001100812:exon4:c.T425C:p.I142T,CXCL16:NM_022059:exon4:c.T425C:p.I142T RS1050998 Schizophrenia:Serum creatinine:Triglycerides:Neuroblastoma (brain cancer):Gene expression of MED11///CXCL16 in blood:Gene expression of ZMYND15 in blood:Transmission distortion
17 4641755 2 CXCL16 C T exonic synonymous SNV CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G
17 4718776 2 PLD2 G A exonic synonymous SNV PLD2:NM_001243108:exon13:c.G1179A:p.E393E,PLD2:NM_002663:exon13:c.G1179A:p.E393E
17 7129840 1 DVL2 T C exonic synonymous SNV DVL2:NM_004422:exon14:c.A1662G:p.Q554Q
17 7132556 1 DVL2 C T exonic synonymous SNV DVL2:NM_004422:exon8:c.G855A:p.Q285Q RS222837 Gene expression of DERP6 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C17orf81 in lymphoblastoid cell lines:Differential exon level expression of C17orf81 [probe 3708392] in peripheral blood mononuclear cells:Fasting blood glucose:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Gene expression of C17orf81 [probeset 219260_s_at] in sputum:Gene expression of C17orf81 in normal prepouch ileum:Adiponectin levels:Gene expression of DLG4 (probeID ILMN_1768595) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CLDN7 in normal prepouch ileum:Birth weight:Gene expression of DLG4 (probeID ILMN_1768595) in cerebellum in Alzheimer's disease cases and controls
17 7133162 1 DVL2 G A exonic synonymous SNV DVL2:NM_004422:exon5:c.C621T:p.S207S RS222836 Gene expression of C17orf81 [probe 223286_at] in lymphoblastoid cell lines:Gene expression of C17orf81 [probe 219260_s_at] in lymphoblastoid cell lines:Gene expression of C17orf81 in normal prepouch ileum:Gene expression of CLDN7 in normal prepouch ileum:Gene expression of DLG4 (probeID ILMN_1768595) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of DLG4 (probeID ILMN_1768595) in cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Birth weight
17 7154534 1 CTDNEP1 G A exonic synonymous SNV CTDNEP1:NM_001143775:exon1:c.C82T:p.L28L,CTDNEP1:NM_015343:exon2:c.C82T:p.L28L
17 7230845 1 NEURL4 G T exonic nonsynonymous SNV NEURL4:NM_001005408:exon2:c.C641A:p.P214H,NEURL4:NM_032442:exon2:c.C641A:p.P214H
17 7286266 1 TNK1 C T exonic synonymous SNV TNK1:NM_001251902:exon2:c.C21T:p.S7S,TNK1:NM_003985:exon2:c.C21T:p.S7S RS1554947 Fasting insulin:HOMA-IR:HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:Chronic kidney disease:Methylation levels at chr17:7224773-7224823 [hg18 coord, probe cg18632631] in Cerebellum:Methylation levels at chr17:7224773-7224823 [hg18 coord, probe cg18632631] in Caudal pons
17 7318396 2 NLGN2 C T exonic synonymous SNV NLGN2:NM_020795:exon5:c.C966T:p.S322S RS2241233 Eye color:Alzheimer's disease:HDL cholesterol:LDL cholesterol:Total cholesterol:Age at menarche:Gene expression of [probe 6290132 centered at chr17:7084491] in blood:Acute lung injury following major trauma:Circulating sex hormone-binding globulin levels in non-postmenopausal hormone users:Serum testosterone (T) level:Serum dihydrotestosterone (DHT) level:Circulating sex hormone-binding globulin levels
17 7400137 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon5:c.T592C:p.L198L
17 7404107 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon11:c.T1821C:p.S607S
17 7404991 2 POLR2A T C exonic synonymous SNV POLR2A:NM_000937:exon14:c.T2292C:p.N764N RS2228130 Ischemic stroke:Fasting insulin:HDL cholesterol change with statins:HDL cholesterol:Waist hip ratio:Gene expression of TNFSF13 [transcript NM_003808, probe A_23_P152620] in liver:Serum testosterone (T) level:Serum dihydrotestosterone (DHT) level
17 7416683 2 POLR2A A G exonic synonymous SNV POLR2A:NM_000937:exon29:c.A5100G:p.S1700S
17 7417086 2 POLR2A G A exonic nonsynonymous SNV POLR2A:NM_000937:exon29:c.G5503A:p.A1835T
17 7460559 2 TNFSF12 T G exonic synonymous SNV TNFSF12:NM_003809:exon7:c.T642G:p.G214G
17 7477938 2 EIF4A1 G C exonic synonymous SNV EIF4A1:NM_001204510:exon3:c.G147C:p.A49A,EIF4A1:NM_001416:exon3:c.G147C:p.A49A
17 7751388 1 KDM6B C A exonic synonymous SNV KDM6B:NM_001080424:exon11:c.C1782A:p.P594P,KDM6B:NM_001348716:exon11:c.C1782A:p.P594P
17 7751751 1 KDM6B C T exonic synonymous SNV KDM6B:NM_001080424:exon11:c.C2145T:p.H715H,KDM6B:NM_001348716:exon11:c.C2145T:p.H715H
17 7849087 1 CNTROB C G exonic synonymous SNV CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_001330124:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P RS4462665 Fasting blood glucose:Methylation levels at chr17:7773204-7773254 [hg18 coord, probe cg03386903] in Cerebellum:Body mass index (BMI):Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
17 8424270 2 MYH10 G A exonic synonymous SNV MYH10:NM_005964:exon17:c.C2106T:p.N702N,MYH10:NM_001256095:exon18:c.C2133T:p.N711N,MYH10:NM_001256012:exon19:c.C2199T:p.N733N
17 9395231 2 STX8 G A exonic synonymous SNV STX8:NM_004853:exon6:c.C456T:p.D152D RS9893664 HOMA-B:Advanced age-related macular degeneration:Mitral annular calcium
17 9471711 2 STX8 T G exonic synonymous SNV STX8:NM_004853:exon2:c.A94C:p.R32R RS1133295 Urinary albumin-to-creatinine ratio:Asparagine:Histidine
17 16068383 1 NCOR1 G A exonic synonymous SNV NCOR1:NM_001190438:exon2:c.C201T:p.L67L,NCOR1:NM_001190440:exon4:c.C528T:p.L176L,NCOR1:NM_006311:exon5:c.C528T:p.L176L
17 16859628 2
17 17046024 1 MPRIP C A exonic nonsynonymous SNV MPRIP:NM_015134:exon8:c.C980A:p.P327Q,MPRIP:NM_201274:exon8:c.C980A:p.P327Q RS3744137 Arthritis including non-Rheumatoid:Longstanding arthritis:Differential exon level expression of M-RIP [probe 3712429] in brain cortex:HOMA-B:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Atopy:Allergic rhinitis:Gene expression of COPS3 in blood:Decrease in FEV1 (in nonasthmatic participants):Salmonella-induced pyroptosis
17 17062241 1 MPRIP C G exonic synonymous SNV MPRIP:NM_015134:exon14:c.C1971G:p.A657A,MPRIP:NM_201274:exon14:c.C1971G:p.A657A
17 17168164 1 COPS3 G A exonic synonymous SNV COPS3:NM_001316358:exon4:c.C258T:p.I86I,COPS3:NM_001316356:exon5:c.C372T:p.I124I,COPS3:NM_001316357:exon5:c.C258T:p.I86I,COPS3:NM_001199125:exon6:c.C513T:p.I171I,COPS3:NM_001316354:exon6:c.C183T:p.I61I,COPS3:NM_001316355:exon6:c.C573T:p.I191I,COPS3:NM_003653:exon6:c.C573T:p.I191I RS3182911 Gene expression of BHD in CEU-CHB-JPT lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of M-RIP [probe 3712429] in brain cortex:Total cholesterol change with statins:LDL cholesterol change with statins:Chronic kidney disease:Gene expression of NT5M in blood:Gene expression of FLCN in blood:Gene expression of COPS3 in blood:Gene expression of AC055811.3 in blood:Gene expression of [probe 6980148 centered at chr17:17065490] in blood:Gene expression of FLCN (probeID ILMN_1814952) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FLCN (probeID ILMN_1814952) in cerebellum in Alzheimer's disease cases and controls:Transmission distortion:Tetrology of fallot:Gene expression of FLCN (probeID ILMN_1814952) in cerebellum in Alzheimer's disease cases:Gene expression of FLCN (probeID ILMN_1814952) in cerebellum in non-Alzheimer's disease samples
17 18137141 2 LLGL1 A G exonic nonsynonymous SNV LLGL1:NM_004140:exon5:c.A442G:p.S148G RS2290505 Type 2 diabetes:Triglycerides change with statins:HDL cholesterol change with statins:HDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of LRRC48 in blood:Gene expression of TOP3A in blood:Gene expression of LLGL1///FLII in blood
17 18694277 2 TVP23B G A exonic nonsynonymous SNV TVP23B:NM_001316924:exon3:c.G164A:p.G55E,TVP23B:NM_016078:exon3:c.G164A:p.G55E
17 18702220 1 TVP23B T C exonic synonymous SNV TVP23B:NM_001316923:exon4:c.T168C:p.A56A,TVP23B:NM_001316919:exon5:c.T234C:p.A78A,TVP23B:NM_001316920:exon5:c.T234C:p.A78A,TVP23B:NM_001316921:exon5:c.T234C:p.A78A,TVP23B:NM_001316922:exon5:c.T168C:p.A56A,TVP23B:NM_001316924:exon5:c.T426C:p.A142A,TVP23B:NM_016078:exon5:c.T426C:p.A142A RS8080471 Triglycerides:Biploar disorder (bipolar schizoaffective disorder):Rheumatoid arthritis:Gene expression of FAM18B2 in peripheral blood monocytes:Gene expression of PRPSAP2 in peripheral blood monocytes:Height
17 19458972 1 SLC47A1 C T exonic synonymous SNV SLC47A1:NM_018242:exon8:c.C708T:p.L236L
17 19644472 1 ALDH3A1 A T exonic synonymous SNV ALDH3A1:NM_001135168:exon5:c.T741A:p.P247P,ALDH3A1:NM_001330150:exon5:c.T522A:p.P174P,ALDH3A1:NM_000691:exon6:c.T741A:p.P247P,ALDH3A1:NM_001135167:exon6:c.T741A:p.P247P
17 25909850 1 KSR1 G T exonic synonymous SNV KSR1:NM_014238:exon5:c.G288T:p.L96L RS2293181 Longstanding arthritis:HDL cholesterol change with statins:Gene expression of LGALS9 in blood:Sporadic Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment
17 26684394 2 POLDIP2 T G exonic unknown UNKNOWN
17 26684449 2 POLDIP2 G C exonic unknown UNKNOWN
17 27009749 1 SUPT6H C T exonic synonymous SNV SUPT6H:NM_003170:exon14:c.C1602T:p.G534G,SUPT6H:NM_001320755:exon15:c.C1602T:p.G534G RS12051648 Barnes Akathisia Rating Scale:Simpson-Angus Scale:LDL cholesterol:Total cholesterol:Height:Salmonella-induced pyroptosis:Years of education:Aortic valve calcium
17 27185827 1 ERAL1 C T exonic synonymous SNV ERAL1:NM_001317985:exon7:c.C942T:p.D314D,ERAL1:NM_005702:exon7:c.C945T:p.D315D RS2242345 Gene expression of ERAL1 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of ERAL1 probe [GI_24307898-S] in brain cortex with no Alzheimer's interaction:Lp-PLA2 activity:Total cholesterol:LDL cholesterol:Presence of peripupillary pigmented ring:Systolic blood pressure (SBP):Mean corpuscular hemoglobin concentration (MCHC):Salmonella-induced pyroptosis:Years of education:Mean corpuscular volume (MCV):Aortic valve calcium
17 27835138 2 TAOK1 C T exonic synonymous SNV TAOK1:NM_020791:exon14:c.C1563T:p.A521A,TAOK1:NM_025142:exon14:c.C1563T:p.A521A RS508706 HDL cholesterol change with statins:Cystatin C in serum:HDL cholesterol:Height:Body mass index (BMI):Diastolic blood pressure (DBP):PROP taste detection threshold
17 27904711 1 GIT1 G A exonic synonymous SNV GIT1:NM_014030:exon10:c.C933T:p.A311A,GIT1:NM_001085454:exon11:c.C960T:p.A320A
17 29508775 2 NF1 G A exonic synonymous SNV NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L RS1801052 LDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):LDL cholesterol:Total cholesterol:Total cholesterol:LDL cholesterol:Height:Waist hip ratio:Body mass index (BMI):Gene expression of NF1 in normal prepouch ileum:Obesity with early age of onset (age >2)
17 30302581 1 SUZ12 C T exonic synonymous SNV SUZ12:NM_001321207:exon6:c.C603T:p.P201P,SUZ12:NM_015355:exon7:c.C672T:p.P224P
17 30302638 1 SUZ12 T C exonic synonymous SNV SUZ12:NM_001321207:exon6:c.T660C:p.H220H,SUZ12:NM_015355:exon7:c.T729C:p.H243H
17 30302681 1 SUZ12 G A exonic nonsynonymous SNV SUZ12:NM_001321207:exon6:c.G703A:p.G235R,SUZ12:NM_015355:exon7:c.G772A:p.G258R
17 33288882 2 ZNF830 T G exonic nonsynonymous SNV ZNF830:NM_052857:exon1:c.T297G:p.H99Q RS931196 Fasting blood glucose:Rheumatoid arthritis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
17 33289046 1 ZNF830 G C exonic nonsynonymous SNV ZNF830:NM_052857:exon1:c.G461C:p.S154T RS3744355 HDL cholesterol change with statins:Total cholesterol change with statins:PROP taste detection threshold:Obesity with early age of onset (age >2):College completion
17 33464864 2 NLE1 C T exonic nonsynonymous SNV NLE1:NM_018096:exon5:c.G506A:p.R169K RS7215209 HOMA-B:Comorbid depressive syndrome and alcohol dependence:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
17 35478362 2 ACACA T C exonic synonymous SNV ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T
17 35609866 1 ACACA C T exonic synonymous SNV ACACA:NM_198837:exon13:c.G1638A:p.Q546Q,ACACA:NM_198838:exon14:c.G1578A:p.Q526Q,ACACA:NM_198834:exon15:c.G1923A:p.Q641Q,ACACA:NM_198836:exon15:c.G1812A:p.Q604Q,ACACA:NM_198839:exon19:c.G1812A:p.Q604Q
17 35771468 2 TADA2A C T exonic nonsynonymous SNV TADA2A:NM_001166105:exon2:c.C16T:p.P6S,TADA2A:NM_001291918:exon2:c.C16T:p.P6S,TADA2A:NM_001488:exon2:c.C16T:p.P6S,TADA2A:NM_133439:exon2:c.C16T:p.P6S RS7211875 Gene expression of DUSP14 [probe 203367_at] in lymphoblastoid cell lines:Eye color:Gene expression of DUSP14 in blood cells in Celiac disease:Chronic kidney disease:Late onset Alzheimer's disease:Gene expression of DUSP14 in blood:Advanced age-related macular degeneration
17 35984410 1 DDX52 T C exonic nonsynonymous SNV DDX52:NM_007010:exon9:c.A1207G:p.M403V,DDX52:NM_001291476:exon10:c.A883G:p.M295V RS7216445 Gene expression of DUSP14 in blood:Gene expression of DDX52 in blood:Maternal transmission distortion:Gene expression of DDX52 in normal prepouch ileum:Gene expression of DDX52 (ENSG00000141141) in dendritic cells treated with Mycobacterium tuberculosis
17 35988672 1 DDX52 C T exonic synonymous SNV DDX52:NM_007010:exon6:c.G792A:p.R264R,DDX52:NM_001291476:exon7:c.G468A:p.R156R RS7224513 Gene expression of DDX52 in normal prepouch ileum
17 36646386 2 ARHGAP23 A G exonic synonymous SNV ARHGAP23:NM_001199417:exon18:c.A3030G:p.A1010A
17 36666551 2 ARHGAP23 T C exonic synonymous SNV ARHGAP23:NM_001199417:exon24:c.T3819C:p.D1273D
17 36861983 2 MLLT6 T C exonic nonsynonymous SNV MLLT6:NM_005937:exon1:c.T98C:p.V33A
17 37830900 2 PGAP3 A G exonic synonymous SNV PGAP3:NM_001291726:exon3:c.T312C:p.V104V,PGAP3:NM_001291730:exon4:c.T465C:p.V155V,PGAP3:NM_033419:exon4:c.T465C:p.V155V RS2941504 Crohn's disease, combined control dataset:Irritible bowel syndrome:HDL cholesterol:Major depressive disorder:Serum creatinine:Rheumatoid arthritis:Gene expression of PERLD1 in peripheral blood monocytes:Total cholesterol:HDL cholesterol:Severe asthma:Asthma, childhood, later and unknown onset, and severe asthma:Asthma, childhood, later and unknown onset, and severe and industrial asthma:Asthma, childhood onset:Asthma, childhood and later onset:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Pediatric asthma:Gene expression of CRKRS in blood:Gene expression of ORMDL3 in blood:Gene expression of PNMT///PERLD1 in blood:Gene expression of GSDMB in blood:Asthma:Asthma (without atopy):Gene expression of PERLD1 in liver:Gene expression of PGAP3 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of GSDMB in normal prepouch ileum:College completion:Gene expression of GSDMB (probeID ILMN_1666206) in whole blood:Advanced age-related macular degeneration (geographic atrophy):Years of education
17 37898543 2 GRB7 T C exonic nonsynonymous SNV GRB7:NM_001242442:exon2:c.T58C:p.C20R
17 39674641 2 KRT15 T C exonic nonsynonymous SNV KRT15:NM_002275:exon1:c.A439G:p.T147A RS1050784 Arthritis including non-Rheumatoid:Triglycerides:Eur students <30 Animals:Resistance to kuru in aged women despite likely exposure
17 39681475 2 KRT19 A G exonic synonymous SNV KRT19:NM_002276:exon2:c.T471C:p.N157N
17 39684321 2 KRT19 G C exonic nonsynonymous SNV KRT19:NM_002276:exon1:c.C179G:p.A60G
17 39684410 2 KRT19 G A exonic synonymous SNV KRT19:NM_002276:exon1:c.C90T:p.A30A
17 39967442 1 P3H4 T C exonic nonsynonymous SNV P3H4:NM_006455:exon2:c.A557G:p.Q186R RS13412 Irritible bowel syndrome:Schizophrenia:Triglycerides change with statins:HDL cholesterol:Gene expression of EIF1 in liver:Gene expression of TTC25 in blood:Gene expression of NT5C3L in blood:Obesity with early age of onset (age >2)
17 39983808 2 NT5C3B G C exonic nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C638G:p.S213C RS1046404 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of NT5C3L (probeID ILMN_1750511) in whole blood:Gene expression of SC65 (ENSG00000141696) in dendritic cells treated with Mycobacterium tuberculosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Gene expression of ACLY (ENSG00000131473) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of NT5C3L (ENSG00000141698) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of KLHL11 (ENSG00000178502) in dendritic cells treated with Mycobacterium tuberculosis
17 39983820 2 NT5C3B G A exonic nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C626T:p.A209V RS1046403 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:Gene expression of NT5C3L in lymphoblastoid cell lines:Eye color:Gene expression of NT5C3L in blood cells in Celiac disease:Schizophrenia:Differential exon level expression of NT5C3L [probe 3757413] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757403] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757407] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757404] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757414] in peripheral blood mononuclear cells:Gene expression of JUP [probe 3757329] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757405] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757409] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757418] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe 3757399] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757408] in peripheral blood mononuclear cells:Gene expression of NT5C3L [transcript ID 3757399] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts:NT5C3L gene expression in lymphoblastoid cell lines:Lp-PLA2 mass:Gene expression of NT5C3L in CD4+ lymphocytes:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with dexamethasone:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with PGE2:Gene expression of NT5C3L [probe ILMN_24101] in untreated osteoblasts:Gene expression of NT5C3L [probe ILMN_24101] in osteoblasts treated with BMP2:Gene expression of JUP in blood:Gene expression of TTC25 in blood:Gene expression of NT5C3L in blood:Gene expression of NT5C3L [probeset 225044_at] in sputum:Gene expression of NT5C3L in liver:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 39983849 2 NT5C3B G C exonic synonymous SNV NT5C3B:NM_052935:exon8:c.C597G:p.L199L RS1128966 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 39987130 2 NT5C3B T C exonic synonymous SNV NT5C3B:NM_052935:exon6:c.A327G:p.A109A RS4796712 Gene expression of MGC20781 in YRI lymphoblastoid cell lines:Gene expression of JUP [probe 3757329] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757355] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757338] in peripheral blood mononuclear cells:Gene expression of NT5C3L [probe 3757399] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757339] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757337] in peripheral blood mononuclear cells:Differential exon level expression of NT5C3L [probe 3757405] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757361] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757353] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757356] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757351] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757352] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757359] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757336] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757357] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757349] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757341] in peripheral blood mononuclear cells:Differential exon level expression of JUP [probe 3757343] in peripheral blood mononuclear cells:Rheumatoid arthritis:NT5C3L gene expression in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Fasting blood glucose:Gene expression of NT5C3L in CD4+ lymphocytes:Gene expression of JUP in CD4+ lymphocytes:Gene expression of NT5C3L in blood:Gene expression of JUP in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Gene expression of NT5C3L in normal prepouch ileum
17 40010979 2 KLHL11 G A exonic synonymous SNV KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y RS3744782 Gene expression of MGC20781 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NT5C3L [probe 225044_at] in lymphoblastoid cell lines:HOMA-B:Advanced age-related macular degeneration:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of NT5C3L (probeID ILMN_1750511) in whole blood:Refractive error
17 40048613 2 ACLY A G exonic synonymous SNV ACLY:NM_001303275:exon15:c.T1821C:p.H607H,ACLY:NM_198830:exon15:c.T1659C:p.H553H,ACLY:NM_001096:exon16:c.T1689C:p.H563H,ACLY:NM_001303274:exon16:c.T1851C:p.H617H RS8065502 Fasting insulin:HOMA-IR:Autism with high IQ:Advanced age-related macular degeneration:Gene expression of NT5C3L in normal prepouch ileum:Gene expression of ACLY in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
17 40689455 2 NAGLU T C exonic synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S RS659497 Diastolic blood pressure (DBP)
17 40696233 2 NAGLU C G exonic nonsynonymous SNV NAGLU:NM_000263:exon6:c.C2209G:p.R737G RS86312 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:HOMA-IR:Fasting insulin:Chronic kidney disease:Triglycerides:HDL cholesterol:Acute lung injury following major trauma:Birth weight
17 40822308 2 PLEKHH3 C A exonic nonsynonymous SNV PLEKHH3:NM_024927:exon11:c.G1641T:p.Q547H
17 40822678 1 PLEKHH3 C T exonic synonymous SNV PLEKHH3:NM_024927:exon10:c.G1467A:p.G489G RS2277618 Stabilized warfarin dose:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Primary rhegmatogenous retinal detachment
17 41116234 2 AARSD1;PTGES3L-AARSD1 G A exonic synonymous SNV AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S
17 41133071 2 RUNDC1 T C exonic nonsynonymous SNV RUNDC1:NM_001321381:exon1:c.T478C:p.W160R,RUNDC1:NM_173079:exon1:c.T478C:p.W160R
17 41165878 2 IFI35 C T exonic synonymous SNV IFI35:NM_001330230:exon6:c.C648T:p.N216N,IFI35:NM_005533:exon6:c.C654T:p.N218N
17 41231404 2 BRCA1 T C exonic nonsynonymous SNV BRCA1:NM_007300:exon13:c.A4370G:p.H1457R
17 41231405 2 BRCA1 G A exonic nonsynonymous SNV BRCA1:NM_007300:exon13:c.C4369T:p.H1457Y
17 41959808 2 MPP2 T C exonic synonymous SNV MPP2:NM_001278371:exon5:c.A492G:p.Q164Q,MPP2:NM_001278373:exon5:c.A492G:p.Q164Q,MPP2:NM_001278374:exon5:c.A108G:p.Q36Q,MPP2:NM_001278375:exon5:c.A492G:p.Q164Q,MPP2:NM_001278376:exon5:c.A576G:p.Q192Q,MPP2:NM_001278370:exon6:c.A660G:p.Q220Q,MPP2:NM_005374:exon6:c.A525G:p.Q175Q,MPP2:NM_001278372:exon7:c.A597G:p.Q199Q,MPP2:NM_001278381:exon7:c.A525G:p.Q175Q RS124721 Triglycerides:HDL cholesterol:HOMA-IR:Total cholesterol:Triglycerides:HDL cholesterol
17 41960343 2 MPP2 T C exonic synonymous SNV MPP2:NM_001278371:exon4:c.A348G:p.T116T,MPP2:NM_001278373:exon4:c.A348G:p.T116T,MPP2:NM_001278375:exon4:c.A348G:p.T116T,MPP2:NM_001278376:exon4:c.A432G:p.T144T,MPP2:NM_001278370:exon5:c.A516G:p.T172T,MPP2:NM_005374:exon5:c.A381G:p.T127T,MPP2:NM_001278372:exon6:c.A453G:p.T151T,MPP2:NM_001278381:exon6:c.A381G:p.T127T RS124719 Stabilized warfarin dose:Triglycerides:HDL cholesterol:HOMA-IR:Fasting insulin:Triglycerides:HDL cholesterol:Asthma
17 41960633 2 MPP2 C G exonic nonsynonymous SNV MPP2:NM_001278371:exon3:c.G208C:p.V70L,MPP2:NM_001278373:exon3:c.G208C:p.V70L,MPP2:NM_001278375:exon3:c.G208C:p.V70L,MPP2:NM_001278376:exon3:c.G292C:p.V98L,MPP2:NM_001278370:exon4:c.G376C:p.V126L,MPP2:NM_005374:exon4:c.G241C:p.V81L,MPP2:NM_001278372:exon5:c.G313C:p.V105L,MPP2:NM_001278381:exon5:c.G241C:p.V81L
17 41960634 2 MPP2 G C exonic nonsynonymous SNV MPP2:NM_001278371:exon3:c.C207G:p.H69Q,MPP2:NM_001278373:exon3:c.C207G:p.H69Q,MPP2:NM_001278375:exon3:c.C207G:p.H69Q,MPP2:NM_001278376:exon3:c.C291G:p.H97Q,MPP2:NM_001278370:exon4:c.C375G:p.H125Q,MPP2:NM_005374:exon4:c.C240G:p.H80Q,MPP2:NM_001278372:exon5:c.C312G:p.H104Q,MPP2:NM_001278381:exon5:c.C240G:p.H80Q
17 43318778 2 FMNL1 G C exonic synonymous SNV FMNL1:NM_005892:exon14:c.G1362C:p.G454G
17 43318779 2 FMNL1 C G exonic nonsynonymous SNV FMNL1:NM_005892:exon14:c.C1363G:p.P455A
17 43319770 1 FMNL1 C T exonic synonymous SNV FMNL1:NM_005892:exon16:c.C1948T:p.L650L RS1801353 HDL cholesterol:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Salmonella-induced pyroptosis
17 43555372 1 PLEKHM1 C T exonic nonsynonymous SNV PLEKHM1:NM_014798:exon3:c.G190A:p.A64T
17 43555449 1 PLEKHM1 G A exonic nonsynonymous SNV PLEKHM1:NM_014798:exon3:c.C113T:p.T38M
17 43555472 1 PLEKHM1 C T exonic synonymous SNV PLEKHM1:NM_014798:exon3:c.G90A:p.Q30Q
17 44144993 2 KANSL1 C G exonic nonsynonymous SNV KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P
17 44626660 2 LRRC37A2 C G exonic nonsynonymous SNV LRRC37A2:NM_001006607:exon9:c.C4155G:p.N1385K
17 45656826 1 NPEPPS A G exonic synonymous SNV NPEPPS:NM_006310:exon4:c.A489G:p.K163K,NPEPPS:NM_001330257:exon5:c.A477G:p.K159K
17 45786452 2 TBKBP1 C T exonic synonymous SNV TBKBP1:NM_014726:exon8:c.C1353T:p.H451H
17 45885687 2 OSBPL7 A G exonic synonymous SNV OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y RS9907142 LDL cholesterol:Advanced age-related macular degeneration (geographic atrophy)
17 45915788 2 SCRN2 T C exonic nonsynonymous SNV SCRN2:NM_001145023:exon7:c.A967G:p.M323V,SCRN2:NM_138355:exon7:c.A967G:p.M323V RS7350974 Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
17 47000251 2 UBE2Z C T exonic synonymous SNV UBE2Z:NM_023079:exon6:c.C846T:p.Y282Y RS1058018 Fat mass:HDL cholesterol:Gene expression of ATP5G1 in Frontal cortex:HDL cholesterol:Height:Waist hip ratio:Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education:College completion:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference:Gene expression change of ATP5G1 (ENSG00000159199) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in Alzheimer's disease cases and controls
17 47039132 2 GIP T C exonic nonsynonymous SNV GIP:NM_004123:exon4:c.A307G:p.S103G RS2291725 Gene expression of probe 1560577_at in lymphoblastoid cell lines:Gene expression of UBE2Z [probe 236107_at] in lymphoblastoid cell lines:Type 2 diabetes:HDL cholesterol:Differential exon level expression of UBE2Z [probe 3725496] in peripheral blood mononuclear cells:Gene expression of GIP in Fibroblasts:Barnes Akathisia Rating Scale:Tardive dyskinesia:Height:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of ATP5G1 in blood:Gene expression of UBE2Z in blood:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of UBE2Z in normal prepouch ileum:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in Alzheimer's disease cases:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in Alzheimer's disease cases and controls:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in non-Alzheimer's disease samples:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in non-Alzheimer's disease samples:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in Alzheimer's disease cases:Paternal transmission distortion:Infant head circumference:Gene expression of UBE2Z (probeID ILMN_1692168) in temporal cortex in Alzheimer's disease cases:College completion:Years of education:Gene expression of ATP5G1 (probeID ILMN_1712430) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ATP5G1 (probeID ILMN_1712430) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of UBE2Z (probeID ILMN_1692168) in cerebellum in Alzheimer's disease cases
17 47888852 2 KAT7 A G exonic synonymous SNV KAT7:NM_001199158:exon4:c.A261G:p.R87R,KAT7:NM_001199156:exon5:c.A351G:p.R117R,KAT7:NM_001199157:exon5:c.A438G:p.R146R,KAT7:NM_001199155:exon6:c.A678G:p.R226R,KAT7:NM_001346706:exon6:c.A528G:p.R176R,KAT7:NM_007067:exon7:c.A768G:p.R256R
17 48151353 1 ITGA3 T C exonic synonymous SNV ITGA3:NM_002204:exon8:c.T1230C:p.L410L RS2285524 LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP)
17 48265495 2 COL1A1 T C exonic nonsynonymous SNV COL1A1:NM_000088:exon44:c.A3223G:p.T1075A RS1800215 Height:Advanced age-related macular degeneration (geographic atrophy)
17 48268223 2 COL1A1 A G exonic synonymous SNV COL1A1:NM_000088:exon33:c.T2298C:p.T766T
17 48356260 2 TMEM92 G C exonic nonsynonymous SNV TMEM92:NM_153229:exon4:c.G269C:p.S90T,TMEM92:NM_001168215:exon5:c.G269C:p.S90T
17 48457722 1 EME1 G C exonic nonsynonymous SNV EME1:NM_001166131:exon8:c.G1435C:p.A479P,EME1:NM_152463:exon8:c.G1396C:p.A466P
17 48557326 1 RSAD1 G A exonic nonsynonymous SNV RSAD1:NM_018346:exon3:c.G355A:p.A119T RS2290862 HDL cholesterol:HOMA-B:Fasting insulin:Gene expression of CHAD in normal prepouch ileum:Stroke
17 48557348 1 RSAD1 T C exonic nonsynonymous SNV RSAD1:NM_018346:exon3:c.T377C:p.L126S RS2290861 Gene expression of probe 231550_at in lymphoblastoid cell lines:HOMA-B:Fasting insulin:HOMA-IR:Partial epilepsy:Gene expression of ACSF2 in blood:Gene expression of SPATA20 in blood:Gene expression of XYLT2 in blood:Gene expression of RSAD1 in blood:Gene expression of CHAD (probeID ILMN_1700652) in cerebellum in non-Alzheimer's disease samples:Gene expression of CHAD (probeID ILMN_1700652) in cerebellum in Alzheimer's disease cases:Gene expression of CHAD (probeID ILMN_1700652) in temporal cortex in Alzheimer's disease cases:Gene expression of CHAD (probeID ILMN_1700652) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CHAD (probeID ILMN_1700652) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CHAD (probeID ILMN_1700652) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CHAD (probeID ILMN_1700652) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CHAD in normal prepouch ileum
17 53076799 2 STXBP4 G A exonic nonsynonymous SNV STXBP4:NM_178509:exon5:c.G274A:p.G92R RS1156287 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Triglycerides change with statins:Breast cancer:Gene expression of TOM1L1 [probe ILMN_16672] in osteoblasts treated with dexamethasone:Gene expression of COX11///TOM1L1 in blood:Diastolic blood pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Gene expression of COX11 in normal prepouch ileum:Refractive error
17 53851228 2 PCTP C T exonic synonymous SNV PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I RS2960062 Neuroticism:Simpson-Angus Scale:Fasting blood glucose:HOMA-IR:Serum creatinine:Waist hip ratio:Microalbuminuria:Obesity with early age of onset (age >2)
17 54921494 2 DGKE A C exonic synonymous SNV DGKE:NM_003647:exon3:c.A579C:p.T193T RS3760158 LDL cholesterol:Height:PROP taste detection threshold:Refractive error:Birth weight
17 55027850 2 COIL T C exonic synonymous SNV COIL:NM_004645:exon2:c.A753G:p.E251E
17 55183203 2 AKAP1 T C exonic synonymous SNV AKAP1:NM_003488:exon2:c.T378C:p.D126D,AKAP1:NM_001242902:exon3:c.T378C:p.D126D,AKAP1:NM_001242903:exon3:c.T378C:p.D126D RS2230772 Triglycerides
17 58786625 2 BCAS3 A G exonic nonsynonymous SNV BCAS3:NM_001099432:exon5:c.A260G:p.N87S,BCAS3:NM_001320470:exon5:c.A260G:p.N87S,BCAS3:NM_001330413:exon5:c.A260G:p.N87S,BCAS3:NM_001330414:exon5:c.A260G:p.N87S,BCAS3:NM_017679:exon5:c.A260G:p.N87S
17 59485555 1 TBX2 C T exonic synonymous SNV TBX2:NM_005994:exon7:c.C1827T:p.S609S
17 59763465 2 BRIP1 T C exonic synonymous SNV BRIP1:NM_032043:exon19:c.A2637G:p.E879E RS4986765 Height:Neuroblastoma (brain cancer):Bipolar disorder
17 59955426 2 INTS2 T G exonic nonsynonymous SNV INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H
17 59969000 1 INTS2 T C exonic synonymous SNV INTS2:NM_001330417:exon14:c.A1749G:p.Q583Q,INTS2:NM_001351695:exon14:c.A1749G:p.Q583Q,INTS2:NM_020748:exon14:c.A1773G:p.Q591Q RS753765 Refractive error:Mitral annular calcium
17 60043884 2 MED13 G A exonic synonymous SNV MED13:NM_005121:exon19:c.C4320T:p.D1440D
17 60491144 2 EFCAB3 T C exonic nonsynonymous SNV EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L
17 60491184 2 EFCAB3 C T exonic nonsynonymous SNV EFCAB3:NM_173503:exon9:c.C959T:p.T320I,EFCAB3:NM_001144933:exon11:c.C1115T:p.T372I
17 60493420 2 EFCAB3 G A exonic synonymous SNV EFCAB3:NM_173503:exon10:c.G1047A:p.E349E,EFCAB3:NM_001144933:exon12:c.G1203A:p.E401E
17 60493465 2 EFCAB3 G A exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.G1092A:p.M364I,EFCAB3:NM_001144933:exon12:c.G1248A:p.M416I
17 60493481 2 EFCAB3 T G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.T1108G:p.S370A,EFCAB3:NM_001144933:exon12:c.T1264G:p.S422A
17 60493599 2 EFCAB3 C G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.C1226G:p.S409C,EFCAB3:NM_001144933:exon12:c.C1382G:p.S461C
17 60493634 2 EFCAB3 T G exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.T1261G:p.Y421D,EFCAB3:NM_001144933:exon12:c.T1417G:p.Y473D
17 60493662 2 EFCAB3 G A exonic nonsynonymous SNV EFCAB3:NM_173503:exon10:c.G1289A:p.R430Q,EFCAB3:NM_001144933:exon12:c.G1445A:p.R482Q
17 60601613 1 TLK2 C G exonic nonsynonymous SNV TLK2:NM_001284333:exon6:c.C284G:p.A95G,TLK2:NM_006852:exon6:c.C284G:p.A95G
17 60613663 1 TLK2 C T exonic stopgain TLK2:NM_001284363:exon5:c.C400T:p.Q134X,TLK2:NM_001284333:exon7:c.C496T:p.Q166X,TLK2:NM_001330418:exon7:c.C49T:p.Q17X,TLK2:NM_006852:exon7:c.C496T:p.Q166X
17 60613669 1 TLK2 G A exonic nonsynonymous SNV TLK2:NM_001284363:exon5:c.G406A:p.G136R,TLK2:NM_001284333:exon7:c.G502A:p.G168R,TLK2:NM_001330418:exon7:c.G55A:p.G19R,TLK2:NM_006852:exon7:c.G502A:p.G168R
17 60631078 1 TLK2 T C exonic synonymous SNV TLK2:NM_001284363:exon7:c.T586C:p.L196L,TLK2:NM_001284333:exon9:c.T682C:p.L228L,TLK2:NM_001330418:exon9:c.T235C:p.L79L,TLK2:NM_006852:exon9:c.T682C:p.L228L
17 60637441 1 TLK2 G A exonic nonsynonymous SNV TLK2:NM_001284363:exon8:c.G689A:p.R230Q,TLK2:NM_001284333:exon10:c.G785A:p.R262Q,TLK2:NM_001330418:exon10:c.G338A:p.R113Q,TLK2:NM_006852:exon10:c.G785A:p.R262Q
17 60683503 2 TLK2 A G exonic synonymous SNV TLK2:NM_001284363:exon18:c.A1776G:p.P592P,TLK2:NM_001330418:exon20:c.A1425G:p.P475P,TLK2:NM_006852:exon20:c.A1872G:p.P624P,TLK2:NM_001284333:exon21:c.A1938G:p.P646P RS8078132 LDL cholesterol change with statins:Total cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 60767015 2 MRC2 G A exonic nonsynonymous SNV MRC2:NM_006039:exon24:c.G3467A:p.R1156H RS2429387 HDL cholesterol change with statins:Obesity (body mass index (BMI)):Body mass index (BMI):Hypertension (early onset hypertension)
17 62121480 2 ERN1 T C exonic synonymous SNV ERN1:NM_001433:exon22:c.A2802G:p.T934T RS196912 Differential splicing of ERN1 [probeset 3766657] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Gene expression of NRM in peripheral blood monocytes:Autism:Waist hip ratio:Bipolar disorder
17 62125272 2 ERN1 A G exonic synonymous SNV ERN1:NM_001433:exon19:c.T2475C:p.H825H
17 62892246 1 LRRC37A3 G A exonic nonsynonymous SNV LRRC37A3:NM_199340:exon4:c.C1130T:p.P377L
17 63554591 1 AXIN2 G A exonic nonsynonymous SNV AXIN2:NM_004655:exon2:c.C148T:p.P50S RS2240308 Gene expression of AXIN2 [probe 222696_at] in lymphoblastoid cell lines:Hip bone mineral density (BMD):Triglycerides change with statins:HDL cholesterol:Gene expression of AXIN2 in blood
17 64783081 2 PRKCA G A exonic nonsynonymous SNV PRKCA:NM_002737:exon15:c.G1702A:p.V568I RS6504459 Fasting blood glucose:HDL cholesterol:Microalbuminuria:Infant head circumference
17 65104743 2 HELZ G A exonic nonsynonymous SNV HELZ:NM_001330447:exon30:c.C4592T:p.A1531V,HELZ:NM_014877:exon30:c.C4589T:p.A1530V RS11653020 HDL cholesterol:Barnes Akathisia Rating Scale:HOMA-B:Total cholesterol:HDL cholesterol:PROP taste detection threshold:College completion:Primary rhegmatogenous retinal detachment:Transmission distortion:Paternal transmission distortion
17 65821865 2 BPTF C A exonic nonsynonymous SNV BPTF:NM_004459:exon1:c.C25A:p.P9T,BPTF:NM_182641:exon1:c.C25A:p.P9T
17 65989048 2 C17orf58 T C exonic nonsynonymous SNV C17orf58:NM_181656:exon2:c.A215G:p.E72G
17 66533655 2 FAM20A A G exonic nonsynonymous SNV FAM20A:NM_017565:exon11:c.T1589C:p.L530S,FAM20A:NM_001243746:exon12:c.T1175C:p.L392S RS2907373 College completion:Gene expression of PRKAR1A (probeID ILMN_2277077) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2277077) in temporal cortex in Alzheimer's disease cases and controls:Years of education
17 66538239 1 FAM20A G T exonic nonsynonymous SNV FAM20A:NM_017565:exon7:c.C996A:p.N332K,FAM20A:NM_001243746:exon8:c.C582A:p.N194K RS2302234 Schizophrenia:Gene expression of PRKAR1A in Lymphoblastoid cell lines:Gene expression of PRKAR1A in T cells:Gene expression of PRKAR1A in Fibroblasts:Gene expression of FAM20A [probe ILMN_2389590] in peripheral leukocytes:PRKAR1A gene expression in HIV-infected CD4+ T cells:Gene expression of PRKAR1A in peripheral blood monocytes:Gene expression of CCDC21 in peripheral blood monocytes:Gene expression of CSK in peripheral blood monocytes:Partial epilepsy:Neuroblastoma (brain cancer):Sporadic Creutzfeldt-Jakob disease:Gene expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in Alzheimer's disease cases:Gene expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of PRKAR1A (probeID ILMN_2277077) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2277077) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex in non-Alzheimer's disease samples:Gene expression of PRKAR1A (probeID ILMN_2389590) in cerebellum in non-Alzheimer's disease samples:Gene expression of PRKAR1A (probeID ILMN_2277077) in cerebellum in Alzheimer's disease cases:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PRKAR1A (probeID ILMN_2389590) in temporal cortex in Alzheimer's disease cases:Gene expression of PRKAR1A (probeID ILMN_2277077) in temporal cortex in Alzheimer's disease cases
17 70943990 2 SLC39A11 T C exonic nonsynonymous SNV SLC39A11:NM_001159770:exon5:c.A331G:p.T111A,SLC39A11:NM_139177:exon5:c.A331G:p.T111A RS2466517 Asthma
17 71232687 1 C17orf80 T C exonic nonsynonymous SNV C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L,C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001351264:exon3:c.T1066C:p.F356L,C17orf80:NM_001351265:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L RS745143 Gene expression of COG1 in peripheral blood monocytes:Gene expression of C17ORF80 (probeID ILMN_1762071) in breast tumors:Gene expression of FAM104A in normal prepouch ileum
17 71232804 2 C17orf80 C A exonic nonsynonymous SNV C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_001288770:exon3:c.C1183A:p.H395N,C17orf80:NM_001288771:exon3:c.C1183A:p.H395N,C17orf80:NM_001351264:exon3:c.C1183A:p.H395N,C17orf80:NM_001351265:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N
17 71232807 1 C17orf80 T C exonic nonsynonymous SNV C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R,C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001351264:exon3:c.T1186C:p.C396R,C17orf80:NM_001351265:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R
17 71232881 1 C17orf80 G C exonic nonsynonymous SNV C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351264:exon3:c.G1260C:p.Q420H,C17orf80:NM_001351265:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H RS745142 Gene expression of FAM104A [transcript NM_032837, probe A_24_P91232] in liver:Infant head circumference
17 73230856 2 NUP85 C T exonic synonymous SNV NUP85:NM_001303276:exon16:c.C1602T:p.D534D,NUP85:NM_001330472:exon16:c.C1605T:p.D535D,NUP85:NM_024844:exon17:c.C1740T:p.D580D RS9988 HOMA-IR:Fasting insulin:Triglycerides:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Gene expression of NUP85 (probeID ILMN_1669635) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Infant head circumference:Gene expression of NUP85 (probeID ILMN_1669635) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NUP85 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of MRPS7 in normal prepouch ileum
17 73269676 2 SLC25A19 C T exonic synonymous SNV SLC25A19:NM_001126122:exon7:c.G819A:p.L273L,SLC25A19:NM_001126121:exon8:c.G819A:p.L273L,SLC25A19:NM_021734:exon8:c.G819A:p.L273L
17 73279624 2 SLC25A19 A G exonic synonymous SNV SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y
17 73498483 2 CASKIN2 T C exonic nonsynonymous SNV CASKIN2:NM_001142643:exon17:c.A2426G:p.E809G,CASKIN2:NM_020753:exon18:c.A2672G:p.E891G
17 73518284 2 TSEN54 G C exonic synonymous SNV TSEN54:NM_207346:exon8:c.G1122C:p.R374R RS6501820 Triglycerides:HDL cholesterol:Cystatin C in serum:Height:PROP taste detection threshold:Years of education
17 73552185 2 LLGL2 G A exonic nonsynonymous SNV LLGL2:NM_001015002:exon3:c.G134A:p.R45H,LLGL2:NM_001031803:exon3:c.G134A:p.R45H,LLGL2:NM_004524:exon3:c.G134A:p.R45H RS1671036 Neuroblastoma (brain cancer):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 73625478 2 RECQL5 T C exonic synonymous SNV RECQL5:NM_004259:exon16:c.A2025G:p.T675T
17 73627565 2 RECQL5 A G exonic synonymous SNV RECQL5:NM_004259:exon9:c.T1413C:p.Y471Y
17 74475024 2 RHBDF2 G A exonic nonsynonymous SNV RHBDF2:NM_001005498:exon5:c.C536T:p.P179L,RHBDF2:NM_024599:exon6:c.C623T:p.P208L
17 74475975 2 RHBDF2 C A exonic nonsynonymous SNV RHBDF2:NM_024599:exon4:c.G199T:p.A67S
17 74732507 2 SRSF2 A G exonic synonymous SNV SRSF2:NM_001195427:exon2:c.T402C:p.S134S,SRSF2:NM_003016:exon2:c.T402C:p.S134S
17 74733099 2 SRSF2 G A exonic synonymous SNV SRSF2:NM_001195427:exon1:c.C144T:p.D48D,SRSF2:NM_003016:exon1:c.C144T:p.D48D RS237057 Gene expression of MXRA7 in normal prepouch ileum
17 75190846 2 SEC14L1 A C exonic nonsynonymous SNV SEC14L1:NM_001144001:exon5:c.A460C:p.T154P,SEC14L1:NM_001039573:exon7:c.A562C:p.T188P,SEC14L1:NM_001143998:exon7:c.A562C:p.T188P,SEC14L1:NM_001143999:exon7:c.A562C:p.T188P,SEC14L1:NM_003003:exon7:c.A562C:p.T188P,SEC14L1:NM_001204410:exon8:c.A562C:p.T188P,SEC14L1:NM_001204408:exon9:c.A562C:p.T188P
17 76219591 2 BIRC5 G A exonic nonsynonymous SNV BIRC5:NM_001168:exon4:c.G385A:p.E129K,BIRC5:NM_001012271:exon5:c.G454A:p.E152K RS2071214 LDL cholesterol:Premature ovarian failure:Alcohol dependence symptoms:Years of education:College completion:Mitral annular calcium
17 76482432 2 DNAH17 A G exonic synonymous SNV DNAH17:NM_173628:exon45:c.T6975C:p.I2325I
17 76970879 2 LGALS3BP A G exonic synonymous SNV LGALS3BP:NM_005567:exon4:c.T267C:p.D89D
17 78013724 2 CCDC40 G C exonic synonymous SNV CCDC40:NM_001243342:exon3:c.G207C:p.V69V,CCDC40:NM_001330508:exon3:c.G207C:p.V69V,CCDC40:NM_017950:exon3:c.G207C:p.V69V RS2289527 Chronic kidney disease:LDL cholesterol
17 78078709 1 GAA T C exonic synonymous SNV GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C RS1800300 LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of GAA in normal prepouch ileum
17 78091405 1 GAA G A exonic nonsynonymous SNV GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I RS1126690 Gene expression of GAA in normal prepouch ileum
17 78184393 1 SGSH C T exonic nonsynonymous SNV SGSH:NM_000199:exon8:c.G1367A:p.R456H RS7503034 Schizophrenia:Differential exon level expression of GAA [probe 3737163] in brain cortex:Gene expression of SGSH in peripheral blood monocytes:SGSH gene expression:Gene expression of CARD14///SGSH in blood:Gene expression of SGSH in normal prepouch ileum
17 78298938 2 RNF213 A G exonic nonsynonymous SNV RNF213:NM_001256071:exon18:c.A3133G:p.N1045D
17 78354661 1 RNF213 C T exonic synonymous SNV RNF213:NM_001256071:exon56:c.C13671T:p.H4557H RS4889848 Gene expression of GTF2A1 in peripheral blood monocytes:Gene expression of RNF213 in peripheral blood monocytes:Autism:Autism with low IQ:Moyamoya disease:Comorbid depressive syndrome and alcohol dependence:Gene expression of RNF213 (probeID ILMN_1749722) in breast tumors:Gene expression of RNF213 (probeID ILMN_1749722) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RNF213 (probeID ILMN_1749722) in cerebellum in Alzheimer's disease cases and controls
17 78820329 1 RPTOR C T exonic synonymous SNV RPTOR:NM_001163034:exon11:c.C1269T:p.G423G,RPTOR:NM_020761:exon11:c.C1269T:p.G423G RS3751945 2 hour glucose:College completion:Years of education:Birth weight
17 79171967 2 CEP131 A G exonic nonsynonymous SNV CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A
17 79173224 1 CEP131 T C exonic synonymous SNV CEP131:NM_001009811:exon10:c.A1149G:p.T383T,CEP131:NM_001319228:exon10:c.A1149G:p.T383T,CEP131:NM_001319229:exon10:c.A1149G:p.T383T,CEP131:NM_014984:exon10:c.A1149G:p.T383T
17 79174221 2 CEP131 T C exonic nonsynonymous SNV CEP131:NM_001009811:exon8:c.A814G:p.T272A,CEP131:NM_001319228:exon8:c.A814G:p.T272A,CEP131:NM_001319229:exon8:c.A814G:p.T272A,CEP131:NM_014984:exon8:c.A814G:p.T272A RS2466773 HDL cholesterol:LDL cholesterol:2 hour glucose:LDL cholesterol:Infant head circumference
17 79424516 2 BAHCC1 A G exonic unknown UNKNOWN
17 79508400 2 FAAP100 T C exonic nonsynonymous SNV FAAP100:NM_025161:exon8:c.A2449G:p.T817A RS14422 Salmonella-induced pyroptosis
17 79589242 2 NPLOC4 G A exonic synonymous SNV NPLOC4:NM_017921:exon3:c.C159T:p.T53T RS6565604 Gene expression of LOC339229 in CHB lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT lymphoblastoid cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Fasting insulin:LDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Gene expression change of MRPL12 (ENSG00000183048) in dendritic cells after treatment with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
17 79596811 2 NPLOC4 C T exonic synonymous SNV NPLOC4:NM_017921:exon2:c.G36A:p.P12P RS9894429 Gene expression of LOC339229 in CHB lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT lymphoblastoid cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Hip bone mineral density (BMD):Irritible bowel syndrome:LDL cholesterol:Differential exon level expression of NPLOC4 [probe 3774090] in peripheral blood mononuclear cells:Differential exon level expression of NPLOC4 [probe 3774090] in brain cortex:Gene expression of TSPAN10 [probe ILMN_12531] in osteoblasts:Fasting insulin:LDL cholesterol change with statins:Eye color - Hue-Saturation 1st principal component:Eye color:Eye color (3 category color classification):Eye color (CHS1):Eye color (5 category color classification):Eye color (saturation):Eye color (hue):Urinary albumin-to-creatinine ratio:Gene expression of C17orf90 in blood:Gene expression of PDE6G (probeID ILMN_1718299) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSPAN10 (probeID ILMN_1656194) in temporal cortex in non-Alzheimer's disease samples:Gene expression of TSPAN10 (probeID ILMN_1656194) in cerebellum in non-Alzheimer's disease samples:Gene expression of PDE6G (probeID ILMN_1718299) in temporal cortex in non-Alzheimer's disease samples:Gene expression of TSPAN10 (probeID ILMN_1656194) in temporal cortex in Alzheimer's disease cases:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of TSPAN10 (probeID ILMN_1656194) in cerebellum in Alzheimer's disease cases:Primary rhegmatogenous retinal detachment:Gene expression of TSPAN10 (probeID ILMN_1656194) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSPAN10 (probeID ILMN_1656194) in cerebellum in Alzheimer's disease cases and controls
17 79609410 2 TSPAN10 G T exonic unknown UNKNOWN
17 79612161 2 TSPAN10 C T exonic unknown UNKNOWN RS6565616 Gene expression of LOC339229 in CHB lymphoblastoid cell lines:Gene expression of OCSP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of NPL4 in CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Moyamoya disease:Primary rhegmatogenous retinal detachment:Gene expression of GPS1 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 79612382 2 TSPAN10 T C exonic unknown UNKNOWN
17 79612443 2 TSPAN10 T C exonic unknown UNKNOWN
17 79615225 2 TSPAN10 G T exonic unknown UNKNOWN
17 79637349 2 CCDC137 T C exonic synonymous SNV CCDC137:NM_199287:exon3:c.T363C:p.S121S
17 79872241 2 SIRT7 A G exonic synonymous SNV SIRT7:NM_016538:exon7:c.T745C:p.L249L
17 79891147 2 PYCR1 T C exonic synonymous SNV PYCR1:NM_001282279:exon7:c.A810G:p.S270S,PYCR1:NM_006907:exon7:c.A903G:p.S301S,PYCR1:NM_001282280:exon8:c.A903G:p.S301S,PYCR1:NM_001282281:exon8:c.A984G:p.S328S
17 80045086 1 FASN G C exonic synonymous SNV FASN:NM_004104:exon21:c.C3267G:p.A1089A RS4485435 Total cholesterol:LDL cholesterol:Chronic kidney disease
17 80151881 2 CCDC57 G A exonic synonymous SNV CCDC57:NM_198082:exon5:c.C753T:p.D251D,CCDC57:NM_001316321:exon6:c.C753T:p.D251D
17 80195582 2 SLC16A3 T C exonic synonymous SNV SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G
17 80350331 1 OGFOD3 G A exonic synonymous SNV OGFOD3:NM_024648:exon9:c.C903T:p.I301I RS11903 Alzheimer's disease:Chronic kidney disease:Urinary albumin-to-creatinine ratio:Gene expression of CSNK1D in blood:Gene expression of [probe 2480026 centered at chr17:77940544] in blood:Gene expression of HEXDC in blood:Comorbid depressive syndrome and alcohol dependence:Years of education
17 80674643 2 FN3KRP C G exonic synonymous SNV FN3KRP:NM_024619:exon1:c.C12G:p.L4L
17 80696410 2 FN3K A C exonic synonymous SNV FN3K:NM_022158:exon2:c.A187C:p.R63R
17 80895933 2 TBCD A G exonic nonsynonymous SNV TBCD:NM_005993:exon36:c.A3290G:p.E1097G RS3785522 Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 133943277 1
18 252559 2 THOC1 G A exonic synonymous SNV THOC1:NM_005131:exon9:c.C657T:p.D219D
18 724612 2 YES1 A G exonic synonymous SNV YES1:NM_005433:exon12:c.T1444C:p.L482L
18 2539016 2 METTL4 C G exonic nonsynonymous SNV METTL4:NM_022840:exon9:c.G1402C:p.V468L
18 2616457 1 NDC80 G C exonic nonsynonymous SNV NDC80:NM_006101:exon17:c.G1813C:p.A605P RS9051 Serum creatinine:Maternal transmission distortion
18 3188976 1 MYOM1 A G exonic nonsynonymous SNV MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P RS1962519 Eye color:Stabilized warfarin dose:Lp-PLA2 mass:Comorbid depressive syndrome and alcohol dependence:Parkinson's disease
18 5292030 2 ZBTB14 A G exonic synonymous SNV ZBTB14:NM_003409:exon3:c.T177C:p.T59T,ZBTB14:NM_001143823:exon4:c.T177C:p.T59T,ZBTB14:NM_001243702:exon4:c.T177C:p.T59T,ZBTB14:NM_001243704:exon4:c.T177C:p.T59T RS620652 Irritible bowel syndrome:HDL cholesterol:Schizophrenia:Partial epilepsy:HDL cholesterol:PROP taste detection threshold:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot
18 8387195 2 PTPRM G A exonic synonymous SNV PTPRM:NM_002845:exon29:c.G4131A:p.E1377E,PTPRM:NM_001105244:exon31:c.G4170A:p.E1390E RS593978 Triglycerides:Fasting blood glucose:Rheumatoid arthritis
18 8387219 2 PTPRM G C exonic synonymous SNV PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T RS593950 Triglycerides:Fasting blood glucose:Rheumatoid arthritis
18 8784370 2 MTCL1 A G exonic synonymous SNV MTCL1:NM_015210:exon6:c.A1260G:p.E420E
18 8826083 2 MTCL1 G C exonic synonymous SNV MTCL1:NM_015210:exon15:c.G4575C:p.T1525T RS3744977 Gene expression of LIPE in peripheral blood monocytes
18 10758023 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N RS7407105 Salmonella-induced pyroptosis
18 10762962 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon20:c.C3006T:p.L1002L RS7241380 Hypertension, gender differentiated:Irritible bowel syndrome:Salmonella-induced pyroptosis
18 10763007 2 PIEZO2 T C exonic synonymous SNV PIEZO2:NM_022068:exon20:c.A2961G:p.T987T RS7227167 Irritible bowel syndrome:Salmonella-induced pyroptosis
18 10787047 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon16:c.C2305T:p.L769L
18 12984144 2 SEH1L C A exonic nonsynonymous SNV SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N RS6505776 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of SEH1L in blood:Gene expression of CEP192 [probeset 218827_s_at] in sputum:Hypertension (early onset hypertension):Refractive error:Gene expression of CEP192 in normal prepouch ileum:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:College completion
18 13068132 2 CEP192 T C exonic nonsynonymous SNV CEP192:NM_032142:exon23:c.T4654C:p.S1552P RS578208 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CEP192 in normal prepouch ileum:Years of education:Refractive error:College completion:Infant head circumference:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls
18 13069782 2 CEP192 C T exonic nonsynonymous SNV CEP192:NM_032142:exon27:c.C5101T:p.L1701F RS6505780 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Alzheimer's disease:Gene expression of CEP192 in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in peripheral blood monocytes:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Years of education:College completion:Hypertension (early onset hypertension):Gene expression of CEP192 in normal prepouch ileum:Infant head circumference
18 13095609 2 CEP192 T C exonic nonsynonymous SNV CEP192:NM_032142:exon35:c.T6362C:p.L2121P RS474337 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Gene expression of CEP192 in Caudal pons:Gene expression of CEP192 in Temporal cortex:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:College completion:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of CEP192 in normal prepouch ileum:Years of education:Primary rhegmatogenous retinal detachment:Hypertension (early onset hypertension)
18 13116432 2 CEP192 G T exonic nonsynonymous SNV CEP192:NM_032142:exon43:c.G7346T:p.R2449L RS1786263 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probeset 3779866] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probeset 3779862] in peripheral blood mononuclear cells:Fasting blood glucose:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Years of education:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Refractive error:College completion:Primary rhegmatogenous retinal detachment:Infant head circumference:Gene expression of CEP192 in normal prepouch ileum:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Aortic valve calcium
18 19079853 2 GREB1L A G exonic synonymous SNV GREB1L:NM_001142966:exon22:c.A3555G:p.E1185E
18 19153494 2 ESCO1 C T exonic synonymous SNV ESCO1:NM_052911:exon4:c.G1311A:p.T437T RS973730 Fasting blood glucose:Advanced age-related macular degeneration (geographic atrophy):Maternal transmission distortion:Transmission distortion:Infant head circumference
18 19154143 1 ESCO1 G A exonic nonsynonymous SNV ESCO1:NM_052911:exon4:c.C662T:p.T221M RS13381941 HOMA-IR:Serum creatinine
18 21109250 2 C18orf8 T C exonic synonymous SNV C18orf8:NM_001318707:exon12:c.T933C:p.F311F,C18orf8:NM_001276342:exon13:c.T1260C:p.F420F,C18orf8:NM_001318709:exon13:c.T1260C:p.F420F,C18orf8:NM_001318708:exon14:c.T933C:p.F311F,C18orf8:NM_013326:exon15:c.T1404C:p.F468F RS1788825 HOMA-IR:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of education:College completion:Obesity with early age of onset (age >2)
18 21124945 2 NPC1 C G exonic nonsynonymous SNV NPC1:NM_000271:exon12:c.G1926C:p.M642I RS1788799 HOMA-IR:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):College completion:Years of education
18 21511089 2 LAMA3 A G exonic nonsynonymous SNV LAMA3:NM_001127718:exon27:c.A3505G:p.S1169G,LAMA3:NM_000227:exon28:c.A3673G:p.S1225G,LAMA3:NM_001127717:exon64:c.A8332G:p.S2778G,LAMA3:NM_198129:exon65:c.A8500G:p.S2834G
18 21710321 2 TTC39C C T exonic synonymous SNV TTC39C:NM_001292030:exon7:c.C642T:p.N214N,TTC39C:NM_001135993:exon12:c.C1563T:p.N521N,TTC39C:NM_153211:exon12:c.C1380T:p.N460N
18 22020543 2 IMPACT C G exonic nonsynonymous SNV IMPACT:NM_018439:exon6:c.C451G:p.L151V RS677688 Cystatin C in serum:Salmonella-induced pyroptosis
18 23873463 2 TAF4B T C exonic synonymous SNV TAF4B:NM_001293725:exon9:c.T1815C:p.N605N,TAF4B:NM_005640:exon9:c.T1800C:p.N600N RS1677016 Total cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
18 25565082 2 CDH2 A G exonic synonymous SNV CDH2:NM_001308176:exon12:c.T1998C:p.R666R,CDH2:NM_001792:exon13:c.T2091C:p.R697R RS1220144 Salmonella-induced pyroptosis
18 25570228 2 CDH2 G C exonic synonymous SNV CDH2:NM_001308176:exon9:c.C1338G:p.P446P,CDH2:NM_001792:exon10:c.C1431G:p.P477P
18 29104698 1 DSG2 C T exonic synonymous SNV DSG2:NM_001943:exon8:c.C861T:p.N287N RS2230233 HDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
18 29126670 1 DSG2 T C exonic synonymous SNV DSG2:NM_001943:exon15:c.T3321C:p.V1107V RS1791235 HDL cholesterol:Asthma:Comorbid depressive syndrome and alcohol dependence:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Salmonella-induced pyroptosis:Refractive error
18 29497573 2 TRAPPC8 A G exonic nonsynonymous SNV TRAPPC8:NM_014939:exon3:c.T410C:p.L137S
18 32917644 1 ZNF24 T C exonic nonsynonymous SNV ZNF24:NM_006965:exon4:c.A659G:p.N220S RS2032729 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Total cholesterol:Gene expression of MAPRE2 in blood:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy)
18 33647254 2 RPRD1A A C exonic synonymous SNV RPRD1A:NM_001303413:exon1:c.T114G:p.R38R,RPRD1A:NM_018170:exon1:c.T114G:p.R38R
18 33706614 2 SLC39A6 C G exonic nonsynonymous SNV SLC39A6:NM_012319:exon2:c.G357C:p.E119D
18 33779821 2 MOCOS C A exonic synonymous SNV MOCOS:NM_017947:exon4:c.C475A:p.R159R
18 33779855 2 MOCOS C T exonic nonsynonymous SNV MOCOS:NM_017947:exon4:c.C509T:p.T170I RS623053 LDL cholesterol:Major depressive disorder (narrow definition) (males):Major depressive disorder (narrow definition):Partial epilepsy:Adiponectin levels
18 33779896 2 MOCOS A G exonic nonsynonymous SNV MOCOS:NM_017947:exon4:c.A550G:p.S184G
18 33780020 2 MOCOS A G exonic nonsynonymous SNV MOCOS:NM_017947:exon4:c.A674G:p.H225R
18 33785093 2 MOCOS G A exonic nonsynonymous SNV MOCOS:NM_017947:exon6:c.G1072A:p.V358M RS678560 LDL cholesterol:Major depressive disorder (narrow definition) (males):Major depressive disorder (narrow definition):Adiponectin levels:Mitral annular calcium
18 33785185 2 MOCOS A G exonic synonymous SNV MOCOS:NM_017947:exon6:c.A1164G:p.P388P
18 33831189 1 MOCOS C A exonic nonsynonymous SNV MOCOS:NM_017947:exon11:c.C2107A:p.H703N RS594445 HDL cholesterol:Alzheimer's disease:Fasting blood glucose:HDL cholesterol change with statins:Waist hip ratio:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Parkinson's disease
18 43481075 1 EPG5 G A exonic nonsynonymous SNV EPG5:NM_020964:exon26:c.C4532T:p.A1511V RS1893523 Eye color:Gene expression of SIGLEC15 [probe 3786920] in brain cortex:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of ATP5A1 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of education:Primary rhegmatogenous retinal detachment:Acute lung injury following major trauma:Adiponectin levels
18 43490602 1 EPG5 G A exonic synonymous SNV EPG5:NM_020964:exon23:c.C4089T:p.H1363H RS3744996 Eye color:Body mass index (BMI):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of education:Adiponectin levels:Acute lung injury following major trauma
18 43497710 1 EPG5 A G exonic nonsynonymous SNV EPG5:NM_020964:exon17:c.T3173C:p.V1058A RS3744998 Hip bone mineral density (BMD):Eye color:Systolic blood pressure (SBP):Years of education:College completion:Primary rhegmatogenous retinal detachment
18 46284587 1 CTIF T C exonic synonymous SNV CTIF:NM_014772:exon8:c.T882C:p.L294L,CTIF:NM_001142397:exon9:c.T882C:p.L294L
18 47429022 1 MYO5B C T exonic nonsynonymous SNV MYO5B:NM_001080467:exon21:c.G2753A:p.R918H RS2298624 HDL cholesterol:Childhood acute lymphoblastic leukemia:Gene expression of hCG_2 [probe 200038_s_at] in prefrontal cortex:Lp-PLA2 activity:Total cholesterol:HDL cholesterol:Acute lung injury following major trauma
18 47563299 2 MYO5B T C exonic nonsynonymous SNV MYO5B:NM_001080467:exon4:c.A376G:p.T126A
18 48723217 2 MEX3C C T exonic synonymous SNV MEX3C:NM_016626:exon1:c.G474A:p.P158P
18 54339818 2 WDR7 C G exonic synonymous SNV WDR7:NM_015285:exon2:c.C72G:p.A24A,WDR7:NM_052834:exon2:c.C72G:p.A24A
18 55317676 2 ATP8B1 C T exonic nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T
18 55362532 2 ATP8B1 T G exonic synonymous SNV ATP8B1:NM_005603:exon10:c.A811C:p.R271R
18 56149099 2 ALPK2 T C exonic nonsynonymous SNV ALPK2:NM_052947:exon13:c.A6469G:p.I2157V RS7240666 Alcohol dependence:Cystatin C in serum:HDL cholesterol:Coronary artery disease (CAD)
18 56196451 1 ALPK2 C T exonic synonymous SNV ALPK2:NM_052947:exon6:c.G5373A:p.K1791K RS7236563 Comorbid depressive syndrome and alcohol dependence
18 56202418 2 ALPK2 T C exonic synonymous SNV ALPK2:NM_052947:exon5:c.A5001G:p.K1667K
18 56202768 1 ALPK2 C A exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.G4651T:p.A1551S RS3809983 Celiac disease:Celiac disease:Barnes Akathisia Rating Scale:Celiac disease:LDL cholesterol change with statins:Height:Comorbid depressive syndrome and alcohol dependence
18 56203074 1 ALPK2 G A exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.C4345T:p.P1449S RS3809982 Celiac disease:Celiac disease:Irritible bowel syndrome:Celiac disease:LDL cholesterol change with statins:Height:Comorbid depressive syndrome and alcohol dependence
18 56203120 1 ALPK2 C T exonic synonymous SNV ALPK2:NM_052947:exon5:c.G4299A:p.G1433G RS3809981 LDL cholesterol change with statins:Height:Comorbid depressive syndrome and alcohol dependence
18 56204671 1 ALPK2 A T exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.T2748A:p.N916K RS4940404 Height
18 56204932 1 ALPK2 T G exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.A2487C:p.K829N RS3809973 Crohn's disease:Celiac disease:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Celiac disease:Height:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure
18 56204945 1 ALPK2 C G exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2474C:p.R825T RS3809972 Barnes Akathisia Rating Scale:Height
18 56204977 1 ALPK2 C T exonic synonymous SNV ALPK2:NM_052947:exon5:c.G2442A:p.T814T RS3809971 Height:Comorbid depressive syndrome and alcohol dependence
18 56204991 1 ALPK2 C T exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2428A:p.G810S RS3809970 Celiac disease:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Celiac disease:Height:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure
18 56205262 1 ALPK2 A C exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.T2157G:p.H719Q RS12103986 Celiac disease:Celiac disease:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Celiac disease:Height:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure:Gene expression of ALPK2 (ENSG00000198796) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of ALPK2 (ENSG00000198796) in dendritic cells after treatment with Mycobacterium tuberculosis
18 59814268 2 PIGN G A exonic synonymous SNV PIGN:NM_012327:exon8:c.C741T:p.H247H,PIGN:NM_176787:exon9:c.C741T:p.H247H
18 60036083 2 TNFRSF11A A G exonic synonymous SNV TNFRSF11A:NM_001278268:exon9:c.A891G:p.T297T,TNFRSF11A:NM_003839:exon9:c.A933G:p.T311T RS8092336 HDL cholesterol:Triglycerides change with statins:HDL cholesterol change with statins:Coronary artery disease (CAD)
18 60237388 2 ZCCHC2 A G exonic synonymous SNV ZCCHC2:NM_017742:exon12:c.A1899G:p.S633S RS8096750 LDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:Late onset Alzheimer's disease
18 67718688 2 RTTN A G exonic nonsynonymous SNV RTTN:NM_001318520:exon38:c.T2546C:p.F849S,RTTN:NM_173630:exon39:c.T5282C:p.F1761S RS4891392 Comorbid depressive syndrome and alcohol dependence
18 72343008 2 ZNF407 T C exonic synonymous SNV ZNF407:NM_001146189:exon1:c.T33C:p.D11D,ZNF407:NM_001146190:exon1:c.T33C:p.D11D,ZNF407:NM_017757:exon1:c.T33C:p.D11D
18 73641569 2
18 77513721 2 CTDP1 T C exonic synonymous SNV CTDP1:NM_001202504:exon13:c.T2460C:p.D820D,CTDP1:NM_004715:exon13:c.T2817C:p.D939D
18 77728135 2 HSBP1L1 G T exonic nonsynonymous SNV HSBP1L1:NM_001136180:exon3:c.G165T:p.K55N RS2298645 Triglycerides:Total cholesterol:Serum creatinine:Total cholesterol:College completion:Years of education
18 77894844 1 ADNP2 G A exonic synonymous SNV ADNP2:NM_014913:exon4:c.G1548A:p.P516P RS3744877 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
19 605171 2 HCN2 T C exonic synonymous SNV HCN2:NM_001194:exon3:c.T1167C:p.P389P
19 965043 2 ARID3A T C exonic synonymous SNV ARID3A:NM_005224:exon6:c.T1161C:p.N387N
19 990281 2 WDR18 G A exonic nonsynonymous SNV WDR18:NM_024100:exon4:c.G514A:p.A172T RS2158367 LDL cholesterol:Total cholesterol:Cystatin C in serum:Triglycerides:Age at menarche
19 1094004 2 POLR2E G A exonic nonsynonymous SNV POLR2E:NM_002695:exon2:c.C131T:p.S44F
19 1106615 2 GPX4 T C exonic unknown UNKNOWN RS713041 HDL cholesterol:HDL cholesterol:Height:College completion:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of SBNO2 (ENSG00000064932) in dendritic cells
19 1256998 2 MIDN C T exonic synonymous SNV MIDN:NM_177401:exon8:c.C1134T:p.D378D
19 1357082 2 MUM1 T C exonic synonymous SNV MUM1:NM_032853:exon3:c.T135C:p.S45S RS713042 Gene expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell lines:Gene expression of probe 230461_s_at in lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal prepouch ileum:Hypertension (early onset hypertension)
19 2853566 2 ZNF555 A G exonic synonymous SNV ZNF555:NM_001172775:exon4:c.A1500G:p.R500R,ZNF555:NM_152791:exon4:c.A1503G:p.R501R RS10412087 Methylation levels at chr19:2818753-2818803 [hg18 coord, probe cg19636861] in Caudal pons:Methylation levels at chr19:2818753-2818803 [hg18 coord, probe cg19636861] in Temporal cortex:Gene expression change of SGTA (ENSG00000104969) in dendritic cells after treatment with Mycobacterium tuberculosis
19 3186085 2 NCLN G T exonic synonymous SNV NCLN:NM_001321463:exon1:c.G57T:p.P19P,NCLN:NM_020170:exon1:c.G57T:p.P19P RS11551095 Cystatin C in serum
19 3977486 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon13:c.T2190C:p.Y730Y RS36527 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 3979408 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon11:c.T1632C:p.H544H RS36526 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 4033462 2 PIAS4 T C exonic synonymous SNV PIAS4:NM_015897:exon9:c.T1026C:p.C342C
19 4357555 2 MPND A G exonic synonymous SNV MPND:NM_001159846:exon8:c.A1059G:p.S353S,MPND:NM_001300862:exon10:c.A1209G:p.S403S,MPND:NM_032868:exon10:c.A1209G:p.S403S RS4807583 Parkinson's disease
19 4538599 1 LRG1 G A exonic nonsynonymous SNV LRG1:NM_052972:exon2:c.C397T:p.P133S RS966384 Spine bone mineral density (BMD):Gene expression of NM_032631 in liver:Arthritis including non-Rheumatoid:PROP taste detection threshold:Salmonella-induced pyroptosis
19 4816719 2 TICAM1 G A exonic synonymous SNV TICAM1:NM_182919:exon2:c.C1671T:p.D557D RS2292151 HDL cholesterol:Fasting insulin:HOMA-IR:HOMA-B:Height:PROP taste detection threshold:Gene expression of DPP9 (ENSG00000142002) in dendritic cells
19 4818378 2 TICAM1 T C exonic synonymous SNV TICAM1:NM_182919:exon2:c.A12G:p.T4T RS7255265 HOMA-IR:HOMA-B:Fasting insulin:Rheumatoid arthritis
19 4847713 2 PLIN3 A G exonic nonsynonymous SNV PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A,PLIN3:NM_005817:exon6:c.T824C:p.V275A RS9973235 Birth weight:Gene expression of FEM1A (ENSG00000141965) in dendritic cells treated with Mycobacterium tuberculosis:Transmission distortion
19 4847874 2 PLIN3 A G exonic synonymous SNV PLIN3:NM_001164189:exon6:c.T663C:p.F221F,PLIN3:NM_001164194:exon6:c.T627C:p.F209F,PLIN3:NM_005817:exon6:c.T663C:p.F221F RS9304915 Gene expression change of UHRF1 (ENSG00000034063) in dendritic cells after treatment with Mycobacterium tuberculosis
19 4852106 2 PLIN3 A G exonic synonymous SNV PLIN3:NM_001164189:exon5:c.T556C:p.L186L,PLIN3:NM_001164194:exon5:c.T520C:p.L174L,PLIN3:NM_005817:exon5:c.T556C:p.L186L RS2271058 PROP taste detection threshold:Paternal transmission distortion:Transmission distortion:Birth weight
19 4859937 2 PLIN3 T C exonic nonsynonymous SNV PLIN3:NM_001164189:exon3:c.A166G:p.I56V,PLIN3:NM_001164194:exon3:c.A166G:p.I56V,PLIN3:NM_005817:exon3:c.A166G:p.I56V RS8289 Fasting insulin:HOMA-IR:Gene expression of M6PRBP1 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Transmission distortion:Salmonella-induced pyroptosis
19 4945914 2 UHRF1 A C exonic unknown UNKNOWN
19 4945917 2 UHRF1 C T exonic unknown UNKNOWN
19 5135392 2 KDM4B A G exonic nonsynonymous SNV KDM4B:NM_015015:exon15:c.A2128G:p.K710E
19 5214697 2 PTPRS A G exonic nonsynonymous SNV PTPRS:NM_130853:exon20:c.T3028C:p.C1010R,PTPRS:NM_130855:exon21:c.T3040C:p.C1014R,PTPRS:NM_130854:exon24:c.T4255C:p.C1419R,PTPRS:NM_002850:exon29:c.T4369C:p.C1457R
19 6415443 2 KHSRP T C exonic synonymous SNV KHSRP:NM_003685:exon18:c.A1914G:p.A638A
19 6495736 2 TUBB4A A G exonic synonymous SNV TUBB4A:NM_001289130:exon4:c.T558C:p.V186V,TUBB4A:NM_001289131:exon4:c.T558C:p.V186V,TUBB4A:NM_006087:exon4:c.T774C:p.V258V,TUBB4A:NM_001289123:exon5:c.T927C:p.V309V,TUBB4A:NM_001289127:exon5:c.T909C:p.V303V,TUBB4A:NM_001289129:exon5:c.T774C:p.V258V RS2071347 Cystatin C in serum:Transmission distortion:Salmonella-induced pyroptosis:Parkinson's disease
19 6697406 2 C3 A G exonic synonymous SNV C3:NM_000064:exon21:c.T2745C:p.A915A RS423490 Schizophrenia:2 hour glucose:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (geographic atrophy)
19 6702157 2 C3 C G exonic synonymous SNV C3:NM_000064:exon19:c.G2421C:p.V807V RS428453 2 hour glucose:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
19 6731057 2 GPR108 T C exonic synonymous SNV GPR108:NM_001080452:exon17:c.A1500G:p.G500G
19 6737509 2 GPR108 G A exonic synonymous SNV GPR108:NM_001080452:exon1:c.C79T:p.L27L
19 7528734 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R RS2287918 HOMA-IR:Cystatin C in serum:HDL cholesterol:Diastolic blood pressure (DBP)
19 7533850 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S
19 7928462 2 EVI5L T C exonic synonymous SNV EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y
19 7963914 2 LRRC8E A C exonic synonymous SNV LRRC8E:NM_001268285:exon2:c.A120C:p.V40V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268284:exon4:c.A507C:p.V169V
19 8551094 2 HNRNPM T C exonic synonymous SNV HNRNPM:NM_001297418:exon12:c.T1377C:p.P459P,HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P
19 8553630 2 HNRNPM C T exonic synonymous SNV HNRNPM:NM_001297418:exon14:c.C1680T:p.G560G,HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G RS6992 LDL cholesterol:LDL cholesterol
19 10265312 2 DNMT1 T C exonic synonymous SNV DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T RS721186 Total cholesterol
19 11233941 2 LDLR A G exonic synonymous SNV LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R,LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R RS5927 LDL cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:Microalbuminuria:Bipolar disorder:College completion
19 11943697 2 ZNF440 G A exonic nonsynonymous SNV ZNF440:NM_152357:exon4:c.G1706A:p.S569N RS400106 Differential exon level expression of ZNF440 [probe 3821417] in peripheral blood mononuclear cells:Triglycerides change with statins:Suicide attempts in bipolar disorder:Systolic blood pressure (SBP):Adiponectin levels:Amyotrophic lateral sclerosis (ALS)
19 13010520 2 GCDH A G exonic nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R RS8012 Rheumatoid arthritis:Gene expression of GCDH in blood cells in Celiac disease:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with dexamethasone:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with PGE2:Gene expression of MAST1 [transcript NM_014975, probe A_23_P101480] in liver:Gene expression of MAST1///DNASE2 in blood:Gene expression of PRDX2 in blood:Gene expression of GCDH in blood:Resistance to kuru in aged women despite likely exposure:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases
19 14561722 2 PKN1 A G exonic synonymous SNV PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L RS8107892 HDL cholesterol change with statins:Triglycerides
19 15508362 2 AKAP8L G C exonic nonsynonymous SNV AKAP8L:NM_001291478:exon11:c.C1191G:p.H397Q,AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q
19 15763721 2 CYP4F3 G A exonic synonymous SNV CYP4F3:NM_000896:exon9:c.G1074A:p.V358V,CYP4F3:NM_001199208:exon9:c.G1074A:p.V358V,CYP4F3:NM_001199209:exon9:c.G1074A:p.V358V
19 15789140 2 CYP4F12 A G exonic nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A268G:p.I90V
19 16633950 2 CHERP T C exonic synonymous SNV CHERP:NM_006387:exon11:c.A1893G:p.P631P RS1043481 Fasting blood glucose:LDL cholesterol
19 16976286 2 SIN3B A G exonic synonymous SNV SIN3B:NM_001297597:exon2:c.A219G:p.L73L,SIN3B:NM_001297595:exon11:c.A1449G:p.L483L,SIN3B:NM_015260:exon12:c.A1545G:p.L515L
19 17273893 2 MYO9B G T exonic synonymous SNV MYO9B:NM_001130065:exon10:c.G1632T:p.L544L,MYO9B:NM_004145:exon10:c.G1632T:p.L544L RS7256689 Suicide attempts in bipolar disorder (substance abuse/dependence):Diastolic blood pressure (DBP):Years of education:College completion
19 17316782 2 MYO9B T C exonic nonsynonymous SNV MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A RS7248508 LDL cholesterol:HDL cholesterol:Triglycerides:Height:Obesity with early age of onset (age >2):Adiponectin levels
19 17317955 2 MYO9B A G exonic synonymous SNV MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S,MYO9B:NM_004145:exon35:c.A5526G:p.S1842S RS8110964 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
19 17330060 2 USE1 T C exonic nonsynonymous SNV USE1:NM_018467:exon7:c.T461C:p.L154S
19 17547292 2 TMEM221 A G exonic nonsynonymous SNV TMEM221:NM_001190844:exon3:c.T851C:p.M284T RS4808641 Neuroticism:LDL cholesterol:LDL cholesterol change with statins:Height:Infant head circumference
19 18123738 1 ARRDC2 T C exonic nonsynonymous SNV ARRDC2:NM_001025604:exon8:c.T1172C:p.L391P,ARRDC2:NM_001286826:exon8:c.T1184C:p.L395P,ARRDC2:NM_015683:exon8:c.T1187C:p.L396P RS7259041 HOMA-IR:Height
19 18248146 2 MAST3 T C exonic synonymous SNV MAST3:NM_015016:exon18:c.T1983C:p.A661A RS541225 HDL cholesterol:Cystatin C in serum:Refractive error
19 18273047 2 PIK3R2 T C exonic nonsynonymous SNV PIK3R2:NM_005027:exon8:c.T937C:p.S313P RS1011320 HDL cholesterol:Total cholesterol:Triglycerides:Refractive error:Tetrology of fallot
19 18279638 2 PIK3R2 T C exonic synonymous SNV PIK3R2:NM_005027:exon15:c.T1911C:p.S637S RS273269 PROP taste detection threshold
19 18497024 2 GDF15 G C exonic nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L RS1059519 PROP taste detection threshold:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 19040312 2 HOMER3 G C exonic nonsynonymous SNV HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R
19 19230868 2 TMEM161A A G exonic synonymous SNV TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,TMEM161A:NM_017814:exon12:c.T1311C:p.A437A
19 19735257 2 LPAR2 G T exonic synonymous SNV LPAR2:NM_004720:exon3:c.C864A:p.S288S
19 19989354 1 ZNF253 C T exonic nonsynonymous SNV ZNF253:NM_021047:exon2:c.C68T:p.T23I
19 19989355 1 ZNF253 T G exonic synonymous SNV ZNF253:NM_021047:exon2:c.T69G:p.T23T
19 20135066 2 ZNF682 G T exonic synonymous SNV ZNF682:NM_001077349:exon2:c.C27A:p.V9V,ZNF682:NM_033196:exon2:c.C123A:p.V41V
19 20808149 2 ZNF626 A G exonic synonymous SNV ZNF626:NM_001076675:exon4:c.T534C:p.C178C
19 21301127 1 ZNF714 C T exonic nonsynonymous SNV ZNF714:NM_182515:exon5:c.C1657T:p.R553C
19 23837365 2 ZNF675 A C exonic nonsynonymous SNV ZNF675:NM_138330:exon4:c.T370G:p.L124V
19 29704002 2 UQCRFS1 T C exonic synonymous SNV UQCRFS1:NM_006003:exon1:c.A24G:p.S8S
19 29704010 2 UQCRFS1 A C exonic nonsynonymous SNV UQCRFS1:NM_006003:exon1:c.T16G:p.S6A RS8100724 Eye color:Stabilized warfarin dose:Differential exon level expression of UQCRFS1 [probe 3857699] in peripheral blood mononuclear cells:Differential exon level expression of UQCRFS1 [probe 3857699] in brain cortex:HOMA-IR:Fasting blood glucose:Refractive error
19 32873698 2 ZNF507 A G exonic synonymous SNV ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S RS2270399 Comorbid depressive syndrome and alcohol dependence:Years of education:Adiponectin levels:College completion
19 33098632 1 ANKRD27 G C exonic nonsynonymous SNV ANKRD27:NM_032139:exon23:c.C2282G:p.P761R RS2302970 LDL cholesterol:HOMA-IR:Fasting insulin:LDL cholesterol:Cystatin C in serum:Urinary albumin-to-creatinine ratio
19 33106621 1 ANKRD27 C T exonic synonymous SNV ANKRD27:NM_032139:exon22:c.G2118A:p.A706A RS405858 HDL cholesterol:Gene expression of ANKRD27 probe [GI_14149802-S] in brain cortex with no Alzheimer's interaction:Major depressive disorder:Serum creatinine:Cystatin C in serum:Lysine/valine ratio:Obesity with early age of onset (age >2)
19 33110204 1 ANKRD27 T C exonic nonsynonymous SNV ANKRD27:NM_032139:exon20:c.A1969G:p.S657G RS2287669 HDL cholesterol:LDL cholesterol:Tardive dyskinesia:Fasting insulin:HOMA-IR:LDL cholesterol:Cystatin C in serum:LDL cholesterol:Gene expression of PDCD5 in blood
19 33183352 1 NUDT19 G C exonic synonymous SNV NUDT19:NM_001105570:exon1:c.G486C:p.P162P RS61732600 Lysine/valine ratio
19 33390796 2 CEP89 G A exonic synonymous SNV CEP89:NM_032816:exon16:c.C1842T:p.N614N RS10418340 Lysine/valine ratio
19 33487071 1 RHPN2 G C exonic synonymous SNV RHPN2:NM_033103:exon11:c.C1281G:p.A427A RS12610600 HDL cholesterol:College completion
19 33579128 1 GPATCH1 T C exonic synonymous SNV GPATCH1:NM_018025:exon2:c.T162C:p.S54S RS7259333 Irritible bowel syndrome:Fasting insulin:Gene expression of LRP3 in blood:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GPATCH1 (probeID ILMN_1655625) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of RHPN2 (probeID ILMN_1753143) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in non-Alzheimer's disease samples:Gene expression of GPATCH1 (probeID ILMN_1655625) in cerebellum in Alzheimer's disease cases:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of RHPN2 (probeID ILMN_1753143) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration
19 33600764 1 GPATCH1 T C exonic nonsynonymous SNV GPATCH1:NM_018025:exon11:c.T1427C:p.L476P RS2287679 Fasting insulin:Microalbuminuria:Serum dehydroepiandrosterone sulphate (DHEAS):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Lumbar spine bone mineral density (BMD):Gene expression of RHPN2 (probeID ILMN_1753143) in temporal cortex in Alzheimer's disease cases and controls:Femoral neck bone mineral density (BMD):Advanced age-related macular degeneration:Gene expression of RHPN2 (probeID ILMN_1753143) in cerebellum in Alzheimer's disease cases and controls
19 33602757 1 GPATCH1 C T exonic synonymous SNV GPATCH1:NM_018025:exon12:c.C1713T:p.H571H RS10420258 Microalbuminuria
19 33693785 1 LRP3 G A exonic synonymous SNV LRP3:NM_002333:exon3:c.G153A:p.T51T
19 33696354 1 LRP3 C T exonic synonymous SNV LRP3:NM_002333:exon5:c.C678T:p.R226R
19 33696621 1 LRP3 C T exonic synonymous SNV LRP3:NM_002333:exon5:c.C945T:p.G315G
19 33697546 1 LRP3 C T exonic synonymous SNV LRP3:NM_002333:exon6:c.C1632T:p.F544F RS1056041 Triglycerides:HDL cholesterol:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:Cystatin C in serum
19 34959979 2 UBA2 A G exonic synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S RS7259160 Autism:Adiponectin levels
19 34973413 2 WTIP T C exonic synonymous SNV WTIP:NM_001080436:exon1:c.T534C:p.A178A
19 34973476 2 WTIP G A exonic synonymous SNV WTIP:NM_001080436:exon1:c.G597A:p.E199E
19 35422808 1 ZNF30 C T exonic nonsynonymous SNV ZNF30:NM_001099437:exon3:c.C71T:p.S24F,ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F RS10422961 HOMA-B:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of ZNF30 [transcript NM_001099438, probe A_32_P203430] in liver:Presence of peripupillary pigmented ring:Gene expression of ZNF30 (probeID ILMN_1728230) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF30 (probeID ILMN_1728230) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
19 35450229 1 ZNF792 C T exonic nonsynonymous SNV ZNF792:NM_175872:exon4:c.G530A:p.R177Q RS2651079 Simpson-Angus Scale:LDL cholesterol:Total cholesterol:Lysine/valine ratio:Gene expression of ZNF792 in blood:Gene expression of ZNF30 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 35510102 1 GRAMD1A G C exonic synonymous SNV GRAMD1A:NM_001136199:exon11:c.G1200C:p.T400T,GRAMD1A:NM_001320035:exon11:c.G519C:p.T173T,GRAMD1A:NM_001320034:exon12:c.G1221C:p.T407T,GRAMD1A:NM_020895:exon12:c.G1221C:p.T407T,GRAMD1A:NM_001320036:exon13:c.G1479C:p.T493T RS2290646 Aortic valve calcium
19 35660508 2 FXYD5 G A exonic nonsynonymous SNV FXYD5:NM_001320913:exon8:c.G434A:p.R145H,FXYD5:NM_001164605:exon9:c.G527A:p.R176H,FXYD5:NM_014164:exon9:c.G527A:p.R176H,FXYD5:NM_144779:exon9:c.G527A:p.R176H RS12110 Gene expression of FXYD5 [probe 3830216] in brain cortex:Differential exon level expression of FXYD5 [probe 3830235] in brain cortex:Alopecia areata:Asthma:Gene expression of FXYD5 in liver:Gene expression of FXYD7///FXYD5 in blood:Gene expression of FXYD5 in blood:Gene expression of FXYD1 in blood:Resistance to kuru in aged women despite likely exposure
19 36243089 2 LIN37 T C exonic nonsynonymous SNV LIN37:NM_019104:exon2:c.T47C:p.V16A
19 36486445 2 SDHAF1 G C exonic nonsynonymous SNV SDHAF1:NM_001042631:exon1:c.G269C:p.C90S
19 36595436 2 WDR62 A C exonic nonsynonymous SNV WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F RS1008328 Fasting insulin:Total cholesterol:Gene expression of POLR2I in peripheral blood monocytes
19 37117302 2 ZNF382 A G exonic nonsynonymous SNV ZNF382:NM_001256838:exon5:c.A500G:p.E167G,ZNF382:NM_032825:exon5:c.A503G:p.E168G RS3108171 LDL cholesterol:Abnormal Involuntary Movement Scale:Lp-PLA2 mass:Bipolar disorder
19 37210805 2 ZNF567 C T exonic synonymous SNV ZNF567:NM_001322911:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322912:exon5:c.C1086T:p.Y362Y,ZNF567:NM_152603:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001300979:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322913:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322914:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322916:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322917:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322919:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322915:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322918:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322920:exon7:c.C1179T:p.Y393Y RS3108201 LDL cholesterol:Years of education
19 38652993 1 SIPA1L3 C T exonic synonymous SNV SIPA1L3:NM_015073:exon14:c.C3762T:p.S1254S RS332864 Response to Lithium Treatment for Bipolar disorder:Total cholesterol:Microalbuminuria:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 39440966 1 FBXO17 T C exonic synonymous SNV FBXO17:NM_148169:exon2:c.A21G:p.L7L RS2304118 Gene expression of SIRT2 (ENSG00000068903) in dendritic cells
19 39914748 1 PLEKHG2 G A exonic nonsynonymous SNV PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K RS31726 Gene expression of RPS16 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension (early onset hypertension):Aortic valve calcium:Maternal transmission distortion
19 39915637 1 PLEKHG2 G A exonic synonymous SNV PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q RS31727 LDL cholesterol change with statins:Total cholesterol change with statins:Aortic valve calcium
19 39915758 1 PLEKHG2 C G exonic nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A RS31728 LDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of SAMD4B (ENSG00000179134) in dendritic cells:Gene expression of RPS16 in normal prepouch ileum:Aortic valve calcium
19 39944082 1 SUPT5H C T exonic synonymous SNV SUPT5H:NM_003169:exon2:c.C162T:p.Y54Y,SUPT5H:NM_001111020:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130824:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130825:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319990:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319991:exon3:c.C162T:p.Y54Y
19 40030704 1 EID2 C T exonic nonsynonymous SNV EID2:NM_153232:exon1:c.G16A:p.A6T RS7252027 HDL cholesterol change with statins:Total cholesterol:LDL cholesterol:Body mass index (BMI):Acute lung injury following major trauma:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
19 41211056 2 COQ8B T C exonic nonsynonymous SNV COQ8B:NM_001142555:exon6:c.A398G:p.H133R,COQ8B:NM_024876:exon7:c.A521G:p.H174R RS3865452 Fasting insulin:HDL cholesterol:Gene expression of EGLN2 in blood:Gene expression of RAB4B in blood:Gene expression of MIA (ENSG00000167578) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of EGLN2 (ENSG00000171570) in dendritic cells:Mitral annular calcium:Gene expression change of EGLN2 (ENSG00000171570) in dendritic cells after treatment with Mycobacterium tuberculosis
19 41255500 2 C19orf54 C G exonic nonsynonymous SNV C19orf54:NM_198476:exon1:c.G209C:p.R70P RS2254343 Gene expression of FLJ41131 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HDL cholesterol:Gene expression of C19orf54 (probeID ILMN_1729546) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression of C19orf54 (probeID ILMN_1729546) in temporal cortex in Alzheimer's disease cases and controls
19 41627496 2 CYP2F1 C T exonic synonymous SNV CYP2F1:NM_000774:exon5:c.C618T:p.F206F
19 41809995 1 HNRNPUL1 A G exonic synonymous SNV HNRNPUL1:NM_001301016:exon13:c.A1824G:p.P608P,HNRNPUL1:NM_001321208:exon13:c.A1791G:p.P597P,HNRNPUL1:NM_001321211:exon13:c.A1791G:p.P597P,HNRNPUL1:NM_007040:exon13:c.A2091G:p.P697P,HNRNPUL1:NM_144732:exon13:c.A1791G:p.P597P RS1056854 Advanced age-related macular degeneration
19 41811730 2 HNRNPUL1 T C exonic synonymous SNV HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T
19 42736267 2 GSK3A A G exonic synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L
19 44047826 2 XRCC1 T A exonic nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y
19 44377357 2 ZNF404 C T exonic nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S
19 44419030 2 ZNF45 A G exonic synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H
19 44470663 2 ZNF221 G C exonic nonsynonymous SNV ZNF221:NM_001297588:exon5:c.G1009C:p.A337P,ZNF221:NM_001297589:exon5:c.G1009C:p.A337P,ZNF221:NM_013359:exon6:c.G1009C:p.A337P RS435590 Abnormal Involuntary Movement Scale
19 44471151 1 ZNF221 C G exonic synonymous SNV ZNF221:NM_001297588:exon5:c.C1497G:p.L499L,ZNF221:NM_001297589:exon5:c.C1497G:p.L499L,ZNF221:NM_013359:exon6:c.C1497G:p.L499L
19 44500478 2 ZNF155 A T exonic nonsynonymous SNV ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F
19 44500761 2 ZNF155 G A exonic nonsynonymous SNV ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H
19 44501116 2 ZNF155 A G exonic synonymous SNV ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E
19 44501227 2 ZNF155 A G exonic synonymous SNV ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G
19 44535999 2 ZNF222 G T exonic nonsynonymous SNV ZNF222:NM_001129996:exon4:c.G292T:p.V98F,ZNF222:NM_013360:exon4:c.G172T:p.V58F RS7258517 Differential exon level expression of GENSCAN00000004291 [probe 3835331] in peripheral blood mononuclear cells:Differential exon level expression of ZNF230 [probe 3835347] in peripheral blood mononuclear cells:Triglycerides change with statins
19 44570551 2 ZNF223 G A exonic synonymous SNV ZNF223:NM_013361:exon5:c.G570A:p.A190A RS4375771 HOMA-IR:LDL cholesterol change with statins
19 44610665 2 ZNF224 A G exonic nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A352G:p.M118V,ZNF224:NM_013398:exon6:c.A352G:p.M118V RS2068061 Bipolar disorder:Irritible bowel syndrome:Differential exon level expression of ZNF223 [probe 3835379] in brain cortex:LDL cholesterol change with statins:Gene expression of ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in blood:Bipolar disorder:Tetrology of fallot:Gene expression of ZNF230 in normal prepouch ileum:Gene expression of ZNF223 in normal prepouch ileum
19 44610798 2 ZNF224 A T exonic nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A485T:p.H162L,ZNF224:NM_013398:exon6:c.A485T:p.H162L
19 44611066 2 ZNF224 T C exonic synonymous SNV ZNF224:NM_001321645:exon6:c.T753C:p.H251H,ZNF224:NM_013398:exon6:c.T753C:p.H251H RS7508149 Gene expression of ZNF221 in CEU-CHB-JPT-YRI lymphoblastoid cell lines
19 44611420 2 ZNF224 A G exonic synonymous SNV ZNF224:NM_001321645:exon6:c.A1107G:p.E369E,ZNF224:NM_013398:exon6:c.A1107G:p.E369E RS4508518 Gene expression of ZNF221 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Late onset Alzheimer's disease:Bipolar disorder:Gene expression of ZNF230 in normal prepouch ileum:Gene expression of ZNF223 in normal prepouch ileum
19 44612231 2 ZNF224 A G exonic nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A1918G:p.K640E,ZNF224:NM_013398:exon6:c.A1918G:p.K640E RS3746319 Gene expression of ZNF221 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Irritible bowel syndrome:Late onset Alzheimer's disease:Partial epilepsy:Late onset Alzheimer's disease:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene expression of ZNF224///ZNF225 in blood:Gene expression of ZNF234///ZNF226 in blood:Bipolar disorder:Gene expression of ZNF230 in normal prepouch ileum:Gene expression of ZNF222 (ENSG00000159885) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ZNF223 in normal prepouch ileum:Gene expression change of ZNF222 (ENSG00000159885) in dendritic cells after treatment with Mycobacterium tuberculosis
19 44832684 1 ZNF112 T G exonic synonymous SNV ZNF112:NM_001348284:exon3:c.A1443C:p.T481T,ZNF112:NM_001348282:exon4:c.A1626C:p.T542T,ZNF112:NM_001348283:exon4:c.A1626C:p.T542T,ZNF112:NM_013380:exon4:c.A1626C:p.T542T,ZNF112:NM_001083335:exon5:c.A1644C:p.T548T,ZNF112:NM_001348281:exon5:c.A1695C:p.T565T,ZNF112:NM_001348285:exon5:c.A1443C:p.T481T RS2609880 Cystatin C in serum:Chronic kidney disease:LDL cholesterol:Mitral annular calcium:Birth weight
19 44832875 1 ZNF112 A G exonic nonsynonymous SNV ZNF112:NM_001348284:exon3:c.T1252C:p.Y418H,ZNF112:NM_001348282:exon4:c.T1435C:p.Y479H,ZNF112:NM_001348283:exon4:c.T1435C:p.Y479H,ZNF112:NM_013380:exon4:c.T1435C:p.Y479H,ZNF112:NM_001083335:exon5:c.T1453C:p.Y485H,ZNF112:NM_001348281:exon5:c.T1504C:p.Y502H,ZNF112:NM_001348285:exon5:c.T1252C:p.Y418H RS2722722 Schizophrenia:Premature ovarian failure:Cystatin C in serum:Partial epilepsy:LDL cholesterol:Total cholesterol:Gene expression of ZNF234///ZNF226 in blood:Bipolar disorder:Mitral annular calcium
19 44832992 1 ZNF112 C G exonic nonsynonymous SNV ZNF112:NM_001348284:exon3:c.G1135C:p.E379Q,ZNF112:NM_001348282:exon4:c.G1318C:p.E440Q,ZNF112:NM_001348283:exon4:c.G1318C:p.E440Q,ZNF112:NM_013380:exon4:c.G1318C:p.E440Q,ZNF112:NM_001083335:exon5:c.G1336C:p.E446Q,ZNF112:NM_001348281:exon5:c.G1387C:p.E463Q,ZNF112:NM_001348285:exon5:c.G1135C:p.E379Q RS2722723 Cystatin C in serum:LDL cholesterol:Total cholesterol:Mitral annular calcium
19 44833506 1 ZNF112 C T exonic synonymous SNV ZNF112:NM_001348284:exon3:c.G621A:p.E207E,ZNF112:NM_001348282:exon4:c.G804A:p.E268E,ZNF112:NM_001348283:exon4:c.G804A:p.E268E,ZNF112:NM_013380:exon4:c.G804A:p.E268E,ZNF112:NM_001083335:exon5:c.G822A:p.E274E,ZNF112:NM_001348281:exon5:c.G873A:p.E291E,ZNF112:NM_001348285:exon5:c.G621A:p.E207E RS4325673 LDL cholesterol:Mitral annular calcium
19 44981525 1 ZNF180 G A exonic synonymous SNV ZNF180:NM_001278508:exon4:c.C1098T:p.S366S,ZNF180:NM_001288761:exon4:c.C144T:p.S48S,ZNF180:NM_001288762:exon4:c.C144T:p.S48S,ZNF180:NM_001278509:exon5:c.C1092T:p.S364S,ZNF180:NM_001288759:exon5:c.C1170T:p.S390S,ZNF180:NM_001291633:exon5:c.C1092T:p.S364S,ZNF180:NM_013256:exon5:c.C1173T:p.S391S,ZNF180:NM_001288760:exon7:c.C144T:p.S48S RS2020083 Height (Pygmy height)
19 45162038 2 PVR A G exonic nonsynonymous SNV PVR:NM_001135770:exon6:c.A1020G:p.I340M,PVR:NM_006505:exon6:c.A1020G:p.I340M RS203710 Simpson-Angus Scale:Serum creatinine
19 45389224 2 NECTIN2 A G exonic synonymous SNV NECTIN2:NM_001042724:exon7:c.A1227G:p.P409P RS283814 Serum creatinine:Late onset Alzheimer's disease
19 45476422 2 CLPTM1 T C exonic synonymous SNV CLPTM1:NM_001282175:exon3:c.T222C:p.A74A,CLPTM1:NM_001294:exon3:c.T264C:p.A88A RS204481 Infant head circumference
19 45561063 2 CLASRP A G exonic nonsynonymous SNV CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E
19 45912002 1 CD3EAP A C exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A782C:p.K261T,CD3EAP:NM_012099:exon3:c.A776C:p.K259T RS735482 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Gene expression of ERCC1 in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Salmonella-induced pyroptosis
19 45912343 1 CD3EAP A G exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E,CD3EAP:NM_012099:exon3:c.A1117G:p.K373E RS762562 Chronic kidney disease:Serum creatinine:Cystatin C in serum:Salmonella-induced pyroptosis
19 45912406 1 CD3EAP G A exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N,CD3EAP:NM_012099:exon3:c.G1180A:p.D394N RS2336219 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of ERCC1 in peripheral blood monocytes:Gene expression of ERCC1 in blood:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Primary rhegmatogenous retinal detachment:Salmonella-induced pyroptosis
19 46269313 2 SIX5 G C exonic nonsynonymous SNV SIX5:NM_175875:exon3:c.C1666G:p.L556V
19 46289392 2 DMWD G C exonic synonymous SNV DMWD:NM_004943:exon3:c.C1362G:p.P454P
19 46319415 1 SYMPK G C exonic synonymous SNV SYMPK:NM_004819:exon26:c.C3381G:p.A1127A
19 46520026 2 CCDC61 A G exonic nonsynonymous SNV CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R RS2287306 LDL cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol
19 47177913 2 PRKD2 A G exonic nonsynonymous SNV PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A
19 47258842 1 FKRP C T exonic synonymous SNV FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A
19 47543774 2 NPAS1 G A exonic synonymous SNV NPAS1:NM_001321086:exon5:c.G507A:p.Q169Q,NPAS1:NM_002517:exon9:c.G1035A:p.Q345Q RS3745615 Triglycerides:Body mass index (BMI):Refractive error
19 47548678 2 NPAS1 G A exonic synonymous SNV NPAS1:NM_002517:exon12:c.G1542A:p.A514A
19 48182946 2 BICRA T C exonic synonymous SNV BICRA:NM_015711:exon6:c.T519C:p.P173P
19 48244194 2 EHD2 A G exonic synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L RS7255434 Triglycerides:Triglycerides
19 48258717 2 NOP53 A G exonic nonsynonymous SNV NOP53:NM_015710:exon9:c.A1166G:p.Q389R
19 48258772 2 NOP53 G A exonic synonymous SNV NOP53:NM_015710:exon9:c.G1221A:p.G407G
19 48654553 1 LIG1 G T exonic synonymous SNV LIG1:NM_001289063:exon6:c.C417A:p.A139A,LIG1:NM_001320971:exon6:c.C420A:p.A140A,LIG1:NM_000234:exon7:c.C510A:p.A170A,LIG1:NM_001320970:exon7:c.C507A:p.A169A RS20580 Gene expression of PLA2G4C [probe 209785_s_at] in lymphoblastoid cell lines:LDL cholesterol:Height:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
19 48863386 2 TMEM143 C T exonic synonymous SNV TMEM143:NM_001303539:exon3:c.G312A:p.S104S,TMEM143:NM_018273:exon3:c.G312A:p.S104S RS438767 Gene expression of CCDC114 (probeID ILMN_1658376) in cerebellum in Alzheimer's disease cases and controls:Years of education:Gene expression of CCDC114 (probeID ILMN_1658376) in temporal cortex in Alzheimer's disease cases and controls:College completion
19 48949286 2 GRWD1 G T exonic synonymous SNV GRWD1:NM_031485:exon1:c.G24T:p.R8R RS1643487 HDL cholesterol:HDL cholesterol:Advanced age-related macular degeneration (geographic atrophy)
19 49217261 2 MAMSTR A G exonic synonymous SNV MAMSTR:NM_001297753:exon5:c.T261C:p.R87R,MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R RS281385 Serum creatinine:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Aortic valve calcium
19 49513273 1 RUVBL2 C T exonic synonymous SNV RUVBL2:NM_001321190:exon8:c.C511T:p.L171L,RUVBL2:NM_001321191:exon8:c.C478T:p.L160L,RUVBL2:NM_006666:exon8:c.C613T:p.L205L RS1062708 Gene expression of RUVBL2 in lymphoblastoid cell lines:Differential splicing of RUVBL2 [probeset 3838136] in lymphoblastoid cell lines:Schizophrenia:Ischemic stroke:Type 2 diabetes:2 hour glucose:Total cholesterol:Gene expression of LHB [transcript NM_000894, probe A_23_P218505] in liver:Tetrology of fallot
19 49950298 1 PIH1D1 C T exonic nonsynonymous SNV PIH1D1:NM_017916:exon7:c.G670A:p.V224I RS13394 LDL cholesterol:Gene expression of ALDH16A1 (ENSG00000161618) in dendritic cells:Gene expression of ALDH16A1 (ENSG00000161618) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of RCN3 (ENSG00000142552) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ALDH16A1 (probeID ILMN_2051381) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ALDH16A1 (probeID ILMN_2051381) in cerebellum in Alzheimer's disease cases and controls:Gene expression change of RCN3 (ENSG00000142552) in dendritic cells after treatment with Mycobacterium tuberculosis
19 49954803 1 PIH1D1 C T exonic nonsynonymous SNV PIH1D1:NM_017916:exon1:c.G29A:p.G10E RS2293013 Rheumatoid arthritis
19 49954807 1 PIH1D1 T G exonic nonsynonymous SNV PIH1D1:NM_017916:exon1:c.A25C:p.M9L RS2293012 Prostate cancer
19 49964977 1 ALDH16A1 C G exonic nonsynonymous SNV ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V,ALDH16A1:NM_153329:exon6:c.C679G:p.L227V RS1320303 LDL cholesterol:Gene expression of PIH1D1 (ENSG00000104872) in dendritic cells treated with Mycobacterium tuberculosis
19 49965173 1 ALDH16A1 A T exonic synonymous SNV ALDH16A1:NM_153329:exon7:c.A792T:p.G264G
19 50154904 2 SCAF1 A C exonic nonsynonymous SNV SCAF1:NM_021228:exon7:c.A1258C:p.T420P
19 50156896 2 SCAF1 T C exonic synonymous SNV SCAF1:NM_021228:exon7:c.T3250C:p.L1084L
19 50383591 2 TBC1D17 A G exonic nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.A152G:p.D51G,TBC1D17:NM_024682:exon4:c.A251G:p.D84G
19 50411742 2 NUP62 A G exonic synonymous SNV NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D
19 50435747 1 ATF5 T C exonic synonymous SNV ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_001290746:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L RS283525 Spine bone mineral density (BMD):Stabilized warfarin dose:Serum creatinine:Gene expression of PTOV1///PNKP in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
19 51841417 1 VSIG10L C T exonic nonsynonymous SNV VSIG10L:NM_001163922:exon6:c.G1775A:p.R592Q
19 51844978 1 VSIG10L G T exonic synonymous SNV VSIG10L:NM_001163922:exon2:c.C324A:p.S108S RS8105710 Fasting blood glucose:HOMA-IR:Gene expression of ETFB in blood:Gene expression of ETFB///CLDND2 in blood:Hypertension (early onset hypertension)
19 53217326 1 ZNF611 T C exonic synonymous SNV ZNF611:NM_001161500:exon4:c.A132G:p.S44S,ZNF611:NM_001161499:exon5:c.A132G:p.S44S,ZNF611:NM_030972:exon6:c.A132G:p.S44S
19 53303527 2 ZNF28 A G exonic nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T
19 53344701 1 ZNF468 A G exonic synonymous SNV ZNF468:NM_001008801:exon4:c.T846C:p.H282H RS10420793 LDL cholesterol:HDL cholesterol change with statins:Gene expression of SFXN2 in peripheral blood monocytes:Partial epilepsy:Resistance to kuru in aged women despite likely exposure:Maternal transmission distortion:Transmission distortion
19 53344919 1 ZNF468 T G exonic nonsynonymous SNV ZNF468:NM_001008801:exon4:c.A628C:p.M210L
19 53348505 1 ZNF468 G A exonic nonsynonymous SNV ZNF468:NM_001277120:exon4:c.C187T:p.R63C
19 53453777 1 ZNF816 C T exonic synonymous SNV ZNF816:NM_001202456:exon4:c.G1251A:p.K417K,ZNF816:NM_001202457:exon4:c.G1251A:p.K417K,ZNF816:NM_001031665:exon5:c.G1251A:p.K417K
19 53454604 1 ZNF816 T G exonic nonsynonymous SNV ZNF816:NM_001202456:exon4:c.A424C:p.S142R,ZNF816:NM_001202457:exon4:c.A424C:p.S142R,ZNF816:NM_001031665:exon5:c.A424C:p.S142R
19 53669273 2 ZNF665 T C exonic nonsynonymous SNV ZNF665:NM_024733:exon4:c.A470G:p.H157R RS4801959 Triglycerides:Partial epilepsy:Autism:Sporadic Creutzfeldt-Jakob disease:Refractive error:Adiponectin levels:Aortic valve calcium
19 53761633 1 VN1R2 C G exonic nonsynonymous SNV VN1R2:NM_173856:exon1:c.C5G:p.T2S
19 53761650 2 VN1R2 A G exonic nonsynonymous SNV VN1R2:NM_173856:exon1:c.A22G:p.T8A
19 53912242 2 ZNF765 G A exonic synonymous SNV ZNF765:NM_001350495:exon3:c.G1275A:p.T425T,ZNF765:NM_001040185:exon4:c.G1434A:p.T478T RS10426347 HDL cholesterol:Gene expression of ARHGEF9 in peripheral blood monocytes:Microalbuminuria:Birth weight
19 53993670 2 ZNF813 G A exonic nonsynonymous SNV ZNF813:NM_001004301:exon4:c.G184A:p.A62T RS2617667 Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 54080144 2 ZNF331 A G exonic synonymous SNV ZNF331:NM_001253801:exon5:c.A330G:p.R110R,ZNF331:NM_001317113:exon5:c.A330G:p.R110R,ZNF331:NM_001317116:exon5:c.A330G:p.R110R,ZNF331:NM_001317119:exon5:c.A330G:p.R110R,ZNF331:NM_001317121:exon5:c.A330G:p.R110R,ZNF331:NM_001079906:exon6:c.A330G:p.R110R,ZNF331:NM_001079907:exon6:c.A330G:p.R110R,ZNF331:NM_001253799:exon6:c.A330G:p.R110R,ZNF331:NM_001253800:exon6:c.A330G:p.R110R,ZNF331:NM_001317114:exon6:c.A330G:p.R110R,ZNF331:NM_001317117:exon6:c.A330G:p.R110R,ZNF331:NM_001317118:exon6:c.A330G:p.R110R,ZNF331:NM_001253798:exon7:c.A330G:p.R110R,ZNF331:NM_001317115:exon7:c.A330G:p.R110R,ZNF331:NM_001317120:exon7:c.A330G:p.R110R,ZNF331:NM_018555:exon7:c.A330G:p.R110R RS8109631 Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
19 54209387 2
19 54649671 2 CNOT3 T C exonic synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P
19 54677759 2 MBOAT7 T C exonic synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P
19 54966579 1 LENG8 C G exonic synonymous SNV LENG8:NM_052925:exon8:c.C858G:p.P286P RS889147 HOMA-B:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of LENG8 (ENSG00000167615) in dendritic cells
19 54973280 1 LENG9 C G exonic nonsynonymous SNV LENG9:NM_001301782:exon1:c.G1430C:p.R477P,LENG9:NM_198988:exon1:c.G1496C:p.R499P RS10423424 Fasting blood glucose:HOMA-B:Microalbuminuria
19 55570574 2 RDH13 A G exonic synonymous SNV RDH13:NM_001145971:exon2:c.T135C:p.G45G RS1654447 Waist hip ratio:Gene expression of NLRP2 (probeID ILMN_1664878) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of EPS8L1 (probeID ILMN_1671600) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GP6 (probeID ILMN_2223772) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NLRP2 (probeID ILMN_1664878) in temporal cortex in Alzheimer's disease cases
19 55614923 1 PPP1R12C T C exonic synonymous SNV PPP1R12C:NM_001271618:exon4:c.A585G:p.E195E,PPP1R12C:NM_017607:exon4:c.A585G:p.E195E RS2532060 Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of SYT5 [transcript NM_003180, probe A_24_P373877] in liver:Advanced age-related macular degeneration (geographic atrophy)
19 55671337 2 DNAAF3 C T exonic nonsynonymous SNV DNAAF3:NM_001256714:exon10:c.G1294A:p.D432N,DNAAF3:NM_001256715:exon10:c.G1093A:p.D365N,DNAAF3:NM_001256716:exon10:c.G931A:p.D311N,DNAAF3:NM_178837:exon10:c.G1234A:p.D412N
19 55708557 1 PTPRH A G exonic synonymous SNV PTPRH:NM_001161440:exon7:c.T1384C:p.L462L,PTPRH:NM_002842:exon9:c.T1918C:p.L640L RS2288521 Lung function, forced expiratory volume in 1 second (FEV1):HDL cholesterol:Total cholesterol:Total cholesterol change with statins:Gene expression of TNNT1 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Microalbuminuria:Aortic valve calcium
19 55913038 1 UBE2S C T exonic synonymous SNV UBE2S:NM_014501:exon4:c.G435A:p.A145A
19 56041255 2 SBK2 C G exonic nonsynonymous SNV SBK2:NM_001101401:exon4:c.G892C:p.A298P
19 56047448 2 SBK2 A G exonic nonsynonymous SNV SBK2:NM_001101401:exon2:c.T214C:p.C72R RS310453 Rheumatoid arthritis:Urinary albumin-to-creatinine ratio
19 56104136 1 FIZ1 T C exonic nonsynonymous SNV FIZ1:NM_032836:exon3:c.A1171G:p.T391A
19 56114045 1 ZNF524 C T exonic synonymous SNV ZNF524:NM_153219:exon2:c.C567T:p.H189H
19 56114237 1 ZNF524 G A exonic synonymous SNV ZNF524:NM_153219:exon2:c.G759A:p.E253E
19 56127441 1 ZNF865 C G exonic synonymous SNV ZNF865:NM_001195605:exon1:c.C2457G:p.T819T
19 56162776 2 CCDC106 C T exonic synonymous SNV CCDC106:NM_013301:exon5:c.C441T:p.S147S RS2287791 Rheumatoid arthritis:Obesity with early age of onset (age >2):Infant head circumference:Mitral annular calcium
19 56180968 2 U2AF2 C T exonic synonymous SNV U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D RS617073 Major depressive disorder:Rheumatoid arthritis:Infant head circumference:Obesity with early age of onset (age >2):Mitral annular calcium
19 56599405 1 ZNF787 C G exonic nonsynonymous SNV ZNF787:NM_001002836:exon4:c.G1133C:p.G378A
19 56599452 1 ZNF787 G C exonic nonsynonymous SNV ZNF787:NM_001002836:exon3:c.C1089G:p.D363E
19 57132968 1 ZNF71 G A exonic nonsynonymous SNV ZNF71:NM_021216:exon3:c.G313A:p.V105I RS2072501 Irritible bowel syndrome:Simpson-Angus Scale:Gene expression of ZIM2 [probe ILMN_24950] in osteoblasts treated with dexamethasone:Infant head circumference
19 57839150 2 ZNF543 A G exonic nonsynonymous SNV ZNF543:NM_213598:exon4:c.A320G:p.Q107R
19 57868336 2 ZNF304 A G exonic nonsynonymous SNV ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E RS862709 Urinary albumin-to-creatinine ratio:Parkinson's disease
19 57931303 1 ZNF17 C A exonic nonsynonymous SNV ZNF17:NM_006959:exon3:c.C443A:p.T148K,ZNF17:NM_001330617:exon4:c.C449A:p.T150K RS2014827 Lp-PLA2 mass:Mitral annular calcium:Gene expression of ZNF749 in normal prepouch ileum
19 57956828 2 ZNF749 T G exonic nonsynonymous SNV ZNF749:NM_001321953:exon2:c.T2051G:p.I684R,ZNF749:NM_001321954:exon2:c.T2051G:p.I684R,ZNF749:NM_001023561:exon3:c.T2312G:p.I771R,ZNF749:NM_001321952:exon3:c.T2291G:p.I764R RS7246856 Schizophrenia:Total cholesterol:Height:Gene expression of ZNF773 in blood:Gene expression of ZNF211 in blood:Resistance to kuru in aged women despite likely exposure:Years of education:Mitral annular calcium
19 58058536 2 ZNF550 A G exonic nonsynonymous SNV ZNF550:NM_001277090:exon4:c.T1076C:p.I359T,ZNF550:NM_001277091:exon4:c.T1076C:p.I359T,ZNF550:NM_001277092:exon4:c.T1076C:p.I359T RS1548476 Stabilized warfarin dose:LDL cholesterol:Rheumatoid arthritis:Gene expression of ZNF773 in blood:Gene expression of ZNF586 in blood:Sporadic Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Gene expression change of ZIK1 (ENSG00000171649) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ZNF773 in normal prepouch ileum:Primary rhegmatogenous retinal detachment:Gene expression of ZIK1 (ENSG00000171649) in dendritic cells treated with Mycobacterium tuberculosis
19 58058739 2 ZNF550 T C exonic synonymous SNV ZNF550:NM_001277090:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277091:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277092:exon4:c.A873G:p.Q291Q RS10410631 Total cholesterol:Gene expression of DUSP6 in peripheral blood monocytes:Gene expression of ZNF772 in peripheral blood monocytes:Gene expression of ZNF551 [transcript NM_138347, probe A_24_P68019] in liver:Resistance to kuru in aged women despite likely exposure
19 58319697 1 ZNF552 A G exonic nonsynonymous SNV ZNF552:NM_024762:exon3:c.T935C:p.I312T
19 58319706 1 ZNF552 T C exonic nonsynonymous SNV ZNF552:NM_024762:exon3:c.A926G:p.Y309C
19 58384779 1 ZNF814 A T exonic nonsynonymous SNV ZNF814:NM_001144989:exon3:c.T1979A:p.F660Y
19 58384812 1 ZNF814 T C exonic nonsynonymous SNV ZNF814:NM_001144989:exon3:c.A1946G:p.N649S
19 58453342 1 ZNF256 T C exonic synonymous SNV ZNF256:NM_005773:exon3:c.A834G:p.Q278Q RS959231 LDL cholesterol change with statins
19 58774071 1 ZNF544 A G exonic nonsynonymous SNV ZNF544:NM_001320770:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320771:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320773:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320767:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320769:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320774:exon7:c.A1394G:p.Q465R,ZNF544:NM_014480:exon7:c.A2099G:p.Q700R RS260462 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Eye color:Gene expression of ZNF544 [probe 3843848] in peripheral blood mononuclear cells:Differential exon level expression of ZNF544 [probe 3843868] in peripheral blood mononuclear cells:Differential exon level expression of ZNF544 [probe 3843868] in brain cortex:HDL cholesterol change with statins:HDL cholesterol:Asthma:Gene expression of ZSCAN18 in blood:Gene expression of ZNF544 in blood:Gene expression of ZNF329 in blood:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum in Alzheimer's disease cases:Gene expression of ZNF544 (probeID ILMN_2052079) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Gene expression of ZNF544 (probeID ILMN_2052079) in temporal cortex in Alzheimer's disease cases and controls:Acute lung injury following major trauma
19 58806083 1 ZNF8 T C exonic synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H RS260471 HOMA-B:Fasting insulin:Chronic kidney disease:Gene expression of ZNF274 [transcript NM_016325, probe A_23_P153251] in liver:Gene expression of ZNF8 in normal prepouch ileum
19 58982384 2 ZNF324 A G exonic synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R
19 59074653 1 MZF1 T C exonic nonsynonymous SNV MZF1:NM_003422:exon6:c.A991G:p.I331V,MZF1:NM_198055:exon6:c.A991G:p.I331V RS4756 HDL cholesterol:LDL cholesterol:Advanced age-related macular degeneration
19 71401607 2
19 118678364 2
19 148681299 2
20 371972 1 TRIB3 T C exonic synonymous SNV TRIB3:NM_001301188:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301190:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301193:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301196:exon3:c.T333C:p.Y111Y,TRIB3:NM_021158:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301201:exon4:c.T414C:p.Y138Y RS6051637 Birth weight
20 825678 2 FAM110A T C exonic synonymous SNV FAM110A:NM_031424:exon1:c.T231C:p.F77F,FAM110A:NM_001042353:exon2:c.T231C:p.F77F,FAM110A:NM_001289146:exon2:c.T231C:p.F77F,FAM110A:NM_001289147:exon2:c.T231C:p.F77F,FAM110A:NM_207121:exon2:c.T231C:p.F77F,FAM110A:NM_001289145:exon3:c.T231C:p.F77F
20 1099523 2 PSMF1 T G exonic nonsynonymous SNV PSMF1:NM_001323408:exon1:c.T107G:p.F36C,PSMF1:NM_001323409:exon1:c.T107G:p.F36C,PSMF1:NM_001323410:exon1:c.T107G:p.F36C,PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C RS1803415 Differential exon level expression of PSMF1 [probe 3873394] in peripheral blood mononuclear cells:Late onset Alzheimer's disease:Parkinson's disease
20 1592265 2 SIRPB1 A G exonic synonymous SNV SIRPB1:NM_001135844:exon2:c.T171C:p.T57T,SIRPB1:NM_001329157:exon2:c.T171C:p.T57T
20 1592284 2 SIRPB1 G A exonic nonsynonymous SNV SIRPB1:NM_001135844:exon2:c.C152T:p.T51I,SIRPB1:NM_001329157:exon2:c.C152T:p.T51I
20 1592312 2 SIRPB1 T C exonic nonsynonymous SNV SIRPB1:NM_001135844:exon2:c.A124G:p.I42V,SIRPB1:NM_001329157:exon2:c.A124G:p.I42V
20 1895889 1 SIRPA G C exonic nonsynonymous SNV SIRPA:NM_001040023:exon2:c.G224C:p.G75A,SIRPA:NM_001040022:exon3:c.G224C:p.G75A,SIRPA:NM_001330728:exon3:c.G224C:p.G75A,SIRPA:NM_080792:exon3:c.G224C:p.G75A
20 2633936 2 NOP56 T C exonic synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S
20 2637071 2 NOP56 T C exonic synonymous SNV NOP56:NM_006392:exon9:c.T1035C:p.T345T
20 3147762 2 LZTS3 A G exonic synonymous SNV LZTS3:NM_001282533:exon3:c.T48C:p.D16D
20 3285140 2 C20orf194 T C exonic nonsynonymous SNV C20orf194:NM_001009984:exon21:c.A1729G:p.R577G RS2422864 Major depressive disorder:Fasting blood glucose:Serum creatinine:Chronic kidney disease:Asthma:Microalbuminuria:Urinary albumin-to-creatinine ratio:Suicide attempts in bipolar disorder:PROP taste detection threshold:Bipolar disorder
20 3564672 2 ATRN C T exonic synonymous SNV ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_001323332:exon17:c.C2892T:p.Y964Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y RS235540 Aortic valve calcium:Mitral annular calcium
20 3838441 1 MAVS C G exonic nonsynonymous SNV MAVS:NM_020746:exon3:c.C277G:p.Q93E
20 6759115 2 BMP2 A T exonic nonsynonymous SNV BMP2:NM_001200:exon3:c.A570T:p.R190S RS235768 Response to Lithium Treatment for Bipolar disorder:Serum creatinine:LDL cholesterol:Type 2 diabetes
20 8755243 1 PLCB1 T C exonic synonymous SNV PLCB1:NM_015192:exon27:c.T2988C:p.A996A,PLCB1:NM_182734:exon27:c.T2988C:p.A996A
20 18143117 2 KAT14 T G exonic nonsynonymous SNV KAT14:NM_020536:exon6:c.T1199G:p.V400G
20 18167977 2 KAT14 T C exonic synonymous SNV KAT14:NM_020536:exon10:c.T2223C:p.P741P
20 18296072 2 ZNF133 T A exonic nonsynonymous SNV ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T
20 23618395 2 CST3 T C exonic synonymous SNV CST3:NM_000099:exon1:c.A105G:p.L35L,CST3:NM_001288614:exon1:c.A105G:p.L35L
20 25259006 1 PYGB G T exonic nonsynonymous SNV PYGB:NM_002862:exon8:c.G907T:p.A303S RS2228976 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years of education
20 25262769 1 PYGB G A exonic nonsynonymous SNV PYGB:NM_002862:exon12:c.G1504A:p.D502N RS2227891 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:Years of education:Gene expression change of PYGB (ENSG00000100994) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 30795819 2 POFUT1 T C exonic synonymous SNV POFUT1:NM_015352:exon1:c.T75C:p.P25P,POFUT1:NM_172236:exon1:c.T75C:p.P25P
20 31022959 2 ASXL1 T C exonic nonsynonymous SNV ASXL1:NM_015338:exon12:c.T2444C:p.L815P
20 32664866 1 RALY G A exonic nonsynonymous SNV RALY:NM_007367:exon7:c.G643A:p.G215S,RALY:NM_016732:exon8:c.G691A:p.G231S
20 32664880 1 RALY T C exonic synonymous SNV RALY:NM_007367:exon7:c.T657C:p.G219G,RALY:NM_016732:exon8:c.T705C:p.G235G
20 33337751 2 NCOA6 T C exonic synonymous SNV NCOA6:NM_001242539:exon7:c.A2247G:p.P749P,NCOA6:NM_014071:exon9:c.A2247G:p.P749P,NCOA6:NM_001318240:exon10:c.A2247G:p.P749P RS3787220 Triglycerides:Total cholesterol:HDL cholesterol:Triglycerides:Height:Body mass index (BMI):Bipolar disorder:Obesity with early age of onset (age >2):Breast cancer (Estrogen receptor negative breast cancer)
20 33657126 1 TRPC4AP G A exonic synonymous SNV TRPC4AP:NM_015638:exon3:c.C387T:p.Y129Y,TRPC4AP:NM_199368:exon3:c.C387T:p.Y129Y RS1998233 HDL cholesterol:Hair color (red):Total cholesterol:Gene expression of TRPC4AP in CD4+ lymphocytes:Asthma:Height:Gene expression of MYH7B///TRPC4AP in blood:Gene expression of EIF6 in blood:Gene expression of EDEM2 in blood:Gene expression of [probe 7100544 centered at chr20:33266985] in blood:Bipolar disorder:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 35491551 2 SOGA1 A G exonic nonsynonymous SNV SOGA1:NM_080627:exon1:c.T197C:p.F66S
20 36030939 2 SRC G C exonic synonymous SNV SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A
20 36147572 1 BLCAP T C exonic nonsynonymous SNV BLCAP:NM_001167821:exon2:c.A5G:p.Y2C,BLCAP:NM_001167822:exon2:c.A5G:p.Y2C,BLCAP:NM_001167823:exon2:c.A5G:p.Y2C,BLCAP:NM_001317074:exon2:c.A5G:p.Y2C,BLCAP:NM_001317075:exon2:c.A5G:p.Y2C,BLCAP:NM_006698:exon2:c.A5G:p.Y2C,BLCAP:NM_001167820:exon3:c.A5G:p.Y2C
20 42825929 1 OSER1 C T exonic synonymous SNV OSER1:NM_016470:exon4:c.G642A:p.V214V RS8268 2 hour glucose:Serum creatinine
20 42826350 1 OSER1 A C exonic nonsynonymous SNV OSER1:NM_016470:exon4:c.T221G:p.V74G RS9346 Rheumatoid arthritis:Serum creatinine:Gene expression of C20orf111 in blood:Tetrology of fallot
20 42939750 2 FITM2 T C exonic synonymous SNV FITM2:NM_001080472:exon1:c.A39G:p.G13G
20 43566787 1 PABPC1L A G exonic synonymous SNV PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S RS11780 SYS1 (Transcript:AI096624 ) gene expression in psoriasis case, uninvolved tissue:PROP taste detection threshold:Years of education
20 44596207 2 ZNF335 C G exonic nonsynonymous SNV ZNF335:NM_022095:exon6:c.G881C:p.S294T RS6032606 Triglycerides change with statins:Total cholesterol change with statins:College completion:Obesity with early age of onset (age >2)
20 44996182 2 ELMO2 A G exonic synonymous SNV ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_001318253:exon22:c.T1716C:p.D572D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D
20 45853037 2 ZMYND8 A G exonic synonymous SNV ZMYND8:NM_001281771:exon18:c.T2733C:p.T911T,ZMYND8:NM_001281776:exon18:c.T2808C:p.T936T,ZMYND8:NM_001281781:exon18:c.T2835C:p.T945T,ZMYND8:NM_001281782:exon18:c.T2895C:p.T965T,ZMYND8:NM_001281784:exon18:c.T2973C:p.T991T,ZMYND8:NM_001281775:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281777:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281778:exon19:c.T3114C:p.T1038T,ZMYND8:NM_001281783:exon19:c.T3189C:p.T1063T,ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281773:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281774:exon20:c.T2991C:p.T997T,ZMYND8:NM_001281779:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281780:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281772:exon21:c.T3129C:p.T1043T
20 47626847 1 ARFGEF2 T C exonic synonymous SNV ARFGEF2:NM_006420:exon27:c.T3663C:p.G1221G RS2295580 Major depressive disorder:Fasting insulin:HOMA-IR:Gene expression of ARFGEF2 in peripheral blood monocytes:LDL cholesterol:Height:Bipolar disorder:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Advanced age-related macular degeneration:Sarcoidosis:Years of education
20 47630449 1 ARFGEF2 C T exonic synonymous SNV ARFGEF2:NM_006420:exon30:c.C4131T:p.I1377I RS2281582 Hip bone mineral density (BMD):Barnes Akathisia Rating Scale:Height:Body mass index (BMI):Cognitive response to topiramate treatment:Salmonella-induced pyroptosis
20 47865372 1 ZNFX1 G A exonic synonymous SNV ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L RS238208 Triglycerides change with statins:Height:Salmonella-induced pyroptosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 47886684 1 ZNFX1 G A exonic synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y RS57950 Height:Gene expression of ZNFX1 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Salmonella-induced pyroptosis
20 48259034 1 B4GALT5 A G exonic synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L RS2235855 HOMA-B:Total cholesterol:PROP taste detection threshold
20 48770159 2 TMEM189;TMEM189-UBE2V1 T C exonic nonsynonymous SNV TMEM189:NM_001162505:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D
20 52192408 1 ZNF217 C T exonic synonymous SNV ZNF217:NM_006526:exon3:c.G2895A:p.A965A
20 52193368 1 ZNF217 C T exonic synonymous SNV ZNF217:NM_006526:exon3:c.G1935A:p.A645A RS3748503 HDL cholesterol
20 52193660 1 ZNF217 G A exonic nonsynonymous SNV ZNF217:NM_006526:exon3:c.C1643T:p.T548I
20 52193698 1 ZNF217 G A exonic synonymous SNV ZNF217:NM_006526:exon3:c.C1605T:p.N535N RS7270855 HDL cholesterol:Microalbuminuria:Adiponectin levels
20 52198340 1 ZNF217 T A exonic synonymous SNV ZNF217:NM_006526:exon1:c.A1026T:p.A342A
20 54961463 1 AURKA T C exonic nonsynonymous SNV AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_001323303:exon4:c.A169G:p.I57V,AURKA:NM_001323304:exon4:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_001323305:exon5:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V RS1047972 Eye color:Triglycerides:Height:Gene expression of C20orf108 in blood:Age at death with kuru exposure:Gene expression of CSTF1 (ENSG00000101138) in dendritic cells treated with Mycobacterium tuberculosis
20 55088404 2 RTFDC1 A G exonic nonsynonymous SNV RTFDC1:NM_001283036:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283035:exon7:c.A601G:p.M201V RS1059768 Amyotrophic lateral sclerosis (ALS):Alzheimer's disease:HOMA-B:Amyotrophic lateral sclerosis (ALS):Parkinson's disease
20 56227514 1 PMEPA1 T C exonic synonymous SNV PMEPA1:NM_001255976:exon4:c.A375G:p.S125S,PMEPA1:NM_020182:exon4:c.A459G:p.S153S,PMEPA1:NM_199169:exon4:c.A354G:p.S118S,PMEPA1:NM_199170:exon4:c.A309G:p.S103S,PMEPA1:NM_199171:exon4:c.A309G:p.S103S RS6025698 Cystatin C in serum:Serum creatinine:Rheumatoid arthritis:Microalbuminuria:Adiponectin levels
20 57478807 1 GNAS C T exonic synonymous SNV GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077488:exon5:c.C396T:p.I132I,GNAS:NM_001309840:exon5:c.C216T:p.I72I,GNAS:NM_001309861:exon5:c.C216T:p.I72I,GNAS:NM_080425:exon5:c.C2322T:p.I774I RS7121 Body mass index (BMI):College completion:Aortic valve calcium:Years of education
20 60572663 2 TAF4 C A exonic synonymous SNV TAF4:NM_003185:exon14:c.G3033T:p.A1011A RS2296081 Obesity with early age of onset (age >2):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 60713311 2 PSMA7 G A exonic synonymous SNV PSMA7:NM_002792:exon5:c.C507T:p.R169R
20 60713332 2 PSMA7 A G exonic synonymous SNV PSMA7:NM_002792:exon5:c.T486C:p.G162G RS1135961 HDL cholesterol:Total cholesterol
20 60881330 2 ADRM1 G A exonic synonymous SNV ADRM1:NM_001281437:exon3:c.G291A:p.A97A,ADRM1:NM_001281438:exon3:c.G291A:p.A97A,ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A
20 60881780 2 ADRM1 T C exonic synonymous SNV ADRM1:NM_001281437:exon4:c.T414C:p.L138L,ADRM1:NM_001281438:exon4:c.T414C:p.L138L,ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L
20 60892526 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon55:c.T7386C:p.D2462D
20 60900481 2 LAMA5 A G exonic nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S
20 60900579 2 LAMA5 C A exonic synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T
20 60904853 2 LAMA5 T C exonic nonsynonymous SNV LAMA5:NM_005560:exon32:c.A4099G:p.K1367E RS2427286 Triglycerides:2 hour glucose
20 60905878 2 LAMA5 A G exonic nonsynonymous SNV LAMA5:NM_005560:exon30:c.T3773C:p.M1258T RS3810548 2 hour glucose:Birth weight
20 60907675 2 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon27:c.C3381T:p.A1127A
20 60909060 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon23:c.T2775C:p.P925P
20 60912683 2 LAMA5 T C exonic synonymous SNV LAMA5:NM_005560:exon16:c.A2127G:p.T709T RS2427289 Urinary albumin-to-creatinine ratio
20 60921643 2 LAMA5 T C exonic nonsynonymous SNV LAMA5:NM_005560:exon9:c.A1201G:p.T401A
20 60927349 2 LAMA5 C T exonic synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A RS483876 Urinary albumin-to-creatinine ratio
20 61512606 2 DIDO1 T C exonic nonsynonymous SNV DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A,DIDO1:NM_033081:exon16:c.A4702G:p.T1568A
20 61528074 1 DIDO1 T C exonic synonymous SNV DIDO1:NM_001193369:exon7:c.A1863G:p.A621A,DIDO1:NM_001193370:exon7:c.A1863G:p.A621A,DIDO1:NM_033081:exon7:c.A1863G:p.A621A,DIDO1:NM_080797:exon7:c.A1863G:p.A621A
20 61594679 2 SLC17A9 A G exonic nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S
20 62191321 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon13:c.T6078C:p.N2026N,HELZ2:NM_001037335:exon19:c.T7785C:p.N2595N RS3810477 LDL cholesterol:Gene expression of STMN3 (ENSG00000197457) in dendritic cells treated with Mycobacterium tuberculosis
20 62196807 2 HELZ2 T C exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R
20 62196884 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon3:c.T1584C:p.T528T,HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T
20 62198236 2 HELZ2 G A exonic synonymous SNV HELZ2:NM_033405:exon1:c.C768T:p.R256R,HELZ2:NM_001037335:exon7:c.C2475T:p.R825R
20 62198348 2 HELZ2 C T exonic nonsynonymous SNV HELZ2:NM_033405:exon1:c.G656A:p.S219N,HELZ2:NM_001037335:exon7:c.G2363A:p.S788N RS438363 HDL cholesterol:Serum creatinine:Gene expression of C20orf195 in CD4+ lymphocytes:Advanced age-related macular degeneration
20 62198662 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon1:c.T342C:p.Y114Y,HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y
20 62200575 2 HELZ2 T C exonic synonymous SNV HELZ2:NM_001037335:exon5:c.A1014G:p.S338S
20 62200860 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_001037335:exon5:c.T729C:p.A243A RS1757752 HDL cholesterol:Gene expression change of PTK6 (ENSG00000101213) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of STMN3 (ENSG00000197457) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of PTK6 (ENSG00000101213) in dendritic cells
20 62221610 2 GMEB2 T C exonic synonymous SNV GMEB2:NM_012384:exon10:c.A1425G:p.L475L RS311496 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Serum creatinine
20 62227081 2 GMEB2 A G exonic synonymous SNV GMEB2:NM_012384:exon6:c.T501C:p.H167H RS311489 Cystatin C in serum:Serum creatinine
20 62328375 2 TNFRSF6B A G exonic synonymous SNV TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L
20 62340115 2 ZGPAT C G exonic nonsynonymous SNV ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R RS1291212 Serum creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
20 62372813 2 SLC2A4RG G A exonic synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P RS2427536 Schizophrenia:Serum creatinine:HDL cholesterol:Gene expression of EEF1A2 [probe ILMN_2929] in osteoblasts with treatment interaction:Gene expression of ZGPAT///RP4-583P15.5 in blood:Gene expression of RP4-583P15.5///SLC2A4RG in blood
21 16340289 2 NRIP1 C T exonic synonymous SNV NRIP1:NM_003489:exon4:c.G225A:p.G75G RS2229741 Spatial recognition memory percent correct:LDL cholesterol:Systolic blood pressure (SBP):Age at death with kuru exposure
21 30250555 2 N6AMT1 T C exonic nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R
21 30250615 2 N6AMT1 T C exonic nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A353G:p.K118R,N6AMT1:NM_013240:exon5:c.A437G:p.K146R
21 30257568 2 N6AMT1 T C exonic nonsynonymous SNV N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D
21 30331935 1 LTN1 G A exonic nonsynonymous SNV LTN1:NM_001320766:exon12:c.C2534T:p.A845V,LTN1:NM_015565:exon13:c.C2576T:p.A859V
21 30339120 2 LTN1 C A exonic nonsynonymous SNV LTN1:NM_001320766:exon10:c.G1831T:p.G611C,LTN1:NM_015565:exon10:c.G1831T:p.G611C
21 30339234 2 LTN1 T C exonic nonsynonymous SNV LTN1:NM_001320766:exon10:c.A1717G:p.S573G,LTN1:NM_015565:exon10:c.A1717G:p.S573G
21 30341891 2 LTN1 A G exonic nonsynonymous SNV LTN1:NM_001320766:exon9:c.T1346C:p.L449S,LTN1:NM_015565:exon9:c.T1346C:p.L449S RS2254796 Triglycerides:Fasting insulin:HOMA-B:HOMA-IR:Methylation levels at chr21:29314090-29314140 [hg18 coord, probe cg05406101] in Frontal cortex:Gene expression of HEMK2 in blood:Gene expression of CCT8 in blood:Gene expression of C21orf7 in blood:Gene expression of RWDD2B (probeID ILMN_1698233) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RWDD2B (probeID ILMN_1698233) in temporal cortex in Alzheimer's disease cases and controls
21 30714776 1 BACH1 T C exonic synonymous SNV BACH1:NM_001186:exon5:c.T1833C:p.G611G,BACH1:NM_206866:exon5:c.T1833C:p.G611G RS388707 HDL cholesterol:HOMA-B:HDL cholesterol:Height:Systolic blood pressure (SBP):Height (Pygmy height):Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic participants):Decrease in FEV1 (in asthmatic participants):Gene expression of BACH1 (ENSG00000156273) in dendritic cells
21 33688865 1 URB1 A G exonic synonymous SNV URB1:NM_014825:exon38:c.T6546C:p.A2182A RS7279896 Cystatin C in serum:Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Refractive error:Parkinson's disease
21 33694224 2 URB1 C G exonic nonsynonymous SNV URB1:NM_014825:exon34:c.G5371C:p.V1791L RS3761342 2 hour glucose:Obesity with early age of onset (age >2)
21 33719400 1 URB1 A G exonic synonymous SNV URB1:NM_014825:exon22:c.T3733C:p.L1245L RS9981151 LDL cholesterol:Cystatin C in serum:Total cholesterol:LDL cholesterol:Parkinson's disease:Refractive error:Infant head circumference
21 33719695 2 URB1 C T exonic synonymous SNV URB1:NM_014825:exon22:c.G3438A:p.K1146K
21 34640788 2 IL10RB A G exonic nonsynonymous SNV IL10RB:NM_000628:exon2:c.A139G:p.K47E RS2834167 Triglycerides:Alzheimer's disease:Gene expression of IL10RB in peripheral blood monocytes:Gene expression of IL10RB [transcript NM_000628, probe A_24_P322741] in liver:Gene expression of IFNAR1 in blood:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in non-Alzheimer's disease samples:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease cases:Transmission distortion:Refractive error:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Progressive Supranuclear Palsy cases
21 34925142 2 SON C T exonic nonsynonymous SNV SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L
21 35281393 2 ATP5O A G exonic synonymous SNV ATP5O:NM_001697:exon4:c.T321C:p.N107N RS4591 Comorbid depressive syndrome and alcohol dependence:Gene expression of ATP5O in normal prepouch ileum
21 35467645 2 SLC5A3 A G exonic nonsynonymous SNV SLC5A3:NM_006933:exon2:c.A148G:p.T50A
21 35469193 2 SLC5A3 C A exonic nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K
21 37617630 2 DOPEY2 T G exonic nonsynonymous SNV DOPEY2:NM_001320714:exon19:c.T3352G:p.C1118G,DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G RS4817788 Serum creatinine:Partial epilepsy:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy)
21 38444863 2 PIGP C T exonic nonsynonymous SNV PIGP:NM_153681:exon1:c.G25A:p.A9T
21 38568009 2 TTC3 G C exonic nonsynonymous SNV TTC3:NM_001330681:exon33:c.G4321C:p.D1441H,TTC3:NM_001330682:exon33:c.G4321C:p.D1441H,TTC3:NM_001001894:exon42:c.G5251C:p.D1751H,TTC3:NM_001330683:exon42:c.G5251C:p.D1751H,TTC3:NM_003316:exon42:c.G5251C:p.D1751H,TTC3:NM_001320703:exon43:c.G5371C:p.D1791H,TTC3:NM_001320704:exon43:c.G5305C:p.D1769H RS1053966 Triglycerides:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Frontal cortex:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Temporal cortex:Methylation levels at chr21:37366093-37366143 [hg18 coord, probe cg21832243] in Caudal pons:Gene expression of DSCR5 in Caudal pons:Gene expression of DSCR5 in Temporal cortex:Triglycerides:HDL cholesterol:College completion:Gene expression of TTC3 in normal prepouch ileum
21 43161022 2 RIPK4 C T exonic synonymous SNV RIPK4:NM_020639:exon8:c.G2331A:p.T777T
21 43161357 2 RIPK4 T C exonic nonsynonymous SNV RIPK4:NM_020639:exon8:c.A1996G:p.M666V RS3746891 Triglycerides
21 43161805 2 RIPK4 G A exonic synonymous SNV RIPK4:NM_020639:exon8:c.C1548T:p.D516D RS2838113 LDL cholesterol:Gene expression change of RIPK4 (ENSG00000183421) in dendritic cells after treatment with Mycobacterium tuberculosis:Infant head circumference
21 43161877 2 RIPK4 C T exonic synonymous SNV RIPK4:NM_020639:exon8:c.G1476A:p.A492A RS3746893 LDL cholesterol:Bipolar disorder:Infant head circumference
21 43221483 2 PRDM15 A G exonic nonsynonymous SNV PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_001282934:exon25:c.T3514C:p.S1172P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P
21 44837555 2 LOC102724428;SIK1 G A exonic nonsynonymous SNV LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V RS430554 Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Adiponectin levels
21 45107518 2 RRP1B A G exonic synonymous SNV RRP1B:NM_015056:exon13:c.A1263G:p.P421P
21 45217559 2 RRP1 T C exonic synonymous SNV RRP1:NM_003683:exon7:c.T600C:p.I200I RS2838378 Gene expression of CSTB [probe 201201_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Gene expression of CSTB in peripheral blood monocytes:Height:Age-related macular degeneration:PROP taste detection threshold:Temperament in bipolar disorder (Anxious):Gene expression of CSTB in normal prepouch ileum
21 45522693 1 TRAPPC10 G A exonic synonymous SNV TRAPPC10:NM_001351709:exon15:c.G1980A:p.G660G,TRAPPC10:NM_003274:exon22:c.G3381A:p.G1127G
21 45544594 1 PWP2 T C exonic synonymous SNV PWP2:NM_005049:exon15:c.T1951C:p.L651L RS2187313 Gene expression of PWP2 [probe 209336_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Total cholesterol change with statins
21 46271452 1 PTTG1IP C T exonic nonsynonymous SNV PTTG1IP:NM_001286822:exon3:c.G259A:p.A87T RS235314 HDL cholesterol:HDL cholesterol:HDL cholesterol:Gene expression of PTTG1IP in liver:Coronary artery disease (CAD)
21 46641968 2 ADARB1 G A exonic nonsynonymous SNV ADARB1:NM_001346687:exon11:c.G2185A:p.A729T RS1051367 Gene expression of POFUT2 (probeID ILMN_2376667) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POFUT2 (probeID ILMN_2376667) in cerebellum in Alzheimer's disease cases and controls
21 46875564 2 COL18A1 T C exonic synonymous SNV COL18A1:NM_030582:exon1:c.T120C:p.H40H,COL18A1:NM_130444:exon1:c.T120C:p.H40H
21 46929467 1 COL18A1 G A exonic synonymous SNV COL18A1:NM_030582:exon39:c.G3978A:p.A1326A,COL18A1:NM_130444:exon39:c.G4683A:p.A1561A,COL18A1:NM_130445:exon40:c.G3438A:p.A1146A RS1050351 Serum creatinine
21 47777063 2 PCNT G A exonic nonsynonymous SNV PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E
21 47783796 2 PCNT T C exonic synonymous SNV PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A
21 47786817 2 PCNT C G exonic synonymous SNV PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L RS2839228 Gene expression of C21orf57 [probe 227421_at] in lymphoblastoid cell lines:Chronic kidney disease:HDL cholesterol:LDL cholesterol:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease cases and controls
22 18209613 2 BCL2L13 A G exonic synonymous SNV BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S RS4488761 Stabilized warfarin dose:Gene expression of BCL2L13 in blood:Gene expression of BID in blood:Comorbid depressive syndrome and alcohol dependence:Aortic valve calcium
22 19197896 2 CLTCL1 T C exonic synonymous SNV CLTCL1:NM_001835:exon20:c.A3189G:p.A1063A,CLTCL1:NM_007098:exon20:c.A3189G:p.A1063A RS698423 Serum Cit:Serum Lac/Cit
22 19868218 2 TXNRD2 A G exonic unknown UNKNOWN RS1139793 Barnes Akathisia Rating Scale
22 21354970 2 THAP7 C G exonic nonsynonymous SNV THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P
22 21800042 2 HIC2 T C exonic synonymous SNV HIC2:NM_015094:exon3:c.T858C:p.A286A
22 21800444 2 HIC2 T C exonic synonymous SNV HIC2:NM_015094:exon3:c.T1260C:p.H420H
22 24108412 2 CHCHD10 G A exonic synonymous SNV CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y RS9153 Gene expression of VPREB3 (probeID ILMN_1700147) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of VPREB3 (probeID ILMN_1700147) in cerebellum in Alzheimer's disease cases and controls
22 24717850 2 SPECC1L A G exonic nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G RS204710 Prostate cancer
22 24761467 2 SPECC1L G A exonic nonsynonymous SNV SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M RS204718 Prostate cancer
22 24988920 2 LRRC75B C T exonic synonymous SNV LRRC75B:NM_207644:exon1:c.G87A:p.E29E
22 26937327 2 TPST2 C A exonic synonymous SNV TPST2:NM_001008566:exon3:c.G270T:p.A90A,TPST2:NM_003595:exon3:c.G270T:p.A90A
22 29727886 2 AP1B1 T C exonic nonsynonymous SNV AP1B1:NM_001166019:exon17:c.A2248G:p.T750A,AP1B1:NM_145730:exon17:c.A2308G:p.T770A,AP1B1:NM_001127:exon18:c.A2329G:p.T777A
22 30771554 2 CCDC157 T G exonic nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A,CCDC157:NM_001318334:exon10:c.T1759G:p.S587A RS2015035 Gene expression of SF3A1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Gene expression of SF3A1 in blood:Adiponectin levels:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Alzheimer's disease cases:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Alzheimer's disease cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SF3A1 (probeID ILMN_1697286) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SF3A1 (probeID ILMN_1697286) in cerebellum in non-Alzheimer's disease samples
22 31011610 2 TCN2 G C exonic nonsynonymous SNV TCN2:NM_000355:exon6:c.G776C:p.R259P,TCN2:NM_001184726:exon6:c.G695C:p.R232P RS1801198 Years of education:Adiponectin levels
22 31266546 2 OSBP2 T C exonic synonymous SNV OSBP2:NM_001282741:exon2:c.T210C:p.A70A,OSBP2:NM_001282739:exon3:c.T984C:p.A328A,OSBP2:NM_030758:exon3:c.T984C:p.A328A,OSBP2:NM_001282738:exon4:c.T489C:p.A163A RS2301816 PROP taste detection threshold:Infant head circumference:College completion:Years of education
22 31333631 2 MORC2 T C exonic synonymous SNV MORC2:NM_001303256:exon15:c.A1437G:p.P479P,MORC2:NM_001303257:exon15:c.A1437G:p.P479P,MORC2:NM_014941:exon16:c.A1251G:p.P417P RS3747151 Gene expression of TUG1 [probe 222244_s_at] in lymphoblastoid cell lines:Aortic valve calcium
22 31342376 2 MORC2 G C exonic synonymous SNV MORC2:NM_001303256:exon6:c.C378G:p.T126T,MORC2:NM_001303257:exon6:c.C378G:p.T126T,MORC2:NM_014941:exon7:c.C192G:p.T64T RS2072132 Waist hip ratio:Years of education:Aortic valve calcium
22 31673092 1 LIMK2 C G exonic nonsynonymous SNV LIMK2:NM_001031801:exon15:c.C2027G:p.A676G
22 31971258 2 SFI1 T C exonic nonsynonymous SNV SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_014775:exon10:c.T964C:p.Y322H RS5753700 2 hour glucose:HDL cholesterol:Gene expression of PIK3IP1 in peripheral blood monocytes:Height
22 32795641 2 RTCB C T exonic synonymous SNV RTCB:NM_014306:exon6:c.G603A:p.Q201Q RS5749426 PROP taste detection threshold:Gene expression of RFPL3S (probeID ILMN_2401263) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RFPL3S (probeID ILMN_2401263) in temporal cortex in Alzheimer's disease cases and controls
22 34022284 2 LARGE1 G A exonic synonymous SNV LARGE1:NM_133642:exon4:c.C435T:p.A145A,LARGE1:NM_004737:exon5:c.C435T:p.A145A RS86487 Obesity with early age of onset (age >2)
22 36424450 2 RBFOX2 A C exonic nonsynonymous SNV RBFOX2:NM_001082578:exon1:c.T24G:p.H8Q,RBFOX2:NM_001082579:exon1:c.T24G:p.H8Q,RBFOX2:NM_001349999:exon1:c.T24G:p.H8Q
22 36537500 2 APOL3 A T exonic synonymous SNV APOL3:NM_145640:exon3:c.T957A:p.G319G,APOL3:NM_014349:exon4:c.T744A:p.G248G,APOL3:NM_145639:exon4:c.T744A:p.G248G,APOL3:NM_145642:exon4:c.T357A:p.G119G,APOL3:NM_030644:exon5:c.T744A:p.G248G,APOL3:NM_145641:exon5:c.T357A:p.G119G RS132618 Serum creatinine:Waist hip ratio
22 36587223 2 APOL4 G T exonic unknown UNKNOWN RS6000173 Fasting blood glucose:Waist hip ratio:PROP taste detection threshold:Obesity with early age of onset (age >2)
22 36587279 2 APOL4 A G exonic unknown UNKNOWN RS6000174 Fasting insulin:PROP taste detection threshold:Obesity with early age of onset (age >2)
22 36623731 2 APOL2 T C exonic nonsynonymous SNV APOL2:NM_030882:exon5:c.A733G:p.I245V,APOL2:NM_145637:exon6:c.A733G:p.I245V RS132760 Cystatin C in serum
22 36661330 2 APOL1 G A exonic nonsynonymous SNV APOL1:NM_001136541:exon5:c.G394A:p.E132K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K RS2239785 Arthritis including non-Rheumatoid:Focal segmental glomerulosclerosis:Neuroblastoma (brain cancer):Adiponectin levels
22 36661536 2 APOL1 C A exonic synonymous SNV APOL1:NM_001136541:exon5:c.C600A:p.A200A,APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_145343:exon7:c.C702A:p.A234A RS136174 Adiponectin levels
22 36661566 2 APOL1 G A exonic nonsynonymous SNV APOL1:NM_001136541:exon5:c.G630A:p.M210I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I RS136175 Arthritis including non-Rheumatoid:Partial epilepsy:Focal segmental glomerulosclerosis:Neuroblastoma (brain cancer):Adiponectin levels
22 36661646 2 APOL1 G A exonic nonsynonymous SNV APOL1:NM_001136541:exon5:c.G710A:p.R237K,APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K RS136176 Arthritis including non-Rheumatoid:Partial epilepsy:Focal segmental glomerulosclerosis:Neuroblastoma (brain cancer):Adiponectin levels
22 36661842 2 APOL1 G A exonic synonymous SNV APOL1:NM_001136541:exon5:c.G906A:p.R302R,APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_145343:exon7:c.G1008A:p.R336R RS136177 Adiponectin levels
22 36691607 2 MYH9 A C exonic synonymous SNV MYH9:NM_002473:exon26:c.T3429G:p.A1143A RS710181 Chronic kidney disease:Microalbuminuria:Systolic blood pressure (SBP)
22 37453452 2 KCTD17 C T exonic synonymous SNV KCTD17:NM_001282684:exon4:c.C426T:p.H142H,KCTD17:NM_001282685:exon4:c.C426T:p.H142H,KCTD17:NM_001282686:exon4:c.C426T:p.H142H,KCTD17:NM_024681:exon4:c.C426T:p.H142H
22 38341134 2 C22orf23 T C exonic synonymous SNV C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T RS139859 Total cholesterol:Total cholesterol change with statins:Triglycerides change with statins:Methylation levels at chr22:36473064-36473114 [hg18 coord, probe cg25404088] in Cerebellum:Total cholesterol:LDL cholesterol
22 39222652 2 NPTXR G A exonic synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y RS5757299 Rheumatoid arthritis:Gene expression of CBX6 in peripheral blood monocytes:Total cholesterol
22 39382079 2 APOBEC3B C A exonic nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.C437A:p.T146K,APOBEC3B:NM_004900:exon3:c.C437A:p.T146K
22 41551039 2 EP300 T A exonic synonymous SNV EP300:NM_001429:exon17:c.T3183A:p.T1061T RS20552 Serum creatinine:Birth weight
22 41833116 2 TOB2 C T exonic synonymous SNV TOB2:NM_016272:exon2:c.G234A:p.A78A RS202641 Fasting blood glucose:Serum creatinine:Cystatin C in serum:Height:Microalbuminuria:Birth weight
22 41911525 2 ACO2 C T exonic synonymous SNV ACO2:NM_001098:exon5:c.C670T:p.L224L RS1799932 Irritible bowel syndrome:Schizophrenia:Fasting blood glucose:Chronic kidney disease:Serum creatinine:Height:Microalbuminuria:Gene expression of ZC3H7B [transcript NM_017590, probe A_23_P218807] in liver:Gene expression of RP3-347H13.6 in blood:Gene expression of MEI1 in blood:Gene expression of NHP2L1 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression change of PMM1 (ENSG00000100417) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of POLR3H (ENSG00000100413) in dendritic cells:Gene expression change of POLR3H (ENSG00000100413) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CCDC134 in normal prepouch ileum:Birth weight
22 42089623 2 C22orf46 T C exonic nonsynonymous SNV C22orf46:NM_001142964:exon2:c.T373C:p.W125R
22 42463814 2 NAGA C T exonic synonymous SNV NAGA:NM_000262:exon3:c.G279A:p.P93P RS133369 Gene expression of C22orf32 [probe 225795_at] in lymphoblastoid cell lines:Gene expression of C22orf32 [probe 225794_s_at] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Methylation levels at chr22:40796291-40796341 [hg18 coord, probe cg27187881] in Caudal pons:Methylation levels at chr22:40796291-40796341 [hg18 coord, probe cg27187881] in Temporal cortex:Height:Gene expression of C22orf32 in normal prepouch ileum:Salmonella-induced pyroptosis
22 42523943 2 CYP2D6 A G exonic nonsynonymous SNV CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,CYP2D6:NM_000106:exon6:c.T886C:p.C296R
22 43558926 2 TSPO A G exonic nonsynonymous SNV TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A,TSPO:NM_001256531:exon4:c.A439G:p.T147A RS6971 Schizophrenia:Gene expression of TSPO [probe 3947627] in peripheral blood mononuclear cells:Total cholesterol:LDL cholesterol:Gene expression of CCNC in peripheral blood monocytes:Gene expression of TSPO in blood:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in non-Alzheimer's disease samples:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Alzheimer's disease cases:Infant head circumference:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's disease cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TSPO (probeID ILMN_2349658) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSPO (probeID ILMN_2349658) in temporal cortex in Alzheimer's disease cases and controls
22 44342116 2 PNPLA3 A G exonic nonsynonymous SNV PNPLA3:NM_025225:exon9:c.A1300G:p.K434E RS2294918 Stabilized warfarin dose:HDL cholesterol:Fasting blood glucose:Total cholesterol:Mitral annular calcium
22 44379822 2 SAMM50 T C exonic synonymous SNV SAMM50:NM_015380:exon12:c.T1017C:p.L339L
22 44379838 2 SAMM50 A G exonic nonsynonymous SNV SAMM50:NM_015380:exon12:c.A1033G:p.I345V RS8418 Childhood acute lymphoblastic leukemia:Mitral annular calcium
22 45128232 2 PRR5 T C exonic synonymous SNV PRR5:NM_001017529:exon6:c.T231C:p.R77R,PRR5:NM_001017530:exon6:c.T231C:p.R77R,PRR5:NM_181333:exon6:c.T516C:p.R172R,PRR5:NM_001017528:exon7:c.T489C:p.R163R,PRR5:NM_015366:exon7:c.T489C:p.R163R,PRR5:NM_001198721:exon8:c.T585C:p.R195R
22 45923827 2 FBLN1 A G exonic nonsynonymous SNV FBLN1:NM_001996:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006487:exon4:c.A422G:p.Q141R
22 46677607 2 TTC38 T C exonic nonsynonymous SNV TTC38:NM_017931:exon7:c.T727C:p.F243L
22 46722400 2 GTSE1 T C exonic nonsynonymous SNV GTSE1:NM_016426:exon9:c.T1573C:p.W525R
22 46931793 2 CELSR1 G C exonic synonymous SNV CELSR1:NM_014246:exon1:c.C1275G:p.L425L
22 47058992 2 GRAMD4 T C exonic synonymous SNV GRAMD4:NM_015124:exon6:c.T522C:p.F174F
22 50277835 2 ZBED4 T C exonic synonymous SNV ZBED4:NM_014838:exon2:c.T525C:p.S175S RS910796 Fasting insulin
22 50277883 2 ZBED4 A G exonic synonymous SNV ZBED4:NM_014838:exon2:c.A573G:p.P191P
22 50278438 2 ZBED4 A G exonic synonymous SNV ZBED4:NM_014838:exon2:c.A1128G:p.P376P RS910798 Fasting insulin:HOMA-IR:Gene expression of CRELD2 in peripheral blood monocytes
22 50278568 2 ZBED4 A G exonic nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V RS910799 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Chronic kidney disease:Rheumatoid arthritis:Gene expression of CRELD2 in CD4+ lymphocytes:Gene expression of CRELD2 in blood:Variant Creutzfeldt-Jakob disease:Tetrology of fallot
22 50278642 2 ZBED4 C T exonic synonymous SNV ZBED4:NM_014838:exon2:c.C1332T:p.G444G RS910800 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney disease
22 50280136 2 ZBED4 T C exonic synonymous SNV ZBED4:NM_014838:exon2:c.T2826C:p.A942A RS5770755 Differential splicing of ALG12 [probeset 3965401] in lymphoblastoid cell lines:Triglycerides:Chronic kidney disease
22 50356693 2 PIM3 T C exonic nonsynonymous SNV PIM3:NM_001001852:exon6:c.T899C:p.V300A RS4077129 PROP taste detection threshold
22 50657010 2 TUBGCP6 C G exonic nonsynonymous SNV TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L
22 50699668 2 MAPK12 A G exonic synonymous SNV MAPK12:NM_001303252:exon2:c.T183C:p.P61P,MAPK12:NM_002969:exon2:c.T183C:p.P61P RS2272857 Triglycerides:Methylation levels at chr22:49042605-49042655 [hg18 coord, probe cg21974239] in Frontal cortex:Urinary albumin-to-creatinine ratio:Years of education:Acute lung injury following major trauma:Parkinson's disease
22 50719251 2 PLXNB2 A G exonic synonymous SNV PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P
22 50877166 2 PPP6R2 G C exonic synonymous SNV PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351644:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351646:exon18:c.G2019C:p.A673A,PPP6R2:NM_001351648:exon18:c.G1536C:p.A512A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351641:exon19:c.G2106C:p.A702A,PPP6R2:NM_001351642:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351645:exon19:c.G2022C:p.A674A,PPP6R2:NM_001351647:exon19:c.G1617C:p.A539A,PPP6R2:NM_001351643:exon20:c.G2103C:p.A701A
22 50895020 2 SBF1 C T exonic synonymous SNV SBF1:NM_002972:exon30:c.G3987A:p.A1329A
22 50941985 2 LMF2 T C exonic synonymous SNV LMF2:NM_033200:exon14:c.A1959G:p.Q653Q